Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	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.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	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.1	CADD_raw_rankscore	CADD_phred.1	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.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	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.1	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	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES956-M	WT	HH	HZ	NC
chr1	1043909	1043909	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon10:c.G1885A:p.G629S,	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1927773	Congenital_myasthenic_syndrome_8|Inborn_genetic_diseases	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.69	T	0.337	B	0.203	B	0.176	N	1.000	N	-0.625	N	3.91	T	-0.903	T	0.004	T	0.152	-0.880	0.480	-0.563	0.026	0.449	5.319	0.012	0.0184767680369	.	.	2.768e-05	0	9.24e-05	0	0	1.686e-05	0	6.292e-05	1.94e-05	3	154602	rs150061172	2.331e-05	2.394e-05	2.32e-05	2.343e-05	0.0001	1.678e-05	1.481e-05	4.363e-05	2.77e-05	2.988e-05	0.0001	0	2.52e-05	0	0	1.979e-05	1.658e-05	4.642e-05	2.638e-05	3.287e-05	2.578e-05	2.7e-05	6.558e-05	8.16e-06	5.16e-06	4.89e-06	1.83e-06	2.426e-05	0	6.558e-05	0	0	0	0	2.947e-05	0	0	0.648	0.04880	T	0.61	0.07691	T	.	.	.	.	.	.	0.176039	0.17235	N	0.492861	1	0.08975	N	-0.195	0.04202	N	3.91	0.03489	T	-0.07	0.08033	N	0.224	0.32591	-0.9031	0.47661	T	0.004	0.01435	T	10	0.046268195	0.03796	T	0.018477	0.40558	T	0.012	0.01476	0.353	0.35246	0.39709148275	0.39321	0.3550924720832901	0.35423	0.570553622991	0.53213	0.507405638695	0.39860	T	.	.	.	-0.459897	0.00985	T	-0.672685	0.07437	T	0.0341466696895363	0.02662	T	0.754025	0.37642	T	.	.	.	.	.	.	.	.	-1.983	0.03117	T	.	.	0.092	0.13503	B	.;.	.;.	1.076723	0.14596	11.16	0.70113294878737531	0.09190	0.19088	0.20523	N	AEFBI	0.136998	0.25784	N	-1.26884824624819	0.04056	0.1823605	-1.28953681773067	0.04571	0.2159143	0.123777626240942	0.16943	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.98	-0.563	0.11188	0.144000	0.15956	0.354000	0.17507	-0.104000	0.15758	0.000000	0.06391	0.008000	0.19753	0.007000	0.07825	0.2752:0.0:0.5802:0.1446	5.319	0.15177	940	0.13648	.;Kazal domain|Kazal domain|Factor I / membrane attack complex|Kazal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1103.98	39	chr1	1043909	.	G	A	1103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-02;DP=909;ExcessHet=0.0000;FS=1.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-1.018e+00;SOR=0.874	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1118,0,1172	20	0	1	0
chr1	1752908	1752908	-	CCTCCT	exonic	NADK	.	nonframeshift insertion	NADK:NM_001198995:exon10:c.1240_1241insAGGAGG:p.E413_G414insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0013	0.0013	0.0016	0	0.0018	0.0093	0.0161	0.0003074	8	26028	rs150880809	0.0039	0.0041	0.0034	0.0044	0.0211	0.0038	0.0038	0.0203	0.0200	0.0040	0.0042	0.0015	0.0026	0.0003	0.0130	0.0028	0.0048	0.0211	0.0044	0.0045	0.0041	0.0047	0.0232	0.0041	0.0040	0.0197	0.0184	0.0042	0.0111	0.0037	0.0012	0.0042	0.0006	0.0171	0.0038	0.0107	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22075.32	36	chr1	1752908	.	C	CCCT,CCCTCCT	22075.32	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-6.990e-01;DP=1313;ExcessHet=0.1361;FS=0.555;InbreedingCoeff=0.2741;MLEAC=14,1;MLEAF=0.333,0.024;MQ=59.91;MQRankSum=0.00;QD=26.12;ReadPosRankSum=0.088;SOR=0.757	GT:AD:DP:GQ:PL	1/1:0,71,0:71:99:3140,213,0,3140,214,3140	10	3	7	0
chr1	3430950	3430950	G	C	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon15:c.G3363C:p.E1121D	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	.	395	1124	2	1	0	4	0.0017762	.	.	823922	not_provided|Left_ventricular_noncompaction_8	MedGen:C3661900|MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.993	D	0.020	N	0.997	D	2.015	M	3.27	T	-1.146	T	0.048	T	0.273	1.215	9.931	1.76	0.862	1.552	6.304	0.066	0.025334441937	.	.	9.699e-06	0	0	0	0	1.737e-05	0	0	6.5e-06	1	154602	rs749724757	2.942e-05	2.942e-05	2.996e-05	2.889e-05	0.0016	2.217e-05	1.97e-05	0.0008	0.0006	0	0	0	0	0	0.0016	1.529e-05	0.0001	0.0001	2.628e-05	2.627e-05	3.853e-05	1.345e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.099	0.30800	T	0.267	0.23914	T	0.999	0.77913	D	0.993	0.81110	D	0.020315	0.27067	N	0.240772	0.997061	0.43605	D	2.425	0.70256	M	3.23	0.07125	T	-1.1	0.28497	N	0.435	0.49237	-1.1463	0.01139	T	0.048	0.20632	T	10	0.11664358	0.22008	T	0.025334	0.48313	D	0.066	0.19193	0.102	0.01589	0.616309752723	0.61320	0.06515076404591119	0.06454	0.0670724899157	0.07489	0.402989834547	0.25486	T	0.006058	0.35315	T	-0.340526	0.05351	T	-0.523319	0.19959	T	0.29468834400177	0.24784	T	0.626337	0.24237	T	0.09266372	0.21743	0.08742024	0.20319	0.09266372	0.21743	0.08742024	0.20319	-4.025	0.25496	T	.	.	0.075	0.10014	B	.;.;.;.;.	.;.;.;.;.	2.278534	0.29133	18.02	0.98853040340301201	0.47322	0.85204	0.44316	D	AEFBI	0.369095	0.45596	N	0.149826670619507	0.48805	3.088194	0.0214763056487522	0.40715	2.434211	0.0227145104524908	0.13452	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.14	1.76	0.23776	1.526000	0.35570	-0.034000	0.12756	0.676000	0.76740	0.999000	0.42656	0.242000	0.23858	0.025000	0.12405	0.4769:0.0:0.5231:0.0	6.304	0.20335	958	0.09170	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2029.98	34	chr1	3430950	.	G	C	2029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.178e+00;DP=856;ExcessHet=0.0000;FS=7.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-3.780e-01;SOR=1.021	GT:AD:DP:GQ:PL	0/1:70,87:157:99:2044,0,1710	20	0	1	0
chr1	6532740	6532740	T	C	exonic	NOL9	.	nonsynonymous SNV	NOL9:NM_024654:exon8:c.A1258G:p.I420V,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.011	B	0.01	B	0.005	N	0.963	N	-0.2	N	1.08	T	-1.028	T	0.031	T	0.116	1.005	9.106	2.52	0.193	0.807	8.034	0.008	.	.	0.00379393	0.0019	0	0	0.0260	0	4.635e-05	0	0.0002	0.0016753	259	154602	rs17029613	0.0007	0.0007	0.0007	0.0007	0.0247	0.0007	0.0007	0.0234	0.0229	2.99e-05	2.239e-05	0	0.0247	0	0.0002	1.44e-05	0.0005	0.0003	0.0008	0.0008	0.0008	0.0008	0.0214	0.0007	0.0006	0.0182	0.0170	0	0	0.0001	0	0.0214	0	0	1.47e-05	0.0014	0.0004	0.929	0.02256	T	0.606	0.07791	T	0.011	0.15914	B	0.01	0.14941	B	0.004512	0.33669	N	0.254066	0.962662	0.26057	N	0.06	0.08197	N	1.08	0.39401	T	-0.23	0.10656	N	0.082	0.05799	-1.0278	0.21168	T	0.031	0.13155	T	10	0.004010856	0.00078	T	.	.	.	0.008	0.00669	.	.	0.220303561663	0.21668	0.3173879305641307	0.31651	0.388189481268	0.40082	0.276008427143	0.06942	T	0.029467	0.21107	T	-0.597636	0.00151	T	-0.612985	0.11744	T	0.00556125418269381	0.00061	T	0.675632	0.28413	T	0.02489878	0.01368	0.035324574	0.02764	0.02489878	0.01367	0.035324574	0.02764	-3.237	0.12938	T	.	.	0.078	0.06803	B	.	.	1.194031	0.15853	12.15	0.83951312818424384	0.15012	0.70040	0.34428	D	AEFBCI	0.053550	0.09658	N	-0.699795765919861	0.16027	0.8130148	-0.529159756237435	0.21362	1.155285	0.825930408975002	0.24607	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.04	2.52	0.29514	0.755000	0.26070	0.279000	0.16745	0.645000	0.52629	0.996000	0.39380	0.699000	0.26222	0.989000	0.64315	0.0:0.2419:0.0:0.7581	8.034	0.29643	754	0.51307	Polyribonucleotide 5'-hydroxyl-kinase Clp1, P-loop domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2046.98	33	chr1	6532740	.	T	C	2046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.890e+00;DP=915;ExcessHet=0.0000;FS=5.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-2.086e+00;SOR=0.434	GT:AD:DP:GQ:PL	0/1:103,91:194:99:2061,0,2607	20	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.001	B	0.031	N	1.000	N	0.46	N	3.34	T	-0.965	T	0.008	T	0.041	-0.002	4.003	-6.6	-1.007	-4.202	1.562	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2778	864.06	40	chr1	7933282	.	T	C	864.06	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.070e-01;DP=693;ExcessHet=6.5132;FS=112.254;InbreedingCoeff=-0.4232;MLEAC=12;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=2.69;ReadPosRankSum=0.238;SOR=9.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,5:18:35:.:.:35,0,227	8	0	10	3
chr1	8359796	8359796	-	CTCCCGCTCCCGCTCCTTCTCCTTCTCCTT	exonic	RERE	.	nonframeshift insertion	RERE:NM_001042682:exon9:c.1923_1924insAAGGAGAAGGAGAAGGAGCGGGAGCGGGAG:p.E641_R642insKEKEKERERE	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.142e-06	4.112e-06	4.124e-06	4.161e-06	5.409e-06	1.49e-06	9.8e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.409e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1594.94	34	chr1	8359796	.	G	GCTCCCGCTCCCGCTCCTTCTCCTTCTCCTT	1594.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=894;ExcessHet=0.0000;FS=9.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-2.534e+00;SOR=1.594	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1609,0,2537	20	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.969	D	0.000	D	1.000	D	1.355	L	-0.82	T	-0.170	T	0.498	T	0.639	3.746	19.02	5.6	2.633	9.476	19.620	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11777.12	34	chr1	10326244	.	G	C	11777.12	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-6.149e+00;DP=3631;ExcessHet=11.8493;FS=235.795;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.590;SOR=13.423	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,49:243:99:0|1:10326244_G_C:601,0,7373:10326244	8	0	13	0
chr1	10660197	10660197	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.C845T:p.T282M	.	.	422	1056	40	4	0	48	0.0222222	.	.	718055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.06	T	0.998	D	0.78	P	0.190	N	0.997	N	0.55	N	.	.	-1.056	T	0.073	T	0.172	2.517	14.38	4.38	2.160	2.029	13.121	0.058	.	0.0059	0.00519169	0.0082	0.0015	0.0026	0.0004	0.0067	0.0100	0.0056	0.0135	0.0074837	1157	154602	rs61736951	0.0072	0.0072	0.0068	0.0076	0.0191	0.0071	0.0071	0.0162	0.0151	0.0019	0.0034	0.0160	0.0007	0.0055	0.0191	0.0069	0.0080	0.0150	0.0056	0.0056	0.0051	0.0061	0.0129	0.0053	0.0051	0.0103	0.0094	0.0012	0.0022	0.0059	0.0159	0.0006	0.0047	0.0136	0.0075	0.0090	0.0129	0.189	0.21224	T	0.107	0.37730	T	0.994	0.66517	D	0.669	0.53077	P	0.190046	0.16871	N	0.601187	0.996524	0.22987	N	0.345	0.11182	N	.	.	.	-0.63	0.19720	N	0.255	0.38129	-1.0558	0.12829	T	0.073	0.29675	T	9	0.004262656	0.00085	T	.	.	.	0.058	0.16647	.	.	0.117191471859	0.11215	0.11922760581229094	0.11849	.	.	0.504599630833	0.39469	T	0.201332	0.55919	T	-0.471224	0.00835	T	-0.43798	0.29036	T	0.0267151649434157	0.01504	T	0.822018	0.48145	T	0.041268017	0.06047	0.05852582	0.10829	0.043633867	0.06834	0.05852582	0.10828	-4.584	0.32184	T	.	.	0.086	0.15475	B	.;.	.;.	3.062232	0.41128	21.3	0.99763478845760645	0.85254	0.87686	0.47309	D	AEFBI	0.337971	0.43559	N	0.187735215576894	0.50610	3.249349	0.183295668271457	0.48932	3.102669	0.999283082583387	0.39007	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	4.139000	0.57788	6.578000	0.55988	0.618000	0.50648	0.976000	0.34826	1.000000	0.68203	0.214000	0.22296	0.0:0.161:0.839:0.0	13.121	0.58746	777	0.48198	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2025.11	33	chr1	10660197	.	G	A	2025.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.28;DP=886;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=0.454;SOR=0.736	GT:AD:DP:GQ:PL	0/1:45,28:73:99:734,0,1130	19	0	2	0
chr1	13281633	13281633	A	G	exonic	PRAMEF8	.	nonsynonymous SNV	PRAMEF8:NM_001012276:exon4:c.T1163C:p.I388T,	.	.	447	1068	7	0	0	7	0.00326645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.99	D	0.894	P	0.281	N	1.000	N	2.25	M	5.11	T	-1.013	T	0.014	T	0.283	1.264	10.12	2.03	0.929	3.342	7.682	0.105	0.0392094899584	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261687327	0.0006	0.0006	0.0006	0.0007	0.0024	0.0006	0.0006	0.0022	0.0021	5.989e-05	8.956e-05	0	0	0	0.0017	0.0006	0.0006	0.0024	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0008	7.507e-05	0	7.264e-05	0	0	0	0	0.0006	0.0026	0.0021	0.262	0.16466	T	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	0.01224	T	-3.38	0.66780	D	0.289	0.34336	.	.	.	.	.	.	.	0.29297444	0.46873	T	.	.	.	.	.	.	.	0.186928172975	0.18263	0.36682660529706146	0.36596	.	.	0.565986931324	0.48111	T	0.100821	0.40699	T	0.0184342	0.54170	T	-0.211297	0.53571	T	.	.	.	.	.	.	0.0498263	0.08909	0.12004041	0.28972	0.0498263	0.08908	0.12004041	0.28971	-6.743	0.52133	T	.	.	0.537	0.66914	A	.;.;.	.;.;.	2.431563	0.31284	18.69	0.63082009607711964	0.07130	0.49232	0.28386	N	AEFI	0.058508	0.10982	N	.	.	.	.	.	.	6.82775468482763E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.56	1.56	0.22423	3.606000	0.53846	3.706000	0.39541	0.359000	0.20063	0.858000	0.30578	0.186000	0.23459	0.052000	0.15357	1.0:0.0:0.0:0.0	7.169	0.24883	.	.	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5814.11	36	chr1	13281633	.	A	G	5814.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.550e+00;DP=1267;ExcessHet=0.1072;FS=15.158;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=35.80;MQRankSum=2.32;QD=12.06;ReadPosRankSum=0.040;SOR=0.236	GT:AD:DP:GQ:PL	0/1:76,119:195:99:3006,0,1843	19	0	2	0
chr1	15044002	15044002	C	T	exonic	KAZN	.	nonsynonymous SNV	KAZN:NM_001017999:exon4:c.C287T:p.A96V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.994	D	0.000	D	1.000	D	1.995	M	0.76	T	-0.688	T	0.281	T	0.744	4.791	27.0	5.57	2.620	7.532	18.551	0.143	0.0430029602211	.	0.00119808	0.0005	0.0001	0	0.0063	0	0	0	0.0002	0.0004075	63	154602	rs199800318	0.0001	0.0001	0.0002	0.0001	0.0044	0.0001	0.0001	0.0039	0.0037	0	0	0	0.0044	0	0	4.503e-06	0.0001	9.336e-05	0.0002	0.0002	0.0002	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	0	0	0	0	0.0066	0	0	2.94e-05	0	0.0002	0.017	0.51248	D	0.122	0.92824	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	0.76	0.49919	T	-1.58	0.44852	N	0.822	0.83371	-0.6884	0.60983	T	0.281	0.65299	T	10	0.007834524	0.00178	T	0.043003	0.60760	D	0.143	0.38195	.	.	0.627068036885	0.62402	0.6215707748682917	0.62090	1.69032178031	0.90120	0.872025489807	0.92856	D	0.060589	0.31428	T	-0.237538	0.15665	T	-0.106164	0.62915	T	0.180557977292273	0.19270	T	0.974702	0.93547	D	0.27392992	0.50459	0.23580341	0.48834	0.27392992	0.50459	0.23580341	0.48833	-12.032	0.87173	D	.	.	0.540	0.70361	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.342191	0.89632	31	0.99903392604941688	0.97502	0.97606	0.75858	D	AEFDBI	0.932713	0.92349	D	0.551409454634769	0.70168	5.462068	0.51011821498009	0.68668	5.252154	0.999999999946801	0.74766	0.675385	0.55134	0	0.588015	0.36545	0	0.693117	0.63056	0	0.699875	0.68795	0	.	.	5.57	5.57	0.84021	7.614000	0.82196	7.535000	0.59982	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.745000	0.35611	0.0:1.0:0.0:0.0	18.551	0.91016	977	0.04225	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1398.98	40	chr1	15044002	.	C	T	1398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=881;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-2.490e-01;SOR=0.841	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1413,0,929	20	0	1	0
chr1	15661280	15661280	G	A	exonic	RSC1A1	.	nonsynonymous SNV	RSC1A1:NM_006511:exon1:c.G1412A:p.R471H,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.067	B	0.057	B	0.629	N	1.000	N	0.345	N	1.93	T	-0.999	T	0.034	T	0.156	-0.487	1.760	1.74	0.378	0.301	5.399	0.017	0.0102735315298	0.0002	.	4.95e-05	0	0	0	0	9.007e-05	0	0	5.17e-05	8	154602	rs138904592	9.577e-05	9.645e-05	9.801e-05	9.351e-05	0.0005	8.242e-05	7.783e-05	0.0001	8.352e-05	5.974e-05	0	0	0	1.873e-05	0.0005	0.0001	0.0001	9.275e-05	5.911e-05	5.906e-05	8.994e-05	2.687e-05	8.82e-05	3.076e-05	2.209e-05	3.762e-05	2.575e-05	4.814e-05	0	6.545e-05	0	0	0	0	8.82e-05	0	0	0.059	0.37536	T	0.135	0.34124	T	0.067	0.23653	B	0.057	0.26280	B	0.628785	0.10707	N	0.824108	1	0.08975	N	0.345	0.11182	N	1.93	0.22881	T	-0.39	0.13611	N	0.035	0.01004	-0.9993	0.30115	T	0.034	0.14639	T	10	0.034783274	0.01700	T	0.010274	0.26610	T	0.017	0.02790	.	.	0.0920862733494	0.08535	0.08614747406315171	0.08548	0.0492791922644	0.05390	0.216696709394	0.01128	T	0.107922	0.42054	T	-0.410735	0.01965	T	-0.602067	0.12638	T	0.0150796106931232	0.00326	T	0.425957	0.11436	T	0.018209375	0.00342	0.02416895	0.00433	0.018209375	0.00342	0.02416895	0.00433	-2.868	0.08828	T	.	.	0.066	0.02200	B	.	.	0.811211	0.11821	8.391	0.64995560161370236	0.07648	0.05717	0.11640	N	AEFGBI	0.060788	0.11577	N	-1.1643628775278	0.05547	0.2531838	-1.12903259934048	0.07150	0.3467139	0.00938025819647507	0.11843	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	1.74	0.23636	0.319000	0.19270	-0.691000	0.07840	-0.858000	0.02657	0.077000	0.22263	0.000000	0.08366	0.050000	0.15192	0.2555:0.3497:0.3948:0.0	5.399	0.15586	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1308.98	35	chr1	15661280	.	G	A	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-02;DP=823;ExcessHet=0.0000;FS=4.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=0.116;SOR=0.375	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1323,0,1000	20	0	1	0
chr1	16004335	16004335	G	C	exonic	SRARP	.	nonsynonymous SNV	SRARP:NM_178840:exon1:c.G32C:p.R11T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.077	B	0.025	B	0.154	N	1.000	N	0.895	L	0.82	T	-1.047	T	0.074	T	0.119	3.386	17.42	1.05	0.251	0.487	4.243	0.018	0.00692765441842	.	.	6.31e-05	0	0	0	0	4.456e-05	0	0.0003	4.53e-05	7	154602	rs773988482	3.295e-05	3.42e-05	1.775e-05	4.832e-05	0.0004	2.552e-05	2.256e-05	0.0003	0.0002	0	0	0	0	0	0	1.261e-05	3.323e-05	0.0004	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.053	0.38863	T	0.118	0.36233	T	0.077	0.24313	B	0.025	0.20508	B	0.153957	0.17876	N	0.478549	1	0.08975	N	.	.	.	0.82	0.48142	T	-2.3	0.51157	N	0.249	0.28146	-1.0467	0.15332	T	0.074	0.29739	T	10	0.04128614	0.02771	T	0.006928	0.18345	T	0.018	0.03083	0.288	0.24761	0.0482279557977	0.04254	0.06945768261637977	0.06883	0.0843777456082	0.09530	.	.	.	0.032171	0.22369	T	-0.484182	0.00700	T	-0.613261	0.11722	T	0.0403265331933463	0.03749	T	0.414759	0.10842	T	0.08904845	0.20793	0.07993501	0.18038	0.08904845	0.20793	0.07993501	0.18038	-3.472	0.16042	T	.	.	0.124	0.26138	B	.	.	1.830435	0.23256	15.95	0.96106354906241009	0.28730	0.04392	0.09974	N	AEFDBHCI	0.049043	0.08432	N	-0.862936213665181	0.11733	0.5678574	-0.896619148201067	0.12174	0.6246755	0.999939545491343	0.46732	0.487112	0.14033	0	0.547309	0.14657	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.0	1.05	0.19280	0.660000	0.24691	1.116000	0.24201	0.614000	0.49286	0.001000	0.13787	0.002000	0.18203	0.729000	0.35066	0.2126:0.1905:0.5969:0.0	4.243	0.10108	440	0.80101	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1172.98	35	chr1	16004335	.	G	C	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=926;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.271;SOR=0.823	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1187,0,948	20	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:497,148:645:99:2809,0,17351	3	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	.	.	.	.	.	.	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	0.4286	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:639,220:859:99:4151,0,17426	3	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	.	.	.	.	.	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	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:709,195:904:99:.:.:4948,0,25057	4	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:768,107:875:99:.:.:700,0,30436	7	0	13	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:390,294:684:99:7362,0,12699	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:457,184:641:99:3672,0,16217	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,10:80:99:0|1:16579293_A_G:209,0,2909:16579293	0	0	19	2
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	.;.	.	.	.	.	.	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	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,10:80:99:0|1:16579293_A_G:209,0,2909:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,9:78:99:.:.:151,0,2126	3	0	18	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P,	.	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.999	D	0.001	D	.	.	.	.	.	.	-0.707	T	0.205	T	0.394	0.985	9.021	.	0.502	4.380	6.740	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2143	10056.01	467	chr1	16757526	.	C	G	10056.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.907e+00;DP=7504;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=40.50;MQRankSum=-1.159e+00;QD=2.85;ReadPosRankSum=0.494;SOR=0.679	GT:AD:DP:GQ:PL	0/1:336,61:397:99:746,0,9334	12	0	9	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	0/1:57,14:71:99:283,0,1819	2	7	12	0
chr1	22661144	22661144	G	A	exonic	C1QB	.	nonsynonymous SNV	C1QB:NM_000491:exon3:c.G520A:p.A174T	C1q deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.967	D	0.464	P	0.000	D	0.760	D	1.895	L	-0.96	T	-0.071	T	0.370	T	0.524	3.830	19.45	4.67	2.596	3.206	16.697	0.369	0.0505392237185	.	.	4.121e-05	0	0.0004	0	0	0	0	0	3.88e-05	6	154602	rs748553280	1.026e-05	1.094e-05	1.497e-05	5.5e-06	0.0002	6.16e-06	4.89e-06	7.281e-05	5.16e-05	0	0.0002	0	0	0	0	7.194e-06	0	0	6.576e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.323	0.13479	T	0.289	0.21277	T	0.967	0.56408	D	0.464	0.46572	P	0.000479	0.44119	D	0.188268	0.759624	0.34023	D	2.15	0.60148	M	-0.96	0.75553	T	-1.59	0.41428	N	0.409	0.46086	-0.0707	0.80765	T	0.370	0.72925	T	9	0.3370037	0.50830	T	0.050539	0.64283	D	0.369	0.68844	0.589	0.71749	0.779958167838	0.77793	0.5558971246438088	0.55516	1.30266694404	0.83060	0.402418494225	0.25406	T	0.188727	0.58813	T	-0.175866	0.24352	T	-0.205682	0.54107	T	0.394791543483734	0.28746	T	0.728627	0.35772	T	0.40801352	0.61283	0.27208537	0.53116	0.40801352	0.61284	0.27208537	0.53115	-6.199	0.47915	T	.	.	0.158	0.35034	B	.;.;.	.;.;.	3.401931	0.47146	22.4	0.99901575802480458	0.97350	0.91706	0.54091	D	AEFBI	0.891177	0.82690	D	0.417983409967066	0.62411	4.456561	0.437908780917897	0.63944	4.638665	0.0178099585138513	0.12991	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.67	4.67	0.58089	4.605000	0.60825	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.697	0.85198	892	0.26670	C1q domain|C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2865.98	34	chr1	22661144	.	G	A	2865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=938;ExcessHet=0.0000;FS=0.487;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=2.01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:111,115:226:99:2880,0,2676	20	0	1	0
chr1	23093952	23093952	G	C	exonic	LUZP1	.	nonsynonymous SNV	LUZP1:NM_001142546:exon3:c.C310G:p.R104G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.796	P	0.001	D	0.669	N	2.175	M	2.36	T	-0.420	T	0.250	T	0.625	3.088	16.31	5.25	1.601	3.744	16.031	0.166	0.0373381244063	.	.	8.242e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs769728664	8.209e-06	8.209e-06	5.445e-06	1.1e-05	0.0003	4.38e-06	3.46e-06	6.092e-05	2.521e-05	0	0	3.826e-05	0	0	0.0003	3.597e-06	3.311e-05	3.478e-05	6.575e-06	6.568e-06	1.285e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.055	0.61642	T	0.99	0.63424	D	0.796	0.58006	P	0.000557	0.43413	D	0.000000	0.669444	0.30377	N	1.935	0.51832	L	2.36	0.49919	T	-4.28	0.83830	D	0.622	0.63713	-0.4204	0.71380	T	0.250	0.62004	T	10	0.33190674	0.50405	T	0.037338	0.57553	D	0.166	0.42578	0.097	0.01334	0.639123189312	0.63615	0.08425073440238241	0.08359	0.737478978049	0.63061	0.363046079874	0.19828	T	0.578124	0.86142	D	-0.0577067	0.43266	T	-0.223814	0.52369	T	0.979437828063965	0.72830	D	0.937306	0.78341	D	0.4854378	0.66229	0.6185488	0.77787	0.4854378	0.66230	0.6185488	0.77788	-5.361	0.41587	T	.	.	0.233	0.46585	B	.;.;.;.	.;.;.;.	4.346652	0.66733	25.0	0.9988072089636022	0.95653	0.96830	0.71169	D	AEFBI	0.625214	0.60850	D	0.612903640945336	0.73990	6.057182	0.608924874024791	0.75589	6.336967	0.999921603781081	0.46280	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.17	5.25	0.73169	3.402000	0.52356	7.552000	0.60294	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.8647:0.1353	16.031	0.80379	827	0.39843	.;.;.;.	.	.	.	.	.	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	0.02381	1438.98	41	chr1	23093952	.	G	C	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=903;ExcessHet=0.0000;FS=2.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=0.495;SOR=0.569	GT:AD:DP:GQ:PL	0/1:90,63:155:99:1453,0,2028	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,27,4:31:87:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1346,172,87,1136,0,1121:26282320	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,4,5:34:39:0|1:26282334_TGGGGCCG_*:173,39,1075,0,878,1032:26282334	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,4,5:35:42:0|1:26282334_TGGGGCCG_*:170,42,1162,0,923,1073:26282334	8	0	0	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,0,5:35:99:0|1:26282334_TGGGGCCG_*:170,233,1342,0,1094,1073:26282334	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:9,4,25:38:99:0|1:26282278_C_T:983,843,1226,0,209,343:26282278	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,25,0:51:99:0|1:26282278_C_T:935,0,906,1015,924,1935:26282278	1	1	5	4
chr1	27373228	27373228	C	T	exonic	FCN3	.	nonsynonymous SNV	FCN3:NM_173452:exon4:c.G268A:p.A90T	Immunodeficiency due to ficolin 3 deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.52	P	0.149	B	0.920	N	1.000	N	1.035	L	-1.09	T	-0.947	T	0.239	T	0.088	1.099	9.484	0.21	-0.117	-1.624	8.085	0.061	0.0211610092999	.	.	1.657e-05	0	8.645e-05	0	0	0	0	6.067e-05	1.29e-05	2	154602	rs749146507	9.577e-06	1.026e-05	4.084e-06	1.513e-05	6.956e-05	5.56e-06	4.35e-06	2.995e-05	2.038e-05	2.987e-05	2.236e-05	0	0	0	0	5.396e-06	0	6.956e-05	6.571e-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	0.736	0.04226	T	0.566	0.08930	T	0.52	0.37518	P	0.149	0.34106	B	0.920433	0.08491	N	0.952504	1	0.08975	N	0.65	0.16133	N	-1.09	0.77206	T	-0.14	0.09135	N	0.104	0.13341	-0.9473	0.41431	T	0.239	0.60643	T	10	0.08215693	0.13530	T	0.021161	0.43885	T	0.061	0.17616	0.395	0.42099	0.663891511034	0.66106	0.34288823706604477	0.34201	0.130964207364	0.14771	0.277063697577	0.07086	T	0.028191	0.20479	T	-0.343745	0.05133	T	-0.550014	0.17325	T	0.0321264222485587	0.02326	T	0.193481	0.02277	T	0.19317082	0.41016	0.08538572	0.19711	0.19317082	0.41016	0.08538572	0.19711	-6.066	0.46828	T	.	.	0.073	0.05579	B	.;.	.;.	0.418058	0.07885	4.590	0.7968595995741562	0.12854	0.03063	0.07969	N	AEFDBHCI	0.263327	0.38090	N	-1.08350919953056	0.06946	0.3212605	-1.13527970601601	0.07035	0.3407389	0.998351669364671	0.36814	0.62174	0.39705	0	0.615948	0.52940	0	0.491614	0.08109	1	0.691587	0.68394	0	.	.	4.26	0.21	0.14507	-2.527000	0.01022	-1.224000	0.05978	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.198000	0.21837	0.0:0.635:0.0:0.365	8.085	0.29930	612	0.66786	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1031.98	35	chr1	27373228	.	C	T	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.316e+00;DP=787;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-2.149e+00;SOR=0.979	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1046,0,991	20	0	1	0
chr1	27885354	27885354	C	T	exonic	THEMIS2	.	nonsynonymous SNV	THEMIS2:NM_001039477:exon3:c.C295T:p.L99F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.009	B	0.007	B	.	.	1.000	N	.	.	.	.	-1.013	T	0.048	T	.	1.145	9.663	-1.84	-0.377	-1.484	2.157	0.005	0.00563123186706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.039	0.51112	D	0.009	0.15093	B	0.007	0.12992	B	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	-1.21	0.37566	N	0.111	0.10483	-1.0132	0.25912	T	0.048	0.20632	T	7	0.054255098	0.05747	T	0.005631	0.14560	T	0.012	0.01476	0.185	0.09388	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.173307	0.24735	T	-0.48672	0.23735	T	0.0442928969860077	0.04474	T	0.464054	0.13535	T	.	.	.	.	.	.	.	.	-5.612	0.42901	T	.	.	0.090	0.12797	B	.;.	.;.	-0.127752	0.03481	0.649	0.90888404165605985	0.20137	0.06139	0.12118	N	AEFDGBCIJ	0.031523	0.03388	N	-0.925249348750502	0.10254	0.4891224	-1.12340454148676	0.07254	0.3521881	0.999987135106083	0.51787	0.730579	0.87903	0	0.749866	0.99406	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	3.55	-1.84	0.07387	-1.276000	0.02923	-0.616000	0.08197	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3152:0.2765:0.3087:0.0997	2.157	0.03582	352	0.85375	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	373.98	45	chr1	27885354	.	C	T	373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=754;ExcessHet=0.0000;FS=5.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=0.532;SOR=1.326	GT:AD:DP:GQ:PL	0/1:40,17:57:99:388,0,989	20	0	1	0
chr1	31682954	31682954	C	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon37:c.G2518T:p.A840S,	.	.	415	1098	9	0	0	9	0.00408163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.991	D	0.87	P	0.111	N	0.999	N	0.785	N	-3.2	D	-0.095	T	0.705	D	0.254	0.423	6.299	2.94	1.264	-0.031	8.620	0.283	0.125819810045	0.0019	0.000599042	0.0019	0.0003	0.0006	0	0.0032	0.0029	0.0022	0.0004	0.0018176	281	154602	rs202008728	0.0019	0.0019	0.0019	0.0019	0.0022	0.0018	0.0018	0.0022	0.0021	0.0003	0.0003	0.0002	0	0.0028	0.0017	0.0022	0.0014	0.0003	0.0014	0.0014	0.0016	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0003	0	0.0003	0	0	0.0031	0	0.0024	0.0009	0	0.428	0.33254	T	0.797	0.13832	T	0.924	0.64070	P	0.722	0.61806	P	0.111420	0.19401	N	0.519373	0.998714	0.21964	N	0.13	0.08652	N	-3.2	0.93414	D	0.22	0.17417	N	0.197	0.22870	-0.0954	0.80204	T	0.705	0.89834	D	10	0.01049161	0.00233	T	0.12582	0.80740	D	0.283	0.60100	.	.	0.730639839714	0.72824	0.07716557848411372	0.07652	0.142384229396	0.16057	0.313031882048	0.12365	T	0.133602	0.64204	T	-0.323217	0.06638	T	-0.241358	0.50665	T	0.024013108393805	0.01147	T	0.683432	0.60710	T	0.036047786	0.04359	0.04188174	0.04860	0.036047786	0.04359	0.04188174	0.04860	-3.697	0.19274	T	.	.	0.077	0.12607	B	.;.;.	.;.;.	1.606362	0.20534	14.79	0.75854930483535854	0.11237	0.22700	0.21834	N	AEFDBI	0.210412	0.33630	N	-0.376492806774187	0.26310	1.43487	-0.397489535323177	0.25071	1.376624	0.99631214135648	0.34662	0.615465	0.37627	0	0.55458	0.17659	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	4.99	2.94	0.33188	-0.181000	0.09734	1.180000	0.24688	-0.195000	0.09104	0.000000	0.06391	0.664000	0.26031	0.622000	0.31948	0.0:0.7138:0.1943:0.0919	8.620	0.33017	749	0.51929	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1377.98	37	chr1	31682954	.	C	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.730e-01;DP=825;ExcessHet=0.0000;FS=0.715;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-2.370e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1392,0,1235	20	0	1	0
chr1	32215517	32215517	A	C	exonic	DCDC2B	.	nonsynonymous SNV	DCDC2B:NM_001099434:exon8:c.A928C:p.T310P,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.267	B	0.172	B	.	.	1.000	D	2.16	M	0.96	T	-1.022	T	0.111	T	0.29	1.837	12.10	1.04	0.070	2.356	6.968	0.141	0.00571445936377	.	.	6.661e-05	0	0	0	0	3.01e-05	0.0011	0.0003	5.17e-05	8	154602	rs774227457	4.721e-05	4.72e-05	3.404e-05	6.052e-05	0.0007	3.795e-05	3.477e-05	0.0003	0.0003	0	0	0	0	0	0.0007	1.889e-05	0.0001	0.0004	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.032	0.44694	D	0.006	0.70582	D	0.267	0.31683	B	0.172	0.35394	B	.	.	.	.	0.875237	0.28141	N	2.395	0.69210	M	0.96	0.42888	T	-3.77	0.71397	D	0.305	0.34444	-1.0221	0.23031	T	0.111	0.39982	T	9	0.06288296	0.08107	T	0.005714	0.14802	T	0.141	0.37795	0.15	0.05339	0.256283259241	0.25257	0.2069026731863885	0.20606	0.0735496549005	0.08248	0.308373600245	0.11660	T	0.223657	0.58787	T	-0.381559	0.03046	T	-0.485535	0.23860	T	0.101741090136214	0.12548	T	0.39666	0.09990	T	0.3619714	0.57986	0.38556954	0.63471	0.3619714	0.57986	0.38556954	0.63471	-3.13	0.11644	T	.	.	0.115	0.23113	B	.	.	2.485702	0.32060	18.93	0.87386470702032426	0.17190	0.72493	0.35481	D	AEFGBCI	0.341569	0.43801	N	-0.640041773533895	0.17750	0.9160577	-0.645640858356584	0.18326	0.9785191	0.997332619679746	0.35509	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.221012	0.04332	2	.	.	4.81	1.04	0.19220	2.401000	0.44166	2.387000	0.32519	-0.674000	0.04282	0.943000	0.32764	0.358000	0.24506	0.911000	0.44643	0.6416:0.2818:0.0766:0.0	6.968	0.23814	469	0.78175	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1252.98	39	chr1	32215517	.	A	C	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.547;DP=829;ExcessHet=0.0000;FS=0.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=1.20;SOR=0.649	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1267,0,1647	20	0	1	0
chr1	32368536	32368536	T	C	exonic	BSDC1	.	nonsynonymous SNV	BSDC1:NM_001143890:exon8:c.A886G:p.I296V	.	.	416	1103	3	0	0	3	0.00135808	.	.	3298355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.032	B	0.015	B	0.000	D	1.000	D	1.12	L	.	.	-0.982	T	0.130	T	0.116	1.795	11.96	5.45	2.205	3.977	9.519	0.089	0.000889465853901	0.0002	.	0.0001	0	8.646e-05	0	0	0.0002	0.0033	0.0002	0.0001164	18	154602	rs145781821	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	0	0.0002	0	0	1.872e-05	0.0017	0.0001	0.0003	0.0004	0.0001	0.0001	8.995e-05	0.0002	0.0002	8.172e-05	6.728e-05	0.0001	9.898e-05	0	0	0.0001	0	0	0	0	0.0002	0.0010	0.0002	0.447	0.12148	T	0.875	0.05622	T	0.01	0.20242	B	0.004	0.17295	B	0.000000	0.84330	D	0.053895	0.958983	0.38103	D	1.12	0.28775	L	.	.	.	-0.01	0.07155	N	0.245	0.29197	-0.9815	0.34655	T	0.130	0.43927	T	9	0.05038765	0.04763	T	8.89E-4	0.00822	T	0.089	0.25827	.	.	0.243972157842	0.24002	0.04911321010442493	0.04854	0.188642729574	0.21183	0.595946669579	0.52333	T	0.011262	0.10074	T	-0.388139	0.02765	T	-0.494987	0.22868	T	0.0530350081447464	0.06025	T	0.925307	0.72522	D	0.034815524	0.03980	0.052202918	0.08554	0.034815524	0.03979	0.052202918	0.08553	-5.608	0.44215	T	.	.	0.073	0.39220	B	.;.;.;.;.	.;.;.;.;.	2.545415	0.32935	19.19	0.98176532425732999	0.38907	0.93575	0.58592	D	AEFGBI	0.383664	0.46509	N	-0.0761440007079363	0.38442	2.251491	0.120782398449286	0.45614	2.821396	0.997081306935743	0.35260	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	3.982000	0.56618	5.001000	0.46597	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0784:0.0:0.9216	9.519	0.38287	477	0.77662	.;.;.;.;.	.	.	.	.	.	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	0.02381	1030.98	36	chr1	32368536	.	T	C	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.263e+00;DP=822;ExcessHet=0.0000;FS=1.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-8.720e-01;SOR=0.972	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1045,0,1178	20	0	1	0
chr1	36308160	36308160	C	G	exonic	SH3D21	.	nonsynonymous SNV	SH3D21:NM_024676:exon5:c.C257G:p.P86R	.	.	414	1079	27	2	0	31	0.0141617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.97	D	0.147	U	1.000	N	1.665	L	2.9	T	-1.087	T	0.050	T	0.704	3.456	17.71	5.02	2.491	1.965	14.188	0.156	0.00993666005988	0.0057	0.00199681	0.0052	0.0005	0.0025	0	0.0054	0.0059	0.0055	0.0065	0.0013389	207	154602	rs76695875	0.0046	0.0044	0.0044	0.0047	0.0067	0.0045	0.0044	0.0057	0.0055	0.0004	0.0014	0.0068	2.798e-05	0.0022	0.0067	0.0049	0.0046	0.0062	0.0029	0.0029	0.0033	0.0025	0.0058	0.0027	0.0026	0.0041	0.0037	0.0011	0	0.0018	0.0084	0.0002	0.0015	0.0034	0.0042	0.0033	0.0058	0.003	0.68238	D	0.013	0.63109	D	0.994	0.66517	D	0.854	0.60866	P	0.146926	0.18097	U	0.509628	1	0.81001	D	.	.	.	2.9	0.10101	T	-3.83	0.72120	D	0.582	0.61002	-1.0868	0.06084	T	0.050	0.21182	T	10	0.009480596	0.00214	T	0.009937	0.25878	T	0.156	0.40720	.	.	0.539478914628	0.53600	0.48378686536910653	0.48298	0.405877712896	0.41475	0.518329381943	0.41391	T	.	.	.	-0.344608	0.05075	T	-0.266691	0.48154	T	0.0124233849397936	0.00204	T	0.933007	0.75759	D	.	.	.	.	.	.	.	.	-9.139	0.68587	D	.	.	0.228	0.46049	B	.;.	.;.	4.039143	0.59786	24.1	0.99840426847059882	0.92057	0.78089	0.38476	D	AEFDBI	0.163636	0.28993	N	0.524277252940655	0.68531	5.229837	0.501612177123755	0.68099	5.173562	0.999998091427557	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	1.910000	0.39557	6.002000	0.52504	0.596000	0.33519	0.959000	0.33545	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	14.188	0.65160	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	717.98	43	chr1	36308160	.	C	G	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=984;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=1.05;SOR=0.678	GT:AD:DP:GQ:PL	0/1:46,32:78:99:732,0,1167	20	0	1	0
chr1	38018559	38018559	G	C	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon4:c.G324C:p.K108N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.972	D	0.000	D	1.000	D	3.345	M	.	.	-0.227	T	0.449	T	0.477	3.565	18.17	2.22	0.497	0.252	9.297	0.490	0.0167503973626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0022	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0006	4.502e-05	0.0002	5.069e-05	0	0.0002	0.0007	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.19	0.88972	M	.	.	.	-4.29	0.76414	D	0.835	0.83066	-0.2270	0.76966	T	0.449	0.78378	T	9	0.83418137	0.82576	D	0.01675	0.38152	T	0.490	0.77720	0.658	0.79585	0.617871938043	0.61477	0.7476237047205977	0.74708	0.921248380214	0.71459	0.757096290588	0.75498	T	0.412309	0.76651	T	0.0450001	0.57697	T	-0.173137	0.57156	T	0.995210707187653	0.87030	D	0.915408	0.69775	D	0.9537454	0.96647	0.87148213	0.92969	0.9537454	0.96648	0.87148213	0.92969	-9.692	0.72047	D	.	.	0.956	0.87520	P	.	.	3.385722	0.46848	22.4	0.99798773293668863	0.88372	0.86532	0.45832	D	AEFBI	0.315619	0.42014	N	0.307375534586297	0.56526	3.817	0.217027884145324	0.50791	3.267573	0.186501081710576	0.17944	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	2.22	0.27116	0.341000	0.19652	2.649000	0.33803	-0.102000	0.15922	0.995000	0.38783	1.000000	0.68203	0.994000	0.71098	0.729:0.0:0.271:0.0	9.297	0.36983	409	0.82198	.	.	.	.	.	.	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	0.0625	408.29	34	chr1	38018559	.	G	C	408.29	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.071e+00;DP=1434;ExcessHet=0.1072;FS=158.603;InbreedingCoeff=-0.1270;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=2.46;ReadPosRankSum=1.48;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,19:100:99:0|1:38018559_G_C:418,0,3211:38018559	14	0	2	5
chr1	38018561	38018564	GGGT	-	exonic	UTP11	.	frameshift deletion	UTP11:NM_016037:exon4:c.326_329del:p.R109Mfs*10,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.578e-05	6.777e-05	2.184e-05	9.651e-06	3e-05	1.051e-05	8.78e-06	1.217e-05	1.033e-05	3e-05	0	0	0	0	0	1.894e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	403.94	34	chr1	38018560	.	AGGGT	A	403.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.459e+00;DP=1682;ExcessHet=0.0000;FS=60.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.04;ReadPosRankSum=-5.730e-01;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,19:100:99:0|1:38018559_G_C:418,0,3211:38018559	20	0	1	0
chr1	38018564	38018564	-	CCCC	exonic	UTP11	.	frameshift insertion	UTP11:NM_016037:exon4:c.329_330insCCCC:p.A111Pfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	366.94	39	chr1	38018564	.	T	TCCCC	366.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.718e+00;DP=1111;ExcessHet=0.0000;FS=55.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.78;ReadPosRankSum=-9.200e-02;SOR=5.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,18:97:99:0|1:38018559_G_C:381,0,3165:38018559	20	0	1	0
chr1	39511179	39511179	C	T	exonic	BMP8A	.	stopgain	BMP8A:NM_181809:exon2:c.C340T:p.R114X,	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	U	1.000	A	.	.	.	.	.	.	.	.	.	5.134	32	4.27	1.159	3.312	14.623	.	.	.	0.000199681	0	0	0	0	0	0	0	0	0.0001153	3	26028	rs547631836	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0001	0.0001	3.846e-05	0.0001	0.0073	0	0	0.0006	4.468e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	0	0	0.0002	0.0072	0	0	0	7.382e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.017357	0.27746	U	0.401617	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.118	0.10769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360516	0.87295	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.793828	0.96867	36	0.99809330608905	0.89353	0.83669	0.42771	D	AEFDGBI	0.091886	0.18607	N	0.691264780835633	0.79061	6.998659	0.448872182114832	0.64645	4.724397	0.989309094174113	0.31782	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.2	4.27	0.50009	3.503000	0.53100	0.631000	0.20228	0.505000	0.23025	1.000000	0.71638	0.128000	0.22971	0.367000	0.26044	0.1471:0.8529:0.0:0.0	14.623	0.68202	713	0.56348	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	272.98	33	chr1	39511179	.	C	T	272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.551e+00;DP=532;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.59;MQRankSum=-7.840e-01;QD=12.41;ReadPosRankSum=0.936;SOR=0.646	GT:AD:DP:GQ:PL	0/1:9,13:22:99:287,0,198	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,10,0:10:30:.:.:318,30,0,318,30,318	0	12	8	0
chr1	42577087	42577087	C	T	exonic	CCDC30	.	nonsynonymous SNV	CCDC30:NM_001080850:exon8:c.C923T:p.T308M	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.585	P	0.123	B	0.258	N	0.997	N	1.5	L	0.85	T	-1.033	T	0.090	T	0.272	1.503	10.98	4.12	0.853	0.626	6.392	0.051	0.0209266334793	.	0.000399361	0.0001	0	0	0	0	4.52e-05	0	0.0009	0.0001229	19	154602	rs562709953	9.099e-05	9.235e-05	7.488e-05	0.0001	0.0010	7.824e-05	7.306e-05	0.0008	0.0007	2.987e-05	0	0	5.042e-05	0	0.0010	3.328e-05	8.28e-05	0.0010	6.567e-05	6.562e-05	7.71e-05	5.372e-05	0.0010	3.515e-05	2.615e-05	0.0004	0.0003	2.406e-05	0	0	0	0	0	0	5.881e-05	0	0.0010	0.133	0.26409	T	0.195	0.28032	T	0.585	0.38912	P	0.123	0.32463	B	0.257600	0.15380	N	0.691542	0.997	0.22861	N	1.645	0.42016	L	0.84	0.47477	T	-2.0	0.46146	N	0.13	0.12770	-1.0333	0.19395	T	0.090	0.34683	T	10	0.022723556	0.00575	T	0.020927	0.43616	T	0.051	0.14325	.	.	0.372268306217	0.36840	0.09408927095124495	0.09340	0.295400472236	0.31942	0.34853670001	0.17707	T	0.039425	0.25185	T	-0.470046	0.00849	T	-0.504313	0.21902	T	0.0562803819775581	0.06570	T	0.657134	0.26688	T	0.022411814	0.00902	0.06752873	0.13980	0.022411814	0.00902	0.06752873	0.13980	-10.155	0.74835	D	.	.	0.087	0.10979	B	.;.;.	.;.;.	1.315986	0.17197	13.02	0.90058717283373313	0.19345	0.16163	0.19260	N	AEFHCI	0.047229	0.07929	N	-0.434043917373202	0.24284	1.310149	-0.341054330720275	0.26787	1.481875	7.70530746582929E-4	0.07776	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.99	4.12	0.47504	0.834000	0.27171	0.105000	0.14702	-0.187000	0.09635	0.446000	0.26534	0.002000	0.18203	0.750000	0.35786	0.1458:0.7013:0.0:0.1528	6.392	0.20796	717	0.55835	.;.;.	.	.	.	.	.	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	0.02381	1210.98	37	chr1	42577087	.	C	T	1210.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.095e+00;DP=860;ExcessHet=0.0000;FS=1.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-1.178e+00;SOR=0.849	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1225,0,1449	20	0	1	0
chr1	45088040	45088040	G	A	exonic	ZSWIM5	.	nonsynonymous SNV	ZSWIM5:NM_020883:exon2:c.C793T:p.R265C,	.	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.969	D	0.000	D	1.000	D	2.78	M	0.64	T	-0.301	T	0.271	T	0.972	5.049	29.9	4.61	2.503	9.813	18.335	0.598	0.0767974187746	0.0041	0.00239617	0.0027	0.0008	0.0029	0	0.0008	0.0038	0.0033	0.0014	0.0028266	437	154602	rs116809634	0.0043	0.0043	0.0044	0.0042	0.0087	0.0042	0.0042	0.0068	0.0061	0.0008	0.0030	0.0021	2.519e-05	0.0004	0.0087	0.0050	0.0047	0.0011	0.0032	0.0032	0.0035	0.0029	0.0052	0.0030	0.0029	0.0048	0.0046	0.0012	0	0.0040	0.0014	0	0.0007	0.0068	0.0052	0.0033	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.885	0.83555	M	0.64	0.52867	T	-5.87	0.88630	D	0.89	0.88909	-0.3013	0.74949	T	0.271	0.64277	T	10	0.03297335	0.01461	T	0.076797	0.72618	D	0.598	0.84074	.	.	0.858212518775	0.85684	0.7835790356711932	0.78308	0.550900486598	0.51946	0.836088776588	0.87498	D	0.572703	0.85878	D	-0.00590948	0.50838	T	0.220654	0.84205	D	0.0301943757762457	0.02019	T	0.956004	0.83260	D	0.6396926	0.74814	0.48607525	0.70255	0.6396926	0.74815	0.48607525	0.70255	-10.288	0.75618	D	.	.	0.681	0.72201	P	.	.	5.622251	0.92614	32	0.99934805239166158	0.99579	0.99230	0.93150	D	AEFBI	0.946912	0.95689	D	0.902704048203018	0.91890	11.11985	0.839654726346057	0.92398	11.40319	0.999999700124564	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.61	4.61	0.56724	10.003000	0.99689	8.605000	0.77744	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.335	0.90227	407	0.82314	.	.	.	.	.	.	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	0.04762	3796.11	33	chr1	45088040	.	G	A	3796.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.76;DP=984;ExcessHet=0.1072;FS=1.340;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=2.01;SOR=0.775	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1965,0,1788	19	0	2	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,6,8:14:99:1|0:50419101_CCGGCGG_C:646,231,317,270,0,228:50419101	0	2	0	0
chr1	52238879	52238879	G	T	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.G1462T:p.V488F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.96	D	0.504	P	0.079	N	0.850	D	0.805	L	0.66	T	-0.847	T	0.133	T	0.325	2.174	13.23	2.26	0.734	1.553	8.669	0.116	0.0357224421694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.562e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.001	0.78490	D	0.169	0.30534	T	0.933	0.55278	P	0.307	0.47761	B	0.079388	0.20987	N	0.376195	0.849958	0.35205	D	0.975	0.24501	L	0.66	0.54540	T	-2.07	0.47344	N	0.212	0.37613	-0.8467	0.52195	T	0.133	0.44524	T	10	0.16734391	0.31224	T	0.035722	0.56534	D	0.116	0.32463	0.072	0.00442	0.0675242888579	0.06100	0.3204716920825338	0.31960	0.3725497707	0.38744	0.445590794086	0.31342	T	0.010362	0.09360	T	-0.0747307	0.40567	T	-0.345122	0.39764	T	0.582549247169905	0.35717	D	0.885811	0.61165	D	0.17589852	0.38474	0.15219906	0.35819	0.17589852	0.38473	0.15219906	0.35819	-3.995	0.23729	T	.	.	0.068	0.19679	B	.;.;.	.;.;.	2.443070	0.31445	18.74	0.992707790190826	0.57559	0.56401	0.30107	D	AEFDGBCIJ	0.112885	0.22296	N	-0.127336797398299	0.36205	2.089604	-0.0540156029105646	0.37317	2.18331	0.999992540603498	0.74766	0.730579	0.87903	0	0.480063	0.06835	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.57	2.26	0.27418	1.629000	0.36683	3.881000	0.40240	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.2149:0.1144:0.6707:0.0	8.669	0.33303	335	0.86220	.;.;.	.	.	.	.	.	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	0.04762	64.1	40	chr1	52238879	.	G	T	64.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.078e+00;DP=888;ExcessHet=0.1072;FS=104.859;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=-2.710e-01;SOR=7.111	GT:AD:DP:GQ:PL	0/1:53,15:68:55:55,0,1530	19	0	2	0
chr1	55008300	55008300	A	G	exonic	BSND	.	nonsynonymous SNV	BSND:NM_057176:exon4:c.A635G:p.N212S,	Bartter syndrome, type 4a, Autosomal recessive;Sensorineural deafness with mild renal dysfunction, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	864626	Bartter_disease_type_4A|not_provided	MONDO:MONDO:0011242,MedGen:C1865270,OMIM:602522,Orphanet:112|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.71	T	0.003	B	0.005	B	0.050	N	1.000	N	1.1	L	-0.05	T	-0.938	T	0.151	T	0.0	-0.491	1.745	-7.96	-2.112	-1.614	13.856	0.115	0.0269010853873	0.0002	0.000798722	0.0003	9.766e-05	8.657e-05	0.0002	0	0.0001	0	0.0012	0.0002523	39	154602	rs200071888	0.0001	0.0001	8.031e-05	0.0001	0.0008	0.0001	9.415e-05	0.0007	0.0006	0.0001	6.708e-05	0	0.0003	1.872e-05	0.0005	5.845e-05	0.0001	0.0008	0.0002	0.0002	6.425e-05	0.0002	0.0017	0.0001	8.714e-05	0.0008	0.0006	0.0001	0	0	0	0.0006	0	0	8.821e-05	0	0.0017	0.821	0.02951	T	0.739	0.05000	T	0.003	0.11197	B	0.005	0.11217	B	0.049701	0.02002	N	1.918670	1	0.08975	N	1.385	0.34509	L	-0.05	0.63403	T	0.05	0.06369	N	0.034	0.00942	-0.9384	0.42869	T	0.151	0.47839	T	10	0.006857872	0.00156	T	0.026901	0.49766	D	0.115	0.32236	.	.	0.26547132957	0.26150	0.02469391603684611	0.02420	0.064288560921	0.07168	0.247981488705	0.03558	T	0.251416	0.62167	T	-0.603125	0.00140	T	-0.695471	0.06077	T	0.0153715052061801	0.00343	T	0.144286	0.01174	T	0.018436713	0.00366	0.028408796	0.01075	0.018436713	0.00365	0.028408796	0.01075	-1.001	0.01001	T	.	.	.	.	.	.	.	-1.604471	0.00238	0.004	0.24483543201894112	0.01085	0.00415	0.02058	N	AEFDBI	0.020970	0.00883	N	-1.8209160803396	0.00496	0.0213463	-1.92338314786077	0.00440	0.01945936	0.99823833091657	0.36618	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.83	-7.96	0.01011	-1.555000	0.02274	-2.136000	0.04160	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2273:0.0:0.6737:0.0991	13.856	0.63027	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3735.08	34	chr1	55008300	.	A	G	3735.08	.	AC=2;AF=0.048;AN=42;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.41;SOR=0.993	GT:AD:DP:GQ:PL	1/1:0,127:127:99:3763,381,0	20	1	0	0
chr1	59872925	59872925	G	A	exonic	HOOK1	.	nonsynonymous SNV	HOOK1:NM_015888:exon22:c.G2147A:p.R716K,	.	.	442	1072	8	0	0	8	0.00371747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.000	D	1.000	D	1.525	L	2.23	T	-1.151	T	0.100	T	0.723	5.602	36	5.69	2.671	6.556	19.817	0.260	0.0119369708239	.	0.000199681	0.0019	0	0.0024	0	0	0.0001	0	0.0047	0.0002781	43	154602	rs545100232	0.0004	0.0004	0.0003	0.0005	0.0046	0.0004	0.0003	0.0042	0.0040	0	0.0001	8.091e-05	0	0	0.0023	0.0001	0.0005	0.0046	0.0002	0.0002	0.0001	0.0003	0.0044	0.0002	0.0002	0.0029	0.0025	4.822e-05	0	0.0003	0	0	0	0.0034	0.0001	0	0.0044	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.99	0.53851	M	2.23	0.18083	T	-2.02	0.46503	N	0.349	0.39052	-1.1508	0.01001	T	0.100	0.37290	T	10	0.010874927	0.00240	T	0.011937	0.30057	T	0.260	0.57221	.	.	0.424670345773	0.42081	0.4470359129023934	0.44621	0.336999979067	0.35698	0.594009280205	0.52060	T	0.175472	0.52507	T	-0.272341	0.11498	T	-0.163846	0.58004	T	0.125838294930978	0.14992	T	0.80292	0.44963	T	0.679827	0.76960	0.7096194	0.82873	0.679827	0.76961	0.7096194	0.82874	-4.977	0.36589	T	.	.	0.148	0.32733	B	.	.	3.991397	0.58744	24.0	0.9978833885664572	0.87396	0.97855	0.77635	D	AEFBI	0.844571	0.76152	D	0.699413339106223	0.79592	7.110675	0.718105024196149	0.83753	8.105436	0.999990305473362	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	6.671000	0.74311	9.735000	0.81414	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.817	0.96567	856	0.34373	.	.	.	.	.	.	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	0.02381	473.98	34	chr1	59872925	.	G	A	473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=751;ExcessHet=0.0000;FS=1.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=-5.850e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:18,20:38:99:488,0,412	20	0	1	0
chr1	78662843	78662843	A	C	exonic	IFI44	.	nonsynonymous SNV	IFI44:NM_006417:exon8:c.A1253C:p.D418A,	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.852	P	0.001	N	1.000	D	2.585	M	2.53	T	-0.496	T	0.284	T	0.589	3.712	18.85	3.52	1.811	5.577	10.396	0.244	.	0.0003	0.00239617	0.0011	0	0.0008	0.0001	0	0.0005	0.0022	0.0056	0.0009961	154	154602	rs140765185	0.0005	0.0005	0.0004	0.0007	0.0047	0.0005	0.0005	0.0043	0.0042	2.989e-05	0.0006	0	0	0	0.0014	0.0002	0.0006	0.0047	0.0004	0.0004	0.0003	0.0005	0.0057	0.0003	0.0003	0.0040	0.0034	0	0	0.0006	0	0	0	0	0.0003	0.0005	0.0057	0.004	0.65419	D	0.011	0.64786	D	0.997	0.70673	D	0.852	0.60758	P	0.001027	0.40562	N	0.201718	0.747721	0.33893	D	1.87	0.49600	L	2.53	0.14038	T	-6.11	0.90023	D	0.474	0.50958	-0.4956	0.68808	T	0.284	0.65577	T	10	0.013541102	0.00287	T	.	.	.	0.263	0.57612	.	.	0.561180645722	0.55780	0.49931070464097355	0.49852	0.070108175721	0.07852	0.504220962524	0.39416	T	0.42606	0.77597	T	-0.404799	0.02153	T	-0.352737	0.38891	T	0.10978070694871	0.13401	T	0.656934	0.26653	T	0.3441317	0.56606	0.28045133	0.54021	0.3441317	0.56606	0.28045133	0.54020	-11.98	0.84754	D	.	.	0.303	0.53261	B	.	.	3.667985	0.52141	23.2	0.99524717737305313	0.69469	0.97504	0.75178	D	AEFBI	0.565192	0.57168	D	0.290378289050092	0.55660	3.730057	0.266364551237066	0.53586	3.526791	0.999912636647348	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.52	3.52	0.39415	5.313000	0.65584	5.453000	0.48651	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	10.396	0.43385	594	0.68584	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1141.98	40	chr1	78662843	.	A	C	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.240e-01;DP=808;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.545;SOR=0.566	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1156,0,990	20	0	1	0
chr1	81990481	81990481	G	T	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.G3548T:p.G1183V	.	.	425	1055	42	0	0	42	0.0195167	.	.	3211183	ADGRL2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.495	L	-0.38	T	-0.807	T	0.191	T	0.571	1.647	11.47	4.6	1.284	7.343	16.018	0.362	.	0.0008	0.00259585	0.0021	9.61e-05	0.0005	0	0	0.0013	0.0055	0.0091	0.0018305	283	154602	rs143448377	0.0014	0.0014	0.0011	0.0016	0.0102	0.0013	0.0013	0.0083	0.0081	0.0001	0.0008	0.0030	2.519e-05	9.36e-05	0.0102	0.0008	0.0020	0.0088	0.0010	0.0010	0.0009	0.0011	0.0091	0.0009	0.0008	0.0070	0.0062	0.0002	0	0.0010	0.0012	0.0002	9.414e-05	0.0102	0.0010	0.0028	0.0091	0.001	0.78490	D	0.05	0.48594	T	0.995	0.67487	D	0.929	0.66367	D	0.000338	0.45700	D	0.187285	1	0.81001	D	.	.	.	-0.46	0.70597	T	-4.03	0.76740	D	0.684	0.70878	-0.8069	0.54736	T	0.191	0.54359	T	10	0.0074394643	0.00169	T	.	.	.	0.539	0.80723	.	.	0.082315109003	0.07666	0.4814075198055706	0.48060	0.567196384469	0.52991	0.55849480629	0.47055	T	0.067859	0.82202	T	-0.247787	0.14371	T	-0.122308	0.61613	T	0.141194857536656	0.16377	T	0.914708	0.73561	D	0.56956995	0.71037	0.5168769	0.72086	0.56956995	0.71038	0.5168769	0.72087	-3.675	0.22542	T	.	.	0.162	0.37633	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.611038	0.51059	23.0	0.99109637766004166	0.52699	0.92818	0.56620	D	AEFGBCI	0.951242	0.96562	D	0.221703935337338	0.52252	3.400531	0.261948915020974	0.53333	3.502685	0.999349580085339	0.39222	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.53	4.6	0.56512	7.460000	0.79850	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.0:0.1392:0.8607:0.0	16.018	0.80255	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5990.68	35	chr1	81990481	.	G	T	5990.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.524;DP=1194;ExcessHet=0.3300;FS=1.111;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.895;SOR=0.825	GT:AD:DP:GQ:PL	0/1:91,101:192:99:2455,0,2288	18	0	3	0
chr1	81990915	81990915	C	G	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.C3982G:p.P1328A	.	.	438	1046	37	1	0	39	0.0183013	.	.	3210903	ADGRL2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.128	B	0.075	B	0.160	N	1.000	N	1.445	L	-0.32	T	-0.960	T	0.114	T	0.176	0.697	7.721	5.25	2.467	4.434	18.884	0.057	.	0.0008	0.00239617	0.0018	9.617e-05	0.0005	0	0	0.0012	0.0055	0.0076	0.0016171	250	154602	rs142267708	0.0012	0.0012	0.0010	0.0015	0.0087	0.0012	0.0012	0.0072	0.0070	0.0001	0.0008	0.0030	0	9.361e-05	0.0087	0.0008	0.0019	0.0077	0.0009	0.0009	0.0008	0.0009	0.0077	0.0008	0.0007	0.0057	0.0051	0.0002	0	0.0009	0.0012	0.0002	9.407e-05	0.0102	0.0009	0.0024	0.0077	0.375	0.18061	T	0.206	0.27056	T	0.128	0.27003	B	0.075	0.28327	B	0.159877	0.17697	N	0.561955	1	0.81001	D	.	.	.	-0.42	0.70717	T	-2.27	0.50666	N	0.302	0.34120	-0.9602	0.39143	T	0.114	0.40650	T	10	0.0053347647	0.00117	T	.	.	.	0.112	0.31546	.	.	0.082315109003	0.07666	0.4140615702400013	0.41322	0.11031533871	0.12446	0.379887998104	0.22241	T	0.056903	0.80086	T	-0.416679	0.01797	T	-0.366741	0.37271	T	0.0454788217630323	0.04690	T	0.911709	0.69400	D	0.048075262	0.08320	0.07846932	0.17579	0.048075262	0.08320	0.07846932	0.17578	-4.424	0.32472	T	.	.	0.079	0.11461	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.688237	0.21508	15.23	0.84900520384378553	0.15565	0.43642	0.27143	N	AEFBCI	0.589979	0.58665	D	0.00965783698767059	0.42293	2.545568	-0.00654706581580577	0.39417	2.336899	0.999451034309693	0.39788	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	4.688000	0.61403	4.927000	0.46095	0.599000	0.40250	0.296000	0.25288	0.578000	0.25607	0.855000	0.40485	0.0:1.0:0.0:0.0	18.884	0.92338	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	6723.68	35	chr1	81990915	.	C	G	6723.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.83;DP=1120;ExcessHet=0.3300;FS=1.110;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.236e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/1:71,67:138:99:2042,0,2080	18	0	3	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.089	N	0.999	N	-0.345	N	3.28	T	-0.932	T	0.002	T	0.048	2.206	13.34	2.91	0.308	0.889	1.797	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	606.1	33	chr1	85158755	.	A	G	606.1	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.537e+00;DP=1578;ExcessHet=3.5521;FS=65.892;InbreedingCoeff=-0.2459;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=-3.190e-01;SOR=9.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,14:85:48:.:.:48,0,2003	13	0	8	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,26:82:99:.:.:300,0,705	1	0	17	3
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,277,0,0:277:99:.:.:11513,835,0,11513,835,11513,11513,835,11513,11513	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,277,0,0:277:99:.:.:11513,835,0,11513,835,11513,11513,835,11513,11513	0	12	6	0
chr1	91992306	91992306	G	A	exonic	BRDT	.	nonsynonymous SNV	BRDT:NM_001242807:exon13:c.G1969A:p.V657I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.002	B	0.001	B	0.003	N	1.000	N	-0.11	N	3.32	T	-0.938	T	0.003	T	0.044	-2.638	0	-1.06	-0.852	-0.682	2.753	0.013	0.00129701655789	.	.	2.616e-05	0	8.946e-05	0.0001	0	1.602e-05	0	0	2.59e-05	4	154602	rs768666658	3.67e-05	5.341e-05	4.379e-05	2.953e-05	4.158e-05	2.823e-05	2.548e-05	3.152e-05	2.807e-05	3.456e-05	3.254e-05	0	0	0	0	4.158e-05	7.088e-05	0	4.628e-05	4.604e-05	7.749e-05	1.355e-05	7.361e-05	2.121e-05	1.534e-05	2.85e-05	1.861e-05	2.427e-05	0	0	0	0	0	0	7.361e-05	0.0005	0	0.88	0.02544	T	0.714	0.05622	T	0.0	0.02946	B	0.0	0.01387	B	0.003095	0.00938	N	4.117290	1	0.08975	N	0	0.06538	N	3.27	0.06602	T	-0.09	0.08340	N	0.026	0.01135	-0.9381	0.42916	T	0.003	0.01026	T	10	0.035241544	0.01764	T	0.001297	0.01809	T	0.013	0.01715	0.091	0.01065	0.255777322467	0.25185	0.062203542334211825	0.06160	0.0652916421919	0.07291	0.384058952332	0.22830	T	0.03297	0.22716	T	-0.457967	0.01012	T	-0.895615	0.00534	T	0.0185649205852812	0.00571	T	0.320168	0.06459	T	0.01796324	0.00319	0.019609887	0.00096	0.01796324	0.00319	0.019609887	0.00096	-3.511	0.16826	T	.	.	0.066	0.02670	B	.;.;.;.;.	.;.;.;.;.	-0.641100	0.01463	0.090	0.1621555036859568	0.00426	0.00227	0.01275	N	AEFBI	0.012607	0.00142	N	-2.06725527979849	0.00151	0.00646745	-2.09415292714477	0.00192	0.008443901	2.86255458146311E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.63	-1.06	0.09491	-0.697000	0.05199	-1.212000	0.06011	-4.563000	0.00026	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.4078:0.0:0.2724:0.3198	2.753	0.04962	601	0.67921	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	809.98	86	chr1	91992306	.	G	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e-01;DP=1287;ExcessHet=0.0000;FS=1.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-1.156e+00;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,39:85:99:0|1:91992286_C_T:824,0,1001:91992286	20	0	1	0
chr1	93567485	93567485	G	A	exonic	BCAR3	.	nonsynonymous SNV	BCAR3:NM_001308251:exon7:c.C1121T:p.T374I	.	.	434	1059	28	1	0	30	0.0139665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.006	B	0.009	B	0.758	N	1.000	N	0.55	N	1.63	T	-0.969	T	0.022	T	0.13	1.816	12.03	2.55	0.823	0.162	9.619	0.033	0.00678956333213	0.0008	0.00159744	0.0021	0.0004	0.0035	0	0	0.0026	0.0011	0.0021	0.0019017	294	154602	rs148402464	0.0015	0.0015	0.0013	0.0016	0.0250	0.0014	0.0014	0.0216	0.0204	0.0003	0.0028	0.0161	0	0.0002	0.0250	0.0010	0.0029	0.0027	0.0015	0.0015	0.0014	0.0015	0.0030	0.0013	0.0012	0.0023	0.0021	0.0002	0	0.0030	0.0153	0	0	0.0204	0.0014	0.0033	0.0014	0.081	0.33418	T	0.179	0.29540	T	0.004	0.12183	B	0.009	0.14300	B	0.757912	0.06523	N	1.096050	1	0.08975	N	0.69	0.16971	N	1.63	0.28002	T	-0.86	0.24460	N	0.228	0.25622	-0.9694	0.37324	T	0.022	0.09330	T	10	0.005708635	0.00127	T	0.00679	0.17953	T	0.033	0.08068	.	.	0.252829632966	0.24901	0.18899543966685334	0.18817	0.140310390086	0.15819	0.335897445679	0.15823	T	0.087652	0.37988	T	-0.587118	0.00174	T	-0.621369	0.11078	T	0.00950938775342132	0.00123	T	0.60094	0.24712	T	0.091962434	0.21564	0.08814213	0.20533	0.091962434	0.21563	0.08814213	0.20533	-7.122	0.55193	T	.	.	0.075	0.08465	B	.;.;.;.;.	.;.;.;.;.	1.378139	0.17892	13.43	0.94764664486338368	0.25478	0.03954	0.09357	N	ALL	0.079410	0.16038	N	-0.760733369956751	0.14343	0.7137138	-0.719846110004951	0.16466	0.8712382	0.999999999999995	0.74766	0.730579	0.87903	0	0.653731	0.59785	0	0.643519	0.47002	0	0.648885	0.59868	0	.	.	5.85	2.55	0.29757	0.567000	0.23311	.	.	0.676000	0.76740	0.001000	0.13787	0.062000	0.22056	0.922000	0.45779	0.3116:0.0:0.6884:0.0	9.619	0.38874	317	0.87119	.;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1373.98	39	chr1	93567485	.	G	A	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.363e+00;DP=844;ExcessHet=0.0000;FS=3.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.57;ReadPosRankSum=-6.850e-01;SOR=0.300	GT:AD:DP:GQ:PL	0/1:27,47:74:99:1388,0,756	20	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	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	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,22:103:99:0|1:99884396_T_C:399,0,3134:99884396	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,22:106:99:0|1:99884396_T_C:390,0,3295:99884396	6	0	15	0
chr1	103533845	103533845	-	A	exonic	RNPC3	.	frameshift insertion	RNPC3:NM_017619:exon3:c.347dupA:p.R120Kfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	229.63	54	chr1	103533844	.	GA	G,GAA	229.63	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-4.500e-01;DP=1214;ExcessHet=1.1607;FS=2.736;InbreedingCoeff=-0.1291;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=-4.790e-01;SOR=0.413	GT:AD:DP:GQ:PL	0/1:41,6,0:47:21:21,0,1328,144,1346,1490	16	0	4	0
chr1	108699434	108699434	G	A	exonic	PRPF38B	.	nonsynonymous SNV	PRPF38B:NM_001349762:exon6:c.G620A:p.R207K	.	.	422	1080	20	0	0	20	0.00917431	.	.	706544	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.000	D	1.000	D	0.695	N	4.25	T	-1.011	T	0.013	T	0.267	1.684	11.59	5.69	2.698	6.000	15.009	0.054	.	0.0069	0.00339457	0.0079	0.0013	0.0046	0.0001	0.0019	0.0101	0.0035	0.0119	0.0073285	1133	154602	rs111751551	0.0094	0.0094	0.0094	0.0093	0.0112	0.0092	0.0092	0.0107	0.0104	0.0014	0.0041	0.0018	2.519e-05	0.0019	0.0054	0.0106	0.0091	0.0112	0.0060	0.0061	0.0066	0.0055	0.0103	0.0057	0.0056	0.0097	0.0094	0.0018	0.0066	0.0048	0.0012	0.0004	0.0009	0	0.0103	0.0019	0.0087	0.096	0.31088	T	0.127	0.35082	T	0.002	0.09854	B	0.003	0.08700	B	0.000001	0.84330	D	0.049672	0.99997	0.58761	D	0.55	0.14455	N	4.25	0.13434	T	-1.62	0.38924	N	0.27	0.31253	-1.0111	0.26573	T	0.013	0.05225	T	10	0.0049079657	0.00105	T	.	.	.	0.054	0.15330	.	.	0.143184338766	0.13958	0.06784419936348626	0.06722	0.256966227711	0.28266	0.82482278347	0.85768	D	0.021192	0.16545	T	-0.514173	0.00475	T	-0.501956	0.22145	T	0.0133942133729663	0.00242	T	0.831217	0.49863	T	0.24854738	0.47843	0.27411863	0.53338	0.24854738	0.47843	0.27411863	0.53337	-5.411	0.41025	T	.	.	0.095	0.21913	B	.;.	.;.	3.429051	0.47650	22.5	0.95714000771508512	0.27628	0.95890	0.66595	D	AEFDGBCI	0.740671	0.68484	D	0.0168679760321758	0.42623	2.571615	0.24080753426113	0.52128	3.389789	0.99999992859262	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	6.112000	0.71231	11.930000	0.99908	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0703:0.0:0.9297:0.0	15.009	0.71191	800	0.44535	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1532.98	36	chr1	108699434	.	G	A	1532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.903;DP=823;ExcessHet=0.0000;FS=1.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.03;ReadPosRankSum=0.101;SOR=0.908	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1547,0,1301	20	0	1	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,47,0:47:99:2094,141,0,2095,141,2095	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,47,0:47:99:2094,141,0,2095,141,2095	1	11	8	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.375	B	0.25	B	0.024	N	0.989	D	-0.01	N	4.38	T	-0.907	T	0.002	T	0.107	1.805	12.00	1.09	0.047	0.976	9.065	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1579.24	62	chr1	109508616	.	G	C	1579.24	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.065e+00;DP=1797;ExcessHet=2.5830;FS=184.263;InbreedingCoeff=-0.2692;MLEAC=8;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.17;SOR=8.429	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,36:132:99:.:.:599,0,2058	11	0	7	3
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.046	B	0.204	B	0.024	N	0.837	N	0.38	N	4.32	T	-0.901	T	0.003	T	0.081	1.806	12.00	2.58	0.900	-0.546	6.884	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	194.98	36	chr1	109508618	.	T	C	194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.287e+00;DP=1064;ExcessHet=0.0000;FS=54.520;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.41;ReadPosRankSum=1.72;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,20:138:99:0|1:109508618_T_C:209,0,4549:109508618	20	0	1	0
chr1	109669311	109669311	A	G	exonic	GSTM2	.	nonsynonymous SNV	GSTM2:NM_000848:exon4:c.A199G:p.T67A	.	.	420	1092	9	1	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.001	B	0.103	N	1.000	N	0.945	L	1.01	T	-1.052	T	0.019	T	0.283	1.887	12.27	-6.31	-1.836	-1.771	3.555	0.050	0.00587632882153	0.0021	0.000599042	0.0015	0.0018	0.0013	0.0001	0	0.0022	0.0011	0.0004	0.0001035	16	154602	rs2227960	0.0013	0.0013	0.0013	0.0013	0.0050	0.0013	0.0012	0.0036	0.0031	0.0015	0.0013	0.0089	5.038e-05	0.0004	0.0050	0.0013	0.0017	0.0005	0.0014	0.0014	0.0015	0.0013	0.0016	0.0012	0.0012	0.0014	0.0013	0.0008	0	0.0013	0.0092	0.0002	0.0005	0.0102	0.0016	0.0024	0	0.192	0.23360	T	0.123	0.37037	T	0.0	0.02946	B	0.0	0.01387	B	0.102916	0.19771	N	0.435255	0.999995	0.58761	D	0.71	0.18616	N	1.01	0.41058	T	-0.35	0.16598	N	0.069	0.13055	-1.0515	0.13981	T	0.019	0.07800	T	10	0.005926341	0.00133	T	0.005876	0.15281	T	0.050	0.13987	.	.	0.208000267992	0.20380	0.3583774972703744	0.35751	0.578020300285	0.53709	.	.	.	0.00557	0.24118	T	-0.554663	0.00273	T	-0.588526	0.13793	T	0.00154941195658411	0.00016	T	0.175482	0.02724	T	0.055423252	0.10768	0.038369905	0.03691	0.055423252	0.10768	0.038369905	0.03690	-3.346	0.14338	T	.	.	0.081	0.08417	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.875645	0.00967	0.038	0.87398523941642425	0.17199	0.00658	0.02853	N	AEFDBIJ	0.029066	0.02676	N	-1.31476563359579	0.03505	0.1566991	-1.38000522837643	0.03466	0.1617144	0.999591358502492	0.40745	0.743674	0.98306	0	0.662677	0.63036	0	0.630245	0.45026	0	0.579976	0.35079	0	.	.	3.16	-6.31	0.01826	-2.087000	0.01447	-15.353000	0.00361	-1.079000	0.01572	0.000000	0.06391	0.000000	0.08366	0.860000	0.40782	0.433:0.0:0.2743:0.2927	3.555	0.07416	830	0.39242	.;Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal;Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal;.;Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal;Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal;Glutathione S-transferase, N-terminal|Glutathione S-transferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4201.98	42	chr1	109669311	.	A	G	4201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.688;DP=1471;ExcessHet=0.0000;FS=2.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.04;MQRankSum=-1.547e+00;QD=14.01;ReadPosRankSum=1.19;SOR=0.557	GT:AD:DP:GQ:PL	0/1:136,164:300:99:4216,0,3276	20	0	1	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.727	P	0.3	B	0.001	D	0.994	D	1.305	L	-4.19	D	0.589	D	0.723	D	0.404	2.090	12.95	4.88	2.425	3.659	11.857	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2812	1718.31	106	chr1	110222977	.	C	G	1718.31	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.042e+00;DP=2418;ExcessHet=4.7172;FS=80.588;InbreedingCoeff=-0.3827;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.44;ReadPosRankSum=1.63;SOR=11.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,21:122:99:0|1:110222977_C_G:254,0,3443:110222977	7	0	9	5
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.695	M	-4.48	D	1.099	D	0.949	D	0.846	3.899	19.82	4.88	2.425	7.818	18.385	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1638.75	109	chr1	110222980	.	C	G	1638.75	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.817e+00;DP=2206;ExcessHet=3.5521;FS=69.990;InbreedingCoeff=-0.2544;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=1.87;SOR=10.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,20:120:99:0|1:110222977_C_G:250,0,3422:110222977	12	0	8	1
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:81,51:140:99:521,0,925	0	0	21	0
chr1	115992218	115992218	G	C	exonic	SLC22A15	.	nonsynonymous SNV	SLC22A15:NM_018420:exon2:c.G275C:p.S92T,	.	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.015	B	0.049	B	0.013	N	0.999	N	0.2	N	0.34	T	-1.014	T	0.108	T	0.198	2.279	13.58	4.01	1.068	2.104	9.859	0.067	0.017430854785	0.0054	0.00139776	0.0052	0.0017	0.0024	0	0.0013	0.0064	0.0033	0.0072	0.004379	677	154602	rs185420236	0.0062	0.0062	0.0063	0.0061	0.0072	0.0061	0.0061	0.0070	0.0070	0.0007	0.0015	0.0016	5.124e-05	0.0012	0.0061	0.0072	0.0039	0.0070	0.0039	0.0039	0.0045	0.0033	0.0065	0.0036	0.0035	0.0060	0.0058	0.0015	0.0066	0.0024	0.0023	0	0.0006	0.0068	0.0065	0.0028	0.0056	0.127	0.32610	T	0.535	0.11004	T	0.015	0.17086	B	0.049	0.25116	B	0.013020	0.28981	N	0.422522	0.999069	0.21661	N	0.35	0.11930	N	-1.08	0.77078	T	-1.25	0.32185	N	0.24	0.27077	-1.0136	0.25784	T	0.108	0.39172	T	10	0.007766038	0.00176	T	0.017431	0.39125	T	0.067	0.19503	.	.	0.291694819147	0.28783	0.28550130682985747	0.28463	0.208021027618	0.23268	0.287762522697	0.08596	T	0.010145	0.09188	T	-0.422596	0.01647	T	-0.373409	0.36491	T	0.0104857532945679	0.00145	T	0.829717	0.49530	T	0.0754271	0.16994	0.085678324	0.19800	0.0754271	0.16993	0.085678324	0.19799	-4.615	0.34240	T	.	.	0.093	0.13830	B	.;.	.;.	2.294512	0.29350	18.10	0.97402695927089666	0.33780	0.94069	0.60019	D	AEFBI	0.307596	0.41442	N	-0.356949138755218	0.27017	1.47906	-0.15556050550482	0.33195	1.896336	0.895792491277381	0.25962	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.19	4.01	0.45821	2.427000	0.44397	4.578000	0.43908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1193:0.0:0.8807:0.0	9.859	0.40272	892	0.26670	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	0.07143	2263.68	33	chr1	115992218	.	G	C	2263.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.806e+00;DP=892;ExcessHet=0.3300;FS=0.616;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=1.00;SOR=0.749	GT:AD:DP:GQ:PL	0/1:36,24:60:99:665,0,1086	18	0	3	0
chr1	144436988	144436988	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon5:c.G400T:p.D134Y	.	.	421	1019	82	0	0	82	0.0386792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.214	B	0.159	B	.	.	0.993	N	.	.	4.05	T	-0.982	T	0.021	T	0.529	-1.236	0.056	-0.832	-1.695	0.153	2.650	0.239	0.00173396275964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380003639	6.67e-05	0.0008	3.836e-05	9.469e-05	0.0002	5.505e-05	5.067e-05	5.739e-05	5.275e-05	6.954e-05	2.266e-05	0	7.861e-05	9.577e-05	0.0002	7.186e-05	1.878e-05	4.901e-05	8.14e-05	0.0010	7.933e-05	8.359e-05	0.0004	4.632e-05	3.619e-05	7.758e-05	3.166e-05	0.0001	0	6.769e-05	0	0	0	0	7.498e-05	0	0.0004	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.05	0.03092	T	.	.	.	0.247	0.27910	.	.	.	.	.	.	.	0.16393486	0.30683	T	.	.	.	.	.	.	.	.	.	0.03106088496578435	0.03055	.	.	.	.	.	0.233658	0.60051	T	.	.	.	.	.	.	.	.	.	0.712529	0.32403	T	.	.	.	.	.	.	.	.	-10.07	0.74330	D	.	.	0.173	0.40618	B	.;.;.	.;.;.	0.956282	0.13325	9.829	.	.	.	.	.	.	0.027387	0.02229	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.053000	0.11802	-20.000000	0.00162	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.	.	.	.	.	.	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	0.05263	230.55	33	chr1	144436988	.	C	A	230.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=1577;ExcessHet=0.1072;FS=80.919;InbreedingCoeff=-0.0769;MLEAC=2;MLEAF=0.053;MQ=37.40;MQRankSum=-4.958e+00;QD=0.69;ReadPosRankSum=-1.094e+00;SOR=5.092	GT:AD:DP:GQ:PL	0/1:127,16:143:27:27,0,3403	17	0	2	2
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,26:126:99:0|1:145872713_C_G:123,0,3050:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,26:126:99:0|1:145872713_C_G:123,0,3050:145872713	6	0	14	1
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:289,62:351:99:747,0,7858	1	0	20	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K,	.	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	676.01	33	chr1	149476000	.	C	A	676.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=5.27;DP=1964;ExcessHet=1.7912;FS=25.359;InbreedingCoeff=-0.1663;MLEAC=6;MLEAF=0.143;MQ=33.27;MQRankSum=-4.079e+00;QD=0.61;ReadPosRankSum=-3.831e+00;SOR=4.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,11:127:99:0|1:149475995_C_T:113,0,4816:149475995	15	0	6	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H,	.	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1239.33	33	chr1	149476006	.	G	A	1239.33	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.74;DP=2230;ExcessHet=1.7912;FS=23.772;InbreedingCoeff=-0.1703;MLEAC=6;MLEAF=0.143;MQ=33.76;MQRankSum=-3.934e+00;QD=1.06;ReadPosRankSum=-4.403e+00;SOR=3.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,18:147:99:0|1:149475995_C_T:249,0,5074:149475995	15	0	6	0
chr1	149944086	149944086	G	T	exonic	OTUD7B	.	nonsynonymous SNV	OTUD7B:NM_020205:exon12:c.C2303A:p.P768H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.493	N	1.000	N	0.69	N	1.5	T	-0.952	T	0.013	T	0.085	-0.343	2.377	-1.27	-0.307	1.272	3.991	0.039	0.00668796475497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.36365	T	0.0	0.02946	B	0.0	0.01387	B	0.492767	0.12038	N	0.775970	1	0.08975	N	1.5	0.37844	L	1.5	0.31205	T	.	.	.	0.079	0.05414	-0.9522	0.40590	T	0.013	0.05177	T	9	0.0738807	0.11221	T	0.006688	0.17671	T	.	.	0.424	0.46857	0.227260227426	0.22338	0.14027752710669766	0.13950	.	.	0.272260308266	0.06438	T	0.02019	0.15942	T	-0.287627	0.09875	T	-0.650933	0.08890	T	0.0144502557814121	0.00292	T	0.365963	0.08520	T	0.06450719	0.13693	0.05777035	0.10561	0.06450719	0.13693	0.05777035	0.10561	-4.613	0.32335	T	.	.	0.080	0.07745	B	.	.	1.422825	0.18399	13.71	0.67381891660833093	0.08338	0.12627	0.17383	N	AEFBI	0.125521	0.24207	N	-0.99888411583591	0.08627	0.4052642	-1.0242728683202	0.09252	0.4592645	0.998551054546306	0.37186	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.61	-1.27	0.08863	1.764000	0.38100	1.537000	0.27200	-0.154000	0.11915	0.012000	0.18695	0.816000	0.27083	0.972000	0.54974	0.0804:0.1234:0.3694:0.4268	3.991	0.09027	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	283.11	35	chr1	149944086	.	G	T	283.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.080e+00;DP=823;ExcessHet=0.1072;FS=65.825;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.74;ReadPosRankSum=1.23;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,10:77:99:0|1:149944085_G_T:114,0,2689:149944085	19	0	2	0
chr1	150157391	150157391	G	A	exonic	PLEKHO1	.	nonsynonymous SNV	PLEKHO1:NM_016274:exon5:c.G430A:p.V144I,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.221	B	0.023	B	.	.	1.000	D	1.79	L	2.29	T	-1.117	T	0.032	T	0.213	3.352	17.29	4.69	2.595	3.592	17.138	0.037	0.00808159651396	0.0008	0.000798722	0.0007	0.0003	8.669e-05	0	0	0.0007	0	0.0018	0.000718	111	154602	rs138447368	0.0011	0.0011	0.0011	0.0010	0.0018	0.0010	0.0010	0.0016	0.0015	0.0002	0.0002	0	0	5.616e-05	0.0002	0.0012	0.0012	0.0018	0.0006	0.0006	0.0006	0.0005	0.0023	0.0005	0.0004	0.0013	0.0010	9.623e-05	0	0.0005	0	0	9.411e-05	0	0.0009	0.0005	0.0023	0.092	0.31682	T	0.19	0.28482	T	0.221	0.30336	B	0.023	0.19966	B	.	.	.	.	0.998905	0.81001	D	1.53	0.38800	L	2.29	0.17113	T	-0.71	0.20145	N	0.383	0.42443	-1.1174	0.02503	T	0.032	0.13548	T	9	0.014858186	0.00312	T	0.008082	0.21418	T	0.037	0.09474	.	.	0.182106788282	0.17826	0.12915185327965312	0.12840	0.604580935756	0.55391	0.515151619911	0.40944	T	0.119732	0.44148	T	-0.532423	0.00372	T	-0.543423	0.17962	T	0.0283545557211966	0.01740	T	0.886311	0.61284	D	0.16779375	0.37198	0.1340696	0.32135	0.16779375	0.37198	0.1340696	0.32135	-5.899	0.45427	T	.	.	0.127	0.27009	B	.	.	4.085505	0.60807	24.3	0.99834687627831231	0.91628	0.81859	0.41180	D	AEFDBCIJ	0.232520	0.35557	N	0.0816787904040062	0.45608	2.81457	0.207003258968294	0.50237	3.217754	0.999999994848501	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	4.69	4.69	0.58546	3.601000	0.53812	11.723000	0.94851	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.138	0.86624	330	0.86467	.	.	.	.	.	.	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	0.02381	782.98	33	chr1	150157391	.	G	A	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.76;DP=768;ExcessHet=0.0000;FS=12.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-1.654e+00;SOR=2.330	GT:AD:DP:GQ:PL	0/1:42,25:67:99:797,0,1044	20	0	1	0
chr1	150509669	150509669	G	A	exonic	ECM1	.	nonsynonymous SNV	ECM1:NM_001202858:exon3:c.G130A:p.A44T	Urbach-Wiethe disease, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	696073	not_provided|ECM1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	0.514	D	1.935	M	-1.4	T	0.057	D	0.531	D	0.288	4.214	21.9	4.32	2.233	3.019	12.141	0.558	.	0.0078	0.00199681	0.0075	0.0015	0.0034	0.0015	0.0104	0.0113	0.0055	0.0007	0.0076713	1186	154602	rs145971597	0.0090	0.0090	0.0091	0.0089	0.0106	0.0088	0.0088	0.0104	0.0104	0.0015	0.0039	0.0038	0.0007	0.0090	0.0012	0.0106	0.0075	0.0006	0.0078	0.0078	0.0082	0.0075	0.0129	0.0075	0.0073	0.0122	0.0119	0.0017	0.0493	0.0041	0.0026	0.0016	0.0107	0.0034	0.0129	0.0047	0	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.984	0.81110	D	0.000452	0.44317	D	0.000000	0.51447	0.31846	D	2.28	0.64929	M	-1.4	0.80474	T	-2.46	0.53736	N	0.833	0.82862	0.057	0.83373	D	0.531	0.82593	D	10	0.013135403	0.00280	T	.	.	.	0.558	0.81831	.	.	0.964982720333	0.96460	0.4886453964960374	0.48784	0.508991846458	0.49041	0.44282656908	0.30964	T	0.472687	0.80486	T	-0.301881	0.08483	T	-0.192127	0.55391	T	0.0297393838860595	0.01950	T	0.877412	0.59112	D	0.40281728	0.60927	0.41210094	0.65422	0.3853729	0.59703	0.41210094	0.65423	-3.851	0.22768	T	.	.	0.431	0.61244	A	.;.;.	.;.;.	4.999909	0.82956	27.9	0.99912066550671652	0.98095	0.75519	0.36979	D	AEFDBI	0.639159	0.61731	D	0.54675931145864	0.69884	5.420989	0.48768739134762	0.67173	5.048693	0.999999873841575	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.32	4.32	0.50899	4.287000	0.58794	9.474000	0.80875	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:1.0:0.0	12.141	0.53302	167	0.93508	.;.;.	MRPS21|MRPS21|CTSK|ARNT	Heart_Atrial_Appendage|Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood|Whole_Blood	ARNT	Artery_Tibial	rs145971597	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	0.02381	1184.98	34	chr1	150509669	.	G	A	1184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=828;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.010;SOR=0.580	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1199,0,1300	20	0	1	0
chr1	150648331	150648331	T	C	exonic	GOLPH3L	.	nonsynonymous SNV	GOLPH3L:NM_018178:exon5:c.A848G:p.N283S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.059	B	0.018	B	0.000	D	1.000	D	0.6	N	.	.	-1.055	T	0.057	T	0.062	2.120	13.04	5.44	2.285	2.146	9.583	0.059	0.00133956534921	7.7e-05	.	8.733e-06	9.962e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs151307247	6.941e-07	6.841e-07	0	1.401e-06	9.098e-07	0	0	.	.	0	0	0	0	0	0	9.098e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.322	0.13479	T	0.325	0.18846	T	0.033	0.20350	B	0.007	0.12992	B	0.000001	0.62929	D	0.053135	0.999549	0.47497	D	0.935	0.23595	L	.	.	.	0.01	0.06868	N	0.101	0.08366	-1.0546	0.13145	T	0.057	0.24130	T	9	0.12311739	0.23365	T	0.00134	0.01910	T	0.059	0.16972	.	.	0.439870908748	0.43606	0.8128185085347226	0.81237	0.233751173166	0.25910	0.503239274025	0.39279	T	0.007388	0.06799	T	-0.362406	0.03996	T	-0.576201	0.14887	T	0.082293515865875	0.10278	T	0.822018	0.48145	T	0.04103833	0.05971	0.07356068	0.15998	0.04103833	0.05971	0.07356068	0.15998	-2.486	0.05687	T	.	.	0.064	0.01600	B	.	.	2.305120	0.29499	18.14	0.98586294083805515	0.43310	0.96024	0.67189	D	AEFGBI	0.361547	0.45112	N	-0.156900096935277	0.34942	2.000839	0.0543681898127127	0.42283	2.554849	0.851272434278252	0.25049	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	1.821000	0.38680	7.846000	0.70742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0809:0.0:0.9191	9.583	0.38666	78	0.96748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1291.98	34	chr1	150648331	.	T	C	1291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.190e-01;DP=780;ExcessHet=0.0000;FS=6.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=1.32;SOR=0.207	GT:AD:DP:GQ:PL	0/1:36,48:84:99:1306,0,966	20	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S,	Ichthyosis vulgaris, Autosomal dominant	.	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.39	N	4.44	T	-0.932	T	0.000	T	0.219	-0.051	3.752	-2.54	-0.039	-2.014	5.099	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	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	0.07143	2989.68	73	chr1	152306286	.	A	C	2989.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.179e+00;DP=10972;ExcessHet=0.3300;FS=0.960;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.22;MQRankSum=-8.047e+00;QD=0.95;ReadPosRankSum=6.54;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1258,100:1358:99:0|1:152306286_A_C:352,0,51856:152306286	18	0	3	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28,	Ichthyosis vulgaris, Autosomal dominant	.	0	1397	124	1	0	126	0.0431507	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2642.64	73	chr1	152306292	.	G	GCC	2642.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.361e+00;DP=11022;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.58;MQRankSum=-8.171e+00;QD=0.82;ReadPosRankSum=6.68;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1306,99:1405:99:0|1:152306286_A_C:185,0,54123:152306286	18	0	3	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5,	Ichthyosis vulgaris, Autosomal dominant	.	1	1401	119	1	0	121	0.0413958	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2402.64	73	chr1	152306294	.	ATG	A	2402.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.519e+00;DP=11062;ExcessHet=0.3300;FS=1.021;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.84;MQRankSum=-8.412e+00;QD=0.73;ReadPosRankSum=5.83;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1326,97:1423:82:0|1:152306286_A_C:82,0,55211:152306286	18	0	3	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S,	Ichthyosis vulgaris, Autosomal dominant	.	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.477	P	0.241	B	.	.	1.000	N	0.85	L	4.7	T	-0.932	T	0.002	T	0.218	0.206	5.112	0.398	0.092	.	3.431	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.07143	2304.68	73	chr1	152306299	.	T	A	2304.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.859e+00;DP=11064;ExcessHet=0.3300;FS=1.018;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=54.16;MQRankSum=-8.642e+00;QD=0.70;ReadPosRankSum=5.14;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1326,97:1423:82:0|1:152306286_A_C:82,0,55387:152306286	18	0	3	0
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E,	Ichthyosis vulgaris, Autosomal dominant	.	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.1	N	4.69	T	-0.977	T	0.001	T	0.055	0.459	6.492	1.99	-0.043	0.245	5.49	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	79746.79	67	chr1	152308312	.	T	G,C	79746.79	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-5.400e-01;DP=8463;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=58.40;MQRankSum=-1.301e+01;QD=10.85;ReadPosRankSum=2.95;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:554,229,0:783:99:.:.:4907,0,18814,6572,19500,26071	10	0	10	0
chr1	152761247	152761247	-	C	exonic	KPRP	.	frameshift insertion	KPRP:NM_001025231:exon2:c.1660dupC:p.R554Pfs*31,	.	.	414	1089	19	0	0	19	0.00864816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00279553	0.0020	0.0006	0.0014	0	0.0005	0.0018	0.0022	0.0060	0.000461	12	26028	rs545233716	0.0024	0.0024	0.0022	0.0026	0.0065	0.0023	0.0023	0.0060	0.0058	0.0006	0.0016	0.0003	2.519e-05	0.0002	0.0062	0.0023	0.0029	0.0065	0.0015	0.0015	0.0016	0.0014	0.0064	0.0013	0.0013	0.0046	0.0040	0.0005	0	0.0017	0.0003	0.0002	0.0003	0	0.0020	0.0038	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3294.07	40	chr1	152761247	.	G	GC	3294.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=988;ExcessHet=0.1072;FS=1.744;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.84;ReadPosRankSum=1.14;SOR=0.557	GT:AD:DP:GQ:PL	0/1:42,65:107:99:2059,0,1248	19	0	2	0
chr1	152787487	152787487	G	A	exonic	LCE1E	.	nonsynonymous SNV	LCE1E:NM_178353:exon2:c.G188A:p.S63N,	.	.	413	1093	16	0	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.968	D	0.969	D	.	.	1.000	N	2.23	M	3.81	T	-1.033	T	0.018	T	0.138	0.871	8.532	1.06	0.132	1.313	4.471	0.099	.	0.0012	0.00279553	0.0020	0.0010	0.0018	0.0002	0.0005	0.0016	0.0022	0.0060	0.0017335	268	154602	rs200257409	0.0020	0.0024	0.0018	0.0021	0.0061	0.0019	0.0019	0.0056	0.0055	0.0007	0.0020	0.0003	0.0001	0.0002	0.0054	0.0018	0.0025	0.0061	0.0016	0.0016	0.0017	0.0015	0.0065	0.0014	0.0014	0.0047	0.0041	0.0009	0	0.0019	0.0003	0.0002	0.0002	0	0.0020	0.0038	0.0065	.	.	.	0.107	0.37730	T	0.968	0.56581	D	0.969	0.72001	D	.	.	.	.	0.999971	0.18612	N	1.675	0.43121	L	3.81	0.03754	T	-1.18	0.30140	N	0.288	0.37301	-1.0328	0.19554	T	0.018	0.07282	T	9	0.0080218315	0.00182	T	.	.	.	0.099	0.28413	.	.	0.264081493735	0.26024	0.015214046080580437	0.01477	0.00466472633039	0.00412	.	.	.	0.005115	0.04549	T	-0.597095	0.00152	T	-0.631935	0.10268	T	0.0298606214996596	0.01968	T	0.224478	0.05429	T	0.46671456	0.65088	0.2339394	0.48597	0.46671456	0.65089	0.2339394	0.48596	-7.42	0.57045	T	.	.	0.167	0.39237	B	.;.;.	.;.;.	2.070882	0.26331	17.08	0.68721087988848728	0.08746	0.67275	0.33374	D	AEFBI	0.063968	0.12395	N	0.10584978004884	0.46736	2.909403	-0.0212012914995712	0.38759	2.288167	6.49158064363091E-4	0.07527	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.07	1.06	0.19341	1.326000	0.33341	.	.	0.563000	0.28513	0.971000	0.34370	0.824000	0.27153	0.982000	0.59238	0.1358:0.2301:0.6341:0.0	4.471	0.11133	799	0.44747	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1481.11	34	chr1	152787487	.	G	A	1481.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.480;DP=1163;ExcessHet=0.1072;FS=1.418;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.84;MQRankSum=-3.159e+00;QD=10.43;ReadPosRankSum=1.09;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,28:71:99:0|1:152787474_A_G:760,0,834:152787474	19	0	2	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	0/1:12,12,0,0:24:99:450,0,461,489,497,986,489,497,986,986	3	4	8	2
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:83,31:114:4:4,0,1369	6	0	15	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/3:0,5,33,15,0,0,0:53:99:2518,1746,1618,560,352,381,1241,926,0,1085,1960,1636,538,1139,1849,1960,1636,538,1139,1849,1849,1960,1636,538,1139,1849,1849,1849	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/3:0,5,33,15,0,0,0:53:99:2518,1746,1618,560,352,381,1241,926,0,1085,1960,1636,538,1139,1849,1960,1636,538,1139,1849,1849,1960,1636,538,1139,1849,1849,1849	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/3:0,5,33,15,0,0,0:53:99:2518,1746,1618,560,352,381,1241,926,0,1085,1960,1636,538,1139,1849,1960,1636,538,1139,1849,1849,1960,1636,538,1139,1849,1849,1849	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/3:0,5,33,15,0,0,0:53:99:2518,1746,1618,560,352,381,1241,926,0,1085,1960,1636,538,1139,1849,1960,1636,538,1139,1849,1849,1960,1636,538,1139,1849,1849,1849	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/3:0,5,33,15,0,0,0:53:99:2518,1746,1618,560,352,381,1241,926,0,1085,1960,1636,538,1139,1849,1960,1636,538,1139,1849,1849,1960,1636,538,1139,1849,1849,1849	0	1	0	0
chr1	155186148	155186148	G	C	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001044391:exon5:c.C440G:p.S147C	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2386513	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	2.425	M	1.48	T	-0.485	T	0.277	T	0.664	3.516	17.96	4.57	2.532	4.436	13.040	0.228	0.0730881798815	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs780727289	1.271e-05	1.231e-05	1.536e-05	9.997e-06	0.0002	7.94e-06	6.55e-06	5.88e-06	4.65e-06	0	2.535e-05	0	0	0	0.0002	1.103e-05	3.414e-05	2.469e-05	6.568e-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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	.	.	.	.	0.876392	0.81001	D	.	.	.	0.97	0.57419	T	-3.96	0.73684	D	0.439	0.53093	-0.4849	0.69191	T	0.277	0.64926	T	9	0.35168758	0.52013	T	0.073088	0.71700	D	0.228	0.52768	0.211	0.12923	0.7807895422	0.77876	0.4793372651105636	0.47853	.	.	0.503526747227	0.39319	T	0.148327	0.50960	T	0.106017	0.64935	D	-0.0218442	0.68907	D	0.973334670066833	0.70054	D	0.881912	0.60169	D	.	.	.	.	.	.	.	.	-13.405	0.94421	D	.	.	0.573	0.69509	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.086688	0.84923	28.4	0.98306374834759047	0.40097	0.78837	0.38958	D	ALL	0.841534	0.75872	D	0.7222473405488	0.81089	7.441647	0.666377095280683	0.79837	7.167169	0.99999999300489	0.74766	0.386957	0.05904	2	0.624146	0.53433	0	0.137785	0.03908	3	0.604944	0.38103	0	.	.	4.57	4.57	0.55860	4.825000	0.62398	9.676000	0.81232	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.040	0.58303	71	0.96981	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	749.98	34	chr1	155186148	.	G	C	749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.038e+00;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=-6.400e-02;SOR=0.764	GT:AD:DP:GQ:PL	0/1:45,34:79:99:764,0,1158	20	0	1	0
chr1	155921500	155921500	G	C	exonic	KHDC4	.	nonsynonymous SNV	KHDC4:NM_014949:exon10:c.C1141G:p.P381A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.738	P	0.3	B	0.000	D	1.000	N	0.345	N	.	.	-1.062	T	0.022	T	0.567	2.756	15.18	5.62	2.644	7.051	12.588	0.114	0.0104981790785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40319	T	0.064	0.48080	T	0.489	0.42905	P	0.3	0.41053	B	0.000012	0.62929	D	0.115263	0.999905	0.50806	D	.	.	.	.	.	.	-1.0	0.28497	N	0.564	0.60833	-1.0620	0.11263	T	0.022	0.09513	T	9	0.29973656	0.47524	T	0.010498	0.27109	T	0.114	0.32008	0.144	0.04746	0.138757226776	0.13463	0.3007201865435345	0.29985	0.471083547616	0.46372	0.765291333199	0.76719	T	0.054912	0.29859	T	0.0523718	0.58649	T	-0.162548	0.58122	T	0.763648390769958	0.44063	D	0.889911	0.62289	D	0.09259084	0.21726	0.08401885	0.19299	0.09259084	0.21725	0.08401885	0.19298	-5.735	0.44092	T	.	.	0.134	0.29144	B	.;.	.;.	4.194628	0.63243	24.6	0.97765042363915189	0.35832	0.95946	0.66841	D	AEFDGBCI	0.709060	0.66327	D	-0.1879906126342	0.33632	1.910371	0.0747278044820216	0.43281	2.633213	0.999999852638163	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.62	5.62	0.85714	6.874000	0.75347	11.772000	0.95887	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0765:0.0:0.9235:0.0	12.588	0.55779	73	0.96914	.;.	.	.	.	.	.	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	0.02381	1197.98	33	chr1	155921500	.	G	C	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.300e-01;DP=786;ExcessHet=0.0000;FS=0.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=0.455;SOR=0.577	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1212,0,949	20	0	1	0
chr1	156815838	156815838	G	C	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001007792:exon1:c.G9C:p.E3D,	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0003	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.004	B	.	.	1.000	N	0	N	-0.97	T	-0.994	T	0.083	T	0.07	2.192	13.29	2.36	0.744	0.242	6.516	0.177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	0.0001	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	-0.97	0.75670	T	-0.05	0.07736	N	0.05	0.02179	-0.9939	0.31591	T	0.083	0.32499	T	9	0.082740545	0.13688	T	0.007492	0.19872	T	0.177	0.44549	0.115	0.02372	0.51372946856	0.51013	.	.	.	.	.	.	.	.	.	.	-0.1645	0.26071	T	-0.474069	0.25079	T	0.22831466794014	0.21871	T	0.333767	0.07077	T	.	.	.	.	.	.	.	.	-3.709	0.19451	T	.	.	.	.	.	.	.	1.156672	0.15452	11.86	0.96680647164573041	0.30697	0.17383	0.19813	N	AEFGBCI	0.071145	0.14151	N	-0.913840955761567	0.10517	0.5029817	-0.907916361291049	0.11907	0.6094711	0.999995659671766	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.616487	0.41570	0	0.635259	0.50027	0	.	.	4.23	2.36	0.28258	0.251000	0.18025	0.143000	0.15197	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.2157:0.0:0.7843:0.0	6.516	0.21443	721	0.55360	.	.	.	.	.	.	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	0.09524	470.92	92	chr1	156815838	.	G	C	470.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.519e+00;DP=2320;ExcessHet=0.6776;FS=154.586;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.85;ReadPosRankSum=1.30;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,24:124:39:0|1:156815838_G_C:39,0,3444:156815838	17	0	4	0
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	N	.	.	.	.	.	.	.	.	.	0.675	7.612	1.31	0.316	-0.180	4.184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1192.72	73	chr1	156815839	.	G	C	1192.72	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.688e+00;DP=2417;ExcessHet=3.5521;FS=187.374;InbreedingCoeff=-0.2541;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=1.23;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,24:124:39:0|1:156815838_G_C:39,0,3444:156815838	12	0	8	1
chr1	157589259	157589259	T	A	exonic	FCRL4	.	nonsynonymous SNV	FCRL4:NM_031282:exon3:c.A252T:p.R84S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.242	B	0.16	B	0.045	N	1.000	N	1.825	L	2.63	T	-0.965	T	0.011	T	0.316	3.279	17.01	-2.26	-0.299	-2.365	4.215	0.024	0.00454654532088	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866959775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.089	0.40426	T	0.242	0.30930	B	0.16	0.34752	B	0.045273	0.23554	N	0.214456	0.999999	0.08975	N	1.425	0.35738	L	2.63	0.12884	T	-3.91	0.73042	D	0.092	0.07125	-0.9652	0.38171	T	0.011	0.03996	T	10	0.14250264	0.27066	T	0.004547	0.11220	T	0.024	0.04979	0.468	0.54052	0.130388298395	0.12655	0.3630950818595733	0.36223	0.171862290109	0.19354	0.204181134701	0.00588	T	0.021935	0.17000	T	-0.267161	0.12076	T	-0.621535	0.11066	T	0.828442394733429	0.48410	D	0.542346	0.18433	T	0.2584523	0.48894	0.17309247	0.39612	0.2584523	0.48894	0.17309247	0.39611	-3.421	0.15340	T	.	.	0.179	0.38994	B	.	.	0.046664	0.04612	1.281	0.98399698967259819	0.41052	0.02141	0.06307	N	AEFBI	0.070947	0.14104	N	-0.927487620670682	0.10203	0.4864387	-1.05526592550736	0.08597	0.4234847	2.29259280293085E-5	0.03498	0.549168	0.22868	0	0.627178	0.54094	0	0.563428	0.18855	0	0.564101	0.26826	0	.	.	4.2	-2.26	0.06478	-2.261000	0.01258	-2.672000	0.03483	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1733:0.4091:0.0:0.4176	4.215	0.09986	835	0.38313	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2522.98	34	chr1	157589259	.	T	A	2522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.450e-01;DP=887;ExcessHet=0.0000;FS=0.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=2.44;SOR=0.611	GT:AD:DP:GQ:PL	0/1:76,103:179:99:2537,0,1840	20	0	1	0
chr1	159714433	159714433	C	T	exonic	CRP	.	nonsynonymous SNV	CRP:NM_000567:exon1:c.G53A:p.G18D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.028	B	0.018	B	0.292	N	1.000	N	1.1	L	2.95	T	-0.930	T	0.008	T	0.103	2.640	14.79	-0.739	-0.047	-0.827	2.086	0.060	0.0052820787297	.	0.000199681	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs540472216	3.284e-05	3.283e-05	1.77e-05	4.814e-05	0.0006	2.544e-05	2.249e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0006	6.59e-06	6.569e-06	0	1.349e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.045	0.44029	D	0.204	0.27235	T	0.009	0.19712	B	0.006	0.18489	B	0.292478	0.03903	N	1.571170	1	0.08975	N	1.555	0.39373	L	2.95	0.09635	T	-1.46	0.45222	N	0.173	0.23125	-0.9305	0.44066	T	0.008	0.02679	T	10	0.026308626	0.00800	T	0.005282	0.13494	T	0.060	0.17295	0.394	0.41935	0.236890367714	0.23314	0.39037862715621	0.38952	0.0323780834979	0.03379	0.325881302357	0.14310	T	0.221421	0.58499	T	-0.591064	0.00165	T	-0.729315	0.04358	T	0.0571334863539784	0.06710	T	0.542746	0.26451	T	0.13265269	0.30881	0.122078165	0.29450	0.13265269	0.30880	0.122078165	0.29449	-6.657	0.51486	T	.	.	0.166	0.36614	B	.;.;.;.	.;.;.;.	0.692774	0.10613	7.317	0.96191327766684787	0.28991	0.02786	0.07497	N	AEFI	0.216441	0.34168	N	-0.867055742965342	0.11632	0.5624385	-0.908280480432592	0.11898	0.6089815	1.25269399375924E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.05	-0.739	0.10560	-0.670000	0.05357	-3.961000	0.02426	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.797000	0.37605	0.29:0.437:0.1637:0.1094	2.086	0.03425	915	0.20917	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	830.98	43	chr1	159714433	.	C	T	830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-02;DP=842;ExcessHet=0.0000;FS=2.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.440;SOR=1.122	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,28:59:99:0|1:159714396_T_A:845,0,939:159714396	20	0	1	0
chr1	160173608	160173608	A	G	exonic	ATP1A4	.	nonsynonymous SNV	ATP1A4:NM_144699:exon13:c.A1882G:p.I628V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.45	B	0.451	P	0.000	D	1.000	D	0.485	N	-3.82	D	0.522	D	0.685	D	0.571	4.027	20.7	4.34	1.951	9.107	11.806	0.619	0.0528268473045	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437974132	3.42e-05	3.42e-05	3.267e-05	3.575e-05	0.0005	2.631e-05	2.375e-05	0.0001	7.541e-05	0	6.708e-05	0	0	0	0.0005	3.777e-05	1.656e-05	1.159e-05	7.227e-05	7.223e-05	3.853e-05	0.0001	0.0006	3.971e-05	3.127e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.315	0.19421	T	0.45	0.36066	B	0.451	0.46123	P	0.000000	0.84330	D	0.000000	0.999938	0.51612	D	0.37	0.12060	N	-3.82	0.95761	D	-0.75	0.21003	N	0.577	0.59901	0.522	0.90854	D	0.685	0.89114	D	10	0.43144524	0.57517	T	0.052827	0.65225	D	0.619	0.85196	0.524	0.62818	0.870136083886	0.86887	0.6093199799835259	0.60863	0.161212236741	0.18198	0.598819732666	0.52738	T	0.057417	0.30559	T	0.078953	0.61918	D	0.0726055	0.75084	D	0.417566949414181	0.29601	T	0.966803	0.87909	D	0.41407615	0.61695	0.35547343	0.61074	0.41407615	0.61696	0.35547343	0.61073	-9.112	0.68414	D	.	.	0.085	0.10400	B	.	.	4.009863	0.59151	24.1	0.99894187142933988	0.96742	0.98395	0.82339	D	AEFBI	0.925452	0.90502	D	0.261522232730489	0.54212	3.587318	0.367281741989506	0.59556	4.134405	0.999999997981084	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.34	4.34	0.51267	7.463000	0.79901	11.124000	0.86623	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.806	0.51425	397	0.82902	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	686.98	35	chr1	160173608	.	A	G	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.851;DP=797;ExcessHet=0.0000;FS=1.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.63;ReadPosRankSum=1.99;SOR=0.967	GT:AD:DP:GQ:PL	0/1:56,34:90:99:701,0,1300	20	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:167,42:215:33:33,0,3710	5	0	16	0
chr1	161236550	161236550	C	A	exonic	NR1I3	.	nonsynonymous SNV	NR1I3:NM_001077469:exon2:c.G16T:p.D6Y	.	.	.	.	.	.	.	.	.	.	.	2273832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.942	D	0.561	N	0.810	D	1.335	L	-2.42	D	0.055	D	0.792	D	0.517	4.727	26.3	5.44	2.837	4.419	10.064	0.388	0.0442088099063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.78490	D	0.011	0.83351	D	0.922	0.73220	P	0.761	0.67772	P	0.561494	0.05427	N	1.235040	0.958824	0.81001	D	2.565	0.75005	M	-2.94	0.93170	D	-2.98	0.73151	D	0.31	0.42737	0.055	0.83344	D	0.792	0.92959	D	9	0.3500631	0.51886	T	0.044209	0.61373	D	0.388	0.70440	0.363	0.36874	0.987563693951	0.98742	0.6184152800313694	0.61774	0.775301353887	0.64992	0.437749475241	0.30270	T	0.062065	0.70783	T	0.164879	0.70651	D	-0.000939313	0.70275	D	0.964979350566864	0.67123	D	0.888311	0.62511	D	0.14651692	0.33536	0.21785256	0.46466	0.14651692	0.33536	0.21785256	0.46465	-8.111	0.63109	D	.	.	0.111	0.31431	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.088298	0.60867	24.3	0.99370149571303712	0.61411	0.84515	0.43597	D	AEFDHCI	0.830156	0.74893	D	0.482430171997443	0.66066	4.902088	0.45869499666338	0.65277	4.803554	0.999999949106699	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	4.741000	0.61790	0.958000	0.22971	0.581000	0.30040	0.993000	0.37899	0.002000	0.18203	0.561000	0.30436	0.0:0.9115:0.0:0.0885	10.064	0.41463	708	0.56926	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1972.98	35	chr1	161236550	.	C	A	1972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.507e+00;DP=907;ExcessHet=0.0000;FS=4.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=1.80;SOR=0.501	GT:AD:DP:GQ:PL	0/1:110,87:197:99:1987,0,2748	20	0	1	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.36	B	0.433	B	0.000	D	1.000	D	1.135	L	.	.	-0.981	T	0.105	T	0.858	4.070	20.9	4.33	0.955	5.327	11.107	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	218.51	112	chr1	165743215	.	G	C	218.51	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-3.149e+00;DP=1772;ExcessHet=1.7912;FS=225.654;InbreedingCoeff=-0.2159;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=0.715;SOR=11.634	GT:AD:DP:GQ:PL	0/1:84,30:114:57:57,0,1427	12	0	6	3
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,62,0:68:99:.:.:2176,172,0,2184,186,2198	2	5	6	0
chr1	179990615	179990615	A	G	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon4:c.A229G:p.R77G,	.	.	449	1071	2	0	0	2	0.000932836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	D	0.921	D	0.000	D	0.998	D	0.895	L	0.24	T	-0.836	T	0.172	T	0.829	3.330	17.21	4.3	0.986	3.532	11.376	0.295	0.102077117398	0.0045	0.000798722	0.0046	0.0015	0.0043	0	0.0011	0.0077	0.0043	0.0001	0.0028654	443	154602	rs140306241	0.0051	0.0051	0.0053	0.0049	0.0061	0.0050	0.0049	0.0059	0.0059	0.0007	0.0024	0.0076	0	0.0014	0.0004	0.0061	0.0045	7.422e-05	0.0034	0.0034	0.0037	0.0031	0.0057	0.0032	0.0031	0.0052	0.0050	0.0012	0	0.0020	0.0066	0	0.0015	0	0.0057	0.0052	0	0.002	0.72154	D	0.023	0.92824	D	0.985	0.61118	D	0.921	0.65636	D	0.000111	0.50451	D	0.000000	0.997931	0.44335	D	2.36	0.67893	M	0.24	0.59583	T	-2.59	0.92346	D	0.784	0.78072	-0.8358	0.52924	T	0.172	0.51373	T	9	0.007857263	0.00178	T	0.102077	0.77533	D	0.295	0.61502	.	.	0.59943670487	0.59624	0.15869044678275998	0.15790	0.448914845135	0.44705	0.56677031517	0.48221	T	0.019134	0.15298	T	-0.127953	0.31827	T	0.0454857	0.73286	D	0.0241365490804345	0.01162	T	0.868313	0.63671	D	0.25374287	0.48398	0.2988034	0.55914	0.25374287	0.48398	0.2988034	0.55913	-3.562	0.17310	T	.	.	0.812	0.77831	P	.;.	.;.	3.790772	0.54561	23.5	0.99777527976636515	0.86433	0.93704	0.58953	D	AEFBI	0.395205	0.47216	N	0.344794945917139	0.58463	4.018916	0.360510886381449	0.59142	4.089789	0.0328217239026727	0.14074	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.45	4.3	0.50540	3.541000	0.53373	6.972000	0.57094	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7108:0.2892:0.0:0.0	11.376	0.48967	185	0.92771	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	471.98	35	chr1	179990615	.	A	G	471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.350e-01;DP=627;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=0.643;SOR=0.665	GT:AD:DP:GQ:PL	0/1:12,20:32:99:486,0,272	20	0	1	0
chr1	181651376	181651376	C	G	exonic	CACNA1E	.	stopgain	CACNA1E:NM_000721:exon7:c.C990G:p.Y330X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.080	31	3.16	1.233	1.894	10.219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	9.176e-05	0	0	0	0	0	0.0002	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000152	0.49130	D	0.184301	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.813	0.80964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.;.	.;.;.;.;High;.;.;.;.	7.541588	0.96621	36	0.99781923951723206	0.86867	0.94030	0.59902	D	AEFDBI	0.321650	0.42439	N	0.624659178573725	0.74736	6.183878	0.466905708948269	0.65809	4.871025	0.999982252266257	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.12	3.16	0.35406	1.546000	0.35787	1.050000	0.23629	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8307:0.0:0.1693	10.219	0.42363	702	0.57624	Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	516.78	82	chr1	181651376	.	C	G	516.78	.	AC=5;AF=0.250;AN=20;BaseQRankSum=-2.592e+00;DP=1988;ExcessHet=1.1607;FS=273.598;InbreedingCoeff=-0.3191;MLEAC=7;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.266;SOR=10.462	GT:AD:DP:GQ:PL	0/1:105,41:146:22:22,0,2064	5	0	5	11
chr1	182952875	182952875	C	T	exonic	SHCBP1L	.	nonsynonymous SNV	SHCBP1L:NM_030933:exon1:c.G259A:p.A87T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.0	B	0.001	B	0.713	N	0.934	D	0.345	N	0.88	T	-1.086	T	0.072	T	0.183	0.685	7.661	3.37	1.595	0.407	10.562	0.066	0.00219905016894	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1233094369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.18246	T	0.502	0.11115	T	.	.	.	.	.	.	0.713165	0.06269	N	1.225170	1	0.08975	N	.	.	.	0.88	0.46028	T	0.08	0.06026	N	0.217	0.24260	-1.0857	0.06281	T	0.072	0.29130	T	10	0.09435511	0.16771	T	0.002199	0.04151	T	0.066	0.19193	0.304	0.27325	0.0401082797425	0.02173	0.1316331871244243	0.13088	0.162268609732	0.18304	0.625117897987	0.56452	T	.	.	.	-0.286159	0.10025	T	-0.648824	0.09036	T	0.0671158804352457	0.08240	T	0.364964	0.08484	T	0.030501524	0.02726	0.05318392	0.08908	0.030501524	0.02725	0.05318392	0.08907	-5.862	0.45110	T	.	.	0.087	0.11027	B	.	.	0.753074	0.11226	7.859	0.98014915502542788	0.37582	0.00783	0.03212	N	AEFDBI	0.030043	0.02947	N	-0.914845378872758	0.10495	0.5017527	-0.898261993879333	0.12136	0.6224684	0.999994734434891	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.603991	0.37454	0	.	.	3.37	3.37	0.37692	0.606000	0.23891	1.130000	0.24318	-0.306000	0.06133	0.011000	0.18532	0.004000	0.18990	0.002000	0.04165	0.0:1.0:0.0:0.0	10.562	0.44341	607	0.67291	.	.	.	.	.	.	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	0.02381	557.98	33	chr1	182952875	.	C	T	557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=820;ExcessHet=0.0000;FS=1.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=-2.720e-01;SOR=1.002	GT:AD:DP:GQ:PL	0/1:36,24:60:99:572,0,899	20	0	1	0
chr1	200873840	200873840	A	T	exonic	GPR25	.	nonsynonymous SNV	GPR25:NM_005298:exon1:c.A803T:p.H268L,	.	.	363	1156	3	0	0	3	0.0012959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.014	B	0.017	B	0.364	U	0.785	N	-0.55	N	1.37	T	-1.016	T	0.032	T	0.48	0.543	6.941	4.62	1.721	1.446	5.585	0.201	0.033767549772	.	.	0.0002	0	8.962e-05	0	0	5.037e-05	0.0012	0.0011	0.0001682	26	154602	rs763346341	0.0001	0.0001	7.139e-05	0.0001	0.0009	9.123e-05	8.601e-05	0.0008	0.0007	2.992e-05	0	0.0009	0	0	0.0003	3.06e-05	0.0002	0.0009	6.602e-05	6.58e-05	5.162e-05	8.111e-05	0.0004	3.533e-05	2.628e-05	7.341e-05	3.048e-05	0	0	6.56e-05	0.0014	0	0	0	2.947e-05	0	0.0004	0.65	0.04848	T	0.605	0.07816	T	0.014	0.16867	B	0.017	0.18140	B	0.364288	0.13623	U	0.511992	0.784876	0.29292	N	-0.24	0.03895	N	1.37	0.34253	T	-2.16	0.48850	N	0.204	0.22614	-1.0163	0.24916	T	0.032	0.13767	T	10	0.023379087	0.00610	T	0.033768	0.55213	D	0.201	0.48592	0.588	0.71623	0.444404870569	0.44059	0.42861577720427235	0.42778	1.09498715062	0.77549	0.818857371807	0.84853	D	0.012408	0.10910	T	-0.442647	0.01248	T	-0.459049	0.26703	T	0.0367439637412836	0.03111	T	0.369163	0.08660	T	0.12296305	0.28882	0.117526725	0.28370	0.12296305	0.28882	0.117526725	0.28370	-0.935	0.00930	T	.	.	0.120	0.24833	B	.	.	2.354394	0.30192	18.36	0.93305085479157479	0.23019	0.17142	0.19707	N	AEFDBHCI	0.090691	0.18375	N	-0.683913308568022	0.16479	0.840007	-0.48969990254605	0.22437	1.218626	0.999876856823038	0.44625	0.495158	0.18159	0	0.616935	0.53198	0	0.478664	0.07449	1	0.554799	0.18163	0	.	.	4.62	4.62	0.56946	0.672000	0.24868	8.582000	0.77650	0.658000	0.54486	0.028000	0.20300	1.000000	0.68203	0.990000	0.65344	0.655:0.1756:0.0:0.1694	5.585	0.16550	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1462.98	33	chr1	200873840	.	A	T	1462.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=-1.221e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1477,0,1322	20	0	1	0
chr1	201209540	201209647	GGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	-	exonic	IGFN1	.	nonframeshift deletion	IGFN1:NM_001164586:exon12:c.4647_4754del:p.E1556_S1591del,	.	.	426	1075	15	0	6	21	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0	0	0	0.0073	0	0.0014	.	.	.	.	0.0006	0.0005	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0009	3.963e-05	0.0004	0.0221	0	0	0.0011	0.0001	0.0017	0.0011	0.0015	0.0012	0.0015	0.0015	0.0029	0.0013	0.0012	0.0014	0.0010	0.0002	0	0.0007	0.0425	0	0	0	0.0003	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	7193.51	294	chr1	201209539	.	CGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	GGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG,C	7193.51	.	AC=5,1;AF=0.250,0.050;AN=20;BaseQRankSum=3.28;DP=5820;ExcessHet=1.7912;FS=3.273;InbreedingCoeff=-0.3775;MLEAC=8,2;MLEAF=0.400,0.100;MQ=58.68;MQRankSum=-1.180e+01;QD=4.16;ReadPosRankSum=-5.710e+00;SOR=1.032	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,39,0:310:99:0|1:201209539_C_G:727,0,10742,1552,10859,12481:201209539	4	0	5	11
chr1	201209552	201209552	A	0	exonic	IGFN1	.	.	.	.	.	427	1062	28	0	5	33	0.0130112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6307.61	317	chr1	201209552	.	A	G,*	6307.61	.	AC=5,1;AF=0.417,0.083;AN=12;BaseQRankSum=-1.020e-01;DP=6709;ExcessHet=1.7912;FS=4.049;InbreedingCoeff=-0.4737;MLEAC=9,2;MLEAF=0.750,0.167;MQ=58.39;MQRankSum=-1.237e+01;QD=3.47;ReadPosRankSum=-6.142e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,60,0:324:99:0|1:201209539_C_G:1358,0,10567,2209,10801,13314:201209539	0	0	5	15
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG,	.	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21447.27	257	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	21447.27	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-9.710e-01;DP=6247;ExcessHet=0.0045;FS=0.524;InbreedingCoeff=0.2535;MLEAC=17;MLEAF=1.00;MQ=53.84;MQRankSum=-7.397e+00;QD=23.83;ReadPosRankSum=-9.608e+00;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:90,243:333:99:.:.:9883,551,0	1	3	2	15
chr1	201386873	201386876	CCCA	0	exonic	LAD1	.	.	.	.	.	409	980	89	5	39	138	0.0480816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3927.24	33	chr1	201386873	.	CCCA	C,*	3927.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.458;DP=1036;ExcessHet=0.3300;FS=1.817;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=1.49;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:60,0,52:112:99:0|1:201386872_GC_G:1962,2142,4610,0,2468,2311:201386872	18	0	2	0
chr1	201386876	201386878	ACC	0	exonic	LAD1	.	.	.	.	.	410	979	40	2	91	135	0.021978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1948.11	33	chr1	201386876	.	ACC	A,*	1948.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=0.832;DP=1037;ExcessHet=0.3300;FS=1.817;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=5.99;ReadPosRankSum=0.785;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,52,0:112:99:0|1:201386872_GC_G:1962,0,2311,2143,2468,4610:201386872	18	0	1	0
chr1	202746142	202746142	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon14:c.G2063A:p.R688Q	.	YES	429	1062	29	2	0	33	0.015299	0.9976	0.922	706998	not_provided|KDM5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.128	B	0.126	B	0.001	N	0.988	D	0.875	L	-2.49	D	-0.213	T	0.527	D	0.194	3.623	18.43	4.83	1.418	4.600	14.526	0.295	.	0.0008	0.00638978	0.0049	0.0002	0.0008	0	0.0091	0.0022	0.0056	0.0232	0.0043078	666	154602	rs144390145	0.0027	0.0027	0.0020	0.0033	0.0215	0.0026	0.0026	0.0206	0.0203	0.0002	0.0005	0.0079	5.048e-05	0.0084	0.0067	0.0010	0.0032	0.0215	0.0023	0.0023	0.0017	0.0030	0.0202	0.0021	0.0021	0.0169	0.0157	0.0001	0	0.0003	0.0063	0	0.0112	0	0.0015	0.0024	0.0202	0.037	0.43708	D	0.096	0.39340	T	0.128	0.27003	B	0.126	0.32692	B	0.000550	0.43413	N	0.267390	0.988208	0.40722	D	1.21	0.30464	L	-2.49	0.89145	D	-2.51	0.55181	D	0.088	0.07949	-0.2129	0.77338	T	0.527	0.82399	D	9	0.009380996	0.00212	T	.	.	.	0.295	0.61502	.	.	0.531679877283	0.52817	0.6327165268635838	0.63205	0.260510344994	0.28615	0.282812356949	0.07887	T	0.666658	0.90059	D	-0.333589	0.05844	T	-0.235698	0.51217	T	0.0268356139302734	0.01521	T	0.932307	0.75281	D	0.36550337	0.58251	0.24510102	0.49990	0.36327216	0.58084	0.28385857	0.54380	-7.829	0.59961	D	.	.	0.075	0.13221	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.738439	0.76397	26.5	0.99913855060512347	0.98238	0.95538	0.65120	D	AEFBI	0.611386	0.59985	D	-0.0328743581839105	0.40371	2.396308	0.139999071701741	0.46615	2.90461	0.999564826310346	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	4.83	0.61880	4.600000	0.60792	4.857000	0.45432	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.9299:0.0:0.0701	14.526	0.67474	451	0.79296	Zinc finger, C5HC2-type;.;.;.;.;.;.;.;Zinc finger, C5HC2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	751.98	61	chr1	202746142	.	C	T	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=1311;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-2.220e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/1:29,31:60:99:766,0,790	20	0	1	0
chr1	204261313	204261313	G	A	exonic	PLEKHA6	.	nonsynonymous SNV	PLEKHA6:NM_014935:exon7:c.C517T:p.R173W,	.	.	412	1095	14	1	0	16	0.00725295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.99	D	0.402	B	0.225	N	0.999	N	1.39	L	3.28	T	-1.076	T	0.017	T	0.381	2.540	14.45	5.56	2.601	4.830	16.254	0.105	.	0.0013	0.00219649	0.0019	0.0003	0.0042	0	0	0.0023	0.0066	0.0013	0.0019275	298	154602	rs141581226	0.0019	0.0019	0.0018	0.0020	0.0163	0.0018	0.0018	0.0136	0.0126	0.0011	0.0035	0.0123	2.519e-05	0	0.0163	0.0016	0.0032	0.0018	0.0016	0.0016	0.0016	0.0017	0.0036	0.0014	0.0014	0.0028	0.0026	0.0004	0	0.0036	0.0141	0	0	0.0102	0.0016	0.0038	0.0008	0.003	0.72154	D	0.018	0.76473	D	0.99	0.63424	D	0.402	0.44547	B	0.225397	0.16041	N	0.655487	0.998607	0.22043	N	1.7	0.43825	L	2.79	0.11189	T	-1.85	0.44657	N	0.434	0.50598	-1.0758	0.08184	T	0.017	0.06855	T	10	0.005449593	0.00120	T	.	.	.	0.105	0.29889	.	.	0.043077524339	0.03247	0.6050892427757084	0.60439	0.26449745186	0.28997	0.441804796457	0.30824	T	0.054144	0.29641	T	-0.452795	0.01087	T	-0.425922	0.30399	T	0.0598023135962764	0.07137	T	0.956054	0.83719	D	0.05917341	0.11995	0.09994748	0.23881	0.05917341	0.11995	0.09994748	0.23881	-10.399	0.76265	D	.	.	0.105	0.19235	B	.;.;.	.;.;.	4.002906	0.59000	24.0	0.9978737026042015	0.87308	0.96305	0.68491	D	AEFBI	0.701814	0.65839	D	0.194244416289756	0.50924	3.277811	0.152286917677565	0.47263	2.959197	0.999999997467479	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.56	5.56	0.83678	5.652000	0.67632	4.017000	0.41215	0.676000	0.76740	0.990000	0.36992	0.999000	0.35428	0.009000	0.08673	0.0:0.0:1.0:0.0	16.254	0.82323	829	0.39537	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1658.68	42	chr1	204261313	.	G	A	1658.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.12;DP=794;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=0.398;SOR=0.722	GT:AD:DP:GQ:PL	0/1:36,24:60:99:514,0,885	18	0	3	0
chr1	204460575	204460575	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon6:c.T1397C:p.V466A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.577	N	1.000	N	0	N	0.49	T	-1.028	T	0.064	T	0.021	-1.342	0.030	2.56	0.766	3.640	8.585	0.110	0.00554576004757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1195190376	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	0	1.159e-05	6.575e-06	6.567e-06	0	1.346e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	1.0	0.00964	T	0.801	0.04054	T	0.0	0.02946	B	0.0	0.01387	B	0.577223	0.11178	N	0.818992	0.999997	0.08975	N	0	0.06538	N	0.37	0.57729	T	1.38	0.00857	N	0.08	0.05542	-1.0282	0.21038	T	0.064	0.26562	T	10	0.04972583	0.04603	T	0.005546	0.14288	T	0.110	0.31079	0.415	0.45380	0.138757226776	0.13463	0.11695581202791344	0.11623	0.361612119172	0.37821	0.286048918962	0.08350	T	0.106991	0.41880	T	-0.351564	0.04630	T	-0.659909	0.08272	T	0.00897817517942448	0.00112	T	0.375462	0.08961	T	0.018732725	0.00396	0.03515796	0.02715	0.018732725	0.00396	0.03515796	0.02715	-0.11	0.00390	T	.	.	0.048	0.00094	B	.;.	.;.	1.123079	0.15092	11.58	0.2570741008678985	0.01198	0.10489	0.15982	N	AEFBCI	0.014159	0.00215	N	-1.15851885726537	0.05641	0.2576931	-0.996761931846487	0.09857	0.4929189	0.999892372829983	0.45129	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	5.81	2.56	0.29842	3.516000	0.53194	4.278000	0.42871	-0.884000	0.02433	0.561000	0.27433	0.999000	0.35428	0.155000	0.20479	0.0817:0.0:0.6374:0.2809	8.585	0.32814	624	0.65661	Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain;Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1333.98	35	chr1	204460575	.	A	G	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.020;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.95;ReadPosRankSum=0.390;SOR=0.729	GT:AD:DP:GQ:PL	0/1:90,59:149:99:1348,0,2319	20	0	1	0
chr1	205663060	205663060	C	A	exonic	SLC45A3	.	nonsynonymous SNV	SLC45A3:NM_033102:exon3:c.G731T:p.C244F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.001	D	0.995	D	1.295	L	0.89	T	-1.051	T	0.097	T	0.167	-0.028	3.872	5.39	2.517	3.256	14.482	0.084	0.0234133055203	.	.	.	.	.	.	.	.	.	.	.	.	.	rs938014311	6.872e-07	2.052e-06	1.366e-06	0	2.251e-05	0	0	.	.	0	2.251e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.11659	T	0.325	0.18846	T	0.0	0.02946	B	0.0	0.01387	B	0.000545	0.43413	D	0.318283	0.995198	0.42584	D	-0.605	0.02211	N	0.89	0.45636	T	0.55	0.02721	N	0.174	0.18649	-1.0509	0.14147	T	0.097	0.36496	T	10	0.09066236	0.15813	T	0.023413	0.46369	T	0.084	0.24469	0.326	0.30873	0.0666544352282	0.05500	0.5881018317321155	0.58740	0.545184907824	0.51560	0.563336849213	0.47739	T	0.060393	0.31374	T	-0.22333	0.17540	T	-0.558574	0.16511	T	0.519872665405273	0.33360	D	0.618638	0.23716	T	0.110302806	0.26072	0.124481924	0.30003	0.110302806	0.26072	0.124481924	0.30003	-5.009	0.36938	T	.	.	0.088	0.11461	B	.	.	2.169436	0.27642	17.53	0.65331814721806047	0.07742	0.78238	0.38570	D	AEFDBI	0.302969	0.41106	N	-0.350811834062246	0.27241	1.493086	-0.285343693865238	0.28581	1.594681	0.999999999664476	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	5.39	5.39	0.77615	2.801000	0.47603	7.623000	0.62394	0.596000	0.33519	0.975000	0.34726	1.000000	0.68203	0.007000	0.07825	0.1476:0.8524:0.0:0.0	14.482	0.67169	686	0.59327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	288.98	33	chr1	205663060	.	C	A	288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.194;DP=765;ExcessHet=0.0000;FS=2.952;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.42;ReadPosRankSum=-1.250e-01;SOR=1.426	GT:AD:DP:GQ:PL	0/1:32,13:45:99:303,0,881	20	0	1	0
chr1	210238133	210238133	C	A	exonic	SERTAD4	.	nonsynonymous SNV	SERTAD4:NM_001354173:exon2:c.C173A:p.A58E	.	.	.	.	.	.	.	.	.	0.0115	0.196	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.7	P	0.229	B	0.003	N	1.000	D	0.46	N	.	.	-0.947	T	0.102	T	0.631	2.575	14.57	4.45	1.244	4.584	14.996	0.165	0.0108236364897	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1421323434	2.07e-06	3.42e-06	2.746e-06	1.388e-06	1.185e-05	5.5e-07	1.5e-07	.	.	0	0	3.975e-05	0	0	0	0	1.676e-05	1.185e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.019	0.59159	D	0.7	0.41856	P	0.229	0.38155	B	0.002807	0.35900	N	0.184718	0.999987	0.54805	D	1.5	0.37844	L	.	.	.	-1.52	0.36980	N	0.46	0.49692	-0.9465	0.41566	T	0.102	0.37743	T	9	0.21065408	0.37467	T	0.010824	0.27789	T	0.165	0.42395	0.249	0.18602	0.143184338766	0.13958	0.2550739583045576	0.25421	0.199109149286	0.22306	0.55301296711	0.46283	T	0.012646	0.11078	T	0.0868789	0.62836	D	-0.112981	0.62374	T	0.433723419904709	0.30198	T	.	.	.	0.28940344	0.51937	0.40748748	0.65093	0.28940344	0.51937	0.40748748	0.65093	-4.002	0.23834	T	.	.	0.184	0.39949	B	.	.	3.794626	0.54638	23.5	0.98575635088307645	0.43167	0.95886	0.66577	D	AEFDBI	0.646836	0.62223	D	-0.0787575819518349	0.38325	2.242937	0.0264068362404816	0.40944	2.451793	0.999999887250792	0.74766	0.653281	0.48532	0	0.59043	0.45803	0	0.527494	0.11647	0	0.669	0.65921	0	.	.	5.37	4.45	0.53365	3.465000	0.52828	7.677000	0.65097	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.8564:0.1435:0.0	14.996	0.71084	700	0.57880	.	.	.	.	.	.	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	0.02381	461.98	41	chr1	210238133	.	C	A	461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.282e+00;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.500e+00;SOR=0.941	GT:AD:DP:GQ:PL	0/1:23,16:39:99:476,0,724	20	0	1	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.996	D	0.000	D	0.989	D	1.795	L	-0.53	T	-0.381	T	0.393	T	0.433	3.843	19.52	3.55	0.781	1.239	11.901	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	1408.15	87	chr1	212100361	.	C	G	1408.15	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.253e+00;DP=2254;ExcessHet=3.5521;FS=100.771;InbreedingCoeff=-0.2600;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.54;ReadPosRankSum=1.61;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,18:102:97:0|1:212100361_C_G:97,0,2857:212100361	11	0	8	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	1.0	D	0.998	D	0.000	D	1.000	D	1.845	L	-0.74	T	-0.175	T	0.536	D	0.259	3.999	20.5	5.41	2.697	4.959	19.553	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	1127.66	57	chr1	212100362	.	C	G	1127.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.580e+00;DP=1907;ExcessHet=2.5830;FS=91.638;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.46;ReadPosRankSum=1.70;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,18:102:97:0|1:212100361_C_G:97,0,2857:212100361	14	0	7	0
chr1	214645259	214645259	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T5689C:p.F1897L,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.012	B	0.006	B	0.387	N	0.996	N	0.9	L	1.98	T	-0.979	T	0.033	T	0.095	1.289	10.22	4.32	0.912	3.074	9.207	0.078	0.00980712402638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.433	0.13595	T	.	.	.	.	.	.	0.387254	0.13306	N	0.622917	0.996025	0.23136	N	.	.	.	1.98	0.21865	T	-1.74	0.41239	N	0.163	0.17140	-0.9785	0.35345	T	0.033	0.14203	T	10	0.07286334	0.10934	T	0.009807	0.25586	T	0.078	0.22779	.	.	0.101711395817	0.09552	0.1427222850839343	0.14195	0.0596198842535	0.06628	0.393260717392	0.24128	T	.	.	.	-0.260978	0.12786	T	-0.612653	0.11770	T	0.274424522710853	0.23935	T	0.527047	0.17380	T	0.08159175	0.18754	0.074692726	0.16368	0.08159175	0.18754	0.074692726	0.16367	-2.043	0.03347	T	.	.	0.785	0.76596	P	.	.	1.885814	0.23953	16.21	0.97445370788974561	0.34002	0.87114	0.46557	D	AEFBCI	0.219672	0.34452	N	-0.641218653764995	0.17716	0.9139967	-0.539133036135939	0.21094	1.139528	0.992379880728038	0.32817	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	4.32	0.50899	3.081000	0.49818	1.110000	0.24149	0.644000	0.52426	1.000000	0.71638	0.016000	0.20520	0.957000	0.51019	0.0:0.1458:0.0:0.8542	9.207	0.36459	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1905	842.74	162	chr1	214645259	.	T	C	842.74	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-4.014e+00;DP=2279;ExcessHet=3.5521;FS=127.609;InbreedingCoeff=-0.2304;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=1.21;SOR=11.454	GT:AD:DP:GQ:PL	0/1:111,28:139:61:61,0,2051	13	0	8	0
chr1	223395006	223395006	G	C	exonic	CCDC185	.	nonsynonymous SNV	CCDC185:NM_152610:exon1:c.G1531C:p.D511H,	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.948	D	.	.	1.000	N	1.67	L	1.56	T	-1.010	T	0.141	T	0.322	1.749	11.81	3.62	0.690	3.761	9.655	0.090	.	0.0003	0.00219649	0.0011	0	8.655e-05	0	0	0.0008	0.0033	0.0048	0.0010349	160	154602	rs150515474	0.0007	0.0007	0.0005	0.0008	0.0048	0.0006	0.0006	0.0045	0.0043	2.987e-05	0.0003	0.0077	0	0	0.0024	0.0002	0.0013	0.0048	0.0005	0.0005	0.0005	0.0006	0.0064	0.0005	0.0004	0.0047	0.0041	0	0	0.0003	0.0046	0	0	0.0034	0.0004	0	0.0064	0.004	0.65419	D	0.017	0.60337	D	0.999	0.77913	D	0.948	0.68536	D	.	.	.	.	0.99961	0.20887	N	1.245	0.31408	L	1.56	0.29602	T	-3.0	0.62343	D	0.241	0.27197	-1.0100	0.26917	T	0.141	0.46183	T	9	0.0051342845	0.00111	T	.	.	.	0.090	0.26093	.	.	0.282179105231	0.27821	0.012092483072575582	0.01168	0.631166728374	0.57081	.	.	.	0.134834	0.46631	T	-0.47559	0.00785	T	-0.455936	0.27042	T	0.126171853596467	0.15024	T	0.609739	0.23084	T	0.18793468	0.40270	0.21598133	0.46208	0.18793468	0.40270	0.21598133	0.46207	-3.76	0.20208	T	.	.	0.406	0.59937	A	.	.	3.343312	0.46082	22.2	0.99154341483750907	0.53903	0.88046	0.47806	D	AEFDBI	0.218554	0.34354	N	0.193755788699777	0.50900	3.275662	0.0606099550251631	0.42587	2.578497	0.118676830479587	0.16828	0.487112	0.14033	0	0.573888	0.26702	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	5.48	3.62	0.40616	4.936000	0.63206	3.603000	0.39228	0.676000	0.76740	1.000000	0.71638	0.956000	0.29165	0.630000	0.32157	0.1683:0.0:0.8317:0.0	9.655	0.39083	884	0.28482	.	.	.	.	.	.	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	0.02381	1966.98	38	chr1	223395006	.	G	C	1966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.489;DP=870;ExcessHet=0.0000;FS=1.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=0.423;SOR=0.563	GT:AD:DP:GQ:PL	0/1:49,72:121:99:1981,0,1319	20	0	1	0
chr1	225353859	225353862	AAAC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11590_11593del:p.K3864Sfs*10,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.874e-06	4.655e-05	7.26e-06	4.456e-06	7.615e-06	2.53e-06	1.83e-06	3.28e-06	2.37e-06	0	0	0	0	0	0	7.615e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	315.94	36	chr1	225353858	.	GAAAC	G	315.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.585;DP=772;ExcessHet=0.0000;FS=75.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.00;ReadPosRankSum=0.564;SOR=6.090	GT:AD:DP:GQ:PL	0/1:59,20:79:99:330,0,2197	20	0	1	0
chr1	225353859	225353859	-	GG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11590_11591insGG:p.K3864Rfs*12,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	273.74	68	chr1	225353859	.	A	AGG,*	273.74	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.776e+00;DP=974;ExcessHet=0.1128;FS=176.894;InbreedingCoeff=0.0918;MLEAC=1,1;MLEAF=0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.74;ReadPosRankSum=2.02;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:59,0,20:79:99:.:.:330,507,2759,0,2251,2197	17	0	1	2
chr1	225353859	225353859	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	273.74	68	chr1	225353859	.	A	AGG,*	273.74	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.776e+00;DP=974;ExcessHet=0.1128;FS=176.894;InbreedingCoeff=0.0918;MLEAC=1,1;MLEAF=0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.74;ReadPosRankSum=2.02;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:59,0,20:79:99:.:.:330,507,2759,0,2251,2197	17	0	1	2
chr1	225353860	225353860	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11591G:p.K3864R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.112	B	0.061	B	.	.	1.000	D	.	.	3.13	T	-0.960	T	0.017	T	0.139	2.173	13.22	4.96	1.975	1.458	12.415	0.042	0.0424221383888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0016	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	6.329e-05	0	0.0004	0.0005	0	0.0003	0.0002	6.899e-05	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.086	0.40909	T	0.112	0.26290	B	0.061	0.26820	B	.	.	.	.	1	0.81001	D	.	.	.	3.13	0.08014	T	-1.32	0.32991	N	0.141	0.17140	-0.9601	0.39162	T	0.017	0.06759	T	8	0.075534165	0.11687	T	0.042422	0.60457	D	0.042	0.11227	0.473	0.54859	0.233150807113	0.22925	.	.	.	.	0.547701478004	0.45533	T	.	.	.	-0.290318	0.09604	T	-0.654798	0.08622	T	0.429603158532435	0.30046	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	-5.073	0.37622	T	.	.	.	.	.	.;.	.;.	2.621798	0.34075	19.52	0.98831738548241499	0.46969	0.78159	0.38520	D	AEFI	0.292450	0.40332	N	-0.1412954714505	0.35606	2.047334	0.0119223341972131	0.40267	2.400417	0.496201815749716	0.20905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	1.434000	0.34567	3.589000	0.39183	0.709000	0.85303	0.997000	0.40164	0.992000	0.31684	0.992000	0.67800	1.0:0.0:0.0:0.0	12.415	0.54820	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:59,0,0,20:79:99:.:.:330,507,2759,507,2759,2759,0,2251,2251,2197	12	0	5	2
chr1	225353861	225353862	AC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11592_11593del:p.K3864Nfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:59,0,0,20:79:99:.:.:330,507,2759,507,2759,2759,0,2251,2251,2197	12	0	5	2
chr1	225353860	225353862	AAC	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:59,0,0,20:79:99:.:.:330,507,2759,507,2759,2759,0,2251,2251,2197	12	0	5	2
chr1	225353861	225353861	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	464.81	81	chr1	225353861	.	A	G,*	464.81	.	AC=5,2;AF=0.147,0.059;AN=34;BaseQRankSum=-1.464e+00;DP=1141;ExcessHet=2.7391;FS=185.320;InbreedingCoeff=-0.2299;MLEAC=5,2;MLEAF=0.147,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.83;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:59,0,20:79:99:.:.:330,507,2759,0,2251,2197	10	0	5	4
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.987	D	.	.	1.000	D	.	.	3.07	T	-1.168	T	0.067	T	0.206	3.493	17.86	4.96	2.441	4.553	15.452	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:49,0,20,0:73:99:.:.:340,513,2056,0,1673,2159,513,2056,1673,2056	12	0	5	1
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:49,0,20,0:73:99:.:.:340,513,2056,0,1673,2159,513,2056,1673,2056	12	0	5	1
chr1	225353862	225353862	C	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:49,0,20,0:73:99:.:.:340,513,2056,0,1673,2159,513,2056,1673,2056	12	0	5	1
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.97	D	0.003	N	1.000	D	1.995	M	1.96	T	0.348	D	0.643	D	0.677	4.366	23.0	5.21	2.430	8.082	18.735	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	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	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/2:37,0,15:52:62:62,162,669,0,507,467	3	0	12	4
chr1	225514708	225514708	G	C	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995G:p.A332G	.	.	425	1069	28	0	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.97	D	0.003	N	1.000	D	2.545	M	1.97	T	0.305	D	0.679	D	0.661	4.523	24.4	5.21	2.430	8.082	18.735	0.251	0.134379640135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	9.689e-05	2.258e-05	3.953e-05	2.59e-05	0	0	0.0002	0.0001	7.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.183	0.39340	T	0.994	0.66517	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999496	0.58761	D	2.62	0.76659	M	-0.04	0.63240	T	-1.88	0.43906	N	0.603	0.62950	0.305	0.87637	D	0.679	0.88907	D	10	0.44018695	0.58051	T	0.13438	0.81681	D	0.251	0.56024	0.122	0.02867	0.652436559791	0.64954	0.11579549220610402	0.11507	0.929717523318	0.71774	0.644413113594	0.59191	T	0.218669	0.58146	T	0.124294	0.66801	D	-0.0592364	0.66386	T	0.932058036327362	0.59784	D	0.871513	0.63166	D	0.18916725	0.40447	0.18597509	0.41743	0.18916725	0.40446	0.18597509	0.41742	-9.88	0.74330	D	.	.	0.252	0.51900	B	.;.;.	.;.;.	4.037834	0.59751	24.1	0.99785765454140729	0.87219	0.99631	0.98164	D	AEFDBI	0.890935	0.82643	D	0.742122182897517	0.82390	7.750937	0.716777429846324	0.83653	8.078442	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/2:37,0,15:52:62:62,162,669,0,507,467	3	0	12	4
chr1	228376047	228376047	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon99:c.G22826A:p.C7609Y	.	.	0	1509	12	1	0	14	0.00461741	.	.	743725	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.675	P	0.202	B	0.004	N	1.000	D	2.05	M	2.01	T	-1.098	T	0.062	T	0.591	4.550	24.6	5.21	2.712	7.497	18.945	0.237	0.0192614281446	.	0.000599042	0.0004	0	0.0002	0	0	0.0001	0.0045	0.0018	0.0003428	53	154602	rs539506090	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0001	0.0015	0.0013	0	2.236e-05	0.0005	2.519e-05	0	0.0024	5.576e-05	0.0004	0.0016	0.0001	0.0001	8.996e-05	0.0002	0.0017	8.165e-05	6.722e-05	0.0008	0.0006	0	0	0	0.0003	0	0	0	0.0001	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.675	0.41275	P	0.202	0.36942	B	0.003684	0.34611	N	0.266072	0.994686	0.43422	D	2.56	0.74772	M	2.01	0.21291	T	-5.87	0.88630	D	0.548	0.57433	-1.0979	0.04354	T	0.062	0.25994	T	10	0.034358174	0.01641	T	0.019261	0.41574	T	0.237	0.54074	.	.	0.543031892603	0.53955	0.7683801790416258	0.76787	0.633457458535	0.57241	0.581481218338	0.50294	T	0.276813	0.64941	T	-0.308493	0.07881	T	-0.251283	0.49690	T	0.223038576732511	0.21615	T	0.807219	0.45710	T	0.80426246	0.84179	0.8381216	0.90715	0.80426246	0.84181	0.8381216	0.90715	-8.016	0.61179	D	.	.	0.713	0.73487	P	.;.;.;.	.;.;.;.	3.584709	0.50557	23.0	0.98040367053105959	0.37782	0.99280	0.93881	D	AEFDBI	0.945949	0.95484	D	0.366833306634441	0.59634	4.144442	0.446872782938076	0.64516	4.708583	0.999999994335695	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	7.372000	0.78868	11.607000	0.93518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:1.0:0.0	18.945	0.92594	428	0.80967	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1512.98	36	chr1	228376047	.	G	A	1512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.206e+00;DP=878;ExcessHet=0.0000;FS=3.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-2.585e+00;SOR=0.630	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1527,0,1881	20	0	1	0
chr1	230759533	230759533	C	T	exonic	CAPN9	.	nonsynonymous SNV	CAPN9:NM_006615:exon3:c.C305T:p.A102V	.	.	427	1078	16	1	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.000	D	0.000	P	4.07	H	1.41	T	-0.715	T	0.011	T	0.89	5.253	33	5.32	2.490	7.486	18.988	0.458	.	0.0004	0.0283546	0.0127	0.0011	0.0045	0.0948	0	0.0006	0.0231	0.0364	0.0116169	1796	154602	rs12562749	0.0050	0.0050	0.0041	0.0058	0.0860	0.0049	0.0048	0.0836	0.0826	0.0009	0.0032	0.0005	0.0860	5.62e-05	0.0037	0.0004	0.0084	0.0314	0.0052	0.0052	0.0045	0.0059	0.0897	0.0049	0.0048	0.0830	0.0803	0.0012	0	0.0022	0	0.0897	0.0002	0.0034	0.0007	0.0043	0.0385	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	2.31193e-13	0.81001	P	3.6	0.93737	H	1.41	0.33412	T	-3.77	0.71397	D	0.335	0.50958	-0.7151	0.59702	T	0.011	0.04369	T	9	0.004550785	0.00094	T	.	.	.	0.458	0.75619	.	.	.	.	0.8073456928734869	0.80689	0.456818619681	0.45336	0.740805983543	0.73091	T	0.541711	0.84321	D	-0.10579	0.35466	T	0.148222	0.80072	D	0.0808720618378624	0.10098	T	0.984801	0.94749	D	0.9138349	0.92655	0.77936894	0.86991	0.9138349	0.92656	0.77936894	0.86991	-12.595	0.87628	D	.	.	0.707	0.78501	P	.;.	.;.	4.177704	0.62865	24.5	0.99914942779407778	0.98309	0.95502	0.64976	D	AEFBCI	0.911984	0.87201	D	1.006661387257	0.95945	14.13258	0.903114292096992	0.95706	13.88581	0.999999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	7.632000	0.82419	7.092000	0.57508	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.508000	0.29198	0.0:1.0:0.0:0.0	18.988	0.92759	929	0.16858	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, 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	0.02381	631.98	33	chr1	230759533	.	C	T	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.948e+00;DP=755;ExcessHet=0.0000;FS=2.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.054;SOR=0.767	GT:AD:DP:GQ:PL	0/1:29,29:58:99:646,0,760	20	0	1	0
chr1	230762651	230762651	A	G	splicing	CAPN9	NM_001319676:exon2:c.214-2A>G;NM_016452:exon4:c.403-2A>G;NM_006615:exon4:c.403-2A>G	.	.	.	.	430	1074	17	1	0	19	0.00876788	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	4.383	23.2	5.33	2.013	8.844	15.288	.	.	0.0005	0.0267572	0.0119	0.0011	0.0044	0.0845	0	0.0006	0.0233	0.0365	0.0108472	1677	154602	rs28359631	0.0047	0.0047	0.0039	0.0056	0.0795	0.0047	0.0046	0.0771	0.0762	0.0004	0.0032	0.0005	0.0795	5.619e-05	0.0036	0.0005	0.0069	0.0309	0.0048	0.0048	0.0040	0.0056	0.0827	0.0045	0.0044	0.0762	0.0737	0.0008	0	0.0016	0	0.0827	0.0002	0.0034	0.0007	0.0028	0.0380	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1e-37	0.81001	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0397621	0.45983	T	0.23264	0.84798	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.617992	0.95491	35	0.99549252921280917	0.71023	0.97728	0.76704	D	AEFBI	.	.	.	1.1349366255534	0.98732	19.18353	0.982373999307412	0.98257	17.802	0.999999999411889	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.971198	0.73451	5.33	5.33	0.75683	8.908000	0.92231	8.413000	0.77131	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	15.288	0.73545	923	0.18507	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1386.98	34	chr1	230762651	.	A	G	1386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=866;ExcessHet=0.0000;FS=5.999;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.07;ReadPosRankSum=0.390;SOR=1.144	GT:AD:DP:GQ:PL	0/1:91,62:153:99:1401,0,2100	20	0	1	0
chr1	233362251	233362251	C	G	exonic	MAP3K21	.	nonsynonymous SNV	MAP3K21:NM_032435:exon5:c.C1510G:p.R504G,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.975	D	0.000	D	1.000	D	2.14	M	2.55	T	-1.126	T	0.087	T	0.743	3.759	19.09	4.67	2.408	3.702	12.817	0.147	0.0412452770363	7.7e-05	0.000199681	5.77e-05	0	8.64e-05	0	0	4.5e-05	0	0.0002	5.17e-05	8	154602	rs200368585	4.583e-05	4.583e-05	3.675e-05	5.5e-05	0.0001	3.661e-05	3.347e-05	8e-05	6.238e-05	0	2.236e-05	0	0	0	0	4.317e-05	9.935e-05	0.0001	2.626e-05	2.625e-05	5.138e-05	0	6.536e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.536e-05	0	0	0	0	4.41e-05	0	0	0.023	0.78490	D	0.003	0.76473	D	0.993	0.73220	D	0.93	0.73362	D	0.000000	0.84330	D	0.000000	0.999929	0.51308	D	.	.	.	2.55	0.13795	T	-6.42	0.91609	D	0.624	0.73555	-1.1260	0.01983	T	0.087	0.33606	T	10	0.5621877	0.64850	D	0.041245	0.59822	D	0.147	0.38986	.	.	0.47409059586	0.47039	0.49322151124819474	0.49243	2.00863159342	0.93903	0.622916579247	0.56142	T	0.157261	0.49978	T	-0.110354	0.34709	T	-0.193638	0.55248	T	0.823910772800446	0.48064	D	0.935906	0.76011	D	0.7743147	0.82307	0.6805713	0.81231	0.7743147	0.82308	0.6805713	0.81232	-13.105	0.93198	D	.	.	0.473	0.86720	A	.;.	.;.	4.649167	0.74094	26.1	0.99855325831688535	0.93458	0.98152	0.80048	D	AEFDBI	0.786034	0.71624	D	0.559610671190442	0.70670	5.535684	0.495586714096204	0.67696	5.118854	0.999999999877229	0.74766	0.617157	0.39670	1	0.588066	0.40923	0	0.786243	0.99158	0	0.567892	0.33627	0	.	.	4.67	4.67	0.58089	3.909000	0.56076	2.946000	0.35689	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.997000	0.79791	0.1634:0.8366:0.0:0.0	12.817	0.57051	910	0.22284	.;.	.	.	.	.	.	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	0.02381	1163.98	39	chr1	233362251	.	C	G	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=850;ExcessHet=0.0000;FS=1.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.56;ReadPosRankSum=-1.120e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/1:83,53:136:99:1178,0,1881	20	0	1	0
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	6284.06	46	chr1	240207806	.	C	T,*	6284.06	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=0.800;DP=850;ExcessHet=4.1217;FS=8.259;InbreedingCoeff=-0.1533;MLEAC=13,1;MLEAF=0.464,0.036;MQ=50.66;MQRankSum=0.217;QD=15.95;ReadPosRankSum=0.00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,12,0:31:99:0|1:240207806_C_T:265,0,447,321,483,804:240207806	4	1	8	7
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.288	B	0.157	B	0.015	N	1.000	N	1.59	L	0.96	T	-1.004	T	0.097	T	0.474	1.753	11.82	5.78	2.206	4.328	12.493	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1429	1231.01	149	chr1	243330649	.	T	C	1231.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.731e+00;DP=2188;ExcessHet=1.7912;FS=129.457;InbreedingCoeff=-0.1662;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.60;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,31:197:99:0|1:243330649_T_C:185,0,5517:243330649	15	0	6	0
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.003	B	0.015	N	1.000	N	0.69	N	0.94	T	-1.038	T	0.059	T	0.245	-0.215	2.958	3.84	0.719	2.003	6.558	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.09524	816.92	127	chr1	243330650	.	G	A	816.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.186e+00;DP=1692;ExcessHet=0.6776;FS=142.985;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.98;ReadPosRankSum=3.04;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,31:197:99:0|1:243330649_T_C:185,0,5517:243330649	17	0	4	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3294.69	34	chr1	248361672	.	A	G,*	3294.69	.	AC=1,14;AF=0.025,0.350;AN=40;BaseQRankSum=-7.600e-01;DP=3320;ExcessHet=0.8717;FS=8.880;InbreedingCoeff=0.0286;MLEAC=1,14;MLEAF=0.025,0.350;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=0.556;SOR=0.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:186,0,38:224:99:0|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:1023,1583,9393,0,7809,7675:248361635	8	0	1	1
chr1	248406232	248406232	A	G	exonic	OR2T1	.	nonsynonymous SNV	OR2T1:NM_030904:exon1:c.A238G:p.I80V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.001	B	0.043	U	1.000	N	-0.2	N	4.07	T	-0.935	T	0.004	T	0.069	-1.514	0.016	-5.41	-0.587	-1.364	4.293	0.002	0.00102223275083	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454654192	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.602	0.07894	T	0.0	0.02946	B	0.001	0.04355	B	0.043409	0.23741	U	0.203527	1	0.08975	N	0.175	0.09039	N	4.07	0.03033	T	0.21	0.04776	N	0.039	0.01274	-0.9346	0.43455	T	0.004	0.01226	T	10	0.041002035	0.02716	T	0.001022	0.01120	T	0.002	0.00045	0.367	0.37524	0.0716867268079	0.06686	0.03282831461294318	0.03230	0.0118324598183	0.01115	0.214069515467	0.00996	T	0.003864	0.03272	T	-0.497507	0.00590	T	-0.855557	0.00892	T	0.0211606445397522	0.00818	T	0.143986	0.01172	T	0.028645385	0.02235	0.026727654	0.00779	0.028645385	0.02234	0.026727654	0.00779	-2.875	0.08896	T	.	.	0.065	0.01859	B	.;.	.;.	-0.860230	0.00994	0.040	0.23808219423539684	0.01023	0.01881	0.05786	N	AEFBI	0.037003	0.05020	N	-1.75115778150538	0.00676	0.02916092	-1.77184807749597	0.00854	0.03814095	0.227369728459863	0.18426	0.559995	0.30671	0	0.624146	0.53433	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	-5.41	0.02442	-1.541000	0.02302	-9.680000	0.00790	-0.692000	0.04118	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1926:0.2369:0.4547:0.1158	4.293	0.10335	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	109.25	104	chr1	248406232	.	A	G	109.25	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.896e+00;DP=2234;ExcessHet=0.0000;FS=152.173;InbreedingCoeff=-0.0356;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.49;ReadPosRankSum=3.76;SOR=7.614	GT:AD:DP:GQ:PL	0/1:181,44:225:99:123,0,4103	20	0	1	0
chr1	248848240	248848240	C	A	exonic	ZNF672	.	nonsynonymous SNV	ZNF672:NM_024836:exon4:c.C966A:p.D322E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.008	B	0.002	U	1.000	N	-0.02	N	1.3	T	-1.046	T	0.035	T	0.084	2.800	15.33	2.39	0.963	-0.238	3.837	0.018	0.00868446804641	.	.	3.315e-05	0	0	0	0	6.031e-05	0	0	1.94e-05	3	154602	rs745545294	4.139e-06	6.157e-06	5.491e-06	2.773e-06	0.0003	1.49e-06	9.8e-07	6.099e-05	2.524e-05	0	0	0.0001	0	0	0.0003	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.185	0.28958	T	0.01	0.15535	B	0.008	0.13708	B	0.001775	0.38052	U	0.000000	0.999953	0.19072	N	-0.275	0.03743	N	1.3	0.35590	T	0.36	0.03700	N	0.128	0.12198	-1.0458	0.15592	T	0.035	0.14900	T	9	0.049171746	0.04467	T	0.008684	0.22927	T	0.018	0.03083	0.317	0.29419	0.126345400529	0.12197	0.040964682446968506	0.04041	1.37926964747	0.84740	0.806568264961	0.82965	D	0.007033	0.06451	T	-0.301473	0.08521	T	-0.670821	0.07556	T	0.28535598358898	0.24396	T	0.756224	0.37950	T	0.08235935	0.18970	0.059583373	0.11206	0.08235935	0.18970	0.059583373	0.11206	-2.588	0.06413	T	.	.	0.878	0.81367	P	.	.	2.559699	0.33151	19.25	0.99468632591343387	0.66207	0.26314	0.22957	N	AEFBI	0.173360	0.30044	N	-0.724235826158136	0.15341	0.7723356	-0.630379139931215	0.18715	1.000945	0.99979560328872	0.43153	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	3.3	2.39	0.28492	-0.765000	0.04836	2.067000	0.30424	0.599000	0.40250	0.000000	0.06391	0.999000	0.35428	0.846000	0.39970	0.2401:0.6326:0.0:0.1273	3.837	0.08410	976	0.04745	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1591.98	42	chr1	248848240	.	C	A	1591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.02;DP=903;ExcessHet=0.0000;FS=2.240;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-2.040e+00;SOR=0.481	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1606,0,1646	20	0	1	0
chr2	1644637	1644637	G	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon18:c.C3724T:p.R1242C,	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	.	420	1101	1	0	0	1	0.000453926	.	.	2717142	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.000	D	1.000	D	3.725	H	-0.75	T	0.584	D	0.679	D	0.68	4.231	22.0	5.43	2.533	4.593	14.114	0.644	0.209661750436	.	.	6.668e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs778091236	7.771e-05	8.072e-05	6.567e-05	8.988e-05	0.0008	6.567e-05	6.168e-05	0.0006	0.0006	3.009e-05	0	0	5.072e-05	0	0.0003	3.523e-05	6.666e-05	0.0008	2.631e-05	2.627e-05	3.857e-05	1.346e-05	0.0004	8.15e-06	5.14e-06	7.318e-05	3.039e-05	2.416e-05	0	0	0	0.0002	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000048	0.53742	D	0.125504	0.999999	0.58761	D	3.47	0.92451	M	-0.75	0.73311	T	-6.97	0.93544	D	0.793	0.78927	0.584	0.91686	D	0.679	0.88892	D	10	0.8609005	0.85309	D	0.209662	0.87211	D	0.644	0.86485	0.752	0.88237	0.881597688399	0.88044	0.9251150563043892	0.92488	0.86120817891	0.68970	0.707100093365	0.68173	T	0.320928	0.69207	T	-0.0671632	0.41778	T	0.0391987	0.72875	D	0.949402928352356	0.63107	D	0.978002	0.92190	D	0.83762515	0.86439	0.61540014	0.77613	0.83762515	0.86441	0.61540014	0.77614	-13.036	0.89512	D	0.7893737284620618	0.86806	0.261	0.49557	B	.	.	5.532079	0.91880	32	0.99935716927942753	0.99579	0.97955	0.78405	D	AEFDGBI	0.854227	0.77124	D	0.865677643619925	0.89981	10.20133	0.770472553992273	0.87677	9.305378	0.99999999993427	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	5.503000	0.66679	11.431000	0.92740	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.438000	0.27627	0.0:0.0:0.8497:0.1503	14.114	0.64672	824	0.40336	Peroxidasin, peroxidase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	866.98	34	chr2	1644637	.	G	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.000e-03;DP=774;ExcessHet=0.0000;FS=1.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=1.22;SOR=1.049	GT:AD:DP:GQ:PL	0/1:35,37:72:99:881,0,800	20	0	1	0
chr2	9845286	9845286	T	C	exonic	TAF1B	.	nonsynonymous SNV	TAF1B:NM_005680:exon2:c.T85C:p.Y29H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.985	D	0.000	D	1.000	D	1.15	L	0.49	T	-0.741	T	0.237	T	0.812	3.796	19.27	5.74	2.194	5.213	13.570	0.339	0.0248866284129	.	0.000199681	2.472e-05	0	0	0	0	4.497e-05	0	0	3.88e-05	6	154602	rs142457164	8.758e-05	8.756e-05	8.441e-05	9.078e-05	0.0003	7.489e-05	7.036e-05	8.302e-05	7.72e-05	0	0.0001	3.828e-05	0	0	0.0003	9.804e-05	0.0001	1.159e-05	3.283e-05	3.281e-05	6.426e-05	0	7.351e-05	1.26e-05	7.97e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.048901	1	0.81001	D	2.045	0.56016	M	0.49	0.55775	T	-3.37	0.66665	D	0.598	0.61680	-0.7406	0.58422	T	0.237	0.60379	T	9	0.44752118	0.58491	T	0.024887	0.47875	T	0.339	0.66106	.	.	0.856071475115	0.85468	0.6619175372278572	0.66128	0.619585445273	0.56300	0.708849787712	0.68427	T	0.121551	0.44460	T	-0.00272224	0.51278	T	0.0133591	0.71200	D	0.738775849342346	0.42671	D	0.90281	0.72323	D	0.75710064	0.81283	0.7068559	0.82716	0.75710064	0.81284	0.7068559	0.82717	-7.709	0.59070	D	.	.	0.810	0.77736	P	.;.	.;.	4.864985	0.79640	27.1	0.99807882249100655	0.89174	0.90855	0.52388	D	AEFBI	0.652254	0.62571	D	0.557818488211276	0.70559	5.519391	0.589479278012631	0.74183	6.094086	0.999999983525809	0.74766	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.651492	0.60203	0	.	.	5.74	5.74	0.90070	5.175000	0.64857	7.711000	0.66806	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.570	0.61304	952	0.10565	Transcription initiation factor Rrn7, Zinc-finger;Transcription initiation factor Rrn7, Zinc-finger	.	.	.	.	.	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	0.02381	1784.98	35	chr2	9845286	.	T	C	1784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.212;DP=848;ExcessHet=0.0000;FS=2.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=-1.475e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/1:48,68:116:99:1799,0,1158	20	0	1	0
chr2	20667365	20667365	-	GGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGC:p.G50_R51insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	2/2:0,0,6,0:6:17:215,215,215,17,18,0,215,215,18,215	3	5	0	10
chr2	20667365	20667365	-	GGCGGCGGCGGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGCGGCGGCGGC:p.G50_R51insGGGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	2/2:0,0,6,0:6:17:215,215,215,17,18,0,215,215,18,215	3	5	0	10
chr2	21015495	21015495	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon22:c.G3383A:p.R1128H,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1506	15	1	0	17	0.00561241	.	.	265379	Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified|APOB-related_disorder|Familial_hypercholesterolemia|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|Primary_familial_dilated_cardiomyopathy	MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374|.|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.399	B	0.045	B	0.000	N	1.000	D	2.125	M	5.65	T	-0.767	T	0.003	T	0.717	3.691	18.75	3.52	1.432	0.128	9.926	0.184	0.0257199592383	0.0032	0.00279553	0.0037	0.0008	0.0032	0.0001	0.0018	0.0041	0	0.0070	0.0037063	573	154602	rs12713843	0.0046	0.0046	0.0046	0.0046	0.0068	0.0045	0.0045	0.0056	0.0055	0.0009	0.0037	0.0001	2.519e-05	0.0023	0.0068	0.0050	0.0050	0.0061	0.0038	0.0038	0.0041	0.0034	0.0079	0.0035	0.0034	0.0059	0.0052	0.0007	0	0.0044	0	0.0004	0.0021	0	0.0059	0.0057	0.0079	0.096	0.31088	T	0.002	0.79402	D	.	.	.	.	.	.	0.000295	0.46274	N	0.096408	0.533726	0.31996	D	.	.	.	5.65	0.00784	T	-1.68	0.40082	N	0.372	0.41360	-0.7674	0.57000	T	0.003	0.01026	T	10	0.007625997	0.00173	T	0.02572	0.48675	D	0.184	0.45763	.	.	0.530852358449	0.52733	0.5349439724085757	0.53419	0.0427700385688	0.04614	0.22615134716	0.01696	T	.	.	.	-0.397544	0.02403	T	-0.337282	0.40654	T	0.0214380577430334	0.00847	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04806	B	.	.	2.995653	0.40013	21.1	0.99908515955343014	0.97875	0.75412	0.36921	D	AEFBHCI	0.230590	0.35395	N	-0.0202030940790056	0.40942	2.440185	0.0445583706668865	0.41809	2.518083	0.991941940083341	0.32664	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	3.52	0.39415	0.144000	0.15956	-0.390000	0.09482	0.599000	0.40250	0.797000	0.29682	0.000000	0.08366	0.999000	0.91618	0.136:0.7906:0.0:0.0735	9.926	0.40661	863	0.32847	.	.	.	.	.	.	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	0.02381	2026.98	34	chr2	21015495	.	C	T	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=851;ExcessHet=0.0000;FS=2.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=2.13;SOR=0.528	GT:AD:DP:GQ:PL	0/1:71,75:146:99:2041,0,1787	20	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.006	B	0.017	B	.	.	0.956	D	0.26	N	-3.53	D	-0.892	T	0.148	T	0.262	1.849	12.14	5.84	2.367	4.223	16.532	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.325	1873.78	24	chr2	23864893	.	T	C	1873.78	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.572e+00;DP=1254;ExcessHet=11.8493;FS=218.613;InbreedingCoeff=-0.4705;MLEAC=13;MLEAF=0.325;MQ=60.00;MQRankSum=0.00;QD=2.15;ReadPosRankSum=0.843;SOR=11.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,19:57:62:.:.:62,0,493	7	0	13	1
chr2	29181751	29181751	G	A	exonic	CLIP4	.	nonsynonymous SNV	CLIP4:NM_001287527:exon16:c.G1976A:p.R659Q	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	P	0.097	B	0.013	N	1.000	D	0.75	N	-0.81	T	-0.812	T	0.200	T	0.244	4.216	21.9	3.55	1.404	6.423	11.743	0.211	0.0577207618076	0.0002	.	0.0002	9.61e-05	0.0005	0	0	0.0002	0	6.056e-05	0.0001488	23	154602	rs140795468	5.883e-05	5.883e-05	5.309e-05	6.463e-05	0.0023	4.876e-05	4.496e-05	0.0013	0.0011	8.961e-05	0.0002	0	0.0001	0	0.0023	4.407e-05	6.624e-05	2.319e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.163	0.23450	T	0.117	0.36365	T	0.524	0.37583	P	0.097	0.30390	B	0.012891	0.29020	N	0.314649	0.98641	0.81001	D	0.84	0.21119	L	-0.81	0.73949	T	-1.75	0.41428	N	0.367	0.40864	-0.8119	0.54435	T	0.200	0.55584	T	9	0.19870049	0.35850	T	0.057721	0.67066	D	0.211	0.50185	.	.	0.776461409521	0.77440	0.5704689860742618	0.56974	0.514435909998	0.49391	0.51497733593	0.40919	T	0.449065	0.79070	T	-0.24702	0.14466	T	-0.290882	0.45682	T	0.0766306488327801	0.09551	T	0.960904	0.85339	D	0.083700605	0.19341	0.089133374	0.20825	0.083700605	0.19340	0.089133374	0.20824	-12.316	0.86356	D	.	.	0.300	0.53001	B	.;.	.;.	4.858363	0.79476	27.1	0.99937954123095907	0.99698	0.96850	0.71278	D	AEFBI	0.470329	0.51634	N	0.059718182546637	0.44590	2.730324	0.197525499550104	0.49713	3.171108	0.205071454601899	0.18171	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.69	3.55	0.39770	6.536000	0.73748	8.466000	0.77258	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0733:0.0:0.8008:0.1259	11.743	0.51070	570	0.70478	CAP Gly-rich domain|CAP Gly-rich domain|CAP Gly-rich domain|CAP Gly-rich domain;CAP Gly-rich domain|CAP Gly-rich domain|CAP Gly-rich domain|CAP Gly-rich 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	0.02381	1960.98	33	chr2	29181751	.	G	A	1960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.045e+00;DP=864;ExcessHet=0.0000;FS=1.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.284;SOR=0.578	GT:AD:DP:GQ:PL	0/1:75,83:158:99:1975,0,1846	20	0	1	0
chr2	30234416	30234416	T	G	exonic	LBH	.	nonsynonymous SNV	LBH:NM_030915:exon2:c.T38G:p.L13R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.952	D	0.000	D	1.000	D	1.7	L	.	.	-0.449	T	0.302	T	0.858	3.705	18.82	4.47	1.649	4.206	11.710	0.371	0.0246585186963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.107e-06	9.579e-06	6.811e-06	1.376e-06	2.988e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	2.988e-05	0	0	0	0	0	4.5e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.76473	D	0.999	0.77913	D	0.952	0.69102	D	0.000381	0.45194	D	0.093670	0.999938	0.81001	D	2.045	0.56016	M	.	.	.	-0.91	0.81350	N	0.9	0.90025	-0.4494	0.70420	T	0.302	0.67279	T	9	0.61214733	0.67504	D	0.024659	0.47647	T	0.371	0.69016	0.508	0.60386	0.101711395817	0.09552	0.828082130339371	0.82766	1.26608907093	0.82163	0.743519306183	0.73490	T	0.025059	0.45522	T	0.345667	0.86215	D	0.25875	0.86032	D	0.922763764858246	0.58307	D	0.909809	0.68064	D	0.5131131	0.67861	0.31296772	0.57296	0.5131131	0.67862	0.31296772	0.57296	-3.744	0.19970	T	.	.	0.158	0.49117	B	.;.;.;.	.;.;.;.	3.743980	0.53625	23.4	0.99725078406947953	0.82336	0.74999	0.36704	D	ALL	0.612026	0.60026	D	0.509662549157966	0.67660	5.111258	0.473515311675174	0.66242	4.92645	1.0	0.98316	0.675385	0.55134	0	0.672317	0.65289	0	0.693117	0.63056	0	0.63947	0.58350	0	.	.	4.47	4.47	0.53770	3.904000	0.56038	4.165000	0.42235	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:0.0:1.0	11.710	0.50885	920	0.19381	.;.;.;.	.	.	.	.	.	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	0.02381	1449.98	37	chr2	30234416	.	T	G	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-01;DP=814;ExcessHet=0.0000;FS=2.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-1.013e+00;SOR=0.964	GT:AD:DP:GQ:PL	0/1:46,62:108:99:1464,0,1055	20	0	1	0
chr2	33280135	33280135	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon15:c.G2111A:p.R704Q	.	.	428	1036	52	6	0	64	0.0299625	.	.	719864	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.059	B	0.019	B	.	.	1.000	D	0.295	N	-2.22	D	-0.498	T	0.311	T	0.289	2.709	15.02	3.73	1.349	2.363	9.817	0.034	.	0.0032	0.00638978	0.0065	0.0005	0.0025	0	0.0018	0.0049	0.0110	0.0247	0.0059637	922	154602	rs61754247	0.0045	0.0045	0.0037	0.0053	0.0251	0.0044	0.0044	0.0242	0.0239	0.0004	0.0026	0.0098	0	0.0024	0.0163	0.0032	0.0048	0.0251	0.0036	0.0036	0.0031	0.0041	0.0228	0.0033	0.0032	0.0194	0.0181	0.0005	0.0055	0.0043	0.0069	0.0004	0.0021	0.0102	0.0041	0.0061	0.0228	0.154	0.31088	T	0.086	0.40909	T	0.059	0.23051	B	0.019	0.18783	B	.	.	.	.	0.823765	0.34814	D	0.12	0.08593	N	-2.22	0.87038	D	-1.72	0.44852	N	0.216	0.30461	-0.4979	0.68725	T	0.311	0.68157	T	9	0.00931707	0.00210	T	.	.	.	0.266	0.57999	.	.	0.147330786459	0.14319	0.3750624688550842	0.37420	0.156418775729	0.17651	0.336470723152	0.15909	T	0.439289	0.78463	T	-0.350134	0.04718	T	-0.256795	0.49144	T	0.0132996338947798	0.00238	T	0.776522	0.40874	T	0.05123657	0.09380	0.08955381	0.20949	0.05123657	0.09380	0.08955381	0.20948	-4.954	0.36336	T	.	.	0.079	0.07460	B	.;.;.;.;.	.;.;.;.;.	3.118524	0.42097	21.5	0.99195457660073694	0.55112	0.83638	0.42742	D	AEFBI	0.184274	0.31160	N	-0.402969708021339	0.25365	1.376381	-0.197852517081355	0.31615	1.790878	0.975626632394486	0.29650	0.706548	0.73137	0	0.610034	0.51514	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.53	3.73	0.41982	2.280000	0.43103	3.427000	0.38290	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.2116:0.0:0.7884:0.0	9.817	0.40028	849	0.35778	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|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	674.98	34	chr2	33280135	.	G	A	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=750;ExcessHet=0.0000;FS=4.183;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-2.630e-01;SOR=1.398	GT:AD:DP:GQ:PL	0/1:23,27:50:99:689,0,548	20	0	1	0
chr2	42280953	42280953	G	C	exonic	EML4	.	nonsynonymous SNV	EML4:NM_001145076:exon6:c.G597C:p.E199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.999	D	0.997	D	0.000	D	1.000	D	1.12	L	1.48	T	-1.050	T	0.110	T	0.716	4.355	22.9	5.24	2.580	2.410	7.144	0.162	0.0100472322683	.	.	1.662e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs769357468	7.559e-06	7.525e-06	5.471e-06	9.668e-06	0.0002	4.06e-06	2.97e-06	0.0001	9.529e-05	0	0.0002	0	0	0	0.0002	0	0	0	6.577e-06	6.569e-06	0	1.347e-05	6.554e-05	0	0	.	.	0	0	6.554e-05	0	0	0	0	0	0	0	0.021	0.50676	D	0.107	0.40110	T	0.999	0.77913	D	0.997	0.86255	D	0.000018	0.62929	D	0.151725	0.999385	0.46865	D	1.56	0.39490	L	1.48	0.31731	T	-1.88	0.43906	N	0.606	0.62696	-1.0497	0.14481	T	0.110	0.39533	T	10	0.40117776	0.55578	T	0.010047	0.26124	T	0.162	0.41843	0.405	0.43738	0.572760530292	0.56943	0.20105874191740117	0.20022	0.271221807874	0.29642	0.749780237675	0.74413	T	0.040995	0.25712	T	-0.184341	0.23093	T	-0.207735	0.53911	T	0.242107507316164	0.22516	T	0.880112	0.59716	D	0.1584379	0.35646	0.14371431	0.34145	0.1584379	0.35645	0.14371431	0.34144	-7.007	0.54085	T	.	.	0.515	0.65274	A	.;.;.	.;.;.	4.368889	0.67248	25.1	0.99869480357417983	0.94726	0.94621	0.61765	D	AEFBI	0.705507	0.66087	D	0.432063393030947	0.63194	4.548426	0.475005137712829	0.66338	4.939115	0.972107929973295	0.29342	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	2.082000	0.41230	5.271000	0.48152	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2101:0.0:0.7899:0.0	7.144	0.24751	848	0.35897	HELP;.;HELP	.	.	.	.	.	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	0.02381	1214.98	33	chr2	42280953	.	G	C	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.031e+00;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-1.019e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1229,0,1327	20	0	1	0
chr2	43697278	43697278	C	T	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon7:c.C610T:p.P204S,	.	.	436	994	83	9	0	101	0.0483485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.004	B	0.005	B	0.000	N	0.986	N	0.805	L	0.9	T	-1.048	T	0.046	T	0.094	2.690	14.96	3.08	1.095	1.613	9.832	0.043	.	0.0061	0.0071885	0.0101	0.0016	0.0022	0.0002	0.0024	0.0091	0.0121	0.0336	0.0095988	1484	154602	rs142153423	0.0081	0.0081	0.0071	0.0090	0.0404	0.0080	0.0079	0.0361	0.0345	0.0017	0.0034	0.0092	0.0001	0.0026	0.0404	0.0068	0.0082	0.0340	0.0060	0.0060	0.0060	0.0060	0.0317	0.0057	0.0056	0.0276	0.0260	0.0019	0.0055	0.0049	0.0101	0.0004	0.0019	0.0340	0.0076	0.0071	0.0317	0.321	0.13522	T	0.36	0.16964	T	0.001	0.07471	B	0.002	0.06944	B	0.000101	0.50451	N	0.136303	0.985952	0.24662	N	0.345	0.11182	N	0.9	0.45248	T	-0.52	0.16187	N	0.044	0.01658	-1.0478	0.15016	T	0.046	0.19559	T	10	0.002683133	0.00041	T	.	.	.	0.043	0.11576	.	.	.	.	0.18599747169315667	0.18517	0.0193558594551	0.01897	0.276209801435	0.06969	T	0.010631	0.09578	T	-0.613942	0.00120	T	-0.629594	0.10446	T	0.00276598705785546	0.00029	T	0.741226	0.36032	T	0.061813172	0.12843	0.067769594	0.14065	0.061813172	0.12843	0.067769594	0.14065	-2.68	0.07136	T	.	.	0.066	0.02145	B	.	.	1.530231	0.19634	14.36	0.99065392673448482	0.51598	0.84387	0.43469	D	AEFI	0.242514	0.36396	N	-0.389099018397365	0.25855	1.406726	-0.214605360810121	0.31010	1.751141	0.00840704204609572	0.11670	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.01	3.08	0.34576	1.804000	0.38510	1.378000	0.26011	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.934000	0.47231	0.0:0.7827:0.1403:0.077	9.832	0.40114	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	789.98	33	chr2	43697278	.	C	T	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.051e+00;DP=760;ExcessHet=0.0000;FS=2.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.624;SOR=0.460	GT:AD:DP:GQ:PL	0/1:33,37:70:99:804,0,819	20	0	1	0
chr2	68158467	68158467	A	G	exonic	PNO1	.	nonsynonymous SNV	PNO1:NM_001329916:exon2:c.A295G:p.I99V	.	.	416	1103	3	0	0	3	0.00135808	.	.	2350159	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.004	B	0.000	N	1.000	D	-0.165	N	0.25	T	-1.066	T	0.070	T	0.201	1.147	9.674	1.5	0.204	2.448	9.138	0.066	0.0076070577317	0.0002	0.000199681	0.0002	0.0002	8.639e-05	0.0005	0	0.0002	0.0011	6.061e-05	0.0001488	23	154602	rs371420658	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	8.947e-05	0	0.0006	0	0.0016	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.084e-05	5.742e-05	7.908e-05	5.993e-05	7.214e-05	0	6.532e-05	0	0.0004	0	0	0.0001	0	0.0002	0.615	0.05388	T	0.783	0.04288	T	0.0	0.02946	B	0.004	0.10090	B	0.000016	0.62929	N	0.180352	0.999866	0.50061	D	0.12	0.08593	N	0.25	0.59449	T	-0.09	0.08340	N	0.166	0.17553	-1.0663	0.10246	T	0.070	0.28642	T	10	0.042579293	0.03022	T	0.007607	0.20192	T	0.066	0.19193	.	.	0.468420198123	0.46471	0.517662783886777	0.51689	0.101963971609	0.11540	0.326930701733	0.14471	T	0.019547	0.15555	T	-0.370099	0.03588	T	-0.460531	0.26542	T	0.0109144320849429	0.00156	T	0.875312	0.58632	D	0.057631608	0.11495	0.053807024	0.09136	0.057631608	0.11495	0.053807024	0.09136	-6.639	0.51350	T	.	.	0.058	0.00705	B	.	.	2.038294	0.25908	16.93	0.88005301001559144	0.17645	0.31866	0.24444	N	AEFGBCI	0.182511	0.30984	N	-0.594302946178142	0.19117	0.9980054	-0.377691627462635	0.25663	1.412716	0.99996186676877	0.48965	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	6.03	1.5	0.22029	2.587000	0.45793	1.999000	0.30113	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.7107:0.0:0.2893:0.0	9.138	0.36047	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	705.98	35	chr2	68158467	.	A	G	705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=761;ExcessHet=0.0000;FS=0.911;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=0.294;SOR=0.837	GT:AD:DP:GQ:PL	0/1:43,28:71:99:720,0,1025	20	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	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.977	D	0.000	N	1.000	D	1.22	L	1.96	T	-1.128	T	0.086	T	0.33	4.739	26.4	3.96	0.915	3.769	11.062	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	.	.	.	.	.	.	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	0.02381	834.98	35	chr2	71149341	.	G	A	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=749;ExcessHet=0.0000;FS=0.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=-1.690e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:29,33:62:99:849,0,612	20	0	1	0
chr2	73080498	73080498	T	-	exonic	RAB11FIP5	.	frameshift deletion	RAB11FIP5:NM_001371272:exon4:c.2734delA:p.R912Dfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	41.21	6	chr2	73080497	.	CT	C	41.21	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.660e-01;DP=117;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0860;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.89;ReadPosRankSum=-1.068e+00;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:54:54,0,166	20	0	1	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,19,27,0,0,0:46:99:1870,1131,1074,763,0,757,1886,1134,804,1921,1886,1134,804,1921,1921,1886,1134,804,1921,1921,1921	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,19,27,0,0,0:46:99:1870,1131,1074,763,0,757,1886,1134,804,1921,1886,1134,804,1921,1921,1886,1134,804,1921,1921,1921	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,19,27,0,0,0:46:99:1870,1131,1074,763,0,757,1886,1134,804,1921,1886,1134,804,1921,1921,1886,1134,804,1921,1921,1921	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/2:0,19,27,0,0,0:46:99:1870,1131,1074,763,0,757,1886,1134,804,1921,1886,1134,804,1921,1921,1886,1134,804,1921,1921,1921	0	4	5	0
chr2	73452942	73452942	C	T	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.C6415T:p.P2139S	Alstrom syndrome, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	1302100	not_provided|Alstrom_syndrome	MedGen:C3661900|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.158	B	0.03	B	0.049	N	1.000	N	0.075	N	2.72	T	-1.013	T	0.023	T	0.236	-2.556	0.003	0.057	-0.016	-1.184	3.738	0.009	0.00287495727606	.	.	8.339e-06	0	0	0	0	1.509e-05	0	0	1.29e-05	2	154602	rs772858451	1.574e-05	1.573e-05	1.362e-05	1.789e-05	2.238e-05	1.048e-05	8.76e-06	1.093e-05	8.81e-06	0	2.238e-05	0	0	0	0	1.709e-05	3.313e-05	1.16e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	0.676	0.06186	T	.	.	.	.	.	.	0.049171	0.23185	N	0.315407	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.108	0.10198	-1.0129	0.26007	T	0.023	0.09604	T	10	0.047561944	0.04090	T	0.002875	0.06044	T	.	.	.	.	0.0806252709748	0.07271	0.04868629426502791	0.04811	.	.	0.265956878662	0.05621	T	0.024549	0.18527	T	-0.206418	0.19887	T	-0.518795	0.20416	T	0.0216582990266962	0.00871	T	0.448455	0.12604	T	0.022819402	0.00972	0.04038406	0.04352	0.022819402	0.00972	0.04038406	0.04352	-1.649	0.02099	T	0.4360622876528141	0.52238	0.104	0.18787	B	.;.;.	.;.;.	-1.141304	0.00593	0.015	0.53786605201482485	0.05008	0.02388	0.06778	N	AEFGBI	0.035811	0.04669	N	-1.29151478530522	0.03776	0.1693139	-1.31167756287892	0.04279	0.2014598	0.885220534703619	0.25713	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	3.99	0.057	0.13636	-1.125000	0.03368	-1.000000	0.06649	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.0:0.4934:0.1859:0.3207	3.738	0.08045	493	0.76500	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1838.98	35	chr2	73452942	.	C	T	1838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=1672;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-1.240e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:68,68:136:99:1853,0,1759	20	0	1	0
chr2	79027903	79027903	G	A	exonic	REG3G	.	nonsynonymous SNV	REG3G:NM_001270040:exon4:c.G292A:p.G98S	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.825	P	0.725	P	0.002	N	1.000	N	1.75	L	2.23	T	-1.105	T	0.070	T	0.143	3.185	16.66	2.9	1.328	1.661	5.986	0.036	0.00605639622186	0.0008	0.000998403	0.0009	0.0002	0.0003	0	0.0012	0.0012	0.0033	0.0012	0.0009508	147	154602	rs149243674	0.0012	0.0012	0.0012	0.0012	0.0013	0.0012	0.0012	0.0013	0.0013	0.0001	0.0003	7.653e-05	0	0.0020	0.0009	0.0013	0.0012	0.0011	0.0008	0.0008	0.0007	0.0008	0.0012	0.0006	0.0006	0.0010	0.0009	9.633e-05	0	0.0005	0	0	0.0015	0	0.0012	0.0014	0.0008	0.014	0.53172	D	0.084	0.45530	T	0.644	0.40509	P	0.596	0.50617	P	0.002139	0.37183	N	0.122449	1	0.08975	N	2.55	0.74443	M	2.23	0.19311	T	-4.92	0.83224	D	0.315	0.38027	-1.1054	0.03497	T	0.070	0.28577	T	10	0.022979647	0.00588	T	0.006056	0.15816	T	0.036	0.09122	.	.	0.389750110748	0.38591	0.2531217076038667	0.25226	0.0783650798132	0.08816	0.416141748428	0.27305	T	0.026269	0.19473	T	-0.554084	0.00275	T	-0.598759	0.12915	T	0.0881015911426633	0.10990	T	0.758424	0.38228	T	0.21697932	0.44170	0.28478312	0.54478	0.21697932	0.44170	0.28478312	0.54477	-5.01	0.36948	T	.	.	0.246	0.49098	B	.;.;.	.;.;.	2.262385	0.28910	17.95	0.99003895905632622	0.50210	0.07146	0.13171	N	AEFI	0.121472	0.23615	N	-0.19011587455927	0.33546	1.904327	-0.337278258794687	0.26905	1.489242	4.73482427790219E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.73	2.9	0.32809	1.157000	0.31335	0.126000	0.14982	0.676000	0.76740	0.021000	0.19753	0.000000	0.08366	0.011000	0.09372	0.2297:0.0:0.7703:0.0	5.986	0.18666	979	0.04160	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like;.	.	.	.	.	.	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	0.02381	2117.98	35	chr2	79027903	.	G	A	2117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.851;DP=870;ExcessHet=0.0000;FS=1.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-6.300e-02;SOR=0.580	GT:AD:DP:GQ:PL	0/1:83,88:171:99:2132,0,1822	20	0	1	0
chr2	85327310	85327310	C	T	exonic	TGOLN2	.	nonsynonymous SNV	TGOLN2:NM_001206841:exon2:c.G422A:p.G141D	.	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	1.0	D	0.999	D	.	.	0.999	N	1.845	L	2.85	T	-1.070	T	0.024	T	0.08	1.953	12.49	-2.69	-1.334	-4.132	6.667	0.029	.	0.0087	0.00499201	0.0109	0.0012	0.0037	0	0.0426	0.0133	0.0122	0.0047	0.0096377	1490	154602	rs112065068	0.0095	0.0095	0.0096	0.0095	0.0092	0.0094	0.0093	0.0090	0.0090	0.0011	0.0044	0.0119	0	0.0415	0.0050	0.0092	0.0097	0.0042	0.0089	0.0090	0.0082	0.0097	0.0102	0.0085	0.0084	0.0096	0.0094	0.0014	0.0198	0.0067	0.0116	0	0.0379	0	0.0102	0.0118	0.0031	0.132	0.48642	T	0.319	0.21343	T	0.05	0.90584	B	0.012	0.92359	B	.	.	.	.	1	0.21926	N	1.7	0.43825	L	2.79	0.11407	T	0.06	0.29323	N	0.034	0.08227	-1.0703	0.09348	T	0.024	0.10148	T	9	0.0029195845	0.00047	T	.	.	.	0.029	0.06676	.	.	.	.	0.01608159370969993	0.01564	.	.	0.272554308176	0.06476	T	0.016856	0.13851	T	-0.672882	0.00053	T	-0.727649	0.04434	T	0.00880947896720428	0.00109	T	0.410359	0.12582	T	0.04474191	0.07206	0.08999692	0.21079	0.04474191	0.07206	0.08999692	0.21079	-6.693	0.51788	T	.	.	0.106	0.27762	B	.;.;.;.;.;.	.;.;.;.;.;.	0.006282	0.04325	1.097	0.9727361721909682	0.33149	0.00306	0.01624	N	AEFDGBCIJ	0.030488	0.03080	N	-1.31715321820235	0.03478	0.155465	-1.53042365155735	0.02114	0.09672675	0.99999991738194	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	1.34	-2.69	0.05668	-4.112000	0.00331	-1.227000	0.05970	-0.356000	0.05535	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.363:0.0:0.637	6.667	0.22239	894	0.26265	.;.;.;.;.;.	.	.	.	.	rs112065068	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	7440.98	35	chr2	85327310	.	C	T	7440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=1620;ExcessHet=0.0000;FS=1.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-1.292e+00;SOR=0.559	GT:AD:DP:GQ:PL	0/1:296,280:576:99:7455,0,7872	20	0	1	0
chr2	86031379	86031379	G	A	exonic	POLR1A	.	nonsynonymous SNV	POLR1A:NM_015425:exon30:c.C4529T:p.P1510L,	Acrofacial dysostosis, Cincinnati type, Autosomal dominant	.	417	1104	1	0	0	1	0.000452694	.	.	1906819	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.198	B	0.039	B	0.274	N	1.000	D	1.715	L	-0.18	T	-0.858	T	0.202	T	0.136	1.668	11.54	5.11	2.534	3.858	14.976	0.124	0.0507217744073	.	.	8.735e-05	0	8.67e-05	0	0	9.223e-05	0	0.0002	8.41e-05	13	154602	rs778089945	0.0001	0.0001	8.897e-05	0.0001	0.0007	9.333e-05	8.794e-05	0.0003	0.0003	9.066e-05	2.286e-05	0.0005	0	0	0.0007	8.323e-05	6.688e-05	0.0004	7.227e-05	7.879e-05	8.991e-05	5.38e-05	0.0001	3.971e-05	3.127e-05	4.765e-05	3.339e-05	0	0	0	0.0012	0	0	0	0.0001	0	0	0.327	0.13262	T	0.307	0.19908	T	0.198	0.29589	B	0.039	0.23607	B	0.273557	0.15081	N	0.682462	0.999998	0.58761	D	1.11	0.28643	L	-0.18	0.65747	T	-1.76	0.41618	N	0.214	0.23884	-0.8583	0.51384	T	0.202	0.55891	T	10	0.06548041	0.08841	T	0.050722	0.64362	D	0.124	0.34239	0.492	0.57890	0.147330786459	0.14319	0.36605791992435405	0.36519	0.326789810459	0.34819	0.279242873192	0.07386	T	0.322327	0.69334	T	-0.37998	0.03117	T	-0.471212	0.25385	T	0.0522831752896309	0.05896	T	0.382862	0.09330	T	0.021899236	0.00818	0.035605993	0.02844	0.021899236	0.00818	0.035605993	0.02843	-6.001	0.46288	T	0.35247375624515154	0.44958	0.099	0.16626	B	.	.	3.151862	0.42666	21.6	0.96293990832261311	0.29325	0.73873	0.36133	D	AEFDGBI	0.196358	0.32335	N	-0.269766113742798	0.30321	1.689609	-0.226508760643683	0.30589	1.723672	0.999996927510317	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	3.086000	0.49857	5.088000	0.47328	-0.153000	0.12021	0.166000	0.23880	0.978000	0.30204	0.010000	0.09038	0.0:0.1433:0.8567:0.0	14.976	0.70926	707	0.57054	RNA polymerase Rpb1, domain 5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1473.98	34	chr2	86031379	.	G	A	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=837;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-9.000e-03;SOR=0.598	GT:AD:DP:GQ:PL	0/1:57,56:113:99:1488,0,1331	20	0	1	0
chr2	86042043	86042043	C	T	exonic	POLR1A	.	nonsynonymous SNV	POLR1A:NM_015425:exon24:c.G3418A:p.A1140T,	Acrofacial dysostosis, Cincinnati type, Autosomal dominant	.	428	1091	3	0	0	3	0.001373	.	.	1504114	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.036	B	0.038	B	0.029	N	1.000	N	0.275	N	-0.25	T	-1.062	T	0.116	T	0.122	2.207	13.34	3.41	1.260	0.384	2.977	0.026	0.0121659232164	.	.	0.0002	0	0.0002	0	0	0.0003	0	0.0004	0.0002199	34	154602	rs200880797	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	5.977e-05	0.0002	0.0005	0	0	0.0007	0.0004	0.0004	0.0006	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.234e-05	0.0001	9.898e-05	7.22e-05	0	6.538e-05	0.0012	0	0	0	0.0002	0	0.0004	0.351	0.16958	T	0.555	0.09267	T	0.036	0.20732	B	0.026	0.20792	B	0.029484	0.25446	N	0.416663	1	0.08975	N	0.43	0.12624	N	-0.25	0.67011	T	0.0	0.08971	N	0.226	0.27316	-1.0617	0.11336	T	0.116	0.40942	T	10	0.030884564	0.01218	T	0.012166	0.30502	T	0.026	0.05648	.	.	0.259504319725	0.25562	0.3126741880935471	0.31180	0.460885641291	0.45640	0.292541980743	0.09293	T	0.122511	0.52862	T	-0.422845	0.01641	T	-0.495732	0.22791	T	0.0182422354778709	0.00544	T	0.781822	0.43907	T	0.027571253	0.01969	0.040521067	0.04399	0.027571253	0.01969	0.040521067	0.04399	-4.65	0.32794	T	0.22541828340894435	0.30455	0.073	0.05404	B	.;.	.;.	2.090129	0.26587	17.17	0.98203101470286402	0.39140	0.15331	0.18859	N	AEFBCI	0.063253	0.12212	N	-0.724241420062017	0.15341	0.7723271	-0.636047446986221	0.18569	0.9925687	0.870258998520418	0.25401	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	3.41	0.38145	0.391000	0.20511	2.808000	0.34891	0.599000	0.40250	0.009000	0.18154	0.995000	0.32472	0.731000	0.35132	0.2793:0.4586:0.1568:0.1053	2.977	0.05580	652	0.62785	RNA polymerase Rpb1, domain 5;RNA polymerase Rpb1, domain 5	.	.	.	.	.	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	0.02381	884.98	34	chr2	86042043	.	C	T	884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.096;DP=770;ExcessHet=0.0000;FS=2.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=1.53;SOR=1.041	GT:AD:DP:GQ:PL	0/1:32,36:68:99:899,0,739	20	0	1	0
chr2	86604628	86604628	G	C	exonic	RNF103	.	nonsynonymous SNV	RNF103:NM_005667:exon4:c.C1273G:p.L425V	.	.	433	1081	8	0	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.978	D	0.000	D	1.000	D	1.935	M	0.36	T	-0.673	T	0.167	T	0.33	2.369	13.88	3.78	0.723	4.540	11.331	0.133	.	0.0031	0.00279553	0.0028	0.0012	0.0029	0	0.0015	0.0042	0.0022	0.0003	0.0029172	451	154602	rs140169526	0.0039	0.0039	0.0039	0.0039	0.0049	0.0038	0.0038	0.0042	0.0042	0.0006	0.0036	0.0134	0	0.0012	0.0049	0.0043	0.0044	0.0006	0.0035	0.0035	0.0041	0.0029	0.0077	0.0033	0.0032	0.0065	0.0061	0.0014	0	0.0077	0.0153	0	0.0007	0	0.0040	0.0104	0.0006	0.008	0.58626	D	0.031	0.53788	D	0.997	0.70673	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	0.36	0.57880	T	-0.73	0.20576	N	0.604	0.62188	-0.6730	0.61693	T	0.167	0.50567	T	10	0.009611815	0.00216	T	.	.	.	0.133	0.36157	.	.	0.300371490279	0.29641	0.6879820843248363	0.68738	0.519394606858	0.49764	0.70407474041	0.67733	T	0.176542	0.52653	T	-0.375493	0.03325	T	-0.310641	0.43590	T	0.0227191877698262	0.00991	T	0.928407	0.73561	D	0.20435804	0.42543	0.22400042	0.47298	0.20435804	0.42543	0.22400042	0.47297	-4.135	0.25804	T	.	.	0.165	0.36335	B	.	.	3.939759	0.57647	23.9	0.99196696040998744	0.55142	0.96751	0.70744	D	AEFBI	0.644382	0.62065	D	0.507645613995465	0.67541	5.095363	0.465866344714574	0.65742	4.862403	0.219388842732712	0.18337	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.59	3.78	0.42629	4.647000	0.61115	8.742000	0.78205	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0686:0.1272:0.8043:0.0	11.331	0.48714	603	0.67726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1748.98	34	chr2	86604628	.	G	C	1748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.303;DP=838;ExcessHet=0.0000;FS=1.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-4.510e-01;SOR=0.856	GT:AD:DP:GQ:PL	0/1:72,76:148:99:1763,0,1646	20	0	1	0
chr2	94875721	94875723	GCC	-	exonic	TEKT4	.	nonframeshift deletion	TEKT4:NM_001286559:exon5:c.524_526del:p.R176del	.	.	429	966	127	0	0	127	0.0616804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	204.3	36	chr2	94875720	.	TGCC	T	204.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.285e+00;DP=1639;ExcessHet=0.0000;FS=6.363;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=58.43;MQRankSum=-1.084e+01;QD=1.67;ReadPosRankSum=1.49;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,13:122:99:0|1:94875720_TGCC_T:218,0,4517:94875720	19	0	1	1
chr2	94875726	94875726	-	GCA	exonic	TEKT4	.	nonframeshift insertion	TEKT4:NM_001286559:exon5:c.529_530insGCA:p.D177delinsGN	.	.	431	962	129	0	0	129	0.0628349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	208.06	36	chr2	94875726	.	G	GGCA	208.06	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.371e+00;DP=1576;ExcessHet=0.0000;FS=6.510;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.028;MQ=58.44;MQRankSum=-1.080e+01;QD=1.72;ReadPosRankSum=1.23;SOR=0.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,13:121:99:0|1:94875720_TGCC_T:221,0,4455:94875720	17	0	1	3
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	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	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,17:248:19:0|1:94876587_C_A:19,0,9606:94876587	6	0	15	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,54:339:99:0|1:94876587_C_A:1410,0,11805:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	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	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,71:375:99:0|1:94876587_C_A:2046,0,12510:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,80:424:99:0|1:94876671_A_G:2324,0,13937:94876671	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	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	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,81:428:99:0|1:94876671_A_G:2337,0,14032:94876671	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	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	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:352,67:419:99:.:.:884,0,9094	4	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	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	.	.	.	.	.	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	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:167,42:209:99:.:.:835,0,4476	0	0	21	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	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:201,36:237:99:.:.:466,0,5798	6	0	15	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	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	.	.	.	.	.	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	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:204,115:319:99:2431,0,5434	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	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	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	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:208,74:282:99:.:.:1621,0,5697	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	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	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	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:218,64:282:99:.:.:1279,0,6054	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	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	.	.	.	.	.	.	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	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,9:60:99:.:.:204,0,2107	7	0	14	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,35:126:99:0|1:95859969_A_AT:1189,0,3655:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.053	B	0.021	B	.	.	0.994	N	-1.7	N	2.42	T	-0.981	T	0.008	T	0.245	-3.330	0.001	-3.7	-1.374	-0.833	3.712	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	.	.	.	.	.	.	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	0.4762	28168.43	155	chr2	95859970	.	G	T	28168.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.065;DP=3274;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.99;MQRankSum=-9.404e+00;QD=8.80;ReadPosRankSum=0.078;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,35:127:99:0|1:95859969_A_AT:1186,0,3689:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.055	B	0.007	B	.	.	1.000	N	-1.355	N	2.42	T	-0.947	T	0.010	T	0.097	-0.493	1.736	0.634	0.138	0.540	5.605	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	.	.	.	.	.	.	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	0.4762	27722.43	155	chr2	95859975	.	C	T	27722.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.800e-02;DP=3242;ExcessHet=43.6797;FS=2.825;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.484e+00;QD=8.72;ReadPosRankSum=-1.190e-01;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,34:125:99:0|1:95859969_A_AT:1154,0,3671:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.618	P	0.296	B	.	.	1.000	P	0.345	N	2.35	T	-1.040	T	0.022	T	0.211	-0.948	0.346	1.85	1.110	0.027	3.593	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	.	.	.	.	.	.	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	0.4762	24477.43	159	chr2	95859988	.	T	C	24477.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.265;DP=3203;ExcessHet=43.6797;FS=2.880;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.88;MQRankSum=-9.614e+00;QD=7.83;ReadPosRankSum=-7.870e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:90,29:119:99:927,0,2266	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.898	P	0.775	P	.	.	1.000	P	1.965	M	2.2	T	-0.998	T	0.066	T	0.49	0.033	4.184	-0.873	-0.207	1.019	2.065	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	.	.	.	.	.	.	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	0.4762	17994.43	154	chr2	95860002	.	T	A	17994.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.989;DP=3061;ExcessHet=43.6797;FS=3.053;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.84;MQRankSum=-9.029e+00;QD=6.03;ReadPosRankSum=-1.082e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,30:115:99:0|1:95860002_T_A:984,0,3450:95860002	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	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	.	.	.	.	.	.	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	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,27:112:99:0|1:95860002_T_A:878,0,3446:95860002	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,23:103:99:0|1:95860020_G_A:725,0,3286:95860020	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	15.302	49	-0.698	-0.207	0.666	5.748	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	17446.43	144	chr2	95860023	.	A	C	17446.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.97;DP=2699;ExcessHet=43.6797;FS=5.438;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.71;MQRankSum=-8.809e+00;QD=6.58;ReadPosRankSum=-1.356e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,23:103:99:0|1:95860020_G_A:725,0,3286:95860020	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	P	-1.59	N	2.33	T	-0.964	T	0.008	T	0.055	-3.899	0.001	-2.51	-0.641	0.852	0.839	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	.	.	.	.	.	.	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	0.4762	11608.43	114	chr2	95860046	.	C	A	11608.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.094;DP=2166;ExcessHet=43.6797;FS=7.428;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.39;MQRankSum=-9.225e+00;QD=5.60;ReadPosRankSum=-1.053e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:71,20:91:99:627,0,1889	1	0	20	0
chr2	95891674	95891674	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.A3943T:p.T1315S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	.	.	.	.	.	.	1.000	N	.	.	-0.93	T	-1.026	T	0.121	T	0.027	-3.358	0.001	-1.14	-1.678	-0.203	.	0.098	0.00291427588903	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260919298	2.841e-06	0.0002	1.405e-06	4.309e-06	.	6.7e-07	4.5e-07	.	.	0	0	0	0	8.162e-05	0	0	0	0	6.687e-06	0.0024	0	1.371e-05	1.486e-05	0	0	.	.	0	0	0	0	0	0	0	1.486e-05	0	0	0.492	0.07944	T	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.93	0.75215	T	-0.29	0.11728	N	0.043	0.02861	-1.0260	0.21756	T	0.121	0.42208	T	5	0.04610786	0.03760	T	0.002914	0.06162	T	0.098	0.28162	0.139	0.04277	0.18995819373	0.18626	3.2899001332843344E-4	0.00029	.	.	.	.	.	0.001442	0.00900	T	-0.278035	0.10877	T	-0.637155	0.09879	T	0.0239688079694826	0.01142	T	0.163384	0.02201	T	0.05901639	0.11943	0.0651601	0.13168	0.05901639	0.11943	0.0651601	0.13167	-2.145	0.24445	T	.	.	0.143	0.31355	B	.;.	.;.	-1.129647	0.00606	0.016	0.031514088493064071	0.00000	0.00007	0.00120	N	AEFBI	0.015590	0.00305	N	-1.46910891231834	0.02071	0.09107147	-1.69214697447218	0.01172	0.05275655	6.86907755470711E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-1.14	0.09241	-0.118000	0.10665	-0.182000	0.11122	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	53.11	34	chr2	95891674	.	T	A	53.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.521;DP=972;ExcessHet=0.1072;FS=6.096;InbreedingCoeff=-0.0502;MLEAC=2;MLEAF=0.048;MQ=58.57;MQRankSum=-8.778e+00;QD=0.33;ReadPosRankSum=-1.944e+00;SOR=1.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,10:94:46:0|1:95891667_C_G:46,0,3368:95891667	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	19293.39	162	chr2	95927222	.	G	GAT	19293.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=2.91;DP=3244;ExcessHet=43.6797;FS=41.935;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.80;MQRankSum=-9.777e+00;QD=6.04;ReadPosRankSum=-5.428e+00;SOR=4.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,27:168:99:0|1:95927222_G_GAT:709,0,5839:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28849.39	181	chr2	95927226	.	GTT	G	28849.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.24;DP=3663;ExcessHet=43.6797;FS=12.728;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.66;MQRankSum=-1.068e+01;QD=7.97;ReadPosRankSum=-5.292e+00;SOR=1.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,35:193:99:0|1:95927222_G_GAT:994,0,6529:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	2.045	M	-1.11	T	-0.526	T	0.427	T	0.17	0.495	6.683	0.578	0.482	1.675	.	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	.;.	.	.	.	.	.	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	0.4762	39187.43	200	chr2	95927234	.	T	C	39187.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.176e+00;DP=4058;ExcessHet=43.6797;FS=7.313;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.37;MQRankSum=-1.145e+01;QD=9.76;ReadPosRankSum=-5.766e+00;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,42:204:99:0|1:95927222_G_GAT:1276,0,6676:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	.	.	.	.	.	.	1.000	N	2.175	M	-1.08	T	-0.803	T	0.326	T	0.253	0.721	7.838	-1.16	-0.580	0.588	.	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	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	71909.43	290	chr2	95927252	.	A	G	71909.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.880e-01;DP=5309;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.50;MQRankSum=-1.377e+01;QD=13.66;ReadPosRankSum=-5.061e+00;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,71:269:99:0|1:95927222_G_GAT:2385,0,8100:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	2.175	M	-1.1	T	-0.487	T	0.446	T	0.443	1.148	9.675	0.578	0.573	0.559	.	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	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	99348.43	354	chr2	95927268	.	C	A	99348.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.669e+00;DP=6340;ExcessHet=43.6797;FS=3.258;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.67;MQRankSum=-1.545e+01;QD=15.78;ReadPosRankSum=-3.350e+00;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,102:320:99:0|1:95927222_G_GAT:3505,0,8728:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	P	2.135	M	-1.07	T	-0.030	T	0.463	T	0.042	2.046	12.80	0.578	0.573	1.620	.	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	100976.43	370	chr2	95927277	.	C	T	100976.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-6.195e+00;DP=6692;ExcessHet=43.6797;FS=2.488;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.63;MQRankSum=-1.581e+01;QD=15.46;ReadPosRankSum=-7.660e-01;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,106:332:99:0|1:95927222_G_GAT:3568,0,8842:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	P	.	.	-1.41	T	-0.324	T	0.401	T	0.195	1.779	11.91	0.871	0.621	1.851	3.983	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	0.4762	41574.43	202	chr2	95929092	.	T	C	41574.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.846;DP=3927;ExcessHet=43.6797;FS=3.785;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.18;MQRankSum=-9.680e+00;QD=10.76;ReadPosRankSum=-3.033e+00;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,30:175:99:0|1:95929092_T_C:823,0,5893:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	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	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,40:205:99:0|1:95929092_T_C:1183,0,6803:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	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	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,56:242:99:0|1:95929092_T_C:1792,0,7642:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,58:252:99:0|1:95929092_T_C:1851,0,7971:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,58:255:99:0|1:95929092_T_C:1842,0,8082:95929092	1	0	20	0
chr2	96327876	96327876	G	C	exonic	ITPRIPL1	.	nonsynonymous SNV	ITPRIPL1:NM_178495:exon1:c.G1269C:p.E423D	.	.	430	1086	6	0	0	6	0.00275482	.	.	2428409	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.003	B	0.009	B	0.479	N	0.971	N	0.695	N	2.15	T	-1.037	T	0.051	T	0.204	1.204	9.891	2.63	0.848	0.633	2.510	0.017	0.00261343413247	.	0.000199681	0.0002	0	8.646e-05	0	0	0.0001	0	0.0007	0.0001488	23	154602	rs568942457	9.303e-05	9.303e-05	7.079e-05	0.0001	0.0012	8.025e-05	7.518e-05	0.0006	0.0004	2.987e-05	0.0001	0.0004	0	0	0.0012	5.486e-05	0.0002	0.0005	8.54e-05	8.53e-05	0.0001	6.721e-05	0.0008	4.956e-05	3.962e-05	0.0003	0.0002	7.223e-05	0	0	0.0006	0.0002	0	0	4.411e-05	0	0.0008	0.089	0.34621	T	0.0	0.92824	D	0.003	0.11197	B	0.009	0.14300	B	0.478900	0.12189	N	0.707310	0.970545	0.25699	N	1.385	0.34509	L	2.15	0.19311	T	-1.49	0.36385	N	0.16	0.16725	-1.0366	0.18357	T	0.051	0.21883	T	10	0.038013935	0.02192	T	0.002613	0.05292	T	0.021	0.04004	0.364	0.37036	0.101711395817	0.09552	0.10177298488246132	0.10108	0.13540468119	0.15262	0.47032803297	0.34725	T	0.012845	0.11217	T	-0.467842	0.00877	T	-0.560368	0.16343	T	0.0269187825070944	0.01533	T	0.552645	0.19087	T	0.1238982	0.29084	0.08525268	0.19670	0.1238982	0.29083	0.08525268	0.19669	-3.292	0.14391	T	.	.	0.127	0.29697	B	.;.;.	.;.;.	1.619218	0.20681	14.86	0.98525038853534375	0.42520	0.75382	0.36906	D	AEFBI	0.201364	0.32802	N	-0.202925958877422	0.33014	1.868295	-0.127613778699174	0.34281	1.970198	0.995202358391409	0.34004	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.5	2.63	0.30420	0.797000	0.26660	3.027000	0.36026	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.1265:0.1368:0.4551:0.2815	2.510	0.04371	289	0.88525	.;Mab-21 domain|Mab-21 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2875.98	35	chr2	96327876	.	G	C	2875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.390e-01;DP=1020;ExcessHet=0.0000;FS=3.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-1.809e+00;SOR=0.841	GT:AD:DP:GQ:PL	0/1:92,105:197:99:2890,0,2574	20	0	1	0
chr2	96877946	96877946	G	T	exonic	FAM178B	.	nonsynonymous SNV	FAM178B:NM_001172667:exon4:c.C328A:p.L110M	.	.	431	1087	4	0	0	4	0.00183655	.	.	2373938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	.	.	0.950	N	2.36	M	-0.09	T	-0.456	T	0.461	T	0.49	3.391	17.44	4.33	1.195	1.346	9.749	0.290	0.120034292365	.	0.000199681	0.0001	0	0	0	0	3.059e-05	0	0.0007	9.06e-05	14	154602	rs552281954	5.474e-05	5.472e-05	2.995e-05	7.977e-05	0.0009	4.478e-05	4.148e-05	0.0006	0.0005	0	0	0	0	0	0.0009	7.194e-06	8.28e-05	0.0007	3.281e-05	3.28e-05	5.137e-05	1.342e-05	0.0004	1.26e-05	7.97e-06	7.282e-05	3.026e-05	0	0	0	0	0.0002	0	0	2.939e-05	0	0.0004	0.005	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.950386	0.26506	N	.	.	.	-0.09	0.67543	T	-1.87	0.43717	N	0.491	0.52475	-0.4560	0.70201	T	0.461	0.79072	T	9	0.13193017	0.25110	T	0.120034	0.80048	D	0.290	0.60924	.	.	0.507748507896	0.50414	0.33121652795149553	0.33034	0.385509509165	0.39847	0.422740221024	0.28214	T	.	.	.	-0.251698	0.13891	T	-0.21231	0.53473	T	0.398106604814529	0.28871	T	0.687731	0.30552	T	.	.	.	.	.	.	.	.	-6.228	0.48149	T	.	.	0.139	0.34339	B	.;.	.;.	2.895563	0.38363	20.7	0.99563909022103358	0.71953	0.72560	0.35511	D	AEFDBHCIJ	0.441240	0.49947	N	0.324816931444091	0.57425	3.90975	0.268048651721663	0.53683	3.53606	0.999999004128913	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.2	4.33	0.51083	1.463000	0.34887	3.895000	0.40316	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0962:0.0:0.9038:0.0	9.749	0.39633	114	0.95383	.;.	.	.	.	.	.	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	0.02381	1045.98	35	chr2	96877946	.	G	T	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.185e+00;DP=798;ExcessHet=0.0000;FS=0.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=-1.337e+00;SOR=0.821	GT:AD:DP:GQ:PL	0/1:62,47:109:99:1060,0,1583	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8326.47	128	chr2	97185336	.	GC	G	8326.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-1.019e+00;DP=2996;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.34;MQRankSum=-5.879e+00;QD=3.14;ReadPosRankSum=0.218;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,14:157:99:0|1:97185336_GC_G:157,0,5942:97185336	3	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.980	20.4	-2.12	-0.664	0.022	1.483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	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	0.4286	8253.51	130	chr2	97185340	.	C	G	8253.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-6.260e-01;DP=3017;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.09;MQRankSum=-5.804e+00;QD=3.07;ReadPosRankSum=0.809;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,14:157:99:0|1:97185336_GC_G:157,0,5942:97185336	3	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8208.47	129	chr2	97185341	.	A	AG	8208.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-5.080e-01;DP=3032;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.00;MQRankSum=-5.688e+00;QD=3.04;ReadPosRankSum=0.926;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,14:158:99:0|1:97185336_GC_G:154,0,6004:97185336	3	0	18	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8186.47	138	chr2	97185345	.	GTAAT	G	8186.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.550e-01;DP=3160;ExcessHet=30.0624;FS=4.006;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.27;MQRankSum=-5.168e+00;QD=2.89;ReadPosRankSum=1.92;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,16:165:99:0|1:97185336_GC_G:183,0,6205:97185336	3	0	18	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	.;.;.	.	.	.	.	.	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	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,76:168:99:0|1:97513219_T_C:2914,0,3634:97513219	0	0	20	1
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	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	72691.47	317	chr2	97513227	.	T	C	72691.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.090e-01;DP=4346;ExcessHet=51.1880;FS=3.354;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.18;MQRankSum=-4.153e+00;QD=17.02;ReadPosRankSum=0.711;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,82:175:99:0|1:97513219_T_C:3163,0,3658:97513219	0	0	20	1
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	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	88962.47	372	chr2	97513244	.	G	T	88962.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.332e+00;DP=4960;ExcessHet=51.1880;FS=2.480;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.54;MQRankSum=-4.334e+00;QD=17.98;ReadPosRankSum=0.505;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,106:211:99:0|1:97513244_G_T:4135,0,4085:97513244	0	0	20	1
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	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	94248.47	391	chr2	97513253	.	A	G	94248.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.477e+00;DP=5204;ExcessHet=51.1880;FS=3.201;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.63;MQRankSum=-4.517e+00;QD=18.31;ReadPosRankSum=-7.500e-02;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,108:222:99:0|1:97513244_G_T:4192,0,4396:97513244	0	0	20	1
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	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	94578.47	389	chr2	97513254	.	C	T	94578.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.107e+00;DP=5218;ExcessHet=51.1880;FS=3.233;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.64;MQRankSum=-4.596e+00;QD=18.37;ReadPosRankSum=8.000e-03;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,108:221:99:0|1:97513244_G_T:4195,0,4359:97513244	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	103442.47	407	chr2	97513268	.	C	T	103442.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-9.430e-01;DP=5451;ExcessHet=51.1880;FS=3.211;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.99;MQRankSum=-5.011e+00;QD=19.09;ReadPosRankSum=-6.100e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,118:244:99:0|1:97513268_C_T:4498,0,4936:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,120:248:99:0|1:97513268_C_T:4555,0,5014:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,116:246:99:.:.:4577,0,5011	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,126:253:99:.:.:4706,0,4873	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:90,61:151:99:1228,0,2130	0	0	20	1
chr2	98211985	98211985	A	C	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon7:c.A764C:p.E255A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.965	D	0.647	P	0.022	N	0.846	N	0.69	N	3.09	T	-1.040	T	0.084	T	0.351	1.585	11.25	4.38	2.272	3.031	9.944	0.122	0.00792282448057	.	.	8.281e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs749688577	6.841e-06	6.84e-06	8.167e-06	5.5e-06	8.993e-06	3.46e-06	2.52e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.355	0.12109	T	0.134	0.34241	T	0.163	0.28433	B	0.111	0.31539	B	0.021933	0.26734	N	0.389844	0.846236	0.28561	N	1.36	0.34107	L	3.09	0.08371	T	-3.29	0.65742	D	0.532	0.56058	-1.0395	0.17465	T	0.084	0.32900	T	10	0.23802751	0.40915	T	0.007923	0.21007	T	0.122	0.33800	0.482	0.56302	0.245101548738	0.24120	0.4016992162050483	0.40085	0.11145778374	0.12582	0.46945348382	0.34605	T	0.019176	0.15329	T	-0.233524	0.16186	T	-0.509572	0.21359	T	0.256596714258194	0.23166	T	0.823018	0.48339	T	0.18281245	0.39518	0.1913099	0.42583	0.18281245	0.39518	0.1913099	0.42582	-6.84	0.52856	T	.	.	0.196	0.41768	B	.	.	2.732059	0.35759	19.98	0.97486868502096946	0.34219	0.84942	0.44038	D	AEFBI	0.427832	0.49161	N	0.0252121679103654	0.43003	2.601921	0.0919391673383232	0.44143	2.701741	4.77207609733419E-4	0.07095	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.55	4.38	0.52019	2.703000	0.46778	4.923000	0.46060	0.680000	0.82399	1.000000	0.71638	1.000000	0.68203	0.600000	0.31387	0.9172:0.0:0.0828:0.0	9.944	0.40769	450	0.79359	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	0.02381	681.98	36	chr2	98211985	.	A	C	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.490;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.58;ReadPosRankSum=-8.110e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:59,31:90:99:696,0,1559	20	0	1	0
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,11,0:11:32:242,32,0,242,32,242	3	9	6	2
chr2	106468221	106468221	C	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon1:c.G68C:p.R23P,	.	.	5	1502	15	0	0	15	0.00496853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.989	D	0.859	P	.	.	0.998	N	1.355	L	1.0	T	-1.060	T	0.079	T	0.475	-0.325	2.458	1.8	0.984	1.209	7.025	0.084	.	0.0009	0.0167732	0.0148	0.0005	0.0012	0.0337	0	0.0005	0.0090	0.0759	0.0085898	1328	154602	rs114641853	0.0048	0.0049	0.0033	0.0064	0.0591	0.0047	0.0047	0.0577	0.0571	0.0002	0.0004	0	0.0299	0	0.0015	0.0005	0.0047	0.0591	0.0030	0.0030	0.0019	0.0041	0.0630	0.0027	0.0027	0.0571	0.0549	0.0002	0	0.0003	0	0.0191	0	0.0034	0.0004	0.0024	0.0630	0.037	0.43085	D	0.058	0.46406	T	0.989	0.62824	D	0.859	0.61184	P	.	.	.	.	0.998387	0.22188	N	2.125	0.59049	M	1.0	0.41392	T	-3.28	0.65627	D	0.515	0.54584	-1.0598	0.11805	T	0.079	0.31314	T	9	0.0034672916	0.00061	T	.	.	.	0.084	0.24469	.	.	0.159798565429	0.15598	0.0477392602249862	0.04716	.	.	0.801177322865	0.82142	T	0.043613	0.26557	T	-0.458615	0.01003	T	-0.387523	0.34843	T	0.0518186714386404	0.05817	T	0.676832	0.28555	T	0.35388973	0.57368	0.45053053	0.68024	0.35388973	0.57368	0.45053053	0.68025	-3.311	0.13879	T	.	.	0.199	0.50898	B	.;.	.;.	2.480057	0.31981	18.90	0.58543926219636166	0.06017	0.19323	0.20616	N	AEFDI	0.117440	0.23006	N	-0.227247272579008	0.32020	1.801393	-0.442561024818947	0.23760	1.29745	3.42504440729709E-5	0.03775	0.615465	0.37627	0	0.550933	0.16991	0	0.489635	0.07774	0	0.655142	0.61905	0	.	.	1.8	1.8	0.24069	1.807000	0.38540	7.136000	0.57639	0.265000	0.18437	0.947000	0.32937	1.000000	0.68203	0.050000	0.15192	0.0:1.0:0.0:0.0	7.025	0.24113	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1817.98	34	chr2	106468221	.	C	G	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.810e-01;DP=848;ExcessHet=0.0000;FS=2.186;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.42;MQRankSum=2.60;QD=13.37;ReadPosRankSum=0.696;SOR=0.524	GT:AD:DP:GQ:PL	0/1:59,77:136:99:1832,0,1331	20	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,92,0:179:99:.:.:2435,0,2188,2696,2464,5159	3	5	3	0
chr2	112738876	112738876	G	A	exonic	CKAP2L	.	nonsynonymous SNV	CKAP2L:NM_001304361:exon9:c.C1690T:p.R564C	Filippi syndrome, Autosomal recessive	.	439	1042	40	1	0	42	0.0197554	.	.	696976	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.966	D	0.378	B	0.002	N	1.000	D	2.24	M	1.34	T	-0.976	T	0.075	T	0.376	2.632	14.76	4.57	1.626	2.301	8.592	0.199	.	0.0082	0.00479233	0.0097	0.0021	0.0058	0	0.0057	0.0112	0.0077	0.0182	0.0093142	1440	154602	rs76036957	0.0098	0.0098	0.0093	0.0102	0.0181	0.0096	0.0096	0.0174	0.0171	0.0013	0.0068	0.0059	2.519e-05	0.0057	0.0099	0.0102	0.0086	0.0181	0.0078	0.0078	0.0079	0.0077	0.0141	0.0074	0.0073	0.0114	0.0104	0.0021	0.0493	0.0090	0.0095	0.0002	0.0038	0.0102	0.0112	0.0071	0.0141	0.0	0.91255	D	0.031	0.53788	D	0.966	0.56202	D	0.378	0.43788	B	0.001663	0.38326	N	0.247068	0.999705	0.81001	D	2.445	0.70938	M	1.34	0.34841	T	-4.35	0.76900	D	0.235	0.26475	-0.9756	0.35993	T	0.075	0.30086	T	10	0.006101191	0.00137	T	.	.	.	0.199	0.48268	.	.	0.220303561663	0.21668	0.6024839971628364	0.60179	0.33601122807	0.35606	0.41950160265	0.27768	T	0.055558	0.30039	T	-0.387086	0.02809	T	-0.314518	0.43171	T	0.0509182101076658	0.05661	T	0.851715	0.53598	D	0.38217694	0.59474	0.25210404	0.50833	0.3203046	0.54665	0.25210404	0.50832	-7.852	0.60057	D	0.6133946603070386	0.68116	0.191	0.40921	B	.	.	3.119182	0.42106	21.5	0.99421121823061132	0.63790	0.77125	0.37887	D	AEFBI	0.258980	0.37742	N	0.328897022263505	0.57636	3.931799	0.364932610761628	0.59413	4.119	0.992322588929736	0.32799	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.45	4.57	0.55860	2.049000	0.40912	4.964000	0.46359	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.1531:0.7642:0.0	8.592	0.32856	614	0.66605	Cytoskeleton-associated protein 2, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1769.98	33	chr2	112738876	.	G	A	1769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=832;ExcessHet=0.0000;FS=3.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-3.070e-01;SOR=1.030	GT:AD:DP:GQ:PL	0/1:60,69:129:99:1784,0,1234	20	0	1	0
chr2	118847125	118847125	C	G	exonic	EN1	.	nonsynonymous SNV	EN1:NM_001426:exon1:c.G43C:p.A15P,	.	.	420	1098	4	0	0	4	0.00181818	.	.	2340571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.311	U	1.000	N	0	N	-2.88	D	-0.631	T	0.442	T	0.158	2.465	14.20	2.43	1.851	0.556	5.759	0.173	0.705953426109	.	.	0.0001	0	0	0	.	0.0006	0	0	3.88e-05	6	154602	rs767769043	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0006	0.0004	0	0.0008	0	0	0	0.0014	0.0002	0.0001	9.123e-05	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	2.409e-05	0	0.0007	0	0	9.506e-05	0.0034	0.0004	0	0	0.013	0.53900	D	0.118	0.36233	T	0.0	0.02946	B	0.0	0.01387	B	0.310909	0.14435	U	0.512646	0.999992	0.08975	N	0	0.06538	N	-2.88	0.91533	D	-0.17	0.09627	N	0.309	0.34874	-0.6310	0.63528	T	0.442	0.77971	T	9	0.09779328	0.17636	T	0.705953	0.97601	D	0.173	0.43840	0.218	0.13932	0.389366070519	0.38549	0.2152274563139408	0.21438	.	.	0.90480774641	0.96956	D	0.212039	0.57297	T	-0.277879	0.10894	T	-0.291992	0.45564	T	0.038871764732402	0.03488	T	0.248475	0.03691	T	0.13166201	0.30681	0.24595952	0.50095	0.13166201	0.30681	0.24595952	0.50093	-2.4	0.05133	T	.	.	0.121	0.25133	B	.	.	2.818513	0.37125	20.4	0.98682775020491109	0.44638	0.48581	0.28239	N	AEFDBHCIJ	0.101295	0.20349	N	-0.474571703042022	0.22916	1.226977	-0.318729320506917	0.27493	1.526009	0.999999492721277	0.74766	0.59774	0.34471	0	0.657636	0.61667	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.32	2.43	0.28797	0.559000	0.23190	2.573000	0.33375	-0.539000	0.04938	0.997000	0.40164	0.054000	0.21897	0.202000	0.21954	0.0:0.8497:0.0:0.1503	5.759	0.17455	738	0.53389	.	.	.	.	.	.	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	0.02381	186.98	34	chr2	118847125	.	C	G	186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.031e+00;DP=714;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.84;ReadPosRankSum=-1.750e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:20,12:32:99:201,0,498	20	0	1	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,259,0:259:99:.:.:7961,777,0,7961,777,7961	4	10	6	0
chr2	131252972	131252972	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.G1651A:p.G551R,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.097	B	0.001	B	.	.	1.000	N	0.345	N	-1.95	D	-0.891	T	0.281	T	0.085	0.794	8.182	-0.867	-0.461	0.239	.	0.072	0.11707472319	.	.	7.841e-05	0	0	0.0002	0	0.0001	0	0	3.84e-05	1	26028	rs747324485	4.311e-05	4.857e-05	4.493e-05	4.126e-05	0.0002	3.443e-05	3.129e-05	3.545e-05	3.205e-05	2.992e-05	4.472e-05	0	2.519e-05	0	0.0002	4.587e-05	9.941e-05	1.16e-05	2.63e-05	3.937e-05	3.859e-05	1.345e-05	4.837e-05	8.15e-06	5.14e-06	8.02e-06	3e-06	4.837e-05	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.247	0.23914	T	0.097	0.25541	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.25	0.31749	L	-1.95	0.85003	D	-0.13	0.08971	N	0.132	0.12770	-0.8912	0.48828	T	0.281	0.65340	T	8	0.05398172	0.05677	T	0.117075	0.79675	D	0.072	0.21020	0.306	0.27646	0.180583059064	0.17676	0.0024340441124241913	0.00225	.	.	0.579795718193	0.50058	T	0.01587	0.13230	T	-0.157226	0.27188	T	-0.463621	0.26207	T	0.148939257046348	0.17018	T	0.60264	0.22576	T	0.12551932	0.29423	0.23179989	0.48322	0.12551932	0.29423	0.23179989	0.48321	-6.614	0.51160	T	.	.	0.214	0.44240	B	.;.	.;.	2.134828	0.27180	17.37	0.97082720155575575	0.32289	0.00383	0.01935	N	AEFI	0.031845	0.03484	N	-1.55527089243224	0.01504	0.06567041	-1.65484345530872	0.01351	0.06099101	1.37461070047066E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.458	-0.867	0.10115	-0.837000	0.04485	.	.	-0.334000	0.05750	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	995.98	35	chr2	131252972	.	G	A	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.90;DP=1173;ExcessHet=0.0000;FS=4.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.45;MQRankSum=-3.933e+00;QD=2.31;ReadPosRankSum=2.27;SOR=1.147	GT:AD:DP:GQ:PL	0/1:346,86:432:99:1010,0,7800	20	0	1	0
chr2	135126596	135126596	A	G	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon11:c.A913G:p.I305V	Warburg micro syndrome 1, Autosomal recessive	.	4	1474	41	3	0	47	0.0156928	.	.	135518	not_provided|not_specified|RAB3GAP1-related_disorder|Warburg_micro_syndrome_1	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.042	N	1.000	N	0.895	L	0.01	T	-1.030	T	0.085	T	0.067	1.489	10.93	-5.78	-1.351	0.050	14.072	0.097	.	0.0072	0.00898562	0.0089	0.0021	0.0054	0.0001	0.0026	0.0099	0.0110	0.0189	0.0086804	1342	154602	rs116775947	0.0077	0.0078	0.0072	0.0083	0.0187	0.0076	0.0076	0.0180	0.0177	0.0012	0.0052	0.0198	7.568e-05	0.0024	0.0141	0.0073	0.0083	0.0187	0.0066	0.0065	0.0069	0.0062	0.0228	0.0062	0.0061	0.0194	0.0181	0.0016	0	0.0078	0.0202	0.0002	0.0025	0.0034	0.0086	0.0076	0.0228	0.341	0.12673	T	0.279	0.29442	T	0.0	0.02946	B	0.001	0.04355	B	0.041509	0.23942	N	0.490245	0.999958	0.19072	N	1.04	0.26193	L	0.01	0.62459	T	-0.27	0.12099	N	0.13	0.14338	-1.0304	0.20325	T	0.085	0.33099	T	10	0.005227387	0.00114	T	.	.	.	0.097	0.27909	.	.	0.17948927462	0.17512	0.2884991921773474	0.28762	0.184370431722	0.20736	0.294789135456	0.09627	T	0.061067	0.31556	T	-0.59588	0.00154	T	-0.613122	0.11732	T	0.00159665183169324	0.00016	T	0.777722	0.41106	T	0.027858831	0.02039	0.03528073	0.02750	0.027074276	0.01849	0.05714349	0.10334	-3.78	0.20506	T	0.1100644318538572	0.09261	0.061	0.01449	B	.;.;.	.;.;.	0.537842	0.09066	5.847	0.67689070614332958	0.08430	0.26068	0.22886	N	AEFBCI	0.112483	0.22231	N	-1.17102947563102	0.05442	0.2481394	-1.14005652483478	0.06947	0.3361967	0.991107614601228	0.32374	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	-5.78	0.02169	0.048000	0.13962	0.132000	0.15059	-0.191000	0.09375	0.038000	0.20882	0.279000	0.24096	0.981000	0.58702	0.1983:0.6775:0.1243:0.0	14.072	0.64387	832	0.38914	.;.;.	.	.	.	.	rs116775947	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	0.02381	1333.98	33	chr2	135126596	.	A	G	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-4.620e-01;SOR=0.767	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1348,0,1202	20	0	1	0
chr2	135132926	135132926	C	G	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon14:c.C1268G:p.P423R	Warburg micro syndrome 1, Autosomal recessive	.	24	1490	8	0	0	8	0.00267738	.	.	365536	Warburg_micro_syndrome_1|not_provided	MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.468	P	0.1	B	0.228	N	1.000	N	1.245	L	0.92	T	-1.056	T	0.068	T	0.249	1.067	9.358	3.29	0.547	2.054	8.432	0.029	0.0127237545272	.	0.000399361	0.0006	9.773e-05	0.0003	0	0	0.0002	0	0.0036	0.0005757	89	154602	rs143010678	0.0003	0.0003	0.0002	0.0005	0.0032	0.0003	0.0003	0.0028	0.0027	3.057e-05	2.239e-05	0	2.539e-05	1.878e-05	0.0032	0.0002	0.0003	0.0031	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	2.409e-05	0	0.0003	0	0	0	0	0.0002	0	0.0025	0.012	0.54683	D	0.042	0.50226	D	0.468	0.36503	P	0.1	0.30674	B	0.227915	0.15987	N	0.664924	1	0.08975	N	1.735	0.44892	L	0.92	0.44856	T	-1.47	0.37178	N	0.28	0.31702	-1.0559	0.12803	T	0.068	0.27811	T	10	0.0061053634	0.00137	T	0.012724	0.31538	T	0.029	0.06676	.	.	0.367229591828	0.36328	0.2104353704282954	0.20959	0.259043582992	0.28458	0.308571577072	0.11691	T	0.130254	0.45904	T	-0.473822	0.00805	T	-0.456754	0.26952	T	0.00674449374715561	0.00076	T	0.79692	0.44048	T	0.060936794	0.12560	0.06708236	0.13829	0.05159249	0.09495	0.073271774	0.15904	-3.547	0.17338	T	0.2089085635546057	0.27954	0.097	0.16800	B	.;.;.	.;.;.	1.356155	0.17643	13.29	0.98034752028762584	0.37743	0.34280	0.25030	N	AEFBI	0.076307	0.15347	N	-0.622205003327226	0.18278	0.9476791	-0.6040986123179	0.19388	1.039947	0.340299420414568	0.19576	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.08	3.29	0.36801	2.123000	0.41620	-0.355000	0.09716	0.549000	0.26987	0.195000	0.24249	0.000000	0.08366	0.974000	0.55675	0.0:0.6999:0.0:0.3001	8.432	0.31927	842	0.36989	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1049.98	37	chr2	135132926	.	C	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.720e-01;DP=776;ExcessHet=0.0000;FS=0.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=0.191;SOR=0.578	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1064,0,1015	20	0	1	0
chr2	142960678	142960678	G	C	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon8:c.G637C:p.D213H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.996	D	0.912	D	0.000	D	1.000	D	2.265	M	0.44	T	-0.441	T	0.335	T	0.493	3.378	17.39	5.35	2.668	6.214	19.079	0.184	0.0146019064306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.44029	T	0.028	0.54934	D	0.025	0.19245	B	0.034	0.22546	B	0.000498	0.43931	D	0.260668	0.999998	0.58761	D	2.14	0.59869	M	0.44	0.56609	T	-4.62	0.81431	D	0.522	0.55713	-0.4414	0.70683	T	0.335	0.70166	T	10	0.5629133	0.64889	D	0.014602	0.34823	T	0.184	0.45763	0.411	0.44723	0.861392150857	0.86005	0.7965275537880769	0.79605	0.0950718801951	0.10730	0.50801217556	0.39944	T	0.636928	0.88818	D	-0.00327238	0.51204	T	-0.242477	0.50558	T	0.974040567874908	0.70344	D	0.89611	0.66687	D	0.39649847	0.60489	0.39619872	0.64267	0.39649847	0.60490	0.39619872	0.64267	-9.378	0.73160	D	0.40336162957113375	0.49482	0.186	0.47997	B	.;.;.;.	.;.;.;.	3.586120	0.50577	23.0	0.99065854293338607	0.51598	0.97781	0.77086	D	AEFBI	0.896780	0.83822	D	0.496253117918684	0.66870	5.006543	0.558985198089472	0.72026	5.745163	0.999999999307194	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.35	5.35	0.76297	7.135000	0.76878	8.593000	0.77695	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	19.079	0.93156	921	0.19240	Aminotransferase class V domain;.;Aminotransferase class V domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	188.92	76	chr2	142960678	.	G	C	188.92	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-6.920e-01;DP=1396;ExcessHet=0.1072;FS=223.228;InbreedingCoeff=-0.2395;MLEAC=4;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=0.99;ReadPosRankSum=2.43;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,26:100:99:.:.:149,0,1354	7	0	2	12
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:8,8,0,0:16:99:162,0,145,185,169,355,185,169,355,355	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:8,8,0,0:16:99:162,0,145,185,169,355,185,169,355,355	1	6	10	0
chr2	151441951	151441951	G	A	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon15:c.G1694A:p.G565D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.075	M	2.27	T	-1.016	T	0.123	T	0.838	4.514	24.3	5.4	2.541	8.260	18.772	0.305	0.0204137417698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.42487	T	0.0	0.92824	D	1.0	0.90584	D	0.988	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	2.27	0.17431	T	-2.42	0.53096	N	0.82	0.86404	-1.0165	0.24852	T	0.123	0.42568	T	10	0.6401906	0.69012	D	0.020414	0.42999	T	0.305	0.62620	0.338	0.32816	0.347992687056	0.34409	0.6540816671368557	0.65344	0.340449770571	0.35984	0.732490062714	0.71870	T	0.489765	0.81485	T	0.146391	0.68930	D	-0.0274966	0.68534	D	0.981702089309692	0.74064	D	0.932807	0.74830	D	0.4668066	0.65094	0.47849584	0.69791	0.4668066	0.65094	0.47849584	0.69792	-2.608	0.06564	T	.	.	0.976	0.90590	P	.;.;.;.;.	.;.;.;.;.	5.451672	0.91058	32	0.99847732107209064	0.92750	0.98510	0.83546	D	AEFBI	0.876938	0.80124	D	0.841431069487819	0.88613	9.645238	0.825340929314976	0.91499	10.91693	0.999999618382924	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.4	5.4	0.77957	8.381000	0.90041	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.772	0.91863	810	0.42761	.;.;.;.;.	.	.	.	.	.	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	0.02381	613.98	33	chr2	151441951	.	G	A	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.130;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=1.24;SOR=0.724	GT:AD:DP:GQ:PL	0/1:25,28:53:99:628,0,538	20	0	1	0
chr2	151812356	151812356	C	G	splicing	ARL5A	NM_001037174:exon4:c.228+1G>C;NM_012097:exon4:c.339+1G>C;NM_177985:exon4:c.228+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.426	23.5	4.68	2.153	7.818	17.586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.782e-06	5.886e-05	4.157e-06	1.396e-06	3.642e-06	6.5e-07	4.4e-07	8.5e-07	5.8e-07	0	0	0	0	0	0	3.642e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439775	0.92012	D	0.39393	0.91914	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.231749	0.96294	35	0.99502293485953874	0.68089	0.99595	0.97811	D	AEFGBI	.	.	.	1.08373552501254	0.97822	16.83379	0.914098951252691	0.96157	14.36763	0.999999999922868	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.125526	0.03468	0	0.221052	0.04502	0	0.980099	0.85116	4.68	4.68	0.58319	7.892000	0.85858	.	.	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.586	0.87881	815	0.41851	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	31.83	19	chr2	151812356	.	C	G	31.83	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.340e-01;DP=495;ExcessHet=0.1190;FS=282.926;InbreedingCoeff=0.0517;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=0.386;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,9:27:25:.:.:25,0,152	16	0	2	3
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:117,53:170:70:70,0,2083	3	0	15	3
chr2	158621038	158621038	A	G	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon5:c.A329G:p.Q110R	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.003	N	0.995	N	0.69	N	-0.77	T	-0.822	T	0.235	T	0.16	2.217	13.37	4.62	0.990	4.402	12.317	0.130	0.015169636327	0.0005	.	0.0007	0	8.64e-05	0	0.0002	0.0012	0.0033	0	0.0006209	96	154602	rs148019751	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0005	0.0011	0.0008	5.974e-05	0.0004	0.0130	0	0.0002	0.0019	0.0003	0.0013	0.0001	0.0005	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0003	0.0003	7.216e-05	0	0.0001	0.0124	0	0	0	0.0004	0.0005	0.0002	0.036	0.46910	D	0.265	0.22694	T	0.0	0.02946	B	0.0	0.01387	B	0.003366	0.35041	N	0.362321	0.99505	0.23385	N	1.265	0.31966	L	-0.77	0.73523	T	-0.63	0.18459	N	0.228	0.25622	-0.8219	0.53815	T	0.235	0.60148	T	10	0.005995482	0.00135	T	0.01517	0.35746	T	0.130	0.35528	.	.	0.725496674379	0.72306	0.30602091935811665	0.30515	0.191457487141	0.21472	0.448989152908	0.31805	T	0.055472	0.38585	T	-0.300764	0.08588	T	-0.322632	0.42286	T	0.0272140596675426	0.01574	T	0.757524	0.38090	T	0.10324403	0.24403	0.09054911	0.21241	0.10324403	0.24402	0.09054911	0.21240	-3.703	0.19363	T	.	.	0.086	0.11172	B	.;.;.	.;.;.	2.529049	0.32697	19.12	0.98831422657988854	0.46952	0.97926	0.78179	D	AEFBI	0.670421	0.63751	D	-0.161016317309192	0.34767	1.988529	0.0331534570911875	0.41264	2.476225	0.99717477315629	0.35344	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.79	4.62	0.56946	4.638000	0.61051	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.8731:0.0:0.0:0.1268	12.317	0.54286	775	0.48401	.;.;.	.	.	.	.	.	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	0.02381	1211.98	33	chr2	158621038	.	A	G	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.519e+00;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-3.000e-02;SOR=0.753	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1226,0,1464	20	0	1	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N	.	.	431	977	111	3	0	117	0.0564944	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.004	B	0.002	B	0.115	U	0.995	N	-0.41	N	3.27	T	-0.986	T	0.010	T	0.055	0.894	8.631	4.99	2.941	0.756	6.597	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6118.11	34	chr2	159350063	.	C	T	6118.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.13;DP=1127;ExcessHet=0.1072;FS=4.027;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.370e-01;SOR=0.957	GT:AD:DP:GQ:PL	0/1:107,90:197:99:2299,0,2737	19	0	2	0
chr2	162310782	162310782	C	T	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon2:c.G605A:p.C202Y,	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	.	433	1086	3	0	0	3	0.00137931	.	.	1359805	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.94	T	0.019	B	0.007	B	0.684	N	1.000	N	1.1	L	3.54	T	-0.926	T	0.010	T	0.091	2.646	14.81	-4.62	-0.285	-1.477	0.782	0.088	0.00284201341971	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332221584	4.106e-06	4.104e-06	5.447e-06	2.751e-06	0.0002	1.48e-06	9.7e-07	3e-07	1.1e-07	0	2.237e-05	0	0	0	0.0002	1.799e-06	3.313e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.20607	T	0.402	0.14912	T	0.001	0.17989	B	0.001	0.12992	B	0.684059	0.06107	N	1.127800	1	0.08975	N	1.04	0.26193	L	3.54	0.04799	T	-1.28	0.67589	N	0.136	0.13341	-0.9263	0.44673	T	0.010	0.03582	T	10	0.042201847	0.02947	T	0.002842	0.05956	T	0.088	0.25558	0.299	0.26522	0.112648838833	0.10856	0.3644662637610849	0.36360	0.0319382230525	0.03313	0.301425397396	0.10613	T	0.074522	0.34958	T	-0.405343	0.02135	T	-0.737158	0.04011	T	0.0322418688824803	0.02345	T	0.374863	0.13018	T	0.04297304	0.06613	0.0718158	0.15420	0.04297304	0.06612	0.0718158	0.15420	-3.909	0.22438	T	0.15098291758838348	0.17777	0.058	0.03336	B	.;.;.;.	.;.;.;.	0.726349	0.10958	7.620	0.7714561746812979	0.11755	0.02587	0.07144	N	AEFGBI	0.053460	0.09634	N	-1.12072049904176	0.06275	0.2884357	-1.13350209440212	0.07068	0.3424318	0.999994319315159	0.74766	0.615465	0.37627	0	0.581341	0.33841	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.43	-4.62	0.03129	-1.105000	0.03433	-1.716000	0.04859	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.4176:0.1627:0.2142:0.2056	0.782	0.00976	544	0.72685	.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	995.98	33	chr2	162310782	.	C	T	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.149;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=-1.511e+00;SOR=0.742	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1010,0,1592	20	0	1	0
chr2	169271026	169271026	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon16:c.T2198C:p.M733T,	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.304	B	0.096	B	0.000	D	1.000	D	1.185	L	-2.74	D	0.063	D	0.595	D	0.186	2.997	16.00	5.77	2.326	9.197	16.395	0.355	0.0850894522534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs890216396	5.475e-06	5.472e-06	2.724e-06	8.254e-06	0.0002	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.398e-06	0	1.159e-05	1.973e-05	1.97e-05	3.857e-05	0	6.559e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.559e-05	0	0	0	0	2.942e-05	0	0	0.134	0.26300	T	0.376	0.16182	T	0.304	0.32663	B	0.096	0.30313	B	0.000234	0.47286	D	0.240515	0.999794	0.81001	D	1.52	0.38360	L	-2.74	0.90735	D	-2.89	0.60665	D	0.435	0.47395	0.063	0.83481	D	0.595	0.85543	D	10	0.34946162	0.51839	T	0.085089	0.74461	D	0.355	0.67600	0.315	0.29096	0.294470080753	0.29051	0.5401017618854287	0.53935	0.275970821921	0.30079	0.420964211226	0.27969	T	0.286641	0.65943	T	0.028363	0.55504	T	-0.197035	0.54927	T	0.872089564800262	0.52197	D	0.794521	0.43681	T	0.31138846	0.53907	0.39132914	0.63906	0.31138846	0.53907	0.39132914	0.63906	-5.968	0.46011	T	0.28125261953112424	0.37659	0.536	0.66203	A	.;.	.;.	2.876870	0.38057	20.6	0.96181587473375496	0.28960	0.99203	0.92752	D	AEFI	0.921497	0.89505	D	0.243405268721857	0.53313	3.500797	0.412361687193147	0.62332	4.447112	0.99999833400752	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.77	5.77	0.91077	9.156000	0.93862	11.103000	0.86162	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	1.0:0.0:0.0:0.0	16.395	0.83423	892	0.26670	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	883.98	34	chr2	169271026	.	A	G	883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.534e+00;DP=770;ExcessHet=0.0000;FS=1.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-1.450e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:36,42:78:99:898,0,819	20	0	1	0
chr2	169608732	169608732	G	C	exonic	PPIG	.	nonsynonymous SNV	PPIG:NM_004792:exon7:c.G351C:p.K117N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.988	D	0.000	D	1.000	D	2.02	M	0.96	T	-0.794	T	0.206	T	0.418	2.371	13.89	0.397	-0.157	1.193	11.092	0.261	0.01944597803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.379e-06	7.526e-06	2.746e-06	0	2.244e-05	2.3e-07	9e-08	.	.	0	2.244e-05	0	0	0	0	9.069e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.975	0.77976	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	1.945	0.52268	M	0.96	0.42888	T	-4.16	0.77798	D	0.63	0.74553	-0.7942	0.55485	T	0.206	0.56458	T	10	0.52530545	0.62874	D	0.019446	0.41815	T	0.261	0.57352	0.526	0.63115	0.430901523487	0.42706	0.8581340116100287	0.85776	2.18312323932	0.95585	0.858037412167	0.90821	D	0.254366	0.62501	T	-0.0820767	0.39377	T	-0.355674	0.38553	T	0.984650313854218	0.75892	D	0.948505	0.80194	D	0.86334527	0.88342	0.718911	0.83405	0.86334527	0.88343	0.718911	0.83406	-14.686	0.95073	D	.	.	0.997	0.96865	P	.;.;.;.;.;.	.;.;.;.;.;.	3.966139	0.58200	24.0	0.96150424860349593	0.28866	0.91014	0.52693	D	AEFBI	0.577529	0.57909	D	0.27786992997667	0.55027	3.667272	0.181881338303824	0.48854	3.095905	6.26995957631514E-5	0.04366	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	0.397	0.15537	1.197000	0.31819	2.109000	0.30648	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.4296:0.0:0.5704:0.0	11.092	0.47339	688	0.59122	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;.;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	64.72	41	chr2	169608732	.	G	C	64.72	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.466e+00;DP=1165;ExcessHet=0.1072;FS=72.029;InbreedingCoeff=-0.0486;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=0.33;ReadPosRankSum=1.37;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,11:76:78:0|1:169608732_G_C:78,0,2047:169608732	19	0	2	0
chr2	170716722	170716722	C	G	exonic	SP5	.	nonsynonymous SNV	SP5:NM_001003845:exon2:c.C515G:p.P172R,	.	.	416	1102	4	0	0	4	0.00181159	.	.	3333708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.443	B	0.024	B	0.003	U	0.917	N	0	N	2.97	T	-0.957	T	0.010	T	0.31	0.526	6.848	2.22	0.847	-0.551	7.424	0.055	0.0572792583612	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs766975667	5.31e-05	5.267e-05	4.427e-05	6.218e-05	0.0007	4.292e-05	3.941e-05	0.0002	0.0001	0.0001	0.0002	0	0	0	0.0007	3.87e-05	0.0002	8.204e-05	7.237e-05	7.225e-05	5.144e-05	9.43e-05	0.0003	3.976e-05	3.131e-05	8.882e-05	5.39e-05	2.414e-05	0	0.0003	0	0	0	0	8.828e-05	0	0	0.124	0.27426	T	0.466	0.12386	T	0.443	0.35940	B	0.024	0.20255	B	0.002675	0.36137	U	0.179891	0.917263	0.27375	N	0	0.06538	N	2.97	0.09450	T	-0.58	0.17417	N	0.231	0.25989	-0.9573	0.39681	T	0.010	0.03856	T	10	0.08108929	0.13237	T	0.057279	0.66910	D	0.055	0.15663	0.286	0.24440	0.0884992946249	0.08302	0.43255532588836326	0.43172	.	.	0.81601524353	0.84417	D	0.075507	0.35195	T	-0.459369	0.00992	T	-0.602794	0.12577	T	0.0189691300719413	0.00606	T	0.442956	0.12306	T	0.08950668	0.20914	0.13212015	0.31711	0.08950668	0.20914	0.13212015	0.31710	-8.214	0.62519	D	.	.	0.249	0.48417	B	.	.	1.679423	0.21404	15.18	0.96255385410749661	0.29198	0.76050	0.37270	D	AEFBCI	0.222551	0.34703	N	-0.651173195377701	0.17426	0.8966121	-0.609137552563071	0.19258	1.032453	0.999996066706766	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.14	2.22	0.27116	-0.340000	0.07868	1.649000	0.27835	0.497000	0.22564	0.000000	0.06391	0.909000	0.28100	0.205000	0.22041	0.2589:0.7411:0.0:0.0	7.424	0.26260	506	0.75555	.	.	.	.	.	.	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	0.02381	895.98	38	chr2	170716722	.	C	G	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.463;DP=815;ExcessHet=0.0000;FS=3.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=-1.935e+00;SOR=1.413	GT:AD:DP:GQ:PL	0/1:22,35:57:99:910,0,496	20	0	1	0
chr2	170859754	170859754	A	G	exonic	GAD1	.	nonsynonymous SNV	GAD1:NM_000817:exon17:c.A1657G:p.M553V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.971	D	0.556	P	0.000	D	1.000	D	3.405	M	1.44	T	-0.503	T	0.182	T	0.932	4.121	21.2	5.47	2.203	8.910	15.848	0.543	0.126744902045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.971	0.57185	D	0.556	0.49411	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.65	0.94181	H	1.44	0.32722	T	-2.86	0.60188	D	0.74	0.74007	-0.5032	0.68534	T	0.182	0.53041	T	10	0.83800626	0.82955	D	0.126745	0.80845	D	0.543	0.80960	0.44	0.49484	0.750324280283	0.74806	0.8194515200784575	0.81902	1.49074942541	0.86867	0.71763253212	0.69701	T	0.780602	0.94205	D	0.28514	0.81751	D	0.171807	0.81516	D	0.994287669658661	0.85484	D	0.996589	0.98773	D	0.90169173	0.91535	0.8760866	0.93289	0.90169173	0.91536	0.8760866	0.93289	-10.666	0.77795	D	0.6787102947863232	0.75481	0.681	0.72197	P	.	.	4.650938	0.74135	26.1	0.99541031579729955	0.70523	0.98555	0.84043	D	AEFBI	0.914899	0.87893	D	0.814834557906431	0.87026	9.077729	0.788329262131117	0.88969	9.78699	0.999999875085157	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.47	5.47	0.80345	8.947000	0.92735	11.274000	0.91505	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.848	0.78686	446	0.79659	.	.	.	.	.	.	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	0.02381	736.98	35	chr2	170859754	.	A	G	736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.472e+00;DP=742;ExcessHet=0.0000;FS=2.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-9.500e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:25,33:58:99:751,0,612	20	0	1	0
chr2	174427809	174427809	G	A	exonic	SCRN3	.	nonsynonymous SNV	SCRN3:NM_001193528:exon8:c.G1168A:p.E390K	.	.	448	1073	1	0	0	1	0.000465766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.001	B	0.037	N	0.998	N	0.69	N	3.13	T	-0.952	T	0.014	T	0.095	0.579	7.125	3.18	1.125	1.737	10.713	0.037	0.00579481622044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.841e-07	0	1.378e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.871	0.02600	T	0.857	0.03717	T	0.0	0.02946	B	0.0	0.01387	B	0.036770	0.24482	N	0.462578	0.998196	0.22299	N	1.15	0.29295	L	3.13	0.08014	T	-0.76	0.21215	N	0.083	0.05929	-0.9518	0.40660	T	0.014	0.05608	T	10	0.06603563	0.08997	T	0.005795	0.15042	T	0.037	0.09474	0.297	0.26202	0.0954503805726	0.09146	0.21497207247981875	0.21413	0.0306437862494	0.03170	0.317543715239	0.13048	T	0.004137	0.03552	T	-0.319909	0.06905	T	-0.697304	0.05974	T	0.459185481071472	0.31135	T	0.653935	0.26417	T	0.068817794	0.15025	0.06460189	0.12971	0.068817794	0.15024	0.06460189	0.12971	-3.845	0.22738	T	.	.	0.075	0.05360	B	.;.	.;.	2.419533	0.31107	18.64	0.73073963365336236	0.10198	0.20310	0.20993	N	AEFGBI	0.091730	0.18577	N	-0.536303928978384	0.20915	1.106119	-0.384252563665954	0.25466	1.400632	0.91814218295789	0.26563	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.63	3.18	0.35615	1.447000	0.34712	4.835000	0.45233	0.676000	0.76740	0.034000	0.20669	1.000000	0.68203	0.959000	0.51448	0.2762:0.0:0.7238:0.0	10.713	0.45190	910	0.22284	.;.	.	.	.	.	.	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	0.02381	1148.98	34	chr2	174427809	.	G	A	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.770e-01;DP=776;ExcessHet=0.0000;FS=4.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=1.20;SOR=0.382	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1163,0,1038	20	0	1	0
chr2	176093094	176093094	-	GCGGCA	exonic	HOXD13	.	nonframeshift insertion	HOXD13:NM_000523:exon1:c.204_205insGCGGCA:p.A71_S72insAA,	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant	.	8	704	635	169	6	979	0.408652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0008	0	0	0	0.0013	0.0001035	16	154602	rs775525473	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0009	0.0008	0.0002	7.082e-05	0	0.0001	0	0.0016	7.043e-05	0.0003	0.0011	6.616e-05	6.568e-05	5.173e-05	8.128e-05	0.0006	3.539e-05	2.633e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.907e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	14698.8	35	chr2	176093094	.	G	A,GGCGGCA	14698.8	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.290;DP=1345;ExcessHet=1.3217;FS=0.527;InbreedingCoeff=-0.0027;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.902;SOR=0.632	GT:AD:DP:GQ:PL	0/1:38,38,0:76:99:1022,0,836,1136,950,2086	10	2	8	0
chr2	178732511	178732511	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon53:c.C12818T:p.S4273L	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	.	.	392316	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.874	P	.	.	1.000	D	2.875	M	-0.39	T	0.095	D	0.533	D	0.369	1.723	11.72	6.17	2.941	9.869	20.879	0.430	0.0330585741683	.	.	6.655e-05	0.0001	0.0003	0.0002	0	0	0	6.069e-05	5.17e-05	8	154602	rs769165258	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0002	1.111e-05	9.34e-06	0.0001	7.819e-05	2.988e-05	0.0002	0	0.0002	0	0	3.598e-06	0	3.479e-05	4.602e-05	4.597e-05	2.57e-05	6.731e-05	0.0002	2.11e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	6.55e-05	0	0.0002	0	0	0	0	0	0.159	0.23813	T	.	.	.	0.998	0.73220	D	0.874	0.62049	P	.	.	.	.	0.976277	0.81001	D	.	.	.	-0.39	0.69158	T	-3.22	0.64939	D	0.359	0.40565	0.095	0.84090	D	0.533	0.82689	D	9	0.3810508	0.54196	T	0.033059	0.54712	D	0.430	0.73662	0.51	0.60693	0.776151870229	0.77409	.	.	0.376731259237	0.39108	0.502177119255	0.39132	T	.	.	.	-0.182633	0.23345	T	-0.215402	0.53178	T	0.128156312359073	0.15210	T	0.854814	0.66442	D	.	.	.	.	.	.	.	.	-7.468	0.59581	T	.	.	0.164	0.36234	B	.;.;.;.	.;.;.;.	4.441298	0.68956	25.3	0.96016307211924579	0.28459	0.99411	0.95685	D	AEFBI	0.941890	0.94575	D	0.965836579863478	0.94593	12.88057	0.938724775922663	0.97050	15.51586	0.999999997105737	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.17	6.17	0.99707	10.003000	0.99689	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	20.879	0.99870	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5528.08	82	chr2	178732511	.	G	A	5528.08	.	AC=2;AF=0.048;AN=42;DP=1138;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.71;SOR=0.715	GT:AD:DP:GQ:PL	1/1:0,180:180:99:5556,540,0	20	1	0	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:32,0,12:44:96:0|1:186504215_G_C:96,191,1080,0,889,855:186504215	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:32,0,12:44:96:0|1:186504215_G_C:96,191,1080,0,889,855:186504215	0	0	8	4
chr2	186504216	186504216	T	C	splicing	ZC3H15	NM_018471:exon6:c.717+2T>C	.	.	.	.	.	.	.	.	.	.	.	0.9885	0.632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.746	15.14	5.01	2.021	6.166	15.022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247495080	0.0007	0.0072	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0008	2.875e-05	0.0003	0.0001	0.0002	0.0008	0.0009	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185856	0.72581	D	0.0291926	0.72226	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.148841	0.94671	34	0.99176868261411288	0.54556	0.94889	0.62681	D	ALL	.	.	.	0.983836673078108	0.95227	13.42256	0.81021516036993	0.90497	10.43329	0.999999999999597	0.74766	0.17398	0.03958	1	0.011162	0.00042	3	0.070486	0.01974	0	0.113624	0.03431	2	0.966	0.69059	5.01	5.01	0.66477	6.149000	0.71567	4.098000	0.41847	0.543000	0.25316	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:0.0:1.0	15.022	0.71298	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	84.46	42	chr2	186504216	.	T	C	84.46	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.728e+00;DP=959;ExcessHet=0.0000;FS=9.512;InbreedingCoeff=0.0457;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=1.70;SOR=2.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,12:44:96:0|1:186504215_G_C:96,0,855:186504215	14	0	1	6
chr2	189057318	189057318	A	C	splicing	COL5A2	NM_000393:exon34:c.2337+2T>G	.	.	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.006	20.5	5.92	2.267	9.339	16.359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.502e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.805e-05	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.611489	0.92537	32	0.99483564550460934	0.67014	0.99218	0.92973	D	AEFBI	.	.	.	1.15119548577923	0.98974	20.10665	1.01036033718981	0.98817	19.48842	0.999999999925718	0.74766	0.163922	0.03765	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24341	0.04801	0	0.979619	0.84361	5.92	5.92	0.95557	9.325000	0.96006	11.291000	0.92027	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	1.0:0.0:0.0:0.0	16.359	0.83084	836	0.38045	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	99.21	35	chr2	189057318	.	A	C	99.21	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.941e+00;DP=875;ExcessHet=0.1072;FS=37.987;InbreedingCoeff=-0.1070;MLEAC=2;MLEAF=0.059;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=2.20;SOR=5.413	GT:AD:DP:GQ:PL	0/1:31,13:44:61:61,0,640	15	0	2	4
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:45,19:64:99:134,0,757	0	0	19	2
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:20,8,10,2:40:69:137,69,562,0,248,448,162,483,511,906	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:20,8,10,2:40:69:137,69,562,0,248,448,162,483,511,906	2	0	4	0
chr2	219029469	219029469	G	T	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_001278296:exon10:c.C1389A:p.H463Q	.	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.557	P	0.111	B	0.705	N	1.000	D	2.015	M	3.59	T	-0.935	T	0.021	T	0.217	1.197	9.864	5.18	2.688	1.385	7.942	0.122	0.00514401937025	0.0004	0.000599042	0.0008	0	0.0014	0	0.0003	0.0011	0.0067	0.0003	0.0008085	125	154602	rs150200816	0.0005	0.0005	0.0005	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	0.0003	0.0020	0.0048	0	0.0001	0.0057	0.0003	0.0014	0.0006	0.0007	0.0007	0.0006	0.0008	0.0026	0.0006	0.0005	0.0020	0.0017	9.622e-05	0	0.0026	0.0058	0	0.0002	0	0.0003	0.0033	0.0010	0.451	0.10245	T	0.081	0.41742	T	0.557	0.38282	P	0.111	0.31539	B	0.705304	0.06227	N	1.166910	0.954511	0.26367	N	.	.	.	3.59	0.06368	T	-1.17	0.45587	N	0.337	0.39659	-0.9353	0.43349	T	0.021	0.08686	T	10	0.0089583695	0.00203	T	0.005144	0.13063	T	0.122	0.33800	0.446	0.50466	0.5073929853	0.50376	0.31062789499850624	0.30975	0.0791058433363	0.08898	0.219812646508	0.01299	T	0.025872	0.22241	T	-0.568736	0.00225	T	-0.59699	0.13065	T	0.0331956601018521	0.02503	T	0.541246	0.18617	T	0.097028	0.22865	0.08611691	0.19930	0.097028	0.22865	0.08611691	0.19929	-4.961	0.36414	T	.	.	0.135	0.31882	B	.;.;.;.;.	.;.;.;.;.	2.035897	0.25880	16.92	0.89779770804195913	0.19094	0.52168	0.29067	D	AEFDBCI	0.236329	0.35879	N	0.0325215651298387	0.43340	2.628782	0.121790523639878	0.45664	2.825702	0.802862119828783	0.24217	0.554377	0.28877	0	0.615948	0.52940	0	0.602189	0.34648	0	0.584449	0.35598	0	.	.	5.18	5.18	0.71140	1.429000	0.34511	3.374000	0.37954	0.676000	0.76740	0.875000	0.30889	1.000000	0.68203	0.789000	0.37270	0.0864:0.2137:0.6999:0.0	7.942	0.29125	595	0.68488	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7461.66	40	chr2	219029469	.	G	T	7461.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.775e+00;DP=1045;ExcessHet=0.0000;FS=0.954;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.26;ReadPosRankSum=0.604;SOR=0.779	GT:AD:DP:GQ:PL	1/1:0,167:167:99:5077,501,0	19	1	1	0
chr2	227532192	227532192	C	T	exonic	AGFG1	.	nonsynonymous SNV	AGFG1:NM_001135187:exon7:c.C869T:p.P290L,	.	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.965	D	0.656	P	.	.	1.000	D	0.345	N	1.84	T	-1.102	T	0.064	T	0.405	2.493	14.30	5.15	2.554	6.902	19.001	0.189	0.0313119143292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	0.999944	0.81001	D	.	.	.	1.84	0.24656	T	-2.37	0.52289	N	0.44	0.47857	-1.1017	0.03892	T	0.064	0.26597	T	9	0.26467407	0.43957	T	0.031312	0.53422	D	0.189	0.46613	0.425	0.47021	0.311241185304	0.30733	0.33218485201081754	0.33131	0.588024340677	0.54360	0.654130220413	0.60573	T	.	.	.	-0.0763326	0.40310	T	-0.347423	0.39500	T	0.806533780560842	0.46804	D	0.837416	0.50983	T	.	.	.	.	.	.	.	.	-5.238	0.39326	T	.	.	0.198	0.42111	B	.	.	3.140345	0.42469	21.5	0.94744896475286089	0.25439	0.98073	0.79369	D	AEFBI	0.725194	0.67426	D	0.439787032999993	0.63627	4.600018	0.521061704735285	0.69411	5.356284	0.999999999878836	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	6.980000	0.75938	3.343000	0.37723	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.001	0.92812	952	0.10565	.	.	.	.	.	.	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	0.02381	772.98	36	chr2	227532192	.	C	T	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=756;ExcessHet=0.0000;FS=0.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=-5.840e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/1:36,32:68:99:787,0,837	20	0	1	0
chr2	231216656	231216656	G	A	exonic	ARMC9	.	nonsynonymous SNV	ARMC9:NM_001271466:exon5:c.G367A:p.E123K	.	.	429	1092	1	0	0	1	0.000457666	.	.	850630	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.72	T	0.004	B	0.006	B	0.002	N	1.000	N	0.9	L	2.33	T	-1.016	T	0.062	T	0.327	1.895	12.29	3.65	0.644	3.930	7.846	0.058	0.00502367877329	0.0004	.	0.0007	0.0004	0.0003	0	0.0003	0.0011	0.0011	0	0.0006533	101	154602	rs201901213	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0010	0.0012	0.0011	0.0006	0.0002	0.0021	0	0.0002	0.0002	0.0012	0.0010	0	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0010	0.0009	0.0005	0	0.0003	0.0014	0	9.42e-05	0.0068	0.0012	0.0009	0	0.511	0.07473	T	0.388	0.17064	T	0.004	0.12183	B	0.006	0.12133	B	0.001726	0.38161	N	0.309345	0.999958	0.19072	N	1.39	0.34934	L	2.33	0.42122	T	-1.15	0.29525	N	0.105	0.17828	-1.0159	0.25045	T	0.062	0.25887	T	10	0.009439439	0.00213	T	0.005024	0.12690	T	0.058	0.16647	.	.	0.393316636838	0.38940	0.3083734940306559	0.30750	0.245369413854	0.27068	0.43195939064	0.29476	T	0.087709	0.38001	T	-0.462839	0.00944	T	-0.444877	0.28263	T	0.00849006759933505	0.00103	T	0.853215	0.54193	D	0.034452178	0.03867	0.08344278	0.19121	0.034452178	0.03867	0.08344278	0.19121	-5.988	0.46179	T	.	.	0.061	0.01909	B	.;.;.;.	.;.;.;.	2.535931	0.32792	19.15	0.98513653019398717	0.42374	0.92374	0.55564	D	AEFBI	0.315956	0.42038	N	-0.513095414127223	0.21655	1.15089	-0.391366815540338	0.25253	1.387659	0.804831696283892	0.24251	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.5	3.65	0.40985	4.026000	0.56942	3.090000	0.36275	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.969000	0.54022	0.1452:0.135:0.7198:0.0	7.846	0.28586	946	0.12043	.;.;.;.	.	.	.	.	.	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	0.02381	1406.98	33	chr2	231216656	.	G	A	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.270e-01;DP=822;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-2.300e-02;SOR=0.540	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1421,0,1361	20	0	1	0
chr2	236465650	236465650	G	C	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon6:c.C781G:p.R261G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.001	B	0.002	B	0.002	N	1.000	N	1.04	L	-3.31	D	-0.351	T	0.591	D	0.298	0.862	8.490	-8.74	-1.497	-2.582	0.307	0.044	0.0651396542524	.	.	8.399e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs768931666	6.843e-07	6.841e-07	1.362e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	6.574e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.325	0.13349	T	0.24	0.24406	T	0.001	0.07471	B	0.002	0.06944	B	0.001805	0.00828	N	2.740640	1	0.08975	N	.	.	.	-3.31	0.93835	D	-0.96	0.25551	N	0.209	0.28146	-0.3509	0.73527	T	0.591	0.85369	D	10	0.12408587	0.23563	T	0.06514	0.69490	D	0.322	0.64420	0.407	0.44066	0.408988072059	0.40512	0.19831534528679323	0.19748	0.0918896028849	0.10376	0.190599471331	0.00236	T	0.004668	0.04082	T	-0.0768793	0.40219	T	-0.265343	0.48289	T	0.0632910241032809	0.07676	T	0.133787	0.01059	T	0.041060474	0.05978	0.027453091	0.00899	0.041060474	0.05977	0.027453091	0.00899	-6.343	0.49063	T	.	.	0.084	0.12465	B	.;.;.	.;.;.	-0.389776	0.02250	0.231	0.78129258125269097	0.12168	0.02189	0.06400	N	AEFBI	0.086678	0.17575	N	-1.37526680788354	0.02871	0.1274172	-1.50000360235598	0.02345	0.1077041	0.316612623248408	0.19342	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.37	-8.74	0.00725	-2.320000	0.01200	-0.397000	0.09436	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3892:0.1593:0.1532:0.2983	0.307	0.00262	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	841.98	34	chr2	236465650	.	G	C	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.162e+00;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=1.40;SOR=0.719	GT:AD:DP:GQ:PL	0/1:40,38:78:99:856,0,985	20	0	1	0
chr2	238246431	238246431	T	C	exonic	PER2	.	nonsynonymous SNV	PER2:NM_022817:exon23:c.A3712G:p.T1238A,	Advanced sleep phase syndrome, familial, 1, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.001	B	0.002	B	0.033	N	1.000	N	0.755	N	2.96	T	-0.974	T	0.020	T	0.146	1.835	12.09	2.55	0.339	-1.349	5.991	0.034	0.00477956956257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.09401	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.033097	0.01764	N	2.048480	1	0.18612	N	1.04	0.26193	L	2.96	0.09542	T	-0.28	0.11547	N	0.044	0.01658	-0.9743	0.36279	T	0.020	0.08360	T	10	0.0329462	0.01458	T	0.00478	0.11941	T	0.034	0.08419	0.131	0.03577	0.246926113748	0.24311	0.16203153385114444	0.16124	0.214331367587	0.23966	0.249666959047	0.03733	T	0.039015	0.25043	T	-0.322966	0.06657	T	-0.701695	0.05734	T	0.0606949403882027	0.07277	T	0.374163	0.08891	T	0.01923962	0.00452	0.02396316	0.00411	0.01923962	0.00451	0.02396316	0.00411	-3.608	0.17973	T	.	.	0.067	0.02399	B	.	.	0.629347	0.09980	6.733	0.72882858563331099	0.10129	0.05107	0.10909	N	AEFBI	0.038901	0.05572	N	-1.03361488444375	0.07912	0.3692231	-0.986361485215773	0.10091	0.5060726	0.999844565443412	0.43971	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.91	2.55	0.29757	-1.465000	0.02463	-0.794000	0.07402	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.287000	0.24188	0.0:0.217:0.0:0.783	5.991	0.18695	851	0.35303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	908.98	42	chr2	238246431	.	T	C	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-01;DP=813;ExcessHet=0.0000;FS=1.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.185;SOR=0.574	GT:AD:DP:GQ:PL	0/1:29,41:70:99:923,0,633	20	0	1	0
chr2	240129931	240129931	G	A	exonic	COPS9	.	nonsynonymous SNV	COPS9:NM_138336:exon4:c.C361T:p.R121W,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	.	.	-1.049	T	0.049	T	0.049	-0.784	0.721	-3.09	-4.229	-1.544	1.715	0.027	.	0.0028	0.00139776	0.0051	0.0012	0.0050	0	0.0073	0.0056	0.0112	0.0071	0.0047024	727	154602	rs115914450	0.0041	0.0041	0.0040	0.0042	0.0078	0.0040	0.0040	0.0073	0.0071	0.0007	0.0027	0.0030	7.557e-05	0.0072	0.0040	0.0040	0.0038	0.0078	0.0031	0.0031	0.0032	0.0030	0.0044	0.0028	0.0028	0.0039	0.0037	0.0008	0	0.0024	0.0043	0.0002	0.0063	0.0034	0.0043	0.0014	0.0044	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	1.63	0.00629	N	0.207	0.22998	-1.0490	0.14677	T	0.049	0.20868	T	7	0.00360775	0.00065	T	.	.	.	0.027	0.05988	.	.	0.0884992946249	0.08302	0.060819580912718274	0.06021	0.195389630327	0.21877	0.206911593676	0.00687	T	.	.	.	-0.671541	0.00054	T	-0.734091	0.04145	T	0.00930137150031257	0.00118	T	0.435556	0.11926	T	.	.	.	.	.	.	.	.	-5.393	0.40852	T	.	.	0.366	0.57573	A	.	.	-0.254570	0.02823	0.391	0.78456567122932019	0.12309	0.00329	0.01719	N	AEFBCI	0.032994	0.03832	N	-2.02558438502064	0.00186	0.007984023	-2.19083033208253	0.00117	0.005156783	0.999998989451334	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.572659	0.19721	0	0.714379	0.83352	0	.	.	1.54	-3.09	0.05006	-2.417000	0.01112	-0.583000	0.08366	-2.444000	0.00282	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1797:0.1277:0.4403:0.2524	1.715	0.02724	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	8543.66	33	chr2	240129931	.	G	A	8543.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.603;DP=1099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=23.34;ReadPosRankSum=-2.451e+00;SOR=0.715	GT:AD:DP:GQ:PL	0/1:75,78:153:99:1950,0,1732	19	1	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,47:74:99:.:.:1695,1777,2866,0,1089,948	5	7	8	0
chr2	240868891	240868891	C	A	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon1:c.C26A:p.T9N,	Hyperoxaluria, primary, type 1, Autosomal recessive	YES	4	1474	42	2	0	46	0.0153641	.	.	200420	not_specified|not_provided|Primary_hyperoxaluria,_type_I	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.002	B	0.022	B	0.291	N	1.000	N	1.04	L	-2.5	D	-0.556	T	0.408	T	0.101	0.279	5.511	1.4	0.313	0.633	9.964	0.259	.	0.0067	0.00379393	0.0112	0.0018	0.0109	0	0.0156	0.0146	0.0197	0.0072	0.0082858	1281	154602	rs115014558	0.0091	0.0091	0.0090	0.0091	0.0146	0.0089	0.0089	0.0121	0.0111	0.0013	0.0062	0.0129	0	0.0133	0.0146	0.0096	0.0088	0.0067	0.0071	0.0071	0.0074	0.0068	0.0105	0.0067	0.0066	0.0098	0.0096	0.0019	0	0.0045	0.0176	0.0004	0.0119	0.0068	0.0105	0.0043	0.0044	0.045	0.40832	D	0.178	0.29639	T	0.001	0.07471	B	0.013	0.16460	B	0.290800	0.14772	N	0.690471	1	0.08975	N	0.55	0.14455	N	-2.5	0.89219	D	-1.03	0.27052	N	0.695	0.70000	-0.5564	0.66541	T	0.408	0.75699	T	10	0.007460147	0.00169	T	.	.	.	0.259	0.57090	.	.	0.462200489575	0.45844	0.7253533254968803	0.72479	0.0363000679413	0.03840	0.289268434048	0.08816	T	0.184053	0.53658	T	-0.459166	0.00995	T	-0.421949	0.30852	T	0.00124116546586736	0.00012	T	0.322368	0.06563	T	0.10993986	0.25990	0.09802004	0.23354	0.18965824	0.40516	0.10583506	0.25449	-5.319	0.40131	T	.	.	0.081	0.08176	B	.	.	0.442226	0.08122	4.854	0.83825151180814905	0.14941	0.18979	0.20479	N	AEFGBHCI	0.634145	0.61413	D	-1.3091462423902	0.03569	0.159694	-1.32216890523672	0.04145	0.194878	0.999999007721818	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.42	1.4	0.21393	0.775000	0.26351	-0.315000	0.10009	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2787:0.5869:0.1344:0.0	9.964	0.40883	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	0.02381	583.98	34	chr2	240868891	.	C	A	583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=747;ExcessHet=0.0000;FS=1.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=1.25;SOR=0.507	GT:AD:DP:GQ:PL	0/1:24,21:45:99:598,0,620	20	0	1	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/2:32,8,32:78:99:633,504,1577,0,595,567	0	0	1	0
chr3	14820728	14820728	G	A	exonic	FGD5	.	nonsynonymous SNV	FGD5:NM_001320276:exon1:c.G1657A:p.V553M	.	.	426	1091	4	1	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.983	D	0.521	P	0.000	D	0.643	N	1.115	L	-1.28	T	-0.512	T	0.365	T	0.174	1.077	9.396	4.18	1.146	5.270	9.736	0.280	0.0777356773622	0.0020	0.000998403	0.0018	0.0014	0.0011	0	0.0006	0.0027	0.0024	0.0004	0.001837	284	154602	rs61751585	0.0025	0.0026	0.0026	0.0025	0.0030	0.0025	0.0025	0.0029	0.0029	0.0008	0.0012	0.0024	0	0.0005	0.0021	0.0030	0.0022	0.0003	0.0019	0.0019	0.0020	0.0018	0.0034	0.0017	0.0017	0.0030	0.0029	0.0006	0	0.0008	0.0037	0	9.418e-05	0.0034	0.0034	0.0043	0.0008	0.063	0.36709	T	0.294	0.20745	T	0.983	0.60381	D	0.521	0.48239	P	0.000136	0.49741	D	0.000000	0.64285	0.30601	N	2.175	0.60977	M	-1.51	0.81399	D	-0.8	0.24460	N	0.468	0.57177	-0.5123	0.68202	T	0.365	0.72545	T	10	0.013870835	0.00293	T	0.077736	0.72842	D	0.280	0.59740	.	.	0.778677213717	0.77664	0.2386801752435745	0.23782	0.665287203776	0.59132	0.667751431465	0.62517	T	0.001168	0.00668	T	-0.356125	0.04353	T	-0.283922	0.46401	T	0.0168512957802432	0.00438	T	0.827517	0.49142	T	0.034883052	0.04001	0.058249347	0.10731	0.034883052	0.04001	0.058249347	0.10730	-4.925	0.36015	T	.	.	0.171	0.37464	B	.;.;.	.;.;.	3.227512	0.44003	21.8	0.99429039688840093	0.64179	0.93530	0.58468	D	AEFDBI	0.576026	0.57818	D	-0.0488978936362002	0.39651	2.341795	-0.0754952877638392	0.36406	2.118293	0.989188399120511	0.31747	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.05	4.18	0.48473	4.545000	0.60408	5.132000	0.47660	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.351000	0.25682	0.1567:0.0:0.8433:0.0	9.736	0.39553	923	0.18507	.;.;.	.	.	.	.	.	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	0.02381	1370.98	42	chr3	14820728	.	G	A	1370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=847;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=-3.600e-01;SOR=0.597	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1385,0,1355	20	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.003	N	0.870	D	0.69	N	-3.18	D	0.217	D	0.665	D	0.329	3.392	17.45	5.31	2.493	4.693	18.577	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	6188.68	230	chr3	15003967	.	C	G	6188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.434e+00;DP=4026;ExcessHet=9.6308;FS=254.962;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=2.28;SOR=13.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,54:203:99:0|1:15003967_C_G:325,0,4074:15003967	8	0	12	1
chr3	19518018	19518018	G	C	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon15:c.G2563C:p.V855L,	.	.	437	1041	44	0	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.006	B	0.235	U	1.000	D	0.895	L	-4.94	D	0.347	D	0.777	D	0.211	1.908	12.34	3.82	0.806	3.345	9.463	0.276	.	0.0050	0.00878594	0.0071	0.0013	0.0030	0.0093	0.0003	0.0057	0.0122	0.0202	0.0067464	1043	154602	rs148330866	0.0069	0.0069	0.0066	0.0072	0.0187	0.0068	0.0067	0.0180	0.0177	0.0013	0.0028	0.0089	0.0069	0.0004	0.0104	0.0064	0.0093	0.0187	0.0045	0.0045	0.0046	0.0043	0.0195	0.0042	0.0041	0.0163	0.0151	0.0015	0	0.0028	0.0092	0.0064	0.0002	0.0136	0.0058	0.0066	0.0195	0.449	0.09022	T	0.45	0.12957	T	0.004	0.12183	B	0.006	0.12133	B	0.235214	0.15833	U	0.319355	0.952348	0.26441	N	1.22	0.30592	L	-4.94	0.98409	D	-0.12	0.08809	N	0.442	0.48042	0.347	0.88289	D	0.777	0.92439	D	9	0.0077180862	0.00175	T	.	.	.	0.276	0.59253	.	.	0.819814452651	0.81811	0.3165417831225672	0.31567	0.0221848989643	0.02225	0.566369891167	0.48166	T	0.043438	0.26503	T	-0.276342	0.11059	T	-0.154786	0.58818	T	0.00441561722205172	0.00047	T	0.849515	0.53247	T	0.053219985	0.10038	0.05492728	0.09540	0.053219985	0.10038	0.05492728	0.09539	-3.412	0.15218	T	.	.	0.129	0.27553	B	.	.	2.551420	0.33023	19.22	0.97481368689112602	0.34188	0.90754	0.52198	D	AEFI	0.426222	0.49066	N	-0.214322457249247	0.32546	1.836586	-0.0371423809536064	0.38051	2.236427	5.53132372717157E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.66	3.82	0.43153	3.433000	0.52597	7.417000	0.58687	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0727:0.0:0.7821:0.1452	9.463	0.37962	667	0.61242	.	.	.	.	.	.	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	0.02381	752.98	36	chr3	19518018	.	G	C	752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.882;DP=763;ExcessHet=0.0000;FS=0.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-2.140e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/1:43,31:74:99:767,0,1067	20	0	1	0
chr3	27390041	27390041	G	A	exonic	SLC4A7	.	nonsynonymous SNV	SLC4A7:NM_001258379:exon21:c.C2866T:p.R956C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.875	H	-1.53	D	0.866	D	0.796	D	0.96	4.395	23.3	5.31	2.479	7.874	18.979	0.905	0.14159897657	.	0.000199681	8.261e-06	0	8.663e-05	0	0	0	0	0	1.29e-05	2	154602	rs529446183	2.055e-06	3.42e-06	0	4.131e-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	1.314e-05	1.313e-05	2.572e-05	0	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.145	0.97549	H	-1.53	0.81559	D	-6.96	0.93544	D	0.761	0.85872	0.866	0.95222	D	0.796	0.93079	D	10	0.8766935	0.86962	D	0.141599	0.82401	D	0.905	0.97398	0.749	0.87988	0.795957356658	0.79406	0.951974660305073	0.95181	1.16929503989	0.79715	0.838315606117	0.87839	D	0.918887	0.98532	D	0.391804	0.89434	D	0.407888	0.92367	D	0.999805510044098	0.99090	D	0.994141	0.98325	D	0.8102762	0.84572	0.67338943	0.80829	0.8102762	0.84573	0.67338943	0.80830	-10.922	0.81848	D	.	.	0.977	0.93792	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	6.099518	0.94558	34	0.99933833683436968	0.99535	0.98281	0.81223	D	AEFDGBI	0.943787	0.95006	D	0.978054203241148	0.95030	13.24704	0.870917952889596	0.94175	12.56112	0.999998790241497	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.31	5.31	0.75063	6.577000	0.73916	10.008000	0.83078	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.979	0.92724	479	0.77495	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;.;.;.;.;.;.;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal	.	.	.	.	.	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	0.02381	960.98	33	chr3	27390041	.	G	A	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.196;DP=774;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.939;SOR=0.597	GT:AD:DP:GQ:PL	0/1:57,46:103:99:975,0,1237	20	0	1	0
chr3	27484115	27484115	A	T	exonic	SLC4A7	.	nonsynonymous SNV	SLC4A7:NM_001258379:exon1:c.T12A:p.D4E	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.143	B	0.078	B	.	.	1.000	D	.	.	0.42	T	-0.972	T	0.176	T	0.06	0.724	7.850	-4.64	-0.463	-0.493	1.333	0.109	.	.	0.00159744	0.0091	0	0.0161	0	.	0	0	0.0123	0.0004657	72	154602	rs540556299	0.0004	0.0005	0.0002	0.0006	0.0084	0.0004	0.0004	0.0078	0.0076	3.884e-05	4.441e-05	0	0	0	0.0006	2.001e-06	0.0005	0.0084	0.0003	0.0003	0.0002	0.0004	0.0087	0.0002	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	1.478e-05	0	0.0087	0.302	0.14400	T	0.807	0.04054	T	0.033	0.20350	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	.	.	.	-1.01	0.77206	T	-0.44	0.15782	N	0.035	0.01004	-0.9724	0.36691	T	0.176	0.52084	T	8	0.004274696	0.00086	T	.	.	.	0.109	0.30843	0.198	0.11110	0.134007934775	0.12933	0.10936974850207638	0.10865	.	.	.	.	.	.	.	.	-0.41242	0.01916	T	-0.359216	0.38143	T	0.0661104297318798	0.08095	T	0.641836	0.26051	T	.	.	.	.	.	.	.	.	-2.387	0.06695	T	.	.	0.083	0.09191	B	.;.;.;.;.;.	.;.;.;.;.;.	1.619645	0.20688	14.86	0.9147042564089195	0.20741	0.12922	0.17560	N	AEFDBHCI	0.080541	0.16287	N	-0.744187625820136	0.14792	0.7398571	-0.733978276889623	0.16116	0.8510647	0.999999898532294	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.372554	0.06265	0	.	.	3.34	-4.64	0.03109	-0.009000	0.12703	1.320000	0.25596	0.557000	0.28285	0.988000	0.36536	1.000000	0.68203	0.046000	0.14843	0.2461:0.1845:0.3881:0.1812	1.333	0.02010	376	0.83959	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	459.98	33	chr3	27484115	.	A	T	459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=708;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=1.31;SOR=0.784	GT:AD:DP:GQ:PL	0/1:18,21:39:99:474,0,424	20	0	1	0
chr3	33175029	33175029	T	C	exonic	SUSD5	.	nonsynonymous SNV	SUSD5:NM_015551:exon4:c.A455G:p.Q152R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.059	B	0.066	B	0.000	D	0.988	D	0.55	N	-0.12	T	-0.928	T	0.146	T	0.222	3.160	16.57	4.56	0.989	4.549	10.573	0.081	0.0359806037627	.	.	8.294e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs778940476	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	3.826e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.113	0.36901	T	0.059	0.23051	B	0.066	0.27432	B	0.000028	0.55875	D	0.121779	0.988429	0.40761	D	0.895	0.22405	L	-0.12	0.64630	T	-1.82	0.42763	N	0.49	0.52386	-0.9276	0.44487	T	0.146	0.47111	T	10	0.18815765	0.34358	T	0.035981	0.56695	D	0.081	0.23632	0.468	0.54052	0.431931272081	0.42809	0.7168502763282004	0.71628	0.0714642106299	0.08001	0.483111053705	0.36485	T	0.061487	0.31667	T	-0.100742	0.36302	T	-0.382485	0.35432	T	0.47034007501867	0.31543	T	0.666633	0.27564	T	0.10036485	0.23698	0.15352881	0.36072	0.10036485	0.23698	0.15352881	0.36072	-8.062	0.61492	D	.	.	0.110	0.21353	B	.	.	3.210957	0.43707	21.8	0.99458943976195435	0.65684	0.97655	0.76193	D	AEFDBI	0.644003	0.62041	D	-0.148991172746052	0.35276	2.024259	0.0359006205214932	0.41396	2.486232	0.99670565492384	0.34942	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.72	4.56	0.55644	4.533000	0.60328	4.117000	0.41952	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0733:0.0:0.9267	10.573	0.44404	716	0.55970	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1450.98	42	chr3	33175029	.	T	C	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.510e+00;DP=922;ExcessHet=0.0000;FS=1.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=0.495;SOR=0.817	GT:AD:DP:GQ:PL	0/1:76,66:142:99:1465,0,1950	20	0	1	0
chr3	33865306	33865306	T	C	exonic	PDCD6IP	.	nonsynonymous SNV	PDCD6IP:NM_001162429:exon17:c.T2323C:p.S775P	.	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.0	B	0.0	B	0.267	N	1.000	N	-0.49	N	3.11	T	-0.963	T	0.008	T	0.063	2.337	13.77	-5.49	-1.040	-0.203	9.024	0.034	0.00384375306974	.	0.000599042	0.0005	9.899e-05	0	0	0	0.0001	0.0011	0.0031	0.000414	64	154602	rs571028506	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0021	0.0019	0	4.795e-05	0.0002	0	1.877e-05	0.0030	4.351e-05	0.0003	0.0023	0.0001	0.0001	0.0001	0.0002	0.0025	9.141e-05	7.698e-05	0.0014	0.0011	7.216e-05	0	0	0.0006	0	0	0	5.88e-05	0	0.0025	0.382	0.11120	T	0.456	0.12740	T	0.0	0.02946	B	0.0	0.01387	B	0.266625	0.15209	N	0.643694	1	0.08975	N	0.2	0.09183	N	3.11	0.08194	T	0.29	0.04161	N	0.097	0.07811	-0.9629	0.38625	T	0.008	0.02801	T	10	0.0035126805	0.00063	T	0.003844	0.08992	T	0.034	0.08419	.	.	0.117191471859	0.11215	0.19248375286468503	0.19166	0.121399189347	0.13675	0.367700874805	0.20502	T	0.003028	0.02432	T	-0.693563	0.00040	T	-0.773335	0.02660	T	0.00718645225803834	0.00082	T	0.522848	0.17081	T	0.07473212	0.16792	0.06384683	0.12709	0.07473212	0.16791	0.06384683	0.12709	-2.674	0.07919	T	.	.	0.076	0.07985	B	.;.	.;.	0.835638	0.12070	8.626	0.97265547640877059	0.33112	0.04462	0.10069	N	AEFBI	0.175873	0.30306	N	-1.19071029038422	0.05140	0.2336036	-1.16550537404407	0.06494	0.3127728	0.774140314662092	0.23723	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.64	-5.49	0.02381	-0.115000	0.10713	-1.073000	0.06414	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.4318:0.2456:0.3225	9.024	0.35380	511	0.75131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	730.98	39	chr3	33865306	.	T	C	730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.071e+00;DP=769;ExcessHet=0.0000;FS=8.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.289;SOR=0.457	GT:AD:DP:GQ:PL	0/1:37,32:69:99:745,0,999	20	0	1	0
chr3	38016567	38016567	C	T	exonic	PLCD1	.	nonsynonymous SNV	PLCD1:NM_001130964:exon3:c.G415A:p.A139T	Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2392878	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.862	P	0.764	P	0.000	D	1.000	D	2.595	M	-0.34	T	-0.127	T	0.413	T	0.484	4.895	28.1	3.3	2.281	4.032	12.076	0.431	0.0472243517035	.	0.000199681	3.419e-05	0	0	0	0	6.144e-05	0	0	4.53e-05	7	154602	rs576674144	1.71e-05	1.71e-05	1.634e-05	1.788e-05	0.0001	1.174e-05	9.92e-06	5.396e-05	4.042e-05	0	0	0	0	0	0	1.349e-05	1.656e-05	0.0001	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0002	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0.0002	0	0	5.881e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.565	0.38434	P	0.33	0.42079	B	0.000013	0.62929	D	0.112694	0.999862	0.51042	D	3.28	0.90206	M	-0.34	0.68474	T	-3.6	0.69357	D	0.44	0.47949	-0.1266	0.79481	T	0.413	0.76109	T	10	0.66490537	0.70370	D	0.047224	0.62824	D	0.431	0.73735	0.799	0.91874	0.832114414489	0.83052	0.5857191535782394	0.58501	0.372525074531	0.38744	0.451034426689	0.32085	T	0.789415	0.94514	D	-0.0496184	0.44507	T	-0.152684	0.59006	T	0.852343916893005	0.50369	D	0.726327	0.34071	T	0.4510655	0.64108	0.48853755	0.70404	0.4510655	0.64109	0.48853755	0.70405	-9.533	0.71064	D	0.5417880052819183	0.61135	0.182	0.53017	B	.;.	.;.	2.738956	0.35869	20.1	0.99905471450151206	0.97651	0.97580	0.75684	D	AEFBI	0.490362	0.52787	N	0.406359104145465	0.61773	4.382862	0.372748577841404	0.59888	4.170835	0.999999997853821	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.19	3.3	0.36912	4.107000	0.57547	1.438000	0.26503	0.599000	0.40250	0.999000	0.42656	0.271000	0.24048	0.842000	0.39752	0.0:0.9125:0.0:0.0875	12.076	0.52941	570	0.70478	.;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2966.98	34	chr3	38016567	.	C	T	2966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.365e+00;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=0.307;SOR=0.663	GT:AD:DP:GQ:PL	0/1:88,113:201:99:2981,0,2458	20	0	1	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/4:0,42,0,0,29:71:99:2900,1192,1191,2925,1260,2990,2925,1260,2990,2990,1738,0,1754,1754,1664	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/4:0,42,0,0,29:71:99:2900,1192,1191,2925,1260,2990,2925,1260,2990,2990,1738,0,1754,1754,1664	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/4:0,42,0,0,29:71:99:2900,1192,1191,2925,1260,2990,2925,1260,2990,2990,1738,0,1754,1754,1664	1	3	1	0
chr3	44910158	44910158	C	T	exonic	TGM4	.	stopgain	TGM4:NM_003241:exon11:c.C1396T:p.R466X,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	.	.	.	.	0.012	U	1.000	A	.	.	.	.	.	.	.	.	.	2.374	13.90	-5.2	-1.696	-1.276	0.968	.	.	0.0003	0.000199681	0.0006	0	0.0003	0	0	0.0003	0	0.0033	0.0005304	82	154602	rs140488025	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0003	0.0031	0.0029	2.987e-05	0.0002	3.826e-05	5.038e-05	1.872e-05	0.0023	0.0001	0.0005	0.0034	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0022	0.0018	0	0	0.0003	0	0	0	0.0034	0.0003	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	0.011705	0.01314	U	7.039270	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.016	0.00203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.204395	0.20173	T	-0.0694271	0.65667	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.349576	0.89743	31	0.84757834252972852	0.15480	0.00250	0.01379	N	AEFBI	0.015378	0.00290	N	-0.595360303893038	0.19084	0.9960876	-1.06098773345183	0.08479	0.4171154	0.998886083095601	0.37891	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.6	-5.2	0.02608	-1.114000	0.03404	-1.116000	0.06283	-0.339000	0.05715	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2638:0.1465:0.1316:0.4581	0.968	0.01322	408	0.82256	.	.	.	.	.	.	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	0.02381	1703.98	34	chr3	44910158	.	C	T	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=794;ExcessHet=0.0000;FS=5.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=-1.437e+00;SOR=1.234	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1718,0,1222	20	0	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	0/1:20,32,0:52:99:1284,0,719,1344,815,2159	2	7	11	0
chr3	46898097	46898097	C	T	exonic	PTH1R	.	nonsynonymous SNV	PTH1R:NM_001184744:exon6:c.C448T:p.R150C	Chondrodysplasia, Blomstrand type, Autosomal recessive;Eiken syndrome, Autosomal recessive;Failure of tooth eruption, primary, Autosomal dominant;Metaphyseal chondrodysplasia, Murk Jansen type, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	265484	Metaphyseal_chondrodysplasia,_Jansen_type|Chondrodysplasia_Blomstrand_type|Connective_tissue_disorder|not_specified|not_provided	MONDO:MONDO:0007982,MedGen:C0265295,OMIM:156400,Orphanet:33067|MONDO:MONDO:0008970,MedGen:C1859148,OMIM:215045,Orphanet:50945|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.806	P	.	.	0.949	D	0.895	L	-0.06	T	-0.693	T	0.220	T	0.819	3.313	17.14	1.91	1.065	-0.043	8.194	0.414	0.0631962078726	0.0022	0.000399361	0.0019	0.0006	0.0002	0	0	0.0025	0.0011	0.0028	0.0018564	287	154602	rs121434601	0.0022	0.0022	0.0022	0.0022	0.0026	0.0022	0.0021	0.0025	0.0025	0.0002	0.0004	3.826e-05	0	0.0004	0.0007	0.0026	0.0013	0.0024	0.0016	0.0016	0.0017	0.0014	0.0029	0.0014	0.0013	0.0025	0.0024	0.0004	0	0.0008	0	0	0.0002	0	0.0029	0.0019	0.0019	0.148	0.35537	T	0.196	0.27943	T	0.967	0.56408	D	0.806	0.58437	P	.	.	.	.	0.949065	0.37636	D	1.445	0.36358	L	-0.06	0.63568	T	-1.68	0.40082	N	0.825	0.82761	-0.6930	0.60768	T	0.220	0.58345	T	9	0.015131831	0.00318	T	0.063196	0.68891	D	0.414	0.72479	.	.	0.854324078055	0.85292	0.7149756529487792	0.71440	1.1876170878	0.80188	0.360968738794	0.19527	T	0.478018	0.80802	T	-0.215914	0.18553	T	-0.0865998	0.64417	T	0.0278537265623953	0.01666	T	0.936406	0.76145	D	0.29750484	0.52679	0.27216354	0.53124	0.38859153	0.59932	0.23512307	0.48746	-8.295	0.63062	D	0.15742198140696453	0.19008	0.308	0.53579	B	.;.;.;.;.	.;.;.;.;.	4.283450	0.65264	24.8	0.99803034954086223	0.88728	0.24173	0.22310	N	AEFDBHCI	0.579242	0.58012	D	-0.0200275438860086	0.40949	2.440791	-0.080466867643009	0.36199	2.103562	0.999885050981036	0.44867	0.764865	0.99124	0	0.615948	0.52940	0	0.731555	0.93304	0	0.567892	0.33627	0	.	.	5.05	1.91	0.24841	-0.072000	0.11446	3.267000	0.37132	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.956000	0.50813	0.3105:0.5516:0.1379:0.0	8.194	0.30546	110	0.95498	GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain;GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	4297.98	34	chr3	46898097	.	C	T	4297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.05;DP=1088;ExcessHet=0.0000;FS=5.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.50;SOR=0.803	GT:AD:DP:GQ:PL	0/1:204,161:365:99:4312,0,5138	20	0	1	0
chr3	48586607	48586607	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon26:c.G3359A:p.R1120K,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	0	1513	9	0	0	9	0.0029654	.	.	698155	not_provided|COL7A1-related_disorder|Epidermolysis_bullosa_dystrophica|Recessive_dystrophic_epidermolysis_bullosa|Transient_bullous_dermolysis_of_the_newborn|Epidermolysis_bullosa_pruriginosa|Pretibial_dystrophic_epidermolysis_bullosa|Nonsyndromic_congenital_nail_disorder_8|Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin|Generalized_dominant_dystrophic_epidermolysis_bullosa|Epidermolysis_bullosa_dystrophica_inversa,_autosomal_recessive	MedGen:C3661900|.|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600,Orphanet:79408,Orphanet:79409|MONDO:MONDO:0007548,MedGen:C1851573,OMIM:131705,Orphanet:79411|MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843|Human_Phenotype_Ontology:HP:0012221,MONDO:MONDO:0007552,MedGen:C0432321,OMIM:131850,Orphanet:79410|MONDO:MONDO:0011852,MedGen:C1843761,OMIM:607523|MONDO:MONDO:0007557,MedGen:C0268371,OMIM:132000|MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750,Orphanet:231568|MedGen:C2673612	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.129	N	1.000	N	-0.695	N	-1.64	D	-0.922	T	0.129	T	0.12	1.798	11.97	0.953	0.319	1.046	8.012	0.158	0.0428427375251	0.0036	0.000399361	0.0031	0.0010	0.0011	0	0.0008	0.0045	0.0011	0.0028	0.0031759	491	154602	rs2228563	0.0038	0.0038	0.0038	0.0037	0.0042	0.0037	0.0037	0.0041	0.0041	0.0004	0.0017	0.0108	0	0.0008	0.0014	0.0042	0.0032	0.0026	0.0028	0.0028	0.0031	0.0024	0.0046	0.0025	0.0025	0.0042	0.0040	0.0006	0	0.0017	0.0095	0	0.0008	0	0.0046	0.0033	0.0025	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.128815	0.18717	N	0.444591	0.999922	0.19486	N	-1.52	0.00491	N	-1.64	0.82533	D	-0.16	0.09460	N	0.067	0.03956	-0.9222	0.45252	T	0.129	0.43848	T	10	0.004688561	0.00099	T	0.042843	0.60676	D	0.158	0.41098	.	.	0.590580555975	0.58733	0.5209445040255901	0.52017	0.252606816246	0.27827	0.321070939302	0.13585	T	0.221373	0.58492	T	-0.462681	0.00946	T	-0.436295	0.29224	T	0.00147749710570117	0.00015	T	0.423058	0.11286	T	0.14405924	0.33084	0.110729136	0.26702	0.14405924	0.33083	0.110729136	0.26701	-5.486	0.41737	T	0.09265633509580304	0.06011	0.070	0.03301	B	.	.	1.981291	0.25168	16.67	0.85344031077056537	0.15834	0.06857	0.12882	N	AEFGBCI	0.067384	0.13243	N	-0.964036264959286	0.09380	0.4436986	-0.734259174235576	0.16110	0.8506608	0.947065137571176	0.27735	0.661447	0.50134	0	0.53679	0.11191	0	0.644132	0.48003	0	0.542086	0.14980	0	.	.	4.98	0.953	0.18714	1.051000	0.30027	3.262000	0.37098	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.2569:0.0:0.7431	8.012	0.29520	11	0.98996	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1388.98	34	chr3	48586607	.	C	T	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=807;ExcessHet=0.0000;FS=5.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-2.218e+00;SOR=1.227	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1403,0,1358	20	0	1	0
chr3	48592819	48592819	G	A	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon7:c.C802T:p.P268S,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	1	1510	11	0	0	11	0.00362917	.	.	295334	COL7A1-related_disorder|not_provided|Epidermolysis_bullosa_dystrophica_inversa,_autosomal_recessive|Recessive_dystrophic_epidermolysis_bullosa|Transient_bullous_dermolysis_of_the_newborn|Generalized_dominant_dystrophic_epidermolysis_bullosa|Pretibial_dystrophic_epidermolysis_bullosa|Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin|Nonsyndromic_congenital_nail_disorder_8|Epidermolysis_bullosa_pruriginosa|Epidermolysis_bullosa_dystrophica	.|MedGen:C3661900|MedGen:C2673612|MONDO:MONDO:0009179,MedGen:C0079474,OMIM:226600,Orphanet:79408,Orphanet:79409|MONDO:MONDO:0007548,MedGen:C1851573,OMIM:131705,Orphanet:79411|MONDO:MONDO:0007549,MedGen:C0432322,OMIM:131750,Orphanet:231568|Human_Phenotype_Ontology:HP:0012221,MONDO:MONDO:0007552,MedGen:C0432321,OMIM:131850,Orphanet:79410|MONDO:MONDO:0007557,MedGen:C0268371,OMIM:132000|MONDO:MONDO:0011852,MedGen:C1843761,OMIM:607523|MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.971	D	0.001	D	0.999	D	1.71	L	0.4	T	-0.550	T	0.216	T	0.508	1.688	11.60	4.31	2.136	7.206	14.436	0.395	0.0871801708063	0.0036	0.000399361	0.0031	0.0010	0.0011	0	0.0008	0.0045	0.0011	0.0032	0.00315	487	154602	rs35623035	0.0038	0.0038	0.0039	0.0038	0.0042	0.0037	0.0037	0.0041	0.0041	0.0004	0.0017	0.0108	0	0.0008	0.0014	0.0042	0.0032	0.0030	0.0028	0.0028	0.0031	0.0023	0.0045	0.0025	0.0024	0.0041	0.0040	0.0006	0	0.0017	0.0095	0	0.0008	0	0.0045	0.0033	0.0025	0.007	0.59928	D	0.0	0.92824	D	0.999	0.77913	D	0.971	0.72444	D	0.000819	0.41658	D	0.000000	0.998648	0.45212	D	1.84	0.48285	L	0.4	0.57261	T	-2.22	0.49846	N	0.639	0.65159	-0.5503	0.66775	T	0.216	0.57836	T	10	0.011737943	0.00255	T	0.08718	0.74884	D	0.395	0.71004	.	.	0.812661891187	0.81090	0.40786196069289565	0.40702	0.252204158462	0.27787	0.490709841251	0.37537	T	0.219956	0.58310	T	-0.31148	0.07618	T	-0.219105	0.52824	T	0.0361176411465149	0.03000	T	0.79972	0.44511	T	0.30195653	0.53080	0.32302374	0.58238	0.30195653	0.53080	0.32302374	0.58237	-7.721	0.59154	D	.	.	0.184	0.39915	B	.	.	4.304214	0.65746	24.9	0.92720303940524817	0.22218	0.94845	0.62529	D	AEFDGBHCI	0.877292	0.80183	D	0.620813809540143	0.74492	6.142015	0.574933740817397	0.73149	5.923295	0.999999999699786	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.31	4.31	0.50718	7.325000	0.78398	11.410000	0.92689	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.1479:0.8521:0.0	14.436	0.66857	10	0.99061	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1588.98	36	chr3	48592819	.	G	A	1588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=2.40;SOR=0.672	GT:AD:DP:GQ:PL	0/1:91,62:153:99:1603,0,2275	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.051	B	0.067	B	0.079	N	1.000	N	0.625	N	0.79	T	-1.048	T	0.055	T	0.209	0.271	5.467	2.19	0.751	0.448	6.116	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	37	chr3	49271371	.	C	T	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.340;DP=757;ExcessHet=0.0000;FS=4.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=0.674;SOR=1.306	GT:AD:DP:GQ:PL	0/1:34,32:66:99:885,0,874	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	1/2:0,35,41:76:99:3157,1694,1656,1467,0,1343	0	4	6	0
chr3	49510792	49510792	G	C	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon2: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	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A9|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2P|not_specified|not_provided|DAG1-related_disorder	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	.	.	.	.	.	.	.	.	0.21	T	0.001	B	0.001	B	0.010	N	0.792	D	0.41	N	0.46	T	0.320	D	0.728	D	0.297	2.067	12.87	4.3	0.897	1.228	5.342	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	488.98	42	chr3	49510792	.	G	C	488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.866;DP=997;ExcessHet=0.0000;FS=5.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=0.677;SOR=1.599	GT:AD:DP:GQ:PL	0/1:41,21:62:99:503,0,1107	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	B	0.062	B	0.001	D	1.000	D	1.245	L	1.43	T	-1.099	T	0.083	T	0.421	2.493	14.30	5.88	2.797	4.345	20.241	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2030.98	39	chr3	49967940	.	C	T	2030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.078e+00;DP=845;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.62;ReadPosRankSum=2.20;SOR=0.793	GT:AD:DP:GQ:PL	0/1:55,75:130:99:2045,0,1525	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	D	0.985	D	0.000	D	1.000	D	0.805	L	1.15	T	-0.978	T	0.157	T	0.79	3.249	16.90	6.04	2.873	4.840	13.733	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2026.98	39	chr3	49968422	.	G	A	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.650;DP=866;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-2.300e-02;SOR=0.697	GT:AD:DP:GQ:PL	0/1:74,76:150:99:2041,0,1954	20	0	1	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	0/2:12,0,14:26:99:543,579,1083,0,504,461	5	0	8	1
chr3	52487749	52487749	A	G	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon16:c.A2257G:p.I753V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.15	B	0.019	B	0.006	N	1.000	N	0.345	N	3.32	T	-0.986	T	0.011	T	0.315	2.284	13.59	4.16	2.022	2.800	7.984	0.050	0.00279735045398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.132	0.34477	T	0.15	0.27995	B	0.019	0.18783	B	0.006028	0.32324	N	0.339185	0.99873	0.21949	N	0.425	0.12573	N	3.32	0.06214	T	-0.24	0.10833	N	0.204	0.24510	-0.9855	0.33711	T	0.011	0.04134	T	10	0.10483506	0.19347	T	0.002797	0.05840	T	0.050	0.13987	0.223	0.14665	0.193917141947	0.19028	0.2201109267842847	0.21927	0.356583982339	0.37398	0.555441260338	0.46625	T	0.058508	0.30862	T	-0.198028	0.21090	T	-0.52223	0.20068	T	0.178079292178154	0.19113	T	0.623938	0.24053	T	0.02545984	0.01487	0.042591594	0.05107	0.02545984	0.01486	0.042591594	0.05107	-3.028	0.10486	T	.	.	0.170	0.42678	B	.;.	.;.	2.465828	0.31770	18.84	0.99371491919624333	0.61455	0.73236	0.35826	D	AEFDBCI	0.352075	0.44496	N	-0.138440277730803	0.35728	2.055899	0.0485417247188367	0.42001	2.532959	0.780644773517117	0.23836	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.3	4.16	0.48138	2.601000	0.45912	7.004000	0.57207	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8458:0.0:0.1542:0.0	7.984	0.29364	75	0.96833	.;.	.	.	.	.	.	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	0.02632	148.72	144	chr3	52487749	.	A	G	148.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.760e+00;DP=1367;ExcessHet=0.0000;FS=163.184;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=1.64;SOR=7.613	GT:AD:DP:GQ:PL	0/1:105,44:149:99:162,0,1818	18	0	1	2
chr3	52492357	52492357	G	A	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon21:c.G4390A:p.G1464S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.307	B	0.031	B	0.044	N	1.000	D	0.55	N	3.22	T	-1.037	T	0.012	T	0.407	2.639	14.78	4.49	2.535	3.509	5.087	0.052	0.00842049434707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1166000318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.192	0.20988	T	0.219	0.25987	T	0.307	0.32716	B	0.031	0.21939	B	0.043832	0.23700	N	0.453330	0.552476	0.32144	D	-0.345	0.03330	N	3.22	0.07024	T	-0.93	0.24898	N	0.101	0.08366	-1.0370	0.18233	T	0.012	0.04558	T	10	0.118682295	0.22443	T	0.00842	0.22282	T	0.052	0.14661	0.176	0.08257	0.259504319725	0.25562	0.20353279088494128	0.20270	1.25351651058	0.81861	0.399515002966	0.25000	T	0.059506	0.31133	T	-0.160149	0.26738	T	-0.467819	0.25751	T	0.858990728855133	0.50959	D	0.773923	0.40554	T	0.0852464	0.19765	0.07067802	0.15045	0.0852464	0.19764	0.07067802	0.15044	-3.678	0.18994	T	.	.	0.098	0.17060	B	.;.	.;.	3.565120	0.50180	22.9	0.98865492285056678	0.47545	0.90752	0.52194	D	AEFDBI	0.220611	0.34534	N	-0.0691117748420782	0.38753	2.275	0.10037400512614	0.44569	2.736075	0.999989230221593	0.51787	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.37	4.49	0.54177	4.071000	0.57275	8.613000	0.77777	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.2883:0.0:0.7117:0.0	5.087	0.14019	84	0.96491	.;.	.	.	.	.	.	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	0.02381	1732.98	41	chr3	52492357	.	G	A	1732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.99;ReadPosRankSum=-6.450e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/1:41,61:102:99:1747,0,1062	20	0	1	0
chr3	52746802	52746802	G	A	exonic	NEK4	.	nonsynonymous SNV	NEK4:NM_001193533:exon8:c.C1342T:p.R448W	.	.	.	.	.	.	.	.	.	.	.	2448285	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.786	P	0.229	B	0.000	D	0.869	N	2.255	M	2.27	T	-0.675	T	0.262	T	0.191	1.419	10.68	-0.251	0.015	0.155	3.671	0.067	0.0554642479614	.	.	8.238e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs377177784	2.531e-05	2.531e-05	2.45e-05	2.613e-05	0.0002	1.868e-05	1.631e-05	6.511e-05	4.449e-05	0	4.472e-05	0	0.0002	0	0	1.889e-05	6.624e-05	4.638e-05	1.973e-05	1.971e-05	2.571e-05	1.347e-05	0.0002	5.25e-06	2.46e-06	.	.	0	0	6.551e-05	0	0.0002	0	0	1.47e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	0.12	0.44460	B	0.027	0.38155	B	0.000076	0.52346	D	0.000000	0.868519	0.28244	N	1.975	0.53506	M	2.27	0.75911	T	-3.98	0.77061	D	0.227	0.29081	-0.6748	0.61611	T	0.262	0.63307	T	10	0.17551365	0.32487	T	0.055464	0.66244	D	0.067	0.19503	0.188	0.09776	0.729145954359	0.72674	0.25017898902043684	0.24931	0.148983051585	0.16801	0.408049046993	0.26187	T	0.119104	0.44040	T	-0.205738	0.19983	T	-0.351777	0.39000	T	0.359744668006897	0.27399	T	0.890411	0.62654	D	0.4041745	0.61020	0.2255773	0.47507	0.4041745	0.61021	0.2255773	0.47506	-6.113	0.47215	T	.	.	0.133	0.52929	B	.;.;.;.	.;.;.;.	2.484311	0.32044	18.92	0.96320744528310576	0.29413	0.52409	0.29125	D	AEFDGBI	0.204081	0.33055	N	-0.513525861383494	0.21643	1.150039	-0.550086924620015	0.20805	1.122538	2.68771257709041E-4	0.06244	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	-0.251	0.12361	0.041000	0.13813	4.342000	0.43061	-0.105000	0.15698	0.252000	0.24869	1.000000	0.68203	0.803000	0.37862	0.3772:0.0:0.2651:0.3577	3.671	0.07809	29	0.98227	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1141.98	33	chr3	52746802	.	G	A	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=811;ExcessHet=0.0000;FS=2.407;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=0.354;SOR=0.865	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1156,0,1598	20	0	1	0
chr3	53876082	53876082	-	GGGG	splicing	ACTR8	NM_022899:exon7:c.779-2->CCCC	.	.	.	.	440	839	208	22	13	265	0.13057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	9.259e-05	0	0	0	0	0	0.0001811	28	154602	rs370490982	0.0002	0.0002	0.0002	0.0001	0.0056	0.0001	0.0001	0.0049	0.0047	0.0056	0.0003	0	0	0	0.0005	6.407e-06	0.0005	3.588e-05	0.0024	0.0025	0.0023	0.0024	0.0082	0.0022	0.0021	0.0075	0.0072	0.0082	0	0.0014	0	0	0	0	1.497e-05	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	9238.32	34	chr3	53876082	.	T	TG,TGGGG	9238.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.075;DP=1434;ExcessHet=0.9430;FS=1.872;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-6.550e-01;SOR=0.551	GT:AD:DP:GQ:PL	1/1:2,57,0:63:99:1647,130,0,1628,217,1770	13	1	6	0
chr3	73062271	73062271	G	A	exonic	EBLN2	.	nonsynonymous SNV	EBLN2:NM_018029:exon1:c.G190A:p.A64T,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.046	B	0.004	B	.	.	1.000	N	0	N	.	.	-1.027	T	0.039	T	0.114	-0.077	3.622	0.225	0.300	0.364	.	0.007	0.00175309157425	8.1e-05	.	8.058e-05	0.0001	0.0001	0	0	9.005e-05	0	7.287e-05	6.47e-05	10	154602	rs376896494	5.027e-05	4.994e-05	4.384e-05	5.677e-05	0.0005	4.086e-05	3.758e-05	0.0001	7.591e-05	6.099e-05	7.259e-05	0	0	0	0.0005	4.687e-05	8.337e-05	9.485e-05	3.945e-05	3.941e-05	3.856e-05	4.037e-05	7.244e-05	1.716e-05	1.13e-05	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	4.41e-05	0	0	0.267	0.16198	T	0.314	0.19480	T	0.046	0.21875	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.24	0.10833	N	0.078	0.05287	-1.0270	0.21429	T	0.039	0.16720	T	7	0.041474223	0.02807	T	0.001753	0.02960	T	0.007	0.00512	.	.	0.0806252709748	0.07271	0.010099566507114544	0.00971	0.0157190196081	0.01500	0.360490292311	0.19457	T	0.002194	0.01594	T	-0.419732	0.01717	T	-0.625357	0.10769	T	0.0103880054834482	0.00143	T	0.29867	0.05569	T	0.09149671	0.21441	0.11802871	0.28492	0.09149671	0.21441	0.11802871	0.28491	-3.763	0.20253	T	.	.	0.093	0.14062	B	.	.	0.309527	0.06847	3.376	0.5676577373514472	0.05623	0.02284	0.06582	N	AEFDBHCI	0.023972	0.01412	N	-1.22196556187569	0.04682	0.2118573	-1.31359150866858	0.04253	0.2002442	0.963295414006762	0.28681	0.562547	0.31514	0	0.653731	0.59785	0	0.486962	0.07600	0	0.635551	0.53088	0	.	.	0.225	0.225	0.14598	0.365000	0.20076	-0.096000	0.11999	0.373000	0.20310	0.006000	0.17386	0.002000	0.18203	0.004000	0.06068	.	.	.	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1525.98	115	chr3	73062271	.	G	A	1525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=2217;ExcessHet=0.0000;FS=4.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-1.367e+00;SOR=0.350	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1540,0,1404	20	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	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,39:118:99:0|1:75730450_C_T:1380,0,3119:75730450	0	0	20	1
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,21:121:99:0|1:75736891_G_A:519,0,4033:75736891	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,18:128:99:0|1:75736891_G_A:425,0,4565:75736891	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,16:125:99:0|1:75736891_G_A:344,0,4529:75736891	0	0	21	0
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:107,15:122:3:3,0,3304	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:121,37:158:99:434,0,4407	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,37:160:99:0|1:75737092_C_T:1183,0,5033:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,37:158:99:0|1:75737092_C_T:1189,0,4969:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,35:145:99:0|1:75737092_C_T:1139,0,4514:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,25:137:99:0|1:75737127_A_C:713,0,4628:75737127	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,16:125:99:0|1:75737127_A_C:344,0,4464:75737127	0	0	21	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,48:141:99:.:.:1616,0,3674	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,59:169:99:0|1:75737590_A_G:2126,0,4441:75737590	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,61:174:99:0|1:75737590_A_G:2221,0,4561:75737590	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,64:184:99:0|1:75737590_A_G:2326,0,4846:75737590	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,59:178:99:0|1:75737590_A_G:2119,0,4819:75737590	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,53:159:99:0|1:75737590_A_G:1906,0,4291:75737590	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,36:169:99:0|1:75737814_C_T:1062,0,5077:75737814	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,22:154:99:0|1:75737881_T_C:441,0,5335:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,17:150:99:0|1:75737881_T_C:313,0,5503:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,19:153:99:0|1:75737881_T_C:374,0,5555:75737881	0	0	21	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,14:206:10:0|1:75737994_T_C:10,0,7970:75737994	3	0	15	3
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:107,12:119:12:12,0,3004	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:60,25:85:99:452,0,1603	0	0	21	0
chr3	78635999	78635999	C	G	exonic	ROBO1	.	nonsynonymous SNV	ROBO1:NM_133631:exon21:c.G3012C:p.E1004D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994	D	0.98	D	0.000	D	1.000	D	1.21	L	0.08	T	-0.574	T	0.323	T	0.881	3.681	18.71	4.95	2.760	1.398	15.268	0.299	0.0184739262062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.285	0.22223	T	0.129	0.27048	B	0.017	0.18140	B	0.000000	0.84330	D	0.000000	0.999874	0.81001	D	1.3	0.32576	L	-0.14	0.65006	T	-0.48	0.15379	N	0.681	0.85872	-0.5740	0.65856	T	0.323	0.69212	T	9	0.51534003	0.62333	D	0.018474	0.40544	T	0.299	0.61955	0.276	0.22845	0.725575895725	0.72314	0.4363927623519087	0.43556	0.385509509165	0.39847	0.832643508911	0.86968	D	0.089484	0.38381	T	0.243285	0.77971	D	0.111685	0.77684	D	0.880515336990356	0.53053	D	0.918108	0.70532	D	0.22721666	0.45418	0.17843194	0.40511	0.22721666	0.45418	0.17843194	0.40511	-3.459	0.15863	T	.	.	0.517	0.65679	A	.;.;.;.;.	.;.;.;.;.	3.746743	0.53679	23.4	0.99791699033783055	0.87750	0.97721	0.76654	D	AEFGBI	0.518753	0.54432	D	0.324147789907383	0.57389	3.906178	0.406543260201941	0.61973	4.405	0.99979840680322	0.43153	0.693126	0.56070	0	0.670034	0.63936	0	0.643519	0.47002	0	0.564101	0.26826	0	.	.	5.83	4.95	0.64894	1.558000	0.35917	3.301000	0.37383	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.932:0.0:0.0679	15.268	0.73374	726	0.54788	.;.;.;.;.	.	.	.	.	.	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	0.02381	2135.98	36	chr3	78635999	.	C	G	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.890e-01;DP=848;ExcessHet=0.0000;FS=2.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-9.120e-01;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,60:140:99:0|1:78635999_C_G:2150,0,3016:78635999	20	0	1	0
chr3	78636022	78636022	C	G	exonic	ROBO1	.	nonsynonymous SNV	ROBO1:NM_133631:exon21:c.G2989C:p.D997H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.998	D	0.000	D	1.000	D	2.015	M	-0.03	T	-0.185	T	0.485	T	0.925	4.274	22.3	5.83	2.760	7.481	20.188	0.568	0.075943623554	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362349763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.007	0.70582	D	0.964	0.55854	D	0.85	0.60657	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	-0.42	0.69536	T	-3.83	0.72120	D	0.919	0.96984	-0.1846	0.78064	T	0.485	0.80380	T	9	0.8028444	0.79662	D	0.075944	0.72411	D	0.568	0.82403	0.401	0.43081	0.874461143817	0.87323	0.6700011757709224	0.66938	0.172477267296	0.19426	0.871970117092	0.92849	D	0.57956	0.86210	D	0.364	0.87554	D	0.285085	0.87394	D	0.98997962474823	0.80191	D	0.974303	0.90829	D	0.6686501	0.76360	0.7567971	0.85628	0.6686501	0.76361	0.7567971	0.85628	-8.551	0.64766	D	.	.	0.871	0.80976	P	.;.;.;.;.	.;.;.;.;.	4.449201	0.69149	25.3	0.99579719261836652	0.72921	0.99513	0.96930	D	AEFGBI	0.884537	0.81429	D	0.637129451586293	0.75538	6.323737	0.693572481651574	0.81888	7.633738	0.999999999917185	0.74766	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.668105	0.65232	0	.	.	5.83	5.83	0.93059	7.562000	0.81274	7.713000	0.66906	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.188	0.98225	726	0.54788	.;.;.;.;.	.	.	.	.	.	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	0.02381	2005.98	36	chr3	78636022	.	C	G	2005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=834;ExcessHet=0.0000;FS=4.279;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=-1.523e+00;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,56:129:99:0|1:78635999_C_G:2020,0,2872:78635999	20	0	1	0
chr3	98817819	98817819	C	T	exonic	DCBLD2	.	nonsynonymous SNV	DCBLD2:NM_080927:exon9:c.G1162A:p.D388N,	.	.	432	1086	4	0	0	4	0.00183824	.	.	3213343	DCBLD2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.74	T	1.0	D	0.999	D	0.000	D	1.000	D	0.81	L	-5.32	D	-0.936	T	0.150	T	0.268	2.943	15.81	5.72	2.865	7.008	17.733	0.112	0.080029994204	0.0010	0.00159744	0.0015	0.0001	0.0019	0	0.0011	0.0023	0.0011	0	0.0014748	228	154602	rs149988957	0.0013	0.0013	0.0012	0.0013	0.0017	0.0012	0.0012	0.0014	0.0014	0.0002	0.0017	0.0006	0	0.0008	0.0014	0.0015	0.0010	4.638e-05	0.0014	0.0014	0.0015	0.0014	0.0031	0.0013	0.0012	0.0024	0.0022	0.0002	0	0.0031	0.0003	0	0.0012	0	0.0021	0.0019	0.0002	0.498	0.09836	T	0.283	0.21545	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.26	0.31868	L	-5.32	0.98988	D	-1.39	0.35991	N	0.873	0.87049	-0.9362	0.43211	T	0.150	0.47681	T	10	0.058354497	0.06847	T	0.08003	0.73369	D	0.645	0.86536	.	.	0.972282103216	0.97198	0.796986005296395	0.79651	0.222960362883	0.24822	0.46647760272	0.34198	T	0.323633	0.69453	T	-0.171669	0.24982	T	-0.0252251	0.68684	D	0.0389043042269048	0.03493	T	0.868713	0.57175	D	0.2988864	0.52805	0.17662401	0.40209	0.2988864	0.52805	0.17662401	0.40209	-3.849	0.21538	T	.	.	0.079	0.09675	B	.;.	.;.	3.897991	0.56761	23.8	0.99560814760174099	0.71769	0.92252	0.55286	D	ALL	0.829174	0.74813	D	0.389832072917966	0.60871	4.280905	0.518896673247016	0.69263	5.33544	1.0	0.98316	0.743674	0.98306	0	0.688826	0.66785	0	0.630245	0.45026	0	0.723	0.93126	0	.	.	5.72	5.72	0.89380	7.092000	0.76589	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.733	0.88292	808	0.43318	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;.	.	.	.	.	.	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	0.02381	1137.98	42	chr3	98817819	.	C	T	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.151;DP=802;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=0.457;SOR=0.480	GT:AD:DP:GQ:PL	0/1:29,46:75:99:1152,0,633	20	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,14:32:99:.:.:104,0,246	4	0	17	0
chr3	109330583	109330583	G	A	exonic	DPPA4	.	nonsynonymous SNV	DPPA4:NM_001348928:exon5:c.C464T:p.A155V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	P	0.106	B	0.177	N	1.000	N	1.055	L	0.69	T	-0.914	T	0.092	T	0.155	1.545	11.12	-0.021	-0.016	0.108	13.714	0.095	0.0120361047287	.	.	7.448e-05	0	8.642e-05	0	0	0.0001	0	6.056e-05	5.82e-05	9	154602	rs201448153	9.098e-05	9.098e-05	9.801e-05	8.388e-05	0.0001	7.823e-05	7.305e-05	9.291e-05	8.698e-05	0	2.236e-05	0	5.038e-05	0	0	0.0001	0.0001	2.319e-05	1.316e-05	1.314e-05	2.572e-05	0	6.554e-05	2.19e-06	8.2e-07	.	.	0	0	6.554e-05	0	0	0	0	1.471e-05	0	0	0.028	0.46129	D	0.054	0.47097	T	0.465	0.36447	P	0.033	0.22329	B	0.176685	0.03152	N	1.657340	0.999913	0.19599	N	2.07	0.56829	M	0.69	0.51714	T	-3.17	0.64363	D	0.263	0.29774	-0.9141	0.46338	T	0.092	0.34983	T	9	0.24623531	0.41884	T	0.012036	0.30251	T	0.095	0.27398	0.444	0.50139	0.43848807779	0.43467	0.18085071281490878	0.18004	0.0924723573762	0.10434	0.414556384087	0.27086	T	0.462533	0.79885	T	-0.330652	0.06063	T	-0.487033	0.23703	T	0.186117172241211	0.19613	T	0.680032	0.28847	T	0.21373661	0.43760	0.17371295	0.39716	0.21373661	0.43760	0.17371295	0.39715	-4.702	0.33428	T	.	.	0.328	0.55067	B	.	.	2.011733	0.25564	16.81	0.98825432372745214	0.46852	0.11202	0.16476	N	AEFDBCI	0.071757	0.14298	N	-0.634524080444382	0.17914	0.9258899	-0.700686630337381	0.16943	0.8986913	0.777991148915471	0.23786	0.645754	0.44609	0	0.573888	0.26702	0	0.696144	0.63334	0	0.564101	0.26826	0	.	.	4.04	-0.021	0.13278	0.146000	0.16000	1.225000	0.25003	0.614000	0.49286	0.114000	0.23067	0.017000	0.20586	0.685000	0.33688	0.0:0.6326:0.3674:0.0	13.714	0.62166	883	0.28872	Developmental pluripotency-associated protein 2/4, central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1301.98	36	chr3	109330583	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.723;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=-1.822e+00;SOR=0.635	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1316,0,1415	20	0	1	0
chr3	112469802	112469802	T	C	exonic	BTLA	.	nonsynonymous SNV	BTLA:NM_001085357:exon3:c.A406G:p.K136E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.106	B	0.048	B	0.216	N	1.000	N	0.55	N	1.66	T	-1.046	T	0.047	T	0.128	-0.176	3.142	-1.0	-0.153	0.048	7.330	0.010	0.00527680408673	7.7e-05	0.000199681	0.0001	9.75e-05	8.666e-05	0	0	0.0002	0	0	0.0001229	19	154602	rs144502753	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0	4.482e-05	0	0	0	0.0005	0.0001	0.0002	0	7.89e-05	7.876e-05	5.147e-05	0.0001	0.0001	4.499e-05	3.514e-05	6.807e-05	5.089e-05	2.412e-05	0	6.551e-05	0	0	0	0	0.0001	0.0005	0	0.145	0.25154	T	0.279	0.21745	T	0.034	0.26037	B	0.017	0.24975	B	0.216443	0.16241	N	0.540328	0.999997	0.08975	N	0.55	0.14455	N	1.66	0.35405	T	-1.49	0.47852	N	0.088	0.09490	-1.0458	0.15592	T	0.047	0.20195	T	10	0.030996233	0.01288	T	0.005277	0.13494	T	0.010	0.01040	.	.	0.40722173914	0.40337	0.45948136135929807	0.45866	0.876777066871	0.69606	0.290274947882	0.08962	T	0.162769	0.50756	T	-0.46854	0.00868	T	-0.631366	0.10312	T	0.0124355415130347	0.00204	T	0.50065	0.15660	T	0.09857882	0.23254	0.07743742	0.17249	0.09857882	0.23253	0.07743742	0.17248	-5.208	0.39023	T	.	.	0.108	0.20313	B	.;.	.;.	0.482670	0.08519	5.283	0.57286884161336205	0.05736	0.05728	0.11653	N	AEFDBI	0.061663	0.11805	N	-1.1188603830318	0.06308	0.2900158	-1.14420036441014	0.06873	0.3323131	0.991143065403302	0.32388	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.12	-1.0	0.09675	0.041000	0.13813	-0.035000	0.12744	-0.133000	0.13014	0.263000	0.24978	0.004000	0.18990	0.010000	0.09038	0.0:0.3988:0.0:0.6012	7.330	0.25749	830	0.39242	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1080.98	33	chr3	112469802	.	T	C	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.346e+00;DP=733;ExcessHet=0.0000;FS=2.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.44;ReadPosRankSum=-1.352e+00;SOR=0.391	GT:AD:DP:GQ:PL	0/1:16,46:62:99:1095,0,282	20	0	1	0
chr3	113274584	113274584	C	T	exonic	BOC	.	nonsynonymous SNV	BOC:NM_001301861:exon9:c.C1444T:p.R482C	.	.	417	1103	2	0	0	2	0.000905797	.	.	3291370	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	1.000	D	1.735	L	1.54	T	-0.804	T	0.162	T	0.903	3.977	20.4	2.7	0.753	1.342	16.160	0.363	0.0723088074601	.	.	9.219e-05	0.0001	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs138233485	9.854e-05	9.85e-05	0.0001	8.804e-05	0.0002	8.514e-05	7.984e-05	0.0001	9.602e-05	0.0002	0	0	0	0	0.0002	0.0001	4.968e-05	0	8.533e-05	8.529e-05	6.423e-05	0.0001	0.0001	4.952e-05	3.959e-05	5.842e-05	4.239e-05	4.808e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.54	0.30133	T	-3.72	0.70793	D	0.838	0.83473	-0.8045	0.54879	T	0.162	0.49748	T	10	0.8085445	0.80164	D	0.072309	0.71498	D	0.363	0.68319	.	.	0.67965922819	0.67693	0.6591606174414062	0.65853	0.997868642895	0.74309	0.672786176205	0.63234	T	0.875932	0.97359	D	0.00582601	0.52455	T	0.0350206	0.72604	D	0.678592681884766	0.39724	D	0.979335	0.92822	D	0.48750716	0.66354	0.36910674	0.62187	0.48750716	0.66355	0.36910674	0.62187	-9.588	0.71406	D	.	.	0.486	0.65395	A	.;.;.	.;.;.	3.796256	0.54670	23.5	0.99923953285270761	0.98917	0.96760	0.70792	D	AEFDBI	0.502680	0.53499	D	0.354752965521272	0.58990	4.075001	0.292934050417172	0.55125	3.67599	0.999843513629775	0.43971	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.8	2.7	0.31007	1.361000	0.33740	0.892000	0.22480	0.599000	0.40250	0.970000	0.34288	0.258000	0.23964	0.578000	0.30845	0.3901:0.6099:0.0:0.0	16.160	0.81512	561	0.71236	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	447.98	38	chr3	113274584	.	C	T	447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=791;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.59;ReadPosRankSum=-1.760e-01;SOR=0.939	GT:AD:DP:GQ:PL	0/1:39,20:59:99:462,0,982	20	0	1	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,72,0,0,0,0:72:99:3044,217,0,3044,217,3044,3044,217,3044,3044,3044,217,3044,3044,3044,3044,217,3044,3044,3044,3044	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,72,0,0,0,0:72:99:3044,217,0,3044,217,3044,3044,217,3044,3044,3044,217,3044,3044,3044,3044,217,3044,3044,3044,3044	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,72,0,0,0,0:72:99:3044,217,0,3044,217,3044,3044,217,3044,3044,3044,217,3044,3044,3044,3044,217,3044,3044,3044,3044	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,72,0,0,0,0:72:99:3044,217,0,3044,217,3044,3044,217,3044,3044,3044,217,3044,3044,3044,3044,217,3044,3044,3044,3044	0	4	0	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.003	B	0.006	B	0.408	N	1.000	N	1.39	L	2.45	T	-1.002	T	0.036	T	0.11	-1.422	0.021	-1.89	-0.182	-1.460	2.032	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4118	1321.45	117	chr3	121697608	.	C	T	1321.45	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-2.821e+00;DP=2409;ExcessHet=14.4320;FS=218.851;InbreedingCoeff=-0.6164;MLEAC=16;MLEAF=0.471;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.342;SOR=12.895	GT:AD:DP:GQ:PL	0/1:58,32:100:83:83,0,1017	3	0	14	4
chr3	121698889	121698889	G	C	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.C1394G:p.A465G	.	.	444	1068	10	0	0	10	0.00465983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.136	B	0.053	B	0.009	N	1.000	N	1.7	L	2.44	T	-0.990	T	0.092	T	0.229	0.952	8.881	-0.137	0.052	0.540	1.241	0.053	.	0.0002	0.00259585	0.0019	0.0002	0.0003	0	0	0.0003	0.0023	0.0129	0.0015977	247	154602	rs201931896	0.0008	0.0008	0.0005	0.0011	0.0110	0.0007	0.0007	0.0104	0.0102	6.135e-05	0.0003	0.0004	0	0	0.0027	9.958e-05	0.0008	0.0110	0.0004	0.0004	0.0003	0.0006	0.0090	0.0004	0.0003	0.0068	0.0061	9.672e-05	0	6.569e-05	0.0003	0	0	0.0034	0.0002	0.0009	0.0090	0.138	0.26965	T	0.096	0.39340	T	0.019	0.27347	B	0.033	0.25678	B	0.008537	0.01209	N	2.551320	1	0.08975	N	1.79	0.46772	L	2.44	0.24656	T	-1.23	0.31170	N	0.044	0.02759	-0.9895	0.32727	T	0.092	0.35010	T	10	0.0055116713	0.00122	T	.	.	.	0.140	0.37593	.	.	0.409800938858	0.40592	0.055963666282335456	0.05537	0.104334685682	0.11803	0.229549348354	0.01935	T	0.017607	0.14333	T	-0.540753	0.00332	T	-0.539143	0.18380	T	0.00603764417651314	0.00066	T	0.609739	0.23774	T	0.035927054	0.04322	0.05874691	0.10910	0.035927054	0.04322	0.05874691	0.10909	-3.703	0.19643	T	.	.	0.098	0.17573	B	.;.;.;.	.;.;.;.	0.824074	0.11954	8.514	0.50764531149210801	0.04442	0.19297	0.20606	N	AEFBI	0.058137	0.10885	N	-0.522569134731959	0.21351	1.132484	-0.675429195802025	0.17576	0.935173	0.0430115102109138	0.14551	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	-0.137	0.12811	0.717000	0.25523	1.434000	0.26471	0.676000	0.76740	0.013000	0.18845	0.001000	0.17328	0.120000	0.19168	0.1727:0.1466:0.38:0.3008	1.241	0.01845	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	720.98	43	chr3	121698889	.	G	C	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.970e-01;DP=864;ExcessHet=0.0000;FS=1.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-4.940e-01;SOR=0.932	GT:AD:DP:GQ:PL	0/1:33,29:62:99:735,0,850	20	0	1	0
chr3	123915489	123915489	T	C	exonic	CCDC14	.	nonsynonymous SNV	CCDC14:NM_001366336:exon9:c.A1552G:p.I518V	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.003	B	0.003	B	0.091	N	1.000	N	1.39	L	0.97	T	-1.092	T	0.079	T	0.039	-1.182	0.082	-0.562	-0.224	-0.131	1.234	0.012	0.00772551368973	.	.	0.0002	0	0	0	0.0005	0.0002	0	0	0.0001229	19	154602	rs199658457	5.678e-05	5.678e-05	6.398e-05	4.951e-05	0.0021	4.677e-05	4.302e-05	0.0012	0.0009	0	2.236e-05	3.826e-05	0	0.0006	0.0021	2.608e-05	0.0001	0	1.971e-05	1.97e-05	1.285e-05	2.689e-05	6.542e-05	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0	9.413e-05	0	1.47e-05	0	0	0.313	0.13879	T	0.352	0.18178	T	0.003	0.11197	B	0.003	0.08700	B	0.091429	0.02458	N	1.718240	1	0.08975	N	.	.	.	0.97	0.42502	T	0.12	0.05604	N	0.044	0.02272	-1.0918	0.05238	T	0.079	0.31405	T	10	0.042322814	0.02971	T	0.007726	0.20510	T	0.012	0.01476	.	.	0.126345400529	0.12197	0.06468752021759998	0.06407	0.0545018715558	0.06029	0.210254207253	0.00822	T	0.013564	0.11709	T	-0.5025	0.00553	T	-0.722915	0.04656	T	0.0469995399655386	0.04966	T	0.453455	0.12891	T	.	.	.	.	.	.	.	.	-2.679	0.07211	T	.	.	0.064	0.01715	B	.;.;.;.;.;.	.;.;.;.;.;.	0.082891	0.04883	1.470	0.18319176317038882	0.00571	0.03775	0.09092	N	AEFBI	0.048870	0.08385	N	-1.18859806791894	0.05171	0.2351344	-1.22846932344424	0.05457	0.2600742	0.0764249847978055	0.15727	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.01	-0.562	0.11192	-0.214000	0.09296	-1.294000	0.05792	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.2205:0.1357:0.3399:0.3039	1.234	0.01831	727	0.54702	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1196.98	39	chr3	123915489	.	T	C	1196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.837e+00;DP=902;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.269;SOR=0.588	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1211,0,1258	20	0	1	0
chr3	125313522	125313522	C	G	exonic	ZNF148	.	nonsynonymous SNV	ZNF148:NM_001348426:exon3:c.G119C:p.G40A	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, Autosomal dominant	.	437	1078	7	0	0	7	0.00323625	.	.	747950	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.85	T	0.083	B	0.023	B	0.000	D	1.000	D	0.345	N	3.16	T	-1.007	T	0.013	T	0.328	1.754	11.82	5.0	2.582	3.854	14.262	0.080	0.00452680711872	0.0015	0.000199681	0.0010	0	8.639e-05	0	0.0002	0.0016	0.0011	0.0007	0.0008861	137	154602	rs141167020	0.0006	0.0006	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	2.987e-05	6.708e-05	0.0144	0	3.744e-05	0.0026	0.0004	0.0013	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0005	0.0005	0.0004	0.0003	2.406e-05	0	0.0003	0.0141	0	9.418e-05	0	0.0005	0.0009	0.0006	0.344	0.12920	T	0.98	0.02423	T	0.083	0.24734	B	0.023	0.19966	B	0.000083	0.51296	D	0.153256	0.993142	0.81001	D	0.695	0.17993	N	3.16	0.07711	T	-0.74	0.74661	N	0.486	0.53796	-1.0071	0.27819	T	0.013	0.05225	T	10	0.003963679	0.00076	T	0.004527	0.11157	T	0.080	0.23350	.	.	0.361733483669	0.35779	0.36470114252489105	0.36384	0.699950383056	0.61075	0.481009572744	0.36195	T	0.360498	0.72673	T	-0.435227	0.01380	T	-0.489499	0.23443	T	0.0331035304662618	0.02488	T	0.69863	0.30863	T	0.23549053	0.46386	0.101026945	0.24173	0.22669424	0.45356	0.12189725	0.29408	-3.783	0.20551	T	0.2076111086295948	0.27752	0.131	0.28290	B	.;.;.;.;.;.	.;.;.;.;.;.	2.726476	0.35675	19.96	0.93796058749341815	0.23762	0.95688	0.65734	D	AEFDGBHIJ	0.493320	0.52958	N	-0.22004660499636	0.32311	1.820905	0.00472924034520748	0.39935	2.375389	0.999999901252766	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.608884	0.39905	0	0.725737	0.93299	0	.	.	5.0	5.0	0.66209	4.134000	0.57751	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1493:0.8507:0.0:0.0	14.262	0.65641	727	0.54702	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1443.98	33	chr3	125313522	.	C	G	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=849;ExcessHet=0.0000;FS=0.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=-8.790e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/1:105,61:166:99:1458,0,2685	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	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	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,17:64:38:.:.:38,0,867	7	0	14	0
chr3	132342614	132342626	GAGTAAAGTCTAC	-	exonic	ACP3	.	frameshift deletion	ACP3:NM_001292037:exon5:c.519_531del:p.S174Tfs*22	.	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0012	0.0003	0.0004	0	0	0.0017	0	0.0012	0.0001153	3	26028	rs751367677	0.0008	0.0009	0.0007	0.0009	0.0014	0.0008	0.0007	0.0008	0.0007	5.996e-05	0.0007	0.0212	0	0	0.0014	0.0003	0.0019	0.0010	0.0010	0.0010	0.0011	0.0009	0.0006	0.0008	0.0008	0.0005	0.0004	2.409e-05	0	0.0005	0.0259	0	0	0	0.0006	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1626.94	34	chr3	132342613	.	GGAGTAAAGTCTAC	G	1626.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.340e-01;DP=815;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.80;SOR=0.860	GT:AD:DP:GQ:PL	0/1:69,44:113:99:1641,0,2764	20	0	1	0
chr3	133755410	133755410	A	G	exonic	TF	.	nonsynonymous SNV	TF:NM_001354704:exon4:c.A169G:p.T57A	Atransferrinemia, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.001	B	0.001	N	1.000	N	0.2	N	1.45	T	-1.069	T	0.033	T	0.262	-0.850	0.551	-5.24	-0.990	-0.414	2.133	0.021	0.00326488060213	0.0002	.	0.0001	0	0	0	0	0.0001	0.0011	0.0002	0.0001229	19	154602	rs139768770	0.0001	0.0001	0.0001	0.0001	0.0028	9.535e-05	9.016e-05	0.0017	0.0014	0.0001	6.708e-05	0	0	0	0.0028	8.813e-05	0.0003	0.0002	7.887e-05	7.876e-05	7.716e-05	8.065e-05	0.0001	4.498e-05	3.513e-05	6.808e-05	5.09e-05	2.409e-05	0	0	0	0	0	0.0068	0.0001	0	0	0.845	0.03421	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.001292	0.00765	N	2.689380	1	0.08975	N	0.085	0.08345	N	1.41	0.33412	T	-0.46	0.25986	N	0.077	0.05162	-1.0688	0.09679	T	0.033	0.14334	T	10	0.046634704	0.03879	T	0.003265	0.07207	T	0.021	0.04004	.	.	0.328222422547	0.32431	0.2771193050541101	0.27624	0.323898823088	0.34546	0.283423185349	0.07975	T	0.167887	0.51469	T	-0.482985	0.00711	T	-0.631227	0.10322	T	0.0234889401534138	0.01082	T	0.0833917	0.00613	T	0.09220246	0.21625	0.064453356	0.12920	0.09220246	0.21625	0.064453356	0.12919	-3.27	0.13353	T	0.14629473629009465	0.16864	0.059	0.03811	B	.;.	.;.	0.372419	0.07448	4.081	0.52412828812209722	0.04743	0.04875	0.10616	N	AEFDBHCI	0.586333	0.58441	D	-1.48264100118082	0.01972	0.08661279	-1.52597865567741	0.02146	0.09824755	0.999998960201071	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.96	-5.24	0.02576	-0.037000	0.12116	0.011000	0.13441	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3797:0.1283:0.3674:0.1246	2.133	0.03526	900	0.24599	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	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	1	0	0	0	0.02381	1477.98	34	chr3	133755410	.	A	G	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e-01;DP=1000;ExcessHet=0.0000;FS=0.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=-1.711e+00;SOR=0.763	GT:AD:DP:GQ:PL	0/1:101,67:168:99:1492,0,2594	20	0	1	0
chr3	142512361	142512361	A	G	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon26:c.T4559C:p.M1520T	Seckel syndrome 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	3386121	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.049	B	0.024	B	0.000	D	1.000	D	1.95	M	2.04	T	-1.102	T	0.058	T	0.797	3.101	16.36	5.24	1.984	9.228	15.149	0.250	0.0221766420099	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170027837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.096	0.31088	T	0.02	0.58613	D	0.049	0.22227	B	0.024	0.20255	B	0.000000	0.84330	D	0.038763	1	0.81001	D	1.85	0.49092	L	2.04	0.20808	T	-2.79	0.59059	D	0.86	0.85660	-1.1018	0.03880	T	0.058	0.24317	T	10	0.7230263	0.73789	D	0.022177	0.45042	T	0.250	0.55888	0.606	0.73825	0.750970900688	0.74872	0.6499890120916018	0.64934	0.950379308058	0.72598	0.786912500858	0.79972	T	0.427948	0.77725	T	0.0778523	0.61789	D	-0.125947	0.61310	T	0.9235919713974	0.58433	D	0.861114	0.55479	D	0.5651057	0.70791	0.38472828	0.63406	0.5651057	0.70792	0.38472828	0.63406	-5.678	0.43497	T	.	.	0.527	0.65802	A	.	.	3.691622	0.52601	23.3	0.98146958940082862	0.38655	0.99615	0.98010	D	AEFBI	0.849461	0.76627	D	0.109093825817655	0.46887	2.92227	0.271030057021448	0.53856	3.552509	0.999999632738063	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	8.985000	0.93048	11.090000	0.85912	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.149	0.72364	379	0.83778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1093.98	46	chr3	142512361	.	A	G	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.028;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=1.08;SOR=0.633	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1108,0,1291	20	0	1	0
chr3	151740821	151740821	G	A	exonic	AADACL2	.	nonsynonymous SNV	AADACL2:NM_207365:exon2:c.G314A:p.R105Q,	.	.	425	1096	1	0	0	1	0.000455996	.	.	2680772	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.917	P	0.298	B	0.000	D	0.971	N	2.435	M	0.3	T	-0.766	T	0.184	T	0.493	3.943	20.2	-0.969	-0.370	1.619	13.735	0.250	0.00633583175765	.	0.000199681	8.243e-05	0	8.657e-05	0	0	0.0001	0.0022	0	0.0001035	16	154602	rs183697499	7.594e-05	7.593e-05	7.76e-05	7.426e-05	0.0003	6.424e-05	6.005e-05	0.0001	9.194e-05	0	0.0002	0.0007	0	0	0.0003	5.666e-05	0.0002	9.275e-05	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0007	0.0006	4.811e-05	0	0.0011	0.0006	0	0	0	5.882e-05	0.0014	0.0002	0.039	0.42487	D	0.097	0.39190	T	0.917	0.50750	P	0.298	0.40966	B	0.000016	0.62929	D	0.110868	0.970879	0.25682	N	2.11	0.58565	M	0.3	0.58755	T	-1.89	0.44094	N	0.42	0.45992	-0.7658	0.57088	T	0.184	0.53225	T	10	0.07541293	0.11651	T	0.006336	0.16639	T	0.250	0.55888	.	.	0.170165803431	0.16609	0.46107983418462656	0.46025	0.0788922733876	0.08879	0.427628099918	0.28884	T	0.126802	0.45342	T	-0.238552	0.15533	T	-0.295726	0.45173	T	0.177709594368935	0.19089	T	.	.	.	0.33980507	0.56264	0.29472706	0.55503	0.33980507	0.56264	0.29472706	0.55502	-8.762	0.66152	D	.	.	0.172	0.37820	B	.	.	3.602805	0.50895	23.0	0.99782560645226437	0.86955	0.57846	0.30484	D	AEFDBI	0.100413	0.20191	N	-0.151453583896419	0.35174	2.016955	-0.280314946276236	0.28746	1.605228	0.0102155809037505	0.11986	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.49	-0.969	0.09783	2.028000	0.40709	0.197000	0.15809	0.618000	0.50648	1.000000	0.71638	0.000000	0.08366	0.916000	0.45140	0.0637:0.5446:0.3917:0.0	13.735	0.62295	868	0.31772	.	.	.	.	.	.	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	0.02381	376.98	34	chr3	151740821	.	G	A	376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=-1.024e+00;SOR=0.622	GT:AD:DP:GQ:PL	0/1:33,16:49:99:391,0,891	20	0	1	0
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.016	B	0.006	B	0.008	N	1.000	D	1.1	L	3.02	T	-1.085	T	0.025	T	0.19	1.903	12.32	5.47	2.569	1.889	10.655	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	6359.01	153	chr3	157381267	.	G	C	6359.01	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-4.595e+00;DP=3537;ExcessHet=3.5521;FS=96.014;InbreedingCoeff=-0.3383;MLEAC=10;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.96;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,40:234:99:0|1:157381266_G_C:1031,0,7949:157381266	8	0	8	5
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.986	D	0.716	P	0.000	D	1.000	D	1.78	L	2.87	T	-1.157	T	0.050	T	0.611	2.725	15.07	4.6	1.319	7.223	13.320	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2353	6222.97	159	chr3	157381269	.	G	C	6222.97	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-6.295e+00;DP=3622;ExcessHet=3.5521;FS=94.732;InbreedingCoeff=-0.3126;MLEAC=9;MLEAF=0.265;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=1.96;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,40:234:99:0|1:157381266_G_C:1031,0,7969:157381266	9	0	8	4
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,42,0:236:99:0|1:157381266_G_C:1073,0,7981,1657,8107,9764:157381266	13	0	5	0
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,42,0:236:99:0|1:157381266_G_C:1073,0,7981,1657,8107,9764:157381266	13	0	5	0
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,42,0:236:99:0|1:157381266_G_C:1073,0,7981,1657,8107,9764:157381266	8	0	3	7
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,42,0:236:99:0|1:157381266_G_C:1073,0,7981,1657,8107,9764:157381266	8	0	3	7
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3552.87	37	chr3	157381276	.	T	TCCCCC	3552.87	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.087e+00;DP=2099;ExcessHet=1.1607;FS=91.920;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=3.43;ReadPosRankSum=2.44;SOR=10.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,42:230:99:0|1:157381266_G_C:1091,0,7748:157381266	13	0	5	3
chr3	160225705	160225705	C	G	exonic	C3orf80	.	nonsynonymous SNV	C3orf80:NM_001168214:exon1:c.C70G:p.L24V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	.	.	.	.	.	.	0.991	N	0	N	.	.	-1.023	T	0.058	T	0.238	3.564	18.17	3.27	1.663	1.273	12.053	0.041	0.0218717596954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.763	0.04587	T	.	.	.	.	.	.	.	.	.	.	0.990732	0.24132	N	0	0.06538	N	.	.	.	-0.37	0.13226	N	0.315	0.35514	-1.0231	0.22704	T	0.058	0.24502	T	6	0.13441387	0.25581	T	0.021872	0.44695	T	0.041	0.10877	0.324	0.30549	0.0762999501168	0.06990	0.2609191014245777	0.26004	.	.	.	.	.	0.012616	0.11057	T	-0.0918245	0.37774	T	-0.369676	0.36927	T	0.490506115068833	0.32283	T	0.447055	0.12542	T	0.3604581	0.57871	0.6267781	0.78241	0.3604581	0.57871	0.6267781	0.78242	-6.727	0.52013	T	.	.	0.106	0.19478	B	.	.	2.452556	0.31584	18.78	0.99506101185463103	0.68322	0.79242	0.39229	D	ALL	0.236854	0.35923	N	-0.12314067541791	0.36385	2.102525	-0.0596456270733717	0.37075	2.166007	0.999999999999989	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.27	3.27	0.36580	0.717000	0.25523	0.179000	0.15609	0.303000	0.18983	0.152000	0.23684	0.984000	0.30665	0.932000	0.46971	0.0:1.0:0.0:0.0	12.053	0.52817	353	0.85335	.	.	.	.	.	.	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	0.02381	671.98	37	chr3	160225705	.	C	G	671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.697e+00;DP=765;ExcessHet=0.0000;FS=1.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-1.646e+00;SOR=0.431	GT:AD:DP:GQ:PL	0/1:16,26:42:99:686,0,449	20	0	1	0
chr3	160226363	160226363	G	A	exonic	C3orf80	.	nonsynonymous SNV	C3orf80:NM_001168214:exon1:c.G728A:p.R243H,	.	.	417	1088	17	0	0	17	0.00775194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.016	U	0.990	N	0.55	N	.	.	-1.008	T	0.084	T	0.304	3.214	16.77	3.61	2.018	3.317	10.027	0.206	0.151605206099	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs779121195	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0002	0.0035	0.0030	7.216e-05	0.0009	0	0	0	0.0050	0.0002	0.0003	0.0013	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	4.813e-05	0	0.0007	0	0	0	0	0.0002	0.0009	0.0006	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.016099	0.28070	U	0.000000	0.990121	0.24211	N	0.695	0.17993	N	.	.	.	-2.39	0.52612	N	0.204	0.22614	-1.0077	0.27634	T	0.084	0.32957	T	7	0.0732674	0.11046	T	0.151605	0.83313	D	0.206	0.49396	.	.	0.0806252709748	0.07271	0.254974724230215	0.25411	.	.	.	.	.	0.076348	0.35396	T	-0.329495	0.06150	T	-0.296514	0.45091	T	0.0890177861056498	0.11101	T	0.671933	0.28057	T	0.31470525	0.54189	0.39911166	0.64482	0.31470525	0.54189	0.39911166	0.64482	-4.961	0.36414	T	.	.	0.104	0.18950	B	.	.	3.367080	0.46514	22.3	0.99877966519008476	0.95491	0.85611	0.44762	D	AEFDBCI	0.203752	0.33024	N	0.0670250979098948	0.44930	2.758149	0.101940144588578	0.44648	2.742463	0.999492229685924	0.40007	0.455138	0.09556	0	0.491552	0.07993	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	3.61	3.61	0.40494	3.213000	0.50855	4.541000	0.43764	0.561000	0.28422	1.000000	0.71638	1.000000	0.68203	0.400000	0.26782	0.0:0.3492:0.6507:0.0	10.027	0.41249	353	0.85335	.	.	.	.	.	.	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	0.02381	530.98	40	chr3	160226363	.	G	A	530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.935e+00;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.549;SOR=0.600	GT:AD:DP:GQ:PL	0/1:17,20:37:99:545,0,487	20	0	1	0
chr3	165023746	165023746	A	G	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon26:c.T2923C:p.Y975H,	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	1	1489	31	1	0	33	0.0109598	.	.	293673	Sucrase-isomaltase_deficiency|SI-related_disorder|not_provided	MONDO:MONDO:0009114,MedGen:C1283620,OMIM:222900,Orphanet:35122|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	0.999	D	2.63	M	-0.08	T	-0.076	T	0.381	T	0.498	3.511	17.94	5.23	2.324	4.266	15.247	0.506	.	0.0040	0.00319489	0.0040	0.0010	0.0039	0	0.0011	0.0058	0.0077	0.0020	0.0041267	638	154602	rs146785675	0.0050	0.0050	0.0049	0.0051	0.0153	0.0049	0.0048	0.0127	0.0118	0.0013	0.0062	0.0055	0	0.0011	0.0153	0.0056	0.0054	0.0018	0.0048	0.0048	0.0052	0.0044	0.0118	0.0045	0.0044	0.0104	0.0098	0.0014	0.0099	0.0118	0.0058	0	0.0013	0.0204	0.0063	0.0081	0.0012	0.014	0.53172	D	0.015	0.61642	D	1.0	0.90584	D	0.998	0.88582	D	0.000007	0.62929	D	0.066286	0.998642	0.45212	D	3.7	0.94612	H	-0.08	0.63911	T	-4.46	0.77798	D	0.644	0.65587	-0.0764	0.80633	T	0.381	0.73759	T	10	0.025785983	0.00762	T	.	.	.	0.506	0.78724	.	.	0.945111871398	0.94453	0.7485530980654919	0.74801	0.237281895606	0.26271	0.464577972889	0.33937	T	0.535424	0.83998	D	-0.295817	0.09060	T	-0.190306	0.55562	T	0.0514766366932002	0.05757	T	0.680832	0.28956	T	0.42258286	0.62263	0.36152923	0.61575	0.42258286	0.62264	0.36152923	0.61574	-8.426	0.63938	D	0.2563194530862008	0.34651	0.238	0.47206	B	.	.	4.046501	0.59952	24.2	0.9985915946282129	0.93820	0.98485	0.83276	D	AEFDI	0.614813	0.60199	D	0.660584470686298	0.77054	6.601703	0.581449699235702	0.73612	5.998803	0.384761113783112	0.19992	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	3.702000	0.54532	8.876000	0.78337	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	1.0:0.0:0.0:0.0	15.247	0.73205	852	0.35056	P-type trefoil domain|P-type trefoil domain|P-type trefoil domain|P-type trefoil 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	0.02381	647.98	34	chr3	165023746	.	A	G	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.776e+00;DP=742;ExcessHet=0.0000;FS=4.250;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.486;SOR=0.284	GT:AD:DP:GQ:PL	0/1:25,27:52:99:662,0,739	20	0	1	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.069	B	0.000	D	0.833	D	0.145	N	-2.32	D	-0.070	T	0.405	T	0.407	3.124	16.44	5.88	2.250	2.889	12.983	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.07143	652.74	158	chr3	179875393	.	T	C	652.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.375e+00;DP=2194;ExcessHet=0.3300;FS=111.995;InbreedingCoeff=-0.0784;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.15;ReadPosRankSum=1.70;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:117,41:158:99:.:.:271,0,2259	18	0	3	0
chr3	184327364	184327364	C	T	exonic	EIF4G1	.	nonsynonymous SNV	EIF4G1:NM_004953:exon17:c.C2992T:p.R998W	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.96	D	0.005	N	1.000	D	1.1	L	3.81	T	-1.110	T	0.028	T	0.912	4.445	23.7	4.33	1.422	3.386	8.863	0.158	0.0256710619792	7.7e-05	.	5.85e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs369412977	2.19e-05	2.257e-05	1.089e-05	3.301e-05	5.797e-05	1.585e-05	1.356e-05	2.194e-05	1.43e-05	0	0	0	5.038e-05	0	0	2.068e-05	3.312e-05	5.797e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.005	0.68238	D	0.021	0.58613	D	1.0	0.90584	D	0.96	0.70309	D	0.004598	0.33588	N	0.316936	1	0.81001	D	2.52	0.73523	M	3.81	0.04544	T	-3.72	0.71519	D	0.814	0.89020	-1.1097	0.03096	T	0.028	0.11795	T	10	0.6008295	0.66902	D	0.025671	0.48627	D	0.158	0.41098	.	.	0.723952196353	0.72151	0.4572162327556008	0.45639	1.1607949559	0.79478	0.773794054985	0.77992	T	0.414285	0.76789	T	0.0817194	0.62242	D	0.0611357	0.74321	D	0.846909761428833	0.49901	D	0.943106	0.78979	D	0.24188359	0.47109	0.15485674	0.36326	0.24188359	0.47109	0.15485674	0.36325	-6.254	0.50869	T	.	.	0.222	0.52068	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	5.451585	0.91058	32	0.99917022725408644	0.98449	0.94579	0.61626	D	AEFDGBHCI	0.822999	0.74320	D	0.473064210996152	0.65524	4.833196	0.467314169389021	0.65838	4.874425	0.999999987135547	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.2	4.33	0.51083	3.436000	0.52619	4.826000	0.45158	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1826:0.7382:0.0:0.0792	8.863	0.34428	912	0.21483	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1214.98	34	chr3	184327364	.	C	T	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.466;DP=789;ExcessHet=0.0000;FS=4.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=-4.350e-01;SOR=0.338	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1229,0,856	20	0	1	0
chr3	189995368	189995368	C	A	exonic	P3H2	.	nonsynonymous SNV	P3H2:NM_001134418:exon2:c.G12T:p.Q4H	Myopia, high, with cataract and vitreoretinal degeneration, Autosomal recessive	YES	1	1507	14	0	0	14	0.00462351	.	.	538358	not_provided|Myopia,_high,_with_cataract_and_vitreoretinal_degeneration	MedGen:C3661900|MONDO:MONDO:0013670,MedGen:C3280346,OMIM:614292	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.994	D	0.885	P	0.000	D	0.917	D	1.24	L	1.58	T	-0.856	T	0.102	T	0.343	3.531	18.02	2.39	0.843	-0.018	8.420	0.145	.	0.0002	0.00359425	0.0012	9.61e-05	0.0006	0	0	0.0006	0.0022	0.0061	0.0011902	184	154602	rs117688924	0.0009	0.0009	0.0007	0.0010	0.0062	0.0008	0.0008	0.0058	0.0056	0.0003	0.0006	0.0029	2.519e-05	0	0.0059	0.0004	0.0015	0.0062	0.0008	0.0008	0.0007	0.0009	0.0093	0.0007	0.0006	0.0072	0.0064	7.224e-05	0	0.0009	0.0020	0.0002	0	0.0068	0.0007	0.0019	0.0093	0.011	0.63226	D	0.029	0.58089	D	0.994	0.66517	D	0.885	0.62825	P	0.000254	0.46924	D	0.197028	0.916514	0.36554	D	1.775	0.45938	L	1.58	0.40218	T	-1.58	0.42001	N	0.415	0.45520	-0.8560	0.51548	T	0.102	0.37618	T	9	0.00795579	0.00181	T	.	.	.	0.145	0.38592	0.358	0.36060	0.324161360171	0.32030	0.532962182838961	0.53221	0.283057473856	0.30755	0.451816797256	0.32192	T	0.111784	0.42754	T	-0.464984	0.00914	T	-0.43822	0.29007	T	0.0554225582295242	0.06428	T	0.929107	0.73907	D	0.083130576	0.19182	0.10408253	0.24988	0.083130576	0.19182	0.10408253	0.24988	-8.052	0.61424	D	0.27357052326696946	0.36761	0.308	0.59274	B	.;.;.;.	.;.;.;.	3.415466	0.47403	22.5	0.99700674420012203	0.80591	0.66466	0.33088	D	ALL	0.169292	0.29612	N	0.213103086037382	0.51834	3.361646	0.18438217101127	0.48991	3.107842	0.999999996362235	0.74766	0.75658	0.98901	0	0.693117	0.66813	0	0.858454	0.99976	0	0.613276	0.41899	0	.	.	5.34	2.39	0.28492	-0.085000	0.11215	0.840000	0.22034	0.599000	0.40250	0.711000	0.28732	0.999000	0.35428	0.998000	0.85391	0.1356:0.7138:0.0:0.1505	8.420	0.31856	810	0.42761	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1293.98	33	chr3	189995368	.	C	A	1293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=824;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-1.117e+00;SOR=0.734	GT:AD:DP:GQ:PL	0/1:57,56:113:99:1308,0,1396	20	0	1	0
chr3	195779036	195779036	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	73.76	280	chr3	195779036	.	T	*,G	73.76	.	AC=10,3;AF=0.333,0.100;AN=30;BaseQRankSum=-1.320e+00;DP=7021;ExcessHet=0.4264;FS=3.231;InbreedingCoeff=0.0544;MLEAC=13,4;MLEAF=0.433,0.133;MQ=54.24;MQRankSum=-3.656e+00;QD=0.02;ReadPosRankSum=-2.400e+00;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,190,7:203:35:.:.:6846,89,0,6725,35,6791	5	1	6	6
chr3	195780494	195780494	G	0	exonic	MUC4	.	.	.	.	.	694	424	90	25	289	429	0.1417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5548.65	401	chr3	195780494	.	G	*,A	5548.65	.	AC=7,1;AF=0.350,0.050;AN=20;BaseQRankSum=5.01;DP=8569;ExcessHet=1.8394;FS=1.262;InbreedingCoeff=0.0278;MLEAC=12,2;MLEAF=0.600,0.100;MQ=54.69;MQRankSum=-3.824e+00;QD=1.83;ReadPosRankSum=9.34;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,484,0:553:99:.:.:366,0,2447,574,2897,3471	3	1	5	11
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:5,49,468:522:99:.:.:22040,1741,407,2813,0,1622	6	1	7	1
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:6,468,47:521:99:.:.:21911,2687,1538,1699,0,413	3	1	2	6
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	36875.28	349	chr3	195780510	.	G	A,*	36875.28	.	AC=9,5;AF=0.265,0.147;AN=34;BaseQRankSum=0.680;DP=8180;ExcessHet=0.1645;FS=1.137;InbreedingCoeff=0.2695;MLEAC=11,6;MLEAF=0.324,0.176;MQ=53.29;MQRankSum=3.36;QD=8.07;ReadPosRankSum=-2.570e+00;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:12,21,471:504:99:.:.:20901,1472,495,1358,0,444	7	2	3	4
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22106.14	349	chr3	195780514	.	G	*,A	22106.14	.	AC=7,7;AF=0.233,0.233;AN=30;BaseQRankSum=0.605;DP=8615;ExcessHet=0.3357;FS=1.883;InbreedingCoeff=0.2178;MLEAC=9,9;MLEAF=0.300,0.300;MQ=53.69;MQRankSum=2.63;QD=4.78;ReadPosRankSum=-2.700e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:12,471,12:495:99:.:.:20824,1142,120,1568,0,473	5	1	3	6
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	5946.85	349	chr3	195780525	.	GTC	*,G	5946.85	.	AC=9,2;AF=0.321,0.071;AN=28;BaseQRankSum=-5.320e-01;DP=7947;ExcessHet=0.0073;FS=2.130;InbreedingCoeff=0.4634;MLEAC=13,3;MLEAF=0.464,0.107;MQ=52.96;MQRankSum=5.01;QD=1.90;ReadPosRankSum=1.98;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:18,471,0:489:99:.:.:20434,770,0,1699,384,893	7	3	3	7
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	5700.23	349	chr3	195780526	.	TCCG	*,T	5700.23	.	AC=11,1;AF=0.423,0.038;AN=26;BaseQRankSum=2.59;DP=7969;ExcessHet=0.0661;FS=2.096;InbreedingCoeff=0.3651;MLEAC=16,1;MLEAF=0.615,0.038;MQ=52.99;MQRankSum=5.89;QD=1.65;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:18,471,0:489:99:.:.:20434,770,0,11823,1465,11120	5	4	3	8
chr3	195780575	195780575	C	0	exonic	MUC4	.	.	.	.	.	839	407	22	0	254	276	0.0263158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12264.56	349	chr3	195780575	.	C	*,T	12264.56	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=0.071;DP=7349;ExcessHet=6.0611;FS=0.558;InbreedingCoeff=-0.0832;MLEAC=10,2;MLEAF=0.500,0.100;MQ=51.21;MQRankSum=8.32;QD=3.68;ReadPosRankSum=3.24;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,471,0:536:99:.:.:19384,0,1312,996,1750,2308	3	0	6	11
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:331,225,0:556:99:.:.:5927,0,11025,6923,11698,18621	5	0	12	3
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,490,0:596:99:.:.:19482,0,2905,19801,4351,24151	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,477,0:584:99:.:.:19077,0,2957,19399,4370,23770	3	0	14	3
chr3	195781134	195781134	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	33200.29	498	chr3	195781134	.	A	G,*	33200.29	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=6.18;DP=8525;ExcessHet=15.6281;FS=5.345;InbreedingCoeff=-0.5385;MLEAC=14,1;MLEAF=0.350,0.025;MQ=57.71;MQRankSum=-1.307e+01;QD=5.24;ReadPosRankSum=-7.680e-01;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,133,0:532:99:0|1:195781134_A_G:4154,0,16144,5355,16544,21899:195781134	6	0	13	1
chr3	195781149	195781154	GCTGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10426_10431del:p.T3476_S3477del	.	.	429	865	216	1	11	229	0.11191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0145	0	0	0.0029	0	0	0	0.0351	3.84e-05	1	26028	.	0.0025	0.0021	0.0015	0.0035	0.0389	0.0024	0.0023	0.0375	0.0369	0.0001	4.844e-05	0	7.76e-05	5.404e-05	0.0012	0.0002	0.0034	0.0389	0.0031	0.0027	0.0012	0.0050	0.0817	0.0026	0.0025	0.0699	0.0654	0.0003	0	0	0	0	0	0	0.0002	0.0017	0.0817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:395,0,98:493:99:0|1:195781134_A_G:2926,4115,20669,0,16554,16259:195781134	6	0	1	2
chr3	195781148	195781154	GGCTGGT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:395,0,98:493:99:0|1:195781134_A_G:2926,4115,20669,0,16554,16259:195781134	6	0	1	2
chr3	195781150	195781150	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	17655.6	472	chr3	195781150	.	C	CAT,*	17655.6	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=6.87;DP=8110;ExcessHet=11.8493;FS=8.427;InbreedingCoeff=-0.4911;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.14;MQRankSum=-1.618e+01;QD=3.26;ReadPosRankSum=-2.268e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:388,89,0:477:99:0|1:195781134_A_G:2569,0,15992,3737,16260,19997:195781134	7	0	12	1
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	57049.74	510	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA,*	57049.74	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-8.550e-01;DP=9994;ExcessHet=6.1794;FS=2.732;InbreedingCoeff=-0.3292;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.80;MQRankSum=-1.148e+01;QD=9.95;ReadPosRankSum=-6.049e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:349,259,0:608:99:9427,0,13313,10491,14092,24582	7	0	12	1
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16107.51	556	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G,*	16107.51	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=2.83;DP=10262;ExcessHet=5.0857;FS=9.641;InbreedingCoeff=-0.3187;MLEAC=12,2;MLEAF=0.333,0.056;MQ=55.78;MQRankSum=-1.803e+00;QD=2.85;ReadPosRankSum=-4.685e+00;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:425,109,0:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,0,17300,4632,17677,22310:195781570	6	0	10	3
chr3	195781578	195781579	AG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	3970.88	556	chr3	195781578	.	AG	A,*	3970.88	.	AC=1,10;AF=0.031,0.313;AN=32;BaseQRankSum=3.87;DP=10171;ExcessHet=8.9063;FS=8.836;InbreedingCoeff=-0.4349;MLEAC=1,12;MLEAF=0.031,0.375;MQ=55.69;MQRankSum=-5.260e-01;QD=0.73;ReadPosRankSum=-6.913e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:425,0,109:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,4632,22310,0,17677,17300:195781570	5	0	1	5
chr3	195781580	195781580	G	0	exonic	MUC4	.	.	.	.	.	463	722	319	1	17	338	0.18187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:425,109,0:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,0,17300,4632,17677,22310:195781570	6	1	10	3
chr3	195781580	195781580	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10000G:p.P3334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.02	B	.	.	1.000	N	0	N	1.6	T	-1.029	T	0.025	T	0.055	-2.642	0	-0.846	-1.978	-4.124	.	0.002	0.00306801804481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201933946	2.584e-05	3.087e-05	2.108e-05	3.081e-05	0.0009	1.477e-05	1.088e-05	0.0002	0.0001	0	0	0	0.0009	0	0	1.631e-05	5.502e-05	7.572e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.225	0.25670	T	.	.	.	.	.	.	.	.	.	.	1	0.20745	N	.	.	.	1.6	0.29085	T	-0.92	0.25332	N	0.04	0.03613	-1.0294	0.20649	T	0.025	0.10866	T	7	0.049262732	0.04492	T	0.003068	0.06636	T	0.002	0.00045	0.155	0.05858	0.0138822411134	0.00435	7.891078168164878E-4	0.00072	.	.	0.422586500645	0.28193	T	.	.	.	-0.383899	0.02944	T	-0.789221	0.02186	T	0.0408006180140352	0.03836	T	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01215	B	.;.	.;.	0.478526	0.08482	5.240	0.48788944872141277	0.04100	0.00070	0.00494	N	AEFBI	0.046739	0.07794	N	-1.9141490975778	0.00321	0.01379166	-2.02320338169732	0.00274	0.01206826	9.80237534810795E-4	0.08079	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.579000	0.05927	-4.712000	0.02021	-2.820000	0.00180	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:425,109,0:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,0,17300,4632,17677,22310:195781570	6	1	10	3
chr3	195781581	195781581	G	0	exonic	MUC4	.	.	.	.	.	457	734	318	1	12	332	0.178971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3967.27	556	chr3	195781581	.	G	T,*	3967.27	.	AC=1,9;AF=0.033,0.300;AN=30;BaseQRankSum=4.80;DP=9779;ExcessHet=6.9875;FS=11.398;InbreedingCoeff=-0.4055;MLEAC=1,11;MLEAF=0.033,0.367;MQ=55.48;MQRankSum=-3.960e-01;QD=0.82;ReadPosRankSum=-7.208e+00;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:425,0,109:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,4632,22310,0,17677,17300:195781570	5	0	1	6
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13584.69	556	chr3	195781583	.	T	*,TGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC,TC	13584.69	.	AC=8,2,1;AF=0.267,0.067,0.033;AN=30;BaseQRankSum=5.10;DP=9593;ExcessHet=2.8258;FS=8.879;InbreedingCoeff=-0.2455;MLEAC=10,2,1;MLEAF=0.333,0.067,0.033;MQ=56.45;MQRankSum=-1.210e-01;QD=3.10;ReadPosRankSum=-1.456e+00;SOR=1.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:425,109,0,0:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,0,17300,4632,17677,22310,4632,17677,22310,22310:195781570	5	0	7	6
chr3	195781591	195781591	T	0	exonic	MUC4	.	.	.	.	.	449	750	25	2	296	325	0.0189666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3997.07	404	chr3	195781591	.	T	*,G,A	3997.07	.	AC=10,2,1;AF=0.294,0.059,0.029;AN=34;BaseQRankSum=2.81;DP=8640;ExcessHet=5.0857;FS=10.247;InbreedingCoeff=-0.3523;MLEAC=11,2,1;MLEAF=0.324,0.059,0.029;MQ=55.21;MQRankSum=-4.300e+00;QD=0.78;ReadPosRankSum=-4.302e+00;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:425,109,0,0:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,0,17300,4632,17677,22310,4632,17677,22310,22310:195781570	5	0	9	4
chr3	195781604	195781604	-	GTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.9975_9976insACCACCCCTCTTCATGTCACCGACACTTCCTCAGCATCCACAGGTCAC:p.H3325_A3326insTTPLHVTDTSSASTGH,	.	.	455	772	278	1	16	296	0.153509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0003	0	0.0008	.	.	.	.	0.0004	0.0003	0.0003	0.0004	0.0051	0.0003	0.0003	0.0029	0.0022	0	0.0027	0.0013	0	0	0.0051	0.0002	0.0007	0.0012	0.0004	0.0005	0.0003	0.0005	0.0010	0.0003	0.0002	0.0004	0.0003	5.202e-05	0	0.0010	0.0009	0	0	0	0.0005	0.0013	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6595.46	368	chr3	195781604	.	C	T,CGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT,*	6595.46	.	AC=1,1,1;AF=0.056,0.056,0.056;AN=18;BaseQRankSum=5.02;DP=8353;ExcessHet=0.3672;FS=4.421;InbreedingCoeff=-0.1948;MLEAC=2,2,2;MLEAF=0.111,0.111,0.111;MQ=56.46;MQRankSum=-1.429e+00;QD=4.51;ReadPosRankSum=-3.433e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:425,0,0,109:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,4632,22310,4632,22310,22310,0,17677,17677,17300:195781570	6	0	1	12
chr3	195781604	195781604	C	0	exonic	MUC4	.	.	.	.	.	455	772	278	1	16	296	0.153509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6595.46	368	chr3	195781604	.	C	T,CGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACATGAAGAGGGGTGGT,*	6595.46	.	AC=1,1,1;AF=0.056,0.056,0.056;AN=18;BaseQRankSum=5.02;DP=8353;ExcessHet=0.3672;FS=4.421;InbreedingCoeff=-0.1948;MLEAC=2,2,2;MLEAF=0.111,0.111,0.111;MQ=56.46;MQRankSum=-1.429e+00;QD=4.51;ReadPosRankSum=-3.433e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:425,0,0,109:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,4632,22310,4632,22310,22310,0,17677,17677,17300:195781570	6	0	1	12
chr3	195781605	195781605	G	0	exonic	MUC4	.	.	.	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:425,109,0:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,0,17300,4632,17677,22310:195781570	7	0	9	4
chr3	195781605	195781605	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9975G:p.H3325Q,	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	B	0.0	B	.	.	1.000	N	0	N	1.64	T	-0.994	T	0.028	T	0.045	0.133	4.714	-1.18	0.494	-0.453	3.491	0.026	0.000701924505054	.	.	0.0038	0.0092	0.0027	0.0065	0.0074	0.0033	0.0060	0.0021	0.0005757	89	154602	rs368202391	0.0002	0.0009	0.0002	0.0002	0.0019	0.0002	0.0002	0.0012	0.0009	0.0005	0.0002	0.0001	0.0019	0.0010	0.0008	0.0002	0.0002	0.0007	0.0015	0.0080	0.0013	0.0018	0.0040	0.0013	0.0013	0.0022	0.0017	0.0008	0	0.0024	0.0027	0.0040	0.0035	0	0.0012	0.0025	0.0038	0.359	0.11957	T	0.549	0.09457	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.28002	T	-0.58	0.20358	N	0.126	0.14054	-0.9936	0.31670	T	0.028	0.12103	T	8	0.0067867637	0.00154	T	7.02E-4	0.00435	T	0.026	0.05648	0.259	0.20159	0.0138822411134	0.00435	0.0013358041139753607	0.00123	.	.	0.487636059523	0.37111	T	.	.	.	-0.38784	0.02778	T	-0.794882	0.02034	T	0.00525087148980338	0.00057	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24566	B	.;.	.;.	0.541304	0.09098	5.882	0.71700136203587272	0.09718	0.00069	0.00489	N	AEFBI	0.058666	0.11023	N	-1.28472862471283	0.03858	0.1731374	-1.36847136025834	0.03593	0.1679022	1.34692826708022E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-1.18	0.09122	-0.199000	0.09493	-3.178000	0.02995	-1.076000	0.01581	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.5572:0.4428	3.491	0.07201	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:425,109,0:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,0,17300,4632,17677,22310:195781570	7	0	9	4
chr3	195781607	195781607	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	348.15	360	chr3	195781607	.	G	C,*	348.15	.	AC=1,1;AF=0.063,0.063;AN=16;BaseQRankSum=3.02;DP=8139;ExcessHet=0.1190;FS=7.268;InbreedingCoeff=-0.1703;MLEAC=2,2;MLEAF=0.125,0.125;MQ=54.49;MQRankSum=-2.322e+00;QD=0.31;ReadPosRankSum=-7.355e+00;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:425,0,109:534:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3353,4632,22310,0,17677,17300:195781570	6	0	1	13
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	64803.77	402	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*,G	64803.77	.	AC=5,12;AF=0.147,0.353;AN=34;BaseQRankSum=0.785;DP=8138;ExcessHet=1.0760;FS=0.000;InbreedingCoeff=-0.0359;MLEAC=6,14;MLEAF=0.176,0.412;MQ=54.52;MQRankSum=-7.229e+00;QD=12.85;ReadPosRankSum=0.031;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,109,289:398:99:1|0:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:16835,11815,12860,4625,0,3667:195781570	4	0	1	4
chr3	195781620	195781620	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	317.18	402	chr3	195781620	.	T	*,C	317.18	.	AC=15,3;AF=0.441,0.088;AN=34;BaseQRankSum=0.368;DP=7754;ExcessHet=0.4630;FS=2.515;InbreedingCoeff=0.0667;MLEAC=17,3;MLEAF=0.500,0.088;MQ=54.29;MQRankSum=-9.995e+00;QD=0.07;ReadPosRankSum=-1.613e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,289,0:398:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:13168,958,0,13061,1016,13677:195781570	4	2	8	4
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,289:398:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:13168,13061,13677,958,1016,0:195781570	0	3	3	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	8196.5	402	chr3	195781639	.	A	T,*	8196.5	.	AC=1,6;AF=0.056,0.333;AN=18;BaseQRankSum=-1.301e+00;DP=5813;ExcessHet=1.1475;FS=1.742;InbreedingCoeff=0.0793;MLEAC=2,11;MLEAF=0.111,0.611;MQ=56.14;MQRankSum=-9.244e+00;QD=3.89;ReadPosRankSum=-1.029e+00;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,289:398:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:13168,13061,13677,958,1016,0:195781570	3	0	1	12
chr3	195781645	195781645	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9935A:p.P3312H,	.	.	536	587	364	31	4	430	0.26625	.	.	2840494	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.969	D	0.707	P	.	.	1.000	N	0.55	N	1.5	T	-1.044	T	0.056	T	0.065	0.255	5.379	-1.49	0.088	-1.535	3.617	0.028	.	.	0.00299521	0.0087	0	0.0068	0	0	0.0099	0	0.0117	0.0005886	91	154602	rs62282476	0.0087	0.0069	0.0083	0.0092	0.0137	0.0085	0.0084	0.0125	0.0120	0.0016	0.0008	0.0433	0	0	0.0088	0.0087	0.0111	0.0137	0.0022	0.0024	0.0023	0.0022	0.0088	0.0019	0.0018	0.0058	0.0049	0.0004	0.0185	0.0008	0.0177	0	0	0	0.0030	0.0019	0.0088	0.001	0.78490	D	0.065	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31205	T	-0.55	0.21644	N	0.075	0.04913	-1.0436	0.16236	T	0.056	0.23488	T	8	0.0050420463	0.00109	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.006791750257993445	0.00646	.	.	0.461181938648	0.33473	T	.	.	.	-0.319438	0.06943	T	-0.696627	0.06012	T	0.0200654981272231	0.00707	T	0.79532	0.43818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34361	B	.;.	.;.	1.995519	0.25356	16.73	0.87079188851090572	0.16974	0.00182	0.01064	N	AEFBI	0.056229	0.10378	N	-0.819753390612407	0.12806	0.6266146	-1.08128031475341	0.08069	0.3951516	1.5455898311315E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	-1.49	0.08259	-0.147000	0.10218	0.176000	0.15576	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4971:0.5029:0.0	3.617	0.07624	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	0.375	9999.09	402	chr3	195781645	.	G	T,*	9999.09	.	AC=1,5;AF=0.063,0.313;AN=16;BaseQRankSum=-3.990e-01;DP=5790;ExcessHet=0.4981;FS=0.000;InbreedingCoeff=0.1231;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.29;MQRankSum=12.92;QD=5.33;ReadPosRankSum=1.70;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,289:398:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:13168,13061,13677,958,1016,0:195781570	3	0	1	13
chr3	195781645	195781645	G	0	exonic	MUC4	.	.	.	.	.	536	587	364	31	4	430	0.26625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	9999.09	402	chr3	195781645	.	G	T,*	9999.09	.	AC=1,5;AF=0.063,0.313;AN=16;BaseQRankSum=-3.990e-01;DP=5790;ExcessHet=0.4981;FS=0.000;InbreedingCoeff=0.1231;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.29;MQRankSum=12.92;QD=5.33;ReadPosRankSum=1.70;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,289:398:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:13168,13061,13677,958,1016,0:195781570	3	0	1	13
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	8091.5	402	chr3	195781647	.	A	G,*	8091.5	.	AC=1,6;AF=0.056,0.333;AN=18;BaseQRankSum=-9.110e-01;DP=5805;ExcessHet=1.1475;FS=1.742;InbreedingCoeff=0.0793;MLEAC=2,11;MLEAF=0.111,0.611;MQ=55.79;MQRankSum=-9.225e+00;QD=3.82;ReadPosRankSum=-1.318e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,289:398:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:13168,13061,13677,958,1016,0:195781570	3	0	1	12
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6369.68	402	chr3	195781666	.	A	*,G	6369.68	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=1.86;DP=5542;ExcessHet=1.1475;FS=3.216;InbreedingCoeff=0.1231;MLEAC=10,2;MLEAF=0.500,0.100;MQ=54.75;MQRankSum=-7.719e+00;QD=3.17;ReadPosRankSum=-7.700e-01;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,289,0:398:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:13168,958,0,13061,1016,13677:195781570	4	1	4	11
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	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	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:72,0,188:260:99:.:.:5819,6035,9034,0,2999,2509	6	0	1	1
chr3	195781789	195781789	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:72,0,188:260:99:.:.:5819,6035,9034,0,2999,2509	6	0	1	1
chr3	195781790	195781790	A	0	exonic	MUC4	.	.	.	.	.	585	525	41	5	366	417	0.0463215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	155.03	235	chr3	195781790	.	A	G,*	155.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=-5.110e-01;DP=3742;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-5.390e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:72,0,188:260:99:.:.:5819,6035,9034,0,2999,2509	5	0	1	2
chr3	195781809	195781809	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	98.03	235	chr3	195781809	.	T	A,*	98.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=1.65;DP=3716;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=39.50;MQRankSum=-7.910e-01;QD=0.03;ReadPosRankSum=-1.770e+00;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:72,0,188:260:99:.:.:5819,6035,9034,0,2999,2509	5	0	1	2
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1756.67	235	chr3	195781829	.	C	T,*	1756.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-5.383e+00;DP=3592;ExcessHet=15.6281;FS=2.445;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=41.70;MQRankSum=-4.776e+00;QD=0.57;ReadPosRankSum=1.90;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:72,0,188:260:99:.:.:5819,6035,9034,0,2999,2509	6	0	1	1
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	57440.95	642	chr3	195782558	.	A	G,*	57440.95	.	AC=9,4;AF=0.300,0.133;AN=30;BaseQRankSum=-2.341e+00;DP=9169;ExcessHet=0.9330;FS=0.571;InbreedingCoeff=0.1246;MLEAC=12,5;MLEAF=0.400,0.167;MQ=56.40;MQRankSum=-5.591e+00;QD=11.79;ReadPosRankSum=1.28;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:5,626,0:631:99:.:.:19251,1798,0,19265,1877,19344	5	1	5	6
chr3	195783861	195783861	G	0	exonic	MUC4	.	.	.	.	.	560	460	486	7	9	509	0.352113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	81944.7	385	chr3	195783861	.	G	A,*	81944.7	.	AC=12,1;AF=0.400,0.033;AN=30;BaseQRankSum=1.06;DP=8683;ExcessHet=15.1749;FS=1.128;InbreedingCoeff=-0.5646;MLEAC=15,1;MLEAF=0.500,0.033;MQ=54.05;MQRankSum=-8.970e-01;QD=13.98;ReadPosRankSum=0.513;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,334,0:669:99:0|1:195783836_T_G:12982,0,13056,13990,14061,28052:195783836	2	0	12	6
chr3	195783874	195783874	G	0	exonic	MUC4	.	.	.	.	.	665	374	471	9	3	492	0.395311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	83273.27	394	chr3	195783874	.	G	A,*	83273.27	.	AC=12,1;AF=0.353,0.029;AN=34;BaseQRankSum=-2.313e+00;DP=8997;ExcessHet=13.8672;FS=1.132;InbreedingCoeff=-0.5289;MLEAC=14,1;MLEAF=0.412,0.029;MQ=54.92;MQRankSum=-5.830e-01;QD=13.63;ReadPosRankSum=3.00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:359,372,0:731:99:0|1:195783836_T_G:14386,0,13955,15466,15074,30541:195783836	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,379,0,0,0:739:99:0|1:195783836_T_G:14515,0,13976,15599,15116,30715,15599,15116,30715,30715,15599,15116,30715,30715,30715:195783836	1	1	9	3
chr3	195783891	195783891	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	105790.68	446	chr3	195783891	.	G	A,*	105790.68	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=-3.408e+00;DP=9538;ExcessHet=18.9861;FS=1.113;InbreedingCoeff=-0.6327;MLEAC=15,1;MLEAF=0.395,0.026;MQ=55.85;MQRankSum=1.36;QD=13.99;ReadPosRankSum=1.52;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:427,337,0:764:99:1|0:195783836_T_G:12457,0,16753,13742,17768,31509:195783836	4	0	14	2
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:433,343,0:776:99:1|0:195783836_T_G:12908,0,17049,14211,18081,32293:195783836	2	0	15	3
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,368,0:600:99:0|1:195784652_C_G:14553,0,8511,15251,9616,24868:195784652	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,375,0:609:99:0|1:195784652_C_G:14755,0,8552,15460,9678,25138:195784652	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:234,0,372:606:99:0|1:195784652_C_G:14653,15358,25068,0,9710,8593:195784652	3	0	1	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,566,0:777:99:0|1:195784652_C_G:18245,0,5748,18877,7446,26324:195784652	0	4	8	6
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,1015,0:1018:99:.:.:35378,3046,0,35369,3046,35363	0	19	0	0
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,1234,0:1234:99:.:.:43802,3706,0,43802,3706,43802	0	15	5	0
chr3	195785644	195785644	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5936G:p.T1979R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.898	P	0.134	B	.	.	0.995	N	0.55	N	1.12	T	-1.070	T	0.046	T	0.071	0.666	7.567	.	0.488	2.743	6.707	0.022	0.0040481072639	.	.	0.0001	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs779935183	4.554e-05	0.0003	5.851e-05	3.222e-05	5.516e-05	3.637e-05	3.306e-05	4.343e-05	3.977e-05	0	0	0	0	0	0	5.516e-05	5.274e-05	1.278e-05	1.982e-05	8.564e-05	2.586e-05	1.352e-05	0.0002	5.27e-06	2.46e-06	4.9e-06	1.83e-06	0	0	0	0	0	0	0	2.951e-05	0	0.0002	0.011	0.63226	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.23389	N	.	.	.	1.12	0.39586	T	-0.67	0.19297	N	0.036	0.05287	-1.0702	0.09370	T	0.046	0.19760	T	7	0.08384368	0.13991	T	0.004048	0.09650	T	0.022	0.04323	0.242	0.17524	0.0297737177859	0.01360	7.400691630926471E-4	0.00068	.	.	0.525035858154	0.42335	T	.	.	.	-0.287393	0.09900	T	-0.650596	0.08912	T	0.0507102076503475	0.05625	T	0.840116	0.51512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.50799	B	.;.	.;.	1.972713	0.25058	16.62	0.88710950449380832	0.18194	0.14712	0.18546	N	AEFDBCI	0.112585	0.22248	N	-0.735209427202321	0.15038	0.7543554	-0.901548046224119	0.12057	0.6180414	8.41618344391763E-5	0.04703	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.526000	0.22680	0.049000	0.13974	0.177000	0.17786	0.004000	0.16614	0.000000	0.08366	0.028000	0.12845	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1420.06	769	chr3	195785644	.	G	C	1420.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.895e+00;DP=12563;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0292;MLEAC=1;MLEAF=0.024;MQ=58.98;MQRankSum=-4.331e+00;QD=1.22;ReadPosRankSum=3.14;SOR=0.730	GT:AD:DP:GQ:PL	0/1:988,175:1163:99:1434,0,29153	20	0	1	0
chr3	195786730	195786730	A	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T4850G:p.L1617R	.	.	422	1082	17	0	1	18	0.00779459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.995	D	0.987	D	.	.	1.000	N	0.55	N	0.94	T	-1.031	T	0.110	T	0.145	-0.225	2.912	.	0.077	-0.265	2.841	0.051	.	.	.	0.0101	0.0013	0.0068	0	0.0132	0.0100	0.0159	0.0120	0.0015653	242	154602	rs773515840	0.0008	0.0010	0.0008	0.0009	0.0036	0.0008	0.0008	0.0022	0.0018	0.0003	0.0003	0.0022	0	0.0033	0.0036	0.0007	0.0010	0.0007	0.0025	0.0033	0.0027	0.0024	0.0049	0.0023	0.0022	0.0034	0.0032	0.0005	0	0.0016	0.0047	0	0.0035	0.0035	0.0037	0.0039	0.0049	0.042	0.47745	D	0.097	0.39340	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.44065	T	-0.2	0.10136	N	0.205	0.31365	-1.0307	0.20227	T	0.110	0.39723	T	7	0.005106479	0.00110	T	.	.	.	0.051	0.14325	.	.	0.0920862733494	0.08535	0.006603376277569852	0.00628	.	.	0.481438726187	0.36255	T	.	.	.	-0.280231	0.10642	T	-0.640309	0.09647	T	0.00882367733843768	0.00109	T	0.840516	0.51562	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49295	B	.;.	.;.	2.219817	0.28328	17.76	0.78396116738620603	0.12283	0.00183	0.01069	N	AEFBI	0.051955	0.09228	N	-0.680219889845733	0.16587	0.8463703	-0.967042621438655	0.10530	0.5309426	2.07341824094782E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-1.551000	0.02282	-3.923000	0.02450	0.183000	0.17812	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.5024:0.497:2.0E-4:3.0E-4	2.841	0.05190	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	7616.55	486	chr3	195786730	.	A	C	7616.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.443e+00;DP=9736;ExcessHet=0.1128;FS=0.546;InbreedingCoeff=-0.0667;MLEAC=2;MLEAF=0.053;MQ=58.70;MQRankSum=0.419;QD=4.69;ReadPosRankSum=-2.640e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:744,185:929:99:0|1:195786730_A_C:2367,0,23893:195786730	17	0	2	2
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,7,6:25:42:0|1:195787238_C_*:258,0,439,42,218,528:195787238	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:18,6,10:34:99:0|1:195787238_C_*:346,155,906,0,455,657:195787238	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:138,0,84:222:99:0|1:195787508_T_C:3112,3527,9291,0,5763,5511:195787508	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:138,0,84:222:99:0|1:195787508_T_C:3112,3527,9291,0,5763,5511:195787508	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:138,0,84:222:99:0|1:195787508_T_C:3112,3527,9291,0,5763,5511:195787508	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:138,0,84:222:99:0|1:195787508_T_C:3112,3527,9291,0,5763,5511:195787508	5	1	0	6
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:14,3,14:31:99:.:.:501,445,1302,0,442,495	6	0	1	4
chr3	195787858	195787858	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3722T:p.A1241V	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	P	0.483	P	.	.	1.000	N	0.55	N	1.56	T	-1.063	T	0.045	T	0.178	0.458	6.489	.	-1.696	-0.727	5.179	0.057	0.00310099407166	.	.	0.0027	0.0060	0	0	0	0.0019	0	0.0043	2.59e-05	4	154602	rs200470030	0.0005	0.0029	0.0005	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0005	0.0007	0.0004	0.0012	0.0004	0.0006	0.0004	0.0003	0.0014	0.0004	0.0002	0.0015	7.729e-05	4.082e-05	0.0003	0.0001	0	0	0.0015	0	0	0	0	0.0002	0	0	0.011	0.55530	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.56	0.29866	T	-0.13	0.08971	N	0.1	0.08227	-1.0627	0.11093	T	0.045	0.19152	T	7	0.004917234	0.00105	T	0.003101	0.06726	T	0.057	0.16321	0.128	0.03331	0.0138822411134	0.00435	5.679174612668311E-5	0.00004	.	.	0.449930310249	0.31934	T	.	.	.	-0.280489	0.10615	T	-0.64068	0.09619	T	0.0155058956420158	0.00350	T	0.634936	0.24909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16099	B	.;.	.;.	-0.403259	0.02200	0.219	0.97017531814541358	0.32010	0.00104	0.00666	N	AEFI	0.027497	0.02257	N	-1.45731490531687	0.02160	0.09506899	-1.67235334149452	0.01265	0.05701407	1.15719927465646E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.222000	0.03074	-10.294000	0.00717	-1.958000	0.00478	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2757:0.0:0.7243:0.0	5.179	0.14479	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:14,0,3:31:56:.:.:56,124,926,0,819,857	11	0	2	5
chr3	195787858	195787858	G	0	exonic	MUC4	.	.	.	.	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	258.65	24	chr3	195787858	.	G	A,*	258.65	.	AC=2,3;AF=0.063,0.094;AN=32;BaseQRankSum=-1.668e+00;DP=327;ExcessHet=1.3000;FS=32.558;InbreedingCoeff=-0.1252;MLEAC=2,4;MLEAF=0.063,0.125;MQ=36.65;MQRankSum=-8.500e-02;QD=3.45;ReadPosRankSum=-4.920e-01;SOR=5.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:14,0,3:31:56:.:.:56,124,926,0,819,857	11	0	2	5
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,10,3:20:99:0|1:195787862_C_*:399,0,257,294,160,570:195787862	4	3	6	6
chr3	195787871	195787871	T	0	exonic	MUC4	.	.	.	.	.	729	783	3	6	1	16	0.00948767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	62.06	24	chr3	195787871	.	T	*,C	62.06	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=0.228;DP=321;ExcessHet=0.1336;FS=5.195;InbreedingCoeff=-0.1159;MLEAC=1,1;MLEAF=0.031,0.031;MQ=34.40;MQRankSum=0.208;QD=1.41;ReadPosRankSum=-3.100e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:12,3,5:20:61:.:.:141,61,579,0,307,405	14	0	1	5
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:13,3,14:30:99:0|1:195787862_C_*:504,430,1044,0,393,460:195787862	4	0	1	4
chr3	197938619	197938619	A	T	exonic	IQCG	.	nonsynonymous SNV	IQCG:NM_001134435:exon4:c.T444A:p.D148E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	1.0	D	0.999	D	0.023	N	0.999	N	2.32	M	1.08	T	-0.880	T	0.194	T	0.214	3.254	16.92	0.539	0.142	-0.102	3.665	0.096	0.00687161201847	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771570790	6.156e-06	6.156e-06	0	1.238e-05	0.0001	2.9e-06	2.1e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.54683	T	0.101	0.41913	T	0.984	0.90584	D	0.53	0.92359	P	0.022535	0.26616	N	0.410753	0.999945	0.21827	N	.	.	.	0.85	0.47815	T	-1.56	0.45042	N	0.196	0.21839	-0.8804	0.49730	T	0.194	0.54768	T	10	0.11957675	0.22631	T	0.006872	0.18177	T	0.096	0.27654	0.429	0.47680	0.581280949539	0.57799	0.08692749299722241	0.08626	0.245701231888	0.27094	0.411923706532	0.26723	T	0.015613	0.13063	T	-0.361559	0.04042	T	-0.520462	0.20248	T	0.153271421790123	0.17362	T	0.689731	0.29897	T	0.06851242	0.14931	0.051122412	0.08164	0.06851242	0.14931	0.051122412	0.08164	-3.349	0.14378	T	.	.	0.198	0.43748	B	.;.;.;.	.;.;.;.	0.934623	0.13100	9.603	0.98381276348200242	0.40853	0.03523	0.08707	N	AEFBI	0.055201	0.10103	N	-0.552725000507971	0.20398	1.075014	-0.739090145589927	0.15990	0.8437716	0.00182215591040596	0.08920	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.5	0.539	0.16348	0.050000	0.14004	-1.270000	0.05855	-0.091000	0.16156	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.5841:0.0:0.2603:0.1556	3.665	0.07788	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2166.98	34	chr3	197938619	.	A	T	2166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.867;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-1.441e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/1:98,93:191:99:2181,0,2236	20	0	1	0
chr4	443515	443515	C	T	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.G952A:p.A318T,	.	.	.	.	.	.	.	.	.	.	.	2674956	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.998	D	0.901	P	.	.	1.000	N	-0.4	N	5.43	T	-0.867	T	0.003	T	0.024	-1.574	0.014	-1.5	-3.444	-1.637	2.817	0.055	0.000757735717285	.	.	1.657e-05	0	8.639e-05	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs781880801	1.71e-05	1.779e-05	2.042e-05	1.375e-05	0.0005	1.174e-05	9.92e-06	0.0001	7.546e-05	2.988e-05	2.236e-05	0	0	0	0.0005	1.349e-05	4.968e-05	2.319e-05	2.06e-05	3.357e-05	1.342e-05	2.812e-05	6.805e-05	5.48e-06	2.52e-06	.	.	2.556e-05	0	6.805e-05	0	0	0	0	1.513e-05	0	0	0.03	0.45393	D	0.126	0.38450	T	0.998	0.73220	D	0.901	0.63994	P	.	.	.	.	1	0.08975	N	0.7	0.18542	N	5.43	0.00989	T	0.18	0.05035	N	0.038	0.10056	-0.8665	0.50790	T	0.003	0.01059	T	9	0.06101346	0.07585	T	7.58E-4	0.00549	T	0.055	0.15663	.	.	0.0297737177859	0.01360	0.003351787162162441	0.00313	0.0149161566634	0.01420	0.311741888523	0.12170	T	9.11E-4	0.00471	T	-0.469083	0.00861	T	-0.828716	0.01285	T	0.0508044813320901	0.05640	T	0.772623	0.40374	T	0.027471723	0.01945	0.046243798	0.06402	0.027471723	0.01945	0.046243798	0.06402	-6.42	0.49821	T	.	.	0.190	0.42273	B	.;.	.;.	0.567603	0.09362	6.142	0.3657403069978723	0.02360	0.00000	0.00017	N	AEFDGBHCI	0.012219	0.00128	N	-1.83914680447585	0.00456	0.01962858	-2.0238592508699	0.00273	0.01202801	0.999766247500046	0.42728	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.75	-1.5	0.08233	-3.522000	0.00494	.	.	-2.532000	0.00253	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2997:0.356:0.0:0.3443	2.817	0.05123	912	0.21483	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	1419.98	105	chr4	443515	.	C	T	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.805;DP=948;ExcessHet=0.0000;FS=2.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.82;MQRankSum=1.21;QD=9.86;ReadPosRankSum=-1.271e+00;SOR=0.791	GT:AD:DP:GQ:PL	0/1:84,60:144:99:1434,0,1999	20	0	1	0
chr4	681921	681921	T	C	exonic	MYL5	.	nonsynonymous SNV	MYL5:NM_002477:exon7:c.T449C:p.I150T	.	.	416	1078	28	0	0	28	0.0128205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.004	B	0.004	B	0.129	U	1.000	N	1.75	L	-1.15	T	-0.765	T	0.231	T	0.262	0.927	8.777	1.42	0.096	0.923	5.271	0.178	.	0.0059	0.00479233	0.0075	0.0018	0.0021	0	0.0017	0.0093	0.0070	0.0191	0.0059766	924	154602	rs141317789	0.0093	0.0085	0.0091	0.0095	0.0173	0.0091	0.0091	0.0161	0.0156	0.0013	0.0024	0.0012	3.283e-05	0.0014	0.0056	0.0102	0.0080	0.0173	0.0058	0.0058	0.0059	0.0057	0.0137	0.0055	0.0054	0.0111	0.0101	0.0019	0.0044	0.0033	0.0009	0.0002	0.0018	0.0034	0.0096	0.0043	0.0137	0.106	0.38633	T	0.121	0.36233	T	0.004	0.12183	B	0.004	0.10090	B	0.128701	0.18721	U	0.267510	0.999874	0.19925	N	2.295	0.65404	M	-1.15	0.77964	T	-1.77	0.50012	N	0.215	0.24010	-0.7649	0.57138	T	0.231	0.59694	T	10	0.009002179	0.00204	T	.	.	.	0.178	0.44724	.	.	0.411133732114	0.40725	0.25061042175913784	0.24975	0.0390873116171	0.04159	0.476215779781	0.35536	T	0.242099	0.61076	T	-0.394905	0.02500	T	-0.327056	0.41796	T	0.0069959243115661	0.00079	T	0.673433	0.28201	T	0.08375943	0.19357	0.06451452	0.12940	0.08375943	0.19356	0.06451452	0.12940	-8.27	0.62895	D	.	.	0.122	0.37577	B	.;.;.;.	.;.;.;.	1.121668	0.15074	11.57	0.87845361960388701	0.17525	0.06850	0.12875	N	AEFDBHCIJ	0.131200	0.25005	N	-0.76872521194048	0.14130	0.7013712	-0.830459363689203	0.13758	0.7154632	0.999999199229797	0.74766	0.789315	0.99827	0	0.606735	0.50208	0	0.768056	0.98339	0	0.699875	0.68795	0	.	.	4.0	1.42	0.21524	0.010000	0.13140	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.388000	0.26514	0.0:0.1008:0.1794:0.7199	5.271	0.14937	814	0.42100	.;.;.;EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1552.11	33	chr4	681921	.	T	C	1552.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.840e-01;DP=821;ExcessHet=0.1072;FS=2.887;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.65;SOR=0.471	GT:AD:DP:GQ:PL	0/1:44,37:81:99:814,0,1086	19	0	2	0
chr4	1841697	1841697	T	C	exonic	LETM1	.	nonsynonymous SNV	LETM1:NM_012318:exon3:c.A244G:p.I82V,	.	.	417	1073	30	2	0	34	0.0155963	.	.	720866	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.068	N	1.000	N	-0.55	N	.	.	-1.028	T	0.015	T	0.028	-0.918	0.401	-9.21	-1.907	-0.730	0.331	0.032	.	0.0028	0.00958466	0.0072	0.0002	0.0027	0.0001	0.0005	0.0037	0.01	0.0351	0.0065135	1007	154602	rs61759826	0.0047	0.0047	0.0037	0.0056	0.0344	0.0046	0.0045	0.0333	0.0329	0.0004	0.0037	0.0191	2.519e-05	0.0002	0.0097	0.0025	0.0055	0.0344	0.0034	0.0034	0.0033	0.0036	0.0269	0.0032	0.0031	0.0232	0.0217	0.0005	0.0011	0.0046	0.0219	0.0002	0.0004	0.0170	0.0030	0.0052	0.0269	0.529	0.07048	T	0.719	0.05363	T	0.0	0.02946	B	0.0	0.01387	B	0.068130	0.02219	N	1.895890	1	0.08975	N	0	0.06538	N	.	.	.	0.1	0.05810	N	0.129	0.12341	-1.0283	0.21005	T	0.015	0.05897	T	9	0.0027911067	0.00044	T	.	.	.	0.032	0.07718	.	.	0.128392430309	0.12331	0.14344038944705798	0.14267	0.344413011726	0.36371	0.312982559204	0.12358	T	0.001278	0.00758	T	-0.731799	0.00023	T	-0.798192	0.01948	T	0.00574088410594277	0.00063	T	0.152285	0.01295	T	0.01566273	0.00150	0.018345192	0.00053	0.011207705	0.00014	0.018345192	0.00053	-1.792	0.02485	T	.	.	0.059	0.00834	B	.	.	-1.964256	0.00110	0.002	0.22841734596420277	0.00938	0.02851	0.07609	N	AEFDBI	0.028796	0.02603	N	-1.79425779469062	0.00559	0.02409108	-1.86422658997944	0.00575	0.02551325	0.999999960001115	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.61	-9.21	0.00578	-1.176000	0.03209	-6.055000	0.01510	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2198:0.2521:0.2046:0.3235	0.331	0.00296	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3039.11	41	chr4	1841697	.	T	C	3039.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=989;ExcessHet=0.1072;FS=0.912;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=1.48;SOR=0.617	GT:AD:DP:GQ:PL	0/1:71,75:146:99:1744,0,1536	19	0	2	0
chr4	2932709	2932709	G	A	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001120:exon4:c.C422T:p.A141V	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.437	B	0.165	B	0.013	N	1.000	N	0.61	N	-1.45	T	-0.938	T	0.209	T	0.273	2.609	14.69	1.87	0.397	1.116	2.158	0.130	0.022539371501	.	.	2.644e-05	9.968e-05	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs754994254	1.035e-05	1.368e-05	1.235e-05	8.326e-06	0.0003	6.21e-06	4.93e-06	6.133e-05	2.536e-05	0	2.315e-05	0	5.043e-05	0	0.0003	1.807e-06	3.342e-05	7.122e-05	6.573e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.104	0.29959	T	0.165	0.30926	T	0.437	0.35811	B	0.163	0.35019	B	0.013306	0.28882	N	0.403070	0.999947	0.19238	N	1.39	0.34934	L	-1.45	0.80899	T	-1.5	0.39887	N	0.445	0.51940	-0.9384	0.42869	T	0.209	0.56826	T	10	0.11511102	0.21678	T	0.022539	0.45438	T	0.130	0.35528	.	.	0.376216005999	0.37235	0.43753453259029607	0.43670	0.0265829955864	0.02714	0.328746020794	0.14745	T	0.164284	0.54966	T	-0.168803	0.25415	T	-0.294978	0.45252	T	0.0368688552349653	0.03133	T	0.940506	0.77585	D	0.08562965	0.19871	0.06408031	0.12789	0.08562965	0.19870	0.06408031	0.12788	-10.407	0.76311	D	.	.	0.118	0.23986	B	.;.;.;.;.	.;.;.;.;.	2.286312	0.29238	18.06	0.99523778476790425	0.69407	0.15106	0.18747	N	AEFDBCIJ	0.314989	0.41969	N	-0.687225187867526	0.16385	0.8343098	-0.657210151278053	0.18034	0.9616542	0.999966334829895	0.48965	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.73	1.87	0.24559	1.670000	0.37118	2.542000	0.33220	-0.117000	0.14459	0.405000	0.26210	0.070000	0.22201	0.883000	0.42306	0.1021:0.2977:0.3421:0.2581	2.158	0.03585	614	0.66605	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	865.98	34	chr4	2932709	.	G	A	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.948e+00;DP=869;ExcessHet=0.0000;FS=5.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=2.11;SOR=0.282	GT:AD:DP:GQ:PL	0/1:47,37:84:99:880,0,1299	20	0	1	0
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,34,0,0,0,0:34:99:.:.:1499,1499,1499,104,104,0,1499,1499,104,1499,1499,1499,104,1499,1499,1499,1499,104,1499,1499,1499,1499,1499,104,1499,1499,1499,1499	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,34,0,0,0,0:34:99:.:.:1499,1499,1499,104,104,0,1499,1499,104,1499,1499,1499,104,1499,1499,1499,1499,104,1499,1499,1499,1499,1499,104,1499,1499,1499,1499	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,34,0,0,0,0:34:99:.:.:1499,1499,1499,104,104,0,1499,1499,104,1499,1499,1499,104,1499,1499,1499,1499,104,1499,1499,1499,1499,1499,104,1499,1499,1499,1499	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,34,0,0,0,0:34:99:.:.:1499,1499,1499,104,104,0,1499,1499,104,1499,1499,1499,104,1499,1499,1499,1499,104,1499,1499,1499,1499,1499,104,1499,1499,1499,1499	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,34,0,0,0,0:34:99:.:.:1499,1499,1499,104,104,0,1499,1499,104,1499,1499,1499,104,1499,1499,1499,1499,104,1499,1499,1499,1499,1499,104,1499,1499,1499,1499	3	1	1	0
chr4	6080248	6080248	G	A	exonic	JAKMIP1	.	nonsynonymous SNV	JAKMIP1:NM_001306134:exon6:c.C671T:p.T224M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.993	D	0.742	P	0.000	D	0.993	D	1.59	L	1.86	T	-0.967	T	0.089	T	0.325	3.929	19.99	4.34	2.144	4.922	16.235	0.087	0.0212130256957	7.7e-05	0.00139776	0.0004	9.735e-05	0.0007	0.0036	0	3.016e-05	0	0.0002	0.0003428	53	154602	rs144030215	0.0002	0.0002	0.0002	0.0002	0.0050	0.0002	0.0002	0.0044	0.0042	0.0001	0.0003	3.826e-05	0.0050	0	0.0003	4.496e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	9.623e-05	0	0	0	0.0033	0	0	7.351e-05	0	0.0002	0.005	0.63226	D	0.02	0.70582	D	0.98	0.60381	D	0.742	0.55764	P	0.000112	0.50451	D	0.084010	0.992511	0.41666	D	1.5	0.37844	L	1.86	0.32722	T	-2.12	0.48184	N	0.44	0.51761	-0.9671	0.37794	T	0.089	0.34160	T	10	0.0069595277	0.00158	T	0.021213	0.43943	T	0.087	0.25287	.	.	0.158540857583	0.15491	0.22879965081063333	0.22794	1.50609361847	0.87140	0.671338021755	0.63029	T	0.098856	0.40309	T	-0.440665	0.01282	T	-0.409439	0.32290	T	0.132059431744726	0.15571	T	0.979152	0.93285	D	0.0902595	0.21114	0.12899402	0.31025	0.0902595	0.21114	0.12899402	0.31024	-10.388	0.77517	D	0.18818698134785544	0.24565	0.215	0.44488	B	.;.;.;.;.	.;.;.;.;.	4.974719	0.82356	27.8	0.99887936106446118	0.96281	0.95123	0.63522	D	AEFBI	0.755810	0.69526	D	0.456381951444637	0.64566	4.714058	0.440509165652815	0.64110	4.658758	0.996804307513611	0.35023	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.34	4.34	0.51267	4.313000	0.58952	7.291000	0.58055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0:0.0:1.0:0.0	16.235	0.82189	988	0.01987	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	959.98	35	chr4	6080248	.	G	A	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.148;SOR=0.634	GT:AD:DP:GQ:PL	0/1:56,39:95:99:974,0,1300	20	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:89,49:138:99:528,0,1879	0	0	21	0
chr4	7192956	7192956	C	G	exonic	SORCS2	.	nonsynonymous SNV	SORCS2:NM_020777:exon1:c.C310G:p.P104A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.001	B	0.0	B	0.521	N	1.000	N	1.1	L	2.63	T	-0.959	T	0.024	T	0.121	0.371	6.015	2.36	1.722	-0.052	5.096	0.064	0.0423510533335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.362e-07	6.84e-07	1.632e-06	0	1.009e-06	0	0	.	.	0	0	0	0	0	0	1.009e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.12511	T	0.808	0.03968	T	0.001	0.07471	B	0.0	0.01387	B	0.521500	0.05205	N	4.110080	1	0.08975	N	0	0.06538	N	2.63	0.12884	T	-0.6	0.17834	N	0.141	0.14054	-0.9585	0.39461	T	0.024	0.10329	T	10	0.064643115	0.08604	T	0.042351	0.60420	D	0.064	0.18567	0.193	0.10437	0.251639045875	0.24756	0.13872086314199977	0.13795	1.79847734347	0.91603	0.770042002201	0.77431	T	0.003379	0.02788	T	-0.341709	0.05270	T	-0.728618	0.04390	T	0.0702445169975531	0.08685	T	0.377362	0.09032	T	0.053338576	0.10078	0.077946186	0.17413	0.053338576	0.10078	0.077946186	0.17412	-4.018	0.24072	T	.	.	0.062	0.01197	B	.	.	1.462623	0.18854	13.96	0.89422869294878937	0.18783	0.03896	0.09272	N	AEFDBHCI	0.021067	0.00898	N	-1.03770124081369	0.07831	0.3651266	-1.04857870003191	0.08737	0.4310187	0.99999935140306	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.34	2.36	0.28258	-0.228000	0.09119	1.122000	0.24252	0.419000	0.20781	0.000000	0.06391	1.000000	0.68203	0.032000	0.13371	0.2521:0.5383:0.2096:0.0	5.096	0.14069	988	0.01987	.	.	.	.	.	.	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	0.02381	541.98	28	chr4	7192956	.	C	G	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.668;DP=646;ExcessHet=0.0000;FS=5.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=-8.950e-01;SOR=0.195	GT:AD:DP:GQ:PL	0/1:16,19:35:99:556,0,489	20	0	1	0
chr4	8604114	8604114	G	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon3:c.G602A:p.S201N	.	.	422	1078	21	1	0	23	0.0105553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.988	D	0.585	P	0.000	D	1.000	D	2.03	M	2.71	T	-1.082	T	0.055	T	0.443	3.144	16.51	3.86	1.973	5.347	15.937	0.102	.	0.0007	0.000599042	0.0016	0.0002	0.0020	0.0002	0	0.0020	0.0119	0.0015	0.0010284	159	154602	rs143281934	0.0012	0.0012	0.0012	0.0012	0.0247	0.0012	0.0011	0.0214	0.0201	0.0008	0.0010	0.0005	2.557e-05	0	0.0247	0.0012	0.0026	0.0009	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0011	0.0010	0.0004	0	0.0016	0.0009	0	0	0.0136	0.0011	0.0052	0.0012	0.146	0.26519	T	0.137	0.36233	T	0.384	0.62325	B	0.175	0.50320	B	0.000000	0.84330	D	0.045184	0.999989	0.81001	D	2.325	0.66631	M	2.71	0.12055	T	-1.73	0.41046	N	0.717	0.77319	-1.0816	0.07041	T	0.055	0.23224	T	10	0.049276263	0.04494	T	.	.	.	0.102	0.29158	.	.	0.12205267543	0.11705	0.7750065254046804	0.77450	0.0119562494759	0.01133	0.662676036358	0.61792	T	0.053015	0.29325	T	-0.401507	0.02263	T	-0.384891	0.35148	T	0.196342617273331	0.20211	T	0.758124	0.38180	T	0.52383	0.68479	0.47627032	0.69653	0.52383	0.68480	0.47627032	0.69654	-9.192	0.68924	D	0.2593065449522952	0.35027	0.317	0.55978	B	.;.;.	.;.;.	3.651758	0.51831	23.2	0.99622072563463493	0.75473	0.81987	0.41287	D	AEFDBHCI	0.784555	0.71520	D	0.293067813208489	0.55797	3.743764	0.311107533820842	0.56190	3.782178	0.999999838434281	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	3.86	3.86	0.43689	5.780000	0.68607	8.162000	0.76739	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	15.937	0.79512	982	0.03397	Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase 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	0.04762	2378.11	34	chr4	8604114	.	G	A	2378.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.171;DP=994;ExcessHet=0.1072;FS=3.283;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=1.20;SOR=0.929	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1209,0,1086	19	0	2	0
chr4	15004125	15004125	-	GGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGG:p.F488Gfs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.416e-05	0.0011	7.738e-05	7.09e-05	0.0003	6.203e-05	5.787e-05	0.0001	0.0001	0.0003	2.912e-05	0.0002	3.182e-05	4.243e-05	0	7.362e-05	0.0001	1.291e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4,0,0:41:21:0|1:15004125_C_CGGGGGGGGGGGGGGGG:21,133,1687,0,1554,1543,133,1687,1554,1687,133,1687,1554,1687,1687:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGGGGG:p.F488Gfs*69	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54e-05	0.0002	1.458e-05	1.623e-05	0.0001	9.9e-06	8.4e-06	2.879e-05	1.498e-05	0.0001	0	4.257e-05	3.181e-05	2.121e-05	0	1.319e-05	1.792e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4,0,0:41:21:0|1:15004125_C_CGGGGGGGGGGGGGGGG:21,133,1687,0,1554,1543,133,1687,1554,1687,133,1687,1554,1687,1687:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22	.	.	373	1134	5	0	10	15	0.00219974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0031	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	8.738e-05	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	2.584e-05	6.656e-06	0.0001	1.299e-05	0	2.421e-05	0	0	.	.	2.421e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4,0,0:41:21:0|1:15004125_C_CGGGGGGGGGGGGGGGG:21,133,1687,0,1554,1543,133,1687,1554,1687,133,1687,1554,1687,1687:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGGGGGGGG:p.F488Gfs*70	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-06	5.542e-05	4.373e-06	2.951e-06	3.623e-05	1.07e-06	7.8e-07	3.1e-07	1.2e-07	3.623e-05	0	4.257e-05	0	0	0	1.885e-06	1.792e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4,0,0:41:21:0|1:15004125_C_CGGGGGGGGGGGGGGGG:21,133,1687,0,1554,1543,133,1687,1554,1687,133,1687,1554,1687,1687:15004125	16	0	1	0
chr4	22747325	22747325	G	A	exonic	GBA3	.	unknown	UNKNOWN,	.	.	422	1027	68	5	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00898562	0.0097	0.0015	0.0022	0.0001	0.0064	0.0082	0.0136	0.0333	0.0089844	1389	154602	rs187070546	0.0078	0.0078	0.0068	0.0088	0.0298	0.0076	0.0076	0.0288	0.0285	0.0007	0.0032	0.0192	0.0002	0.0070	0.0229	0.0064	0.0085	0.0298	0.0062	0.0062	0.0056	0.0068	0.0299	0.0059	0.0058	0.0259	0.0244	0.0010	0.0077	0.0040	0.0150	0.0002	0.0067	0.0170	0.0081	0.0071	0.0299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.45615	.	.	.	.	.	.	.	0.0077457726	0.00176	T	.	.	.	.	.	.	.	0.590936018357	0.58769	.	.	.	.	0.394991517067	0.24370	T	.	.	.	-0.538857	0.00340	T	-0.525178	0.19772	T	.	.	.	0.965953	0.87464	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.20663	B	.	.	2.545635	0.32935	19.19	0.99581465725826057	0.73040	0.87301	0.46799	D	AEFI	0.690707	0.65095	D	.	.	.	.	.	.	2.13531608868602E-4	0.05997	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	2.773000	0.47370	6.605000	0.56069	0.676000	0.76740	0.977000	0.34929	1.000000	0.68203	0.984000	0.60418	0.188:0.0:0.812:0.0	9.88	0.40396	836	0.38045	.	.	.	.	.	.	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	0.02381	368.98	33	chr4	22747325	.	G	A	368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.423e+00;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.58;ReadPosRankSum=-9.680e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:27,16:43:99:383,0,795	20	0	1	0
chr4	39922750	39922750	-	AG	splicing	PDS5A	NM_001100399:exon6:c.528-2->CT;NM_001100400:exon6:c.528-2->CT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	76.94	31	chr4	39922750	.	T	TAG	76.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.322e+00;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.00;SOR=0.586	GT:AD:DP:GQ:PL	0/1:17,5:22:91:91,0,501	20	0	1	0
chr4	48382889	48382889	A	G	exonic	SLAIN2	.	nonsynonymous SNV	SLAIN2:NM_020846:exon5:c.A1184G:p.H395R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.996	D	0.000	D	1.000	D	1.845	L	.	.	-0.240	T	0.399	T	0.866	3.859	19.60	5.75	2.192	8.476	16.062	0.364	0.00874731198867	.	.	9.391e-06	0	0	0	0	0	0	6.854e-05	6.5e-06	1	154602	rs764840594	1.37e-06	1.368e-06	0	2.754e-06	1.162e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9e-07	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.259	0.23097	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	.	.	.	-2.5	0.59710	D	0.862	0.85872	-0.2398	0.76631	T	0.399	0.75116	T	9	0.68695265	0.71620	D	0.008747	0.23099	T	0.364	0.68407	0.235	0.16457	0.413450081142	0.40960	0.40028690022359475	0.39943	0.876304150873	0.69580	0.741021037102	0.73123	T	0.20737	0.56699	T	0.30814	0.83604	D	0.305475	0.88449	D	0.52733333324472	0.33635	D	0.959804	0.84855	D	0.46804908	0.65170	0.36138508	0.61564	0.46804908	0.65171	0.36138508	0.61563	-2.146	0.03787	T	.	.	0.284	0.55103	B	.;.	.;.	3.781050	0.54365	23.5	0.99642324545540328	0.76756	0.99368	0.95115	D	AEFGBI	0.903628	0.85295	D	0.784053674943071	0.85098	8.475948	0.783944652109089	0.88656	9.664472	0.999999999974511	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	8.470000	0.90251	9.308000	0.79934	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	16.062	0.80648	280	0.88949	.;.	.	.	.	.	.	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	0.02381	1509.98	35	chr4	48382889	.	A	G	1509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.326;DP=800;ExcessHet=0.0000;FS=1.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.196;SOR=0.961	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1524,0,1583	20	0	1	0
chr4	52744874	52744874	C	T	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.G647A:p.R216Q	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00795220505035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213190127	2.718e-05	2.386e-05	4.345e-05	1.339e-05	0.0002	1.631e-05	1.293e-05	0.0001	8.99e-05	0	8.642e-05	0	0.0002	0	0	9.464e-06	3.266e-05	0	2.631e-05	2.628e-05	2.572e-05	2.693e-05	5.882e-05	8.15e-06	5.15e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.882e-05	0	0	.	.	.	.	.	.	0.016	0.17332	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.067	0.03956	.	.	.	.	.	.	.	0.036430657	0.01941	T	0.007952	0.21084	T	.	.	.	.	0.119812018005	0.11559	0.21336084767657723	0.21252	.	.	0.21949121356	0.01281	T	7.8E-5	0.00006	T	-0.423229	0.01632	T	-0.723171	0.04644	T	.	.	.	0.565643	0.19997	T	0.03233449	0.03238	0.06062532	0.11577	0.03233449	0.03238	0.06062532	0.11576	-3.478	0.16125	T	.	.	0.078	0.14201	B	.;.	.;.	0.989676	0.13675	10.21	0.98572567103399411	0.43128	0.00512	0.02396	N	AEFBHCI	0.020654	0.00838	N	.	.	.	.	.	.	8.46296129746789E-4	0.07902	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	1.03	-0.0802	0.13041	-0.663000	0.05398	-0.320000	0.09971	-0.339000	0.05715	0.040000	0.20979	0.000000	0.08366	0.700000	0.34141	0.0:0.3881:0.0:0.6119	2.728	0.04896	333	0.86326	.;.	.	.	.	.	.	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	0.02381	1358.98	92	chr4	52744874	.	C	T	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.547;DP=1256;ExcessHet=0.0000;FS=0.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-9.700e-02;SOR=0.738	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1373,0,1483	20	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.500	N	1.000	N	0.11	N	-1.0	T	-0.935	T	0.210	T	0.088	-2.061	0.006	-1.83	-0.366	-0.114	13.716	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	733.66	116	chr4	53145477	.	T	C	733.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.026e+00;DP=1805;ExcessHet=2.5830;FS=148.015;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=0.708;SOR=11.035	GT:AD:DP:GQ:PL	0/1:112,36:148:99:124,0,2296	14	0	7	0
chr4	73442372	73442372	A	C	exonic	AFP	.	nonsynonymous SNV	AFP:NM_001134:exon5:c.A559C:p.K187Q	Alpha-fetoprotein deficiency, Autosomal recessive	.	0	1434	86	2	0	90	0.030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.79	P	0.541	P	0.000	D	0.645	D	2.3	M	0.85	T	-0.776	T	0.090	T	0.215	2.514	14.37	4.11	2.250	0.772	8.108	0.090	.	0.0085	0.00579073	0.0107	0.0015	0.0046	0	0.0056	0.0148	0.0111	0.0120	0.0102198	1580	154602	rs35765619	0.0100	0.0100	0.0099	0.0101	0.0473	0.0098	0.0098	0.0427	0.0409	0.0021	0.0061	0.0598	0.0001	0.0062	0.0473	0.0092	0.0150	0.0114	0.0086	0.0086	0.0084	0.0089	0.0122	0.0082	0.0081	0.0108	0.0102	0.0018	0.0351	0.0122	0.0614	0	0.0041	0.0340	0.0095	0.0208	0.0122	0.205	0.20078	T	0.33	0.19721	T	0.79	0.44599	P	0.49	0.47330	P	0.000023	0.55875	D	0.114545	0.645196	0.32912	D	1.83	0.48079	L	0.85	0.47130	T	-0.26	0.11185	N	0.149	0.15187	-0.7760	0.56526	T	0.090	0.34683	T	10	0.0028496683	0.00045	T	.	.	.	0.090	0.26093	.	.	.	.	0.10880772504355984	0.10809	0.243530582748	0.26857	0.423839718103	0.28365	T	0.111791	0.42756	T	-0.543176	0.00321	T	-0.542623	0.18039	T	0.0308828407571469	0.02127	T	0.712529	0.32403	T	0.2085064	0.43089	0.17459998	0.39867	0.18125178	0.39286	0.17459998	0.39866	-3.377	0.14748	T	.	.	0.099	0.18828	B	.;.	.;.	2.461662	0.31716	18.82	0.98290296841271174	0.39945	0.67771	0.33554	D	AEFDBHCI	0.226950	0.35082	N	0.188298087251018	0.50637	3.251831	0.186493612588919	0.49107	3.117882	0.999999999849649	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.33	4.11	0.47350	0.459000	0.21619	3.047000	0.36105	0.691000	0.84096	0.075000	0.22209	0.992000	0.31684	0.953000	0.50222	0.9082:0.0:0.0918:0.0	8.108	0.30059	783	0.47268	Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	rs35765619	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	0.04762	2852.11	40	chr4	73442372	.	A	C	2852.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.699;DP=868;ExcessHet=0.1072;FS=1.092;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.632;SOR=0.793	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1397,0,1067	19	0	2	0
chr4	75564323	75564323	T	C	exonic	ODAPH	.	nonsynonymous SNV	ODAPH:NM_178497:exon2:c.T277C:p.S93P,	.	.	9	1495	18	0	0	18	0.00598404	.	.	709460	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.245	N	1.000	N	0	N	1.54	T	-1.006	T	0.023	T	.	1.064	9.346	2.51	0.539	1.231	6.291	0.023	.	0.0091	0.00299521	0.0062	0.0012	0.0027	0.0002	0.0071	0.0090	0.0066	0.0035	0.0064488	997	154602	rs140756390	0.0092	0.0092	0.0094	0.0090	0.0107	0.0091	0.0090	0.0105	0.0105	0.0013	0.0044	0.0060	2.519e-05	0.0061	0.0045	0.0107	0.0079	0.0034	0.0067	0.0067	0.0069	0.0066	0.0102	0.0064	0.0062	0.0096	0.0094	0.0015	0.0011	0.0088	0.0040	0.0002	0.0075	0.0068	0.0102	0.0090	0.0029	0.978	0.02017	T	0.687	0.05976	T	0.0	0.02946	B	0.0	0.01387	B	0.244876	0.15633	N	0.530450	1	0.08975	N	.	.	.	1.54	0.30133	T	2.5	0.00234	N	0.062	0.03392	-1.0065	0.28004	T	0.023	0.09741	T	9	0.0036925077	0.00068	T	.	.	.	0.023	0.04649	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	3.92E-4	0.00124	T	-0.496481	0.00598	T	-0.47426	0.25058	T	0.000306451671654251	0.00002	T	0.251175	0.03802	T	0.05880656	0.11876	0.094854295	0.22470	0.061065245	0.12601	0.094854295	0.22469	-2.003	0.03192	T	0.029427085984377505	0.00071	0.059	0.00834	B	.	.	1.256510	0.16537	12.60	0.90067394681347235	0.19352	0.00037	0.00318	N	AEFI	0.009759	0.00060	N	-1.11947166504721	0.06297	0.2895017	-1.09129166011743	0.07871	0.3846185	0.0118062988804829	0.12238	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.27	2.51	0.29435	1.239000	0.32322	0.844000	0.22071	-0.201000	0.08892	0.016000	0.19238	0.000000	0.08366	0.222000	0.22517	0.0:0.762:0.0:0.238	6.291	0.20269	938	0.14419	.	NUP54	Thyroid	.	.	.	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	0.02381	2646.98	39	chr4	75564323	.	T	C	2646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.021e+00;DP=926;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=-1.494e+00;SOR=0.676	GT:AD:DP:GQ:PL	0/1:108,105:213:99:2661,0,2854	20	0	1	0
chr4	78374165	78374165	A	C	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon25:c.A3065C:p.K1022T	Fraser syndrome, Autosomal recessive	.	1	1511	9	1	0	11	0.00362677	.	.	691609	FRAS1-related_disorder|Inborn_genetic_diseases|Fraser_syndrome_1|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.016	B	0.000	D	1.000	D	0.18	N	-1.04	T	-0.730	T	0.261	T	0.29	2.009	12.68	5.94	2.275	6.413	16.069	0.302	0.0174386683802	0.0002	0.000998403	0.0009	0	0.0008	0	0	0.0005	0.0022	0.0038	0.0007827	121	154602	rs201252328	0.0005	0.0005	0.0004	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	5.986e-05	0.0005	0.0008	0	1.882e-05	0.0028	0.0003	0.0005	0.0042	0.0004	0.0004	0.0004	0.0004	0.0035	0.0003	0.0003	0.0022	0.0018	2.406e-05	0	0.0005	0.0020	0	0	0.0068	0.0004	0	0.0035	0.183	0.21718	T	0.02	0.58613	D	.	.	.	.	.	.	0.000009	0.62929	D	0.112241	0.995851	0.23183	N	0.545	0.13751	N	-1.04	0.76561	T	-1.5	0.36586	N	0.211	0.23506	-0.7302	0.58953	T	0.261	0.63219	T	10	0.006578952	0.00149	T	0.017439	0.39139	T	0.302	0.62290	.	.	0.648203075438	0.64528	0.3444606550941687	0.34360	.	.	0.391649365425	0.23902	T	.	.	.	-0.350747	0.04680	T	-0.279336	0.46872	T	0.040619998903745	0.03803	T	0.324568	0.07588	T	.	.	.	.	.	.	.	.	-3.732	0.19791	T	.	.	0.124	0.26700	B	.;.	.;.	3.120494	0.42125	21.5	0.98598656484140901	0.43480	0.98705	0.85807	D	AEFBI	0.659654	0.63049	D	-0.185918385445342	0.33719	1.916303	0.010065567058872	0.40182	2.393944	0.99999999714086	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.94	5.94	0.96165	6.582000	0.73941	8.080000	0.76477	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.144000	0.20092	1.0:0.0:0.0:0.0	16.069	0.80716	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1329.98	33	chr4	78374165	.	A	C	1329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.055e+00;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-6.700e-02;SOR=0.645	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1344,0,1612	20	0	1	0
chr4	78499901	78499901	G	A	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon61:c.G9296A:p.R3099Q,	Fraser syndrome, Autosomal recessive	YES	0	1490	30	2	0	34	0.0112807	.	.	691618	FRAS1-related_disorder|Fraser_syndrome_1|Inborn_genetic_diseases|not_provided|not_specified	.|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.997	D	0.000	D	1.000	D	0.765	N	1.72	T	-1.058	T	0.117	T	0.882	4.200	21.8	5.91	2.802	9.727	20.298	0.303	0.0257026602405	0.0006	0.00119808	0.0014	0	0.0012	0.0001	0.0002	0.0013	0.0011	0.0042	0.0012484	193	154602	rs149692526	0.0008	0.0008	0.0007	0.0009	0.0123	0.0008	0.0007	0.0100	0.0091	9.146e-05	0.0010	0.0061	2.572e-05	3.809e-05	0.0123	0.0004	0.0015	0.0036	0.0009	0.0009	0.0008	0.0009	0.0046	0.0008	0.0007	0.0031	0.0026	7.216e-05	0	0.0011	0.0098	0	0	0.0238	0.0007	0.0024	0.0046	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.811	0.80669	-1.0577	0.12337	T	0.117	0.41253	T	10	0.020795912	0.00485	T	0.025703	0.48656	D	.	.	.	.	0.760667659914	0.75848	0.39087212594723714	0.39002	.	.	0.711399674416	0.68796	T	.	.	.	0.0934964	0.63581	D	0.35816	0.90632	D	0.0831080965044587	0.10380	T	0.914509	0.69499	D	.	.	.	.	.	.	.	.	-7.028	0.54238	T	.	.	0.087	0.11076	B	.	.	5.329954	0.89445	30	0.99936628813346795	0.99621	0.99074	0.90844	D	AEFBI	0.879822	0.80603	D	0.476479058648868	0.65720	4.858043	0.561012832698401	0.72167	5.767316	0.999999999143538	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	9.860000	0.98420	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.682000	0.33600	0.0:0.0:1.0:0.0	20.298	0.98571	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	574.98	36	chr4	78499901	.	G	A	574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=773;ExcessHet=0.0000;FS=2.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=0.268;SOR=1.201	GT:AD:DP:GQ:PL	0/1:18,21:39:99:589,0,422	20	0	1	0
chr4	78507550	78507550	C	T	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon62:c.C9446T:p.T3149M,	Fraser syndrome, Autosomal recessive	.	0	1490	30	2	0	34	0.0112807	.	.	691619	not_specified|not_provided|Fraser_syndrome_1|FRAS1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.965	D	0.000	D	1.000	D	1.1	L	-1.26	T	-0.025	T	0.486	T	0.88	3.142	16.51	5.11	2.552	3.096	13.238	0.557	0.0343286975373	0.0006	0.00119808	0.0014	0.0003	0.0012	0	0.0002	0.0013	0.0011	0.0038	0.0012872	199	154602	rs150680111	0.0008	0.0008	0.0007	0.0009	0.0122	0.0008	0.0008	0.0099	0.0090	0.0005	0.0009	0.0062	0	1.874e-05	0.0122	0.0005	0.0015	0.0037	0.0009	0.0009	0.0009	0.0010	0.0044	0.0008	0.0008	0.0029	0.0024	0.0003	0	0.0011	0.0098	0	0	0.0172	0.0007	0.0028	0.0044	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.000047	0.53742	D	0.123342	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.624	0.63883	-0.0249	0.81738	T	0.486	0.80431	T	10	0.014242351	0.00300	T	0.034329	0.55601	D	.	.	.	.	0.492475246742	0.48882	0.44849865841205155	0.44767	.	.	0.508672654629	0.40037	T	.	.	.	0.0373262	0.56693	T	0.277162	0.86970	D	0.0955655127763748	0.11862	T	0.940906	0.77861	D	.	.	.	.	.	.	.	.	-6.48	0.50132	T	.	.	0.083	0.09045	B	.	.	4.239587	0.64268	24.7	0.99857658900140112	0.93639	0.90348	0.51452	D	AEFBI	0.428277	0.49187	N	0.396309557505898	0.61221	4.320375	0.381480110657096	0.60424	4.229774	0.999997224973728	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.11	5.11	0.69188	3.140000	0.50281	4.019000	0.41233	0.549000	0.26987	0.989000	0.36753	0.989000	0.31174	0.385000	0.26447	0.0:0.9231:0.0:0.0769	13.238	0.59410	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1350.98	40	chr4	78507550	.	C	T	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=841;ExcessHet=0.0000;FS=2.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-3.500e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1365,0,1487	20	0	1	0
chr4	85972140	85972140	C	T	exonic	ARHGAP24	.	nonsynonymous SNV	ARHGAP24:NM_001346093:exon3:c.C125T:p.A42V	.	.	411	1109	1	1	0	3	0.00135074	.	.	3282742	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.981	D	0.856	P	0.000	D	1.000	D	1.555	L	0.95	T	-0.840	T	0.203	T	0.735	4.282	22.4	5.48	2.567	7.685	19.351	0.190	0.0203155919161	.	.	7.43e-05	0	0	0	0	3.003e-05	0	0.0004	5.82e-05	9	154602	rs760970265	4.242e-05	4.241e-05	2.859e-05	5.638e-05	0.0006	3.377e-05	3.065e-05	0.0005	0.0004	2.987e-05	2.236e-05	0	2.519e-05	0	0	4.497e-06	6.623e-05	0.0006	5.933e-05	5.916e-05	7.726e-05	4.052e-05	0.0005	3.086e-05	2.217e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0	0.0005	0	0.002	0.78490	D	0.008	0.72224	D	0.907	0.59675	P	0.665	0.61001	P	0.000060	0.53742	D	0.169713	1	0.81001	D	1.315	0.32790	L	0.95	0.43279	T	-3.2	0.66206	D	0.697	0.70175	-0.8404	0.52620	T	0.203	0.56073	T	10	0.35636705	0.52377	T	0.020316	0.42890	T	0.190	0.46781	0.57	0.69299	0.660676212287	0.65783	0.35592191526004957	0.35506	0.381722051695	0.39521	0.743844091892	0.73539	T	0.164641	0.51018	T	-0.165473	0.25922	T	-0.126035	0.61303	T	0.392708957195282	0.28667	T	0.988564	0.96090	D	0.436703	0.63189	0.4725988	0.69426	0.436703	0.63189	0.4725988	0.69427	-12.443	0.86942	D	.	.	0.548	0.67564	A	.;.;.;.;.;.	.;.;.;.;.;.	4.256745	0.64661	24.7	0.99797405919036553	0.88283	0.98589	0.84429	D	AEFBI	0.908430	0.86373	D	0.608431182495738	0.73706	6.010331	0.643035414532747	0.78095	6.807407	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.772000	0.84213	4.748000	0.44643	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	19.351	0.94373	445	0.79730	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	37	chr4	85972140	.	C	T	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=807;ExcessHet=0.0000;FS=3.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=0.245;SOR=0.409	GT:AD:DP:GQ:PL	0/1:63,46:109:99:1055,0,1384	20	0	1	0
chr4	87126176	87126176	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon11:c.C1544T:p.P515L	.	.	9	1499	14	0	0	14	0.00464807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.969	D	0.839	P	0.019	N	1.000	D	1.67	L	-0.08	T	-0.422	T	0.285	T	0.298	3.504	17.91	5.47	2.569	2.682	18.928	0.212	0.031354613247	0.0039	0.00239617	0.0039	0.0009	0.0071	0	0.0023	0.0051	0.0077	0.0013	0.003771	583	154602	rs144038967	0.0042	0.0042	0.0043	0.0040	0.0071	0.0041	0.0040	0.0064	0.0062	0.0008	0.0071	0.0042	0	0.0024	0.0042	0.0045	0.0044	0.0017	0.0040	0.0040	0.0039	0.0042	0.0144	0.0038	0.0037	0.0128	0.0122	0.0007	0.0011	0.0144	0.0029	0.0002	0.0025	0.0068	0.0044	0.0123	0.0006	0.01	0.56456	D	0.008	0.67890	D	0.946	0.53363	P	0.839	0.60107	P	0.019188	0.27313	N	0.317510	1	0.81001	D	1.985	0.53793	M	-0.08	0.63911	T	-4.24	0.76015	D	0.17	0.25989	-0.4224	0.71313	T	0.285	0.65724	T	10	0.006706327	0.00152	T	0.031355	0.53460	D	0.212	0.50341	.	.	0.727231234461	0.72481	0.2872403681460219	0.28637	0.0505304490514	0.05550	0.3721152246	0.21135	T	0.595426	0.86956	D	-0.3689	0.03650	T	-0.299368	0.44792	T	0.0199449092445223	0.00695	T	0.937606	0.76517	D	0.13919996	0.32163	0.16814873	0.38752	0.13919996	0.32163	0.16814873	0.38751	-5.565	0.42471	T	.	.	0.110	0.21315	B	.;.;.	.;.;.	3.591476	0.50680	23.0	0.99715031766378337	0.81633	0.91416	0.53489	D	AEFDBCI	0.286492	0.39886	N	0.529922966550973	0.68869	5.276787	0.52408829931624	0.69614	5.385736	0.999999864991586	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	3.068000	0.49716	4.047000	0.41475	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:1.0:0.0:0.0	18.928	0.92525	758	0.50837	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1534.98	33	chr4	87126176	.	C	T	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.872;DP=818;ExcessHet=0.0000;FS=3.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.565e+00;SOR=0.462	GT:AD:DP:GQ:PL	0/1:64,59:123:99:1549,0,1640	20	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,13,10:23:99:0|1:87615730_ATAG_A:1640,457,375,577,0,509:87615730	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,13,10:23:99:0|1:87615730_ATAG_A:1632,458,501,569,0,500:87615730	0	2	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	4716.91	13	chr4	87615936	.	A	G,*	4716.91	.	AC=11,7;AF=0.458,0.292;AN=24;BaseQRankSum=1.09;DP=703;ExcessHet=0.4078;FS=6.971;InbreedingCoeff=0.0517;MLEAC=16,10;MLEAF=0.667,0.417;MQ=57.27;MQRankSum=-3.640e+00;QD=9.93;ReadPosRankSum=0.431;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,9,12:21:99:0|1:87615883_A_G:882,504,477,378,0,342:87615883	0	3	4	9
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	3111.82	11	chr4	87615956	.	T	C,*	3111.82	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=1.06;DP=620;ExcessHet=2.6845;FS=12.079;InbreedingCoeff=-0.0149;MLEAC=17,9;MLEAF=0.708,0.375;MQ=57.02;MQRankSum=-4.168e+00;QD=7.06;ReadPosRankSum=-1.842e+00;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,4,0:17:99:0|1:87615883_A_G:130,0,494,168,506,674:87615883	0	3	5	9
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	3076.15	8	chr4	87615962	.	C	T,*	3076.15	.	AC=12,6;AF=0.462,0.231;AN=26;BaseQRankSum=0.443;DP=591;ExcessHet=0.7589;FS=9.385;InbreedingCoeff=0.0947;MLEAC=17,8;MLEAF=0.654,0.308;MQ=56.96;MQRankSum=-4.002e+00;QD=7.24;ReadPosRankSum=-1.720e+00;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,19,0:19:50:1|1:87615883_A_G:687,50,0,687,50,687:87615883	1	4	4	8
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	1753.25	7	chr4	87615971	.	C	T,*	1753.25	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=0.430;DP=572;ExcessHet=0.9330;FS=12.644;InbreedingCoeff=-0.0283;MLEAC=16,9;MLEAF=0.667,0.375;MQ=57.48;MQRankSum=-4.485e+00;QD=4.26;ReadPosRankSum=-1.839e+00;SOR=1.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,3,0:15:97:0|1:87615883_A_G:97,0,334,126,343,469:87615883	0	3	5	9
chr4	87616001	87616001	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	.	1074	417	12	15	4	46	0.0479452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	71.45	5	chr4	87616001	.	T	A,*	71.45	.	AC=2,6;AF=0.050,0.150;AN=40;DP=491;ExcessHet=0.0003;FS=0.000;InbreedingCoeff=0.5399;MLEAC=1,7;MLEAF=0.025,0.175;MQ=59.50;QD=0.48;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2,0:2:6:1|1:87615883_A_G:90,6,0,90,6,90:87615883	15	1	0	1
chr4	87616007	87616007	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	.	1058	432	2	4	26	36	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	105.75	7	chr4	87616007	.	T	C,*	105.75	.	AC=4,6;AF=0.095,0.143;AN=42;DP=498;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6744;MLEAC=2,6;MLEAF=0.048,0.143;MQ=53.79;QD=0.70;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2,0:2:6:1|1:87615883_A_G:90,6,0,90,6,90:87615883	15	2	0	0
chr4	87616008	87616008	G	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	.	1045	447	12	14	4	44	0.0428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	71.22	7	chr4	87616008	.	G	A,*	71.22	.	AC=2,4;AF=0.050,0.100;AN=40;DP=501;ExcessHet=0.0011;FS=0.642;InbreedingCoeff=0.4327;MLEAC=1,4;MLEAF=0.025,0.100;MQ=59.50;QD=0.52;SOR=0.800	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2,0:2:6:1|1:87615883_A_G:90,6,0,90,6,90:87615883	16	1	0	1
chr4	87662593	87662593	G	A	exonic	DMP1	.	nonsynonymous SNV	DMP1:NM_001079911:exon5:c.G767A:p.R256H	Hypophosphatemic rickets, AR, Autosomal recessive	.	0	1507	14	1	0	16	0.00528053	.	.	299765	Hypophosphatemic_rickets,_autosomal_recessive,_1|DMP1-related_disorder|not_provided	MONDO:MONDO:0009430,MedGen:C4551495,OMIM:241520,Orphanet:289176|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.104	B	0.126	B	0.076	N	1.000	N	0.75	N	0.74	T	-1.035	T	0.057	T	0.147	-0.308	2.534	1.02	0.226	-0.144	6.963	0.025	0.014905615757	0.0022	0.00119808	0.0018	0.0004	0.0031	0.0001	0.0002	0.0026	0.0022	0.0002	0.0019146	296	154602	rs145237146	0.0019	0.0019	0.0019	0.0019	0.0069	0.0019	0.0018	0.0052	0.0046	0.0004	0.0045	0.0014	2.519e-05	0.0001	0.0069	0.0021	0.0023	0.0004	0.0020	0.0020	0.0019	0.0021	0.0078	0.0018	0.0017	0.0066	0.0062	0.0006	0	0.0078	0.0017	0	0	0.0034	0.0021	0.0019	0.0002	0.158	0.23905	T	0.309	0.20680	T	0.104	0.25941	B	0.126	0.32692	B	0.076101	0.21182	N	0.441060	1	0.08975	N	1.865	0.49290	L	0.74	0.50459	T	-3.44	0.67477	D	0.047	0.05037	-1.0346	0.18983	T	0.057	0.23866	T	10	0.005351305	0.00117	T	0.014906	0.35329	T	0.025	0.05312	.	.	0.454145904683	0.45038	0.07994858060983814	0.07929	0.0685784815088	0.07678	0.183100283146	0.00126	T	0.078318	0.35863	T	-0.579956	0.00193	T	-0.600152	0.12799	T	0.00803769021244275	0.00095	T	0.765223	0.39255	T	0.05139111	0.09430	0.052140538	0.08532	0.04348404	0.06785	0.05318207	0.08907	-4.42	0.29827	T	0.21188146941761274	0.28418	0.078	0.07224	B	.;.	.;.	0.406359	0.07776	4.461	0.85806136556211543	0.16124	0.02404	0.06808	N	AEFBI	0.048499	0.08283	N	-1.18915488753358	0.05163	0.2347304	-1.19036473884939	0.06070	0.2910689	1.31514151134682E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.3	1.02	0.19102	0.065000	0.14336	-1.625000	0.05036	-2.236000	0.00342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3191:0.1216:0.5593:0.0	6.963	0.23789	419	0.81524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1806.98	33	chr4	87662593	.	G	A	1806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.094;DP=894;ExcessHet=0.0000;FS=6.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.751;SOR=0.317	GT:AD:DP:GQ:PL	0/1:56,70:126:99:1821,0,1388	20	0	1	0
chr4	87662622	87662622	C	A	exonic	DMP1	.	nonsynonymous SNV	DMP1:NM_001079911:exon5:c.C796A:p.L266I	Hypophosphatemic rickets, AR, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	299863	not_provided|Hypophosphatemic_rickets,_autosomal_recessive,_1	MedGen:C3661900|MONDO:MONDO:0009430,MedGen:C4551495,OMIM:241520,Orphanet:289176	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.576	P	0.588	P	0.506	N	1.000	N	1.7	L	0.3	T	-0.891	T	0.185	T	0.065	0.522	6.830	3.21	0.584	-0.153	9.802	0.109	.	0.0032	0.00259585	0.0044	0.0005	0.0025	0	0.0241	0.0049	0.01	0	0.0042043	650	154602	rs141979823	0.0039	0.0039	0.0040	0.0038	0.0047	0.0038	0.0038	0.0041	0.0039	0.0005	0.0047	0.0061	0	0.0273	0.0012	0.0032	0.0037	2.319e-05	0.0052	0.0052	0.0040	0.0065	0.0098	0.0049	0.0048	0.0085	0.0080	0.0006	0	0.0098	0.0072	0	0.0319	0	0.0036	0.0071	0	0.019	0.50132	D	0.299	0.20422	T	0.576	0.38723	P	0.588	0.50402	P	0.505532	0.11901	N	0.737565	1	0.08975	N	3.285	0.90273	M	0.3	0.58755	T	-1.74	0.41239	N	0.132	0.21839	-0.8911	0.48837	T	0.185	0.53421	T	10	0.004522145	0.00093	T	.	.	.	0.109	0.30843	.	.	0.690806697088	0.68815	0.01764701605231649	0.01719	0.206409230335	0.23064	0.29542696476	0.09720	T	0.221601	0.58522	T	-0.552925	0.00280	T	-0.556627	0.16696	T	0.0511700083911253	0.05705	T	0.837416	0.50983	T	0.093170755	0.21876	0.08520188	0.19655	0.08358851	0.19308	0.08520188	0.19654	-4.185	0.26534	T	0.6558238984111158	0.72859	0.087	0.11269	B	.;.	.;.	0.968861	0.13460	9.967	0.97279916230936747	0.33177	0.04475	0.10087	N	AEFBI	0.060164	0.11414	N	-0.797716863531307	0.13370	0.6581273	-0.899042177149242	0.12116	0.6214026	3.625620895247E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.17	3.21	0.35933	0.322000	0.19323	2.750000	0.34528	-0.276000	0.06580	0.000000	0.06391	0.031000	0.21272	0.000000	0.00833	0.1258:0.7207:0.0:0.1535	9.802	0.39940	419	0.81524	.;.	.	.	.	.	rs141979823	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1367.98	33	chr4	87662622	.	C	A	1367.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.590e+00;DP=897;ExcessHet=0.0000;FS=3.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-2.220e-01;SOR=0.999	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1382,0,1919	20	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:76,75:151:99:742,0,1007	2	0	18	1
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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	6153.33	123	chr4	99347057	.	C	G	6153.33	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-8.170e-01;DP=2885;ExcessHet=20.9642;FS=293.864;InbreedingCoeff=-0.6783;MLEAC=17;MLEAF=0.425;MQ=59.97;MQRankSum=0.00;QD=3.24;ReadPosRankSum=-6.350e-01;SOR=13.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,31:113:99:0|1:99347057_C_G:350,0,2137:99347057	4	0	16	1
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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	529.85	45	chr4	99347058	.	C	G	529.85	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-4.228e+00;DP=1847;ExcessHet=0.1072;FS=137.080;InbreedingCoeff=-0.0651;MLEAC=2;MLEAF=0.050;MQ=59.97;MQRankSum=0.00;QD=2.46;ReadPosRankSum=-7.240e-01;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,31:113:99:0|1:99347057_C_G:350,0,2137:99347057	18	0	2	1
chr4	99574939	99574939	C	G	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_000253:exon2:c.C30G:p.C10W,	Abetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.78	L	1.72	T	-0.404	T	0.384	T	0.896	2.841	15.46	2.23	0.102	2.084	9.148	0.482	0.184976027276	.	.	8.238e-06	9.614e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs753522604	6.24e-05	0.0014	7.047e-05	5.427e-05	0.0001	5.163e-05	4.779e-05	5.688e-05	5.193e-05	0.0001	0	0	0	0	0	6.946e-05	6.693e-05	6.985e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.142496	0.999977	0.81001	D	2.455	0.71248	M	-0.22	0.66474	T	-3.08	0.91141	D	0.933	0.93841	-0.4035	0.71917	T	0.384	0.74010	T	10	0.8792747	0.87232	D	0.184976	0.85783	D	0.482	0.77206	0.698	0.83499	0.674874776785	0.67211	.	.	0.686564950529	0.60336	0.859764039516	0.91076	D	0.746103	0.93006	D	0.171064	0.71221	D	0.189473	0.82539	D	0.958944082260132	0.65404	D	0.730127	0.34567	T	0.81693834	0.85014	0.6753535	0.80938	0.81693834	0.85016	0.6753535	0.80939	-6.389	0.49424	T	.	.	0.710	0.77883	P	.;.;.	.;.;.	4.020674	0.59386	24.1	0.98889789545306861	0.47984	0.98218	0.80639	D	AEFGBHCI	0.914315	0.87751	D	0.239856040374876	0.53138	3.484213	0.193583207845389	0.49494	3.151944	0.999998888004483	0.74766	0.600919	0.35232	0	0.405561	0.06353	1	0.640751	0.46059	0	0.530356	0.10902	0	.	.	5.85	2.23	0.27189	2.277000	0.43076	1.393000	0.26132	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.6463:0.0:0.3537	9.148	0.36106	924	0.18029	.;.;.	.	.	.	.	.	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	0.04762	49.22	59	chr4	99574939	.	C	G	49.22	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.695e+00;DP=1354;ExcessHet=0.1072;FS=411.604;InbreedingCoeff=-0.0542;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=1.52;SOR=8.862	GT:AD:DP:GQ:PL	0/1:73,33:106:46:46,0,1441	19	0	2	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	-0.26	T	0.412	D	0.664	D	0.981	4.876	27.9	5.42	2.704	7.410	19.578	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1269.88	119	chr4	106925843	.	C	T	1269.88	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.410e+00;DP=2366;ExcessHet=2.5830;FS=168.069;InbreedingCoeff=-0.2387;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=0.981;SOR=11.937	GT:AD:DP:GQ:PL	0/1:97,33:130:99:103,0,2029	12	0	7	2
chr4	110542868	110542868	C	T	exonic	ENPEP	.	nonsynonymous SNV	ENPEP:NM_001379611:exon12:c.C1925T:p.A642V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.022	B	0.014	B	0.205	N	1.000	N	0.995	L	3.24	T	-0.970	T	0.013	T	0.099	1.047	9.274	-5.51	-0.881	-0.442	0.690	0.043	0.00486380669583	.	.	6.619e-05	0	8.732e-05	0	0	3.004e-05	0	0.0003	5.17e-05	8	154602	rs778486245	2.396e-05	2.394e-05	1.907e-05	2.89e-05	0.0003	1.74e-05	1.54e-05	0.0002	0.0002	0	6.718e-05	0	0	1.873e-05	0	7.198e-06	0	0.0003	6.575e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.282	0.15406	T	0.279	0.21745	T	0.022	0.18677	B	0.014	0.16862	B	0.205433	0.03349	N	1.460060	1	0.08975	N	0.955	0.23872	L	3.24	0.06845	T	-0.66	0.19085	N	0.178	0.19190	-0.9702	0.37157	T	0.013	0.05177	T	10	0.08621544	0.14634	T	0.004864	0.12192	T	0.043	0.11576	0.544	0.65731	0.0551355673512	0.04727	0.3043719481494112	0.30350	0.113425222859	0.12803	0.27333983779	0.06580	T	0.071236	0.34157	T	-0.581699	0.00188	T	-0.777155	0.02540	T	0.0229719098896361	0.01020	T	0.154585	0.01346	T	0.09887266	0.23325	0.05674032	0.10190	0.09887266	0.23325	0.05674032	0.10189	-5.564	0.42462	T	.	.	0.082	0.08657	B	.	.	-0.596327	0.01582	0.106	0.81848729841552226	0.13891	0.02065	0.06157	N	AEFI	0.069521	0.13765	N	-1.57618066651451	0.01388	0.06049268	-1.63523440634907	0.01454	0.06577495	0.999789195504703	0.43007	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	5.52	-5.51	0.02366	-0.307000	0.08206	-1.881000	0.04560	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2373:0.2006:0.3046:0.2575	0.690	0.00833	840	0.37365	ERAP1-like C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1304.98	42	chr4	110542868	.	C	T	1304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=823;ExcessHet=0.0000;FS=5.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-1.631e+00;SOR=1.197	GT:AD:DP:GQ:PL	0/1:76,50:126:99:1319,0,1974	20	0	1	0
chr4	119271640	119271640	G	A	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1627A:p.D543N	.	.	430	1089	3	0	0	3	0.00137552	.	.	2269080	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.87	T	-0.853	T	0.180	T	0.159	5.382	34	5.7	2.684	9.184	18.012	0.289	0.0185352585575	.	.	8.381e-06	0	0	0	0	0	0	6.098e-05	6.5e-06	1	154602	rs748278992	9.579e-06	9.577e-06	8.169e-06	1.1e-05	0.0002	5.56e-06	4.35e-06	3.85e-06	2.76e-06	0	0	0	0	0	0.0002	8.094e-06	3.312e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999649	0.48019	D	3.175	0.88760	M	1.87	0.24085	T	-3.77	0.71397	D	0.843	0.97426	-0.8533	0.51739	T	0.180	0.52629	T	10	0.8430111	0.83460	D	0.018535	0.40637	T	0.289	0.60808	0.404	0.43573	0.913352281024	0.91248	0.4721300014297088	0.47131	0.604286070432	0.55376	0.60260784626	0.53273	T	0.173703	0.52267	T	-0.141768	0.29610	T	-0.340786	0.40255	T	0.993717789649963	0.84629	D	0.939306	0.77145	D	0.759889	0.81446	0.6659668	0.80413	0.759889	0.81448	0.6659668	0.80414	-7.192	0.55424	T	0.9669684756440228	0.98953	0.761	0.75547	P	.;.	.;.	4.987418	0.82664	27.8	0.9993191752488142	0.99439	0.99613	0.97991	D	AEFDGBI	0.899098	0.84310	D	0.914353333171289	0.92445	11.42724	0.90085709822688	0.95610	13.78865	0.999999999999885	0.74766	0.730579	0.87903	0	0.588015	0.36545	0	0.608884	0.39905	0	0.648885	0.59868	0	.	.	5.7	5.7	0.88690	9.310000	0.95328	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.012	0.89148	546	0.72524	.;.	.	.	.	.	.	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	0.02381	1457.98	35	chr4	119271640	.	G	A	1457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.498e+00;DP=840;ExcessHet=0.0000;FS=0.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=1.02;SOR=0.602	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1472,0,1676	20	0	1	0
chr4	122336911	122336911	A	G	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_015312:exon69:c.A12041G:p.H4014R	.	.	444	1075	3	0	0	3	0.0013934	.	.	3294725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	0.013	B	0.025	B	0.010	N	1.000	D	0.895	L	2.59	T	-0.860	T	0.191	T	0.231	1.853	12.15	5.39	2.045	7.232	15.398	0.050	0.0051969754824	.	.	8.328e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs747274944	4.807e-06	4.788e-06	2.732e-06	6.905e-06	0.0007	2e-06	1.29e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	4.982e-05	0	6.572e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.352	0.12345	T	0.054	0.47097	T	0.002	0.09854	B	0.007	0.12992	B	0.010222	0.30012	N	0.348186	0.993635	0.42003	D	0.345	0.11182	N	2.59	0.29085	T	-1.18	0.37375	N	0.348	0.38950	-0.8597	0.51284	T	0.191	0.54359	T	10	0.22510254	0.39332	T	0.005197	0.13248	T	0.050	0.13987	0.215	0.13498	0.488266720666	0.48458	0.5063155891993556	0.50553	0.799598274206	0.66178	0.528191030025	0.42779	T	0.025389	0.20950	T	-0.175708	0.24377	T	-0.490169	0.23372	T	0.214378878474236	0.21179	T	0.913309	0.69449	D	0.13907705	0.32140	0.12816769	0.30839	0.13907705	0.32140	0.12816769	0.30838	-3.803	0.20849	T	.	.	0.133	0.28750	B	.;.;.	.;.;.	2.761562	0.36222	20.2	0.95366332178034185	0.26772	0.97472	0.74969	D	AEBI	0.878207	0.80332	D	0.292646536960567	0.55775	3.741637	0.403235880106808	0.61767	4.38144	0.999842087040871	0.43971	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.39	5.39	0.77615	7.221000	0.77505	11.264000	0.91177	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.398	0.74537	883	0.28872	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1033.98	34	chr4	122336911	.	A	G	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=783;ExcessHet=0.0000;FS=0.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-5.860e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:57,45:102:99:1048,0,1421	20	0	1	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	729.72	57	chr4	134199956	.	C	T	729.72	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.043e+00;DP=1459;ExcessHet=4.7172;FS=120.348;InbreedingCoeff=-0.3900;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=-2.920e-01;SOR=8.830	GT:AD:DP:GQ:PL	0/1:42,15:57:66:66,0,754	7	0	9	5
chr4	139719756	139719756	G	A	exonic	MAML3	.	nonsynonymous SNV	MAML3:NM_018717:exon5:c.C2984T:p.P995L,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.943	P	0.267	B	0.000	D	1.000	D	1.495	L	1.88	T	-1.069	T	0.044	T	0.797	0.664	7.560	4.0	1.139	6.082	14.890	0.233	0.0140511211993	.	0.00119808	0.0002	0	0.0002	0.0011	0	0.0001	0	0.0004	0.000207	32	154602	rs185593153	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0008	0.0007	0	6.71e-05	7.653e-05	0.0010	0	0.0005	8.994e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0015	9.141e-05	7.697e-05	0.0008	0.0006	0	0	6.533e-05	0	0.0015	0	0	7.35e-05	0	0.0014	0.319	0.13610	T	0.057	0.46406	T	.	.	.	.	.	.	0.000017	0.62929	D	0.067334	1	0.81001	D	.	.	.	1.88	0.23884	T	-1.83	0.42957	N	0.581	0.60241	-1.0689	0.09657	T	0.044	0.19070	T	10	0.02591914	0.00772	T	0.014051	0.33902	T	0.233	0.53499	.	.	0.354822389136	0.35094	0.4773321474085681	0.47653	0.595511303939	0.54823	0.720179080963	0.70072	T	0.358814	0.72531	T	-0.239519	0.15411	T	-0.174604	0.57021	T	0.0632406426787925	0.07669	T	0.90041	0.65400	D	0.15150985	0.34439	0.160812	0.37438	0.15150985	0.34439	0.160812	0.37437	-6.71	0.51886	T	.	.	0.226	0.45835	B	.	.	3.884962	0.56491	23.7	0.88157637700104319	0.17760	0.91275	0.53206	D	AEFDGBHCI	0.692993	0.65247	D	0.099823655313912	0.46455	2.885516	0.165676764105981	0.47978	3.020167	0.999999999208606	0.74766	0.562547	0.31514	0	0.547309	0.14657	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	4.86	4.0	0.45673	6.451000	0.73398	7.470000	0.59142	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8559:0.1441	14.890	0.70247	947	0.11584	.	.	.	.	.	.	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	0.02381	2146.98	34	chr4	139719756	.	G	A	2146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=897;ExcessHet=0.0000;FS=5.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.13;SOR=0.403	GT:AD:DP:GQ:PL	0/1:84,79:163:99:2161,0,2052	20	0	1	0
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,66,0:66:99:2934,199,0,2934,199,2934	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,66,0:66:99:2934,199,0,2934,199,2934	0	20	0	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,39:101:99:0|1:140563137_C_G:456,0,1559:140563137	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,39:101:99:0|1:140563137_C_G:456,0,1559:140563137	1	0	20	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,132,0:132:99:.:.:4324,396,0,4324,396,4324	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:2,38,0,0,0:40:80:1310,80,0,1359,165,1709,1359,165,1709,1709,1359,165,1709,1709,1709	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:2,38,0,0,0:40:80:1310,80,0,1359,165,1709,1359,165,1709,1709,1359,165,1709,1709,1709	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:2,38,0,0,0:40:80:1310,80,0,1359,165,1709,1359,165,1709,1709,1359,165,1709,1709,1709	0	10	4	0
chr4	147683948	147683948	C	A	exonic	PRMT9	.	nonsynonymous SNV	PRMT9:NM_138364:exon1:c.G40T:p.G14C,	.	.	1	1505	15	1	0	17	0.00561612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.832	P	0.286	B	0.884	N	0.000	P	0	N	1.84	T	-1.034	T	0.001	T	0.324	2.121	13.05	-0.475	-0.346	0.306	6.455	0.059	.	0.0002	0.0277556	0.0123	0	8.908e-05	0.1584	0.0002	0.0005	0.0048	0.0021	0.0108084	1671	154602	rs78226695	0.0042	0.0042	0.0042	0.0041	0.1239	0.0041	0.0041	0.1210	0.1198	8.963e-05	0.0002	0.0036	0.1239	0.0003	0.0007	0.0002	0.0096	0.0032	0.0053	0.0053	0.0046	0.0060	0.1379	0.0050	0.0049	0.1295	0.1261	9.62e-05	0	0.0012	0.0026	0.1379	0.0002	0	0.0003	0.0033	0.0064	0.032	0.44694	D	0.094	0.39645	T	0.832	0.46138	P	0.286	0.40541	B	0.884321	0.08733	N	0.949451	0.994962	0.58761	P	1.1	0.28011	L	1.84	0.24656	T	-0.9	0.24244	N	0.124	0.11626	-1.0338	0.19236	T	0.001	0.00188	T	9	0.0016796291	0.00021	T	.	.	.	0.059	0.16972	.	.	.	.	0.25848887188869984	0.25762	0.306489444402	0.32949	0.470564365387	0.34758	T	0.025072	0.18822	T	-0.590469	0.00167	T	-0.478666	0.24588	T	0.0237076036852353	0.01108	T	0.508249	0.16142	T	0.14936388	0.34055	0.10195227	0.24422	0.14936388	0.34055	0.10195227	0.24422	-6.921	0.53455	T	.	.	0.136	0.29670	B	.	.	2.231159	0.28483	17.81	0.96751402512545792	0.30961	0.17794	0.19990	N	AEFDGBHCI	0.133641	0.25337	N	-0.659841267066006	0.17174	0.8815018	-0.748459377526711	0.15760	0.8304671	0.999999999801245	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.74	-0.475	0.11501	0.401000	0.20673	-0.258000	0.10450	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.658000	0.32913	0.0:0.5878:0.1343:0.2779	6.455	0.21128	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	392.98	33	chr4	147683948	.	C	A	392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=715;ExcessHet=0.0000;FS=1.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-6.170e-01;SOR=0.386	GT:AD:DP:GQ:PL	0/1:22,14:36:99:407,0,595	20	0	1	0
chr4	154545846	154545846	G	A	exonic	PLRG1	.	nonsynonymous SNV	PLRG1:NM_001201564:exon6:c.C455T:p.A152V	.	.	432	1082	7	1	0	9	0.00414174	.	.	2761857	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.01	B	0.001	B	0.152	N	1.000	N	0.55	N	0.12	T	-1.051	T	0.088	T	0.209	2.332	13.75	-3.73	-0.505	0.103	8.843	0.048	0.0314313700788	.	0.000199681	0.0001	0	0	0	0	1.522e-05	0.0011	0.0006	9.7e-05	15	154602	rs547768914	8.824e-05	9.1e-05	4.944e-05	0.0001	0.0012	7.546e-05	7.09e-05	0.0009	0.0008	3.017e-05	4.52e-05	0	0	0	0.0012	2.176e-05	6.67e-05	0.0010	5.253e-05	5.249e-05	3.855e-05	6.714e-05	0.0006	2.556e-05	1.829e-05	0.0002	8.996e-05	0	0	0	0	0	9.418e-05	0	5.881e-05	0	0.0006	0.138	0.25873	T	0.124	0.35455	T	0.006	0.15535	B	0.001	0.04355	B	0.151683	0.17947	N	0.616647	1	0.08975	N	0.55	0.14455	N	0.11	0.61208	T	-0.46	0.23372	N	0.097	0.07811	-1.0512	0.14064	T	0.088	0.34050	T	10	0.022129625	0.00545	T	0.031431	0.53513	D	0.048	0.13305	0.205	0.12076	0.430026717358	0.42623	0.16524014356799185	0.16444	0.259652544966	0.28522	0.281900525093	0.07759	T	0.208412	0.56833	T	-0.484524	0.00697	T	-0.527953	0.19491	T	0.0185975898749166	0.00574	T	0.622538	0.24427	T	0.01537073	0.00135	0.035014383	0.02673	0.01537073	0.00135	0.035014383	0.02672	-3.77	0.20357	T	.	.	0.076	0.08609	B	.;.;.	.;.;.	1.501485	0.19302	14.19	0.92421041423423622	0.21838	0.12564	0.17345	N	AEFBHCI	0.256450	0.37537	N	-1.25347909439514	0.04254	0.1916351	-1.29340018613211	0.04519	0.2133408	0.994346798759741	0.33595	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	-3.73	0.04112	0.017000	0.13294	-0.054000	0.12508	-0.106000	0.15538	0.030000	0.20431	0.000000	0.08366	0.106000	0.18562	0.3609:0.4764:0.1627:0.0	8.843	0.34312	878	0.29785	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	673.98	36	chr4	154545846	.	G	A	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.153e+00;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=1.30;SOR=0.646	GT:AD:DP:GQ:PL	0/1:39,34:73:99:688,0,871	20	0	1	0
chr4	158170954	158170954	C	T	exonic	GASK1B	.	nonsynonymous SNV	GASK1B:NM_001031700:exon2:c.G422A:p.G141E	.	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.956	P	0.564	P	0.914	N	1.000	N	1.245	L	1.64	T	-0.983	T	0.060	T	0.109	0.399	6.165	-0.115	-0.261	1.400	10.999	0.079	.	0.0072	0.00379393	0.0069	0.0015	0.0041	0	0.0054	0.0105	0.0088	0.0021	0.0068175	1054	154602	rs147697286	0.0084	0.0084	0.0085	0.0084	0.0099	0.0083	0.0083	0.0097	0.0097	0.0013	0.0035	0.0031	0	0.0077	0.0064	0.0099	0.0077	0.0020	0.0065	0.0065	0.0070	0.0060	0.0113	0.0062	0.0060	0.0106	0.0104	0.0016	0.0033	0.0033	0.0052	0	0.0053	0.0034	0.0113	0.0076	0.0015	0.063	0.37118	T	0.842	0.22223	T	.	.	.	.	.	.	0.914439	0.07436	N	1.040310	1	0.08975	N	.	.	.	1.64	0.27822	T	-1.34	0.33401	N	0.168	0.25377	-0.9831	0.34281	T	0.060	0.24981	T	10	0.0036983788	0.00068	T	.	.	.	0.079	0.23065	.	.	0.245101548738	0.24120	0.415537053956538	0.41469	0.726907967018	0.62539	0.404081493616	0.25637	T	.	.	.	-0.621282	0.00108	T	-0.653529	0.08709	T	0.0180847529048615	0.00531	T	0.764624	0.39166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.15698	B	.;.;.;.	.;.;.;.	0.723194	0.10925	7.592	0.82697138627709676	0.14327	0.40026	0.26345	N	AEFDBCI	0.314170	0.41911	N	-0.727053110721069	0.15264	0.7677369	-0.834160244315512	0.13669	0.7103327	0.999999903827991	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.615948	0.41167	0	0.56214	0.19341	0	.	.	4.96	-0.115	0.12899	0.836000	0.27198	0.000000	0.13247	0.599000	0.40250	0.000000	0.06391	0.098000	0.22634	0.011000	0.09372	0.0:0.36:0.5634:0.0766	10.999	0.46810	640	0.64132	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2393.98	37	chr4	158170954	.	C	T	2393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-01;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.855;SOR=0.701	GT:AD:DP:GQ:PL	0/1:110,102:212:99:2408,0,2854	20	0	1	0
chr4	174495613	174495613	C	T	exonic	HPGD	.	nonsynonymous SNV	HPGD:NM_001256306:exon3:c.G229A:p.V77I	Cranioosteoarthropathy, Autosomal recessive;Digital clubbing, isolated congenital, Autosomal recessive;Hypertrophic osteoarthropathy, primary, autosomal recessive 1, Autosomal recessive	.	2	1517	3	0	0	3	0.000987817	.	.	273624	Hypertrophic_osteoarthropathy,_primary,_autosomal_recessive,_1|Isolated_congenital_digital_clubbing|not_provided	MONDO:MONDO:0024546,MedGen:C4551679,OMIM:259100,Orphanet:1525,Orphanet:2796|MONDO:MONDO:0007343,MedGen:C0345408,OMIM:119900,Orphanet:217059|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.01	B	0.004	B	0.017	N	1.000	D	0.075	N	-1.33	T	-0.846	T	0.259	T	0.287	0.652	7.496	3.08	0.772	1.310	8.829	0.111	0.0900749673212	0.0005	0.000399361	0.0004	0.0002	0.0010	0.0005	0	0.0003	0.0011	0.0002	0.0003234	50	154602	rs139715202	0.0003	0.0003	0.0003	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	5.983e-05	0.0009	7.656e-05	0.0013	1.874e-05	0.0009	0.0003	0.0004	0.0002	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	9.624e-05	0	0.0002	0	0.0008	9.429e-05	0	0.0004	0.0009	0	0.521	0.09346	T	0.481	0.15157	T	0.001	0.07471	B	0.001	0.04355	B	0.016697	0.27912	N	0.388831	1	0.81001	D	-0.35	0.03145	N	-1.6	0.82165	D	-0.1	0.08495	N	0.177	0.19055	-0.8456	0.52270	T	0.259	0.62944	T	10	0.02402851	0.00647	T	0.090075	0.75450	D	0.111	0.31313	.	.	0.548145191872	0.54469	0.6093699688386278	0.60868	0.0241015122764	0.02450	0.351416379213	0.18130	T	0.303	0.67547	T	-0.335822	0.05682	T	-0.314353	0.43190	T	0.01064647176652	0.00149	T	0.738826	0.55431	T	0.1840397	0.39701	0.07600441	0.16789	0.1840397	0.39700	0.07600441	0.16788	-4.304	0.28232	T	.	.	0.14	0.30686	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.797592	0.22847	15.79	0.86989229354742137	0.16911	0.72269	0.35379	D	AEFI	0.249437	0.36967	N	-0.586590569438627	0.19350	1.012079	-0.420673637113784	0.24390	1.335382	0.989887810267839	0.31965	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.77	3.08	0.34576	1.074000	0.30315	1.446000	0.26567	0.547000	0.25779	0.908000	0.31627	0.319000	0.24313	0.042000	0.14466	0.1212:0.7465:0.0:0.1323	8.829	0.34231	915	0.20917	Short-chain dehydrogenase/reductase, conserved site;.;.;.;.;Short-chain dehydrogenase/reductase, conserved site;Short-chain dehydrogenase/reductase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	543.98	33	chr4	174495613	.	C	T	543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.85;DP=732;ExcessHet=0.0000;FS=2.477;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=-5.390e-01;SOR=1.232	GT:AD:DP:GQ:PL	0/1:36,20:56:99:558,0,861	20	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.018	B	0.016	B	0.000	D	1.000	D	1.085	L	.	.	-0.916	T	0.201	T	0.066	2.388	13.94	5.98	2.843	4.695	20.437	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1206.97	34	chr4	176711629	.	G	C	1206.97	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-5.125e+00;DP=1382;ExcessHet=4.7172;FS=102.363;InbreedingCoeff=-0.2644;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=0.755;SOR=10.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,13:68:34:0|1:176711629_G_C:34,0,2094:176711629	12	0	9	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1678376	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.52	L	.	.	-0.325	T	0.394	T	0.926	4.430	23.6	5.98	2.843	9.466	20.437	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	1555.83	65	chr4	176711631	.	G	C	1555.83	.	AC=11;AF=0.324;AN=34;BaseQRankSum=-1.679e+00;DP=1803;ExcessHet=7.7275;FS=101.631;InbreedingCoeff=-0.4496;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=1.71;ReadPosRankSum=0.695;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,13:68:34:0|1:176711629_G_C:34,0,2094:176711629	6	0	11	4
chr4	183666271	183666271	G	C	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon3:c.G219C:p.E73D	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	.	429	1073	20	0	0	20	0.00923361	.	.	251413	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18|not_specified|not_provided	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.884	P	0.361	B	0.000	D	1.000	D	0.785	N	.	.	-0.880	T	0.093	T	0.733	2.957	15.86	-8.23	-1.570	-0.198	20.646	0.438	.	0.0006	0.00519169	0.0043	0.0004	0.0004	0	0	0.0011	0.0078	0.0268	0.0037192	575	154602	rs138760818	0.0021	0.0021	0.0014	0.0028	0.0237	0.0020	0.0020	0.0228	0.0225	0.0002	0.0004	0.0094	7.562e-05	0	0.0059	0.0005	0.0027	0.0237	0.0012	0.0012	0.0009	0.0016	0.0213	0.0011	0.0010	0.0180	0.0167	9.623e-05	0	0.0005	0.0084	0.0002	0	0.0034	0.0006	0.0009	0.0213	0.332	0.13045	T	0.313	0.19782	T	0.816	0.48618	P	0.268	0.43233	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.72	0.18721	N	.	.	.	-1.65	0.39503	N	0.83	0.82559	-0.8796	0.49793	T	0.093	0.35309	T	9	0.008832902	0.00200	T	.	.	.	0.438	0.74235	0.507	0.60232	0.297718772494	0.29385	0.6762822272158442	0.67567	0.242449313092	0.26752	0.895344734192	0.95908	D	0.056148	0.30204	T	-0.266217	0.12181	T	-0.136255	0.60441	T	0.0358278396197127	0.02951	T	0.936706	0.76258	D	0.13100906	0.30552	0.16336662	0.37900	0.15270379	0.34650	0.21760593	0.46431	-4.695	0.33367	T	0.271994395201674	0.36576	0.534	0.66116	A	.;.	.;.	0.259165	0.06380	2.843	0.97681234374604287	0.35317	0.66952	0.33258	D	AEFBI	0.191362	0.31856	N	-0.860169371462993	0.11800	0.5714975	-0.946028042817449	0.11016	0.5585789	0.999723583915953	0.42220	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	-8.23	0.00907	-0.179000	0.09761	-1.286000	0.05813	-0.281000	0.06419	0.457000	0.26620	0.000000	0.08366	0.992000	0.67800	0.2921:0.0:0.7079:0.0	20.646	0.99595	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	1660.11	39	chr4	183666271	.	G	C	1660.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.959;DP=798;ExcessHet=0.1072;FS=2.039;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.26;SOR=0.545	GT:AD:DP:GQ:PL	0/1:37,36:73:99:851,0,857	19	0	2	0
chr5	427907	427907	C	T	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon8:c.C809T:p.A270V	.	.	420	1090	10	2	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.001	B	0.003	B	0.005	N	1.000	N	-0.345	N	1.95	T	-1.002	T	0.027	T	0.201	-1.104	0.140	-0.028	-0.144	0.208	8.451	0.040	0.00240243416526	0.0003	0.00159744	0.0011	0.0001	0.0006	0.0020	0	0.0012	0.0045	0.0014	0.0009961	154	154602	rs183151904	0.0007	0.0007	0.0007	0.0008	0.0212	0.0007	0.0007	0.0181	0.0170	0.0006	0.0011	0.0041	0.0034	0	0.0212	0.0004	0.0017	0.0012	0.0007	0.0007	0.0007	0.0008	0.0024	0.0006	0.0006	0.0017	0.0015	7.214e-05	0	0.0024	0.0043	0.0015	0	0.0136	0.0005	0.0033	0.0006	0.781	0.03344	T	0.611	0.08134	T	0.001	0.07471	B	0.001	0.08700	B	0.004711	0.33466	N	0.315721	0.958544	0.27007	N	-0.65	0.02095	N	1.94	0.28189	T	-1.11	0.28703	N	0.272	0.34336	-1.0025	0.29197	T	0.027	0.11441	T	10	0.006665617	0.00151	T	0.002402	0.04701	T	0.040	0.10527	.	.	0.136095386433	0.13204	0.5347177831675158	0.56247	0.0815505204476	0.09179	0.417280197144	0.27462	T	0.203534	0.56204	T	-0.566491	0.00232	T	-0.62188	0.11039	T	0.00426728844502535	0.00045	T	0.686431	0.33152	T	0.1173866	0.27675	0.05553307	0.09758	0.1173866	0.27674	0.05553307	0.09757	-4.797	0.34556	T	.	.	0.06	0.03162	B	.;.;.;.	.;.;.;.	-0.273862	0.02733	0.363	0.35238395493284119	0.02200	0.19260	0.20591	N	AEFDGBCI	0.065166	0.12696	N	-1.24601403725839	0.04352	0.1962666	-1.1875601520838	0.06117	0.2934515	0.998212962903759	0.36589	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	4.88	-0.0277	0.13251	0.422000	0.21016	-0.832000	0.07252	-1.049000	0.01645	0.964000	0.33853	0.000000	0.08366	0.000000	0.00833	0.0:0.4625:0.0:0.5375	8.451	0.32030	856	0.34373	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1108.98	35	chr5	427907	.	C	T	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.401;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.246;SOR=0.743	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1123,0,1100	20	0	1	0
chr5	484656	484656	C	T	exonic	SLC9A3	.	nonsynonymous SNV	SLC9A3:NM_001284351:exon5:c.G796A:p.V266M	Diarrhea 8, secretory sodium, congenital, Autosomal recessive	YES	421	1078	21	2	0	25	0.0114626	.	.	1072823	SLC9A3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.942	P	0.826	P	0.217	N	1.000	N	2.065	M	2.22	T	-1.078	T	0.071	T	0.2	2.093	12.96	2.31	0.871	-0.087	4.255	0.053	0.0213898244609	0.0006	0.000399361	0.0012	0.0002	0.0011	0	0	0.0014	0.0034	0.0019	0.0010155	157	154602	rs140474355	0.0009	0.0009	0.0008	0.0009	0.0085	0.0008	0.0008	0.0066	0.0059	5.974e-05	0.0011	0.0055	2.519e-05	3.817e-05	0.0085	0.0007	0.0015	0.0019	0.0008	0.0008	0.0007	0.0008	0.0016	0.0006	0.0006	0.0011	0.0009	4.809e-05	0	0.0016	0.0063	0	0	0.0068	0.0009	0	0.0012	0.002	0.72154	D	0.008	0.67890	D	0.942	0.52977	P	0.826	0.59373	P	0.216980	0.16229	N	0.617305	1	0.08975	N	2.085	0.57729	M	2.22	0.18248	T	-1.53	0.37759	N	0.328	0.37301	-1.0776	0.07821	T	0.071	0.29066	T	10	0.01545018	0.00324	T	0.02139	0.44151	T	0.053	0.14996	.	.	0.292942362817	0.28906	0.4457684819745284	0.44494	1.85953752139	0.92388	0.435315996408	0.29936	T	0.135649	0.46757	T	-0.553641	0.00277	T	-0.574828	0.15009	T	0.0364475923392912	0.03058	T	0.865513	0.57764	D	0.15742323	0.35472	0.1525973	0.35895	0.15742323	0.35471	0.1525973	0.35894	-7.097	0.55445	T	.	.	0.121	0.25166	B	.;.;.	.;.;.	1.897887	0.24102	16.27	0.99775695929055008	0.86346	0.02601	0.07169	N	AEFDGBI	0.098318	0.19814	N	-0.162198626822734	0.34716	1.985005	-0.314998690435138	0.27615	1.533542	0.108151430030521	0.16575	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.45	2.31	0.27816	-0.588000	0.05867	-0.950000	0.06817	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.725000	0.34934	0.0:0.5039:0.1909:0.3051	4.255	0.10164	895	0.25842	Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1325.98	39	chr5	484656	.	C	T	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.179;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-5.940e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1340,0,1341	20	0	1	0
chr5	1083865	1083865	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon8:c.G1009A:p.A337T,	.	.	424	1084	14	0	0	14	0.00641613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.001	B	0.989	N	1.000	N	1.245	L	-0.02	T	-1.003	T	0.138	T	0.037	0.198	5.069	1.63	0.657	-0.070	3.329	0.040	0.0120447086386	0.0004	0.000599042	0.0005	0.0003	0.0002	0	0	0.0005	0	0.0015	0.0004075	63	154602	rs140054338	0.0004	0.0004	0.0003	0.0004	0.0028	0.0003	0.0003	0.0018	0.0014	0.0001	0.0005	0.0044	2.526e-05	0	0.0028	0.0002	0.0009	0.0014	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0008	0.0058	0	0	0.0034	0.0002	0.0019	0.0006	0.575	0.06086	T	0.572	0.08746	T	0.003	0.11197	B	0.001	0.04355	B	0.989428	0.08040	N	0.995188	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-0.37	0.13226	N	0.099	0.08088	-1.0027	0.29139	T	0.138	0.45508	T	10	0.009790659	0.00220	T	0.012045	0.30251	T	0.040	0.10527	.	.	0.381916209588	0.37799	0.7172251238862917	0.71665	0.299493112566	0.32315	0.50070476532	0.38926	T	0.104547	0.41421	T	-0.600419	0.00145	T	-0.680788	0.06936	T	0.00439147579536579	0.00047	T	0.0336966	0.00222	T	0.02900809	0.02327	0.040754575	0.04476	0.02900809	0.02326	0.040754575	0.04476	-4.967	0.36479	T	.	.	0.074	0.05274	B	.	.	0.608214	0.09765	6.533	0.81511094854553279	0.13721	0.02140	0.06305	N	AEFGBI	0.041504	0.06318	N	-1.15469746675839	0.05703	0.2606895	-1.1844235802697	0.06169	0.2961284	0.902212495718761	0.26121	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.67	1.63	0.22882	-0.121000	0.10618	-13.249000	0.00470	-0.970000	0.01946	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.459:0.2063:0.3346	3.329	0.06661	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2295.11	33	chr5	1083865	.	C	T	2295.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=875;ExcessHet=0.1072;FS=1.104;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-2.350e-01;SOR=0.612	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1157,0,1054	19	0	2	0
chr5	17275352	17275352	G	A	exonic	BASP1	.	nonsynonymous SNV	BASP1:NM_001271606:exon2:c.G136A:p.A46T	.	.	399	1121	2	0	0	2	0.000891266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.031	B	0.039	B	0.089	N	1.000	N	1.175	L	0.93	T	-1.073	T	0.019	T	0.094	1.294	10.23	2.7	0.871	2.069	7.430	0.029	.	0.0094	0.0123802	0.0048	0.0441	0.0029	0.0024	0	0.0017	0.0018	0.0003	0.003247	502	154602	rs149655189	0.0013	0.0014	0.0014	0.0012	0.0299	0.0013	0.0013	0.0283	0.0277	0.0299	0.0024	0.0120	0.0008	0	0.0022	0.0003	0.0032	0.0003	0.0095	0.0095	0.0100	0.0091	0.0313	0.0091	0.0090	0.0298	0.0293	0.0313	0	0.0038	0.0121	0.0029	0	0.0034	0.0003	0.0095	0.0002	0.105	0.29823	T	0.241	0.24334	T	0.031	0.20130	B	0.039	0.23607	B	0.089467	0.20426	N	0.400890	1	0.08975	N	1.2	0.30300	L	0.93	0.44065	T	-2.59	0.55821	D	0.099	0.08227	-1.0733	0.08702	T	0.019	0.08173	T	10	0.002618432	0.00040	T	.	.	.	0.029	0.06676	.	.	0.0934897674506	0.08844	0.044748040058176564	0.04418	0.423247183127	0.42795	0.471216410398	0.34848	T	0.222334	0.58615	T	-0.599275	0.00147	T	-0.609218	0.12048	T	0.0114163136919421	0.00170	T	0.494051	0.15283	T	0.09669692	0.22779	0.12291796	0.29645	0.09669692	0.22779	0.12291796	0.29644	-5.584	0.42646	T	.	.	0.072	0.04356	B	.;.	.;.	2.315801	0.29649	18.19	0.97834758293880641	0.36285	0.19337	0.20621	N	AEFDGBHCI	0.124533	0.24064	N	-0.730770831120503	0.15161	0.7616325	-0.720347453278196	0.16454	0.8705294	0.999999950461352	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.5	2.7	0.31007	2.669000	0.46490	4.192000	0.42410	0.586000	0.30580	0.310000	0.25414	0.986000	0.30841	0.856000	0.40543	0.2758:0.0:0.7242:0.0	7.430	0.26292	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	898.98	35	chr5	17275352	.	G	A	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.761;DP=746;ExcessHet=0.0000;FS=2.274;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=0.679;SOR=0.397	GT:AD:DP:GQ:PL	0/1:24,34:58:99:913,0,525	20	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.073	B	0.025	B	0.000	D	1.000	D	0.695	N	-3.35	D	0.043	D	0.661	D	0.555	3.882	19.73	5.58	2.641	9.439	19.567	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	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	0.3333	663.75	81	chr5	36976312	.	G	C	663.75	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.011e+00;DP=2556;ExcessHet=3.5521;FS=235.068;InbreedingCoeff=-0.4165;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.981;SOR=11.906	GT:AD:DP:GQ:PL	0/1:99,26:129:7:7,0,2164	4	0	8	9
chr5	56111538	56111538	C	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon10:c.G1210A:p.V404I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.001	B	0.002	B	0.188	N	1.000	N	0.345	N	1.43	T	-1.026	T	0.046	T	0.086	1.049	9.284	4.7	1.448	0.488	2.020	0.073	0.00303350215862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190937549	3.421e-06	3.42e-06	5.447e-06	1.375e-06	2.32e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	0	2.32e-05	6.571e-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	0.274	0.16412	T	0.544	0.09655	T	.	.	.	.	.	.	0.188279	0.16916	N	0.566077	1	0.08975	N	1.115	0.28702	L	1.35	0.38883	T	0.1	0.07155	N	0.039	0.07125	-1.0263	0.21658	T	0.046	0.19879	T	10	0.042841405	0.03073	T	0.003034	0.06517	T	0.073	0.21317	.	.	0.222439326576	0.21863	0.10186180805474966	0.10117	0.164863425096	0.18598	0.388698607683	0.23486	T	0.007204	0.07680	T	-0.303043	0.08375	T	-0.657591	0.08430	T	0.0518343225121498	0.05818	T	0.675332	0.28377	T	0.042524453	0.06464	0.04210137	0.04939	0.042524453	0.06463	0.04210137	0.04938	-4.028	0.24221	T	.	.	0.077	0.19839	B	.;.;.	.;.;.	1.789613	0.22753	15.75	0.94309302959826447	0.24626	0.06487	0.12497	N	AEFDBHCI	0.037775	0.05245	N	-0.574236415578875	0.19730	1.034899	-0.401907436333683	0.24941	1.368683	0.999988799572175	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.59	4.7	0.58776	0.356000	0.19918	2.656000	0.33848	0.597000	0.34315	0.014000	0.18986	1.000000	0.68203	0.999000	0.91618	0.1501:0.5:0.1452:0.2047	2.020	0.03293	313	0.87327	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1660.98	97	chr5	56111538	.	C	T	1660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.940e-01;DP=1717;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=0.092;SOR=0.701	GT:AD:DP:GQ:PL	0/1:47,62:109:99:1675,0,1275	20	0	1	0
chr5	61544207	61544207	T	G	exonic	ZSWIM6	.	nonsynonymous SNV	ZSWIM6:NM_020928:exon14:c.T3538G:p.L1180V,	Acromelic frontonasal dysostosis, Autosomal dominant	.	436	1085	1	0	0	1	0.000460617	.	.	2881497	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.186	B	0.166	B	0.000	D	0.755	N	1.95	M	0.82	T	-0.852	T	0.133	T	0.341	3.962	20.3	-2.11	-0.240	0.075	14.990	0.122	0.0187019783032	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	1.94e-05	3	154602	rs775086998	5.359e-05	5.13e-05	4.23e-05	6.52e-05	0.0004	4.378e-05	3.994e-05	0.0002	0.0002	0	0	0	0	0	0.0004	4.541e-05	1.724e-05	0.0003	1.97e-05	1.968e-05	2.57e-05	1.343e-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	0.121	0.27783	T	0.088	0.40586	T	0.186	0.29254	B	0.166	0.35067	B	0.000424	0.44522	D	0.151544	0.754967	0.29599	N	1.995	0.54099	M	0.82	0.48142	T	-1.42	0.34992	N	0.46	0.49692	-0.8522	0.51816	T	0.133	0.44544	T	10	0.14630741	0.27739	T	0.018702	0.40848	T	0.122	0.33800	.	.	0.0297737177859	0.01360	0.6126464284422759	0.61196	1.29320391004	0.82848	0.870992779732	0.92709	D	0.01034	0.09344	T	-0.350949	0.04667	T	-0.451748	0.27503	T	0.159527334124566	0.17837	T	0.999332	0.99748	D	0.07630858	0.17248	0.11451302	0.27641	0.07630858	0.17248	0.11451302	0.27641	-6.462	0.49992	T	0.3632467547893454	0.45948	0.149	0.33039	B	.	.	2.136043	0.27195	17.38	0.99329519864358651	0.59700	0.85326	0.44448	D	AEFBI	0.245325	0.36628	N	-0.372949753978124	0.26436	1.442804	-0.358755057823734	0.26238	1.448034	0.999742808649777	0.42466	0.706548	0.73137	0	0.588066	0.40923	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.46	-2.11	0.06787	-0.134000	0.10415	-0.703000	0.07785	0.649000	0.52879	0.849000	0.30428	0.016000	0.20520	1.000000	0.97212	0.0:0.7981:0.0:0.2019	14.990	0.71033	609	0.67094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2131.98	39	chr5	61544207	.	T	G	2131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.380e-01;DP=1177;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-1.117e+00;SOR=0.843	GT:AD:DP:GQ:PL	0/1:94,92:186:99:2146,0,2220	20	0	1	0
chr5	69311153	69311153	C	A	exonic	CCDC125	.	nonsynonymous SNV	CCDC125:NM_001297696:exon4:c.G415T:p.G139C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	0.999	D	1.04	L	0.76	T	-0.743	T	0.200	T	0.808	3.210	16.75	4.61	1.331	3.228	12.020	0.300	0.0619861606488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.68238	D	0.007	0.92824	D	0.998	0.90584	D	0.976	0.97372	D	0.000001	0.84330	D	0.054094	0.998449	0.47237	D	2.625	0.76847	M	0.76	0.49919	T	-6.11	0.90023	D	0.708	0.73916	-0.7425	0.58324	T	0.200	0.55541	T	10	0.54208964	0.63777	D	0.061986	0.68507	D	0.300	0.62068	0.195	0.10705	0.165133752707	0.16062	0.339706962852607	0.33883	0.243934458103	0.26902	0.559532821178	0.47202	T	0.238428	0.72107	T	0.128121	0.67178	D	-0.0537399	0.66765	D	0.986595153808594	0.77273	D	.	.	.	0.6096633	0.73210	0.42577276	0.66376	0.6096633	0.73211	0.42577276	0.66376	-12.809	0.88560	D	.	.	0.619	0.69657	P	.;.;.;.	.;.;.;.	4.231117	0.64072	24.7	0.99559064824812771	0.71645	0.85071	0.44174	D	AEFBI	0.579871	0.58050	D	0.252662408288359	0.53769	3.544557	0.254407861883821	0.52900	3.461883	0.0805244858623903	0.15848	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.48	4.61	0.56724	3.610000	0.53874	4.816000	0.45080	-0.272000	0.06708	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.9157:0.0:0.0843	12.020	0.52629	976	0.04745	.;.;.;.	.	.	.	.	.	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	0.02381	1134.98	33	chr5	69311153	.	C	A	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.740e-01;DP=803;ExcessHet=0.0000;FS=1.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=0.096;SOR=0.615	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1149,0,987	20	0	1	0
chr5	73901264	73901264	G	A	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon23:c.G3115A:p.V1039I	.	.	433	1084	4	1	0	6	0.00275989	.	.	252001	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.918	P	0.172	B	0.595	N	0.993	N	1.995	M	3.16	T	-1.060	T	0.047	T	0.05	2.545	14.47	3.7	1.310	2.226	10.119	0.070	0.00633159708661	0.0038	0.00119808	0.0032	0.0008	0.0010	0.0001	0.0022	0.0049	0.0024	0.0013	0.0032082	496	154602	rs188040167	0.0040	0.0040	0.0040	0.0040	0.0045	0.0039	0.0039	0.0044	0.0044	0.0007	0.0014	0.0056	0.0004	0.0025	0.0023	0.0045	0.0039	0.0019	0.0031	0.0031	0.0030	0.0033	0.0044	0.0029	0.0028	0.0039	0.0038	0.0009	0	0.0044	0.0052	0.0008	0.0030	0.0136	0.0044	0.0043	0.0023	0.189	0.21550	T	0.262	0.24913	T	0.227	0.50838	B	0.027	0.35394	B	0.595123	0.11012	N	0.676215	0.996042	0.23711	N	2.08	0.57402	M	3.16	0.31470	T	-0.15	0.09297	N	0.114	0.15609	-1.0596	0.11855	T	0.047	0.20156	T	10	0.0044407547	0.00091	T	0.006332	0.16639	T	0.070	0.20419	.	.	0.200317383148	0.19677	0.0576468309696133	0.05705	0.0627731416284	0.06987	0.287181049585	0.08513	T	0.009089	0.09278	T	-0.606514	0.00133	T	-0.642901	0.09460	T	0.00681652945253357	0.00077	T	0.658334	0.26756	T	0.05561786	0.10834	0.062134627	0.12107	0.05561786	0.10833	0.062134627	0.12107	-4.739	0.33872	T	.	.	0.095	0.19919	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.930635	0.38935	20.8	0.99577022287281558	0.72742	0.65386	0.32720	D	AEFDGBCIJ	0.098433	0.19836	N	0.044416719433256	0.43886	2.67289	0.120652306431048	0.45608	2.820831	0.999999953391344	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.52	3.7	0.41607	2.260000	0.42923	4.311000	0.42969	0.676000	0.76740	0.907000	0.31601	0.999000	0.35428	0.988000	0.63387	0.1633:0.0:0.8367:0.0	10.119	0.41783	819	0.41190	.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1244.98	39	chr5	73901264	.	G	A	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.700e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.151;SOR=0.616	GT:AD:DP:GQ:PL	0/1:40,53:93:99:1259,0,907	20	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	1.000	N	1.61	L	0.06	T	-0.973	T	0.133	T	0.568	0.412	6.238	-2.42	-0.580	-0.566	0.344	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	835.18	74	chr5	75146001	.	A	G	835.18	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-2.826e+00;DP=1745;ExcessHet=6.1002;FS=93.999;InbreedingCoeff=-0.2987;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.04;SOR=11.037	GT:AD:DP:GQ:PL	0/1:54,24:78:99:117,0,802	11	0	10	0
chr5	76461582	76461582	A	T	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_006633:exon2:c.A59T:p.D20V,	.	.	421	1100	1	0	0	1	0.000454339	.	.	3455232	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.564	P	0.168	B	0.000	D	1.000	D	0.55	N	4.26	T	-0.754	T	0.008	T	0.589	3.211	16.75	4.16	1.880	6.838	12.618	0.290	0.0771909289029	7.7e-05	.	6.6e-05	0.0002	0	0	0	9.004e-05	0	0	5.17e-05	8	154602	rs148247178	6.092e-05	6.156e-05	5.04e-05	7.154e-05	0.0007	5.031e-05	4.674e-05	0.0004	0.0003	0.0006	6.71e-05	0	0	0	0.0007	4.41e-05	0.0002	0	4.596e-05	4.593e-05	6.425e-05	2.686e-05	4.812e-05	2.108e-05	1.526e-05	7.97e-06	2.98e-06	4.812e-05	0	0	0	0	9.418e-05	0.0068	2.94e-05	0	0	0.002	0.72154	D	0.007	0.69154	D	0.564	0.38410	P	0.168	0.35187	B	0.000001	0.84330	D	0.000000	1	0.81001	D	2.005	0.54552	M	4.26	0.02538	T	-3.93	0.73267	D	0.633	0.64648	-0.7541	0.57721	T	0.008	0.02679	T	10	0.46589726	0.59568	T	0.077191	0.72712	D	0.290	0.60924	.	.	0.473774312618	0.47003	0.6165399681002249	0.61585	0.85127929624	0.68546	0.894383132458	0.95794	D	0.519524	0.83171	D	-0.18306	0.23281	T	-0.314825	0.43139	T	0.303968405174412	0.25167	T	0.949005	0.80370	D	0.52999604	0.68830	0.4396985	0.67314	0.52999604	0.68831	0.4396985	0.67314	-3.834	0.21313	T	.	.	0.573	0.67748	P	.	.	4.149065	0.62223	24.4	0.98817679895476573	0.46720	0.98702	0.85770	D	AEFBI	0.889894	0.82442	D	0.109836575911654	0.46920	2.925177	0.221260177962911	0.51029	3.289045	0.999997578209096	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.16	4.16	0.48138	7.189000	0.77281	10.926000	0.84261	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	12.618	0.55944	935	0.14827	.	.	.	.	.	.	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	0.02381	934.98	34	chr5	76461582	.	A	T	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.850e-01;DP=755;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.377;SOR=0.910	GT:AD:DP:GQ:PL	0/1:33,40:73:99:949,0,743	20	0	1	0
chr5	76875385	76875385	T	A	exonic	S100Z	.	nonsynonymous SNV	S100Z:NM_130772:exon3:c.T26A:p.M9K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.919	D	0.000	D	1.000	D	.	.	2.79	T	-1.102	T	0.083	T	0.962	4.879	28.0	5.69	2.164	4.757	15.611	0.536	0.0627910347853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.967	0.56408	D	0.919	0.65474	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	2.79	0.11189	T	-5.58	0.86450	D	0.939	0.94668	-1.1019	0.03869	T	0.083	0.32614	T	9	0.9282266	0.92167	D	0.062791	0.68764	D	0.536	0.80545	0.759	0.88811	0.0138822411134	0.00435	0.8686250610848661	0.86827	0.501948534993	0.48567	0.477370023727	0.35695	T	0.150732	0.49035	T	0.208433	0.74682	D	0.0616236	0.74352	D	0.993864357471466	0.84849	D	0.821218	0.48050	T	0.98303944	0.99333	0.96526104	0.99244	0.98303944	0.99333	0.96526104	0.99244	-14.595	0.94830	D	.	.	0.167	0.37820	B	.;.;.	.;.;.	3.710842	0.52979	23.3	0.98545816141918563	0.42783	0.98510	0.83546	D	ALL	0.841734	0.75891	D	0.624611583867838	0.74736	6.183352	0.638274231593096	0.77740	6.737961	0.999999999999996	0.74766	0.645564	0.44392	1	0.0	0.00010	3	0.606884	0.38211	0	0.542086	0.14980	0	.	.	5.69	5.69	0.88346	4.774000	0.62033	3.443000	0.38394	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.0:1.0	15.611	0.76464	843	0.36859	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1509.98	33	chr5	76875385	.	T	A	1509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.334;DP=807;ExcessHet=0.0000;FS=1.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.082;SOR=0.552	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1524,0,1536	20	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R,	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.94	P	0.749	P	0.000	D	1.000	D	-0.205	N	-1.44	T	-0.130	T	0.367	T	0.889	4.515	24.3	5.29	2.134	7.877	15.569	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	163.69	50	chr5	79044510	.	T	C	163.69	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.041e+00;DP=1356;ExcessHet=0.6776;FS=85.976;InbreedingCoeff=-0.1009;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=0.743;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,18:99:87:0|1:79044510_T_C:87,0,3056:79044510	17	0	4	0
chr5	79044511	79044511	G	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787G:p.H263D,	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.98	D	0.759	P	0.000	D	1.000	D	0.895	L	-1.46	T	0.018	D	0.491	T	0.933	4.798	27.1	5.29	2.641	9.658	19.355	0.698	0.0572291225831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.132	0.34477	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	-1.46	0.80983	T	-2.37	0.52289	N	0.869	0.86618	0.018	0.82617	D	0.491	0.80683	T	10	0.70717055	0.72812	D	0.057229	0.66892	D	0.698	0.89099	0.622	0.75690	0.868318187846	0.86703	0.9026088343444532	0.90232	0.676553549043	0.59772	0.552397727966	0.46196	T	0.063196	0.32114	T	0.364451	0.87590	D	0.285732	0.87431	D	0.988304376602173	0.78653	D	0.912409	0.68863	D	0.8928231	0.90750	0.8229594	0.89729	0.8928231	0.90752	0.8229594	0.89729	-8.003	0.61091	D	0.4876948001241698	0.56516	0.823	0.78383	P	.;.	.;.	4.294393	0.65523	24.8	0.99466512279193564	0.66102	0.99561	0.97457	D	AEFBI	0.953048	0.96901	D	0.463370793232331	0.64968	4.763473	0.561045492508772	0.72167	5.767662	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	97.27	50	chr5	79044511	.	G	C	97.27	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.163e+00;DP=1163;ExcessHet=0.0000;FS=136.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.98;ReadPosRankSum=0.379;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,18:99:87:0|1:79044510_T_C:87,0,3056:79044510	20	0	1	0
chr5	79044513	79044513	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A785G:p.E262G,	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.046	B	0.015	B	0.018	N	0.876	D	1.78	L	-1.95	D	-0.111	T	0.487	T	0.243	2.519	14.38	5.29	2.134	3.870	11.557	0.249	0.0407194796191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.112	0.58089	T	0.006	0.13644	B	0.015	0.17295	B	0.018093	0.27565	N	0.413393	0.876159	0.35658	D	1.975	0.53506	M	-1.95	0.85003	D	-4.14	0.77308	D	0.198	0.21839	-0.1106	0.79853	T	0.487	0.80466	T	10	0.38317823	0.54346	T	0.040719	0.59531	D	0.249	0.55752	0.531	0.63855	0.780453205906	0.77843	0.47059044108981435	0.46978	0.280322745389	0.30512	0.34006434679	0.16447	T	0.205226	0.56422	T	-0.01942	0.48935	T	-0.265672	0.48257	T	0.925464451313019	0.58720	D	0.913909	0.69352	D	0.41467655	0.61735	0.39909327	0.64481	0.41467655	0.61736	0.39909327	0.64481	-8.185	0.62323	D	0.533196133106151	0.60378	0.112	0.34405	B	.;.	.;.	3.763344	0.54010	23.4	0.99697088183515725	0.80385	0.87655	0.47267	D	AEFBI	0.613043	0.60089	D	-0.145664601528285	0.35419	2.034196	-0.0444280272822651	0.37732	2.21327	0.47275466971767	0.20721	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	3.861000	0.55713	4.188000	0.42384	0.665000	0.62972	0.933000	0.32380	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1493:0.8507	11.557	0.50009	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	58.98	50	chr5	79044513	.	T	C	58.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.863e+00;DP=1017;ExcessHet=0.0000;FS=50.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.61;ReadPosRankSum=0.963;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,16:97:73:0|1:79044510_T_C:73,0,3061:79044510	20	0	1	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.307	B	0.06	B	0.477	N	1.000	N	0.895	L	1.34	T	-1.052	T	0.048	T	0.062	0.785	8.138	-1.25	-0.073	0.529	4.559	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	140.72	97	chr5	79737121	.	T	C	140.72	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.679e+00;DP=1715;ExcessHet=1.1607;FS=178.575;InbreedingCoeff=-0.1308;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.09;SOR=10.961	GT:AD:DP:GQ:PL	0/1:70,23:93:99:114,0,1624	16	0	5	0
chr5	94708578	94708578	A	T	exonic	MCTP1	.	nonsynonymous SNV	MCTP1:NM_001297777:exon19:c.T1941A:p.S647R	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.837	P	0.448	P	0.000	D	1.000	D	-1.04	N	0.0	T	-0.879	T	0.146	T	0.318	2.812	15.37	3.94	0.903	2.382	8.221	0.112	0.0328861670327	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303683134	6.854e-07	6.84e-07	0	1.378e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.009	0.66756	D	0.837	0.46346	P	0.448	0.46037	P	0.000051	0.53742	D	0.206735	0.998067	0.45528	D	-1.28	0.00734	N	-1.03	0.76430	T	-0.26	0.11185	N	0.513	0.54409	-0.8786	0.49872	T	0.146	0.47092	T	10	0.10715276	0.19891	T	0.032886	0.54590	D	0.112	0.31546	0.421	0.46365	0.326881540566	0.32305	0.6117209323001348	0.61104	1.19461018506	0.80358	0.486866146326	0.37005	T	0.01376	0.11844	T	-0.0317791	0.47159	T	-0.283425	0.46453	T	0.947543978691101	0.62704	D	0.927307	0.73215	D	0.09222847	0.21630	0.08235821	0.18789	0.09222847	0.21630	0.08235821	0.18788	-6.837	0.58534	T	.	.	0.799	0.77241	P	.;.;.;.;.	.;.;.;.;.	3.713002	0.53021	23.3	0.99444164624713971	0.64921	0.80963	0.40471	D	AEFGBHCI	0.433026	0.49466	N	-0.431417507959181	0.24375	1.315662	-0.219092353543329	0.30852	1.740705	0.999981668453423	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.1	3.94	0.44807	2.951000	0.48782	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8444:0.0:0.1556:0.0	8.221	0.30703	855	0.34697	Phosphoribosyltransferase C-terminal;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1325.98	33	chr5	94708578	.	A	T	1325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.001e+00;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-7.120e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1340,0,1111	20	0	1	0
chr5	94917957	94917957	G	A	exonic	MCTP1	.	nonsynonymous SNV	MCTP1:NM_001002796:exon8:c.C626T:p.A209V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.002	B	0.654	N	0.978	N	0.69	N	-0.85	T	-0.892	T	0.242	T	0.1	0.057	4.313	0.023	-0.195	0.336	7.965	0.092	0.0223382344442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.20835	T	0.257	0.23231	T	0.0	0.02946	B	0.001	0.06944	B	0.654435	0.10483	N	0.827446	0.999998	0.25305	N	0.345	0.11182	N	-1.05	0.76690	T	-0.11	0.08653	N	0.131	0.12770	-0.8919	0.48767	T	0.242	0.61036	T	10	0.05772838	0.06675	T	0.022338	0.45218	T	0.092	0.26621	0.46	0.52753	0.167679373172	0.16340	0.21328893533460982	0.21244	0.39476767676	0.40628	0.319848179817	0.13398	T	0.009768	0.08869	T	-0.167556	0.25604	T	-0.478459	0.24611	T	0.0183257409189131	0.00551	T	0.649735	0.26051	T	0.035266653	0.04117	0.046123948	0.06359	0.035266653	0.04116	0.046123948	0.06359	-3.556	0.17225	T	.	.	0.081	0.08129	B	.;.;.;.	.;.;.;.	1.665901	0.21242	15.11	0.7458720122530752	0.10751	0.07849	0.13842	N	AEFBCI	0.064778	0.12598	N	-1.20075927317162	0.04989	0.2264372	-1.1844763609419	0.06169	0.2960843	0.101981413849868	0.16399	0.67177	0.52595	0	0.588015	0.36545	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.14	0.023	0.13455	0.257000	0.18137	.	.	-0.946000	0.02057	0.152000	0.23684	0.324000	0.24338	0.536000	0.29845	0.4707:0.0:0.5293:0.0	7.965	0.29255	405	0.82444	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	566.98	34	chr5	94917957	.	G	A	566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.200e-01;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.78;ReadPosRankSum=0.070;SOR=0.746	GT:AD:DP:GQ:PL	0/1:32,26:58:99:581,0,780	20	0	1	0
chr5	102270771	102270771	T	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.A655G:p.T219A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.001	B	0.008	B	0.114	N	1.000	N	0.905	L	1.2	T	-1.061	T	0.060	T	0.127	-0.368	2.265	0.664	-0.108	-0.762	4.822	0.035	0.00737551040094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.667e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02141	T	0.765	0.04555	T	0.001	0.07471	B	0.008	0.13708	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.195	0.09149	N	1.2	0.37405	T	-0.41	0.14000	N	0.126	0.11912	-1.0613	0.11434	T	0.060	0.24981	T	10	0.033189237	0.01488	T	0.007376	0.19576	T	0.035	0.08770	0.398	0.42590	0.0954503805726	0.09146	0.173178965912641	0.17237	0.04234262313	0.04565	0.265042543411	0.05506	T	0.005402	0.04851	T	-0.294574	0.09181	T	-0.660912	0.08205	T	0.0230593997985125	0.01031	T	0.171083	0.01625	T	0.031705566	0.03059	0.026906235	0.00808	0.031705566	0.03059	0.026906235	0.00808	-3.985	0.23578	T	.	.	0.063	0.01512	B	.	.	-0.611083	0.01542	0.100	0.21569347130836103	0.00828	0.05116	0.10920	N	AEFBI	0.081174	0.16422	N	-1.05674882497369	0.07456	0.3464054	-1.03940957767455	0.08928	0.4414944	0.0182638168567323	0.13039	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	0.664	0.17060	-0.710000	0.05127	-0.485000	0.08896	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.1385:0.3532:0.0:0.5083	4.822	0.12759	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	68.89	58	chr5	102270771	.	T	C	68.89	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.570e+00;DP=963;ExcessHet=0.1072;FS=57.095;InbreedingCoeff=-0.0663;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=0.816;SOR=6.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,8:51:34:0|1:102270770_G_C:34,0,1333:102270770	18	0	2	1
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	1/2:1,49,37,0:87:99:2771,1542,2433,1269,0,1882,2930,2122,1770,3729	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	0/1:43,27,1:71:99:1037,0,2460,1107,1827,3658	3	5	12	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC:p.Q857_T990delinsYIYIWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0003	0.0002	0.0004	0.0008	0.0003	0.0011	0.0022	3.84e-05	1	26028	rs760127445	0.0002	0.0007	0.0001	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0003	0	0.0002	0.0003	0.0003	6.589e-06	0.0003	1.289e-05	0	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:77,0,0,9,0:86:99:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:139,378,3600,378,3600,3600,0,3223,3223,3195,378,3600,3600,3223,3600:116015368	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:p.Q857Yfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0003	0.0001	0.0003	0.0005	0	0.0021	3.84e-05	1	26028	rs760127445	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	9.111e-05	0.0002	0.0001	0.0001	0.0006	0	0.0002	0.0002	0.0002	0.0001	0.0016	9.04e-05	0.0001	0.0002	7.612e-05	6.311e-05	0.0001	7.945e-05	4.827e-05	0	0	0	0.0002	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:77,0,0,9,0:86:99:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:139,378,3600,378,3600,3600,0,3223,3223,3195,378,3600,3600,3223,3600:116015368	16	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA:p.Q857Yfs*7,	.	.	435	1072	3	0	12	15	0.0013973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.857e-05	8.687e-05	1.94e-05	3.786e-05	0.0002	2.126e-05	1.913e-05	9.71e-06	7.73e-06	0	2.327e-05	0	0	0.0003	0.0002	1.552e-05	1.684e-05	3.656e-05	6.593e-06	0.0002	0	1.35e-05	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	984.49	110	chr5	116015368	.	T	TATATATATATATATGGAAC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG,TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA	984.49	.	AC=1,1,2,1;AF=0.024,0.024,0.048,0.024;AN=42;BaseQRankSum=0.519;DP=1335;ExcessHet=1.1607;FS=35.459;InbreedingCoeff=-0.1351;MLEAC=1,1,2,1;MLEAF=0.024,0.024,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.10;ReadPosRankSum=-2.189e+00;SOR=4.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:77,0,0,9,0:86:99:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:139,378,3600,378,3600,3600,0,3223,3223,3195,378,3600,3600,3223,3600:116015368	16	0	1	0
chr5	116015370	116015370	-	TCACAGATGCTGGCTA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2569_2570insTCACAGATGCTGGCTA:p.Q857Lfs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	9.94e-05	0	0	0.0002	0	0	3.84e-05	1	26028	rs749164698	4.499e-06	0.0004	4.446e-06	4.552e-06	1.409e-05	1.62e-06	1.06e-06	.	.	0	0	0	0	9.164e-05	0	0	1.798e-05	1.409e-05	7.727e-06	0.0006	1.498e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	436.45	39	chr5	116015370	.	C	CTCACAGATGCTGGCTA,A	436.45	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.28;DP=1348;ExcessHet=0.3300;FS=41.519;InbreedingCoeff=-0.0783;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=1.65;ReadPosRankSum=-1.755e+00;SOR=3.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9,0:86:99:0|1:116015368_T_TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:140,0,3194,378,3221,3599:116015368	18	0	2	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.695	N	1.000	D	3.32	M	-5.39	D	1.101	D	0.983	D	0.927	4.525	24.4	4.86	2.698	7.609	18.546	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4583	1580.95	81	chr5	128288438	.	C	G	1580.95	.	AC=11;AF=0.458;AN=24;BaseQRankSum=-1.136e+00;DP=1745;ExcessHet=7.7275;FS=212.727;InbreedingCoeff=-0.5735;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=1.53;SOR=10.054	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,44:110:99:.:.:149,0,606	1	0	11	9
chr5	134715052	134715052	G	A	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_021982:exon19:c.G2756A:p.R919H,	.	.	.	.	.	.	.	.	.	.	.	2204646	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.165	B	0.069	B	0.000	D	1.000	D	2.305	M	-2.54	D	0.194	D	0.680	D	0.653	4.483	24.0	5.82	2.743	6.625	20.085	0.512	0.0374214094893	.	.	2.484e-05	0	0	0	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs538416137	3.218e-05	3.283e-05	2.18e-05	4.266e-05	9.304e-05	2.48e-05	2.222e-05	4.591e-05	3.281e-05	0	0	0	2.526e-05	0	0	3.239e-05	3.315e-05	9.304e-05	2.63e-05	2.627e-05	0	5.383e-05	0.0002	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.411e-05	0	0	0.028	0.46129	D	0.003	0.76473	D	0.142	0.27621	B	0.034	0.22546	B	0.000000	0.84330	D	0.047695	1	0.81001	D	2.715	0.79425	M	-2.54	0.89496	D	-4.06	0.74582	D	0.339	0.38027	0.194	0.85805	D	0.680	0.88944	D	10	0.273405	0.44889	T	0.037421	0.57603	D	0.512	0.79094	0.511	0.60846	0.877194912468	0.87599	0.5488952972550776	0.54815	0.126449546592	0.14255	0.541811347008	0.44702	T	0.249858	0.61988	T	0.0936055	0.63593	D	0.0788283	0.75499	D	0.570958701454308	0.35271	D	0.925407	0.72589	D	0.26772255	0.49844	0.249872	0.50567	0.26772255	0.49844	0.249872	0.50566	-8.509	0.64488	D	.	.	0.117	0.23779	B	.	.	4.450507	0.69175	25.3	0.99849745748558205	0.92925	0.98938	0.88891	D	AEFDBI	0.810324	0.73360	D	0.301410942098703	0.56220	3.786502	0.446638068577311	0.64503	4.706779	0.999999999999515	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	6.737000	0.74619	.	.	0.592000	0.32167	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.0:1.0:0.0	20.085	0.97797	625	0.65529	Sec23/Sec24, helical domain	.	.	.	.	.	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	0.02381	1174.98	40	chr5	134715052	.	G	A	1174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.63;SOR=0.693	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1189,0,1042	20	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.106	B	0.102	B	0.001	N	0.755	D	0.35	N	1.58	T	-1.019	T	0.045	T	0.06	3.188	16.67	5.29	2.473	2.054	10.020	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	1317.98	74	chr5	139887481	.	C	T	1317.98	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-4.144e+00;DP=2291;ExcessHet=6.1002;FS=235.435;InbreedingCoeff=-0.3991;MLEAC=11;MLEAF=0.324;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.733;SOR=11.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,31:126:99:0|1:139887481_C_T:134,0,2809:139887481	7	0	10	4
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.928	P	0.653	P	0.001	D	0.844	D	1.37	L	-0.42	T	-0.572	T	0.250	T	0.143	3.573	18.21	1.49	-0.008	0.043	8.579	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;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1380.18	70	chr5	139887483	.	C	G,T	1380.18	.	AC=7,3;AF=0.184,0.079;AN=38;BaseQRankSum=-4.039e+00;DP=2146;ExcessHet=6.1002;FS=245.753;InbreedingCoeff=-0.3923;MLEAC=8,3;MLEAF=0.211,0.079;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.802;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,31,0:126:99:0|1:139887481_C_T:134,0,2809,416,2894,3310:139887481	9	0	7	2
chr5	140850017	140850017	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G1522A:p.V508M	.	.	424	1061	33	4	0	41	0.0189552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.95	D	0.013	U	1.000	N	2.68	M	0.11	T	-0.732	T	0.258	T	0.48	2.804	15.34	3.56	1.973	0.146	4.962	0.300	.	0.0034	0.0081869	0.0078	0.0007	0.0033	0.0003	0.0032	0.0054	0.0078	0.0308	0.0070633	1092	154602	rs149779533	0.0058	0.0058	0.0050	0.0067	0.0305	0.0057	0.0057	0.0295	0.0291	0.0007	0.0028	0.0104	0.0030	0.0043	0.0090	0.0042	0.0060	0.0305	0.0042	0.0042	0.0038	0.0046	0.0296	0.0039	0.0038	0.0256	0.0241	0.0007	0	0.0050	0.0117	0.0017	0.0030	0.0103	0.0043	0.0067	0.0296	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.95	0.68788	D	0.013244	0.28902	U	0.000000	1	0.81001	D	2.865	0.83145	M	0.11	0.61208	T	-2.89	0.60827	D	0.286	0.32370	-0.7319	0.58867	T	0.258	0.62834	T	10	0.008924365	0.00202	T	.	.	.	0.300	0.62068	.	.	0.699004069071	0.69640	0.19655199186583552	0.19572	.	.	.	.	.	0.080859	0.36462	T	-0.367512	0.03722	T	-0.278369	0.46971	T	0.0443135886129694	0.04477	T	0.950905	0.81262	D	0.29469377	0.52425	0.2953771	0.55569	0.29469377	0.52424	0.2953771	0.55568	-8.262	0.62842	D	.	.	0.519	0.65448	A	.;.	.;.	2.831974	0.37339	20.5	0.99825595724751592	0.90764	0.08827	0.14698	N	AEFBI	0.138797	0.26020	N	0.21702517213743	0.52026	3.379325	0.0612865957479353	0.42620	2.581126	1.06077236194766E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.56	3.56	0.39892	-0.382000	0.07466	.	.	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.548000	0.30127	0.2898:0.0:0.7102:0.0	4.962	0.13417	32	0.98147	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	0.04762	5727.11	201	chr5	140850017	.	G	A	5727.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.90;DP=3558;ExcessHet=0.1072;FS=5.854;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.64;MQRankSum=0.490;QD=14.61;ReadPosRankSum=1.01;SOR=0.479	GT:AD:DP:GQ:PL	0/1:87,92:179:99:2670,0,2203	19	0	2	0
chr5	141173765	141173765	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G930C:p.E310D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3	M	-0.65	T	-0.346	T	0.537	D	0.586	2.417	14.04	-1.57	-0.340	0.442	10.905	0.474	0.202633084596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999782	0.20372	N	3.055	0.86842	M	-0.65	0.72237	T	-2.94	0.61435	D	0.544	0.57092	-0.3457	0.73678	T	0.537	0.82887	D	9	0.9353602	0.92867	D	0.202633	0.86831	D	0.474	0.76685	0.817	0.93127	0.794638162076	0.79272	0.2056605258777981	0.20483	0.542382466446	0.51350	0.462000310421	0.33585	T	0.126879	0.45355	T	0.0487642	0.58182	T	-0.16773	0.57650	T	0.970979869365692	0.69145	D	0.909209	0.67884	D	0.39501306	0.60385	0.42082992	0.66034	0.39501306	0.60386	0.42082992	0.66034	-11.333	0.81453	D	.	.	0.814	0.77941	P	.	.	2.079273	0.26445	17.12	0.996342216413029	0.76264	0.23594	0.22126	N	AEFDBI	0.227155	0.35101	N	0.0545368441754623	0.44352	2.710791	-0.191872681521743	0.31834	1.805331	0.0134669852051686	0.12468	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	-1.57	0.08055	0.632000	0.24273	.	.	0.676000	0.76740	0.107000	0.22934	0.000000	0.08366	0.938000	0.47775	0.5702:0.0:0.4298:0.0	10.905	0.46286	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	69.11	136	chr5	141173765	.	G	C	69.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.822e+00;DP=1723;ExcessHet=0.1072;FS=310.904;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.985;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,33:172:47:0|1:141173765_G_C:47,0,4107:141173765	19	0	2	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.758	P	0.516	P	.	.	1.000	N	1.855	L	4.57	T	-0.969	T	0.012	T	0.448	1.619	11.37	2.79	0.455	-0.994	4.291	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,33,0:172:47:0|1:141173765_G_C:47,0,4107,458,4201,4659:141173765	5	0	5	9
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.006	B	.	.	1.000	N	-0.505	N	4.98	T	-0.901	T	0.002	T	0.037	-0.559	1.475	2.79	0.455	-0.994	4.291	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,33,0:172:47:0|1:141173765_G_C:47,0,4107,458,4201,4659:141173765	5	0	5	9
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,32,0:178:33:0|1:141303079_C_G:33,0,5309,466,5397,5863:141303079	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,32,0:178:33:0|1:141303079_C_G:33,0,5309,466,5397,5863:141303079	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,32:178:33:0|1:141303079_C_G:33,0,5309:141303079	1	0	20	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925: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	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:159,113:272:99:1038,0,2709	6	0	15	0
chr5	141403718	141403718	C	T	exonic	PCDHGA9	.	nonsynonymous SNV	PCDHGA9:NM_018921:exon1:c.C766T:p.P256S	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00379393	0.0090	0.0018	0.0038	0	0.0426	0.0109	0.0179	0	0.0085769	1326	154602	rs77227638	0.0099	0.0099	0.0104	0.0095	0.0107	0.0098	0.0098	0.0105	0.0105	0.0013	0.0027	0.0013	0	0.0372	0.0009	0.0107	0.0074	3.478e-05	0.0089	0.0089	0.0081	0.0096	0.0116	0.0085	0.0083	0.0109	0.0107	0.0018	0.0099	0.0026	0.0017	0	0.0390	0	0.0116	0.0071	0	.	.	.	0.087	0.50514	T	0.251	0.36725	B	0.099	0.43430	B	.	.	.	.	1	0.81001	D	1.645	0.42016	L	0.58	0.54149	T	.	.	.	0.106	0.09066	.	.	.	.	.	.	.	0.0028806329	0.00046	T	.	.	.	.	.	.	.	0.895932456608	0.89490	0.25120172243692335	0.25034	0.360842157286	0.37744	.	.	.	0.084659	0.37328	T	-0.555548	0.00270	T	-0.559751	0.16400	T	.	.	.	0.680232	0.28883	T	0.058086567	0.11641	0.20739435	0.44997	0.058086567	0.11641	0.20739435	0.44996	-4.64	0.33573	T	.	.	0.078	0.06990	B	.;.	.;.	1.954196	0.24822	16.54	0.99046135643137423	0.51140	0.39129	0.26143	N	AEFBI	0.390331	0.46920	N	.	.	.	.	.	.	0.940727519584655	0.27444	0.582742	0.33608	0	0.588066	0.40923	0	0.578056	0.29568	0	0.620976	0.48614	0	.	.	5.23	3.38	0.37806	0.177000	0.16615	.	.	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.594000	0.31239	0.139:0.7187:0.1423:0.0	11.336	0.48741	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	rs77227638	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	0.02381	2239.98	35	chr5	141403718	.	C	T	2239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.312e+00;DP=880;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-1.752e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/1:92,91:183:99:2254,0,2417	20	0	1	0
chr5	141951533	141951533	G	A	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon2:c.C2938T:p.H980Y,	.	.	424	1097	1	0	0	1	0.000455581	.	.	709687	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.817	P	0.297	B	0.000	D	0.992	D	1.935	M	0.65	T	-1.042	T	0.051	T	0.221	3.520	17.98	6.08	2.894	5.297	11.423	0.204	.	0.0080	0.00878594	0.0022	0.0252	0.0007	0	0	0	0.0022	6.056e-05	0.0021733	336	154602	rs115735066	0.0007	0.0007	0.0009	0.0006	0.0272	0.0007	0.0007	0.0257	0.0251	0.0272	0.0009	0	0	0	0.0005	1.349e-05	0.0017	5.797e-05	0.0066	0.0067	0.0069	0.0064	0.0232	0.0063	0.0062	0.0220	0.0215	0.0232	0	0.0019	0	0	0	0.0034	2.939e-05	0.0061	0.0006	0.044	0.41096	D	0.16	0.31427	T	0.817	0.45613	P	0.297	0.40924	B	0.000003	0.62929	D	0.107907	0.992297	0.41606	D	2.38	0.68558	M	0.65	0.52642	T	0.6	0.02518	N	0.266	0.30118	-1.0424	0.16592	T	0.051	0.21533	T	10	0.0053402185	0.00117	T	.	.	.	0.204	0.49076	.	.	0.503930629158	0.50032	0.2525412034171004	0.25168	0.31335243846	0.33626	0.558099746704	0.46999	T	0.018796	0.15087	T	-0.470926	0.00839	T	-0.428957	0.30052	T	0.0265397764859839	0.01480	T	0.737926	0.35508	T	0.092234604	0.21633	0.16213822	0.37678	0.092234604	0.21633	0.16213822	0.37677	-3.713	0.19510	T	.	.	0.154	0.34094	B	.	.	3.649277	0.51779	23.1	0.99616307619226552	0.75112	0.75311	0.36868	D	ALL	0.544581	0.55945	D	0.508953476249754	0.67618	5.105639	0.59960088179922	0.74911	6.218435	0.999999999999983	0.74766	0.50284	0.20314	0	0.596394	0.48810	0	0.440796	0.06475	0	0.654926	0.60358	0	.	.	6.08	6.08	0.98982	5.351000	0.65790	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0811:0.0:0.9189:0.0	11.423	0.49234	858	0.34001	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	779.98	36	chr5	141951533	.	G	A	779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.193;DP=798;ExcessHet=0.0000;FS=1.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.88;ReadPosRankSum=0.090;SOR=0.970	GT:AD:DP:GQ:PL	0/1:61,38:99:99:794,0,1438	20	0	1	0
chr5	141957293	141957293	C	T	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon1:c.G559A:p.G187S,	.	.	427	1094	1	0	0	1	0.00045683	.	.	709691	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.6	T	0.991	D	0.876	P	0.000	D	0.797	D	1.24	L	2.13	T	-1.085	T	0.025	T	0.281	1.304	10.27	4.98	2.605	0.429	9.213	0.126	.	0.0080	0.00838658	0.0022	0.025	0.0007	0	0	0	0.0022	6.26e-05	0.0021474	332	154602	rs140883612	0.0007	0.0007	0.0008	0.0006	0.0271	0.0007	0.0007	0.0256	0.0250	0.0271	0.0009	0	0	0	0.0005	1.349e-05	0.0017	5.806e-05	0.0066	0.0066	0.0068	0.0064	0.0230	0.0063	0.0061	0.0218	0.0213	0.0230	0	0.0019	0	0	0	0.0034	4.41e-05	0.0061	0.0006	0.133	0.26409	T	0.019	0.59159	D	0.991	0.64070	D	0.876	0.62173	P	0.000076	0.52346	D	0.127172	0.797432	0.34466	D	1.815	0.47718	L	2.13	0.19588	T	-0.83	0.22727	N	0.098	0.07949	-1.0848	0.06444	T	0.025	0.10777	T	10	0.0051528513	0.00112	T	.	.	.	0.126	0.34673	.	.	0.253726318573	0.24972	0.49192788781278046	0.49113	0.5713921237	0.53264	0.441338300705	0.30760	T	0.061612	0.31699	T	-0.544897	0.00313	T	-0.535886	0.18703	T	0.0111614599710575	0.00163	T	0.738626	0.35686	T	0.07479807	0.16809	0.092463315	0.21791	0.07479807	0.16809	0.092463315	0.21790	-2.569	0.06271	T	.	.	0.132	0.28521	B	.	.	3.102171	0.41810	21.4	0.9917075080154012	0.54383	0.26050	0.22880	N	AEFDGBI	0.149849	0.27402	N	0.102486158055573	0.46578	2.896079	0.0568482951372234	0.42404	2.564202	0.999998496345684	0.74766	0.608746	0.35421	0	0.588066	0.40923	0	0.602189	0.34648	0	0.605231	0.38476	0	.	.	4.98	4.98	0.65679	0.202000	0.17094	.	.	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.439000	0.27649	0.0:0.9043:0.0:0.0957	9.213	0.36490	876	0.30350	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	0.02381	2886.98	128	chr5	141957293	.	C	T	2886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-1.782e+00;SOR=0.696	GT:AD:DP:GQ:PL	0/1:90,104:194:99:2901,0,2358	20	0	1	0
chr5	149820496	149820496	G	A	exonic	PPARGC1B	.	nonsynonymous SNV	PPARGC1B:NM_001172698:exon2:c.G142A:p.D48N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.325	M	1.5	T	-0.616	T	0.254	T	0.275	5.625	36	5.76	2.724	9.230	19.968	0.252	0.0277941607984	.	.	8.254e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs765282052	2.942e-05	2.941e-05	2.178e-05	3.713e-05	0.0002	2.217e-05	1.97e-05	0.0001	0.0001	0	0	0	0	0	0	2.338e-05	0	0.0002	3.284e-05	3.281e-05	6.426e-05	0	0.0002	1.26e-05	7.98e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	9.42e-05	0	2.94e-05	0	0.0002	0.016	0.51853	D	0.006	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	1.37	0.37230	T	-2.86	0.67014	D	0.579	0.70878	-0.6155	0.64176	T	0.254	0.62451	T	10	0.48067212	0.60411	T	0.027794	0.50565	D	0.252	0.56159	0.223	0.14665	0.698665058881	0.69606	0.3628740980695406	0.36201	0.676653026678	0.59782	0.754237115383	0.75072	T	0.730269	0.92445	D	-0.234452	0.16064	T	-0.314872	0.43134	T	0.768432156151593	0.44345	D	0.975002	0.91107	D	0.339749	0.56259	0.33051488	0.58920	0.339749	0.56259	0.33051488	0.58919	-8.509	0.64488	D	.	.	0.313	0.59578	B	.;.;.;.	.;.;.;.	5.294917	0.88897	29.8	0.99929699347273726	0.99279	0.99149	0.91949	D	AEFBI	0.881073	0.80817	D	0.937827556326218	0.93487	12.07131	0.923162819112412	0.96505	14.77864	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.76	5.76	0.90726	9.317000	0.95419	11.754000	0.95474	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.968	0.97276	814	0.42100	.;.;.;.	.	.	.	.	.	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	0.02381	916.98	34	chr5	149820496	.	G	A	916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.730;DP=829;ExcessHet=0.0000;FS=0.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-5.200e-02;SOR=0.573	GT:AD:DP:GQ:PL	0/1:42,39:81:99:931,0,994	20	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:93,32:134:91:91,0,1840	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,444,0:444:99:.:.:19756,1348,0,19756,1348,19756	0	12	1	0
chr5	175964993	175964993	A	G	exonic	THOC3	.	nonsynonymous SNV	THOC3:NM_001376902:exon3:c.T587C:p.M196T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.01	B	0.000	D	1.000	D	-0.345	N	5.09	T	-0.615	T	0.003	T	0.81	2.319	13.71	4.97	1.859	9.295	13.809	0.342	0.0495625733992	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774263540	0	6.86e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.431	0.16037	T	0.0	0.02946	B	0.001	0.04355	B	0.000001	0.62929	D	0.127824	1	0.81001	D	1.04	0.26193	L	5.09	0.01238	T	-2.34	0.51811	N	0.866	0.86297	-0.6148	0.64205	T	0.003	0.01026	T	10	0.52397704	0.62803	D	0.049563	0.63867	D	0.342	0.66392	0.418	0.45873	0.0920862733494	0.08535	0.46133492882702487	0.46051	.	.	0.894206643105	0.95773	D	0.048212	0.27950	T	0.0652997	0.60273	T	-0.143978	0.59772	T	0.938771307468414	0.60967	D	0.910909	0.68443	D	0.39631137	0.60476	0.21488133	0.46055	0.39631137	0.60477	0.21488133	0.46054	-9.166	0.69632	D	.	.	0.215	0.49461	B	.;.	.;.	4.253408	0.64587	24.7	0.95433474359174064	0.26929	0.98394	0.82329	D	AEGI	0.955402	0.97322	D	-0.161628468267979	0.34742	1.986722	0.0853018091966509	0.43808	2.674986	0.996726101299099	0.34958	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.97	4.97	0.65419	9.281000	0.95000	11.126000	0.86672	0.725000	0.85415	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.809	0.62741	765	0.49814	Translation initiation factor, beta propellor-like domain|WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	203.98	35	chr5	175964993	.	A	G	203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.247e+00;DP=590;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=38.19;MQRankSum=0.549;QD=5.37;ReadPosRankSum=0.116;SOR=0.134	GT:AD:DP:GQ:PL	0/1:28,10:38:99:218,0,987	20	0	1	0
chr5	176599107	176599107	G	C	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.C728G:p.P243R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.982	D	0.778	P	.	.	1.000	N	1.65	L	3.12	T	-1.073	T	0.037	T	0.06	1.736	11.76	3.07	1.721	-0.354	9.657	0.027	0.0198205850542	.	.	1.649e-05	0	0	0	0	3e-05	0	0	3.84e-05	1	26028	rs754227254	3.421e-06	3.42e-06	1.361e-06	5.501e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.035	0.52389	D	0.982	0.60036	D	0.778	0.57212	P	.	.	.	.	1	0.08975	N	1.87	0.49600	L	3.12	0.08106	T	-1.51	0.36787	N	0.1	0.08227	-1.0732	0.08724	T	0.037	0.16029	T	9	0.13800588	0.26248	T	0.019821	0.42278	T	0.027	0.05988	0.231	0.15855	0.0675242888579	0.06100	0.06842452452680453	0.06780	.	.	0.213826268911	0.00984	T	0.00832	0.07645	T	-0.353749	0.04496	T	-0.730426	0.04309	T	0.532104909420013	0.33812	D	0.420658	0.11177	T	0.07265261	0.16177	0.07925795	0.17828	0.07265261	0.16177	0.07925795	0.17827	-8.07	0.61546	D	.	.	0.099	0.16626	B	.	.	2.133053	0.27159	17.37	0.99697912984243642	0.80385	0.14961	0.18674	N	AEFDBI	0.055248	0.10114	N	-0.172298350746243	0.34292	1.955519	-0.340539351828455	0.26802	1.482894	0.994262755300793	0.33559	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.96	3.07	0.34476	-0.378000	0.07503	1.089000	0.23963	0.492000	0.22399	0.000000	0.06391	0.002000	0.18203	0.086000	0.17578	0.1107:0.0:0.8893:0.0	9.657	0.39096	374	0.84073	.	.	.	.	.	.	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	0.02381	1220.98	65	chr5	176599107	.	G	C	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.635e+00;DP=1446;ExcessHet=0.0000;FS=4.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=-1.690e-01;SOR=0.338	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1235,0,940	20	0	1	0
chr5	179522611	179522611	C	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522611	.	C	T,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=-1.750e-01;DP=1073;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.35;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.950e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,43,0:93:99:0|1:179522611_C_T:1655,0,1970,1806,2099,3905:179522611	9	3	5	3
chr5	179522612	179522612	A	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522612	.	A	G,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=1.64;DP=1065;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.37;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.910e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,43,0:93:99:0|1:179522611_C_T:1655,0,1970,1806,2099,3905:179522611	9	3	5	3
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.898	P	0.352	B	0.000	D	1.000	D	0	N	3.34	T	-0.753	T	0.007	T	0.514	4.428	23.5	5.62	2.648	8.682	18.632	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1333	104.37	43	chr6	7411419	.	G	C	104.37	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-3.187e+00;DP=1695;ExcessHet=0.6776;FS=158.280;InbreedingCoeff=-0.2215;MLEAC=5;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=0.406;SOR=10.867	GT:AD:DP:GQ:PL	0/1:68,21:89:40:40,0,1011	11	0	4	6
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/3:17,0,0,9,0,0:26:99:1073,870,2147,447,1867,2400,0,837,752,670,870,2147,1867,837,2147,870,2147,1867,837,2147,2147	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/3:17,0,0,9,0,0:26:99:1073,870,2147,447,1867,2400,0,837,752,670,870,2147,1867,837,2147,870,2147,1867,837,2147,2147	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/3:17,0,0,9,0,0:26:99:1073,870,2147,447,1867,2400,0,837,752,670,870,2147,1867,837,2147,870,2147,1867,837,2147,2147	9	0	3	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:51,12,12:75:99:139,0,886,142,835,1025	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:51,12,12:75:99:139,0,886,142,835,1025	2	0	6	2
chr6	25606189	25606189	C	T	exonic	CARMIL1	.	nonsynonymous SNV	CARMIL1:NM_001173977:exon35:c.C3745T:p.P1249S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.999	D	0.011	N	1.000	D	2.015	M	0.85	T	-0.789	T	0.248	T	0.536	4.715	26.2	5.85	2.753	4.881	20.165	0.176	0.0294604521229	.	.	.	.	.	.	.	.	.	.	.	.	.	rs972085978	3.421e-06	3.42e-06	1.361e-06	5.501e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.028	0.54934	D	0.983	0.60381	D	0.659	0.52771	P	0.011032	0.29689	N	0.360567	1	0.81001	D	.	.	.	0.85	0.47130	T	-2.51	0.54546	D	0.354	0.39558	-0.7886	0.55811	T	0.248	0.61681	T	10	0.32523286	0.49837	T	0.02946	0.51963	D	0.176	0.44373	0.302	0.27003	0.386842465239	0.38294	0.35483330121469064	0.35397	0.312674147591	0.33571	0.459985256195	0.33308	T	0.23875	0.60672	T	-0.031988	0.47126	T	-0.283725	0.46421	T	0.935799121856689	0.60429	D	0.946905	0.79612	D	0.0852597	0.19770	0.12790383	0.30782	0.0852597	0.19770	0.12790383	0.30781	-4.62	0.32422	T	.	.	0.142	0.31228	B	.	.	3.336118	0.45945	22.2	0.99921339012170296	0.98787	0.98338	0.81774	D	AEFBI	0.622603	0.60686	D	0.66128394466272	0.77100	6.610287	0.678468920858752	0.80748	7.368211	0.999999999650159	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	4.754000	0.61888	4.081000	0.41738	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.647000	0.32611	0.0:1.0:0.0:0.0	20.165	0.98148	612	0.66786	.	.	.	.	.	.	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	0.02381	721.98	34	chr6	25606189	.	C	T	721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.099e+00;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=0.890;SOR=0.813	GT:AD:DP:GQ:PL	0/1:34,34:68:99:736,0,826	20	0	1	0
chr6	28245882	28245882	A	G	exonic	ZKSCAN4	.	nonsynonymous SNV	ZKSCAN4:NM_001304506:exon5:c.T407C:p.I136T	.	.	374	1146	2	0	0	2	0.00087184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.35	N	3.42	T	-0.914	T	0.003	T	0.012	0.862	8.491	-7.22	-1.379	-1.869	16.055	0.100	0.00459233522114	0.0002	0.000399361	0.0004	9.61e-05	0	0	0	0.0008	0	0	0.0004204	65	154602	rs138392767	0.0005	0.0005	0.0004	0.0005	0.0019	0.0004	0.0004	0.0011	0.0008	2.987e-05	0.0002	0	0	1.872e-05	0.0019	0.0006	0.0007	9.275e-05	0.0004	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0	0	6.543e-05	0	0	0	0	0.0008	0.0009	0.0002	0.641	0.04987	T	0.279	0.21745	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.115	0.28702	L	3.42	0.05507	T	0.03	0.06612	N	0.008	0.00068	-0.9141	0.46338	T	0.003	0.01059	T	9	0.008164704	0.00185	T	0.004592	0.11346	T	0.100	0.28662	.	.	0.0482279557977	0.04254	0.05790900392372576	0.05731	0.212277476401	0.23727	0.287721008062	0.08591	T	0.002654	0.02045	T	-0.724419	0.00026	T	-0.882177	0.00636	T	0.010757442633631	0.00152	T	0.246975	0.03645	T	0.039847687	0.05579	0.09537517	0.22617	0.039847687	0.05579	0.09537517	0.22616	-3.043	0.10651	T	.	.	0.089	0.12276	B	.	.	-0.903757	0.00920	0.034	0.44883036092030798	0.03483	0.01464	0.04890	N	AEFBI	0.027687	0.02306	N	-1.63493717248839	0.01100	0.04775507	-1.69649308072218	0.01153	0.05186064	0.701273697510943	0.22703	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.1	-7.22	0.01335	-4.092000	0.00336	-1.049000	0.06489	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.074000	0.16894	0.3549:0.0:0.6451:0.0	16.055	0.80604	467	0.78285	Krueppel-associated box	.	.	.	.	.	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	0.02381	1965.98	33	chr6	28245882	.	A	G	1965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.030e-01;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-3.000e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:79,81:160:99:1980,0,1999	20	0	1	0
chr6	29174110	29174110	C	G	exonic	OR2J2	.	nonsynonymous SNV	OR2J2:NM_030905:exon1:c.C475G:p.L159V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.024	B	.	.	1.000	N	-0.165	N	1.15	T	-0.923	T	0.011	T	0.121	-3.376	0.001	1.37	0.261	-1.645	7.674	0.019	0.001500723617	8.2e-05	.	1.657e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs371534901	1.369e-06	2.394e-05	0	2.752e-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	1.979e-05	1.972e-05	2.577e-05	1.352e-05	7.273e-05	5.26e-06	2.46e-06	1.929e-05	1.034e-05	7.273e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.15	0.38236	T	0.96	0.01488	N	0.029	0.00666	-0.9233	0.45098	T	0.011	0.04181	T	9	0.042119116	0.02930	T	0.001501	0.02318	T	0.019	0.03383	.	.	0.238705975628	0.23479	0.08282110823060854	0.08217	0.0741517770283	0.08315	0.198077693582	0.00403	T	.	.	.	-0.451935	0.01100	T	-0.705422	0.05534	T	0.0340307874556924	0.02643	T	0.630137	0.24490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10642	B	.;.	.;.	0.231638	0.06126	2.574	0.053242049265392132	0.00010	0.00891	0.03504	N	AEFGBI	0.033660	0.04036	N	-1.2309376549323	0.04557	0.205914	-1.17719845359601	0.06292	0.3024219	6.20628665476017E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	1.37	0.21200	-1.227000	0.03060	.	.	0.294000	0.18828	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.4515:0.5485:0.0:0.0	7.674	0.27642	759	0.50631	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	0	0	0	0	0	0	0	1	0	0	0	0.02778	222.09	210	chr6	29174110	.	C	G	222.09	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-7.172e+00;DP=4911;ExcessHet=0.0000;FS=385.495;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=59.90;MQRankSum=0.929;QD=0.69;ReadPosRankSum=0.857;SOR=9.230	GT:AD:DP:GQ:PL	0/1:235,85:335:99:235,0,4815	17	0	1	3
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11446.09	83	chr6	29942948	.	C	G,*	11446.09	.	AC=7,5;AF=0.167,0.119;AN=42;BaseQRankSum=2.18;DP=2279;ExcessHet=3.2961;FS=4.407;InbreedingCoeff=-0.1632;MLEAC=7,5;MLEAF=0.167,0.119;MQ=58.86;MQRankSum=-2.836e+00;QD=8.92;ReadPosRankSum=-1.240e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:94,0,10:104:99:0|1:29942911_A_G:137,420,4367,0,3947,3917:29942911	10	1	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,12:90:99:0|1:29942911_A_G:269,504,3779,0,3275,3239:29942911	3	4	8	2
chr6	29942985	29942985	A	0	exonic	HLA-A	.	.	.	.	.	8	1279	183	12	40	247	0.0748644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	3424.32	96	chr6	29942985	.	A	G,*	3424.32	.	AC=3,3;AF=0.094,0.094;AN=32;BaseQRankSum=1.35;DP=1731;ExcessHet=0.1217;FS=2.663;InbreedingCoeff=0.0413;MLEAC=4,4;MLEAF=0.125,0.125;MQ=57.98;MQRankSum=-3.446e+00;QD=8.10;ReadPosRankSum=-2.600e-01;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,12:90:99:0|1:29942911_A_G:269,504,3779,0,3275,3239:29942911	11	1	1	5
chr6	29943542	29943542	G	0	exonic	HLA-A	.	.	.	.	.	2	437	1008	1	74	1084	0.536093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6146.8	107	chr6	29943542	.	G	T,*	6146.8	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-1.114e+00;DP=2095;ExcessHet=14.4320;FS=2.349;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=58.53;MQRankSum=-3.892e+00;QD=4.14;ReadPosRankSum=1.73;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,16,0:100:99:.:.:257,0,2361,509,2409,2918	6	0	13	1
chr6	30986577	30986577	-	GTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT	exonic	MUC21	.	nonframeshift insertion	MUC21:NM_001010909:exon2:c.402_403insGTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT:p.T134_A135insVTNSGSSVTSSGAST	.	.	432	1042	32	2	14	50	0.0169811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0.0003	0.0002	0	0.0002	0.0012	0.0001	.	.	.	rs775032573	0.0063	0.0072	0.0060	0.0066	0.0253	0.0062	0.0062	0.0239	0.0234	0.0075	0.0086	0.0228	0.0253	0.0118	0.0063	0.0049	0.0099	0.0036	0.0019	0.0023	0.0017	0.0021	0.0029	0.0017	0.0016	0.0022	0.0020	0.0014	0	0.0029	0.0083	0.0006	0.0007	0	0.0019	0.0039	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	8671.07	432	chr6	30986577	.	A	AGTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT	8671.07	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.56;DP=9916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3247;MLEAC=1;MLEAF=0.028;MQ=56.48;MQRankSum=-1.213e+01;QD=17.14;ReadPosRankSum=-6.110e+00;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,239:506:99:0|1:30986577_A_AGTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT:8684,0,10215:30986577	17	0	1	3
chr6	30986592	30986592	C	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6165.17	432	chr6	30986592	.	C	G,*	6165.17	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=1.61;DP=9807;ExcessHet=0.1128;FS=3.221;InbreedingCoeff=0.0789;MLEAC=1,1;MLEAF=0.028,0.028;MQ=57.72;MQRankSum=-3.235e+00;QD=5.39;ReadPosRankSum=2.99;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,173,0:446:99:0|1:30986577_A_AGTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT:6178,0,10912,6999,11432,18432:30986577	16	0	1	3
chr6	30986616	30986661	TAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	13728.66	432	chr6	30986616	.	TAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC	T,CAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC,*	13728.66	.	AC=1,2,1;AF=0.024,0.048,0.024;AN=42;BaseQRankSum=-8.230e-01;DP=9954;ExcessHet=0.6776;FS=6.065;InbreedingCoeff=-0.1053;MLEAC=1,2,1;MLEAF=0.024,0.048,0.024;MQ=57.99;MQRankSum=-4.406e+00;QD=7.47;ReadPosRankSum=1.85;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:260,0,98,0:358:99:0|1:30986577_A_AGTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT:3332,4115,15014,0,10899,10604,4115,15014,10899,15014:30986577	17	0	1	0
chr6	30986657	30986657	A	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	8234.21	432	chr6	30986657	.	A	G,*	8234.21	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.397;DP=9754;ExcessHet=0.3476;FS=4.024;InbreedingCoeff=0.0459;MLEAC=2,1;MLEAF=0.053,0.026;MQ=57.05;MQRankSum=-7.199e+00;QD=5.26;ReadPosRankSum=-6.990e-01;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,160,0:413:99:0|1:30986577_A_AGTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT:5722,0,9954,6482,10435,16917:30986577	16	0	2	2
chr6	30986661	30986661	C	0	exonic	MUC21	.	.	.	.	.	454	958	96	0	14	110	0.0477137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	8575.67	432	chr6	30986661	.	C	T,*	8575.67	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-3.158e+00;DP=9758;ExcessHet=0.3476;FS=3.259;InbreedingCoeff=0.0789;MLEAC=2,1;MLEAF=0.050,0.025;MQ=57.03;MQRankSum=-7.002e+00;QD=6.47;ReadPosRankSum=1.40;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,161,0:406:99:0|1:30986577_A_AGTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT:5773,0,9612,6516,10096,16613:30986577	17	0	2	1
chr6	31029811	31029811	-	GCAGGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4380_4381insGCAGGC:p.T1460_S1461insAG	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28994679	0.0017	0.0017	0.0015	0.0019	0.0071	0.0016	0.0016	0.0053	0.0046	0.0004	0.0019	0.0047	0.0004	0.0061	0.0071	0.0013	0.0023	0.0048	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0.0014	0.0005	0.0015	0.0002	0.0008	0	0.0008	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:423,0,327:750:99:.:.:10492,12192,29862,0,15039,14090	16	0	3	0
chr6	31029811	31029811	T	0	exonic	MUC22	.	.	.	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	42976.19	583	chr6	31029811	.	T	TGCAGGC,*	42976.19	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-4.195e+00;DP=15094;ExcessHet=1.1607;FS=0.524;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=59.64;MQRankSum=-2.283e+00;QD=9.77;ReadPosRankSum=-2.270e-01;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:423,0,327:750:99:.:.:10492,12192,29862,0,15039,14090	16	0	3	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:423,0,0,327:750:99:.:.:10492,12192,29862,12192,29862,29862,0,15039,15039,14090	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:423,0,0,327:750:99:.:.:10492,12192,29862,12192,29862,29862,0,15039,15039,14090	8	0	6	2
chr6	31111679	31111679	C	T	exonic	C6orf15	.	stopgain	C6orf15:NM_014070:exon2:c.G680A:p.W227X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.008	N	1.000	D	.	.	.	.	.	.	.	.	.	3.601	18.33	3.51	1.035	1.877	9.472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.372e-06	1.368e-06	1.364e-06	1.38e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008295	0.30918	N	0.154071	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.21710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544351	0.95574	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.169763	0.99612	45	0.99291713847927288	0.58290	0.62012	0.31654	D	AEFBI	0.177524	0.30477	N	0.384371616690111	0.60575	4.24792	0.201776469683126	0.49947	3.191928	0.998311681984561	0.36741	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.4	3.51	0.39297	1.908000	0.39537	.	.	0.589000	0.31548	0.966000	0.33990	1.000000	0.68203	0.886000	0.42526	0.3853:0.6147:0.0:0.0	9.472	0.38011	929	0.16858	.	.	.	.	.	.	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	0.02381	1405.98	72	chr6	31111679	.	C	T	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.921;DP=1632;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=-1.087e+00;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,51:96:99:1|0:31111663_C_T:1420,0,1669:31111663	20	0	1	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	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	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,123,0:123:99:.:.:3531,368,0,3531,368,3531	0	13	5	0
chr6	31271148	31271148	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G544A:p.A182T	.	.	1	1353	168	0	0	168	0.0584551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.822	P	0.515	P	0.795	U	1.000	N	2.28	M	5.66	T	-0.967	T	0.053	T	0.511	2.068	12.87	-2.58	-0.698	-1.272	0.915	0.025	.	0.0240	.	0.0430	0.0121	0.1132	0.0579	0.0499	0.0394	0.0507	0.0168	0.03368	5207	154602	rs141142418	0.0006	0.0028	0.0006	0.0007	0.0011	0.0006	0.0006	0.0006	0.0005	0.0003	0.0008	0.0135	0.0001	0.0008	0.0011	0.0004	0.0009	0.0008	1.469e-05	0.0021	2.82e-05	0	2.718e-05	0	0	.	.	0	0	0	0	0	0	0	2.718e-05	0	0	0.047	0.40319	D	0.121	0.35970	T	0.822	0.45767	P	0.419	0.45047	B	0.795036	0.06734	U	1.179000	1	0.08975	N	.	.	.	5.66	0.00776	T	-0.89	0.24026	N	0.015	0.00181	-0.9671	0.37794	T	0.053	0.22501	T	10	0.0028352141	0.00045	T	.	.	.	0.119	0.33137	.	.	.	.	0.07332682000125977	0.07269	0.70685437836	0.61463	0.316008090973	0.12816	T	0.037375	0.24453	T	-0.522055	0.00428	T	-0.503075	0.22029	T	0.0104027637738938	0.00143	T	0.0633937	0.00461	T	.	.	.	.	.	.	.	.	-6.365	0.49236	T	.	.	0.098	0.18206	B	.;.;.	.;.;.	1.362665	0.17716	13.33	0.98029197626042341	0.37697	0.01653	0.05307	N	AEFGBHCI	0.078452	0.15829	N	-0.785009583433136	0.13700	0.6767906	-1.04354844085745	0.08841	0.4367424	0.999999235206876	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.58	0.05866	-1.307000	0.02841	.	.	-0.270000	0.06752	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1642:0.2513:0.162:0.4225	0.915	0.01221	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2749.11	173	chr6	31271148	.	C	T	2749.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.341e+00;DP=3648;ExcessHet=0.1072;FS=7.721;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.20;MQRankSum=5.62;QD=7.07;ReadPosRankSum=3.15;SOR=1.043	GT:AD:DP:GQ:PL	0/1:95,89:184:99:1861,0,3713	19	0	2	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,81,0,0:183:99:0|1:31271153_A_C:3053,0,4039,3360,4283,7643,3360,4283,7643,7643:31271153	0	0	16	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,60,0:60:99:1|1:31356168_A_C:2655,181,0,2655,181,2655:31356168	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,43,0:94:99:.:.:1627,0,2012,1780,2141,3922	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,21:58:99:0|1:31356407_C_G:770,882,2435,0,1554,1490:31356407	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,21,22:43:99:0|1:31356712_C_A:1806,884,812,882,0,816:31356712	9	1	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6123.37	83	chr6	31356717	.	AGGT	A,*	6123.37	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=1.37;DP=1099;ExcessHet=0.3152;FS=5.478;InbreedingCoeff=0.1923;MLEAC=7,9;MLEAF=0.167,0.214;MQ=53.41;MQRankSum=-6.729e+00;QD=7.95;ReadPosRankSum=0.357;SOR=1.082	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,22,21:43:99:0|1:31356715_GC_G:1806,882,816,884,0,812:31356715	9	1	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8459.57	86	chr6	31356719	.	GT	G,*	8459.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=1.98;DP=1112;ExcessHet=0.3152;FS=5.449;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.97;MQRankSum=-6.719e+00;QD=10.80;ReadPosRankSum=-1.130e-01;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,21,22:43:99:0|1:31356712_C_A:1806,884,812,882,0,816:31356712	9	1	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,70,0:70:99:1|1:31356729_C_T:3150,211,0,3150,211,3150:31356729	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,66:139:99:0|1:31356770_G_C:2491,2711,5756,0,3045,2846:31356770	0	5	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:32,0,0,32:64:99:.:.:1182,1279,2613,1279,2613,2613,0,1334,1334,1238	2	2	2	0
chr6	31642332	31642332	C	A	exonic	BAG6	.	nonsynonymous SNV	BAG6:NM_001098534:exon15:c.G2007T:p.M669I	.	.	439	1074	9	0	0	9	0.00417246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.002	B	0.844	N	0.963	N	0	N	1.58	T	-1.007	T	0.013	T	0.23	1.477	10.89	-7.47	-1.413	-1.907	2.266	0.100	0.00619318597971	.	0.000798722	0.0012	0	0	0	0	0.0020	0.0055	0.0007	0.0005563	86	154602	rs200073459	0.0012	0.0010	0.0012	0.0013	0.0098	0.0012	0.0012	0.0071	0.0061	0.0002	0.0015	0.0019	0	0.0001	0.0098	0.0013	0.0016	0.0008	0.0012	0.0011	0.0012	0.0012	0.0024	0.0010	0.0010	0.0017	0.0014	0.0002	0	0.0024	0.0006	0	0	0.0246	0.0016	0.0037	0.0003	0.339	0.23095	T	0.312	0.25907	T	0.0	0.02946	B	0.001	0.04355	B	0.844225	0.09011	N	0.933958	0.96287	0.38315	D	0	0.06538	N	1.58	0.41392	T	-0.11	0.08653	N	0.128	0.19055	-1.0072	0.27789	T	0.013	0.05225	T	10	0.00830403	0.00188	T	0.006193	0.16229	T	0.100	0.28662	0.138	0.04187	0.385559283137	0.38164	0.18721864571625946	0.18639	1.03916753808	0.75728	0.431131720543	0.29363	T	0.075354	0.35156	T	-0.552697	0.00281	T	-0.596766	0.13083	T	0.00462383412583578	0.00049	T	.	.	.	0.06880875	0.15022	0.11778844	0.28435	0.06880875	0.15021	0.11778844	0.28434	-4.16	0.26301	T	.	.	0.133	0.32969	B	.;.;.;.;.	.;.;.;.;.	-0.254350	0.02825	0.392	0.88478079957050781	0.18008	0.08068	0.14041	N	AEFBI	0.172226	0.29925	N	-1.2251491229347	0.04638	0.2097326	-1.24542024499014	0.05198	0.2471481	0.999999782173703	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.93	-7.47	0.01221	-1.979000	0.01583	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.2493:0.2064:0.0827:0.4615	2.266	0.03829	889	0.27310	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	763.98	31	chr6	31642332	.	C	A	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e-01;DP=785;ExcessHet=0.0000;FS=1.372;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.19;ReadPosRankSum=-4.000e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:14,28:42:99:778,0,301	20	0	1	0
chr6	31679209	31679209	G	A	exonic	LY6G5C	.	nonsynonymous SNV	LY6G5C:NM_025262:exon2:c.C181T:p.R61C,	.	.	437	1018	66	1	0	68	0.0323194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.894	P	0.312	B	0.727	N	0.517	N	0.695	N	-2.24	D	-0.885	T	0.234	T	0.392	2.910	15.70	0.459	-0.037	0.580	4.467	0.360	.	0.0036	0.0227636	0.0169	0.0046	0.0068	0.0109	0	0.0020	0.0217	0.0987	0.0145664	2252	154602	rs145921744	0.0081	0.0081	0.0054	0.0107	0.0926	0.0079	0.0079	0.0909	0.0902	0.0063	0.0044	3.826e-05	0.0079	7.643e-05	0.0097	0.0019	0.0157	0.0926	0.0065	0.0065	0.0053	0.0076	0.0885	0.0061	0.0060	0.0816	0.0789	0.0051	0	0.0047	0	0.0168	0.0002	0.0034	0.0022	0.0147	0.0885	0.01	0.56456	D	0.02	0.58613	D	0.894	0.49185	P	0.312	0.41466	B	0.727062	0.09886	N	0.818192	0.516679	0.31863	D	1.445	0.36358	L	-2.24	0.87194	D	-2.76	0.58569	D	0.084	0.06059	-0.8846	0.49390	T	0.234	0.60063	T	10	0.0023189783	0.00034	T	.	.	.	0.360	0.68052	.	.	.	.	0.5892804808007955	0.58858	1.21905781881	0.81036	0.264205992222	0.05402	T	0.10245	0.41018	T	-0.347274	0.04900	T	-0.195046	0.55114	T	0.0382722174144337	0.03381	T	0.676832	0.28555	T	0.06356132	0.13397	0.04214743	0.04952	0.06356132	0.13397	0.04214743	0.04952	-9.13	0.68530	D	.	.	0.113	0.22428	B	.	.	3.510531	0.49159	22.7	0.99587674766532908	0.73395	0.44099	0.27244	N	AEFBI	0.135247	0.25552	N	-0.330590158614823	0.27992	1.540278	-0.33022311357452	0.27128	1.503155	0.981238292143273	0.30236	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.46	0.459	0.15890	0.600000	0.23803	.	.	-0.105000	0.15698	0.999000	0.42656	0.955000	0.29136	0.971000	0.54645	0.1148:0.0:0.4773:0.4079	4.467	0.11114	895	0.25842	.	.	.	.	.	rs145921744	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3832.11	36	chr6	31679209	.	G	A	3832.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.37;DP=971;ExcessHet=0.1072;FS=4.765;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.609;SOR=0.982	GT:AD:DP:GQ:PL	0/1:64,74:138:99:1988,0,1357	19	0	2	0
chr6	31765767	31765767	G	A	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon17:c.C2503T:p.R835W,	.	.	428	1041	52	1	0	54	0.0252809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.688	P	0.036	B	0.372	N	1.000	N	0.345	N	2.66	T	-0.941	T	0.007	T	0.141	2.500	14.32	1.82	0.237	0.316	10.977	0.060	.	0.0015	0.0209665	0.0146	0.0027	0.0019	0.0123	0	0.0010	0.0268	0.1120	0.0121344	1876	154602	rs28399997	0.0068	0.0069	0.0044	0.0092	0.0853	0.0067	0.0066	0.0836	0.0830	0.0019	0.0018	0	0.0075	7.829e-05	0.0075	0.0012	0.0156	0.0853	0.0046	0.0046	0.0039	0.0054	0.0820	0.0043	0.0042	0.0753	0.0727	0.0020	0	0.0025	0	0.0151	9.414e-05	0	0.0012	0.0128	0.0820	0.023	0.48186	D	0.021	0.58089	D	0.688	0.41582	P	0.036	0.22909	B	0.372373	0.04370	N	1.482110	1	0.08975	N	0	0.06538	N	2.66	0.12575	T	-0.7	0.19933	N	0.058	0.02964	-0.9414	0.42394	T	0.007	0.02518	T	10	0.0016879141	0.00021	T	.	.	.	0.108	0.30607	.	.	.	.	0.32778010401152163	0.32691	0.679698092416	0.59945	0.351189315319	0.18097	T	0.001842	0.01261	T	-0.654375	0.00068	T	-0.641561	0.09556	T	0.0175965136085105	0.00492	T	.	.	.	0.13188592	0.30727	0.0849881	0.19592	0.13188592	0.30727	0.0849881	0.19592	-5.029	0.37153	T	.	.	0.070	0.03443	B	.	.	3.391797	0.46967	22.4	0.98701022032391184	0.44910	0.33231	0.24778	N	AEFDBCI	0.294634	0.40496	N	-0.705706012100094	0.15861	0.8031031	-0.717490922813437	0.16525	0.8746093	0.999998793596396	0.74766	0.65757	0.49021	0	0.550933	0.16991	0	0.619478	0.44681	0	0.613276	0.41899	0	.	.	4.87	1.82	0.24209	0.359000	0.19970	.	.	0.672000	0.70159	0.982000	0.35529	0.971000	0.29754	0.021000	0.11733	0.0:0.0:0.4751:0.5249	10.977	0.46687	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2201.11	38	chr6	31765767	.	G	A	2201.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.53;DP=888;ExcessHet=0.1072;FS=0.500;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=0.513;SOR=0.734	GT:AD:DP:GQ:PL	0/1:47,36:83:99:912,0,1121	19	0	2	0
chr6	31967105	31967105	G	C	exonic	SKIV2L	.	nonsynonymous SNV	SKIV2L:NM_006929:exon20:c.G2442C:p.W814C,	Trichohepatoenteric syndrome 2, Autosomal recessive	YES	0	1513	9	0	0	9	0.0029654	.	.	895810	See_cases|Trichohepatoenteric_syndrome_2|not_provided|SKIC2-related_disorder	.|MONDO:MONDO:0013818,MedGen:C3281289,OMIM:614602,Orphanet:84064|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.985	D	0.781	P	0.000	D	1.000	D	0.895	L	1.0	T	-1.064	T	0.084	T	0.654	1.243	10.05	4.79	1.390	2.489	14.091	0.152	0.0132432397357	0.0006	0.000599042	0.0009	0.0002	0.0008	0.0001	0	0.0013	0	0.0004	0.0008344	129	154602	rs148221996	0.0009	0.0009	0.0008	0.0009	0.0055	0.0009	0.0008	0.0040	0.0035	0.0003	0.0012	0.0013	0	7.65e-05	0.0055	0.0009	0.0011	0.0007	0.0007	0.0007	0.0007	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	7.217e-05	0	0.0008	0.0006	0	0	0.0136	0.0013	0.0005	0.0004	0.102	0.30235	T	0.182	0.29249	T	0.985	0.61118	D	0.781	0.57337	P	0.000149	0.49130	D	0.171563	0.999996	0.58761	D	1.5	0.37844	L	1.0	0.41392	T	-0.57	0.17210	N	0.514	0.54496	-1.0642	0.10736	T	0.084	0.32729	T	10	0.027136385	0.00865	T	0.013243	0.32488	T	0.152	0.39956	0.448	0.50793	0.488266720666	0.48458	0.6527026082036311	0.65206	1.01233321786	0.74823	0.479667007923	0.36010	T	0.045652	0.27188	T	-0.316006	0.07230	T	-0.267231	0.48100	T	0.0455885371250696	0.04710	T	.	.	.	0.41510364	0.61764	0.24289657	0.49721	0.41510364	0.61765	0.24289657	0.49720	-4.053	0.24594	T	.	.	0.513	0.65163	A	.	.	3.394735	0.47017	22.4	0.89525173881678322	0.18872	0.96015	0.67148	D	AEFGBI	0.527268	0.54928	D	0.31194114473843	0.56762	3.841381	0.332179747563783	0.57440	3.909722	0.999999785590353	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	4.79	0.60909	1.444000	0.34679	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.1505:0.8495:0.0	14.091	0.64519	923	0.18507	rRNA-processing arch domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1670.98	35	chr6	31967105	.	G	C	1670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.043;DP=834;ExcessHet=0.0000;FS=2.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.217;SOR=0.516	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1685,0,1578	20	0	1	0
chr6	32043506	32043506	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G868A:p.A290T	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	120	1399	3	0	0	3	0.00107105	.	.	1694692	not_specified|Ehlers-Danlos_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.997	D	0.841	P	0.454	N	1.000	D	2.34	M	0.49	T	-0.887	T	0.167	T	0.246	2.279	13.58	1.71	0.032	2.579	8.498	0.200	0.0180251940798	.	0.00119808	0.0024	0.0017	0.0046	0	0	0.0035	0	0.0009	0.0003458	9	26028	rs201121030	0.0010	0.0008	0.0009	0.0011	0.0068	0.0009	0.0009	0.0043	0.0036	0.0002	0.0012	0.0012	6.07e-05	9.129e-05	0.0068	0.0012	0.0011	0.0006	0.0008	0.0008	0.0007	0.0009	0.0012	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0005	0.0003	0	0	0.0112	0.0012	0.0008	0	0.008	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.453655	0.12476	N	0.735618	0.922697	0.53665	D	.	.	.	0.49	0.55775	T	-2.65	0.69593	D	0.208	0.23125	-0.8871	0.49180	T	0.167	0.50599	T	10	0.009551793	0.00215	T	0.018025	0.39953	T	0.200	0.48430	.	.	0.165150595986	0.16160	0.41286035044583586	0.41202	0.371747863183	0.38671	0.419020175934	0.27702	T	0.094282	0.39385	T	-0.380816	0.03080	T	-0.360326	0.38016	T	0.0379868352208285	0.03329	T	0.684832	0.29327	T	0.15986133	0.35887	0.15757751	0.36839	0.15986133	0.35887	0.15757751	0.36838	-7.988	0.63082	D	0.1229657868823964	0.11852	0.113	0.23918	B	.;.;.;.;.	.;.;.;.;.	2.466423	0.31778	18.84	0.99176587259969862	0.54556	0.63644	0.32154	D	AEFGI	0.196714	0.32367	N	-0.231261647715226	0.31856	1.790603	-0.433831537383387	0.24010	1.312506	0.0100591575076075	0.11959	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.44	1.71	0.23429	1.647000	0.36876	.	.	-0.176000	0.10722	0.626000	0.27965	0.258000	0.23964	0.143000	0.20056	0.0:0.6752:0.0:0.3248	8.498	0.32299	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	124.12	11	chr6	32043506	.	C	T	124.12	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.189e+00;DP=198;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0335;MLEAC=1;MLEAF=0.024;MQ=40.00;MQRankSum=0.00;QD=17.73;ReadPosRankSum=0.328;SOR=0.941	GT:AD:DP:GQ:PL	0/1:3,4:7:99:138,0,105	20	0	1	0
chr6	32044417	32044417	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon2:c.G514A:p.D172N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	969	551	2	0	0	2	0.00181159	.	.	977220	Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|not_specified	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.998	D	0.000	D	1.000	N	1.67	L	3.61	T	-1.112	T	0.026	T	0.066	3.065	16.23	5.69	2.696	4.005	16.727	0.211	0.0112294948627	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1254121532	0.0012	0.0010	0.0011	0.0012	0.0077	0.0011	0.0010	0.0045	0.0036	9.112e-05	0.0009	0.0014	3.759e-05	4.139e-05	0.0077	0.0015	0.0012	0.0006	0.0007	0.0009	0.0005	0.0011	0.0011	0.0005	0.0004	0.0007	0.0006	0.0005	0	0	0	0	0	0.0244	0.0011	0	0	0.128	0.26965	T	0.014	0.62352	D	.	.	.	.	.	.	0.000012	0.62929	D	0.000000	0.708464	0.33494	D	.	.	.	3.61	0.04446	T	-3.02	0.63207	D	0.25	0.34981	-1.1120	0.02903	T	0.026	0.10954	T	10	0.090438515	0.15755	T	0.011229	0.28641	T	0.211	0.50185	.	.	0.34333109794	0.33943	0.15226631428976453	0.15148	3.36241963825	0.99660	0.745373129845	0.73763	T	0.065093	0.32602	T	-0.320564	0.06851	T	-0.698244	0.05922	T	0.0925209306345529	0.11513	T	0.815218	0.55818	T	0.19357169	0.41073	0.18642567	0.41814	0.19357169	0.41073	0.18642567	0.41813	-5.255	0.49767	T	0.12421210424589192	0.12153	0.243	0.49645	B	.;.;.;.;.	.;.;.;.;.	4.727138	0.76104	26.5	0.99595775648612905	0.73866	0.89054	0.49294	D	AEFGI	0.443556	0.50081	N	0.427867083973915	0.62959	4.520805	0.379457943957691	0.60300	4.216027	0.998892795442332	0.37915	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	0.735000	0.25783	.	.	0.597000	0.34315	0.339000	0.25666	1.000000	0.68203	0.221000	0.22489	0.0:1.0:0.0:0.0	16.727	0.85284	917	0.20147	Fibronectin type III;.;Fibronectin type III;.;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04545	106.45	3	chr6	32044417	.	C	T	106.45	.	AC=1;AF=0.045;AN=22;BaseQRankSum=1.15;DP=21;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1634;MLEAC=2;MLEAF=0.091;MQ=40.00;MQRankSum=0.00;QD=26.61;ReadPosRankSum=-1.150e+00;SOR=1.609	GT:AD:DP:GQ:PL	0/1:1,3:4:21:112,0,21	10	0	1	10
chr6	32056873	32056873	G	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon23:c.C7856T:p.P2619L	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	511656	Cardiovascular_phenotype|Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|not_provided|not_specified	MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.199	B	0.045	B	0.002	N	1.000	D	1.76	L	0.59	T	-1.054	T	0.091	T	0.352	2.880	15.60	4.09	1.835	3.693	13.294	0.194	0.0197306633525	0.0006	0.00119808	0.0009	0.0003	0.0006	0.0001	0	0.0014	0	0.0004	0.0008344	129	154602	rs183760368	0.0009	0.0009	0.0008	0.0009	0.0055	0.0008	0.0008	0.0040	0.0035	0.0005	0.0011	0.0013	0	7.632e-05	0.0055	0.0009	0.0010	0.0007	0.0008	0.0008	0.0007	0.0009	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0008	0.0006	0	0	0.0136	0.0013	0.0005	0.0004	0.008	0.58626	D	0.01	0.83351	D	.	.	.	.	.	.	0.001789	0.00826	N	4.968620	0.924327	0.36772	D	.	.	.	0.59	0.53943	T	-5.23	0.83899	D	0.099	0.08088	-1.0537	0.13386	T	0.091	0.34765	T	10	0.021029472	0.00495	T	0.019731	0.42166	T	0.194	0.47447	.	.	0.261638197198	0.25763	.	.	.	.	0.323908895254	0.14013	T	0.306891	0.67907	T	-0.346399	0.04957	T	-0.315907	0.43021	T	0.0957816393141036	0.11886	T	0.608539	0.40135	T	0.13196036	0.30741	0.15864444	0.37037	0.13196036	0.30741	0.15864444	0.37036	-8.539	0.64687	D	0.12497254194179234	0.12352	0.102	0.18080	B	.;.;.;.	.;.;.;.	1.410041	0.18251	13.63	0.98909816530310446	0.48345	0.40446	0.26438	N	AEFBI	0.179891	0.30718	N	-0.431817293675742	0.24360	1.314827	-0.418046539142697	0.24468	1.339998	0.875396755466803	0.25505	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	4.09	4.09	0.47038	2.671000	0.46507	.	.	0.505000	0.23025	0.102000	0.22834	0.387000	0.24645	0.002000	0.04165	0.0:0.0:1.0:0.0	13.294	0.59721	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1757.98	34	chr6	32056873	.	G	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.98;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.420;SOR=0.723	GT:AD:DP:GQ:PL	0/1:73,65:138:99:1772,0,1835	20	0	1	0
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.51	P	0.147	B	0.011	N	1.000	N	0.05	N	0.6	T	-0.940	T	0.022	T	0.141	-0.852	0.544	0.376	-0.076	0.061	7.727	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	746.15	34	chr6	32084509	.	T	C	746.15	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.746e+00;DP=1306;ExcessHet=0.6776;FS=128.029;InbreedingCoeff=-0.1093;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.37;ReadPosRankSum=1.75;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,31:139:99:0|1:32084509_T_C:307,0,4047:32084509	17	0	4	0
chr6	32220591	32220591	G	A	exonic	NOTCH4	.	nonsynonymous SNV	NOTCH4:NM_004557:exon6:c.C973T:p.H325Y,	.	.	411	1103	8	0	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.842	P	0.646	P	0.322	N	1.000	N	0.49	N	-2.83	D	-0.358	T	0.488	T	0.141	1.611	11.35	3.78	2.428	2.388	10.223	0.274	0.0369331072006	.	0.000599042	0.0005	0	0.0003	0	0	3.141e-05	0	0.0035	0.0004528	70	154602	rs551594218	0.0003	0.0003	9.938e-05	0.0004	0.0042	0.0002	0.0002	0.0038	0.0037	0	0	0	0	0	0.0016	7.194e-06	0.0002	0.0042	0.0002	0.0002	5.149e-05	0.0003	0.0050	0.0001	9.715e-05	0.0034	0.0029	2.411e-05	0	0	0	0	0	0	0	0	0.0050	0.033	0.44358	D	0.431	0.13673	T	0.002	0.09854	B	0.001	0.04355	B	0.321957	0.14256	N	0.591628	1	0.08975	N	0	0.06538	N	-2.83	0.91249	D	-0.64	0.18670	N	0.205	0.22742	-0.3582	0.73316	T	0.488	0.80510	T	10	0.021208644	0.00503	T	0.036933	0.57305	D	0.274	0.59007	0.625	0.76028	0.905669315895	0.90473	0.6806792221227372	0.68006	0.347817437779	0.36664	0.274398058653	0.06724	T	0.17478	0.52412	T	-0.372636	0.03462	T	-0.30888	0.43778	T	0.0819108051198407	0.10231	T	0.278472	0.04815	T	0.07605142	0.17173	0.15553153	0.36453	0.07605142	0.17173	0.15553153	0.36453	-8.6	0.65089	D	.	.	0.076	0.06114	B	.	.	2.999817	0.40076	21.1	0.99149528863820102	0.53765	0.36138	0.25464	N	AEFBI	0.229213	0.35277	N	-0.220548914196348	0.32291	1.819542	-0.179576242476191	0.32288	1.835475	0.655155283854017	0.22209	0.562547	0.31514	0	0.59043	0.45803	0	0.573078	0.19857	0	0.635551	0.53088	0	.	.	4.69	3.78	0.42629	1.745000	0.37904	.	.	0.618000	0.50648	0.093000	0.22645	0.999000	0.35428	0.378000	0.26290	0.0:0.0:0.8034:0.1966	10.223	0.42382	934	0.15400	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1691.98	93	chr6	32220591	.	G	A	1691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.540e-01;DP=1937;ExcessHet=0.0000;FS=0.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.980e-01;SOR=0.621	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1706,0,1526	20	0	1	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/2:0,15,15,0,0:30:99:1240,624,579,623,0,668,1250,630,671,1292,1250,630,671,1292,1292	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/2:0,15,15,0,0:30:99:1240,624,579,623,0,668,1250,630,671,1292,1250,630,671,1292,1292	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/2:0,15,15,0,0:30:99:1240,624,579,623,0,668,1250,630,671,1292,1250,630,671,1292,1292	0	1	4	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,35:132:99:0|1:32530182_G_GAA:1178,1470,5543,0,4073,3968:32530182	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,35,0:132:99:0|1:32530182_G_GAA:1178,1470,5543,0,4073,3968,1470,5543,4073,5543:32530182	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,35,0:132:99:0|1:32530182_G_GAA:1178,1470,5543,0,4073,3968,1470,5543,4073,5543:32530182	0	1	0	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:110,0,0,14:124:99:0|1:32584171_G_A:257,588,5206,588,5206,5206,0,4618,4618,4576:32584171	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:123,0,15:138:99:0|1:32584171_G_A:260,630,5795,0,5165,5120:32584171	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:123,0,15:138:99:0|1:32584171_G_A:260,630,5795,0,5165,5120:32584171	3	0	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,17,0,0:144:99:0|1:32584171_G_A:332,0,5282,714,5333,6047,714,5333,6047,6047:32584171	9	0	5	1
chr6	32584184	32584184	-	TC	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.294_295insGA:p.Q99Dfs*31,	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.94e-05	0	0	0	0	0.0001	0	0	0.0016905	44	26028	rs28986201	2.344e-06	2.239e-05	4.721e-06	0	3.106e-06	3.9e-07	1.5e-07	5.2e-07	1.9e-07	0	0	0	0	0	0	3.106e-06	0	0	0	3.383e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,17,0,0:144:99:0|1:32584171_G_A:332,0,5282,714,5333,6047,714,5333,6047,6047:32584171	9	0	5	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6470.95	227	chr6	32584185	.	C	CT,*	6470.95	.	AC=6,5;AF=0.150,0.125;AN=40;BaseQRankSum=2.10;DP=4843;ExcessHet=2.2868;FS=2.608;InbreedingCoeff=-0.1376;MLEAC=6,5;MLEAF=0.150,0.125;MQ=53.44;MQRankSum=-6.590e+00;QD=2.58;ReadPosRankSum=-3.178e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,16,0:145:99:0|1:32584171_G_A:284,0,5369,672,5417,6089:32584171	10	0	5	1
chr6	32584243	32584243	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.T236C:p.V79A,	.	.	1	1510	10	1	0	12	0.00395778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.994	D	0.464	N	0.843	N	3.53	H	7.85	T	-0.877	T	0.002	T	0.701	2.176	13.23	3.52	1.609	0.768	6.192	0.151	.	.	0.00299521	0.0024	0	0.0003	0.0001	0	3.193e-05	0	0.0173	0.0019081	295	154602	rs17885908	0.0011	0.0011	0.0006	0.0017	0.0181	0.0011	0.0011	0.0173	0.0170	0	0	0	5.149e-05	0	0.0027	1.15e-05	0.0008	0.0181	0.0005	0.0005	0.0002	0.0008	0.0152	0.0004	0.0003	0.0122	0.0111	2.778e-05	0	0	0	0	0	0	0	0	0.0152	0.001	0.78490	D	0.242	0.24264	T	0.998	0.73220	D	0.994	0.82059	D	0.463962	0.04886	N	1.313330	0.843472	0.28598	N	.	.	.	7.85	0.00333	T	-3.44	0.67477	D	0.343	0.38438	-0.8772	0.49981	T	0.002	0.00585	T	10	0.004941851	0.00106	T	.	.	.	0.151	0.39764	.	.	0.566666267248	0.56331	0.2065833504392533	0.20574	1.87261735177	0.92534	.	.	.	0.017111	0.14019	T	-0.127656	0.31876	T	-0.228154	0.51951	T	0.214614977977204	0.21191	T	0.0505949	0.00359	T	0.6246811	0.74014	0.48314396	0.70076	0.6246811	0.74015	0.48314396	0.70076	-6.68	0.51660	T	.	.	0.280	0.51350	B	.	.	3.231505	0.44070	21.9	0.99203033636509064	0.55351	0.09015	0.14853	N	AEFDGBCI	0.335297	0.43378	N	0.226989612826035	0.52509	3.424761	-0.0167516115762437	0.38958	2.302782	0.999951060784609	0.48110	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	3.52	0.39415	0.617000	0.24053	.	.	0.355000	0.20016	0.002000	0.15269	0.029000	0.21193	0.006000	0.07323	0.775:0.0:0.0:0.225	6.192	0.19742	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4814.98	305	chr6	32584243	.	A	G	4814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.851e+00;DP=7187;ExcessHet=0.0000;FS=2.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.18;MQRankSum=8.81;QD=17.70;ReadPosRankSum=0.878;SOR=0.556	GT:AD:DP:GQ:PL	0/1:82,190:272:99:4829,0,2788	20	0	1	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:238,121,0:359:99:0|1:32584346_G_A:4118,0,9565,4834,9929,14763:32584346	1	9	7	1
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,108,0:336:99:0|1:32584346_G_A:3849,0,9249,4535,9574,14109:32584346	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,98,0:312:99:0|1:32584346_G_A:3452,0,8682,4096,8977,13074:32584346	2	0	3	2
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:204,0,62:266:99:0|1:32641430_C_T:1989,2603,11169,0,8566,8379:32641430	4	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12919.36	215	chr6	32641445	.	A	*,T	12919.36	.	AC=14,10;AF=0.333,0.238;AN=42;BaseQRankSum=3.40;DP=4033;ExcessHet=1.2156;FS=8.537;InbreedingCoeff=0.0278;MLEAC=14,10;MLEAF=0.333,0.238;MQ=56.99;MQRankSum=-8.973e+00;QD=4.08;ReadPosRankSum=-2.307e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,62,0:266:99:0|1:32641430_C_T:1989,0,8379,2603,8566,11169:32641430	4	2	7	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10387.93	236	chr6	32641462	.	G	A,*	10387.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=5.43;DP=4198;ExcessHet=1.2156;FS=3.431;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.72;MQRankSum=-9.839e+00;QD=3.14;ReadPosRankSum=-1.129e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:216,0,60:276:99:0|1:32641430_C_T:1869,2519,11496,0,8977,8796:32641430	4	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10409.93	237	chr6	32641464	.	T	A,*	10409.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=3.55;DP=4202;ExcessHet=1.2156;FS=3.398;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.80;MQRankSum=-9.745e+00;QD=3.15;ReadPosRankSum=-9.480e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:216,0,60:276:99:0|1:32641430_C_T:1869,2519,11496,0,8977,8796:32641430	4	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25415.33	297	chr6	32641501	.	G	C,*,A	25415.33	.	AC=10,13,1;AF=0.238,0.310,0.024;AN=42;BaseQRankSum=2.16;DP=4612;ExcessHet=1.2156;FS=0.551;InbreedingCoeff=0.0278;MLEAC=10,13,1;MLEAF=0.238,0.310,0.024;MQ=58.81;MQRankSum=-6.452e+00;QD=6.79;ReadPosRankSum=1.25;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:233,0,0,66:299:99:0|1:32641476_G_A:2070,2771,12413,2771,12413,12413,0,9641,9641,9443:32641476	4	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V,	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.417	U	1.000	N	0.695	N	5.87	T	-0.920	T	0.000	T	0.292	-0.760	0.789	-7.95	-6.444	-13.284	0.888	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:245,68,0,0:313:99:.:.:2121,0,6786,2855,6991,9846,2855,6991,9846,9846	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:245,68,0,0:313:99:.:.:2121,0,6786,2855,6991,9846,2855,6991,9846,9846	4	0	1	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,44,40:84:99:1|0:32666522_A_ACC:3527,1654,1516,1848,0,1727:32666522	1	1	0	0
chr6	33290759	33290759	G	A	exonic	PFDN6	.	nonsynonymous SNV	PFDN6:NM_001185181:exon4:c.G304A:p.E102K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.242	B	0.105	B	0.000	D	1.000	D	1.955	M	0.96	T	-1.100	T	0.065	T	0.42	4.848	27.6	5.48	2.852	7.734	14.730	0.146	0.00911041460856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.272	0.22223	T	0.242	0.30930	B	0.105	0.31087	B	0.000004	0.62929	D	0.063340	0.999999	0.81001	D	2.69	0.78713	M	0.96	0.42888	T	-3.09	0.63438	D	0.37	0.47672	-1.0999	0.04103	T	0.065	0.26807	T	10	0.27768373	0.45335	T	0.00911	0.23965	T	0.146	0.38789	0.519	0.62066	0.653503008778	0.65061	0.6706943270195986	0.67007	1.77042804158	0.91275	0.699030160904	0.67004	T	0.137674	0.47074	T	-0.0465533	0.44969	T	-0.304647	0.44230	T	0.988594949245453	0.78907	D	.	.	.	0.4822956	0.66040	0.5144262	0.71943	0.4822956	0.66040	0.5144262	0.71943	-7.744	0.59313	D	.	.	0.355	0.57060	A	.;.;.;.	.;.;.;.	4.904231	0.80630	27.4	0.99908110728924993	0.97801	0.93767	0.59133	D	AEFBCI	0.948263	0.95969	D	0.259437622081074	0.54108	3.577192	0.409164941987191	0.62136	4.423968	0.999999999999615	0.74766	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.735409	0.98432	0	.	.	5.48	5.48	0.80675	8.311000	0.89893	11.789000	0.96319	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	14.730	0.68987	653	0.62661	.;.;.;.	.	.	.	.	.	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	0.02381	1977.98	45	chr6	33290759	.	G	A	1977.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=980;ExcessHet=0.0000;FS=2.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.401;SOR=0.551	GT:AD:DP:GQ:PL	0/1:104,81:185:99:1992,0,2620	20	0	1	0
chr6	36225308	36225308	G	A	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon11:c.G3223A:p.E1075K,	.	.	420	1075	26	1	0	28	0.0128558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.953	D	0.000	D	1.000	N	2.17	M	-0.52	T	-0.445	T	0.413	T	0.81	7.645	39	6.04	2.873	6.608	15.993	0.442	.	0.0083	0.00559105	0.0083	0.0012	0.0049	0	0.0091	0.0105	0.0112	0.0103	0.0082987	1283	154602	rs142171063	0.0094	0.0094	0.0091	0.0097	0.0135	0.0092	0.0092	0.0111	0.0102	0.0020	0.0055	0.0052	0.0002	0.0081	0.0135	0.0102	0.0091	0.0093	0.0075	0.0075	0.0074	0.0076	0.0120	0.0071	0.0070	0.0113	0.0110	0.0014	0.0022	0.0078	0.0052	0.0002	0.0064	0.0170	0.0120	0.0081	0.0074	0.005	0.63226	D	0.086	0.43721	T	0.912	0.50421	P	0.498	0.47596	P	0.000089	0.51296	D	0.129355	0.99986	0.81001	D	1.765	0.45800	L	-0.52	0.70717	T	-2.66	0.58248	D	0.903	0.90363	-0.4452	0.70559	T	0.413	0.76048	T	10	0.013104111	0.00279	T	.	.	.	0.442	0.74518	.	.	0.774720261517	0.77264	0.8641290524401819	0.86376	0.567022438611	0.52971	0.75238609314	0.74798	T	0.162972	0.50785	T	-0.129283	0.31612	T	0.0519048	0.73710	D	0.0249159672370973	0.01261	T	0.935306	0.81731	D	0.64164495	0.74919	0.53257245	0.72991	0.64164495	0.74920	0.53257245	0.72991	-8.051	0.61417	D	.	.	0.266	0.50054	B	.;.;.	.;.;.	5.149429	0.86240	28.8	0.99543335025107649	0.70648	0.86249	0.45493	D	AEFDGBHCI	0.883812	0.81302	D	0.734200740686734	0.81876	7.625519	0.765997048586827	0.87348	9.190829	1.0	0.98316	0.722319	0.85440	0	0.653731	0.59785	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.04	6.04	0.98025	5.697000	0.67954	11.918000	0.99752	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1337:0.8663:0.0	15.993	0.80014	567	0.70732	PWWP domain|PWWP domain|BR140-related, PWWD domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3147.68	34	chr6	36225308	.	G	A	3147.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.718;DP=967;ExcessHet=0.3300;FS=6.133;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-3.360e-01;SOR=1.018	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1174,0,1507	18	0	3	0
chr6	36291365	36291365	A	G	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145717:exon2:c.A251G:p.K84R	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.23	B	0.175	B	0.084	U	1.000	N	0.69	N	-1.03	T	-0.990	T	0.142	T	0.147	3.036	16.13	4.1	0.844	5.048	9.160	0.172	0.0249937709916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18889	T	0.115	0.36630	T	0.23	0.30574	B	0.175	0.35598	B	0.084103	0.20715	U	0.331596	1	0.81001	D	1.53	0.38800	L	-1.03	0.76430	T	-1.81	0.42575	N	0.223	0.25006	-0.9904	0.32500	T	0.142	0.46275	T	10	0.18578598	0.34015	T	0.024994	0.47983	T	0.172	0.43662	0.345	0.33950	0.768449596528	0.76632	.	.	0.213063653711	0.23811	0.510883152485	0.40347	T	0.005896	0.05345	T	-0.0814537	0.39477	T	-0.354779	0.38655	T	0.691809058189392	0.40331	D	0.642236	0.25428	T	0.08893341	0.20763	0.1472266	0.34849	0.08893341	0.20763	0.1472266	0.34848	-5.181	0.38748	T	.	.	0.096	0.17146	B	.;.	.;.	2.766790	0.36307	20.2	0.99632889771362543	0.76142	0.95053	0.63266	D	ALL	0.609417	0.59862	D	-0.14403188675947	0.35489	2.039126	0.00882416738919273	0.40123	2.390	0.999999999999999	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.631631	0.49550	0	.	.	5.26	4.1	0.47196	4.497000	0.60088	6.716000	0.56415	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9126:0.0:0.0874:0.0	9.160	0.36180	789	0.46346	Patatin-like phospholipase domain;Patatin-like phospholipase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	865.03	33	chr6	36291365	.	A	G	865.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-9.970e-01;DP=1831;ExcessHet=1.7912;FS=51.070;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.872;SOR=9.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,13:122:32:0|1:36291365_A_G:32,0,4343:36291365	15	0	6	0
chr6	37014659	37014659	G	A	exonic	FGD2	.	nonsynonymous SNV	FGD2:NM_173558:exon7:c.G837A:p.M279I,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.01	B	0.006	B	0.038	N	0.705	D	-0.485	N	-0.02	T	-1.105	T	0.043	T	0.159	1.106	9.511	3.67	1.108	1.806	13.050	0.045	0.00683023650026	.	.	1.649e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs199640627	3.147e-05	3.147e-05	3.404e-05	2.888e-05	0.0002	2.412e-05	2.158e-05	2.828e-05	2.507e-05	0	0	0	0	0	0.0002	3.777e-05	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.12226	T	0.42	0.14116	T	0.01	0.15535	B	0.006	0.12133	B	0.038092	0.24325	N	0.351864	0.705287	0.33463	D	-0.345	0.03330	N	-0.02	0.62918	T	0.08	0.06026	N	0.214	0.23884	-1.1045	0.03588	T	0.043	0.18576	T	10	0.08378634	0.13974	T	0.00683	0.18065	T	0.045	0.12272	0.504	0.59770	0.421674004627	0.41782	0.47075770407440565	0.46994	0.142435112065	0.16065	0.335206389427	0.15719	T	0.009022	0.08238	T	-0.152653	0.27897	T	-0.441566	0.28634	T	0.213636446611375	0.21142	T	0.884811	0.60904	D	0.12005639	0.28258	0.12889674	0.31002	0.12005639	0.28258	0.12889674	0.31002	-3.66	0.18729	T	.	.	0.359	0.57180	A	.	.	2.080352	0.26459	17.12	0.96069886149793882	0.28620	0.96017	0.67157	D	AEFDBI	0.552179	0.56395	D	-0.484827277863987	0.22579	1.206542	-0.271305304408171	0.29048	1.624364	0.997759129858651	0.35989	0.460665	0.09802	0	0.577304	0.33150	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.55	3.67	0.41236	1.194000	0.31783	5.492000	0.48750	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.3091:0.6909:0.0	13.050	0.58357	858	0.34001	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	692.98	36	chr6	37014659	.	G	A	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.970e-01;DP=763;ExcessHet=0.0000;FS=2.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=1.22;SOR=1.071	GT:AD:DP:GQ:PL	0/1:34,29:63:99:707,0,866	20	0	1	0
chr6	41034129	41034129	G	T	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon3:c.C438A:p.D146E,	.	.	408	1089	23	2	0	27	0.0122449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.756	P	0.678	P	0.000	D	1.000	D	1.14	L	1.05	T	-1.092	T	0.065	T	0.494	2.493	14.30	3.91	1.231	1.711	9.162	0.105	.	0.0065	0.00499201	0.0086	0.0022	0.0040	0.0018	0.0055	0.0109	0.0104	0.0114	0.0081629	1262	154602	rs147669667	0.0096	0.0096	0.0094	0.0098	0.0120	0.0095	0.0094	0.0112	0.0110	0.0011	0.0054	0.0030	0.0020	0.0049	0.0120	0.0105	0.0090	0.0118	0.0067	0.0067	0.0067	0.0067	0.0112	0.0063	0.0062	0.0094	0.0091	0.0015	0.0219	0.0064	0.0043	0.0019	0.0048	0.0068	0.0100	0.0128	0.0112	0.28	0.15509	T	0.165	0.30926	T	0.756	0.43409	P	0.678	0.53406	P	0.000043	0.53742	D	0.000000	0.80733	0.29043	N	1.32	0.33002	L	1.05	0.39990	T	-0.68	0.19509	N	0.624	0.63883	-1.0917	0.05254	T	0.065	0.26702	T	10	0.010130048	0.00227	T	.	.	.	0.105	0.29889	0.448	0.50793	0.444505407614	0.44072	0.32841712452372535	0.32754	0.55956992757	0.52493	0.606204330921	0.53781	T	0.009612	0.08738	T	-0.43467	0.01390	T	-0.386762	0.34931	T	0.049045115221159	0.05331	T	0.69513	0.30474	T	0.14271234	0.32830	0.1266743	0.30504	0.14271234	0.32830	0.1266743	0.30503	-6.381	0.49361	T	.	.	0.646	0.74223	P	.;.	.;.	2.804785	0.36903	20.4	0.99652718392113959	0.77380	0.75210	0.36814	D	AEFDBI	0.343576	0.43934	N	0.117645046854027	0.47287	2.956471	0.146321850026763	0.46946	2.932529	0.999932144858726	0.46732	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	3.91	0.44383	1.751000	0.37967	2.856000	0.35172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0996:0.0:0.9004:0.0	9.162	0.36191	454	0.79125	ZU5 domain|ZU5 domain|ZU5 domain;ZU5 domain|ZU5 domain|ZU5 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3281.11	37	chr6	41034129	.	G	T	3281.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.85;DP=952;ExcessHet=0.1072;FS=1.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.231;SOR=0.803	GT:AD:DP:GQ:PL	0/1:77,61:138:99:1582,0,1851	19	0	2	0
chr6	43357259	43357259	G	A	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon3:c.C1055T:p.P352L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.923	D	0.000	D	1.000	D	0.695	N	3.87	T	-0.902	T	0.015	T	0.344	4.396	23.3	5.64	2.663	3.945	17.884	0.184	0.0131082294592	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1425500882	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.923	0.65830	D	0.000083	0.51296	D	0.084454	0.999963	0.52935	D	2.085	0.57729	M	3.87	0.03597	T	-2.4	0.52776	N	0.512	0.54322	-0.9019	0.47792	T	0.015	0.05946	T	10	0.42524853	0.57130	T	0.013108	0.32253	T	0.184	0.45763	0.363	0.36874	0.497806138765	0.49414	0.41345451549878975	0.41261	0.379708804077	0.39358	0.59476685524	0.52166	T	0.118044	0.43858	T	-0.110126	0.34749	T	-0.395965	0.33855	T	0.949710428714752	0.63174	D	0.835117	0.50455	T	0.1610502	0.36088	0.22655374	0.47637	0.1610502	0.36088	0.22655374	0.47636	-3.713	0.19510	T	.	.	0.230	0.46285	B	.	.	4.361364	0.67072	25.0	0.99890877548910073	0.96513	0.90929	0.52529	D	AEFBHCI	0.437905	0.49752	N	0.576734629915458	0.71722	5.694643	0.622246269526078	0.76557	6.513356	0.999999986327125	0.74766	0.719381	0.83141	0	0.697927	0.68747	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	4.814000	0.62318	9.857000	0.82030	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.884	0.88763	222	0.91398	.	.	.	.	.	.	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	0.02381	2166.98	34	chr6	43357259	.	G	A	2166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=887;ExcessHet=0.0000;FS=0.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=1.10;SOR=0.740	GT:AD:DP:GQ:PL	0/1:101,82:183:99:2181,0,2716	20	0	1	0
chr6	43369254	43369254	G	C	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon1:c.C112G:p.R38G,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.351	B	0.023	B	.	.	0.923	N	0.55	N	4.19	T	-0.895	T	0.002	T	0.261	1.368	10.50	1.96	0.505	0.945	7.043	0.020	0.701909178479	.	0.000199681	0.0023	0	.	0	.	0	0	0.0028	0.0002846	44	154602	rs535382812	0.0049	0.0042	0.0049	0.0049	0.0050	0.0048	0.0047	0.0049	0.0049	0.0006	0.0009	0.0012	0	0.0218	0.0003	0.0050	0.0034	0.0015	0.0040	0.0040	0.0031	0.0049	0.0041	0.0037	0.0036	0.0037	0.0035	0.0005	0	0.0007	0.0012	0	0.0277	0.0034	0.0041	0.0038	0.0017	0.013	0.53900	D	0.613	0.07617	T	0.351	0.33667	B	0.023	0.19966	B	.	.	.	.	0.923464	0.27237	N	0.895	0.22405	L	4.19	0.02716	T	0.32	0.03955	N	0.269	0.30461	-0.8954	0.48446	T	0.002	0.00707	T	9	0.0040543973	0.00079	T	0.701909	0.97562	D	0.020	0.03691	.	.	0.12205267543	0.11705	0.30220818813039835	0.30133	0.0794955650032	0.08942	0.886402606964	0.94805	D	0.012493	0.10973	T	-0.526165	0.00405	T	-0.528309	0.19456	T	0.135818778229718	0.15910	T	0.458554	0.13215	T	0.113286674	0.26757	0.20436041	0.44557	0.113286674	0.26757	0.20436041	0.44556	-5.332	0.40259	T	.	.	0.193	0.41357	B	.	.	3.531200	0.49542	22.8	0.88211510470192345	0.17801	0.34168	0.25003	N	AEFDBHCIJ	0.092393	0.18706	N	-0.469136645120474	0.23096	1.237899	-0.411232128573418	0.24668	1.352094	0.999999338538378	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.87	1.96	0.25203	1.032000	0.29786	6.493000	0.55764	0.407000	0.20612	0.882000	0.31029	1.000000	0.68203	0.647000	0.32611	0.0:0.0:0.7292:0.2708	7.043	0.24210	268	0.89479	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	350.98	33	chr6	43369254	.	G	C	350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=711;ExcessHet=0.0000;FS=5.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=0.854;SOR=2.115	GT:AD:DP:GQ:PL	0/1:17,14:31:99:365,0,389	20	0	1	0
chr6	43507540	43507540	C	T	exonic	LRRC73	.	nonsynonymous SNV	LRRC73:NM_001012974:exon5:c.G796A:p.G266R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.001	B	0.095	N	0.705	D	0.41	N	1.33	T	-1.079	T	0.026	T	0.26	1.641	11.45	4.94	2.735	1.294	13.863	0.049	0.00246818291918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.08865	T	0.507	0.10930	T	0.0	0.02946	B	0.001	0.04355	B	0.095125	0.20138	N	0.516357	0.704575	0.33456	D	1.155	0.29575	L	1.33	0.35031	T	0.55	0.02721	N	0.238	0.26837	-1.0794	0.07465	T	0.026	0.10998	T	10	0.081956774	0.13475	T	0.002468	0.04896	T	0.049	0.13647	0.311	0.28451	0.043077524339	0.03247	0.5193416520113022	0.51857	0.887394481255	0.70061	0.440892457962	0.30698	T	0.005061	0.04495	T	-0.204679	0.20134	T	-0.531783	0.19109	T	0.247302040457726	0.22752	T	0.820618	0.47957	T	0.1632679	0.36457	0.15897736	0.37099	0.1632679	0.36457	0.15897736	0.37098	-5.002	0.36861	T	.	.	0.109	0.20702	B	.	.	2.662476	0.34688	19.70	0.93425050555343714	0.23195	0.80672	0.40250	D	AEFBCI	0.697042	0.65518	D	-0.245743448807245	0.31274	1.751958	-0.0278485882874389	0.38462	2.266388	0.999999672572003	0.74766	0.582742	0.33608	0	0.514364	0.08380	0	0.61531	0.40942	0	0.691587	0.68394	0	.	.	4.94	4.94	0.64645	1.583000	0.36188	5.755000	0.49649	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.863	0.63069	224	0.91330	.	.	.	.	.	.	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	0.02381	1243.98	34	chr6	43507540	.	C	T	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=0.665;SOR=0.716	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1258,0,973	20	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.956	P	0.785	P	0.000	D	0.992	D	0.93	L	-0.64	T	-0.812	T	0.190	T	0.424	2.585	14.60	4.45	1.216	0.876	8.891	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3889	1304.96	82	chr6	44229406	.	C	T	1304.96	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.959e+00;DP=2294;ExcessHet=14.4320;FS=177.510;InbreedingCoeff=-0.6006;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.16;SOR=12.393	GT:AD:DP:GQ:PL	0/1:81,32:113:59:59,0,1290	4	0	14	3
chr6	46692984	46692984	C	T	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.C4856T:p.A1619V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.584	P	0.186	B	0.463	N	1.000	N	0.53	N	2.92	T	-0.927	T	0.005	T	0.091	1.802	11.99	-0.713	-0.348	-0.033	6.806	0.078	0.00771466727935	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481894613	4.109e-06	4.104e-06	4.087e-06	4.131e-06	0.0003	1.48e-06	9.7e-07	6.103e-05	2.525e-05	0	2.243e-05	0	0	0	0.0003	2.7e-06	0	0	1.315e-05	1.314e-05	1.285e-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	0.28	0.15561	T	0.244	0.24264	T	0.584	0.38894	P	0.186	0.36104	B	0.463120	0.12367	N	0.777702	1	0.08975	N	0.6	0.15550	N	2.92	0.09915	T	-0.79	0.21860	N	0.072	0.05929	-0.9272	0.44545	T	0.005	0.01833	T	10	0.057795346	0.06694	T	0.007715	0.20457	T	0.078	0.22779	0.511	0.60846	0.0401082797425	0.02173	0.23356050399011594	0.23271	0.0307955421542	0.03189	0.239072114229	0.02707	T	0.029406	0.21077	T	-0.362627	0.03983	T	-0.758665	0.03160	T	0.140900952186794	0.16353	T	0.728227	0.34274	T	0.03804051	0.04993	0.048212837	0.07112	0.03804051	0.04992	0.048212837	0.07112	-3.631	0.19052	T	.	.	0.091	0.12938	B	.;.	.;.	0.950055	0.13263	9.762	0.97569913491160642	0.34675	0.08759	0.14641	N	AEFBI	0.151563	0.27607	N	-0.747690260010937	0.14696	0.7342593	-0.716180290994406	0.16559	0.8765038	1.24221739813442E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.87	-0.713	0.10657	-0.019000	0.12487	0.438000	0.18395	-0.233000	0.07663	0.000000	0.06391	0.025000	0.21018	0.941000	0.48210	0.3515:0.387:0.2615:0.0	6.806	0.22963	553	0.71930	.;Tudor domain|Tudor domain|Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1644.98	52	chr6	46692984	.	C	T	1644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.019e+00;DP=1274;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=1.46;SOR=0.593	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1659,0,1634	20	0	1	0
chr6	52283310	52283310	C	T	exonic	MCM3	.	nonsynonymous SNV	MCM3:NM_001366369:exon2:c.G175A:p.E59K	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.667	P	0.107	B	0.282	N	1.000	D	1.495	L	2.76	T	-0.968	T	0.012	T	0.81	3.202	16.72	4.9	2.536	7.237	18.252	0.192	0.0129547085762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475520607	4.105e-06	4.104e-06	4.084e-06	4.125e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	2.987e-05	0	0	0	0	0.0002	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.05293	T	0.717	0.06812	T	0.667	0.41107	P	0.107	0.31211	B	0.282459	0.14920	N	0.687859	1	0.81001	D	2.455	0.71248	M	2.76	0.11515	T	-0.7	0.19933	N	0.777	0.77507	-0.9684	0.37530	T	0.012	0.04558	T	10	0.61005783	0.67393	D	0.012955	0.31963	T	0.192	0.47115	0.387	0.40788	0.344017737713	0.34012	0.6095289416604722	0.60884	0.217516937017	0.24271	.	.	.	0.040717	0.25618	T	0.0366537	0.56605	T	-0.16964	0.57476	T	0.933490395545959	0.60027	D	0.966703	0.89432	D	0.44965413	0.64019	0.25814763	0.51543	0.44965413	0.64019	0.25814763	0.51542	-6.849	0.53417	T	.	.	0.217	0.44745	B	.;.;.	.;.;.	4.705764	0.75548	26.4	0.99592321772372094	0.73690	0.97841	0.77530	D	AEFDBCI	0.910060	0.86750	D	0.222647734521043	0.52298	3.404859	0.339728393298451	0.57890	3.956752	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.9	4.9	0.63643	7.285000	0.78021	4.764000	0.44733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.252	0.89945	594	0.68584	MCM N-terminal domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1760.98	43	chr6	52283310	.	C	T	1760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=913;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=1.32;SOR=0.616	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1775,0,1709	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:25,7,6:40:65:82,0,587,65,418,654	6	0	12	1
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,19,0:40:99:0|1:80007990_G_C:598,0,807,661,862,1524:80007990	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,20,0:41:99:0|1:80007990_G_C:605,668,1531,0,862,805,668,1531,862,1531:80007990	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,20,0:41:99:0|1:80007990_G_C:605,668,1531,0,862,805,668,1531,862,1531:80007990	8	0	5	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,20,0:41:99:0|1:80007990_G_C:605,0,805,668,862,1531:80007990	2	0	13	4
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	144.91	42	chr6	80007993	.	T	*,C	144.91	.	AC=10,2;AF=0.385,0.077;AN=26;BaseQRankSum=0.236;DP=945;ExcessHet=22.5857;FS=237.638;InbreedingCoeff=-0.4416;MLEAC=14,3;MLEAF=0.538,0.115;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.301;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,20,0:41:99:0|1:80007990_G_C:605,0,805,668,862,1531:80007990	1	0	10	8
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,20,0,0:41:99:0|1:80007990_G_C:605,0,805,668,862,1531,668,862,1531,1531:80007990	1	0	7	8
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,20,0,0:41:99:0|1:80007990_G_C:605,0,805,668,862,1531,668,862,1531,1531:80007990	1	0	7	8
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,20,0,0:41:99:0|1:80007990_G_C:605,0,805,668,862,1531,668,862,1531,1531:80007990	1	0	7	8
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,20,0:40:99:0|1:80007990_G_C:608,0,782,668,840,1508:80007990	4	0	4	10
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,20,0:40:99:0|1:80007990_G_C:608,0,782,668,840,1508:80007990	4	0	4	10
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,22,0,0:22:61:943,61,0,948,66,952,948,66,952,952	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,22,0,0:22:61:943,61,0,948,66,952,948,66,952,952	3	8	1	0
chr6	89781454	89781454	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon10:c.G1588A:p.E530K,	.	.	426	1081	15	0	0	15	0.00689022	.	.	3211660	MDN1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.9	T	0.842	P	0.191	B	0.000	D	0.993	D	0.805	L	4.05	T	-1.048	T	0.009	T	0.606	1.154	9.699	4.71	1.466	2.901	9.367	0.158	.	.	0.00738818	0.0041	0.0002	0.0002	0	0	0.0002	0.0044	0.0288	0.0036028	557	154602	rs541485676	0.0017	0.0017	0.0009	0.0025	0.0259	0.0017	0.0016	0.0250	0.0246	0	0.0003	3.826e-05	2.519e-05	0	0.0035	0.0001	0.0015	0.0259	0.0009	0.0009	0.0004	0.0015	0.0277	0.0008	0.0008	0.0239	0.0225	0	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0277	0.583	0.05936	T	0.845	0.03558	T	0.294	0.32391	B	0.191	0.36391	B	0.000052	0.53742	D	0.165787	0.993363	0.41917	D	2.885	0.83555	M	4.05	0.16794	T	-0.92	0.39119	N	0.591	0.61087	-1.0477	0.15045	T	0.009	0.03011	T	10	0.004194349	0.00083	T	.	.	.	0.158	0.41098	.	.	0.401208672323	0.39738	0.36181159390552403	0.36095	0.195003835191	0.21838	0.420248866081	0.27869	T	0.006624	0.06047	T	-0.428569	0.01512	T	-0.367436	0.37190	T	0.070458642551729	0.08715	T	0.856014	0.54441	D	0.08783694	0.20468	0.102219954	0.24493	0.08783694	0.20468	0.102219954	0.24493	-4.158	0.26141	T	.	.	0.077	0.08224	B	.;.;.	.;.;.	2.891625	0.38301	20.7	0.98014480548616889	0.37582	0.84961	0.44058	D	AEFBCI	0.135125	0.25537	N	-0.262637099284151	0.30601	1.707877	-0.160471697672017	0.33007	1.883656	0.829261178074684	0.24663	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.59	4.71	0.59010	2.554000	0.45507	3.717000	0.39574	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.339000	0.25409	0.0:0.779:0.1458:0.0752	9.367	0.37390	632	0.64850	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4036.11	33	chr6	89781454	.	C	T	4036.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.370e-01;DP=1037;ExcessHet=0.1072;FS=3.310;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=1.14;SOR=0.712	GT:AD:DP:GQ:PL	0/1:77,71:148:99:1619,0,1833	19	0	2	0
chr6	116647521	116647521	T	C	exonic	ZUP1	.	nonsynonymous SNV	ZUP1:NM_001361191:exon7:c.A818G:p.E273G	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.004	B	0.004	B	0.144	N	1.000	D	-0.03	N	1.48	T	-1.034	T	0.016	T	0.086	0.766	8.051	4.15	1.994	0.772	9.715	0.137	0.0112721501329	0.0009	0.000399361	0.0010	0	0.0005	0	0	0.0017	0.0022	0.0001	0.0009767	151	154602	rs145019610	0.0008	0.0008	0.0008	0.0008	0.0012	0.0008	0.0008	0.0006	0.0004	5.991e-05	0.0006	0.0221	0	1.895e-05	0.0012	0.0004	0.0021	5.906e-05	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0008	0.0008	0.0007	2.406e-05	0	0.0012	0.0265	0	9.422e-05	0	0.0006	0.0014	0.0002	0.183	0.21718	T	0.309	0.19782	T	0.004	0.12183	B	0.004	0.10090	B	0.143679	0.18203	N	0.590360	0.68812	0.33299	D	.	.	.	1.48	0.31731	T	0.08	0.06026	N	0.199	0.21969	-1.0342	0.19109	T	0.016	0.06664	T	10	0.0035780668	0.00065	T	0.011272	0.28723	T	0.137	0.36984	.	.	0.238096912614	0.23440	0.3370921876838863	0.33622	0.392253626547	0.40409	0.389418780804	0.23587	T	0.001211	0.00709	T	-0.539341	0.00338	T	-0.630534	0.10374	T	0.0347988766970412	0.02775	T	0.582242	0.21111	T	0.13868183	0.32064	0.06918779	0.14545	0.13868183	0.32064	0.06918779	0.14544	-5.078	0.37674	T	.	.	0.076	0.06114	B	.	.	2.127782	0.27087	17.34	0.96888735901079237	0.31488	0.75199	0.36808	D	AEFBI	0.185689	0.31301	N	-0.467145087098508	0.23162	1.24193	-0.259166875711531	0.29457	1.650484	0.957874029027005	0.28329	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.28	4.15	0.47978	1.098000	0.30612	3.260000	0.37085	0.609000	0.47794	0.977000	0.34929	1.000000	0.68203	0.834000	0.39329	0.0:0.114:0.0:0.886	9.715	0.39436	508	0.75398	.	.	.	.	.	.	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	0.02381	978.98	42	chr6	116647521	.	T	C	978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.132e+00;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.964;SOR=0.722	GT:AD:DP:GQ:PL	0/1:34,41:75:99:993,0,814	20	0	1	0
chr6	131884955	131884955	C	A	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon23:c.C2336A:p.T779N,	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	1	1511	10	0	0	10	0.00329815	.	.	428520	Arterial_calcification,_generalized,_of_infancy,_1|Hypophosphatemic_rickets,_autosomal_recessive,_2|not_specified|ENPP1-related_disorder|not_provided	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.91	P	0.689	P	0.433	N	1.000	N	2.42	M	-0.31	T	-0.883	T	0.211	T	0.237	2.742	15.13	1.7	0.842	0.237	4.462	0.185	0.0245535435166	0.0002	0.00139776	0.0010	9.614e-05	0.0003	0	0	0.0002	0.0022	0.0058	0.0008279	128	154602	rs200239821	0.0005	0.0005	0.0004	0.0007	0.0061	0.0005	0.0005	0.0057	0.0055	2.987e-05	0.0003	0.0002	2.52e-05	0	0.0026	0.0002	0.0006	0.0061	0.0004	0.0004	0.0003	0.0005	0.0050	0.0003	0.0003	0.0034	0.0029	2.406e-05	0	0.0003	0.0003	0	0	0	0.0004	0	0.0050	0.145	0.25154	T	0.613	0.07617	T	0.91	0.50240	P	0.689	0.53736	P	0.433422	0.12719	N	0.762914	1	0.08975	N	2.65	0.77586	M	-0.31	0.68030	T	-2.74	0.58248	D	0.411	0.45142	-0.8833	0.49497	T	0.211	0.57094	T	10	0.012332797	0.00265	T	0.024554	0.47547	T	0.185	0.45933	.	.	0.733563502752	0.73118	0.6520419703673228	0.65140	0.472247107215	0.46463	0.347620487213	0.17572	T	0.318532	0.68989	T	-0.407891	0.02053	T	-0.355933	0.38523	T	0.0838672315043058	0.10474	T	0.80472	0.45238	T	0.10048092	0.23725	0.11755571	0.28378	0.105115004	0.24851	0.11144083	0.26880	-7.702	0.59022	D	0.1819362267335076	0.23485	0.070	0.03301	B	.;.	.;.	2.378295	0.30526	18.46	0.9847300759697758	0.41884	0.12669	0.17409	N	AEFBI	0.122179	0.23721	N	0.123710445788398	0.47572	2.980933	0.0283881060863032	0.41039	2.458924	0.00348457779299174	0.10140	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.91	1.7	0.23359	0.161000	0.16298	-0.042000	0.12656	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.984000	0.60418	0.1511:0.484:0.0:0.3649	4.462	0.11090	824	0.40336	DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease;DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1077.98	34	chr6	131884955	.	C	A	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=777;ExcessHet=0.0000;FS=4.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.516;SOR=1.154	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1092,0,1066	20	0	1	0
chr6	135318527	135318527	G	A	exonic	AHI1	.	nonsynonymous SNV	AHI1:NM_001134830:exon24:c.C3418T:p.P1140S	Joubert syndrome-3, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	212518	not_specified|not_provided|Joubert_syndrome_3|Intellectual_disability|Familial_aplasia_of_the_vermis	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629,Orphanet:220493|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:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.0	B	0.279	N	0.998	N	0	N	0.5	T	-1.094	T	0.033	T	0.213	-1.094	0.149	-7.2	-1.534	-0.747	10.319	0.120	0.00650288920072	0.0004	0.000599042	0.0006	0	0.0004	0	0	0.0012	0.0023	0.0001	0.000414	64	154602	rs201148693	0.0006	0.0006	0.0006	0.0006	0.0045	0.0006	0.0006	0.0032	0.0027	0.0002	0.0003	3.915e-05	0	0	0.0045	0.0007	0.0008	0.0002	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0003	9.628e-05	0	0.0004	0	0	0	0.0034	0.0005	0.0005	0.0006	0.479	0.08261	T	0.63	0.07196	T	0.0	0.02946	B	0.0	0.01387	B	0.279159	0.03822	N	1.510780	1	0.08975	N	0.205	0.09354	N	0.5	0.55608	T	-0.83	0.22727	N	0.082	0.05929	-1.0939	0.04914	T	0.033	0.13986	T	10	0.0077154934	0.00175	T	0.006503	0.17129	T	0.120	0.33359	.	.	0.141422826196	0.13715	0.258895103634333	0.25803	0.0419560013884	0.04514	0.256762444973	0.04513	T	0.092154	0.38945	T	-0.543651	0.00318	T	-0.55986	0.16390	T	0.00786599189586697	0.00092	T	0.492651	0.15191	T	0.017409606	0.00270	0.033326175	0.02208	0.019890152	0.00530	0.033309903	0.02205	-3.032	0.10530	T	.	.	0.064	0.01622	B	.;.;.	.;.;.	-0.133289	0.03447	0.635	0.28779562652994067	0.01494	0.11183	0.16464	N	AEFDBCI	0.043903	0.06998	N	-1.50319662682461	0.01829	0.08017732	-1.5158115935974	0.02222	0.1018837	0.999987440767777	0.51787	0.638212	0.43195	0	0.588066	0.40923	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.22	-7.2	0.01345	-0.597000	0.05809	-0.025000	0.12872	-0.127000	0.13314	0.835000	0.30208	0.045000	0.21693	0.055000	0.15596	0.7279:0.0:0.167:0.1052	10.319	0.42935	434	0.80536	.;.;.	.	.	.	.	.	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	0.02381	1959.98	45	chr6	135318527	.	G	A	1959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=-1.250e-01;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,56:128:99:0|1:135318506_C_T:1974,0,2613:135318506	20	0	1	0
chr6	152136623	152136623	A	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_001347702:exon13:c.T2188C:p.C730R	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	5	1516	1	0	0	1	0.000329707	.	.	1295579	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.675	M	1.39	T	-0.630	T	0.209	T	0.981	4.538	24.5	6.02	2.299	9.339	16.549	0.610	0.111538518083	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1432731171	2.738e-06	2.736e-06	0	5.504e-06	0.0004	6.4e-07	4.3e-07	6.936e-05	2.897e-05	0	0	0	0	0	0.0004	0	1.658e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.997	0.86255	D	0.000021	0.55875	D	0.000000	1	0.81001	D	3.27	0.90083	M	1.39	0.47130	T	-11.49	0.99555	D	0.889	0.95956	-0.6298	0.63579	T	0.209	0.56879	T	10	0.8717097	0.86440	D	0.111539	0.78935	D	0.610	0.84719	0.627	0.76254	0.825321971945	0.82367	0.6509368448516423	0.65029	0.807392402312	0.66551	0.870665192604	0.92663	D	0.713972	0.91863	D	0.24965	0.78567	D	0.217683	0.84056	D	0.999461829662323	0.97510	D	0.928407	0.76057	D	0.9925216	0.99882	0.9701166	0.99470	0.9925216	0.99882	0.9701166	0.99471	-13.344	0.90731	D	.	.	0.938	0.86363	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.211098	0.63621	24.6	0.99795097567878532	0.88017	0.94192	0.60392	D	AEFDGBHCI	0.949368	0.96194	D	0.922485262082298	0.92816	11.64692	0.897547778619571	0.95465	13.64764	1.0	0.98316	0.69289	0.55638	0	0.636889	0.57051	0	0.602189	0.34648	0	0.765956	0.99894	0	.	.	6.02	6.02	0.97559	9.325000	0.96006	11.059000	0.85411	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	16.549	0.84312	841	0.37094	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3823.98	34	chr6	152136623	.	A	G	3823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.590e-01;DP=1058;ExcessHet=0.0000;FS=2.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.871;SOR=0.858	GT:AD:DP:GQ:PL	0/1:170,160:330:99:3838,0,4343	20	0	1	0
chr6	158033543	158033543	C	T	exonic	SYNJ2	.	nonsynonymous SNV	SYNJ2:NM_003898:exon4:c.C574T:p.R192C,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.75	M	0.25	T	-0.212	T	0.397	T	0.963	2.992	15.98	5.18	2.707	5.605	18.890	0.523	0.0223118399378	0.0002	.	2.475e-05	0	0	0	0	4.505e-05	0	0	2.59e-05	4	154602	rs200842364	5.199e-05	5.199e-05	5.99e-05	4.4e-05	0.0002	4.258e-05	3.888e-05	4.813e-05	4.423e-05	0	0	0	0	0	0.0002	6.025e-05	0.0001	1.159e-05	8.539e-05	8.536e-05	6.421e-05	0.0001	0.0002	4.956e-05	3.961e-05	9.045e-05	7.01e-05	4.824e-05	0	0	0	0	0	0	0.0002	0	0	0.089	0.32141	T	0.037	0.51737	D	1.0	0.90584	D	0.999	0.92359	D	0.000009	0.62929	D	0.000000	1	0.81001	D	1.82	0.47800	L	0.25	0.59449	T	-7.14	0.94073	D	0.857	0.85343	-0.2121	0.77359	T	0.397	0.74937	T	10	0.82197756	0.81396	D	0.022312	0.45185	T	0.523	0.79765	.	.	0.818191589246	0.81648	0.5656272831514451	0.56489	0.352284646822	0.37065	0.652710139751	0.60371	T	0.743375	0.92911	D	0.201658	0.74047	D	0.159549	0.80779	D	0.680972462872584	0.39832	D	0.957504	0.89491	D	0.43522254	0.63093	0.31723073	0.57699	0.43522254	0.63094	0.31723073	0.57698	-7.372	0.56707	T	.	.	0.201	0.42520	B	.;.	.;.	5.386420	0.90253	31	0.99924374347337108	0.98980	0.96413	0.69016	D	AEFDBI	0.686643	0.64825	D	0.715857996583858	0.80673	7.346448	0.630142552121096	0.77141	6.62223	1.0	0.98316	0.706548	0.73137	0	0.546412	0.12157	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	4.715000	0.61600	5.846000	0.50293	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.459000	0.28096	0.0:1.0:0.0:0.0	18.890	0.92370	970	0.06235	SAC domain|SAC 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	0.02381	2145.98	34	chr6	158033543	.	C	T	2145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=879;ExcessHet=0.0000;FS=1.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.889;SOR=0.855	GT:AD:DP:GQ:PL	0/1:94,84:178:99:2160,0,2265	20	0	1	0
chr6	159246969	159246969	G	C	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon15:c.G4690C:p.D1564H,	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.979	D	0.003	N	1.000	D	1.935	M	3.72	T	-0.653	T	0.275	T	0.54	3.265	16.95	5.54	2.588	5.711	17.237	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0018	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0	0.0002	5.061e-05	1.875e-05	0	0.0003	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.979	0.74454	D	0.002848	0.35836	N	0.234303	0.999957	0.54805	D	2.43	0.70455	M	2.92	0.09915	T	-3.39	0.66896	D	0.55	0.57604	-0.6531	0.62579	T	0.275	0.64629	T	9	0.5588635	0.64674	D	0.033427	0.54974	D	0.155	0.40530	0.211	0.12923	0.716368476681	0.71387	0.5440392449143501	0.54329	0.742978454595	0.63363	0.448153674603	0.31691	T	0.069527	0.33731	T	-0.0790741	0.39866	T	-0.351361	0.39050	T	0.992298901081085	0.82739	D	0.823318	0.48387	T	0.50443697	0.67354	0.484389	0.70152	0.50443697	0.67355	0.484389	0.70153	-9.52	0.70983	D	.	.	0.559	0.67191	A	.	.	6.143375	0.94659	34	0.99444621568533897	0.64971	0.96803	0.71023	D	AEFBI	0.833431	0.75164	D	0.664050852397009	0.77282	6.644672	0.620074757088017	0.76401	6.483862	0.97955389799973	0.30040	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	5.922000	0.69759	11.627000	0.93669	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.590000	0.31140	0.0:0.0:1.0:0.0	17.237	0.86884	816	0.41767	.	.	.	.	.	.	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	0.1	429.76	74	chr6	159246969	.	G	C	429.76	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-2.628e+00;DP=1339;ExcessHet=0.6776;FS=353.850;InbreedingCoeff=-0.1265;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.12;ReadPosRankSum=1.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,23:107:95:0|1:159246969_G_C:95,0,2250:159246969	16	0	4	1
chr6	159246970	159246970	G	C	splicing	FNDC1	NM_032532:exon15:c.4690+1G>C	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.523	14.40	5.54	2.588	5.711	17.237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0099	0.0038	0.0033	0.0043	0.0035	0.0035	0.0042	0.0041	0.0035	0.0001	0.0012	0.0009	0.0008	0.0018	0.0043	0.0031	0.0013	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244542	0.78088	D	0.113491	0.77803	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.933500	0.81364	27.5	0.99449484633040008	0.65223	0.96789	0.70947	D	AEFBI	.	.	.	1.01751420525002	0.96260	14.48223	0.835805092306312	0.92159	11.26917	0.97955389799973	0.30040	0.061011	0.01085	0	0.059962	0.00310	0	0.063197	0.01477	0	0.057018	0.00518	0	0.973979	0.76545	5.54	5.54	0.82907	5.922000	0.69759	11.627000	0.93669	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.523000	0.29544	0.0:0.0:1.0:0.0	17.237	0.86884	816	0.41767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	384.68	36	chr6	159246970	.	G	C	384.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.641e+00;DP=989;ExcessHet=0.3300;FS=258.507;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.45;ReadPosRankSum=0.816;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,23:107:95:0|1:159246969_G_C:95,0,2250:159246969	18	0	3	0
chr6	166451198	166451198	G	A	exonic	RPS6KA2	.	nonsynonymous SNV	RPS6KA2:NM_001318937:exon11:c.C817T:p.H273Y	.	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.094	B	0.068	B	0.012	N	1.000	D	0	N	0.38	T	-1.060	T	0.043	T	0.256	0.955	8.897	2.48	1.084	3.919	12.306	0.119	0.00806985491356	0.0032	0.000599042	0.0026	0.0008	0.0004	0	0.0003	0.0042	0.0011	0.0012	0.0025161	389	154602	rs61733655	0.0031	0.0031	0.0030	0.0032	0.0061	0.0030	0.0030	0.0045	0.0039	0.0004	0.0007	0.0117	0	0.0003	0.0061	0.0034	0.0031	0.0011	0.0018	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0006	0.0022	0.0006	0.0104	0	0.0003	0.0034	0.0029	0.0009	0.0010	0.061	0.49613	T	0.005	0.74150	D	0.094	0.25382	B	0.068	0.27651	B	0.012171	0.29266	N	0.353676	0.976511	0.39283	D	0.345	0.11182	N	0.38	0.57575	T	-1.75	0.42763	N	0.194	0.25253	-1.0604	0.11656	T	0.043	0.18659	T	10	0.009828061	0.00221	T	0.00807	0.21393	T	0.119	0.33137	.	.	0.578844998551	0.57554	0.18863790229908248	0.18781	0.626576871202	0.56787	0.630037069321	0.57151	T	0.091962	0.38904	T	-0.424184	0.01609	T	-0.383244	0.35343	T	0.0197422442216638	0.00676	T	0.941906	0.78638	D	0.06875783	0.15006	0.12741864	0.30671	0.06875783	0.15006	0.12741864	0.30670	-10.449	0.76554	D	.	.	0.108	0.20469	B	.;.;.;.;.	.;.;.;.;.	3.600819	0.50864	23.0	0.96554860504224183	0.30236	0.95933	0.66783	D	AEFDBI	0.618835	0.60449	D	-0.754001780490029	0.14525	0.7242442	-0.685068007799395	0.17334	0.9212374	0.959294423193649	0.28417	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.36	2.48	0.29194	4.239000	0.58490	8.249000	0.76860	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.146000	0.20164	0.0:0.0:0.6939:0.306	12.306	0.54224	994	0.00715	Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal;Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal;.;Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal;Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, 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	0.02381	1554.98	33	chr6	166451198	.	G	A	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e-01;DP=856;ExcessHet=0.0000;FS=0.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-5.590e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/1:73,64:137:99:1569,0,1838	20	0	1	0
chr6	167315412	167315412	T	C	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon7:c.T1208C:p.V403A	.	.	413	1039	70	0	0	70	0.0325885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.0	B	0.029	N	1.000	N	-0.69	N	3.65	T	-0.932	T	0.001	T	0.026	-0.444	1.940	-3.95	-0.778	-0.774	0.201	0.047	0.00171249185324	.	.	0.0023	0.0020	0.0004	0.0024	0.0026	0.0029	0.0077	0.0012	7.68e-05	2	26028	rs752323292	0.0005	0.0067	0.0005	0.0005	0.0041	0.0004	0.0004	0.0036	0.0034	0.0001	2.266e-05	7.901e-05	0.0041	0.0010	0.0014	0.0003	0.0008	0.0006	0.0006	0.0063	0.0006	0.0007	0.0017	0.0005	0.0005	0.0008	0.0006	0.0004	0	0.0004	0	0.0017	0.0011	0	0.0007	0.0005	0.0014	0.755	0.03533	T	0.788	0.04220	T	0.0	0.02946	B	0.0	0.01387	B	0.029466	0.01703	N	2.657010	1	0.08975	N	-0.895	0.01383	N	3.61	0.04446	T	0.85	0.01736	N	0.022	0.00666	-0.9323	0.43799	T	0.001	0.00438	T	10	0.006008148	0.00135	T	0.001712	0.02856	T	0.047	0.12962	.	.	0.0138822411134	0.00435	0.13178615577524272	0.13103	0.284254945411	0.30848	0.244545891881	0.03215	T	0.001207	0.00701	T	-0.446715	0.01181	T	-0.879451	0.00658	T	0.00895254053920366	0.00112	T	0.0821918	0.00603	T	0.016546153	0.00205	0.036088627	0.02986	0.016546153	0.00205	0.036088627	0.02986	-3.06	0.12914	T	.	.	0.058	0.02578	B	.;.	.;.	-0.244935	0.02869	0.407	0.4228581334093004	0.03107	0.00142	0.00866	N	AEFDGBI	0.051140	0.09005	N	-1.66025916697445	0.00992	0.04303088	-1.6744461208731	0.01255	0.05655026	0.812093583063515	0.24374	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.86	-3.95	0.03844	-0.367000	0.07607	-3.275000	0.02915	-0.423000	0.05224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3648:0.155:0.2022:0.2779	0.201	0.00135	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	0.04762	277.11	83	chr6	167315412	.	T	C	277.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.15;DP=1145;ExcessHet=0.1072;FS=4.825;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.65;MQRankSum=-6.308e+00;QD=1.56;ReadPosRankSum=0.143;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,10:91:99:0|1:167315412_T_C:156,0,3353:167315412	19	0	2	0
chr6	167976259	167976342	CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.311_394del:p.V104_T131del,	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0028	0.0077	0	0	0.0053	0	0.0037	.	.	.	.	0.0001	0.0003	0.0001	0.0001	0.0030	9.78e-05	9.099e-05	0.0017	0.0013	0.0002	0	0	0.0003	0.0002	0.0030	0.0001	0.0001	8.545e-05	0.0002	0.0008	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0001	2.975e-05	0	0.0003	0.0010	0.0003	0.0003	0.0050	0.0003	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,18:55:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:609,720,2177,0,1457,1396:167976249	14	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,18:55:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:609,720,2177,0,1457,1396:167976249	14	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,18,0:55:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:609,0,1396,720,1457,2177:167976249	7	3	4	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	711.4	88	chr6	167976287	.	T	G,*	711.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=0.231;DP=1079;ExcessHet=0.2410;FS=14.973;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=55.12;MQRankSum=2.13;QD=1.96;ReadPosRankSum=-5.620e-01;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,18:55:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:609,720,2177,0,1457,1396:167976249	12	0	2	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	677.4	88	chr6	167976288	.	T	G,*	677.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=1.98;DP=1079;ExcessHet=0.2410;FS=14.840;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=54.99;MQRankSum=2.13;QD=1.88;ReadPosRankSum=-6.700e-01;SOR=1.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,18:55:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:609,720,2177,0,1457,1396:167976249	12	0	2	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	8324.06	88	chr6	167976329	.	T	G,*	8324.06	.	AC=9,1;AF=0.281,0.031;AN=32;BaseQRankSum=2.86;DP=1186;ExcessHet=0.0120;FS=13.202;InbreedingCoeff=0.2945;MLEAC=11,1;MLEAF=0.344,0.031;MQ=51.60;MQRankSum=0.844;QD=22.68;ReadPosRankSum=0.073;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,29,0:66:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1081,0,1430,1192,1518,2710:167976249	9	3	3	5
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,69,0:69:99:1|1:170561949_GCAA_G:2940,211,0,2941,212,2942:170561949	1	15	4	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,108:108:99:1|1:170561949_GCAA_G:4383,3582,3395,319,313,0:170561949	1	1	3	2
chr7	195574	195574	G	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon2:c.G626A:p.G209D,	Raine syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.0	B	0.0	B	0.108	N	0.610	D	-0.805	N	-0.95	T	-0.982	T	0.105	T	0.059	1.187	9.826	1.06	0.438	2.021	6.320	0.122	0.0129238680876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.57e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.644	0.04943	T	0.69	0.05920	T	0.0	0.02946	B	0.0	0.01387	B	0.107584	0.19564	N	0.430244	0.610269	0.32615	D	.	.	.	-0.95	0.75438	T	-0.13	0.08971	N	0.085	0.06190	-0.9818	0.34585	T	0.105	0.38538	T	10	0.059601933	0.07189	T	0.012924	0.31907	T	0.122	0.33800	0.478	0.55663	0.0675242888579	0.06100	0.30991744733054416	0.30904	0.623705127135	0.56599	0.41611301899	0.27302	T	0.001082	0.00603	T	-0.200719	0.20701	T	-0.526095	0.19678	T	0.0258748258798055	0.01388	T	0.444056	0.12368	T	0.020649498	0.00632	0.040977377	0.04553	0.020649498	0.00632	0.040977377	0.04553	-3.585	0.17640	T	.	.	0.060	0.00904	B	.	.	1.447843	0.18681	13.87	0.71047152299984806	0.09497	0.35276	0.25264	N	AEFDBCI	0.088521	0.17946	N	-0.970848464746253	0.09230	0.4359994	-0.860524090323982	0.13034	0.6739697	0.999990814939942	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.81	1.06	0.19341	1.789000	0.38356	3.672000	0.39440	0.674000	0.70861	0.983000	0.35670	0.999000	0.35428	0.024000	0.12247	0.6069:0.0:0.3931:0.0	6.320	0.20419	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1093.98	36	chr7	195574	.	G	A	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.637e+00;DP=792;ExcessHet=0.0000;FS=3.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-2.760e-01;SOR=0.358	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1108,0,986	20	0	1	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,10:25:63:.:.:63,0,160	5	0	14	2
chr7	2513251	2513251	-	GATG	exonic	LFNG	.	frameshift insertion	LFNG:NM_001166355:exon2:c.142_143insGATG:p.E56Gfs*2,	.	.	6	688	570	158	100	986	0.391689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	18008.05	36	chr7	2513247	.	AGATG	AGATGGATG,A	18008.05	.	AC=8,2;AF=0.190,0.048;AN=42;BaseQRankSum=1.07;DP=1568;ExcessHet=1.5138;FS=0.554;InbreedingCoeff=-0.0500;MLEAC=8,2;MLEAF=0.190,0.048;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=-8.200e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/1:26,55,0:81:99:2200,0,929,2281,1094,3375	12	0	7	0
chr7	2598541	2598541	G	A	exonic	IQCE	.	nonsynonymous SNV	IQCE:NM_001287501:exon15:c.G1322A:p.G441E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.999	D	0.913	D	0.091	N	1.000	N	1.1	L	2.74	T	-1.048	T	0.077	T	0.215	1.535	11.08	1.07	0.214	-0.060	2.278	0.042	0.0371812640299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1201786953	1.371e-06	1.368e-06	0	2.756e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.68238	D	0.029	0.92824	D	0.693	0.77913	P	0.203	0.64886	B	0.091472	0.20324	N	0.466636	1	0.08975	N	1.79	0.46772	L	2.73	0.28002	T	-1.9	0.55339	N	0.257	0.29544	-1.0484	0.14846	T	0.077	0.30951	T	10	0.08312151	0.13792	T	0.037181	0.57455	D	0.042	0.11227	0.16	0.06396	0.342168650903	0.33825	0.07968241405573132	0.07903	0.368860950545	0.38427	0.381146490574	0.22419	T	0.018072	0.38858	T	-0.22407	0.17442	T	-0.559637	0.16410	T	0.15935792028904	0.17824	T	0.757524	0.38090	T	0.0997592	0.23548	0.09972242	0.23820	0.0997592	0.23547	0.09972242	0.23819	-3.147	0.12262	T	.	.	0.102	0.39237	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.117968	0.15034	11.53	0.92335090854096968	0.21733	0.06743	0.12765	N	AEFDBI	0.056573	0.10468	N	-0.713654448041255	0.15637	0.7898234	-0.846072463019593	0.13382	0.6939015	0.237988382164322	0.18539	0.700653	0.57754	0	0.653731	0.59785	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	3.92	1.07	0.19399	-0.012000	0.12637	-0.407000	0.09372	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1123:0.246:0.4624:0.1793	2.278	0.03855	912	0.21483	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	433.98	34	chr7	2598541	.	G	A	433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=746;ExcessHet=0.0000;FS=1.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=-1.455e+00;SOR=0.954	GT:AD:DP:GQ:PL	0/1:29,19:48:99:448,0,731	20	0	1	0
chr7	3951025	3951025	C	T	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon6:c.C950T:p.A317V,	.	.	434	1071	16	1	0	18	0.00833333	.	.	700050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.31	T	1.0	D	0.999	D	0.000	D	1.000	D	1.97	M	3.99	T	-0.656	T	0.195	T	0.606	4.313	22.6	5.51	2.574	3.654	14.109	0.082	.	0.0085	0.0125799	0.0078	0.0216	0.0023	0.0006	0.0003	0.0023	0.0066	0.0320	0.0071991	1113	154602	rs34775958	0.0050	0.0050	0.0043	0.0056	0.0329	0.0049	0.0048	0.0319	0.0315	0.0231	0.0028	0.0002	0.0004	0.0007	0.0038	0.0028	0.0060	0.0329	0.0096	0.0096	0.0095	0.0097	0.0364	0.0092	0.0090	0.0320	0.0303	0.0230	0.0066	0.0050	0.0003	0.0010	0.0008	0	0.0031	0.0123	0.0364	0.042	0.41637	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999956	0.52396	D	1.33	0.33268	L	3.99	0.03268	T	-3.3	0.65858	D	0.678	0.72120	-0.6564	0.62434	T	0.195	0.54826	T	10	0.00770694	0.00175	T	.	.	.	0.196	0.47777	.	.	0.255777322467	0.25185	0.6759865631059169	0.67536	0.209868010446	0.23458	0.511128723621	0.40381	T	0.174289	0.52346	T	-0.432515	0.01432	T	-0.36968	0.36927	T	0.0140382206372918	0.00272	T	0.951205	0.81406	D	0.33527955	0.55901	0.2910117	0.55125	0.33527955	0.55901	0.2910117	0.55124	-6.288	0.48627	T	.	.	0.282	0.58310	B	.;.;.	.;.;.	3.901854	0.56841	23.8	0.99934987773288686	0.99579	0.95430	0.64689	D	AEFDGBI	0.473567	0.51820	N	0.395774751339719	0.61191	4.317093	0.462141489088575	0.65502	4.831709	0.999999591343745	0.74766	0.638212	0.43195	0	0.657636	0.61667	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.51	5.51	0.81769	3.768000	0.55005	7.424000	0.58739	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.8501:0.1499:0.0	14.109	0.64638	927	0.17636	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1034.98	33	chr7	3951025	.	C	T	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.880e-01;DP=824;ExcessHet=0.0000;FS=8.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.48;ReadPosRankSum=-1.229e+00;SOR=1.438	GT:AD:DP:GQ:PL	0/1:75,47:122:99:1049,0,1961	20	0	1	0
chr7	3951870	3951870	C	T	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon7:c.C1100T:p.P367L,	.	.	436	1069	16	1	0	18	0.00834879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	0.211	N	1.000	N	0.715	N	1.65	T	-1.017	T	0.047	T	0.402	2.072	12.88	-2.27	-0.947	-0.548	3.507	0.002	.	0.0022	0.00878594	0.0063	0.0008	0.0017	0.0007	0.0003	0.0025	0.0045	0.0335	0.0058602	906	154602	rs117824452	0.0048	0.0048	0.0040	0.0056	0.0349	0.0047	0.0047	0.0338	0.0334	0.0006	0.0015	0.0002	0.0004	0.0009	0.0043	0.0032	0.0049	0.0349	0.0032	0.0032	0.0025	0.0040	0.0387	0.0030	0.0029	0.0342	0.0324	0.0006	0.0066	0.0016	0.0003	0.0010	0.0008	0	0.0033	0.0043	0.0387	0.065	0.36310	T	0.089	0.40426	T	0.001	0.07471	B	0.001	0.04355	B	0.211193	0.16362	N	0.558200	1	0.08975	N	0.4	0.12274	N	1.65	0.27650	T	-0.06	0.07882	N	0.171	0.19055	-1.0166	0.24819	T	0.047	0.20235	T	10	0.0033321679	0.00058	T	.	.	.	0.037	0.09474	.	.	0.289098819767	0.28531	0.3866514553656123	0.38580	0.0699051351792	0.07831	0.273677051067	0.06626	T	0.029542	0.21146	T	-0.565598	0.00235	T	-0.559457	0.16428	T	0.00317257925574289	0.00033	T	0.0912909	0.00675	T	0.031342827	0.02956	0.031073846	0.01645	0.031342827	0.02955	0.031073846	0.01645	-4.137	0.25833	T	.	.	0.077	0.12465	B	.;.;.	.;.;.	0.375352	0.07474	4.114	0.84874161139894855	0.15549	0.02063	0.06153	N	AEFDBI	0.024184	0.01458	N	-1.40793052906374	0.02568	0.1135956	-1.5274725724055	0.02135	0.09773313	0.984601035554813	0.30745	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.87	-2.27	0.06458	-0.435000	0.07000	-1.666000	0.04955	-0.696000	0.04083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2262:0.2884:0.3911:0.0942	3.507	0.07254	927	0.17636	Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	717.98	34	chr7	3951870	.	C	T	717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=767;ExcessHet=0.0000;FS=0.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=1.15;SOR=0.910	GT:AD:DP:GQ:PL	0/1:42,30:72:99:732,0,931	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,11,0:20:99:.:.:265,0,262,291,294,585	0	6	14	0
chr7	16600829	16600829	G	A	exonic	ANKMY2	.	nonsynonymous SNV	ANKMY2:NM_020319:exon10:c.C1258T:p.L420F,	.	.	426	1044	50	2	0	54	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.119	B	0.07	B	0.298	N	1.000	N	0.55	N	-0.75	T	-0.817	T	0.214	T	0.065	1.667	11.53	2.83	0.505	0.187	12.596	0.219	.	0.0067	0.00439297	0.0071	0.0013	0.0058	0	0.0008	0.0104	0.0132	0.0040	0.0068563	1060	154602	rs35504966	0.0067	0.0067	0.0065	0.0069	0.0562	0.0066	0.0065	0.0511	0.0492	0.0029	0.0055	0.0747	0	0.0011	0.0562	0.0054	0.0121	0.0046	0.0064	0.0064	0.0068	0.0060	0.0087	0.0061	0.0060	0.0075	0.0070	0.0015	0	0.0087	0.0786	0.0002	0.0009	0.0476	0.0064	0.0133	0.0050	0.088	0.32296	T	0.141	0.33442	T	0.119	0.26641	B	0.07	0.27859	B	0.298204	0.03938	N	1.466450	1	0.08975	N	0.345	0.11182	N	-0.75	0.73311	T	-0.63	0.18459	N	0.045	0.01740	-0.8165	0.54152	T	0.214	0.57547	T	10	0.0029207766	0.00047	T	.	.	.	0.219	0.51417	.	.	0.626644753645	0.62360	0.12344504020081694	0.12270	0.0543416032406	0.06012	0.250016897917	0.03769	T	0.001235	0.00725	T	-0.539205	0.00339	T	-0.543302	0.17974	T	0.00773720539080692	0.00090	T	0.448855	0.12628	T	0.044852592	0.07242	0.06048345	0.11525	0.044852592	0.07242	0.06048345	0.11524	-5.901	0.45444	T	.	.	0.068	0.02829	B	.	.	1.195981	0.15877	12.16	0.97636649181179258	0.35051	0.05254	0.11090	N	AEFBI	0.061389	0.11733	N	-0.782526810651424	0.13765	0.6805295	-0.788620490741912	0.14774	0.7737219	0.00813037390479041	0.11615	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.97	2.83	0.32150	0.199000	0.17037	1.786000	0.28758	0.676000	0.76740	0.000000	0.06391	0.009000	0.19889	0.556000	0.30317	0.0:0.4482:0.5518:0.0	12.596	0.55826	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1408.98	38	chr7	16600829	.	G	A	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.94;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.192;SOR=0.722	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1423,0,1285	20	0	1	0
chr7	20154356	20154356	T	G	exonic	MACC1	.	nonsynonymous SNV	MACC1:NM_182762:exon6:c.A2183C:p.E728A,	.	.	433	1081	7	1	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.003	N	1.000	N	0.69	N	1.53	T	-1.065	T	0.006	T	0.125	0.817	8.286	3.73	0.296	1.307	9.522	0.052	.	0.0019	0.0213658	0.0127	0.0049	0.0785	0.0373	0.0106	0.0016	0.0201	0.0042	0.0119403	1846	154602	rs12671170	0.0050	0.0050	0.0051	0.0048	0.0726	0.0049	0.0048	0.0705	0.0696	0.0039	0.0726	0.0117	0.0487	0.0103	0.0016	0.0003	0.0070	0.0044	0.0081	0.0081	0.0076	0.0087	0.0384	0.0077	0.0076	0.0358	0.0348	0.0050	0	0.0384	0.0118	0.0351	0.0126	0	0.0005	0.0099	0.0060	0.082	0.33254	T	0.013	0.63109	D	0.0	0.02946	B	0.0	0.01387	B	0.002733	0.36034	N	0.332040	1	0.08975	N	0.69	0.16971	N	1.53	0.30401	T	0.59	0.02558	N	0.036	0.01068	-1.0646	0.10642	T	0.006	0.02206	T	10	0.002683401	0.00041	T	.	.	.	0.052	0.14661	.	.	.	.	0.2806016829360881	0.27973	0.0128237664559	0.01236	0.278606891632	0.07299	T	0.00322	0.02626	T	-0.648627	0.00074	T	-0.650223	0.08939	T	0.00922168178942532	0.00117	T	0.0984901	0.00732	T	0.040702697	0.05860	0.05056714	0.07964	0.040702697	0.05859	0.05056714	0.07963	-6.0	0.46280	T	.	.	0.073	0.04806	B	.;.;.	.;.;.	0.722346	0.10914	7.584	0.94733351863613113	0.25416	0.65820	0.32866	D	AEFDGBIJ	0.284066	0.39702	N	-0.939154905780423	0.09938	0.4725964	-0.871793626141332	0.12764	0.6584829	0.996192719438669	0.34585	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.55	3.73	0.41982	1.350000	0.33615	0.498000	0.18967	-0.807000	0.03101	0.615000	0.27871	0.002000	0.18203	0.024000	0.12247	0.0:0.7502:0.1188:0.1309	9.522	0.38305	850	0.35610	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1035.98	33	chr7	20154356	.	T	G	1035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.714;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-2.880e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1050,0,1121	20	0	1	0
chr7	20161835	20161835	G	A	exonic	MACC1	.	nonsynonymous SNV	MACC1:NM_182762:exon4:c.C28T:p.R10W,	.	.	463	1055	4	0	0	4	0.00189215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.0	B	0.039	N	1.000	N	-1.39	N	2.84	T	-0.950	T	0.001	T	0.179	-0.180	3.122	2.74	0.456	0.571	1.007	0.056	.	0.0010	0.0197684	0.0123	0.0019	0.0770	0.0370	0.0097	0.0017	0.0188	0.0044	0.0116945	1808	154602	rs117142233	0.0049	0.0049	0.0050	0.0048	0.0718	0.0048	0.0047	0.0697	0.0689	0.0016	0.0718	0.0116	0.0487	0.0093	0.0014	0.0003	0.0068	0.0048	0.0073	0.0073	0.0068	0.0078	0.0382	0.0070	0.0068	0.0356	0.0346	0.0025	0	0.0382	0.0118	0.0357	0.0107	0	0.0005	0.0104	0.0066	0.081	0.33418	T	0.138	0.33780	T	0.0	0.02946	B	0.0	0.01387	B	0.039011	0.24219	N	0.388697	1	0.08975	N	-1.1	0.00987	N	2.84	0.10674	T	-1.52	0.36980	N	0.094	0.07949	-0.9496	0.41040	T	0.001	0.00318	T	10	0.0033397377	0.00058	T	.	.	.	0.056	0.15993	.	.	.	.	0.19364779086579953	0.19282	0.012807585689	0.01236	0.247384339571	0.03497	T	0.00715	0.06566	T	-0.655286	0.00067	T	-0.660596	0.08225	T	0.00766517469858366	0.00089	T	0.281272	0.04917	T	0.039965197	0.05618	0.0335399	0.02266	0.039965197	0.05618	0.0335399	0.02265	-5.069	0.37579	T	.	.	0.055	0.00420	B	.;.;.	.;.;.	1.463025	0.18861	13.96	0.73884733313348094	0.10491	0.00582	0.02622	N	AEFGI	0.056197	0.10370	N	-1.24822069668747	0.04323	0.1948975	-1.13914382836627	0.06964	0.3370566	0.845138950099022	0.24939	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.51	2.74	0.31352	0.578000	0.23476	1.290000	0.25406	-0.040000	0.17491	0.000000	0.06391	0.027000	0.21108	0.013000	0.09966	0.4729:0.107:0.2176:0.2025	1.007	0.01396	842	0.36989	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1561.98	39	chr7	20161835	.	G	A	1561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.400e-02;SOR=0.744	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1576,0,1535	20	0	1	0
chr7	20681647	20681647	A	G	exonic	ABCB5	.	nonsynonymous SNV	ABCB5:NM_178559:exon6:c.A515G:p.Y172C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.147	B	0.052	B	0.224	N	1.000	D	1.72	L	-0.25	T	-0.756	T	0.211	T	0.705	0.537	6.907	3.37	1.043	2.739	7.358	0.298	0.0259026461768	.	0.000798722	0.0003	0	0	0.0025	0	0.0002	0.0011	6.073e-05	0.0002781	43	154602	rs199971982	0.0003	0.0003	0.0003	0.0003	0.0072	0.0002	0.0002	0.0065	0.0063	0	0	0	0.0072	7.495e-05	0.0005	6.115e-05	0.0002	8.117e-05	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	4.813e-05	0	0	0	0.0041	9.418e-05	0	0.0001	0	0.0002	0.012	0.54683	D	0.033	0.53072	D	.	.	.	.	.	.	0.224083	0.16070	N	0.540328	0.978745	0.39492	D	2.165	0.60562	M	-0.25	0.67011	T	-4.82	0.82341	D	0.725	0.75466	-0.7557	0.57636	T	0.211	0.57147	T	10	0.07273951	0.10897	T	0.025903	0.48845	D	0.298	0.61843	.	.	0.545389625809	0.54194	0.5059816140715515	0.50520	0.0334514064282	0.03503	0.455362737179	0.32677	T	0.254081	0.62468	T	-0.232446	0.16326	T	-0.110034	0.62608	T	0.11440409489249	0.13874	T	0.939306	0.87848	D	0.15684122	0.35373	0.23079546	0.48192	0.15684122	0.35373	0.23079546	0.48191	-9.117	0.68446	D	.	.	0.112	0.33891	B	.;.	.;.	2.932172	0.38961	20.9	0.9755854186326417	0.34610	0.67607	0.33494	D	AEBHCI	0.412099	0.48231	N	-0.233959004684698	0.31748	1.783368	-0.165154627977401	0.32829	1.871655	3.80719538279135E-4	0.06745	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.54	3.37	0.37692	2.158000	0.41955	2.590000	0.33463	0.751000	0.87719	0.951000	0.33123	0.808000	0.27011	0.877000	0.41881	0.6456:0.0:0.0:0.3544	7.358	0.25904	864	0.32732	ABC transporter-like;.	.	.	.	.	.	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	0.02381	1290.98	35	chr7	20681647	.	A	G	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=807;ExcessHet=0.0000;FS=2.135;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.94;ReadPosRankSum=1.30;SOR=1.044	GT:AD:DP:GQ:PL	0/1:34,47:81:99:1305,0,882	20	0	1	0
chr7	24679250	24679250	G	C	exonic	MPP6	.	nonsynonymous SNV	MPP6:NM_001303037:exon10:c.G1234C:p.G412R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	3.405	M	1.91	T	-0.415	T	0.264	T	0.866	5.255	33	5.97	2.837	9.869	20.428	0.565	0.0886706389413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.028	0.55759	D	0.999	0.77913	D	0.993	0.81110	D	0.000068	0.52346	D	0.000000	1	0.81001	D	3.825	0.95591	H	1.91	0.23283	T	-5.24	0.88767	D	0.856	0.85238	-0.4146	0.71563	T	0.264	0.63501	T	10	0.9472613	0.94054	D	0.088671	0.75178	D	0.565	0.82232	0.888	0.97226	0.587908032676	0.58465	0.920303388007737	0.92006	1.64548930497	0.89442	0.907022356987	0.97181	D	0.169855	0.51739	T	0.248509	0.78461	D	0.119189	0.78181	D	0.998522460460663	0.94393	D	0.987151	0.95601	D	0.8591695	0.88022	0.84184295	0.90960	0.8591695	0.88023	0.84184295	0.90961	-9.597	0.71461	D	.	.	0.845	0.79479	P	.;.;.	.;.;.	5.444100	0.90971	32	0.99944870263808461	0.99886	0.99312	0.94338	D	AEFBI	0.914214	0.87727	D	1.09138995377365	0.97971	17.14312	1.04387370962903	0.99310	21.83092	0.999999999999811	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.97	5.97	0.96935	10.003000	0.99689	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.428	0.99077	615	0.66512	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	256.11	76	chr7	24679250	.	G	C	256.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.838e+00;DP=1517;ExcessHet=0.1072;FS=306.930;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.08;ReadPosRankSum=2.56;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,18:117:99:.:.:175,0,2825	19	0	2	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,126,0:126:99:.:.:4087,377,0,4087,377,4087	0	18	1	0
chr7	30598875	30598875	G	A	exonic	GARS1	.	nonsynonymous SNV	GARS1:NM_001316772:exon2:c.G140A:p.R47H	.	.	1	1518	3	0	0	3	0.000987167	.	.	244499	not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2|Neuronopathy,_distal_hereditary_motor,_type_5A|not_specified|Charcot-Marie-Tooth_disease_type_2D	MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536|MedGen:CN169374|MONDO:MONDO:0011091,MedGen:C1832274,OMIM:601472,Orphanet:99938	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.97	D	0.000	D	1.000	D	2.8	M	1.46	T	-0.699	T	0.213	T	0.75	5.002	29.4	5.29	2.662	9.224	14.810	0.335	0.0140297148955	0.0002	0.000199681	0.0004	0	0.0003	0	0	0.0006	0.0011	6.11e-05	0.0003169	49	154602	rs200887429	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	5.975e-05	0.0003	0	0	0	0.0003	0.0003	0.0002	9.275e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0003	0.0002	2.407e-05	0	0.0006	0	0	9.418e-05	0	0.0004	0	0	0.053	0.38863	T	0.353	0.17320	T	1.0	0.90584	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.46	0.32238	T	-4.37	0.77061	D	0.875	0.87265	-0.6986	0.60505	T	0.213	0.57401	T	10	0.5207992	0.62630	D	0.01403	0.33868	T	0.335	0.65718	.	.	0.488820726603	0.48513	0.654980626495586	0.65434	0.574074473097	0.53444	0.672124862671	0.63140	T	0.42117	0.77265	T	-0.14062	0.29791	T	-0.0948287	0.63795	T	0.471969485282898	0.31603	T	0.995845	0.98562	D	0.61523163	0.73508	0.3085908	0.56877	0.61523163	0.73509	0.3085908	0.56876	-12.933	0.89085	D	.	.	0.474	0.63367	A	.	.	5.895561	0.93981	33	0.99946138698159004	0.99901	0.99748	0.99172	D	AEFBI	0.925397	0.90487	D	0.931813702403865	0.93229	11.903	0.889734170197104	0.95109	13.31977	0.999999999999827	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	9.102000	0.93579	9.954000	0.82748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	14.810	0.69616	738	0.53389	WHEP-TRS domain|WHEP-TRS domain|WHEP-TRS domain|WHEP-TRS 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	0.02381	841.98	41	chr7	30598875	.	G	A	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=776;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.03;SOR=0.549	GT:AD:DP:GQ:PL	0/1:36,35:71:99:856,0,897	20	0	1	0
chr7	31652795	31652795	C	G	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon13:c.C3101G:p.P1034R	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.815	P	0.314	B	0.844	N	1.000	N	1.95	M	2.53	T	-1.030	T	0.029	T	0.117	1.211	9.917	-0.303	-0.187	-0.005	3.633	0.031	0.00615268077865	0.0032	0.00119808	0.0034	0.0005	0.0010	0	0.0009	0.0051	0.0011	0.0032	0.0033829	523	154602	rs34177136	0.0043	0.0043	0.0042	0.0044	0.0049	0.0042	0.0042	0.0048	0.0048	0.0005	0.0013	0.0040	0	0.0010	0.0031	0.0049	0.0038	0.0036	0.0031	0.0031	0.0033	0.0029	0.0055	0.0029	0.0028	0.0050	0.0048	0.0010	0	0.0011	0.0072	0	0.0007	0.0034	0.0055	0.0033	0.0010	0.006	0.61437	D	0.0	0.92824	D	0.815	0.45525	P	0.314	0.41528	B	0.843657	0.07014	N	1.098150	1	0.08975	N	.	.	.	2.26	0.17596	T	-1.48	0.36189	N	0.124	0.19459	-1.0302	0.20390	T	0.029	0.12365	T	10	0.0040017962	0.00077	T	0.006153	0.16111	T	0.031	0.07369	.	.	0.0986583533028	0.09354	.	.	.	.	0.252019762993	0.03984	T	0.004624	0.04028	T	-0.638039	0.00086	T	-0.686386	0.06600	T	0.0065397225368435	0.00073	T	0.679032	0.28770	T	0.045630172	0.07501	0.04477363	0.05876	0.045630172	0.07501	0.04477363	0.05875	-3.754	0.22062	T	.	.	0.113	0.22354	B	.;.;.;.	.;.;.;.	1.911327	0.24272	16.34	0.92222356321370735	0.21597	0.03313	0.08377	N	AEFI	0.059684	0.11290	N	-0.835650302720572	0.12406	0.6045303	-1.01817122154694	0.09386	0.4666579	0.780041901574174	0.23825	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.96	-0.303	0.12158	0.035000	0.13685	0.077000	0.14340	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.1791:0.504:0.0:0.3169	3.633	0.07680	850	0.35610	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	931.98	36	chr7	31652795	.	C	G	931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.470e+00;DP=779;ExcessHet=0.0000;FS=3.437;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-1.830e-01;SOR=0.350	GT:AD:DP:GQ:PL	0/1:43,37:80:99:946,0,1248	20	0	1	0
chr7	33357864	33357864	G	A	exonic	BBS9	.	nonsynonymous SNV	BBS9:NM_001348044:exon12:c.G1091A:p.R364Q	Bardet-Biedl syndrome 9, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	252810	not_specified|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_9|Bardet-Biedl_syndrome_1	MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986,Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.14	T	0.871	P	0.586	P	0.000	D	1.000	D	1.95	M	2.14	T	-1.196	T	0.029	T	0.372	4.435	23.6	5.94	2.823	3.641	11.656	0.080	.	0.0117	0.00858626	0.0029	0.0314	0.0010	0	0	0.0002	0.0055	0.0001	0.0027167	420	154602	rs34218557	0.0010	0.0010	0.0011	0.0008	0.0329	0.0009	0.0009	0.0312	0.0306	0.0329	0.0016	0	0	1.875e-05	0.0003	0.0001	0.0018	0.0001	0.0086	0.0086	0.0091	0.0081	0.0300	0.0082	0.0080	0.0286	0.0281	0.0300	0	0.0022	0	0	0	0.0034	8.861e-05	0.0090	0	0.005	0.63226	D	0.015	0.61642	D	0.792	0.47859	P	0.328	0.50343	B	0.000159	0.49130	D	0.128329	0.987233	0.41742	D	2.045	0.56016	M	2.14	0.19450	T	-3.12	0.63782	D	0.518	0.57348	-1.1964	0.00179	T	0.029	0.12497	T	10	0.0072534382	0.00165	T	.	.	.	0.080	0.23350	.	.	0.501247319706	0.49760	0.5480046693721975	0.54726	0.177799176381	0.20007	0.451767086983	0.32185	T	0.193484	0.54896	T	-0.45226	0.01095	T	-0.399419	0.33453	T	0.0337267402016628	0.02591	T	0.929107	0.80823	D	0.41228387	0.61574	0.3001707	0.56051	0.48059824	0.65937	0.40339193	0.64796	-8.435	0.65116	D	0.484081918983691	0.56218	0.146	0.32251	B	.;.;.;.	.;.;.;.	3.831913	0.55391	23.6	0.99952337751656739	0.99951	0.81063	0.40548	D	AEFCI	0.381657	0.46383	N	0.523899008611477	0.68508	5.22669	0.583864498926327	0.73784	6.027329	0.956875047626851	0.28271	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.94	5.94	0.96165	3.534000	0.53324	6.653000	0.56222	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.1104:0.0:0.8896:0.0	11.656	0.50578	744	0.52588	PTHB1, 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	1	0	0.02381	1459.98	35	chr7	33357864	.	G	A	1459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.570e-01;DP=815;ExcessHet=0.0000;FS=4.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.435;SOR=0.357	GT:AD:DP:GQ:PL	0/1:49,59:108:99:1474,0,1175	20	0	1	0
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,132,0:132:99:.:.:3923,389,0,3923,389,3923	8	5	7	0
chr7	44571636	44571636	T	C	exonic	DDX56	.	nonsynonymous SNV	DDX56:NM_001257189:exon6:c.A746G:p.Y249C	.	.	430	1037	55	0	0	55	0.0258337	.	.	700085	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.751	P	0.396	B	0.000	D	1.000	D	0.715	N	3.81	T	-0.825	T	0.005	T	0.844	3.871	19.67	5.82	2.214	3.647	14.121	0.250	.	0.0059	0.00978435	0.0095	0.0016	0.0022	0.0182	0.0033	0.0068	0.0099	0.0288	0.0090232	1395	154602	rs41279639	0.0090	0.0090	0.0083	0.0097	0.0303	0.0089	0.0088	0.0289	0.0283	0.0014	0.0017	0.0006	0.0303	0.0044	0.0243	0.0076	0.0085	0.0287	0.0062	0.0062	0.0060	0.0063	0.0286	0.0058	0.0057	0.0247	0.0232	0.0014	0.0011	0.0027	0.0003	0.0189	0.0039	0.0136	0.0080	0.0043	0.0286	0.039	0.42487	D	0.048	0.48594	D	0.751	0.43285	P	0.396	0.44364	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.915	0.23335	L	3.73	0.03982	T	-7.8	0.95924	D	0.614	0.63035	-0.8252	0.53607	T	0.005	0.01797	T	10	0.008875042	0.00201	T	.	.	.	0.250	0.55888	.	.	0.317084106153	0.31322	0.7164207853053588	0.71585	0.199772270355	0.22381	0.637889862061	0.58264	T	0.488993	0.81440	T	-0.252098	0.13842	T	-0.112585	0.62404	T	0.0423521330847552	0.04119	T	0.925407	0.84742	D	0.5848839	0.71874	0.57050467	0.75130	0.5848839	0.71875	0.57050467	0.75131	-5.711	0.43791	T	.	.	0.118	0.49186	B	.;.	.;.	2.974309	0.39654	21.0	0.99690544516304314	0.79909	0.88637	0.48659	D	AEFDBCI	0.584528	0.58331	D	0.136328287056016	0.48164	3.032313	0.271139031623838	0.53862	3.553123	0.999999999996311	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	3.660000	0.54234	5.069000	0.47160	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:0.0:0.0:1.0	14.121	0.64717	799	0.44747	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	rs41279639	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2031.98	43	chr7	44571636	.	T	C	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=940;ExcessHet=0.0000;FS=3.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=2.40;SOR=0.771	GT:AD:DP:GQ:PL	0/1:99,80:179:99:2046,0,2465	20	0	1	0
chr7	45084206	45084206	C	0	exonic	NACAD	.	.	.	.	.	527	929	28	5	33	71	0.0200422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	2190.13	33	chr7	45084206	.	C	T,*	2190.13	.	AC=4,1;AF=0.118,0.029;AN=34;BaseQRankSum=1.42;DP=744;ExcessHet=0.0409;FS=1.942;InbreedingCoeff=0.1581;MLEAC=5,1;MLEAF=0.147,0.029;MQ=50.91;MQRankSum=1.53;QD=12.52;ReadPosRankSum=-2.863e+00;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:3,0,18:21:12:.:.:534,564,665,0,36,12	13	1	2	4
chr7	45084219	45084338	GAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	-	exonic	NACAD	.	nonframeshift deletion	NACAD:NM_001146334:exon2:c.1842_1961del:p.I625_T664del,	.	.	515	945	29	0	33	62	0.015112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0061	0	0	0	0.0005	0	0.0004	.	.	.	.	0.0013	0.0015	0.0012	0.0013	0.0048	0.0012	0.0012	0.0038	0.0035	0.0048	0.0017	0.0029	0.0030	0.0040	0.0016	0.0010	0.0018	0.0006	0.0033	0.0017	0.0029	0.0037	0.0160	0.0029	0.0027	0.0132	0.0121	0.0160	0	0.0057	0.0007	0.0025	0.0028	0	0.0011	0.0015	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2010.91	33	chr7	45084218	.	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C,*	2010.91	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.49;DP=975;ExcessHet=0.6776;FS=5.653;InbreedingCoeff=-0.0747;MLEAC=3,1;MLEAF=0.071,0.024;MQ=54.44;MQRankSum=-1.620e-01;QD=5.52;ReadPosRankSum=-2.189e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:3,0,18:21:12:.:.:534,564,665,0,36,12	17	0	3	0
chr7	45084218	45084338	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	0	exonic	NACAD	.	.	.	.	.	515	945	29	0	33	62	0.015112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2010.91	33	chr7	45084218	.	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C,*	2010.91	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.49;DP=975;ExcessHet=0.6776;FS=5.653;InbreedingCoeff=-0.0747;MLEAC=3,1;MLEAF=0.071,0.024;MQ=54.44;MQRankSum=-1.620e-01;QD=5.52;ReadPosRankSum=-2.189e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:3,0,18:21:12:.:.:534,564,665,0,36,12	17	0	3	0
chr7	45084224	45084224	T	0	exonic	NACAD	.	.	.	.	.	705	684	53	24	56	157	0.0687543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	773.64	33	chr7	45084224	.	T	A,*	773.64	.	AC=3,4;AF=0.136,0.182;AN=22;BaseQRankSum=1.67;DP=1143;ExcessHet=0.4362;FS=6.611;InbreedingCoeff=0.0073;MLEAC=5,6;MLEAF=0.227,0.273;MQ=47.16;MQRankSum=-4.237e+00;QD=1.81;ReadPosRankSum=-1.513e+00;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:3,0,18:21:12:.:.:534,564,665,0,36,12	5	1	1	10
chr7	47821092	47821092	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon46:c.C6949T:p.R2317W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	419	1088	14	1	0	16	0.00729927	.	.	722548	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.007	N	1.000	N	2.045	M	1.94	T	-0.995	T	0.087	T	0.532	2.874	15.58	1.05	-0.019	0.383	13.827	0.107	0.0350360262237	0.0015	0.00199681	0.0018	0.0010	0.0004	0.0003	0.0003	0.0025	0.0089	0.0012	0.0019081	295	154602	rs139293796	0.0020	0.0021	0.0021	0.0020	0.0112	0.0020	0.0020	0.0090	0.0082	0.0009	0.0013	0.0055	2.526e-05	0.0003	0.0112	0.0022	0.0020	0.0012	0.0018	0.0018	0.0019	0.0017	0.0025	0.0016	0.0015	0.0022	0.0021	0.0007	0	0.0015	0.0075	0.0002	0.0003	0.0034	0.0025	0.0028	0.0015	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.76916	D	0.006778	0.31811	N	0.175773	1	0.08975	N	2.36	0.67893	M	1.94	0.22678	T	-5.19	0.83625	D	0.545	0.57177	-0.9950	0.31299	T	0.087	0.33634	T	10	0.012393147	0.00266	T	0.035036	0.56079	D	0.107	0.30369	.	.	0.745099471361	0.74281	0.5345255532974426	0.53377	0.497463811139	0.48245	0.279146969318	0.07374	T	0.529557	0.83695	D	-0.437267	0.01342	T	-0.399927	0.33392	T	0.0478573780622542	0.05117	T	0.713829	0.32570	T	0.23060572	0.45819	0.37620524	0.62748	0.23060572	0.45819	0.37620524	0.62747	-7.096	0.54732	T	0.7257097379071875	0.80711	0.163	0.36012	B	.	.	3.704734	0.52853	23.3	0.99729252329224871	0.82619	0.03367	0.08463	N	AEFI	0.069132	0.13670	N	-0.0249142248569835	0.40730	2.423826	-0.219562588434269	0.30835	1.739628	0.754834003598971	0.23417	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.27	1.05	0.19280	0.395000	0.20576	0.923000	0.22720	0.671000	0.69459	0.043000	0.21118	0.546000	0.25442	0.995000	0.73285	0.0:0.0:0.3124:0.6876	13.827	0.62852	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1162.98	42	chr7	47821092	.	G	A	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=784;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.512;SOR=0.824	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1177,0,1016	20	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.015	B	0.801	N	1.000	N	1.43	L	2.05	T	-0.987	T	0.034	T	0.157	1.299	10.25	-2.48	-0.557	-1.200	0.856	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,39,0:117:99:0|1:47829595_G_C:334,0,1832,564,1941,2505:47829595	5	0	7	7
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.325	B	0.037	B	0.801	N	1.000	N	1.43	L	1.99	T	-1.014	T	0.032	T	0.13	3.478	17.80	-2.48	-0.557	-1.200	0.856	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,39,0:117:99:0|1:47829595_G_C:334,0,1832,564,1941,2505:47829595	5	0	7	7
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,39,0:117:99:0|1:47829595_G_C:334,0,1832,564,1941,2505:47829595	0	0	17	1
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.086	B	0.052	B	0.006	N	1.000	D	0.845	L	-2.14	D	-0.815	T	0.370	T	0.147	0.709	7.777	-4.68	-0.843	1.044	14.599	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2368	964.53	38	chr7	48103309	.	A	G	964.53	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.089e+00;DP=1700;ExcessHet=4.7172;FS=113.804;InbreedingCoeff=-0.3130;MLEAC=10;MLEAF=0.263;MQ=59.98;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.721;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,21:98:99:.:.:183,0,2468	10	0	9	2
chr7	55819148	55819148	A	G	exonic	SEPTIN14	.	nonsynonymous SNV	SEPTIN14:NM_207366:exon7:c.T796C:p.Y266H,	.	.	438	1078	6	0	0	6	0.00277521	.	.	3317685	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.995	D	4.265	H	0.1	T	0.293	D	0.527	D	0.458	3.765	19.12	3.85	1.730	5.883	10.914	0.511	0.0177265798952	0.0002	.	0.0008	0	0.0009	0	0	0.0013	0	0.0008	0.0002458	38	154602	rs368110863	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0005	0.0004	0	7.447e-05	7.836e-05	0	3.87e-05	0.0010	0.0002	0.0004	0.0006	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.24e-05	0.0001	0.0001	2.413e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000087	0.51296	D	0.000000	0.994806	0.42423	D	4.17	0.97676	H	0.1	0.61326	T	-4.73	0.80085	D	0.856	0.85238	0.293	0.87451	D	0.527	0.82423	D	10	0.70511633	0.72688	D	0.017727	0.39542	T	0.511	0.79033	.	.	0.82953268579	0.82791	0.8631753119063565	0.86281	0.488469659113	0.47645	0.795006930828	0.81203	T	0.37677	0.74009	T	-0.179676	0.23783	T	-0.15532	0.58771	T	0.862921714782715	0.51320	D	0.985476	0.95021	D	0.8406141	0.86652	0.72309667	0.83647	0.8406141	0.86654	0.72309667	0.83648	-10.879	0.78990	D	.	.	0.769	0.75873	P	.	.	4.577351	0.72282	25.8	0.99859969831478768	0.93820	0.89689	0.50315	D	AEFDI	0.598128	0.59164	D	0.826979044880065	0.87763	9.331443	0.66692755664816	0.79878	7.176116	0.0025009672325353	0.09478	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.85	3.85	0.43556	6.069000	0.70846	10.691000	0.83578	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	10.914	0.46333	845	0.36510	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2535.11	34	chr7	55819148	.	A	G	2535.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.714;DP=901;ExcessHet=0.1072;FS=3.741;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.37;ReadPosRankSum=1.24;SOR=0.496	GT:AD:DP:GQ:PL	0/1:56,45:101:99:1071,0,1351	19	0	2	0
chr7	56081167	56081167	C	T	exonic	PHKG1	.	nonsynonymous SNV	PHKG1:NM_001258460:exon10:c.G1024A:p.A342T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.69	T	-0.281	T	0.345	T	0.781	5.639	36	5.16	2.590	7.818	18.032	0.316	0.0650783054506	0.0002	0.000199681	4.962e-05	0.0004	8.642e-05	0	0	1.507e-05	0	0	5.17e-05	8	154602	rs200148808	6.226e-05	6.225e-05	6.944e-05	5.501e-05	0.0002	5.162e-05	4.781e-05	9.752e-05	6.952e-05	0.0002	2.236e-05	0	0	0	0	7.285e-05	3.312e-05	0	7.88e-05	7.874e-05	0.0001	5.372e-05	0.0003	4.494e-05	3.51e-05	0.0001	0.0001	0.0003	0	0	0	0.0002	0	0	0	0	0	0.004	0.68238	D	0.039	0.64786	D	1.0	0.90584	D	0.899	0.63802	P	0.000002	0.62929	D	0.000000	1	0.81001	D	2.865	0.83145	M	0.69	0.51714	T	-3.15	0.65627	D	0.716	0.79696	-0.2806	0.75524	T	0.345	0.71004	T	10	0.50665885	0.61858	D	0.065078	0.69472	D	0.316	0.63799	.	.	0.759977468783	0.75779	0.8110861950254451	0.81063	0.637870713322	0.57527	0.752225041389	0.74775	T	0.509173	0.82612	D	-0.083927	0.39074	T	-0.00429811	0.70056	D	0.848823606967926	0.50064	D	0.950605	0.83071	D	0.3955491	0.60423	0.39056277	0.63848	0.3955491	0.60423	0.39056277	0.63848	-6.351	0.49125	T	.	.	0.350	0.64794	A	.;.;.	.;.;.	4.999555	0.82944	27.9	0.99934707666718514	0.99535	0.95909	0.66678	D	AEFDBCI	0.909482	0.86618	D	0.833098327822869	0.88124	9.462621	0.787424614323406	0.88907	9.761503	0.999999999949386	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.528226	0.09195	0	.	.	5.16	5.16	0.70563	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.032	0.89212	629	0.65079	.;.;.	.	.	.	.	.	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	0.02381	2116.98	41	chr7	56081167	.	C	T	2116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.859;DP=897;ExcessHet=0.0000;FS=2.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.874;SOR=0.513	GT:AD:DP:GQ:PL	0/1:94,86:180:99:2131,0,2227	20	0	1	0
chr7	64978457	64978457	G	C	exonic	ERV3-1-ZNF117;ZNF117	.	nonsynonymous SNV	ERV3-1-ZNF117:NM_001348050:exon4:c.C1114G:p.Q372E	.	.	.	.	.	.	.	.	.	.	.	3488352	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.38	B	0.099	B	.	.	1.000	N	1.295	L	3.2	T	-0.973	T	0.016	T	0.057	-0.077	3.621	0.068	-0.287	-5.247	5.283	0.009	0.00100263254414	0.0002	.	5.804e-05	0	0	0	0	8.998e-05	0.0011	0	5.82e-05	9	154602	rs372156794	6.637e-05	6.635e-05	5.855e-05	7.428e-05	0.0002	5.563e-05	5.154e-05	6.06e-05	5.569e-05	0	0	0	0	0	0.0002	7.376e-05	0.0002	0	3.317e-05	3.297e-05	6.476e-05	0	6.607e-05	1.27e-05	8.05e-06	1.981e-05	1.13e-05	0	0	6.607e-05	0	0	0	0	5.919e-05	0	0	0.271	0.15984	T	0.139	0.33666	T	0.38	0.34363	B	0.099	0.30579	B	.	.	.	.	1	0.08975	N	1.21	0.30464	L	3.2	0.07236	T	-1.49	0.36385	N	0.041	0.01658	-0.9732	0.36518	T	0.016	0.06569	T	9	0.062168717	0.07909	T	0.001003	0.01073	T	0.009	0.00846	.	.	0.193865811164	0.18958	0.004080550305960712	0.00383	0.0146290054769	0.01385	.	.	.	0.002591	0.01984	T	-0.536848	0.00350	T	-0.811278	0.01636	T	0.0475859923272462	0.05069	T	0.00569943	0.00021	T	0.058788665	0.11869	0.052073	0.08507	0.058788665	0.11869	0.052073	0.08507	-6.894	0.53255	T	.	.	0.208	0.43585	B	.;.	.;.	-0.457299	0.02008	0.178	0.46257543262248757	0.03692	0.00094	0.00618	N	AEFBHCI	0.038782	0.05538	N	-1.325419231853	0.03387	0.1512041	-1.48884496253053	0.02435	0.1120018	0.00976411137590875	0.11910	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.11	0.068	0.13678	-3.503000	0.00500	.	.	-0.731000	0.03728	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2261:0.0:0.7739:0.0	5.283	0.14997	716	0.55970	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1692.98	61	chr7	64978457	.	G	C	1692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e-01;DP=1312;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.151;SOR=0.628	GT:AD:DP:GQ:PL	0/1:61,71:132:99:1707,0,1430	20	0	1	0
chr7	73553638	73553638	A	C	exonic	BCL7B	.	nonsynonymous SNV	BCL7B:NM_001301061:exon2:c.T35G:p.V12G,	.	.	532	983	5	2	0	9	0.00455696	.	.	2825746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0041878	109	26028	rs150783798	0.0173	0.0003	0.0182	0.0166	0.0234	0.0128	0.0112	0.0168	0.0146	0	.	.	.	0.0048	0.0234	0	0.0077	0.0156	0.0038	0.0038	0.0040	0.0037	0.0098	0.0036	0.0035	0.0076	0.0068	0.0010	0	0.0050	0.0110	0	0.0007	0.0238	0.0051	0.0085	0.0098	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.241	0.27197	.	.	.	.	.	.	.	0.005997807	0.00135	T	.	.	.	.	.	.	.	0.259504319725	0.25562	0.14090083166857592	0.14013	.	.	.	.	.	0.394278	0.75346	T	-0.831954	0.00004	T	-0.965487	0.00217	T	.	.	.	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32005	B	.	.	0.464521	0.08344	5.092	0.63466116940903872	0.07231	0.00546	0.02508	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0869984702313369	0.16023	0.099367	0.02607	0	0.104858	0.03167	0	0.059349	0.00372	0	0.117559	0.03655	0	0.0519227	0.10831	0.429	0.429	0.15721	0.376000	0.20265	0.844000	0.22071	0.539000	0.25131	0.006000	0.17386	0.004000	0.18990	0.010000	0.09038	.	.	.	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	0.04762	404.48	17	chr7	73553638	.	A	C	404.48	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.536;DP=313;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0583;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=-1.137e+00;SOR=1.022	GT:AD:DP:GQ:PL	0/1:6,7:13:99:208,0,176	19	0	2	0
chr7	87381958	87381958	G	A	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon11:c.G1027A:p.D343N	.	.	451	1070	1	0	0	1	0.000467071	.	.	2672711	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.011	B	0.015	B	0.000	D	1.000	D	1.215	L	-2.48	D	-0.173	T	0.569	D	0.285	2.713	15.03	5.35	2.674	6.169	19.421	0.346	0.0504303391021	7.7e-05	.	7.475e-05	0	0	0	0	9.068e-05	0.0011	0.0001	5.82e-05	9	154602	rs201754021	7.678e-05	7.661e-05	8.183e-05	7.167e-05	0.0007	6.504e-05	6.083e-05	0.0002	0.0001	0	2.241e-05	0	0	0	0.0007	9.095e-05	6.634e-05	2.341e-05	5.253e-05	5.25e-05	6.425e-05	4.029e-05	8.823e-05	2.556e-05	1.829e-05	3.763e-05	2.576e-05	2.405e-05	0	0	0	0	0	0.0034	8.823e-05	0	0	0.446	0.09101	T	0.35	0.17478	T	0.009	0.15093	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.65	0.42232	L	-2.48	0.89071	D	-1.05	0.27463	N	0.367	0.40864	-0.1733	0.78347	T	0.569	0.84404	D	10	0.2553631	0.42927	T	0.05043	0.64240	D	0.346	0.66769	.	.	0.805041889666	0.80321	0.7385355380686064	0.73798	0.0270564746845	0.02765	0.446804791689	0.31507	T	0.194019	0.54967	T	-0.0956672	0.37142	T	-0.189292	0.55657	T	0.0828937664628029	0.10353	T	0.754025	0.37642	T	0.44757488	0.63888	0.37468627	0.62629	0.44757488	0.63888	0.37468627	0.62628	-7.351	0.58073	T	.	.	0.212	0.60931	B	.;.;.	.;.;.	2.973439	0.39636	21.0	0.99190887039898445	0.54965	0.97393	0.74464	D	AEFBCI	0.789880	0.71894	D	0.00121784298903509	0.41910	2.515456	0.194883082937241	0.49566	3.158254	0.999999994904025	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	6.252000	0.72400	6.700000	0.56368	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.421	0.94714	489	0.76795	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1306.98	33	chr7	87381958	.	G	A	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.042;DP=813;ExcessHet=0.0000;FS=1.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.791e+00;SOR=0.536	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1321,0,1384	20	0	1	0
chr7	91874600	91874600	G	A	exonic	MTERF1	.	nonsynonymous SNV	MTERF1:NM_001301134:exon2:c.C134T:p.T45I	.	.	435	1028	56	3	0	62	0.0292729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.248	N	1.000	N	0	N	2.14	T	-1.022	T	0.016	T	0.213	1.615	11.36	-5.02	-1.299	-0.074	2.209	0.038	.	0.0040	0.00559105	0.0068	0.0008	0.0039	0	0.0008	0.0054	0.0077	0.0246	0.0063777	986	154602	rs144315661	0.0060	0.0061	0.0053	0.0068	0.0242	0.0059	0.0059	0.0234	0.0230	0.0007	0.0049	0.0093	2.519e-05	0.0009	0.0189	0.0051	0.0065	0.0242	0.0037	0.0037	0.0036	0.0038	0.0193	0.0034	0.0033	0.0161	0.0150	0.0008	0.0022	0.0046	0.0078	0.0004	0.0005	0.0136	0.0046	0.0057	0.0193	0.022	0.53172	D	0.056	0.48336	T	0.0	0.02946	B	0.0	0.01387	B	0.248325	0.03630	N	1.642570	1	0.08975	N	.	.	.	2.14	0.19588	T	-1.41	0.46673	N	0.065	0.06454	-1.0217	0.23162	T	0.016	0.06616	T	10	0.0039517283	0.00076	T	.	.	.	0.038	0.09825	.	.	0.132336055621	0.12781	0.2644336759851309	0.26356	0.0143366314817	0.01361	0.268318295479	0.05923	T	0.04567	0.28255	T	-0.603668	0.00139	T	-0.620979	0.11108	T	0.000724357750141172	0.00007	T	0.316468	0.06291	T	0.072079584	0.16005	0.06939085	0.14615	0.072079584	0.16005	0.06939085	0.14614	-3.658	0.18700	T	.	.	0.085	0.13644	B	.;.;.;.;.	.;.;.;.;.	-0.333427	0.02474	0.287	0.96019872344555135	0.28471	0.08748	0.14631	N	AEFBI	0.060282	0.11445	N	-1.29027437057803	0.03791	0.1700041	-1.3719998385924	0.03553	0.1659791	0.267473086559066	0.18856	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.23	-5.02	0.02759	-0.051000	0.11840	0.012000	0.13456	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1521:0.15:0.2022:0.4958	2.209	0.03702	144	0.94257	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2584.98	41	chr7	91874600	.	G	A	2584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.580e-01;DP=932;ExcessHet=0.0000;FS=1.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=-8.920e-01;SOR=0.810	GT:AD:DP:GQ:PL	0/1:75,98:173:99:2599,0,1820	20	0	1	0
chr7	100158169	100158169	C	A	exonic	MAP11	.	nonsynonymous SNV	MAP11:NM_018275:exon1:c.G331T:p.G111W,	.	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.003	N	1.000	D	0	N	0.7	T	-0.823	T	0.139	T	0.518	2.285	13.60	3.96	2.512	3.075	11.816	0.231	.	.	0.000199681	0.0007	0	0	0	0	0.0011	0.0294	0	8.41e-05	13	154602	rs536485612	0.0001	0.0001	9.966e-05	0.0002	0.0009	0.0001	0.0001	0.0007	0.0006	0	0.0001	5.109e-05	0	3.04e-05	0.0005	0.0001	0.0002	0.0009	8.546e-05	8.533e-05	3.859e-05	0.0001	0.0006	4.959e-05	3.964e-05	0.0002	9.003e-05	0	0	6.534e-05	0	0	9.422e-05	0	0.0001	0	0.0006	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.988	0.77976	D	0.002699	0.36102	N	0.177483	0.674682	0.33176	D	0	0.06538	N	0.7	0.51474	T	-1.26	0.31778	N	0.437	0.47580	-0.8231	0.53739	T	0.139	0.45715	T	10	0.08062863	0.13107	T	.	.	.	0.231	0.53208	0.2	0.11384	0.520213676446	0.51666	0.3585259903349923	0.35766	0.671166192088	0.59450	.	.	.	0.101135	0.40759	T	-0.274904	0.11215	T	-0.312647	0.43374	T	0.0993053991982656	0.12280	T	0.738226	0.35599	T	0.24056916	0.46961	0.18074307	0.40893	0.24056916	0.46961	0.18074307	0.40892	-6.933	0.53543	T	.	.	0.207	0.43311	B	.	.	4.170690	0.62707	24.5	0.97822546738632865	0.36207	0.55189	0.29802	D	AEFDBHCI	0.395514	0.47234	N	0.190396140304556	0.50737	3.26103	0.164074942236557	0.47893	3.012772	0.999999888638578	0.74766	0.65757	0.49021	0	0.298843	0.05288	2	0.619478	0.44681	0	0.492483	0.08430	1	.	.	3.96	3.96	0.45097	2.645000	0.46287	6.723000	0.56435	0.502000	0.22824	0.072000	0.22128	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	11.816	0.51487	234	0.90879	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	296.98	21	chr7	100158169	.	C	A	296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.420e-01;DP=550;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=0.114;SOR=0.608	GT:AD:DP:GQ:PL	0/1:9,11:20:99:311,0,264	20	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,28:91:99:.:.:454,0,2137	0	0	21	0
chr7	100416308	100416308	C	G	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon7:c.G628C:p.A210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.925	D	0.126	N	1.000	N	1.04	L	0.47	T	-0.965	T	0.211	T	0.357	2.943	15.81	2.0	0.487	-0.454	3.297	0.160	0.0139127086188	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs768069661	7.53e-06	8.688e-05	6.812e-06	8.256e-06	9.899e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.899e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.017	0.64786	D	0.981	0.68779	D	0.77	0.65999	P	0.126267	0.02769	N	1.915940	1	0.08975	N	2.295	0.65404	M	0.44	0.57575	T	-1.52	0.51157	N	0.105	0.18649	-0.9651	0.38191	T	0.211	0.57134	T	9	0.07359043	0.11990	T	0.013913	0.33663	T	0.160	0.41473	0.167	0.07186	0.0846915920261	0.08053	0.2553416396724554	0.25448	0.235566991127	0.26085	0.326068282127	0.14340	T	0.032045	0.22312	T	-0.244567	0.14771	T	-0.363378	0.37660	T	0.256688277327145	0.23170	T	0.49905	0.36376	T	0.28358757	0.51390	0.2510205	0.50705	0.28358757	0.51390	0.2510205	0.50704	-4.084	0.25054	T	.	.	0.131	0.29004	B	.;.;.	.;.;.	2.654947	0.34573	19.67	0.99736852657666464	0.83192	0.04517	0.10144	N	AEFDI	0.143022	0.26562	N	-0.221500259265149	0.32253	1.816927	-0.35189881764483	0.26449	1.461059	0.00411306419695172	0.10422	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.27	2.0	0.25495	-0.453000	0.06853	-0.115000	0.11785	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.2112:0.5376:0.0:0.2512	3.297	0.06560	453	0.79178	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	128.88	67	chr7	100416308	.	C	G	128.88	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.008e+00;DP=1836;ExcessHet=0.6776;FS=205.333;InbreedingCoeff=-0.1450;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.612;SOR=11.906	GT:AD:DP:GQ:PL	0/1:47,26:73:73:73,0,571	14	0	4	3
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:56,0,59:115:99:0|1:100773849_CCAT_C:2309,2477,4823,0,2346,2168:100773849	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,59,0:115:99:0|1:100773849_CCAT_C:2309,0,2168,2477,2346,4823:100773849	0	11	5	0
chr7	100819562	100819562	C	T	exonic	EPHB4	.	nonsynonymous SNV	EPHB4:NM_004444:exon6:c.G1292A:p.R431Q,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.984	D	0.567	P	0.000	D	0.998	D	-0.385	N	0.69	T	-1.025	T	0.072	T	0.134	1.399	10.61	5.46	2.563	2.119	16.780	0.132	0.00454258667063	.	.	9.06e-06	0	0	0	0	0	0.0013	0	6.5e-06	1	154602	rs74779801	4.273e-06	4.788e-06	2.799e-06	5.8e-06	4.64e-06	1.54e-06	1.01e-06	1.36e-06	9.9e-07	0	0	0	0	1.956e-05	0	4.64e-06	0	0	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	1.0	0.00964	T	1.0	0.01155	T	0.984	0.60733	D	0.413	0.44885	B	0.000142	0.49130	D	0.000000	0.998212	0.44638	D	-0.445	0.02820	N	0.69	0.51714	T	1.93	0.00441	N	0.186	0.20262	-1.0250	0.22083	T	0.072	0.29291	T	10	0.06991157	0.10098	T	0.004543	0.11189	T	0.132	0.35948	0.34	0.33141	0.521978482128	0.51842	0.3612875509600573	0.36042	0.569716738074	0.53141	0.407445728779	0.26103	T	0.066958	0.33077	T	-0.205668	0.19993	T	-0.533204	0.18968	T	0.619259655475616	0.37175	D	0.844815	0.52285	T	0.12745142	0.29823	0.095643505	0.22692	0.12745142	0.29823	0.095643505	0.22691	-3.697	0.19274	T	0.12343182987437135	0.11961	0.103	0.19316	B	.;.	.;.	2.786649	0.36622	20.3	0.9743123735578566	0.33926	0.81969	0.41271	D	AEFDBI	0.249216	0.36949	N	-0.12749144407549	0.36197	2.089124	0.0181776272658777	0.40559	2.422504	0.999999998352416	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.46	5.46	0.80021	2.620000	0.46075	4.817000	0.45088	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.718000	0.34707	0.0:1.0:0.0:0.0	16.780	0.85423	691	0.58815	Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2393.98	33	chr7	100819562	.	C	T	2393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=909;ExcessHet=0.0000;FS=2.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-4.400e-01;SOR=0.884	GT:AD:DP:GQ:PL	0/1:97,100:197:99:2408,0,2147	20	0	1	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:398,137,61:596:99:0|1:100952942_T_G:4555,0,16300,3191,14151,19720:100952942	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:609,89,0:698:99:0|1:100952942_T_G:1904,0,25304,3737,25572,29309:100952942	6	0	14	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F,	.	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	8258.55	795	chr7	100953071	.	C	T	8258.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=3.74;DP=15016;ExcessHet=2.5830;FS=6.358;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=57.50;MQRankSum=-3.156e+00;QD=1.60;ReadPosRankSum=-2.712e+00;SOR=1.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:640,74:714:99:0|1:100952942_T_G:1181,0,26651:100952942	14	0	7	0
chr7	100953083	100953083	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1304A:p.T435N,	.	.	427	1053	42	0	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.138e-05	0.0029	1.486e-05	8.081e-06	1.475e-05	6.11e-06	4.46e-06	6.09e-06	4.41e-06	0	0	0	0	2.853e-05	0	1.294e-05	0	1.475e-05	2.978e-05	0.0051	5.866e-05	0	0.0004	4.94e-06	1.85e-06	.	.	6.829e-05	0	0	0	0.0004	0	0	0	0	0	.	.	.	0.28	0.21678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	0.05432555	0.05765	T	.	.	.	.	.	.	.	.	.	0.037030229045629026	0.03650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.40416	0.10358	T	.	.	.	.	.	.	.	.	-4.954	0.36336	T	.	.	0.167	0.36752	B	.;.	.;.	0.096276	0.04987	1.547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.748000	0.04924	-10.414000	0.00704	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.1053	2908.01	762	chr7	100953083	.	C	A	2908.01	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.50;DP=14857;ExcessHet=0.6776;FS=9.262;InbreedingCoeff=-0.1489;MLEAC=4;MLEAF=0.105;MQ=57.48;MQRankSum=-3.473e+00;QD=1.05;ReadPosRankSum=-3.709e+00;SOR=2.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:629,56:685:99:.:.:421,0,21184	15	0	4	2
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:381,68,124:573:99:0|1:100953112_T_A:4060,2351,18145,0,13143,15625:100953112	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:379,110,54:557:99:3478,0,15583,2351,13647,18103	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:385,32,0:417:99:.:.:99,0,15236,1243,15243,16765	5	0	9	4
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:395,182,0:650:99:.:.:6453,0,16038,7642,16586,24228	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:761,145,0:906:99:0|1:100953486_C_A:3798,0,31518,6089,31954,38043:100953486	2	0	17	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:939,68,0:1007:29:.:.:29,0,39224,2855,39428,42284	3	0	15	0
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:640,64,0:704:99:0|1:100954968_C_A:761,0,26681,2687,26873,29561:100954968	6	0	14	0
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:390,81,0:471:99:.:.:2227,0,16132,3401,16376,19777	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:394,80,20:494:99:.:.:2173,0,16303,2519,15704,19003	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:864,185,0:1049:99:0|1:100955912_C_T:5167,0,35722,7768,36279,44047:100955912	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:714,99,0:813:99:0|1:100955908_C_T:2008,0,29683,4157,29981,34138:100955908	4	0	15	0
chr7	100958135	100958135	T	0	exonic	MUC3A	.	.	.	.	.	80	0	58	87	1	233	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	24112.57	1331	chr7	100958135	.	T	C,*	24112.57	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=-1.492e+00;DP=16684;ExcessHet=5.3821;FS=1.190;InbreedingCoeff=0.0278;MLEAC=20,2;MLEAF=1.00,0.111;MQ=59.22;MQRankSum=-1.577e+00;QD=17.65;ReadPosRankSum=1.06;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,198,0:198:99:.:.:5744,590,0,5744,590,5744	0	3	5	12
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:353,280,0:633:99:0|1:100960582_T_A:10623,0,13765,11685,14608,26293:100960582	0	0	15	0
chr7	100999757	100999757	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C9194G:p.P3065R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	.	.	.	.	.	.	1.000	N	0	N	2.46	T	-0.948	T	0.019	T	0.122	-0.003	3.998	0.637	0.628	0.271	.	0.042	0.0157545969603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.81e-07	9.226e-06	0	1.968e-06	1.286e-06	0	0	.	.	0	0	0	0	0	0	1.286e-06	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.46	0.14907	T	-2.43	0.53258	N	0.097	0.14763	-0.9480	0.41313	T	0.019	0.07939	T	6	0.10929486	0.20383	T	0.015755	0.36670	T	0.042	0.11227	0.321	0.30064	0.124217242631	0.12060	0.0280833669782657	0.02758	.	.	0.479702055454	0.36015	T	0.013088	0.11383	T	-0.293122	0.09325	T	-0.658826	0.08346	T	0.145742782435546	0.16759	T	0.246275	0.03611	T	0.14199063	0.32694	0.28607905	0.54614	0.14199063	0.32694	0.28607905	0.54613	-8.637	0.65333	D	.	.	0.266	0.58369	B	.;.	.;.	1.517768	0.19489	14.29	0.80092725625617633	0.13041	0.01412	0.04773	N	AEFI	0.032360	0.03640	N	-0.94601811326872	0.09783	0.4645028	-1.10544665791306	0.07595	0.3700736	1.54836416551601E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	0.637	0.16907	0.349000	0.19801	0.868000	0.22289	0.225000	0.18106	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	75.15	53	chr7	100999757	.	C	G	75.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.188e+00;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.024;MQ=30.52;MQRankSum=0.340;QD=1.39;ReadPosRankSum=0.863;SOR=0.036	GT:AD:DP:GQ:PL	0/1:46,8:54:89:89,0,1640	20	0	1	0
chr7	101039818	101039818	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8402G:p.P2801R,	.	.	428	1091	3	0	0	3	0.001373	.	.	3379407	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.937	D	.	.	1.000	N	0.695	N	4.57	T	-0.929	T	0.010	T	0.074	-0.290	2.614	-0.989	-0.359	-0.428	4.029	0.045	0.000957552015421	.	.	.	.	.	.	.	.	.	.	0.0040341	105	26028	rs1004398115	3.454e-06	0.0029	2.749e-06	4.165e-06	3.628e-06	1.01e-06	7.4e-07	8.5e-07	5.7e-07	0	0	3.912e-05	0	0	0	3.628e-06	0	0	0.0002	0.0075	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	0	0.0003	0	0.0002	0	0	6.025e-05	0	0.0004	0.024	0.47745	D	.	.	.	0.994	0.66517	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	2.38	0.68558	M	4.57	0.01917	T	-1.58	0.38151	N	0.101	0.08366	-0.9294	0.44227	T	0.010	0.03856	T	9	0.18032071	0.33210	T	9.58E-4	0.00980	T	0.045	0.12272	0.196	0.10839	0.110078149338	0.10416	0.0014453802351999043	0.00133	.	.	0.246509730816	0.03409	T	0.033466	0.22927	T	-0.325489	0.06458	T	-0.705319	0.05540	T	0.118476174771786	0.14280	T	0.450755	0.12737	T	0.047618616	0.08168	0.05372311	0.09104	0.047618616	0.08167	0.05372311	0.09103	-6.882	0.53166	T	.	.	0.175	0.38372	B	.	.	1.157688	0.15464	11.87	0.31560487101999807	0.01785	0.00516	0.02410	N	AEFBI	0.041427	0.06297	N	-1.00578522340815	0.08482	0.3979146	-1.26687851502205	0.04886	0.2315516	1.0614227553124E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.989	0.09718	1.165000	0.31432	-11.132000	0.00632	0.305000	0.19019	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.577:0.2437:0.1793	4.029	0.09186	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	966.98	42	chr7	101039818	.	C	G	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=6158;ExcessHet=0.0000;FS=4.892;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.10;MQRankSum=-2.404e+01;QD=1.34;ReadPosRankSum=-8.864e+00;SOR=1.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:653,71:724:99:0|1:101039755_T_C:981,0,27071:101039755	20	0	1	0
chr7	101039821	101039821	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8405T:p.T2802I,	.	.	.	.	.	.	.	.	.	.	.	3379410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.984	D	0.86	P	.	.	1.000	N	-0.345	N	4.57	T	-0.987	T	0.006	T	0.056	-0.234	2.873	-2.2	-1.480	-0.228	1.490	0.116	0.000810206679381	.	.	.	.	.	.	.	.	.	.	0.0039573	103	26028	rs1476531915	3.112e-05	0.0019	2.753e-05	3.475e-05	0.0002	2.373e-05	2.118e-05	2.448e-05	1.395e-05	9.238e-05	6.8e-05	0.0001	7.617e-05	1.898e-05	0.0002	2.361e-05	8.443e-05	0	0.0001	0.0060	0.0001	0.0002	0.0005	8.836e-05	7.279e-05	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	3.096e-05	0	0.0005	0.295	0.14743	T	.	.	.	0.984	0.60733	D	0.86	0.61233	P	.	.	.	.	1	0.08975	N	1.95	0.52479	M	4.57	0.01917	T	-1.22	0.30964	N	0.019	0.00279	-0.9873	0.33273	T	0.006	0.02018	T	9	0.11276281	0.21161	T	8.1E-4	0.00649	T	0.116	0.32463	0.162	0.06618	0.0297737177859	0.01360	0.0020233505516249503	0.00187	.	.	0.279875069857	0.07474	T	0.017887	0.14518	T	-0.387816	0.02779	T	-0.794847	0.02034	T	0.0877820374227744	0.10952	T	0.318868	0.06391	T	0.023058346	0.01014	0.028823176	0.01156	0.023058346	0.01014	0.028823176	0.01156	-1.811	0.02542	T	.	.	0.112	0.22098	B	.	.	-0.470622	0.01962	0.169	0.59100985063581568	0.06145	0.00511	0.02393	N	AEFBI	0.048670	0.08329	N	-1.25154859993288	0.04279	0.1928245	-1.48585342014424	0.02460	0.1131742	3.46201242607147E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.2	0.06601	-0.149000	0.10189	-5.076000	0.01859	-1.801000	0.00624	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2013:0.4434:0.1988:0.1565	1.490	0.02307	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	180.98	42	chr7	101039821	.	C	T	180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.10;DP=6144;ExcessHet=0.0000;FS=4.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.22;MQRankSum=-2.298e+01;QD=0.26;ReadPosRankSum=-8.541e+00;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:649,52:701:99:0|1:101039755_T_C:195,0,26857:101039755	20	0	1	0
chr7	101041744	101041744	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C10328T:p.A3443V,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.998	D	0.986	D	.	.	1.000	N	0.345	N	4.51	T	-0.922	T	0.009	T	0.098	0.685	7.661	-0.18	-0.083	0.494	5.240	0.025	0.000630210962224	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187838914	8.893e-06	8.893e-06	8.168e-06	9.626e-06	0.0003	4.96e-06	3.82e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	9.892e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	.	.	.	0.998	0.73220	D	0.986	0.76916	D	.	.	.	.	1	0.08975	N	1.95	0.52479	M	4.51	0.02015	T	-0.4	0.13805	N	0.035	0.01004	-0.9218	0.45307	T	0.009	0.03359	T	9	0.13321212	0.25353	T	6.3E-4	0.00319	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.008620447237479534	0.00826	.	.	0.174514055252	0.00054	T	0.019119	0.15291	T	-0.320061	0.06892	T	-0.697522	0.05962	T	0.187659338116646	0.19706	T	0.335866	0.07168	T	0.0352521	0.04114	0.045473795	0.06126	0.0352521	0.04113	0.045473795	0.06126	-6.784	0.52440	T	.	.	0.153	0.33913	B	.	.	0.963806	0.13404	9.911	0.92448120361108388	0.21872	0.02509	0.07002	N	AEFBCI	0.039525	0.05754	N	-0.73908078957141	0.14931	0.7480895	-0.994381378679066	0.09911	0.4958878	9.64892687560604E-5	0.04910	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.882	-0.18	0.12643	1.066000	0.30215	-0.146000	0.11468	0.328000	0.19510	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.7586:0.0:0.2414	5.240	0.14784	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	9461.98	42	chr7	101041744	.	C	T	9461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.939e+00;DP=2340;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.653;SOR=0.693	GT:AD:DP:GQ:PL	0/1:394,360:754:99:9476,0,10820	20	0	1	0
chr7	102317219	102317219	G	A	exonic	SH2B2	.	nonsynonymous SNV	SH2B2:NM_001359228:exon7:c.G1219A:p.E407K	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.732	P	0.33	B	0.010	N	0.937	D	1.845	L	1.33	T	-0.806	T	0.147	T	0.35	4.824	27.4	5.02	2.332	8.568	17.329	0.159	0.0131566323141	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1056554988	1.372e-06	2.052e-06	1.364e-06	1.38e-06	5.988e-05	2.3e-07	9e-08	9.92e-06	3.71e-06	5.988e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.48080	T	.	.	.	.	.	.	0.009527	0.30318	N	0.366661	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	-0.8057	0.54807	T	0.147	0.47237	T	9	0.34384626	0.51389	T	0.013157	0.32344	T	0.159	0.41286	.	.	0.760246624658	0.75806	0.35128770051349156	0.35042	0.393599554858	0.40536	0.443405210972	0.31042	T	.	.	.	0.0284068	0.55511	T	-0.196972	0.54932	T	0.930855393409729	0.59583	D	0.838916	0.51225	T	.	.	.	.	.	.	.	.	-9.476	0.70710	D	.	.	0.090	0.12750	B	.	.	3.506122	0.49079	22.7	0.99805217456692474	0.88995	0.98626	0.84855	D	AEFDBCI	0.855444	0.77256	D	0.125916733529125	0.47674	2.989851	0.0884733918942544	0.43966	2.687665	0.99999999974289	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	5.02	5.02	0.66742	9.323000	0.95598	6.604000	0.56066	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	17.329	0.87146	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1023.98	34	chr7	102317219	.	G	A	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e-01;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=-1.388e+00;SOR=0.660	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1038,0,1418	20	0	1	0
chr7	103749490	103749490	C	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon6:c.G592A:p.D198N	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.008	B	0.007	B	0.000	N	0.713	D	1.67	L	1.82	T	-1.018	T	0.059	T	0.125	2.552	14.49	4.43	1.381	1.449	12.350	0.031	0.00680638755384	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160351268	1.028e-05	1.231e-05	1.227e-05	8.26e-06	1.351e-05	6.17e-06	4.89e-06	8.11e-06	6.43e-06	0	0	0	0	0	0	1.351e-05	0	0	6.574e-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	0.081	0.33585	T	0.021	0.58089	D	0.005	0.14655	B	0.003	0.12992	B	0.000119	0.50451	N	0.209872	0.71304	0.33538	D	1.67	0.42885	L	1.82	0.25018	T	-1.2	0.31981	N	0.261	0.29889	-1.0175	0.24528	T	0.059	0.24686	T	10	0.23203647	0.40191	T	0.006806	0.17982	T	0.031	0.07369	0.381	0.39807	0.502596446142	0.49897	0.4079680665134354	0.40712	0.181187604132	0.20376	0.498388648033	0.38604	T	0.069971	0.33844	T	-0.23486	0.16011	T	-0.575137	0.14982	T	0.363228619098663	0.27535	T	0.813119	0.46553	T	0.06348856	0.13372	0.054465856	0.09372	0.06348856	0.13372	0.054465856	0.09372	-3.914	0.22512	T	0.1833049256037372	0.23723	0.075	0.05623	B	.;.;.	.;.;.	2.374865	0.30480	18.45	0.99559002306460886	0.71645	0.75721	0.37089	D	AEFI	0.449096	0.50405	N	-0.176609935047438	0.34110	1.943049	-0.0235187608393639	0.38654	2.28053	0.0301481301017838	0.13925	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.31	4.43	0.52967	1.742000	0.37873	2.760000	0.34598	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.890000	0.42831	0.0:0.9203:0.0:0.0797	12.350	0.54471	780	0.47616	.;.;.	.	.	.	.	.	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	0.02381	640.98	33	chr7	103749490	.	C	T	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-5.180e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:56,26:82:99:655,0,1359	20	0	1	0
chr7	117780527	117780527	G	C	exonic	CTTNBP2	.	nonsynonymous SNV	CTTNBP2:NM_001363349:exon7:c.C2383G:p.P795A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.999	D	0.000	D	1.000	D	0.73	N	-0.92	T	-0.667	T	0.231	T	0.773	3.631	18.47	5.78	2.894	5.348	20.367	0.299	0.0389808889827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.043	0.49942	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.051136	0.99997	0.53665	D	0.825	0.20901	L	-0.92	0.75108	T	-3.02	0.62630	D	0.764	0.76203	-0.6671	0.61959	T	0.231	0.59670	T	10	0.9464903	0.93975	D	0.038981	0.58541	D	0.542	0.80901	0.893	0.97460	0.817961933652	0.81624	0.4320024326256959	0.43117	0.4781751199	0.46905	0.570503413677	0.48749	T	0.157955	0.50078	T	0.174491	0.71535	D	0.0128672	0.71167	D	0.874757327650635	0.52462	D	0.89741	0.64114	D	0.23891087	0.46775	0.29871723	0.55905	0.23891087	0.46775	0.29871723	0.55904	-7.667	0.58778	D	.	.	0.174	0.38135	B	.	.	3.856081	0.55889	23.7	0.99535519250107363	0.70150	0.97309	0.73941	D	AEFBI	0.650404	0.62452	D	0.409883904537802	0.61965	4.405019	0.532931889025253	0.70220	5.473109	0.999999972546017	0.74766	0.706298	0.61202	0	0.468601	0.06657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	5.420000	0.66180	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.367	0.98884	842	0.36989	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	64.18	67	chr7	117780527	.	G	C	64.18	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.225e+00;DP=1484;ExcessHet=0.0000;FS=437.898;InbreedingCoeff=-0.0349;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=0.853;SOR=9.269	GT:AD:DP:GQ:PL	0/1:61,35:96:78:78,0,940	20	0	1	0
chr7	124032406	124032408	GCT	-	exonic	TMEM229A	.	nonframeshift deletion	TMEM229A:NM_001136002:exon1:c.596_598del:p.Q200del,	.	.	414	602	321	84	101	590	0.288836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8600.32	36	chr7	124032402	.	CGCTGCT	C,CGCT	8600.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-6.570e-01;DP=1005;ExcessHet=0.9430;FS=4.707;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.410;SOR=0.923	GT:AD:DP:GQ:PL	0/2:12,2,16:30:99:636,594,1167,0,424,452	13	1	6	0
chr7	127704867	127704867	A	G	exonic	SND1	.	nonsynonymous SNV	SND1:NM_014390:exon8:c.A869G:p.K290R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.01	B	0.06	B	0.000	D	1.000	D	-0.075	N	1.58	T	-1.043	T	0.041	T	0.524	1.939	12.44	5.92	2.277	5.941	14.330	0.136	0.00483071388679	.	.	1.656e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs765696382	2.736e-06	2.736e-06	1.361e-06	4.126e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	0.02008	T	0.991	0.02359	T	0.01	0.15535	B	0.06	0.26717	B	0.000000	0.84330	D	0.087296	0.999999	0.58761	D	0.03	0.08032	N	1.58	0.29085	T	0.44	0.03243	N	0.321	0.36148	-1.0428	0.16473	T	0.041	0.17742	T	10	0.15071723	0.28502	T	0.004831	0.12098	T	0.136	0.36778	0.562	0.68229	0.588851629814	0.58560	0.5108367575240044	0.51005	0.546123088021	0.51614	0.824771165848	0.85760	D	0.038429	0.24835	T	-0.177535	0.24103	T	-0.385136	0.35121	T	0.409752309322357	0.29308	T	0.909409	0.67928	D	0.12738422	0.29811	0.12372313	0.29830	0.12738422	0.29811	0.12372313	0.29829	-4.937	0.36148	T	.	.	0.072	0.04119	B	.	.	3.364259	0.46465	22.3	0.9586884647698185	0.28041	0.98238	0.80821	D	AEFBI	0.850462	0.76730	D	-0.151375534389064	0.35176	2.017181	0.111798782865672	0.45151	2.783428	0.999999999859894	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	6.006000	0.70384	8.076000	0.76461	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.330	0.66109	450	0.79359	Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold	.	.	.	.	.	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	0.02381	1338.98	34	chr7	127704867	.	A	G	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.316;DP=772;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=0.669;SOR=0.690	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1353,0,936	20	0	1	0
chr7	128317663	128317663	C	T	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_001166135:exon12:c.G1361A:p.S454N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.005	B	0.006	B	0.000	D	0.979	D	0.4	N	2.98	T	-1.066	T	0.030	T	0.134	1.418	10.68	4.69	2.661	1.438	9.154	0.019	0.00727605550371	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206656307	0	2.737e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.57e-06	6.566e-06	1.285e-05	0	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.192	0.26085	T	0.53	0.11586	T	0.005	0.12996	B	0.006	0.12133	B	0.000046	0.53742	D	0.192179	0.979454	0.39563	D	0.61	0.15665	N	2.98	0.20808	T	-0.92	0.24676	N	0.135	0.24135	-1.0656	0.10409	T	0.030	0.12848	T	10	0.08119616	0.13264	T	0.007276	0.19307	T	0.019	0.03383	0.202	0.11659	0.156986980423	0.15292	0.1961015550995752	0.19527	0.136099042833	0.15346	0.441623598337	0.30799	T	0.007331	0.06742	T	-0.243791	0.14869	T	-0.587965	0.13843	T	0.529505610466003	0.33716	D	0.639136	0.25234	T	0.061925422	0.12878	0.09176123	0.21590	0.061925422	0.12878	0.09176123	0.21589	-7.674	0.58827	D	.	.	0.208	0.43503	B	.;.	.;.	2.446714	0.31499	18.76	0.91994633394727621	0.21328	0.72102	0.35304	D	AEFBI	0.082549	0.16716	N	-0.178512385284511	0.34029	1.937566	0.0391680661459885	0.41552	2.498231	0.992265363985007	0.32778	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	4.69	0.58546	2.081000	0.41220	1.742000	0.28408	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.8684:0.0:0.1316	9.154	0.36142	645	0.63593	RNA recognition motif domain;.	.	.	.	.	.	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	0.03125	36.02	36	chr7	128317663	.	C	T	36.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.230e+00;DP=781;ExcessHet=0.0000;FS=22.166;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=-1.303e+00;SOR=4.803	GT:AD:DP:GQ:PL	0/1:29,10:39:48:48,0,557	15	0	1	5
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.895	N	2.82	T	-0.911	T	0.159	T	0.493	-1.114	0.131	-3.33	-0.521	-0.728	3.406	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3229.78	206	chr7	128479325	.	T	C	3229.78	.	AC=9;AF=0.300;AN=30;BaseQRankSum=2.39;DP=4419;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4018;MLEAC=11;MLEAF=0.367;MQ=57.67;MQRankSum=-1.368e+01;QD=1.57;ReadPosRankSum=-3.614e+00;SOR=5.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,21:237:99:0|1:128479325_T_C:212,0,8947:128479325	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.345	N	2.87	T	-0.882	T	0.184	T	0.33	-1.681	0.012	-0.54	0.001	-0.407	1.070	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3281.73	207	chr7	128479326	.	G	C	3281.73	.	AC=9;AF=0.300;AN=30;BaseQRankSum=1.60;DP=4446;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4190;MLEAC=11;MLEAF=0.367;MQ=57.73;MQRankSum=-1.377e+01;QD=1.60;ReadPosRankSum=-3.844e+00;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,21:237:99:0|1:128479325_T_C:212,0,8947:128479325	6	0	9	6
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	1/2:0,18,32:50:99:2088,1340,1352,750,0,654	5	3	3	0
chr7	134933632	134933632	T	C	exonic	CALD1	.	nonsynonymous SNV	CALD1:NM_033138:exon5:c.T863C:p.I288T,	.	.	388	1133	1	0	0	1	0.000441112	.	.	3302514	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.007	B	0.011	B	0.414	N	1.000	N	0.69	N	0.96	T	-1.033	T	0.064	T	0.106	0.839	8.387	1.09	0.639	-0.260	2.429	0.037	0.00980306763966	.	.	0.0001	0.0001	0.0001	0.0005	0	2.11e-05	0	0.0003	6.47e-05	10	154602	rs781302656	4.182e-05	4.173e-05	3.135e-05	5.24e-05	0.0038	3.317e-05	3.007e-05	0.0026	0.0022	0	0	0	0.0002	1.879e-05	0.0038	3.602e-06	9.947e-05	0.0002	2.635e-05	2.627e-05	0	5.395e-05	0.0004	8.16e-06	5.15e-06	7.341e-05	3.048e-05	0	0	0	0	0.0004	0	0	0	0	0.0004	0.022	0.48642	D	0.59	0.08217	T	0.007	0.14184	B	0.011	0.15521	B	0.413769	0.04607	N	1.441380	1	0.08975	N	1.39	0.34934	L	0.96	0.42888	T	-0.3	0.11913	N	0.151	0.15469	-1.0332	0.19427	T	0.064	0.26597	T	9	0.034806788	0.01703	T	0.009803	0.25563	T	0.037	0.09474	0.487	0.57098	0.158540857583	0.15491	0.013478634088548798	0.01305	0.186432944156	0.20951	0.428651809692	0.29024	T	0.217316	0.57973	T	-0.491746	0.00636	T	-0.633617	0.10141	T	0.00677375200573242	0.00076	T	0.50025	0.15636	T	0.028400328	0.02172	0.039289877	0.03988	0.028400328	0.02171	0.039289877	0.03987	-3.947	0.23008	T	.	.	0.087	0.11317	B	.	.	1.647502	0.21022	15.02	0.84659145093805876	0.15421	0.08620	0.14524	N	AEFDBI	.	.	.	-0.839990573048808	0.12297	0.5985358	-0.813668139641871	0.14165	0.7387186	0.999805278406547	0.43304	0.732398	0.92422	0	0.449817	0.06596	2	0.743671	0.96076	0	0.735409	0.98432	0	.	.	4.75	1.09	0.19517	-0.273000	0.08580	0.640000	0.20311	0.665000	0.62972	0.000000	0.06391	0.005000	0.19230	0.992000	0.67800	0.2169:0.2402:0.0:0.5429	2.429	0.04195	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	876.98	52	chr7	134933632	.	T	C	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.090;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=-5.070e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:26,34:60:99:891,0,681	20	0	1	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	0/1:28,32,0,0:60:99:1197,0,1034,1281,1131,2412,1281,1131,2412,2412	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	0/1:28,32,0,0:60:99:1197,0,1034,1281,1131,2412,1281,1131,2412,2412	0	16	2	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,16:95:99:0|1:143478290_A_G:129,0,2711:143478290	3	0	18	0
chr7	144267145	144267145	T	G	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.A2106C:p.R702S	.	.	451	1070	1	0	0	1	0.000467071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.009	B	0.022	B	.	.	1.000	N	.	.	3.25	T	-0.936	T	0.008	T	0.071	-0.936	0.368	.	-1.811	0.728	.	0.046	0.727580549847	.	.	.	.	.	.	.	.	.	.	0.0034578	90	26028	rs1169136753	0.0005	0.0008	0.0005	0.0005	0.0031	0.0004	0.0004	0.0026	0.0024	0.0031	0.0003	0	0.0006	1.94e-05	0	0.0004	0.0005	0.0010	0.0010	0.0014	0.0010	0.0010	0.0027	0.0009	0.0008	0.0023	0.0021	0.0027	0	0.0003	0	0.0004	0	0	0.0004	0.0020	0.0009	0.137	0.25979	T	0.783	0.04288	T	0.009	0.15093	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	2.81	0.81869	M	3.25	0.06762	T	-2.42	0.53096	N	0.155	0.16028	-0.9361	0.43226	T	0.008	0.02968	T	6	0.09432128	0.16761	T	0.727581	0.97804	D	0.046	0.12618	0.322	0.30226	0.0551355673512	0.04727	0.3721818714081183	0.37132	.	.	0.475766330957	0.35474	T	0.116992	0.43674	T	-0.332323	0.05938	T	-0.715135	0.05033	T	0.0265031836600452	0.01474	T	.	.	.	0.20774546	0.42990	0.15991935	0.37272	0.20774546	0.42990	0.15991935	0.37272	-4.718	0.33622	T	.	.	0.175	0.38300	B	.	.	0.661331	0.10298	7.030	0.37538192384511321	0.02479	0.01715	0.05438	N	AEFI	0.064877	0.12623	N	-1.5652817813879	0.01447	0.06314522	-1.65249958744843	0.01363	0.06155139	1.13847132622797E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	.	.	.	0.110000	0.15273	-0.058000	0.12460	-2.532000	0.00253	0.984000	0.35821	0.000000	0.08366	0.001000	0.02609	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	270.71	63	chr7	144267145	.	T	G	270.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.208e+00;DP=845;ExcessHet=0.0000;FS=23.633;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=35.22;MQRankSum=-2.999e+00;QD=4.10;ReadPosRankSum=-1.364e+00;SOR=3.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,12:66:99:0|1:144267142_T_A:284,0,2226:144267142	18	0	1	2
chr7	144372732	144372732	C	G	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon9:c.C4025G:p.T1342R,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	1.84	L	-0.01	T	-0.238	T	0.394	T	0.722	2.993	15.98	5.1	2.369	2.356	15.998	0.118	0.0401798215665	.	.	0.0002	0	0	0	0	0.0003	0	0.0001	7.68e-05	2	26028	rs768010897	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	3.823e-05	0.0001	0	0	1.981e-05	0.0004	0.0002	0.0003	7.667e-05	0.0002	0.0002	0.0001	0.0003	0.0004	0.0001	0.0001	0.0003	0.0002	0	0	6.895e-05	0	0	0	0	0.0004	0.0005	0	0.01	0.56456	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.054020	0.999992	0.58761	D	1.82	0.47800	L	-0.01	0.62762	T	-5.36	0.85844	D	0.49	0.55106	-0.2382	0.76673	T	0.394	0.74721	T	10	0.41921288	0.56749	T	0.04018	0.59230	D	0.305	0.62620	.	.	0.587478218395	0.58422	0.5223530329725662	0.52158	.	.	0.645584642887	0.59358	T	0.345795	0.71414	T	0.109271	0.65277	D	-0.0808165	0.64845	T	0.425621330738068	0.29898	T	0.780822	0.41876	T	0.764501	0.81719	0.72425485	0.83713	0.764501	0.81721	0.72425485	0.83714	-12.786	0.90165	D	.	.	0.356	0.56959	A	.;.	.;.	4.316411	0.66020	24.9	0.99321492286897295	0.59393	0.96262	0.68285	D	AEFI	0.479551	0.52165	N	0.50828902998641	0.67579	5.100445	0.450848356199175	0.64771	4.740147	0.023392052881178	0.13504	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.1	5.1	0.68917	2.374000	0.43929	5.919000	0.51137	0.599000	0.40250	0.975000	0.34726	1.000000	0.68203	0.741000	0.35472	0.0:1.0:0.0:0.0	15.998	0.80063	952	0.10565	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	250.33	33	chr7	144372732	.	C	G	250.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.58;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=30.09;MQRankSum=0.074;QD=2.61;ReadPosRankSum=0.070;SOR=0.772	GT:AD:DP:GQ:PL	0/1:78,18:96:99:264,0,2016	19	0	1	1
chr7	149892335	149892335	A	G	exonic	ACTR3C	.	nonsynonymous SNV	ACTR3C:NM_001351027:exon3:c.T173C:p.V58A	.	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113818	.	.	.	.	.	.	.	.	0.0005886	91	154602	rs200817159	0.0049	0.0049	0.0034	0.0063	0.0519	0.0048	0.0047	0.0507	0.0501	0.0003	0.0012	0.0002	5.08e-05	0.0002	0.0092	0.0020	0.0048	0.0519	0.0031	0.0031	0.0025	0.0038	0.0538	0.0029	0.0028	0.0483	0.0461	0.0008	0	0.0026	0	0	0	0.0035	0.0020	0.0049	0.0538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3735.11	118	chr7	149892335	.	A	G	3735.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.88;DP=2296;ExcessHet=0.1072;FS=4.484;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.05;MQRankSum=1.60;QD=12.45;ReadPosRankSum=-1.000e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/1:86,76:162:99:2069,0,2128	19	0	2	0
chr7	151987209	151987209	G	A	exonic	GALNTL5	.	nonsynonymous SNV	GALNTL5:NM_145292:exon5:c.G586A:p.V196I,	.	.	424	1073	25	0	0	25	0.0115154	.	.	699950	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.651	N	1.000	N	0.655	N	0.32	T	-1.058	T	0.049	T	0.1	-0.770	0.760	-2.27	-0.480	0.325	5.790	0.065	.	0.0039	0.00439297	0.0060	0.0014	0.0057	0	0.0326	0.0056	0.0223	0.0023	0.0054721	846	154602	rs75797831	0.0048	0.0048	0.0047	0.0048	0.0218	0.0047	0.0047	0.0187	0.0176	0.0027	0.0058	0.0100	0	0.0272	0.0218	0.0038	0.0067	0.0021	0.0067	0.0067	0.0053	0.0083	0.0125	0.0064	0.0063	0.0110	0.0105	0.0022	0	0.0125	0.0127	0.0002	0.0312	0.0578	0.0046	0.0147	0.0006	0.736	0.03741	T	0.481	0.11864	T	0.0	0.02946	B	0.001	0.04355	B	0.650717	0.10516	N	0.794352	1	0.08975	N	0.25	0.09762	N	0.32	0.58468	T	-0.18	0.09796	N	0.17	0.18103	-1.0575	0.12388	T	0.049	0.20868	T	10	0.0029007494	0.00046	T	.	.	.	0.065	0.18881	.	.	0.0716867268079	0.06686	0.21243792671788078	0.21159	0.0131421107814	0.01263	0.443033277988	0.30992	T	0.02318	0.17738	T	-0.596371	0.00153	T	-0.627088	0.10637	T	0.000909475795523295	0.00009	T	0.213579	0.02626	T	0.03933567	0.05411	0.029268753	0.01247	0.03933567	0.05410	0.029268753	0.01247	-5.203	0.38972	T	.	.	0.069	0.03128	B	.;.;.	.;.;.	0.252014	0.06311	2.771	0.49594697566440277	0.04237	0.06287	0.12280	N	AEFBI	0.027220	0.02186	N	-1.05306339950596	0.07527	0.3499839	-1.02327320597336	0.09274	0.4604767	1.76016303714589E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	4.3	-2.27	0.06458	0.341000	0.19652	-0.002000	0.13189	-0.087000	0.16196	0.841000	0.30301	0.000000	0.08366	0.988000	0.63387	0.4104:0.1574:0.4322:0.0	5.790	0.17617	643	0.63827	Glycosyltransferase 2-like;Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	466.98	38	chr7	151987209	.	G	A	466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.91;ReadPosRankSum=0.562;SOR=0.784	GT:AD:DP:GQ:PL	0/1:38,21:59:99:481,0,858	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	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	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:177,50:227:99:668,0,5722	4	0	17	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L,	.	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.005	B	0.006	B	0.001	D	1.000	D	0.895	L	-1.76	D	-0.782	T	0.290	T	0.172	1.461	10.83	3.05	1.220	0.832	9.075	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	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	0.07143	208.62	107	chr7	152235831	.	C	G	208.62	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.229;DP=1903;ExcessHet=0.3300;FS=7.943;InbreedingCoeff=-0.0717;MLEAC=2;MLEAF=0.048;MQ=50.91;MQRankSum=-2.006e+00;QD=0.78;ReadPosRankSum=-1.391e+00;SOR=1.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,9:87:6:.:.:6,0,3098	18	0	3	0
chr8	491580	491580	T	G	exonic	TDRP	.	nonsynonymous SNV	TDRP:NM_001256113:exon4:c.A589C:p.K197Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.703	P	0.238	B	.	.	1.000	N	.	.	.	.	-1.047	T	0.065	T	0.09	2.874	15.58	1.38	0.455	0.342	6.364	0.031	0.0208139864316	.	0.000399361	0.0007	0	0	0	.	0.0008	0	0.0007	0.0002975	46	154602	rs546625541	0.0021	0.0020	0.0021	0.0022	0.0025	0.0021	0.0021	0.0024	0.0024	0.0004	0.0002	0.0003	0	0.0010	0.0002	0.0025	0.0013	0.0010	0.0016	0.0016	0.0018	0.0013	0.0031	0.0014	0.0013	0.0028	0.0027	0.0004	0	0.0002	0	0	9.413e-05	0	0.0031	0.0005	0.0008	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.09	0.08340	N	0.1	0.08227	-1.0470	0.15246	T	0.065	0.26878	T	7	0.0066894293	0.00152	T	0.020814	0.43476	T	0.031	0.07369	.	.	0.158396225186	0.15383	0.04042412803118026	0.03988	0.00580428059586	0.00509	0.410421580076	0.26515	T	.	.	.	-0.537605	0.00346	T	-0.549624	0.17362	T	0.0425309764877069	0.04152	T	0.265273	0.04325	T	.	.	.	.	.	.	.	.	-3.651	0.18597	T	.	.	0.100	0.17016	B	.;.	.;.	0.154286	0.05459	1.928	0.96548669056049163	0.30215	0.03769	0.09084	N	AEBI	0.056460	0.10439	N	-0.512301661025838	0.21682	1.152427	-0.63589164634133	0.18573	0.9927986	0.990776375348532	0.32265	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.620846	0.47308	0	.	.	5.45	1.38	0.21262	-0.384000	0.07447	1.178000	0.24674	0.665000	0.62972	0.000000	0.06391	0.877000	0.27660	0.272000	0.23818	0.149:0.0:0.3097:0.5413	6.364	0.20648	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1049.98	41	chr8	491580	.	T	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=792;ExcessHet=0.0000;FS=3.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-8.900e-02;SOR=1.126	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1064,0,1039	20	0	1	0
chr8	6439052	6439052	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172574:exon6:c.G536A:p.R179K	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.994	D	0.000	D	1.000	D	2.74	M	2.86	T	-0.969	T	0.124	T	0.429	3.285	17.03	5.5	2.741	5.964	17.264	0.181	0.0225692198484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999719	0.81001	D	2.585	0.75554	M	2.86	0.13434	T	-1.66	0.44657	N	0.646	0.76481	-0.9685	0.37510	T	0.124	0.42799	T	10	0.60396415	0.67069	D	0.022569	0.45471	T	0.181	0.45247	0.232	0.16005	0.669386746705	0.66659	0.4669121289294924	0.46610	.	.	0.407298445702	0.26083	T	0.346928	0.71512	T	-0.0843929	0.38997	T	-0.359001	0.38168	T	0.93335622549057	0.60005	D	.	.	.	0.45933947	0.64629	0.41183105	0.65403	0.45933947	0.64630	0.41183105	0.65403	-9.541	0.71114	D	.	.	0.236	0.46983	B	.;.	.;.	4.240921	0.64293	24.7	0.99465292039328934	0.66049	0.95370	0.64455	D	AEFBI	0.490283	0.52783	N	0.648766155877296	0.76290	6.459061	0.540307966424217	0.70725	5.547713	0.999999998757797	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.5	5.5	0.81386	6.422000	0.73266	9.541000	0.80962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.264	0.86967	975	0.05339	.;.	.	.	.	.	.	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	0.07143	103.68	67	chr8	6439052	.	G	A	103.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.700e+00;DP=1145;ExcessHet=0.3300;FS=99.365;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=0.848;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,14:74:66:0|1:6439052_G_A:66,0,1847:6439052	18	0	3	0
chr8	8377353	8377364	GCCGCTGCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1056del:p.S349_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1275152506	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	0	7.61e-05	0	0	3.646e-05	0.0005	0.0001	0.0017	0.0017	0.0017	0.0017	0.0059	0.0015	0.0015	0.0053	0.0050	0.0059	0	0.0004	0	0	9.557e-05	0	7.393e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:56,0,50:106:99:1912,2081,4427,0,2347,2195	7	0	1	0
chr8	8377359	8377364	GCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1050del:p.S351_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0072	0.0009	0.0003	0.0003	5.986e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:56,0,50:106:99:1912,2081,4427,0,2347,2195	7	0	1	0
chr8	10529573	10529573	C	T	exonic	PRSS55	.	nonsynonymous SNV	PRSS55:NM_001197020:exon2:c.C221T:p.A74V	.	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	.	.	0.982	D	1.08	L	-3.42	D	0.686	D	0.821	D	0.468	2.771	15.23	3.18	1.291	1.921	8.056	0.630	0.195434679622	0.0002	0.000199681	0.0001	9.61e-05	0	0	0.0002	0.0002	0	6.056e-05	0.0001229	19	154602	rs144558050	0.0001	0.0001	0.0001	0.0001	0.0029	0.0001	0.0001	0.0019	0.0015	8.961e-05	0.0001	0.0005	0	7.488e-05	0.0029	0.0001	0.0003	5.797e-05	8.538e-05	8.53e-05	0.0001	5.373e-05	0.0002	4.955e-05	3.961e-05	4.766e-05	3.339e-05	2.407e-05	0	6.534e-05	0.0003	0.0002	0	0.0034	0.0001	0.0005	0	0.001	0.78490	D	0.121	0.36365	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.981638	0.39799	D	2.12	0.58754	M	-3.42	0.94348	D	-2.96	0.62747	D	0.254	0.28732	0.686	0.92999	D	0.821	0.93976	D	9	0.15608734	0.29404	T	0.195435	0.86421	D	0.630	0.85769	.	.	0.618726512964	0.61563	0.6270797257239591	0.62640	0.00282128093955	0.00241	0.386982083321	0.23243	T	0.299813	0.67233	T	-0.0211373	0.48691	T	-0.0314702	0.68270	D	0.197159290313721	0.20258	T	0.662434	0.27137	T	0.24253187	0.47182	0.30196688	0.56228	0.24253187	0.47182	0.30196688	0.56228	-6.365	0.49665	T	.	.	0.538	0.69922	A	.;.	.;.	3.546895	0.49836	22.8	0.99814511374280945	0.89797	0.76127	0.37314	D	AEFDBI	0.181931	0.30925	N	0.04604608441008	0.43961	2.678937	-0.040270661552121	0.37915	2.226451	0.173883976295024	0.17775	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.05	3.18	0.35615	3.110000	0.50045	3.583000	0.39163	-0.173000	0.11020	0.990000	0.36992	0.999000	0.35428	0.005000	0.06747	0.0:0.8904:0.0:0.1096	8.056	0.29765	894	0.26265	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2568.98	35	chr8	10529573	.	C	T	2568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=917;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.112;SOR=0.730	GT:AD:DP:GQ:PL	0/1:100,108:208:99:2583,0,2182	20	0	1	0
chr8	10608750	10608750	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C5348T:p.A1783V,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	312196	Occult_macular_dystrophy	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.001	B	0.0	B	.	.	1.000	N	0.345	N	3.88	T	-0.944	T	0.006	T	0.048	-1.773	0.010	-6.84	-2.810	-7.681	4.317	0.008	0.00332291567661	8e-05	0.000399361	0.0002	0	0	0	0	1.498e-05	0	0.0015	0.0001876	29	154602	rs374403002	8.209e-05	8.209e-05	6.942e-05	9.488e-05	0.0010	7.002e-05	6.552e-05	0.0009	0.0008	2.987e-05	2.236e-05	0	0	0	0	1.709e-05	0.0002	0.0010	9.196e-05	9.188e-05	7.712e-05	0.0001	0.0021	5.526e-05	4.363e-05	0.0011	0.0009	7.223e-05	0	0	0	0	0	0	1.47e-05	0	0.0021	1.0	0.00964	T	0.303	0.20164	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.88	0.03570	T	-0.25	0.11008	N	0.067	0.03956	-0.9438	0.42009	T	0.006	0.01944	T	9	0.009238869	0.00209	T	0.003323	0.07390	T	0.008	0.00669	.	.	0.0138822411134	0.00435	0.04750982101979302	0.04693	.	.	0.186014384031	0.00162	T	.	.	.	-0.724619	0.00026	T	-0.864082	0.00800	T	0.0172679783159195	0.00468	T	0.343166	0.07474	T	0.019504359	0.00482	0.036488973	0.03107	0.019504359	0.00482	0.036488973	0.03107	-4.068	0.24817	T	.	.	0.082	0.08609	B	.	.	-1.363355	0.00387	0.007	0.1027266082527646	0.00125	0.00337	0.01752	N	AEFBI	0.027555	0.02273	N	-2.34611509784462	0.00036	0.001538078	-2.44488650397767	0.00031	0.001364217	0.2725058269744	0.18906	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.42	-6.84	0.01527	-5.986000	0.00105	-7.756000	0.01092	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2282:0.2099:0.4576:0.1043	4.317	0.10441	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	2405.98	135	chr8	10608750	.	G	A	2405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.870e+00;DP=2352;ExcessHet=0.0000;FS=1.079;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.879;SOR=0.596	GT:AD:DP:GQ:PL	0/1:108,98:206:99:2420,0,2855	20	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,47:282:99:0|1:10609943_C_T:388,0,8159:10609943	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,115,0:263:99:0|1:10609943_C_T:1916,0,3658,2353,3983,6336:10609943	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,115,0:263:99:0|1:10609943_C_T:1916,0,3658,2353,3983,6336:10609943	0	0	15	4
chr8	10609951	10609951	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4147A:p.G1383R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.198	B	0.011	B	.	.	1.000	N	0	N	3.32	T	-0.919	T	0.008	T	0.061	1.041	9.254	0.493	0.514	0.182	6.300	0.042	0.00104700276164	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1241200968	1.373e-06	1.368e-06	1.366e-06	1.38e-06	9.023e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.023e-07	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23271	T	0.332	0.18449	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.19	0.09965	N	0.119	0.10911	-0.9193	0.45648	T	0.008	0.02926	T	9	0.06530404	0.08790	T	0.001047	0.01191	T	0.042	0.11227	0.093	0.01151	0.227934060464	0.22382	0.06617811075894292	0.06556	.	.	0.210635006428	0.00839	T	0.036921	0.24283	T	-0.370796	0.03554	T	-0.770399	0.02755	T	0.0498094043114612	0.05467	T	0.492651	0.15191	T	0.07411346	0.16608	0.08802469	0.20498	0.07411346	0.16608	0.08802469	0.20497	-5.685	0.43560	T	.	.	0.183	0.39714	B	.	.	0.141494	0.05351	1.837	0.68275787782793262	0.08608	0.04812	0.10535	N	AEFDBI	0.030897	0.03197	N	-1.14382275890809	0.05882	0.2693335	-1.22974974199479	0.05437	0.2590894	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	0.846000	0.27335	0.099000	0.14623	-0.342000	0.05666	0.004000	0.16614	0.001000	0.17328	0.003000	0.05239	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	304.98	170	chr8	10609951	.	C	T	304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.704e+00;DP=4744;ExcessHet=0.0000;FS=132.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.77;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,46:299:99:0|1:10609943_C_T:319,0,8599:10609943	20	0	1	0
chr8	10611454	10611454	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C2644T:p.R882W,	Occult macular dystrophy, Autosomal dominant	.	0	1505	17	0	0	17	0.00561612	.	.	307388	Occult_macular_dystrophy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.002	B	0.001	B	.	.	1.000	N	0	N	3.66	T	-0.911	T	0.006	T	0.061	3.418	17.55	-10.2	-2.316	-1.088	0.220	0.113	.	0.0027	0.000798722	0.0036	0.0004	0.0041	0	0.0015	0.0058	0.0129	0.0011	0.0020051	310	154602	rs148936402	0.0030	0.0030	0.0031	0.0030	0.0044	0.0030	0.0029	0.0031	0.0031	0.0004	0.0028	0.0130	2.647e-05	0.0002	0.0044	0.0032	0.0032	0.0012	0.0026	0.0026	0.0026	0.0026	0.0037	0.0024	0.0023	0.0033	0.0032	0.0009	0	0.0024	0.0144	0	9.406e-05	0.0204	0.0037	0.0052	0.0012	0.002	0.72154	D	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.39	0.34934	L	3.66	0.04228	T	-1.53	0.37178	N	0.091	0.06990	-0.9115	0.46670	T	0.006	0.01870	T	9	0.0049188137	0.00105	T	.	.	.	0.113	0.31778	.	.	0.12205267543	0.11705	0.1951453495505809	0.19431	.	.	0.232301712036	0.02143	T	0.064561	0.32465	T	-0.719989	0.00028	T	-0.810042	0.01664	T	0.0417623311844674	0.04011	T	0.39926	0.10144	T	0.037631847	0.04862	0.039601736	0.04092	0.037631847	0.04862	0.039601736	0.04091	-5.167	0.38604	T	0.07212204489980628	0.02931	0.140	0.30713	B	.	.	0.302575	0.06781	3.300	0.99164774652686805	0.54212	0.00425	0.02093	N	AEFDBI	0.042938	0.06725	N	-1.66765494603192	0.00963	0.04172438	-1.77872161670099	0.00830	0.03705504	0.983389003906396	0.30551	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.11	-10.2	0.00305	-0.551000	0.06117	-2.721000	0.03430	-1.378000	0.01162	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2056:0.2404:0.2206:0.3333	0.220	0.00155	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	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	0.02381	916.98	48	chr8	10611454	.	G	A	916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=1033;ExcessHet=0.0000;FS=5.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.81;ReadPosRankSum=0.747;SOR=0.267	GT:AD:DP:GQ:PL	0/1:23,35:58:99:931,0,519	20	0	1	0
chr8	10622865	10622865	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C337T:p.P113S,	Occult macular dystrophy, Autosomal dominant	.	1	1498	23	0	0	23	0.00761842	.	.	303921	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.073	B	0.045	B	.	.	1.000	N	-0.205	N	-2.17	D	-0.820	T	0.286	T	0.127	0.292	5.580	-3.47	-0.664	-0.189	3.123	0.144	.	0.0002	0.00399361	0.0026	0.0001	0.0005	0	0	0.0004	0.0081	0.0157	0.0021863	338	154602	rs201245739	0.0012	0.0012	0.0007	0.0017	0.0163	0.0011	0.0011	0.0156	0.0153	5.977e-05	0.0001	0.0011	2.52e-05	0	0.0042	0.0002	0.0013	0.0163	0.0007	0.0007	0.0006	0.0008	0.0145	0.0006	0.0006	0.0118	0.0108	7.22e-05	0	0.0005	0.0014	0	0	0	0.0003	0.0019	0.0145	0.143	0.25355	T	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	-2.17	0.86624	D	-2.1	0.47852	N	0.183	0.19861	-0.8200	0.53933	T	0.286	0.65744	T	9	0.00442034	0.00090	T	.	.	.	0.144	0.38394	.	.	0.254244900254	0.25046	0.18994679781171653	0.18912	.	.	0.310086578131	0.11920	T	0.136786	0.46936	T	-0.470472	0.00844	T	-0.435603	0.29302	T	0.0063750555654631	0.00071	T	0.624238	0.24084	T	0.03854926	0.05157	0.071921706	0.15456	0.03854926	0.05156	0.071921706	0.15456	-3.485	0.16223	T	0.14979248067906134	0.17545	0.091	0.12891	B	.	.	0.676226	0.10444	7.166	0.49772977628815207	0.04268	0.05439	0.11314	N	AEFDBI	0.081127	0.16412	N	-1.17843439872053	0.05326	0.2425605	-1.22491323184172	0.05512	0.262831	0.0171898468307943	0.12922	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.74	-3.47	0.04452	-0.236000	0.09019	1.009000	0.23318	0.674000	0.70861	0.000000	0.06391	0.097000	0.22620	0.104000	0.18471	0.4664:0.103:0.3164:0.1143	3.123	0.06012	778	0.48011	Doublecortin 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	0.07143	3412.68	38	chr8	10622865	.	G	A	3412.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.94;DP=910;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-2.280e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:41,34:75:99:856,0,1138	18	0	3	0
chr8	17560458	17560458	C	T	exonic	SLC7A2	.	nonsynonymous SNV	SLC7A2:NM_001008539:exon9:c.C1429T:p.R477W	.	.	424	1097	1	0	0	1	0.000455581	.	.	2352848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.933	P	0.368	B	0.061	N	1.000	N	1.525	L	-2.31	D	-0.335	T	0.535	D	0.266	0.901	8.661	2.38	0.274	3.325	9.316	0.234	0.107341904516	7.7e-05	.	4.942e-05	9.61e-05	0	0	0	4.495e-05	0	0.0001	3.88e-05	6	154602	rs377088674	5.199e-05	5.404e-05	4.901e-05	5.501e-05	0.0002	4.159e-05	3.888e-05	0.0001	9.45e-05	8.963e-05	0	3.826e-05	0	5.616e-05	0.0002	4.407e-05	4.969e-05	0.0002	9.201e-05	9.193e-05	7.708e-05	0.0001	0.0004	5.529e-05	4.366e-05	7.293e-05	4.24e-05	4.826e-05	0	6.548e-05	0	0	0	0	0.0001	0.0005	0.0004	0.028	0.46129	D	0.058	0.49663	T	0.933	0.52105	P	0.368	0.43478	B	0.060837	0.22218	N	0.525299	0.999977	0.18612	N	2.085	0.57729	M	-2.31	0.88997	D	-2.83	0.59710	D	0.228	0.34659	-0.3346	0.74000	T	0.535	0.82772	D	10	0.22235084	0.38985	T	0.107342	0.78338	D	0.234	0.53644	.	.	0.902272632983	0.90129	0.4772423327217984	0.47644	0.0919996188476	0.10386	0.193662106991	0.00297	T	0.372751	0.73687	T	-0.145035	0.29092	T	-0.20944	0.53748	T	0.116805475910438	0.14114	T	0.446455	0.13375	T	0.050409287	0.09101	0.040762257	0.04479	0.050409287	0.09101	0.040762257	0.04479	-8.129	0.63512	D	.	.	0.107	0.25100	B	.;.;.;.;.;.	.;.;.;.;.;.	2.454477	0.31607	18.79	0.96389213462464496	0.29647	0.90396	0.51538	D	AEFBCI	0.535336	0.55400	D	-0.524972849016933	0.21274	1.127854	-0.542769022928607	0.20997	1.133879	0.776188170113814	0.23756	0.736574	0.97449	0	0.573888	0.26702	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.27	2.38	0.28415	3.533000	0.53317	0.005000	0.13351	-0.173000	0.11020	0.988000	0.36536	0.000000	0.08366	0.001000	0.02609	0.2583:0.6739:0.0:0.0679	9.316	0.37099	842	0.36989	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1008.98	36	chr8	17560458	.	C	T	1008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.149;DP=776;ExcessHet=0.0000;FS=0.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=1.29;SOR=0.523	GT:AD:DP:GQ:PL	0/1:32,39:71:99:1023,0,778	20	0	1	0
chr8	18801311	18801311	T	C	exonic	PSD3	.	nonsynonymous SNV	PSD3:NM_206909:exon4:c.A380G:p.N127S	.	.	461	1060	1	0	0	1	0.000471476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.155	B	0.065	B	0.000	D	1.000	D	0.08	N	0.59	T	-0.949	T	0.096	T	0.168	2.074	12.89	5.79	2.202	2.064	14.085	0.055	0.0109250127665	0.0003	.	0.0003	9.858e-05	0.0002	0	0	0.0005	0	0	0.0002781	43	154602	rs142157563	0.0003	0.0003	0.0003	0.0003	0.0022	0.0003	0.0003	0.0012	0.0010	9.014e-05	0.0001	0	0	0.0001	0.0022	0.0004	0.0003	8.173e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0	0	0.0001	0	0	0	0	0.0005	0.0005	0	0.261	0.35918	T	0.444	0.27767	T	0.002	0.09854	B	0.004	0.10090	B	0.000028	0.55875	D	0.114967	0.911908	0.36434	D	-0.005	0.05143	N	0.59	0.53943	T	-1.45	0.36385	N	0.228	0.28264	-0.9494	0.41075	T	0.096	0.36029	T	10	0.13408425	0.25519	T	0.010925	0.28000	T	0.055	0.15663	.	.	0.239312915715	0.23560	0.29366360552177717	0.29279	0.0238580147204	0.02421	0.438957393169	0.30435	T	0.022597	0.17395	T	-0.412014	0.01927	T	-0.463164	0.26256	T	0.0579202733933926	0.06838	T	0.854615	0.54143	D	0.17403232	0.38185	0.22108205	0.46906	0.17403232	0.38184	0.22108205	0.46905	-6.418	0.51282	T	.	.	0.075	0.06803	B	.;.;.;.;.	.;.;.;.;.	2.768954	0.36341	20.2	0.99260223469629882	0.57188	0.85758	0.44926	D	AEFBI	0.507654	0.53786	D	-0.208836767032639	0.32771	1.85189	-0.00479337233499273	0.39499	2.34284	0.999872940148206	0.44625	0.706298	0.61202	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	2.404000	0.44192	4.995000	0.46555	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.085	0.64477	964	0.07719	.;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;.;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 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	0.02381	540.98	38	chr8	18801311	.	T	C	540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.390e-01;DP=797;ExcessHet=0.0000;FS=0.949;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.07;ReadPosRankSum=0.115;SOR=0.922	GT:AD:DP:GQ:PL	0/1:40,27:67:99:555,0,958	20	0	1	0
chr8	26864473	26864473	C	T	exonic	ADRA1A	.	nonsynonymous SNV	ADRA1A:NM_001322502:exon1:c.G497A:p.R166K	.	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.008	B	0.000	D	0.973	D	-0.92	N	1.25	T	-0.997	T	0.018	T	0.131	0.288	5.557	4.46	2.646	4.150	7.036	0.050	0.00198605054735	0.0032	0.00139776	0.0021	0.0009	0.0010	0	0	0.0036	0	0.0001	0.0023221	359	154602	rs56233953	0.0028	0.0028	0.0028	0.0029	0.0054	0.0027	0.0027	0.0039	0.0034	0.0007	0.0017	0.0010	0	0.0003	0.0054	0.0034	0.0030	0.0002	0.0025	0.0025	0.0028	0.0022	0.0041	0.0023	0.0022	0.0037	0.0036	0.0007	0.0033	0.0030	0	0	0	0.0171	0.0041	0.0052	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.09854	B	0.003	0.08700	B	0.000002	0.62929	D	0.100468	0.973035	0.38993	D	-0.4	0.02994	N	1.25	0.36512	T	1.77	0.00544	N	0.066	0.10483	-0.9974	0.30646	T	0.018	0.07329	T	10	0.007351011	0.00167	T	0.001986	0.03562	T	0.050	0.13987	.	.	0.493896554345	0.49026	0.46228028280086203	0.46146	0.306489444402	0.32949	0.332844078541	0.15364	T	0.033721	0.23030	T	-0.536506	0.00352	T	-0.544269	0.17880	T	0.0386525655362211	0.03448	T	0.847115	0.52772	T	0.2161365	0.44064	0.18674666	0.41866	0.2161365	0.44064	0.18674666	0.41865	-0.919	0.00930	T	.	.	0.094	0.15341	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.338608	0.29965	18.29	0.81798670386369077	0.13865	0.65960	0.32914	D	AEFDBCI	0.471640	0.51709	N	-0.426151954746049	0.24556	1.326728	-0.135339284710295	0.33977	1.949382	0.99808437736861	0.36406	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.35	4.46	0.53567	4.202000	0.58243	4.008000	0.41136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.7497:0.0:0.2503	7.036	0.24174	881	0.29269	GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2566.98	33	chr8	26864473	.	C	T	2566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.250e-01;DP=911;ExcessHet=0.0000;FS=1.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.468;SOR=0.592	GT:AD:DP:GQ:PL	0/1:89,101:190:99:2581,0,2405	20	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.988	D	0.869	P	0.000	D	1.000	D	2.115	M	0.93	T	-0.886	T	0.159	T	0.906	4.104	21.1	0.193	0.076	0.581	10.624	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	935.59	59	chr8	28780872	.	G	C	935.59	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.284e+00;DP=1729;ExcessHet=4.7172;FS=229.301;InbreedingCoeff=-0.2916;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-6.400e-02;SOR=11.592	GT:AD:DP:GQ:PL	0/1:60,32:92:99:247,0,1037	12	0	9	0
chr8	29155778	29155778	T	C	exonic	KIF13B	.	nonsynonymous SNV	KIF13B:NM_015254:exon14:c.A1483G:p.I495V,	.	.	.	.	.	.	.	.	.	.	.	3455774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.958	D	0.97	D	0.000	D	1.000	D	1.93	M	-2.85	D	0.699	D	0.807	D	0.377	1.930	12.41	5.02	2.228	5.675	15.198	0.575	0.0624448102537	7.7e-05	.	9.815e-05	0.0002	0.0005	0.0002	0	6.188e-05	0	0	3.88e-05	6	154602	rs377395370	5.52e-05	5.609e-05	5.894e-05	5.142e-05	0.0010	4.516e-05	4.183e-05	0.0005	0.0003	2.998e-05	0.0004	0.0006	2.533e-05	0	0.0010	1.81e-05	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0001	0.0011	0.0010	0	0	0.0016	0.0012	0	0	0	2.94e-05	0.0005	0	0.076	0.41637	T	0.039	0.51112	D	0.581	0.38837	P	0.487	0.47260	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.33	0.66821	M	-2.85	0.91363	D	-0.81	0.23156	N	0.473	0.50868	0.699	0.93161	D	0.807	0.93475	D	10	0.20301887	0.36442	T	0.062445	0.68654	D	0.575	0.82799	.	.	0.75956964043	0.75738	0.3021729205111378	0.30130	0.22773795391	0.25330	0.589011073112	0.51355	T	0.260329	0.63169	T	-0.110458	0.34694	T	-0.0704999	0.65590	T	0.10390071001088	0.12781	T	0.946405	0.79487	D	0.19490127	0.41257	0.10031104	0.23981	0.19490127	0.41257	0.10031104	0.23980	-6.36	0.49196	T	.	.	0.157	0.34732	B	.;.	.;.	2.295597	0.29365	18.10	0.99466047459665052	0.66049	0.96370	0.68806	D	AEFBI	0.649114	0.62369	D	0.314814491331364	0.56907	3.856411	0.32884433934177	0.57239	3.889162	0.999639745251424	0.41205	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	5.855000	0.69252	5.030000	0.46819	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.269000	0.23743	0.0:0.0:0.0:1.0	15.198	0.72794	782	0.47442	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain	.	.	.	.	.	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	0.02381	2046.98	33	chr8	29155778	.	T	C	2046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.336;DP=844;ExcessHet=0.0000;FS=1.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.364;SOR=0.585	GT:AD:DP:GQ:PL	0/1:68,85:153:99:2061,0,1532	20	0	1	0
chr8	37765583	37765583	A	G	exonic	PLPBP	.	startloss	PLPBP:NM_001349346:exon2:c.A157G:p.M53V	Epilepsy, early-onset, vitamin B6-dependent, Autosomal recessive	.	432	1057	33	0	0	33	0.0153703	.	.	700577	Epilepsy,_early-onset,_vitamin_B6-dependent|not_provided|PLPBP-related_disorder	MONDO:MONDO:0015005,MedGen:C4310632,OMIM:617290|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.38	T	0.03	B	0.036	B	0.000	N	1.000	D	0.375	N	1.1	T	-1.097	T	0.041	T	0.519	2.627	14.74	3.19	0.399	4.068	7.911	0.165	.	0.0025	0.00299521	0.0040	0.0002	0.0016	0	0	0.0044	0.0044	0.0105	0.0037386	578	154602	rs79148472	0.0030	0.0030	0.0026	0.0033	0.0114	0.0029	0.0029	0.0108	0.0106	0.0003	0.0025	0.0360	0	9.362e-05	0.0097	0.0017	0.0052	0.0114	0.0036	0.0036	0.0036	0.0037	0.0118	0.0034	0.0033	0.0094	0.0085	0.0004	0.0581	0.0068	0.0349	0.0002	0	0.0102	0.0027	0.0066	0.0118	0.186	0.43708	T	0.269	0.65728	T	0.03	0.20002	B	0.036	0.22909	B	0.000002	0.62929	N	0.129180	0.999947	0.51968	D	.	.	.	1.1	0.39050	T	-1.26	0.33197	N	0.363	0.40465	-1.0971	0.04460	T	0.041	0.17488	T	10	0.0074546933	0.00234	T	.	.	.	0.165	0.42395	.	.	0.375326005269	0.37140	0.6676253969053125	0.66700	0.393107289621	0.40487	0.498717695475	0.38649	T	0.115455	0.43406	T	-0.397739	0.02396	T	-0.334706	0.40943	T	0.0174620146107762	0.00482	T	0.870713	0.70943	D	0.16238672	0.36311	0.24272025	0.49699	0.18322273	0.39578	0.25851876	0.51584	-9.208	0.69025	D	0.2352886415509135	0.31858	0.132	0.28406	B	.;.;.	.;.;.	1.941475	0.24657	16.48	0.98291450862916874	0.39954	0.96462	0.69259	D	AEFBI	0.543781	0.55897	D	-0.351469607905831	0.27217	1.491578	-0.161590075980083	0.32965	1.880748	0.999970943173882	0.50053	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	3.19	0.35720	4.095000	0.57456	2.187000	0.31177	0.756000	0.94297	1.000000	0.71638	0.995000	0.32472	0.997000	0.79791	0.79:0.1383:0.0717:0.0	7.911	0.28952	798	0.45050	Alanine racemase, N-terminal;Alanine racemase, 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	0.02381	697.98	33	chr8	37765583	.	A	G	697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.493e+00;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=-1.465e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/1:36,31:67:99:712,0,941	20	0	1	0
chr8	38304635	38304635	T	C	exonic	NSD3	.	nonsynonymous SNV	NSD3:NM_023034:exon14:c.A2563G:p.S855G,	Leukemia, acute myeloid, Autosomal dominant	.	9	1510	3	0	0	3	0.000992392	.	.	736642	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.001	B	0.008	U	1.000	D	-0.2	N	-3.62	D	-0.298	T	0.542	D	0.139	2.240	13.45	4.47	1.072	2.981	8.257	0.241	.	.	0.00359425	0.0018	0	8.657e-05	0	0	0	0.0011	0.0129	0.0015847	245	154602	rs200585543	0.0008	0.0008	0.0005	0.0012	0.0134	0.0008	0.0008	0.0128	0.0125	0	0	0	0	0	0.0005	6.296e-06	0.0008	0.0134	0.0005	0.0005	0.0002	0.0009	0.0162	0.0004	0.0004	0.0133	0.0122	2.405e-05	0	0	0	0.0002	0	0	0	0	0.0162	0.29	0.25355	T	0.341	0.18449	T	0.0	0.02946	B	0.0	0.04355	B	0.008220	0.30959	U	0.221861	0.755912	0.29590	N	0.85	0.21244	L	-3.62	0.95077	D	0.48	0.03700	N	0.104	0.09490	-0.2985	0.75026	T	0.542	0.83122	D	10	0.0032746494	0.00056	T	.	.	.	0.241	0.54641	0.303	0.27164	0.196089822672	0.19227	0.2552825894766767	0.25442	0.396591023391	0.40765	0.289771229029	0.08889	T	0.017583	0.14320	T	-0.319857	0.06909	T	-0.220553	0.52685	T	0.0486169836871075	0.05254	T	0.589941	0.21965	T	0.095955335	0.22594	0.061597515	0.11920	0.095955335	0.22594	0.061597515	0.11919	-3.265	0.16713	T	.	.	0.059	0.01075	B	.;.;.	.;.;.	2.373463	0.30458	18.44	0.99051069392648317	0.51253	0.90107	0.51028	D	AEFDBI	0.165206	0.29168	N	-0.415147039715644	0.24938	1.350138	-0.195464251082535	0.31703	1.796648	0.997124040126172	0.35298	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.62	4.47	0.53770	2.992000	0.49106	3.507000	0.38815	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.1565:0.0:0.8435	8.257	0.30923	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	0.02381	1281.98	34	chr8	38304635	.	T	C	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.360;DP=790;ExcessHet=0.0000;FS=2.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=2.65;SOR=1.014	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1296,0,1051	20	0	1	0
chr8	38988000	38988000	G	C	exonic	HTRA4	.	nonsynonymous SNV	HTRA4:NM_153692:exon9:c.G1333C:p.D445H,	.	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.02	M	-1.9	D	0.741	D	0.807	D	0.935	3.397	17.47	6.07	2.885	8.132	19.431	0.751	0.258428463521	0.0005	0.00159744	0.0018	9.724e-05	0.0010	0	0.0002	0.0015	0.0045	0.0061	0.0015524	240	154602	rs139374339	0.0011	0.0011	0.0009	0.0013	0.0067	0.0011	0.0011	0.0063	0.0061	0.0001	0.0007	0	2.524e-05	0.0002	0.0033	0.0008	0.0011	0.0067	0.0009	0.0009	0.0008	0.0011	0.0075	0.0008	0.0008	0.0055	0.0049	0.0002	0	0.0022	0	0	0	0.0034	0.0009	0.0009	0.0075	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000021	0.55875	D	0.066400	1	0.81001	D	3.08	0.87267	M	-1.9	0.84628	D	-5.24	0.83967	D	0.638	0.65074	0.741	0.93682	D	0.807	0.93468	D	10	0.024195105	0.00657	T	0.258428	0.89407	D	0.751	0.91456	.	.	0.978025239274	0.97778	0.7825490449195445	0.78205	0.579290574343	0.53809	0.493719756603	0.37955	T	0.09733	0.40005	T	0.10995	0.65347	D	0.38791	0.91709	D	0.142907733418972	0.16523	T	0.586841	0.21439	T	0.8243261	0.85513	0.8029024	0.88452	0.8243261	0.85515	0.8029024	0.88453	-9.493	0.70815	D	.	.	0.361	0.57274	A	.	.	4.093954	0.60998	24.3	0.99404666347589465	0.62981	0.98821	0.87296	D	AEFBI	0.881359	0.80865	D	0.869660193267806	0.90197	10.29553	0.789693061423875	0.89066	9.825581	0.999999999999984	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	6.07	6.07	0.98675	8.340000	0.89951	8.662000	0.77976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.0:0.0:1.0:0.0	19.431	0.94757	651	0.62880	PDZ domain|PDZ domain|PDZ 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	0.02381	957.98	36	chr8	38988000	.	G	C	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.707;DP=766;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=1.81;SOR=0.975	GT:AD:DP:GQ:PL	0/1:37,38:75:99:972,0,885	20	0	1	0
chr8	39788742	39788742	T	A	splicing	ADAM2	NM_001278114:exon8:c.571-2A>T;NM_001278113:exon7:c.514-2A>T;NM_001464:exon8:c.571-2A>T	.	.	.	.	541	946	28	7	0	42	0.0217166	0.9999	0.844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.641	11.45	4.59	1.830	4.507	10.649	.	.	0.0066	0.00579073	0.0071	0.0022	0.0050	0	0.0008	0.0080	0.0118	0.0142	0.0063324	979	154602	rs75268423	0.0072	0.0073	0.0071	0.0074	0.0212	0.0071	0.0070	0.0180	0.0168	0.0025	0.0050	0.0131	5.734e-05	0.0008	0.0212	0.0073	0.0088	0.0128	0.0055	0.0055	0.0059	0.0050	0.0103	0.0052	0.0050	0.0081	0.0072	0.0018	0	0.0060	0.0133	0	0.0008	0.0238	0.0079	0.0067	0.0103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.127234	0.31946	T	0.0567852	0.74031	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.039753	0.59798	24.1	0.98318653159895286	0.40222	0.92711	0.56359	D	AEFBI	.	.	.	0.86118110704879	0.89735	10.09558	0.643665792625693	0.78139	6.816689	0.00393367120657241	0.10346	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.715136	0.43286	4.59	4.59	0.56297	3.176000	0.50564	7.659000	0.64126	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.637000	0.32341	0.0:0.0:0.0:1.0	10.649	0.44831	872	0.31118	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	478.98	33	chr8	39788742	.	T	A	478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e-01;DP=743;ExcessHet=0.0000;FS=2.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.48;ReadPosRankSum=0.452;SOR=0.398	GT:AD:DP:GQ:PL	0/1:42,22:64:99:493,0,1168	20	0	1	0
chr8	42178946	42178946	C	G	exonic	PLAT	.	nonsynonymous SNV	PLAT:NM_001319189:exon11:c.G1214C:p.G405A	Hyperfibrinolysis, familial, due to increased release of PLAT;Thrombophilia, familial, due to decreased release of PLAT	.	1	1520	1	0	0	1	0.000328839	.	.	796175	Thrombocytopenia|Abnormal_bleeding|not_provided	Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	1.0	D	1.0	D	0.000	D	1.000	D	1.575	L	-2.72	D	0.590	D	0.806	D	0.961	2.792	15.30	5.5	2.735	7.316	19.766	0.783	0.0866045491604	0.0005	0.000599042	0.0008	0.0003	0.0006	0	0	0.0010	0	0.0014	0.0008021	124	154602	rs61755432	0.0014	0.0014	0.0014	0.0014	0.0016	0.0013	0.0013	0.0016	0.0015	0.0001	0.0004	0.0001	0	0.0001	0.0005	0.0016	0.0013	0.0011	0.0011	0.0011	0.0011	0.0011	0.0017	0.0009	0.0009	0.0014	0.0013	0.0002	0.0011	0.0017	0.0003	0	0	0	0.0017	0.0024	0.0012	0.183	0.44358	T	0.182	0.30241	T	0.999	0.90584	D	0.948	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	-2.72	0.90622	D	-4.08	0.74742	D	0.906	0.96758	0.590	0.91768	D	0.806	0.93446	D	10	0.29897818	0.47452	T	0.086605	0.74771	D	0.783	0.92787	.	.	0.968457319957	0.96811	0.912930472553323	0.91267	0.734712489315	0.62915	0.687568187714	0.65356	T	0.890346	0.97768	D	0.133038	0.67656	D	0.388245	0.91721	D	0.0463386946700717	0.04846	T	0.949105	0.83775	D	0.67472124	0.76686	0.43188176	0.66791	0.67472124	0.76687	0.43188176	0.66791	-10.592	0.77374	D	.	.	0.367	0.63109	A	.;.;.;.;.;.	.;.;.;.;.;.	4.860892	0.79544	27.1	0.98965677503709559	0.49423	0.98983	0.89528	D	AEFDBI	0.915366	0.88006	D	0.513964973978383	0.67914	5.145848	0.459050374464789	0.65302	4.806426	1.0	0.98316	0.634777	0.41761	0	0.519925	0.08708	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.373000	0.78878	7.592000	0.61280	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:1.0:0.0:0.0	19.766	0.96341	400	0.82730	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;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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	693.98	39	chr8	42178946	.	C	G	693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.09;ReadPosRankSum=0.598;SOR=0.655	GT:AD:DP:GQ:PL	0/1:20,26:46:99:708,0,470	20	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.994	D	0.000	D	0.999	D	1.1	L	.	.	-0.632	T	0.303	T	0.823	4.580	24.9	5.98	2.835	6.699	18.639	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	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	0.1316	133.13	53	chr8	66493691	.	G	C	133.13	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.170e+00;DP=1181;ExcessHet=1.1607;FS=144.686;InbreedingCoeff=-0.1900;MLEAC=5;MLEAF=0.132;MQ=59.63;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.07;SOR=10.685	GT:AD:DP:GQ:PL	0/1:52,22:74:11:11,0,798	14	0	5	2
chr8	93797346	93797346	G	A	exonic	TMEM67	.	nonsynonymous SNV	TMEM67:NM_153704:exon20:c.G1976A:p.R659Q	COACH syndrome, Autosomal recessive;Joubert syndrome 6, Autosomal recessive;Meckel syndrome 3, Autosomal recessive;Nephronophthisis 11, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	900155	Meckel_syndrome,_type_3|Joubert_syndrome_6|Nephronophthisis_11|TMEM67-related_disorder|Meckel-Gruber_syndrome|Familial_aplasia_of_the_vermis	MONDO:MONDO:0011821,MedGen:C1846357,OMIM:607361,Orphanet:564|MONDO:MONDO:0012539,MedGen:C1853153,OMIM:610688,Orphanet:475|MONDO:MONDO:0013302,MedGen:C3150796,OMIM:613550,Orphanet:84081|MedGen:CN239423|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.966	D	0.437	B	0.000	D	0.991	D	1.01	L	-4.16	D	0.605	D	0.776	D	0.254	2.821	15.39	5.62	2.651	5.076	9.850	0.392	0.109924779036	.	.	7.414e-05	0	0	0	0.0002	0	0	0.0005	6.47e-05	10	154602	rs769827614	6.567e-05	6.567e-05	3.267e-05	9.901e-05	0.0008	5.495e-05	5.107e-05	0.0007	0.0006	0	6.708e-05	0	0	7.488e-05	0	1.079e-05	8.279e-05	0.0008	3.944e-05	3.941e-05	1.285e-05	6.729e-05	0.0008	1.716e-05	1.13e-05	0.0003	0.0002	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0.0008	0.364	0.12961	T	0.281	0.21612	T	0.928	0.51611	P	0.355	0.42984	B	0.000002	0.62929	D	0.054754	0.991202	0.41332	D	2.2	0.62015	M	-4.16	0.96826	D	-0.98	0.25986	N	0.252	0.28498	0.605	0.91967	D	0.776	0.92398	D	10	0.16559893	0.30948	T	0.109925	0.78710	D	0.392	0.70764	0.539	0.65018	0.996875303014	0.99684	0.33750916083640087	0.33663	0.450094232755	0.44782	0.470991700888	0.34817	T	0.48379	0.81137	T	-0.124816	0.32338	T	-0.0606881	0.66285	T	0.319966942071915	0.25821	T	0.940956	0.77922	D	0.10435788	0.24670	0.07053765	0.14999	0.10435788	0.24670	0.07053765	0.14998	-1.045	0.01050	T	0.3213642394647577	0.41949	0.091	0.13876	B	.;.	.;.	3.752322	0.53796	23.4	0.99642185181838117	0.76756	0.85055	0.44157	D	AEFBI	0.290866	0.40214	N	0.375371233391161	0.60090	4.194292	0.483913188794834	0.66925	5.015774	0.384559636209914	0.19991	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.62	5.62	0.85714	5.107000	0.64439	6.686000	0.56326	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1568:0.0:0.8432:0.0	9.850	0.40217	579	0.69780	.;.	.	.	.	.	.	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	0.02381	5351.98	35	chr8	93797346	.	G	A	5351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1202;ExcessHet=0.0000;FS=1.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=0.809;SOR=0.791	GT:AD:DP:GQ:PL	0/1:262,226:488:99:5366,0,6135	20	0	1	0
chr8	98089316	98089316	C	T	exonic	ERICH5	.	nonsynonymous SNV	ERICH5:NM_173549:exon2:c.C299T:p.S100F,	.	.	416	1084	21	1	0	23	0.0104975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.899	P	0.667	P	0.619	N	1.000	N	1.39	L	0.79	T	-1.006	T	0.115	T	0.187	2.561	14.52	2.86	0.673	1.252	7.861	0.060	.	0.0049	0.00319489	0.0043	0.0014	0.0028	0	0.0008	0.0065	0.0044	0.0019	0.0046118	713	154602	rs34144950	0.0061	0.0061	0.0061	0.0062	0.0106	0.0060	0.0060	0.0085	0.0077	0.0008	0.0032	3.826e-05	0	0.0011	0.0106	0.0073	0.0062	0.0017	0.0044	0.0044	0.0049	0.0039	0.0074	0.0042	0.0040	0.0069	0.0067	0.0009	0	0.0067	0.0003	0	0.0008	0.0068	0.0074	0.0052	0.0010	0.042	0.41637	D	0.036	0.52060	D	0.899	0.49514	P	0.667	0.53020	P	0.618651	0.10799	N	0.800473	1	0.08975	N	1.525	0.38595	L	0.79	0.49068	T	-3.78	0.71519	D	0.232	0.26111	-1.0065	0.28004	T	0.115	0.40875	T	10	0.008595943	0.00195	T	.	.	.	0.060	0.17295	.	.	0.332902724076	0.32905	0.035470728247831686	0.03494	0.159704334051	0.18023	.	.	.	0.048359	0.27994	T	-0.538225	0.00343	T	-0.536505	0.18641	T	0.0409072582646112	0.03854	T	0.555844	0.19272	T	0.110806584	0.26188	0.12128935	0.29265	0.110806584	0.26188	0.12128935	0.29265	-5.607	0.42856	T	.	.	0.142	0.31125	B	.	.	2.439666	0.31399	18.73	0.99440510548239747	0.64720	0.10520	0.16004	N	AEFDBI	0.106676	0.21277	N	-0.432944068937169	0.24322	1.312446	-0.593839667217455	0.19652	1.055397	0.014842906693891	0.12645	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.71	2.86	0.32427	1.611000	0.36490	1.097000	0.24034	-0.224000	0.07868	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.1849:0.6369:0.1782:0.0	7.861	0.28672	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1535.98	34	chr8	98089316	.	C	T	1535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=812;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-3.820e-01;SOR=0.536	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1550,0,1671	20	0	1	0
chr8	99778810	99778810	G	C	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon42:c.G7633C:p.E2545Q	Cohen syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.922	D	0.000	D	1.000	D	1.845	L	-0.47	T	-0.100	T	0.447	T	0.38	4.549	24.6	4.57	1.285	7.252	13.736	0.247	0.0447452973275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46910	D	0.022	0.57587	D	0.996	0.68779	D	0.922	0.65739	D	0.000014	0.62929	D	0.110781	0.999566	0.81001	D	2.33	0.66821	M	-0.47	0.70133	T	-1.21	0.30762	N	0.52	0.55019	-0.0999	0.80100	T	0.447	0.78276	T	10	0.43066174	0.57468	T	0.044745	0.61641	D	0.247	0.55478	0.343	0.33626	0.715729387031	0.71323	0.30561118976972984	0.30474	0.264670799846	0.29017	0.410044014454	0.26462	T	0.11535	0.43387	T	0.0349696	0.56383	T	-0.187545	0.55820	T	0.931605041027069	0.59708	D	0.856914	0.54589	D	0.20281625	0.42338	0.121299446	0.29268	0.20281625	0.42338	0.121299446	0.29267	-3.682	0.19052	T	0.8036494507847762	0.87992	0.199	0.43227	B	.;.	.;.	4.325895	0.66244	24.9	0.99784379108529142	0.87043	0.98899	0.88348	D	AEFBI	0.766816	0.70288	D	0.574594056980471	0.71590	5.674334	0.577485097829878	0.73330	5.952686	0.999996966036441	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.44	4.57	0.55860	7.365000	0.78793	9.947000	0.82700	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0738:0.0:0.9262:0.0	13.736	0.62300	464	0.78488	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1811.98	34	chr8	99778810	.	G	C	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=861;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-4.640e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/1:93,69:162:99:1826,0,2433	20	0	1	0
chr8	102560795	102560803	AGCCCCTGC	0	exonic	ODF1	.	.	.	.	.	430	603	23	0	466	489	0.0187144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560795	.	AGCCCCTGC	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-7.460e-01;DP=2088;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=1.05;SOR=1.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:77,0,55:132:99:1|0:102560764_C_G:2283,2418,5728,0,3227,3026:102560764	11	0	1	1
chr8	102560798	102560798	C	0	exonic	ODF1	.	.	.	.	.	436	601	16	0	469	485	0.0131363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2579.11	37	chr8	102560798	.	C	A,*	2579.11	.	AC=2,8;AF=0.053,0.211;AN=38;BaseQRankSum=0.124;DP=2095;ExcessHet=6.5132;FS=3.341;InbreedingCoeff=-0.2972;MLEAC=2,9;MLEAF=0.053,0.237;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=-3.220e-01;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:77,0,55:132:99:1|0:102560764_C_G:2283,2418,5728,0,3227,3026:102560764	9	0	2	2
chr8	102560804	102560814	AACCCGTGCAG	0	exonic	ODF1	.	.	.	.	.	433	610	23	0	456	479	0.0185036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560804	.	AACCCGTGCAG	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-9.630e-01;DP=1919;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=0.936;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:77,0,55:132:99:1|0:102560764_C_G:2283,2418,5728,0,3227,3026:102560764	11	0	1	1
chr8	105802243	105802243	T	C	exonic	ZFPM2	.	nonsynonymous SNV	ZFPM2:NM_001362836:exon7:c.T2002C:p.S668P	Diaphragmatic hernia 3;Tetralogy of Fallot, Autosomal dominant;46XY sex reversal 9, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	2326897	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.98	T	0.165	B	0.135	B	0.000	D	0.969	D	-0.145	N	3.88	T	-1.044	T	0.024	T	0.572	1.364	10.49	5.72	2.186	3.565	9.907	0.165	0.00840533994355	.	.	3.338e-05	0	0	0	0	1.507e-05	0	0.0002	3.23e-05	5	154602	rs539832236	2.258e-05	2.257e-05	2.314e-05	2.201e-05	0.0003	1.61e-05	1.417e-05	6.092e-05	2.521e-05	0	6.712e-05	0	0	0	0.0003	1.889e-05	6.625e-05	3.478e-05	6.579e-06	6.57e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.442	0.09209	T	0.252	0.24477	T	0.165	0.28508	B	0.135	0.33210	B	0.000001	0.84330	D	0.092877	0.968965	0.38696	D	0.55	0.14455	N	2.2	0.18570	T	1.36	0.00878	N	0.278	0.36989	-1.0439	0.16148	T	0.024	0.10013	T	10	0.10898802	0.20313	T	0.008405	0.22231	T	0.165	0.42395	0.169	0.07419	0.482446708537	0.47876	0.20971652242931074	0.20887	0.236243118388	0.26164	0.597998380661	0.52622	T	0.127305	0.45424	T	-0.270329	0.11719	T	-0.422486	0.30791	T	0.128579288721085	0.15250	T	0.847115	0.52772	T	0.21157627	0.43487	0.23560806	0.48809	0.21157627	0.43487	0.23560806	0.48808	-3.739	0.19895	T	.	.	0.118	0.47622	B	.;.;.	.;.;.	2.767675	0.36324	20.2	0.99278469370786238	0.57799	0.83609	0.42715	D	AEFBCI	0.672201	0.63868	D	-0.284026943631279	0.29765	1.653555	-0.0337036831713026	0.38202	2.247456	0.0204613510656986	0.13260	0.562547	0.31514	0	0.573888	0.26702	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.72	5.72	0.89380	3.546000	0.53409	5.144000	0.47724	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.2625:0.0:0.0:0.7375	9.907	0.40553	812	0.42537	.;.;.	.	.	.	.	.	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	0.02381	2893.98	34	chr8	105802243	.	T	C	2893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=1203;ExcessHet=0.0000;FS=3.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.328;SOR=0.663	GT:AD:DP:GQ:PL	0/1:115,105:220:99:2908,0,3082	20	0	1	0
chr8	109481526	109481526	C	A	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon56:c.C9421A:p.L3141I,	.	.	435	1067	19	1	0	21	0.00974478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.796	P	0.673	P	0.001	N	0.965	N	1.465	L	-2.45	D	-0.187	T	0.639	D	0.216	2.719	15.05	3.84	0.658	0.533	10.079	0.336	.	0.0005	0.00119808	0.0020	0	0.0002	0	0.0003	0.0013	0.0125	0.0072	0.001022	158	154602	rs200961934	0.0006	0.0007	0.0005	0.0008	0.0063	0.0006	0.0006	0.0059	0.0057	3.027e-05	0.0003	0.0048	2.555e-05	5.71e-05	0.0023	0.0002	0.0012	0.0063	0.0005	0.0005	0.0004	0.0006	0.0073	0.0004	0.0004	0.0054	0.0047	4.819e-05	0	0.0002	0.0069	0	0	0	0.0002	0	0.0073	0.055	0.38407	T	0.015	0.61642	D	0.796	0.44790	P	0.673	0.53214	P	0.001034	0.40562	N	0.163065	0.96501	0.25956	N	2.305	0.65957	M	-2.45	0.88847	D	-1.09	0.30140	N	0.398	0.43899	-0.1867	0.78011	T	0.639	0.87376	D	10	0.010953903	0.00242	T	.	.	.	0.336	0.65816	.	.	0.37953744168	0.37561	0.357325073503585	0.35646	0.0425447266547	0.04588	0.351900696754	0.18201	T	0.09838	0.40215	T	-0.350655	0.04686	T	-0.273022	0.47512	T	0.0827592919721143	0.10337	T	0.844016	0.52334	T	0.092409335	0.21679	0.12415299	0.29929	0.092409335	0.21679	0.12415299	0.29928	-4.579	0.31907	T	.	.	0.111	0.31355	B	.;.	.;.	3.288631	0.45089	22.1	0.98521739355580595	0.42471	0.77795	0.38293	D	AEFI	0.298106	0.40751	N	0.170842743986272	0.49802	3.176685	0.199191076164343	0.49802	3.179231	0.0104622321700928	0.12029	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.77	3.84	0.43422	0.576000	0.23446	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8208:0.0:0.1792	10.079	0.41552	604	0.67577	G8 domain|G8 domain|G8 domain;G8 domain|G8 domain|G8 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	0.04762	1853.11	41	chr8	109481526	.	C	A	1853.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.098e+00;DP=899;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.414;SOR=0.728	GT:AD:DP:GQ:PL	0/1:35,37:72:99:919,0,880	19	0	2	0
chr8	112265476	112265476	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon56:c.A9023T:p.N3008I	.	.	425	1038	57	2	0	61	0.0285447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.897	P	0.74	P	0.001	D	1.000	D	0.435	N	-0.14	T	-0.835	T	0.163	T	0.293	2.564	14.53	5.44	2.191	4.032	15.778	0.097	.	0.0030	0.00419329	0.0046	0.0007	0.0016	0	0.0006	0.0050	0.0088	0.0118	0.0044437	687	154602	rs61759499	0.0045	0.0045	0.0042	0.0049	0.0248	0.0044	0.0044	0.0215	0.0202	0.0011	0.0023	0.0094	0.0002	0.0004	0.0248	0.0042	0.0053	0.0122	0.0034	0.0034	0.0037	0.0031	0.0102	0.0032	0.0031	0.0079	0.0071	0.0008	0	0.0020	0.0130	0	0.0003	0.0238	0.0050	0.0052	0.0102	0.259	0.20456	T	0.225	0.25827	T	0.02	0.49385	B	0.018	0.55692	B	0.000977	0.40836	D	0.211612	0.999992	0.58761	D	-1.115	0.00953	N	-0.14	0.65006	T	-3.09	0.63438	D	0.856	0.85238	-0.8346	0.53002	T	0.163	0.49864	T	10	0.0080629885	0.00183	T	.	.	.	0.097	0.27909	.	.	0.255117706274	0.25116	0.2820143294223687	0.28114	0.567525139074	0.53010	0.424648225307	0.28476	T	0.043682	0.26579	T	-0.441398	0.01269	T	-0.395783	0.33875	T	0.0381416662886477	0.03357	T	0.631037	0.32360	T	0.29920405	0.52834	0.23564972	0.48815	0.29920405	0.52833	0.23564972	0.48814	-7.349	0.58611	T	.	.	0.138	0.30022	B	.;.;.;.	.;.;.;.	3.411280	0.47324	22.4	0.97637824020420805	0.35063	0.96486	0.69378	D	AEFGI	0.713844	0.66651	D	0.13987230302269	0.48332	3.046874	0.270081304787182	0.53799	3.547272	0.998598772479356	0.37268	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	2.710000	0.46837	5.043000	0.46929	0.609000	0.47794	0.972000	0.34453	1.000000	0.68203	0.887000	0.42601	0.0:0.0:0.0:1.0	15.778	0.78007	865	0.32612	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1463.98	34	chr8	112265476	.	T	A	1463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.369e+00;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-2.990e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:58,68:126:99:1478,0,1318	20	0	1	0
chr8	119595989	119595989	C	T	exonic	ENPP2	.	nonsynonymous SNV	ENPP2:NM_006209:exon12:c.G986A:p.G329D,	.	.	423	1098	1	0	0	1	0.000455166	.	.	700370	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.003	B	0.001	N	1.000	D	.	.	-0.69	T	-1.002	T	0.123	T	0.193	2.667	14.88	4.1	0.817	1.732	10.554	0.167	.	0.0008	0.00559105	0.0081	0.0006	0.0473	0.0025	0.0345	0.0027	0.0077	0	0.0069339	1072	154602	rs145333587	0.0031	0.0031	0.0035	0.0028	0.0424	0.0030	0.0030	0.0408	0.0402	0.0005	0.0424	0.0039	0.0061	0.0309	0.0003	0.0004	0.0027	0.0002	0.0048	0.0048	0.0034	0.0063	0.0160	0.0045	0.0044	0.0143	0.0137	0.0007	0	0.0160	0.0046	0.0041	0.0328	0	0.0011	0.0024	0	0.044	0.41096	D	0.0	0.92824	D	0.001	0.07471	B	0.003	0.08700	B	0.001298	0.00765	N	4.166730	0.946803	0.81001	D	.	.	.	-0.69	0.72678	T	-0.49	0.15578	N	0.335	0.37613	-1.0018	0.29401	T	0.123	0.42652	T	9	0.007866174	0.00179	T	.	.	.	0.167	0.42761	.	.	.	.	0.5998752950203141	0.59918	0.274224465883	0.29918	0.538474440575	0.44230	T	.	.	.	-0.439307	0.01305	T	-0.368773	0.37033	T	0.00995584338876024	0.00132	T	0.768923	0.39853	T	.	.	.	.	.	.	.	.	-3.353	0.14431	T	.	.	0.213	0.44227	B	.	.	2.315728	0.29649	18.19	0.99169963754107904	0.54355	0.80820	0.40362	D	AEFBI	0.298965	0.40814	N	-0.141471813673859	0.35599	2.046792	0.00895107985748377	0.40128	2.390045	0.999991341323738	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	4.1	0.47196	1.783000	0.38294	0.949000	0.22909	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.7982:0.132:0.0698	10.554	0.44292	932	0.16191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	40	chr8	119595989	.	C	T	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=748;ExcessHet=0.0000;FS=3.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=0.576;SOR=1.314	GT:AD:DP:GQ:PL	0/1:29,30:59:99:824,0,737	20	0	1	0
chr8	124010665	124010665	C	T	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon14:c.C1772T:p.T591I,	.	.	428	1033	60	1	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.002	B	0.108	N	0.850	D	1.1	L	-1.51	D	-0.796	T	0.231	T	0.125	2.072	12.89	-1.02	-0.292	-0.027	9.710	0.205	.	0.0071	0.0131789	0.0097	0.0134	0.0047	0	0.0036	0.0064	0.0078	0.0322	0.0087838	1358	154602	rs151336286	0.0064	0.0064	0.0055	0.0072	0.0290	0.0063	0.0062	0.0281	0.0277	0.0130	0.0047	0.0022	0	0.0041	0.0162	0.0048	0.0075	0.0290	0.0080	0.0080	0.0083	0.0078	0.0264	0.0077	0.0075	0.0227	0.0212	0.0118	0	0.0105	0.0012	0	0.0031	0.0034	0.0057	0.0076	0.0264	0.099	0.30656	T	0.235	0.24767	T	0.0	0.02946	B	0.002	0.06944	B	0.107533	0.19567	N	0.460944	0.850161	0.35209	D	0.995	0.25082	L	-1.51	0.81399	D	-2.99	0.62151	D	0.22	0.24634	-0.7965	0.55350	T	0.231	0.59645	T	10	0.0048378706	0.00103	T	.	.	.	0.205	0.49236	.	.	0.154104182512	0.14974	0.5477211513146669	0.54698	0.118479470376	0.13338	0.444607198238	0.31207	T	0.138948	0.47272	T	-0.459616	0.00988	T	-0.410671	0.32148	T	0.0392810590565205	0.03561	T	0.578142	0.20837	T	0.07896309	0.18014	0.13668564	0.32693	0.07896309	0.18013	0.13668564	0.32692	-7.946	0.60701	D	.	.	0.118	0.24123	B	.	.	1.098005	0.14821	11.36	0.99163655309847987	0.54184	0.09839	0.15503	N	AEFGBHCI	0.051628	0.09138	N	-0.756144786044258	0.14467	0.7208705	-0.739194585284678	0.15987	0.8436258	0.99998999448841	0.51787	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	5.33	-1.02	0.09618	0.083000	0.14718	0.166000	0.15462	0.599000	0.40250	0.028000	0.20300	0.006000	0.19429	0.997000	0.79791	0.0:0.5131:0.0:0.4869	9.710	0.39404	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	785.98	35	chr8	124010665	.	C	T	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=757;ExcessHet=0.0000;FS=6.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-2.125e+00;SOR=1.460	GT:AD:DP:GQ:PL	0/1:39,30:69:99:800,0,995	20	0	1	0
chr8	125073296	125073296	C	G	exonic	WASHC5	.	nonsynonymous SNV	WASHC5:NM_001330609:exon8:c.G563C:p.R188T	Ritscher-Schinzel syndrome 1, Autosomal recessive;Spastic paraplegia 8, autosomal dominant, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	215375	Hereditary_spastic_paraplegia_8|Ritscher-Schinzel_syndrome|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563,Orphanet:100989|MONDO:MONDO:0019078,MedGen:C0796137,OMIM:PS220210,Orphanet:7|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.003	B	0.000	D	0.971	N	-0.55	N	-2.03	D	-0.774	T	0.284	T	0.243	1.876	12.23	4.28	0.898	1.949	12.624	0.202	0.0264280477802	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001164	18	154602	rs150430170	0.0001	0.0001	9.802e-05	0.0001	0.0024	8.781e-05	8.267e-05	0.0015	0.0012	8.962e-05	2.237e-05	0.0018	0	0	0.0024	5.756e-05	0.0003	0	0.0001	0.0001	0.0001	6.713e-05	0.0001	6.506e-05	5.319e-05	2.847e-05	1.858e-05	0	0	0.0001	0.0023	0	0	0.0034	7.35e-05	0	0	0.229	0.18371	T	0.275	0.22016	T	0.0	0.02946	B	0.003	0.08700	B	0.000268	0.46590	D	0.242248	0.970874	0.25682	N	.	.	.	-2.03	0.85613	D	-1.05	0.28906	N	0.371	0.42149	-0.7737	0.56653	T	0.284	0.65586	T	10	0.030617505	0.01189	T	0.026428	0.49337	D	0.202	0.48754	.	.	0.507093260865	0.50349	0.2681600903688332	0.26729	0.35204900141	0.37038	0.398762196302	0.24896	T	0.39072	0.75082	T	-0.15434	0.27635	T	-0.30311	0.44397	T	0.0282099917531013	0.01719	T	0.835616	0.50622	T	0.10875127	0.25712	0.08388064	0.19257	0.10875127	0.25712	0.08388064	0.19257	-3.349	0.14378	T	0.0956347581104726	0.06530	0.089	0.14706	B	.;.	.;.	1.595944	0.20407	14.73	0.65236399482492513	0.07716	0.51131	0.28824	D	AEFGBCI	0.314210	0.41914	N	-0.829164883260676	0.12568	0.6134681	-0.72861187299972	0.16250	0.858744	0.999996829989629	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	4.28	0.50183	2.004000	0.40474	2.239000	0.31595	0.599000	0.40250	0.020000	0.19661	0.075000	0.22287	0.731000	0.35132	0.0:0.8674:0.0:0.1326	12.624	0.55977	688	0.59122	.;.	.	.	.	.	.	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	0.02381	1424.98	65	chr8	125073296	.	C	G	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=1062;ExcessHet=0.0000;FS=2.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=2.32;SOR=1.005	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1439,0,1577	20	0	1	0
chr8	132804005	132804005	G	C	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616C:p.D206H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.951	P	0.748	P	0.143	N	1.000	D	0	N	1.46	T	-0.812	T	0.133	T	0.211	3.663	18.62	5.44	2.563	7.159	18.256	0.133	0.0217428298653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0012	0.0011	0.0014	0.0011	0.0011	0.0014	0.0013	0.0008	6.755e-05	0.0005	0.0002	0.0001	0.0005	0.0014	0.0012	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.061	0.60337	T	0.808	0.45299	P	0.748	0.55971	P	0.142512	0.18241	N	0.607210	0.990395	0.81001	D	0	0.06538	N	0.79	0.49358	T	-2.41	0.52938	N	0.218	0.33140	-0.8119	0.54435	T	0.133	0.44622	T	10	0.1628164	0.30505	T	0.021743	0.44549	T	0.133	0.36157	0.088	0.00943	0.110392049598	0.10638	0.3606634752202491	0.35980	0.966220291154	0.73190	0.357738494873	0.19055	T	0.078333	0.35868	T	-0.114604	0.34010	T	-0.402397	0.33106	T	0.784143755589366	0.45311	D	0.943306	0.81134	D	0.2447809	0.47430	0.25823152	0.51552	0.2447809	0.47430	0.25823152	0.51551	-6.4	0.58645	T	.	.	0.217	0.48948	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.821248	0.78525	26.9	0.99493893563194913	0.67630	0.98845	0.87614	D	AEFDBI	0.837614	0.75522	D	0.361968079601839	0.59374	4.116332	0.491946387230629	0.67454	5.086353	0.999743363373417	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.656000	0.82725	11.836000	0.97677	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.256	0.89958	887	0.27948	Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;.;Domain of unknown function DUF3776;Domain of unknown function DUF3776	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	132.79	34	chr8	132804005	.	G	C	132.79	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-2.844e+00;DP=1194;ExcessHet=0.3300;FS=125.612;InbreedingCoeff=-0.1665;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.472;SOR=9.270	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,9:45:22:.:.:22,0,676	12	0	3	6
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,50,2:52:72:2251,151,0,2169,72,2237	0	17	0	0
chr8	143589187	143589187	G	C	exonic	EEF1D	.	nonsynonymous SNV	EEF1D:NM_001130053:exon3:c.C895G:p.P299A	.	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.03	B	0.034	B	0.463	N	1.000	N	0.695	N	.	.	-1.024	T	0.067	T	0.152	0.453	6.458	-1.61	-0.059	-0.580	7.092	0.020	.	7.7e-05	0.00379393	0.0036	0	0.0003	0	0	6.559e-05	0.0018	0.0245	0.0023156	358	154602	rs368294919	0.0012	0.0012	0.0006	0.0018	0.0195	0.0012	0.0011	0.0188	0.0184	3.015e-05	0.0001	0	2.546e-05	0	0.0007	2.268e-05	0.0009	0.0195	0.0007	0.0007	0.0004	0.0010	0.0199	0.0006	0.0005	0.0167	0.0155	9.62e-05	0	0.0003	0	0	0	0.0034	1.47e-05	0	0.0199	0.141	0.29029	T	0.295	0.27855	T	0.03	0.20002	B	0.034	0.22546	B	0.462954	0.04881	N	1.284940	1	0.08975	N	.	.	.	.	.	.	-0.95	0.69950	N	0.151	0.17691	-1.0240	0.22410	T	0.067	0.27572	T	9	0.0036596358	0.00067	T	.	.	.	0.020	0.03691	.	.	0.337135696972	0.33324	0.23165839362590593	0.23080	0.118362538721	0.13327	0.428507626057	0.29005	T	0.020141	0.15912	T	-0.561689	0.00248	T	-0.564009	0.16002	T	0.0226279557319155	0.00980	T	0.533147	0.36981	T	.	.	.	.	.	.	.	.	-2.938	0.09528	T	.	.	0.055	0.01126	B	.;.;.;.;.	.;.;.;.;.	-0.527607	0.01781	0.137	0.83349212240121429	0.14677	0.19665	0.20748	N	AEFDBCI	0.108222	0.21536	N	-1.03555229452827	0.07874	0.3672626	-1.05432078956186	0.08617	0.4245622	0.999623741488428	0.41093	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.03	-1.61	0.07951	-1.577000	0.02231	.	.	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.4424:0.1152:0.4424:0.0	7.092	0.24468	958	0.09170	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1732.98	67	chr8	143589187	.	G	C	1732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.341e+00;DP=1713;ExcessHet=0.0000;FS=3.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.605;SOR=0.830	GT:AD:DP:GQ:PL	0/1:67,73:140:99:1747,0,1721	20	0	1	0
chr8	144516364	144516364	G	A	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon5:c.C755T:p.P252L,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	YES	0	1507	15	0	0	15	0.00495213	.	.	138904	Rothmund-Thomson_syndrome_type_2|not_specified|not_provided|Baller-Gerold_syndrome	MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0115815	0.0064	0	0.0002	0.0004	0	4.799e-05	0.0036	0.0452	0.0052781	816	154602	rs199773279	0.0025	0.0025	0.0014	0.0037	0.0400	0.0025	0.0024	0.0389	0.0384	2.987e-05	2.24e-05	0	0.0001	0	0.0017	4.768e-05	0.0032	0.0400	0.0014	0.0014	0.0007	0.0022	0.0435	0.0013	0.0012	0.0387	0.0368	4.81e-05	0	0	0	0.0004	0	0	5.88e-05	0	0.0435	.	.	.	0.281	0.21612	T	0.011	0.15914	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.005003482	0.00108	T	.	.	.	.	.	.	.	0.704728438482	0.70216	0.19770409038007036	0.19687	.	.	0.27358341217	0.06613	T	0.072523	0.34474	T	-0.384026	0.02938	T	-0.293703	0.45386	T	.	.	.	0.50325	0.15827	T	0.028072616	0.02090	0.060437925	0.11511	0.028262425	0.02136	0.058010142	0.10646	-4.036	0.24341	T	0.25009329278623943	0.33853	0.075	0.05404	B	.	.	0.771992	0.11419	8.029	0.73065840257512249	0.10194	0.08486	0.14409	N	AEFBHCI	0.080413	0.16259	N	.	.	.	.	.	.	0.999371142064224	0.39355	0.256867	0.04430	0	0.194	0.04241	0	0.320204	0.05785	0	0.186031	0.04203	0	.	.	5.04	-0.014	0.13306	0.618000	0.24068	1.953000	0.29896	-0.106000	0.15538	0.000000	0.06391	0.013000	0.20296	0.028000	0.12845	0.3206:0.1336:0.5458:0.0	5.574	0.16498	900	0.24599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1245.98	124	chr8	144516364	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=2320;ExcessHet=0.0000;FS=1.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=1.49;SOR=0.894	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1260,0,1587	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,9,0:22:99:.:.:276,0,402,316,429,745	3	5	9	0
chr9	4118388	4118388	G	A	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_152629:exon3:c.C625T:p.P209S	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	308470	Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|Monogenic_diabetes|not_provided	MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	0.697	N	1.000	N	-1.645	N	3.04	T	-0.924	T	0.004	T	0.113	-1.951	0.007	2.16	0.147	1.221	7.604	0.068	0.0038800402016	.	0.00219649	0.0025	0.0010	0.0042	0	0.0004	0.0035	0.0040	0.0007	0.0014812	229	154602	rs143056249	0.0020	0.0020	0.0020	0.0020	0.0023	0.0019	0.0019	0.0023	0.0022	0.0002	0.0020	7.7e-05	0	8.808e-05	0.0023	0.0023	0.0022	0.0006	0.0017	0.0017	0.0017	0.0017	0.0039	0.0015	0.0015	0.0031	0.0028	0.0004	0	0.0039	0	0	0.0003	0.0068	0.0025	0.0024	0.0006	0.83	0.02928	T	0.718	0.06284	T	0.0	0.02946	B	0.0	0.04355	B	0.697453	0.10122	N	0.803093	0.999983	0.18198	N	-0.64	0.02118	N	3.04	0.08898	T	0.47	0.03090	N	0.074	0.04913	-0.9240	0.44999	T	0.004	0.01400	T	10	0.004603833	0.00096	T	0.00388	0.09117	T	0.068	0.19811	.	.	0.38225645794	0.37833	0.194961217048772	0.19414	0.0260877877061	0.02663	0.29513540864	0.09677	T	0.024397	0.18443	T	-0.679831	0.00048	T	-0.754234	0.03323	T	0.0047045980365711	0.00050	T	0.660434	0.26965	T	0.023002176	0.01004	0.0446427	0.05830	0.026016003	0.01606	0.041737553	0.04812	-4.121	0.25599	T	.	.	0.066	0.02118	B	.;.	.;.	0.958715	0.13353	9.855	0.22977797875136988	0.00950	0.27591	0.23320	N	AEFDBI	0.103515	0.20737	N	-1.02634273265923	0.08060	0.3765955	-0.852634052249633	0.13224	0.6848539	0.999982086031212	0.51787	0.525926	0.21836	0	0.573888	0.26702	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	5.63	2.16	0.26663	1.242000	0.32358	0.637000	0.20283	0.676000	0.76740	0.998000	0.41325	0.011000	0.20116	0.111000	0.18785	0.3448:0.557:0.0982:0.0	7.604	0.27260	882	0.29131	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	4656.9	44	chr9	4118388	.	G	A	4656.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.70;DP=926;ExcessHet=0.0082;FS=1.919;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=21.97;ReadPosRankSum=0.831;SOR=0.897	GT:AD:DP:GQ:PL	0/1:31,44:75:99:1258,0,699	18	1	2	0
chr9	7011719	7011719	T	C	exonic	KDM4C	.	nonsynonymous SNV	KDM4C:NM_001304340:exon11:c.T1043C:p.I348T	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.001	B	0.003	B	0.972	N	1.000	N	1.5	L	0.58	T	-1.007	T	0.113	T	0.12	-0.641	1.169	0.841	-0.091	0.834	5.109	0.040	0.0149411933122	0.0008	0.000199681	0.0008	9.612e-05	0	0	0	0.0008	0	0.0026	0.0008021	124	154602	rs34369202	0.0013	0.0013	0.0013	0.0014	0.0032	0.0013	0.0012	0.0029	0.0028	0.0002	0.0002	0.0002	0	9.36e-05	0.0005	0.0014	0.0009	0.0032	0.0006	0.0006	0.0007	0.0005	0.0031	0.0005	0.0005	0.0019	0.0016	0.0002	0	0.0001	0	0	9.42e-05	0	0.0010	0	0.0031	0.667	0.05017	T	0.575	0.08746	T	0.0	0.02946	B	0.001	0.04355	B	0.971876	0.08153	N	0.988395	1	0.08975	N	1.87	0.49600	L	0.58	0.54149	T	0.15	0.09627	N	0.201	0.22228	-1.0073	0.27758	T	0.113	0.40377	T	10	0.0059782863	0.00134	T	0.014941	0.35377	T	0.040	0.10527	.	.	0.21737058555	0.21362	0.22452064612702188	0.22367	0.0464318094695	0.05045	0.322712630033	0.13832	T	0.006177	0.09180	T	-0.540485	0.00333	T	-0.552196	0.17116	T	0.00157631992483847	0.00016	T	0.634936	0.24909	T	0.05042495	0.09108	0.036170684	0.03009	0.05042495	0.09108	0.036170684	0.03009	-1.864	0.03173	T	.	.	0.054	0.00487	B	.;.;.;.;.	.;.;.;.;.	1.249459	0.16459	12.55	0.59423029359621626	0.06221	0.15605	0.18993	N	AEFDGBCIJ	0.051201	0.09025	N	-1.01658863821838	0.08259	0.3866283	-1.00965407291577	0.09572	0.4770023	0.999980720823985	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.644132	0.48003	0	0.678554	0.66404	0	.	.	5.76	0.841	0.18052	0.837000	0.27212	0.020000	0.13575	-0.171000	0.11205	0.017000	0.19353	0.004000	0.18990	0.735000	0.35267	0.1283:0.3276:0.0:0.544	5.109	0.14136	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1077.98	34	chr9	7011719	.	T	C	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.056e+00;DP=795;ExcessHet=0.0000;FS=8.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-5.990e-01;SOR=1.445	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1092,0,1144	20	0	1	0
chr9	14776046	14776046	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001177704:exon2:c.G208A:p.D70N	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	2047364	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-0.24	T	0.265	D	0.619	D	0.357	4.924	28.5	6.16	2.937	7.452	20.860	0.507	0.134978447894	8.1e-05	.	4.143e-05	0.0001	8.639e-05	0	0	4.498e-05	0	0	5.17e-05	8	154602	rs374901721	8.62e-05	8.619e-05	8.577e-05	8.665e-05	0.0005	7.354e-05	6.904e-05	0.0001	8.238e-05	2.987e-05	2.236e-05	0	0	0	0.0005	0.0001	8.282e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-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	0.0	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	3.5	0.92762	M	-0.24	0.66834	T	-4.7	0.79829	D	0.889	0.90138	0.265	0.86991	D	0.619	0.86559	D	10	0.8431059	0.83469	D	0.134978	0.81743	D	0.507	0.78786	.	.	0.732440012813	0.73005	0.8884507787285881	0.88814	.	.	0.55310857296	0.46296	T	0.337939	0.70726	T	-0.0605957	0.42814	T	-0.14329	0.59832	T	0.990708112716675	0.80934	D	0.948005	0.79945	D	0.93956244	0.95203	0.8952076	0.94636	0.93956244	0.95204	0.8952076	0.94636	-12.381	0.86657	D	0.7707794361934799	0.85179	0.466	0.65811	A	.;.;.	.;.;.	4.546924	0.71521	25.7	0.99916798419434161	0.98449	0.98184	0.80333	D	AEFBCI	0.946971	0.95702	D	0.932393191078632	0.93253	11.919	0.859523996899313	0.93561	12.12428	0.99999999992119	0.74766	0.581397	0.33459	0	0.59043	0.45803	0	0.565031	0.19037	0	0.586402	0.36253	0	.	.	6.16	6.16	0.99302	7.542000	0.81035	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.606000	0.31539	0.0:1.0:0.0:0.0	20.860	0.99763	764	0.49969	.;.;.	.	.	.	.	.	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	0.02381	2082.98	45	chr9	14776046	.	C	T	2082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=1658;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-2.000e-03;SOR=0.701	GT:AD:DP:GQ:PL	0/1:92,78:170:99:2097,0,2430	20	0	1	0
chr9	14859264	14859264	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001370060:exon4:c.G550A:p.A184T	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	318313	not_provided|Inborn_genetic_diseases|Trigonocephaly_2|Oculotrichoanal_syndrome|BNAR_syndrome	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	0.786	P	0.22	B	0.000	D	1.000	D	2.42	M	2.8	T	-1.085	T	0.037	T	0.432	3.166	16.59	5.82	2.756	3.491	15.665	0.120	0.0153828465344	0.0002	.	0.0006	0	0	0.0005	0.0008	0.0010	0.0011	6.155e-05	0.0005304	82	154602	rs199682518	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0	0	0.0019	0.0001	0.0012	0.0002	0.0001	0.0006	1.16e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	8.368e-05	2.413e-05	0	0	0.0029	0.0006	0.0006	0	8.819e-05	0.0005	0	0.108	0.29420	T	0.011	0.64786	D	0.786	0.44460	P	0.22	0.37792	B	0.000000	0.84330	D	0.047749	0.999827	0.49512	D	2.38	0.68558	M	2.8	0.11082	T	-1.68	0.40082	N	0.296	0.33469	-1.0849	0.06426	T	0.037	0.15770	T	10	0.03746277	0.02103	T	0.015383	0.36078	T	0.120	0.33359	.	.	0.269111216191	0.26524	0.62217547476261	0.62150	.	.	0.44400665164	0.31125	T	0.175242	0.52476	T	-0.38959	0.02707	T	-0.443362	0.28432	T	0.0469973733902836	0.04964	T	0.871113	0.57669	D	0.14854574	0.33907	0.17432557	0.39820	0.14854574	0.33906	0.17432557	0.39819	-3.249	0.13088	T	0.2586592423669196	0.34946	0.096	0.15430	B	.;.	.;.	3.584640	0.50557	23.0	0.99830687133537177	0.91284	0.89114	0.49387	D	AEFBCI	0.638893	0.61715	D	0.288909971673864	0.55585	3.722618	0.332381288179942	0.57450	3.910969	0.999996711700119	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	3.557000	0.53487	4.899000	0.45841	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.947000	0.49155	0.1377:0.8623:0.0:0.0	15.665	0.76976	825	0.40060	.;.	.	.	.	.	.	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	0.02381	1839.98	37	chr9	14859264	.	C	T	1839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.580e-01;DP=1094;ExcessHet=0.0000;FS=4.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.022e+00;SOR=0.427	GT:AD:DP:GQ:PL	0/1:69,70:139:99:1854,0,1807	20	0	1	0
chr9	20354845	20354845	T	C	exonic	MLLT3	.	nonsynonymous SNV	MLLT3:NM_001286691:exon9:c.A1457G:p.K486R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.993	D	0.971	D	0.000	D	1.000	D	1.7	L	.	.	-0.516	T	0.361	T	0.601	3.452	17.69	6.04	2.317	6.840	15.770	0.159	0.00681115969451	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs765186482	6.161e-06	6.156e-06	5.449e-06	6.879e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	4.499e-06	3.313e-05	2.319e-05	1.972e-05	1.97e-05	0	4.035e-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	0.147	0.24955	T	0.263	0.22828	T	0.993	0.65571	D	0.971	0.72444	D	0.000000	0.84330	D	0.043248	1	0.81001	D	2.62	0.76659	M	.	.	.	-1.27	0.39887	N	0.357	0.66529	-0.5160	0.68065	T	0.361	0.72277	T	9	0.25784403	0.43204	T	0.006811	0.18010	T	0.159	0.41286	0.246	0.18139	0.475230170154	0.47152	0.3706168621965356	0.36975	0.14834148217	0.16729	0.775147676468	0.78196	T	0.340802	0.70978	T	0.0841241	0.62519	D	-0.116938	0.62053	T	0.895855963230133	0.54748	D	0.857114	0.56785	D	0.14401078	0.33074	0.2114692	0.45576	0.14401078	0.33074	0.2114692	0.45575	-4.612	0.32435	T	.	.	0.078	0.10449	B	.;.;.;.	.;.;.;.	3.344140	0.46092	22.2	0.99766706229660373	0.85500	0.98232	0.80766	D	AEFGBI	0.725590	0.67453	D	0.655521386853352	0.76727	6.540078	0.684886680800928	0.81232	7.478594	0.999999999998621	0.74766	0.706298	0.61202	0	0.658105	0.61773	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	6.04	6.04	0.98025	6.850000	0.75217	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.770	0.77928	722	0.55239	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1177.98	40	chr9	20354845	.	T	C	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.101e+00;DP=862;ExcessHet=0.0000;FS=4.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-8.130e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1192,0,1553	20	0	1	0
chr9	20758092	20758092	A	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375570:exon5:c.A290G:p.N97S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.02	B	0.011	N	0.614	D	0.55	N	2.0	T	-1.038	T	0.026	T	0.046	0.661	7.543	-0.076	-0.250	0.114	5.413	0.027	0.00477177773327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.08091	T	0.288	0.21144	T	.	.	.	.	.	.	0.011360	0.29565	N	0.399599	0.614444	0.32650	D	.	.	.	2.0	0.21473	T	-0.31	0.12099	N	0.202	0.22357	-1.0378	0.17985	T	0.026	0.10954	T	10	0.047581285	0.04095	T	0.004772	0.11910	T	0.027	0.05988	0.228	0.15406	0.112648838833	0.10856	0.11129214360005082	0.11058	0.00635658170257	0.00556	0.377763181925	0.21939	T	.	.	.	-0.336024	0.05668	T	-0.720452	0.04774	T	0.0794006139039993	0.09909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05890	B	.;.	.;.	1.301991	0.17042	12.92	0.82204280209079794	0.14071	0.10374	0.15898	N	AEFBI	0.056947	0.10569	N	-0.780053685926043	0.13830	0.6842397	-0.697008185635478	0.17035	0.9039821	0.521890494590934	0.21103	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	-0.0758	0.13059	0.046000	0.13919	0.337000	0.17343	0.756000	0.94297	0.009000	0.18154	0.004000	0.18990	0.968000	0.53726	0.5734:0.277:0.1497:0.0	5.413	0.15659	629	0.65079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	232.68	109	chr9	20758092	.	A	G	232.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.046e+00;DP=1329;ExcessHet=0.3300;FS=119.092;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=1.08;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,25:147:75:.:.:75,0,2447	18	0	3	0
chr9	27016910	27016910	A	G	exonic	IFT74	.	nonsynonymous SNV	IFT74:NM_001099222:exon11:c.A793G:p.I265V	.	.	.	.	.	.	.	.	.	.	.	1369153	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.259	B	0.067	B	0.000	N	0.980	D	0.63	N	1.38	T	-1.089	T	0.042	T	0.12	1.559	11.17	0.404	0.102	1.898	2.625	0.030	0.00443154998711	8.5e-05	0.000199681	3.365e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs370062629	8.316e-06	8.893e-06	1.102e-05	5.577e-06	0.0003	4.44e-06	3.5e-06	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.68e-05	0	9.192e-05	9.186e-05	8.995e-05	9.397e-05	0.0003	5.523e-05	4.361e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0	0.266	0.17468	T	0.144	0.33109	T	0.259	0.31472	B	0.041	0.27542	B	0.000298	0.46274	N	0.224065	0.980069	0.39627	D	1.355	0.33814	L	1.38	0.34050	T	-0.69	0.20145	N	0.403	0.44952	-1.0889	0.05718	T	0.042	0.18202	T	10	0.048952222	0.04415	T	0.004432	0.10844	T	0.030	0.07022	.	.	0.186928172975	0.18263	0.09947765640018603	0.09878	0.01395251311	0.01330	0.547421813011	0.45493	T	0.01134	0.10128	T	-0.448592	0.01151	T	-0.576171	0.14889	T	0.031436102265386	0.02215	T	0.830717	0.50455	T	0.03249309	0.03285	0.051711224	0.08375	0.03249309	0.03284	0.051711224	0.08375	-4.179	0.26447	T	.	.	0.110	0.21125	B	.;.;.;.	.;.;.;.	1.704612	0.21711	15.32	0.96288662608006081	0.29305	0.73481	0.35943	D	AEBI	0.133187	0.25275	N	-0.377327696991808	0.26278	1.432982	-0.258688606433622	0.29473	1.65152	0.00152042802698291	0.08604	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.82	0.404	0.15574	2.107000	0.41468	5.023000	0.46762	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.5466:0.1307:0.071:0.2517	2.625	0.04629	535	0.73288	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	288.98	27	chr9	27016910	.	A	G	288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.690e-01;DP=614;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.26;ReadPosRankSum=-1.503e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/1:22,13:35:99:303,0,614	20	0	1	0
chr9	33385764	33385764	C	T	exonic	AQP7	.	nonsynonymous SNV	AQP7:NM_001318156:exon6:c.G457A:p.V153M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.869	P	0.000	D	1.000	N	3.265	M	-2.35	D	0.194	D	0.787	D	0.469	1.572	11.21	1.05	0.024	0.044	8.101	0.055	0.0084383784372	.	0.000199681	0.0001	0	0.0002	0.0009	0	4.498e-05	0	6.056e-05	9.7e-05	15	154602	rs201192248	2.395e-05	2.463e-05	3.132e-05	1.651e-05	0.0002	1.739e-05	1.539e-05	9.928e-05	7.224e-05	0	8.944e-05	0	0.0002	0	0	1.079e-05	0.0001	4.639e-05	7.22e-05	7.217e-05	6.421e-05	8.055e-05	0.0010	3.967e-05	3.124e-05	0.0004	0.0002	0	0	6.532e-05	0	0.0010	0	0	7.349e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.985	0.67487	D	0.812	0.61749	P	0.000129	0.49741	D	0.174297	0.999951	0.19072	N	.	.	.	-2.35	0.88066	D	-2.6	0.57110	D	0.591	0.61426	0.194	0.85799	D	0.787	0.92790	D	10	0.0655458	0.08858	T	0.008438	0.22332	T	0.371	0.69016	.	.	0.718680186441	0.71620	.	.	0.681429801449	0.60047	0.400592982769	0.25152	T	0.687083	0.95357	D	0.0739642	0.61326	D	-0.131532	0.60843	T	0.271196062467555	0.23799	T	0.876112	0.71672	D	0.8192668	0.85170	0.64877766	0.79456	0.8192668	0.85171	0.64877766	0.79457	-7.67	0.58799	D	.	.	0.451	0.76420	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.576886	0.20184	14.63	0.99341881291286549	0.60210	0.08394	0.14329	N	AEFDBI	0.233574	0.35647	N	-0.263102405105401	0.30584	1.706688	-0.538724453893042	0.21104	1.140168	0.787371942100614	0.23954	0.57788	0.32782	0	0.851559	0.99867	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	5.02	1.05	0.19280	0.058000	0.14178	-3.050000	0.03106	-0.210000	0.08370	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	0.0:0.6414:0.0:0.3586	8.101	0.30020	522	0.74218	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2289.98	35	chr9	33385764	.	C	T	2289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.51;DP=939;ExcessHet=0.0000;FS=1.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=-1.073e+00;QD=11.45;ReadPosRankSum=-6.600e-02;SOR=0.670	GT:AD:DP:GQ:PL	0/1:108,92:200:99:2304,0,2545	20	0	1	0
chr9	33944447	33944447	A	G	exonic	UBAP2	.	nonsynonymous SNV	UBAP2:NM_001370067:exon12:c.T1304C:p.I435T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.733	P	0.201	B	0.291	N	1.000	N	0	N	2.75	T	-1.069	T	0.028	T	0.158	-0.113	3.447	4.08	2.065	2.565	10.258	0.031	0.00776838224236	0.0002	.	0.0002	0	0	0.0016	0	0.0002	0	0	0.0001682	26	154602	rs201283769	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0007	0.0006	0.0001	2.236e-05	0	0.0010	0	0	0.0002	8.279e-05	2.319e-05	9.855e-05	0.0001	7.711e-05	0.0001	0.0012	6.006e-05	4.879e-05	0.0005	0.0003	4.814e-05	0	6.546e-05	0	0.0012	0	0	8.822e-05	0	0	0.44	0.09264	T	0.445	0.13140	T	0.067	0.23653	B	0.011	0.15521	B	0.291413	0.14762	N	0.680586	1	0.08975	N	0.69	0.16971	N	2.75	0.11622	T	0.0	0.07008	N	0.062	0.03392	-1.0687	0.09701	T	0.028	0.12058	T	10	0.008266509	0.00187	T	0.007768	0.20616	T	0.031	0.07369	.	.	0.043077524339	0.03247	0.05740121079892574	0.05681	0.0917213970653	0.10352	0.341591238976	0.16676	T	0.011672	0.10383	T	-0.581288	0.00189	T	-0.611121	0.11894	T	0.0105922958599373	0.00148	T	0.573243	0.20505	T	0.018743904	0.00397	0.039744217	0.04138	0.018743904	0.00397	0.039744217	0.04137	-1.973	0.03081	T	.	.	0.055	0.00412	B	.;.	.;.	1.575315	0.20165	14.62	0.78749880321267252	0.12436	0.22437	0.21746	N	AEFBI	0.073292	0.14656	N	-0.707908616543125	0.15798	0.7994074	-0.650072014454263	0.18215	0.9720598	0.997318501385282	0.35488	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.42	4.08	0.46880	3.389000	0.52255	4.606000	0.44017	-0.041000	0.17446	0.442000	0.26503	1.000000	0.68203	0.132000	0.19645	0.8644:0.0:0.1356:0.0	10.258	0.42586	302	0.87871	.;.	.	.	.	.	.	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	0.02381	2019.98	36	chr9	33944447	.	A	G	2019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.167e+00;DP=838;ExcessHet=0.0000;FS=1.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-5.390e-01;SOR=0.558	GT:AD:DP:GQ:PL	0/1:50,79:129:99:2034,0,1237	20	0	1	0
chr9	34622035	34622035	C	T	exonic	ARID3C	.	nonsynonymous SNV	ARID3C:NM_001017363:exon6:c.G1123A:p.G375R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.415	M	0.94	T	-0.537	T	0.218	T	0.944	4.524	24.4	5.03	2.612	7.651	17.535	0.705	.	7.7e-05	0.00279553	0.0005	0	0.0002	0.0064	0	1.498e-05	0.0011	0.0002	0.0004916	76	154602	rs142710890	0.0002	0.0002	0.0003	0.0002	0.0059	0.0002	0.0002	0.0053	0.0051	0	2.236e-05	0	0.0059	0	0.0002	5.576e-05	0.0003	0.0004	0.0004	0.0004	0.0003	0.0004	0.0077	0.0003	0.0003	0.0058	0.0052	2.408e-05	0	0.0004	0	0.0077	0	0	4.412e-05	0.0005	0.0006	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000254	0.46924	D	0.000000	0.999987	0.54805	D	2.9	0.83903	M	0.94	0.43672	T	-6.16	0.90215	D	0.975	0.98563	-0.5369	0.67281	T	0.218	0.58111	T	10	0.027806848	0.00920	T	.	.	.	0.705	0.89422	0.767	0.89452	0.68772318637	0.68504	0.8902513690267346	0.88995	1.00411457125	0.74521	0.813988447189	0.84105	D	0.207108	0.56666	T	-0.0627316	0.42480	T	0.143087	0.79744	D	0.102552445627987	0.12635	T	0.930407	0.74231	D	0.80061907	0.83945	0.67771757	0.81071	0.80061907	0.83946	0.67771757	0.81072	-10.619	0.77528	D	.	.	0.723	0.73909	P	.	.	5.311446	0.89163	29.9	0.99911655409330258	0.98095	0.99181	0.92424	D	AEFBI	0.943217	0.94877	D	0.83810052144494	0.88421	9.571719	0.797669454935617	0.89631	10.05517	1.0	0.98316	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.03	5.03	0.67015	7.860000	0.85401	7.699000	0.66186	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.535	0.87726	270	0.89404	REKLES 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	0.02381	1773.98	35	chr9	34622035	.	C	T	1773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=864;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-6.150e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/1:86,75:161:99:1788,0,1918	20	0	1	0
chr9	35753173	35753173	C	A	exonic	MSMP	.	nonsynonymous SNV	MSMP:NM_001044264:exon3:c.G347T:p.G116V,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.153	B	0.106	B	.	.	0.000	P	-0.695	N	0.93	T	-1.016	T	0.000	T	0.301	1.234	10.01	5.02	1.500	2.485	7.414	0.066	.	0.0007	0.0361422	0.0135	0.0013	0.0008	0.1655	0.0131	0.0010	0.0089	0.0018	0.0126712	1959	154602	rs3750436	0.0062	0.0062	0.0063	0.0060	0.1815	0.0060	0.0060	0.1780	0.1766	0.0006	0.0006	0	0.1815	0.0109	0.0014	0.0003	0.0104	0.0027	0.0075	0.0075	0.0061	0.0088	0.1671	0.0071	0.0069	0.1578	0.1541	0.0013	0	0.0008	0	0.1671	0.0110	0	0.0007	0.0062	0.0056	0.503	0.07670	T	0.11	0.37310	T	0.153	0.28093	B	0.106	0.31143	B	.	.	.	.	1.16733e-05	0.58761	P	0	0.06538	N	0.93	0.44065	T	0.99	0.01428	N	0.118	0.10769	-1.0165	0.24852	T	0.000	0.00039	T	8	0.001380384	0.00015	T	.	.	.	0.066	0.19193	.	.	.	.	0.24757079640618967	0.24671	0.240604551926	0.26601	0.451119184494	0.32097	T	7.37E-4	0.00340	T	-0.597154	0.00152	T	-0.486727	0.23735	T	0.0142331391322325	0.00281	T	0.622538	0.23960	T	0.1333022	0.31009	0.12868968	0.30956	0.1333022	0.31009	0.12868968	0.30955	-3.059	0.10831	T	.	.	0.084	0.09723	B	.	.	2.579094	0.33439	19.34	0.93809489873158869	0.23783	0.97741	0.76797	D	AEFBI	0.350922	0.44420	N	-0.319083255113372	0.28424	1.567623	-0.0696355096108329	0.36653	2.135764	0.999999101552301	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.92	5.02	0.66742	1.427000	0.34489	4.955000	0.46306	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.999000	0.91618	0.0:0.7248:0.0:0.2751	7.414	0.26205	100	0.95872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1192.98	34	chr9	35753173	.	C	A	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.527e+00;DP=788;ExcessHet=0.0000;FS=1.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=0.127;SOR=0.574	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1207,0,1094	20	0	1	0
chr9	35906604	35906604	-	CACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA	exonic	HRCT1	.	frameshift insertion	HRCT1:NM_001039792:exon1:c.317_318insCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA:p.H107Tfs*66,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.474e-06	8.085e-06	7.485e-06	9.476e-06	3.226e-05	3.99e-06	2.89e-06	2.63e-06	1.73e-06	0	3.226e-05	0	0	0	0	7.318e-06	2.214e-05	1.524e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	950.17	25	chr9	35906604	.	C	CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA,CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA,CCA	950.17	.	AC=1,1,1;AF=0.031,0.031,0.031;AN=32;BaseQRankSum=0.447;DP=622;ExcessHet=0.3672;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1,1;MLEAF=0.031,0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.134;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,15,0:40:99:0|1:35906603_C_CA:469,544,1564,0,1020,975,544,1564,1020,1564:35906603	13	0	1	5
chr9	35906604	35906604	-	CACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA	exonic	HRCT1	.	frameshift insertion	HRCT1:NM_001039792:exon1:c.317_318insCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA:p.H107Tfs*69,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.0075	0.0076	0.0077	0.0113	0.0075	0.0075	0.0085	0.0082	0.0027	0.0094	0.0095	3.371e-05	0.0028	0.0113	0.0084	0.0097	0.0029	0.0079	0.0089	0.0089	0.0068	0.0112	0.0074	0.0072	0.0104	0.0101	0.0032	0.0084	0.0083	0.0088	0	0.0008	0.0341	0.0112	0.0119	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	950.17	25	chr9	35906604	.	C	CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA,CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA,CCA	950.17	.	AC=1,1,1;AF=0.031,0.031,0.031;AN=32;BaseQRankSum=0.447;DP=622;ExcessHet=0.3672;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1,1;MLEAF=0.031,0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.134;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,15,0:40:99:0|1:35906603_C_CA:469,544,1564,0,1020,975,544,1564,1020,1564:35906603	13	0	1	5
chr9	36966691	36966691	G	A	exonic	PAX5	.	nonsynonymous SNV	PAX5:NM_001280551:exon5:c.C314T:p.S105L	.	.	415	1105	2	0	0	2	0.000904159	.	.	138740	Leukemia,_acute_lymphoblastic,_susceptibility_to,_3|not_specified|not_provided	MONDO:MONDO:0014241,MedGen:C3809874,OMIM:615545|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.997	D	0.974	D	0.004	N	1.000	D	2.37	M	1.3	T	1.103	D	0.955	D	0.672	2.901	15.66	5.51	2.568	5.616	19.428	0.605	0.292988438015	0.0009	.	0.0007	0.0003	0.0003	0	0	0.0010	0.0011	0.0002	0.0006598	102	154602	rs137870876	0.0010	0.0010	0.0011	0.0010	0.0013	0.0010	0.0010	0.0012	0.0012	0.0002	0.0003	0	0	9.362e-05	0.0002	0.0013	0.0008	0.0003	0.0006	0.0006	0.0008	0.0004	0.0011	0.0005	0.0005	0.0009	0.0009	0.0001	0.0033	0.0001	0	0	0	0	0.0011	0.0005	0.0004	0.006	0.78490	D	0.049	0.79402	D	0.458	0.45525	P	0.017	0.37636	B	0.004009	0.34221	N	0.289697	0.999765	0.53665	D	2.215	0.62545	M	-4.26	0.98096	D	-4.13	0.83422	D	0.425	0.48319	1.103	0.99785	D	0.955	0.98531	D	10	0.25095463	0.42428	T	0.292988	0.90627	D	0.605	0.84452	.	.	0.910647563361	0.90974	0.5859175941848557	0.58521	0.907193985159	0.70892	0.731673717499	0.71751	T	0.53234	0.83839	D	0.0277112	0.55417	T	0.216588	0.84002	D	0.0788527879035309	0.09839	T	0.968203	0.88631	D	0.28643358	0.51659	0.25361952	0.51013	0.25854483	0.48904	0.27562985	0.53499	-12.155	0.85967	D	.	.	0.102	0.40473	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	5.133881	0.85920	28.7	0.99858115849424778	0.93639	0.89486	0.49981	D	AEFDBHCI	0.692559	0.65218	D	0.44761216933599	0.64068	4.653191	0.505466564131464	0.68358	5.208961	0.999999669254193	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	5.51	0.81769	5.661000	0.67694	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.343000	0.25501	0.0:0.0:1.0:0.0	19.428	0.94743	850	0.35610	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1006.98	37	chr9	36966691	.	G	A	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=789;ExcessHet=0.0000;FS=0.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-5.490e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1021,0,926	20	0	1	0
chr9	37857334	37857334	G	C	exonic	DCAF10	.	nonsynonymous SNV	DCAF10:NM_001286810:exon5:c.G629C:p.R210P	.	.	.	.	.	.	.	.	.	.	.	2221173	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.992	D	0.000	D	1.000	D	0.55	N	-0.48	T	-0.422	T	0.377	T	0.696	3.078	16.28	6.08	2.894	4.936	18.157	0.301	0.0291163469163	.	0.000199681	0.0004	0.0003	0.0003	0	0.0002	0.0005	0	0.0001	0.0003881	60	154602	rs201789974	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0002	0.0003	3.873e-05	0	0	0.0003	0.0008	0.0004	0.0002	0.0004	0.0004	0.0003	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0005	0	0	9.425e-05	0	0.0005	0.0024	0.0002	0.027	0.46513	D	0.178	0.29639	T	0.998	0.73220	D	0.992	0.80445	D	0.000106	0.50451	D	0.130406	0.999857	0.81001	D	1.355	0.33814	L	-0.48	0.70249	T	-0.23	0.10656	N	0.7	0.75192	-0.4216	0.71340	T	0.377	0.73438	T	10	0.3081535	0.48313	T	0.029116	0.51684	D	0.301	0.62179	.	.	0.305926609036	0.30200	0.6192333070205588	0.61856	1.51714929334	0.87364	0.563840389252	0.47809	T	0.019191	0.15335	T	-0.133422	0.30942	T	-0.0618349	0.66205	T	0.0369789269023827	0.03153	T	0.892511	0.62902	D	0.3154206	0.54251	0.39886782	0.64465	0.3154206	0.54251	0.39886782	0.64465	-2.66	0.06973	T	.	.	0.195	0.41602	B	.;.	.;.	5.030901	0.83670	28.1	0.99067828217782794	0.51645	0.97139	0.72918	D	AEFBI	0.859844	0.77759	D	0.601498158348991	0.73271	5.938697	0.670223826169196	0.80122	7.229713	0.999999715123337	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	6.08	6.08	0.98982	5.034000	0.63942	11.830000	0.97496	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.157	0.89628	562	0.71143	.;.	.	.	.	.	.	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	0.02381	918.98	34	chr9	37857334	.	G	C	918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.616e+00;DP=759;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=-6.970e-01;SOR=0.496	GT:AD:DP:GQ:PL	0/1:20,39:59:99:933,0,465	20	0	1	0
chr9	38578025	38578025	-	C	exonic	ANKRD18A	.	frameshift insertion	ANKRD18A:NM_147195:exon13:c.2370_2371insG:p.L791Afs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0003	0	0	0	0	0.0006	0	0	7.12e-05	11	154602	rs781032519	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	3.162e-05	0	0.0009	0	0	0	0.0002	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0003	9.759e-05	8.271e-05	0.0002	0.0001	7.252e-05	0	0	0.0003	0	0	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1853.94	33	chr9	38578025	.	G	GC	1853.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.61;MQRankSum=-6.920e-01;QD=19.72;ReadPosRankSum=0.895;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,48:94:99:0|1:38578025_G_GC:1868,0,1758:38578025	20	0	1	0
chr9	38578030	38578030	T	C	exonic	ANKRD18A	.	nonsynonymous SNV	ANKRD18A:NM_147195:exon13:c.A2366G:p.E789G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.979	D	.	.	1.000	D	1.65	L	1.21	T	-0.987	T	0.132	T	0.208	-0.152	3.258	1.53	0.956	0.831	5.203	0.114	0.0045813913296	.	.	0.0003	0	0	0	0	0.0006	0	0	5.17e-05	8	154602	rs764453639	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	3.163e-05	0	0.0009	0	0	0	0.0002	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0002	9.743e-05	8.257e-05	0.0002	0.0001	7.236e-05	0	0	0.0003	0	0	0	0.0002	0	0.0002	0.147	0.24955	T	0.011	0.79402	D	0.998	0.73220	D	0.979	0.74454	D	.	.	.	.	0.998403	0.22175	N	2.315	0.66250	M	1.21	0.37230	T	-3.59	0.69236	D	0.176	0.18920	-0.9869	0.33371	T	0.132	0.44366	T	9	0.0760555	0.11833	T	0.004581	0.11315	T	0.114	0.32008	.	.	0.181679512989	0.17746	0.04432178522843378	0.04376	0.0317747987355	0.03293	0.541878342628	0.44711	T	0.015111	0.12739	T	-0.185182	0.22969	T	-0.503778	0.21955	T	0.185119517160925	0.19552	T	0.522748	0.20104	T	0.16046144	0.35988	0.18585266	0.41722	0.16046144	0.35988	0.18585266	0.41722	-6.073	0.46886	T	.	.	0.085	0.15160	B	.;.	.;.	2.095139	0.26658	17.19	0.97709840543954951	0.35489	0.32982	0.24718	N	AEFI	0.058038	0.10858	N	-0.00316664198551648	0.41712	2.499927	-0.181680895152837	0.32209	1.830282	3.34028625401159E-5	0.03775	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.53	1.53	0.22224	1.381000	0.33969	0.089000	0.14491	0.312000	0.19173	1.000000	0.71638	0.000000	0.08366	0.071000	0.16709	0.0:0.0:0.0:1.0	5.203	0.14601	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1889.98	33	chr9	38578030	.	T	C	1889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.910e-01;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.59;MQRankSum=-6.140e-01;QD=20.11;ReadPosRankSum=0.208;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,49:94:99:0|1:38578025_G_GC:1904,0,1721:38578025	20	0	1	0
chr9	68303745	68303745	C	T	exonic	FOXD4L3	.	nonsynonymous SNV	FOXD4L3:NM_199135:exon1:c.C794T:p.P265L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.89	P	0.119	B	0.002	U	0.992	D	1.1	L	-3.58	D	0.434	D	0.646	D	0.516	2.477	14.24	3.84	1.847	1.502	13.590	0.500	0.534401664856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319728935	2.78e-06	3.42e-06	0	5.585e-06	9.03e-07	6.5e-07	4.4e-07	.	.	0	0	0	0	0	0	9.03e-07	5.018e-05	0	6.705e-06	6.575e-06	1.306e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	0.001	0.78490	D	0.005	0.72224	D	0.89	0.48942	P	0.119	0.32162	B	0.001556	0.38671	U	0.000000	0.992169	0.41571	D	1.585	0.39878	L	-3.58	0.94940	D	-4.24	0.76015	D	0.329	0.36989	0.434	0.89598	D	0.646	0.87661	D	10	0.23377943	0.40403	T	0.534402	0.95636	D	0.500	0.78350	0.478	0.55663	0.405700215632	0.40186	0.14764172549629637	0.14686	.	.	0.845856964588	0.88987	D	0.092622	0.39043	T	0.143185	0.68627	D	-0.0321018	0.68229	D	0.962273299694061	0.66321	D	0.710029	0.32075	T	0.23490195	0.46317	0.3231055	0.58245	0.23490195	0.46317	0.3231055	0.58244	-4.844	0.35100	T	.	.	0.375	0.58144	A	.	.	4.220850	0.63840	24.6	0.99833441992193084	0.91456	0.29321	0.23791	N	AEFI	0.079083	0.15967	N	-0.212140879842932	0.32634	1.842617	-0.251049265065709	0.29735	1.668367	1.02318275065074E-5	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.84	3.84	0.43422	1.147000	0.31213	5.639000	0.49142	0.444000	0.21144	0.005000	0.17040	0.999000	0.35428	0.012000	0.09680	0.0:1.0:0.0:0.0	13.590	0.61419	988	0.01987	.	.	.	.	.	.	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	0.02381	48.98	19	chr9	68303745	.	C	T	48.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.628;DP=498;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=37.84;MQRankSum=-3.090e-01;QD=3.06;ReadPosRankSum=-4.250e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:12,4:16:63:63,0,287	20	0	1	0
chr9	70413085	70413085	C	T	exonic	KLF9	.	nonsynonymous SNV	KLF9:NM_001206:exon1:c.G279A:p.M93I,	.	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.0	B	0.080	N	0.997	N	0	N	3.65	T	-0.934	T	0.008	T	0.118	1.190	9.838	2.98	0.456	0.188	9.299	0.074	0.00311411323187	0.0005	0.000199681	0.0008	9.612e-05	0.0003	0	0	0.0008	0.0022	0.0018	0.0006792	105	154602	rs138055699	0.0005	0.0005	0.0004	0.0006	0.0149	0.0005	0.0005	0.0124	0.0114	0.0007	0.0004	0.0018	2.519e-05	0	0.0149	0.0003	0.0010	0.0020	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	2.406e-05	0	0.0003	0.0029	0.0002	0	0.0204	0.0004	0.0005	0.0017	0.413	0.10052	T	0.395	0.15255	T	0.0	0.02946	B	0.0	0.01387	B	0.080144	0.20942	N	0.462132	0.997449	0.22656	N	1.04	0.26193	L	3.65	0.04267	T	-0.17	0.09627	N	0.035	0.01004	-0.9339	0.43560	T	0.008	0.02926	T	10	0.0052796006	0.00115	T	0.003114	0.06756	T	0.074	0.21613	0.201	0.11522	0.2338531098	0.23012	0.12663587151217223	0.12589	1.27576325961	0.82405	0.465395092964	0.34049	T	0.102808	0.41088	T	-0.650903	0.00072	T	-0.714538	0.05064	T	0.00682175009797909	0.00077	T	0.615039	0.23503	T	0.07083613	0.15635	0.08946862	0.20923	0.07083613	0.15634	0.08946862	0.20922	-3.032	0.10530	T	.	.	0.289	0.52127	B	.	.	2.239457	0.28593	17.85	0.94540981630195542	0.25049	0.65133	0.32636	D	ALL	0.180348	0.30765	N	-0.591363861453918	0.19205	1.003353	-0.434951774828082	0.23979	1.310577	0.999999997959888	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.85	2.98	0.33575	-0.041000	0.12036	1.505000	0.26983	0.599000	0.40250	0.016000	0.19238	1.000000	0.68203	1.000000	0.97212	0.0:0.8183:0.0:0.1817	9.299	0.36997	982	0.03397	.	.	.	.	.	.	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	0.02381	2701.98	34	chr9	70413085	.	C	T	2701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=-1.469e+00;SOR=0.707	GT:AD:DP:GQ:PL	0/1:94,107:201:99:2716,0,2168	20	0	1	0
chr9	77353445	77353445	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon53:c.A7339G:p.I2447V	Choreoacanthocytosis, Autosomal recessive	.	11	1491	18	2	0	22	0.00732357	.	.	508841	not_provided|Chorea-acanthocytosis|VPS13A-related_disorder	MedGen:C3661900|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.51	T	0.035	B	0.016	B	0.002	N	1.000	D	0.63	N	0.96	T	-1.086	T	0.056	T	0.085	0.024	4.136	2.87	0.302	1.551	5.560	0.035	0.00509907513593	0.0005	0.00239617	0.0017	9.733e-05	0.0004	0	0	0.0009	0.0011	0.0084	0.0015265	236	154602	rs142981309	0.0011	0.0011	0.0008	0.0014	0.0082	0.0010	0.0010	0.0077	0.0075	5.983e-05	0.0004	0.0039	2.526e-05	0	0.0038	0.0006	0.0012	0.0082	0.0006	0.0006	0.0004	0.0008	0.0077	0.0005	0.0005	0.0057	0.0051	0	0	0.0003	0.0032	0.0004	0	0.0068	0.0005	0.0010	0.0077	0.281	0.15665	T	0.291	0.21343	T	0.035	0.20614	B	0.012	0.17743	B	0.001897	0.37740	N	0.118206	0.921243	0.27288	N	0.345	0.11182	N	0.96	0.42888	T	-0.54	0.17834	N	0.474	0.52297	-1.0857	0.06281	T	0.056	0.23565	T	10	0.008465022	0.00192	T	0.005099	0.12939	T	0.035	0.08770	.	.	0.132336055621	0.12781	0.17412429234440926	0.17331	0.113962728729	0.12857	0.382533103228	0.22616	T	0.173373	0.52222	T	-0.60769	0.00131	T	-0.639425	0.09712	T	0.00726157394679778	0.00083	T	0.70393	0.31399	T	0.02107173	0.00691	0.025982434	0.00665	0.02000986	0.00545	0.021071348	0.00172	-3.329	0.15327	T	.	.	0.068	0.02797	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.529483	0.08981	5.764	0.67630093831559157	0.08412	0.40322	0.26411	N	AEGI	0.051549	0.09117	N	-0.886275842468932	0.11169	0.5375229	-0.739511580399801	0.15981	0.8431712	0.0156997794771085	0.12744	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.22	2.87	0.32523	1.595000	0.36318	3.080000	0.36236	-0.744000	0.03643	0.839000	0.30269	0.968000	0.29604	0.537000	0.29868	0.581:0.1358:0.2833:0.0	5.560	0.16423	543	0.72751	.;.;.;.;.;.;.	.	.	.	.	.	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	0.04762	1304.11	36	chr9	77353445	.	A	G	1304.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.68;DP=858;ExcessHet=0.1072;FS=1.538;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.960;SOR=0.858	GT:AD:DP:GQ:PL	0/1:36,23:59:99:616,0,929	19	0	2	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.765	19.11	5.5	2.594	9.672	19.387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	772.26	67	chr9	86018822	.	G	C	772.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.944e+00;DP=1493;ExcessHet=2.5830;FS=140.242;InbreedingCoeff=-0.2308;MLEAC=6;MLEAF=0.158;MQ=60.00;MQRankSum=0.00;QD=1.51;ReadPosRankSum=1.32;SOR=10.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,3:46:7:.:.:7,0,957	12	0	7	2
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	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;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:184,147:337:99:1159,0,2858	0	0	21	0
chr9	92332277	92332277	C	T	exonic	CENPP	.	nonsynonymous SNV	CENPP:NM_001012267:exon2:c.C215T:p.T72M,	.	.	.	.	.	.	.	.	.	.	.	3214923	CENPP-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.273	B	0.025	B	0.914	N	1.000	N	1.04	L	.	.	-1.014	T	0.047	T	0.161	1.874	12.23	-3.42	-0.406	-0.017	1.057	0.088	0.00171511684086	0.0025	0.000199681	0.0025	0.0014	0.0031	0	0.0020	0.0035	0.0033	0.0004	0.0025291	391	154602	rs150818648	0.0031	0.0031	0.0032	0.0029	0.0037	0.0030	0.0030	0.0036	0.0036	0.0007	0.0014	0	0	0.0019	0.0003	0.0037	0.0022	0.0004	0.0024	0.0024	0.0027	0.0021	0.0037	0.0022	0.0021	0.0033	0.0032	0.0013	0.0263	0.0010	0	0	0.0012	0	0.0037	0.0019	0	0.12	0.27904	T	0.031	0.53788	D	0.273	0.31830	B	0.025	0.20508	B	0.913925	0.07433	N	1.047120	1	0.08975	N	1.04	0.26193	L	.	.	.	-1.98	0.45769	N	0.223	0.25006	-1.0144	0.25529	T	0.047	0.20195	T	9	0.004699141	0.00099	T	0.001715	0.02856	T	0.088	0.25558	.	.	0.151104730317	0.14643	0.22143747676310072	0.22058	0.518581499259	0.49708	0.273312032223	0.06576	T	0.021612	0.23908	T	-0.510257	0.00500	T	-0.504772	0.21853	T	0.0364852906329134	0.03065	T	0.682432	0.30012	T	0.014493271	0.00096	0.054496653	0.09383	0.014493271	0.00095	0.054496653	0.09382	-4.977	0.36589	T	.	.	0.091	0.12938	B	.;.	.;.	1.244062	0.16399	12.52	0.95468417634710701	0.27013	0.01465	0.04892	N	AEFBI	0.025695	0.01804	N	-0.81307860153023	0.12976	0.6360832	-0.869970286276133	0.12809	0.6610004	0.247334690371519	0.18641	0.706298	0.61202	0	0.80507	0.99744	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.15	-3.42	0.04521	0.071000	0.14461	-1.484000	0.05335	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.3893:0.2011:0.2427:0.1668	1.057	0.01492	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1058.98	37	chr9	92332277	.	C	T	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=782;ExcessHet=0.0000;FS=2.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-4.350e-01;SOR=1.068	GT:AD:DP:GQ:PL	0/1:43,42:85:99:1073,0,1027	20	0	1	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:29,28,0,0,0,0:57:99:991,0,983,1078,1068,2146,1078,1068,2146,2146,1078,1068,2146,2146,2146,1078,1068,2146,2146,2146,2146	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:29,28,0,0,0,0:57:99:991,0,983,1078,1068,2146,1078,1068,2146,2146,1078,1068,2146,2146,2146,1078,1068,2146,2146,2146,2146	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:29,28,0,0,0,0:57:99:991,0,983,1078,1068,2146,1078,1068,2146,2146,1078,1068,2146,2146,2146,1078,1068,2146,2146,2146,2146	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	0/1:29,28,0,0,0,0:57:99:991,0,983,1078,1068,2146,1078,1068,2146,2146,1078,1068,2146,2146,2146,1078,1068,2146,2146,2146,2146	1	2	3	0
chr9	94320560	94320560	G	A	exonic	NUTM2F	.	nonsynonymous SNV	NUTM2F:NM_017561:exon5:c.C1016T:p.P339L,	.	.	542	974	5	1	0	7	0.00358056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.487	P	0.037	B	.	.	1.000	N	0.55	N	2.79	T	-1.056	T	0.026	T	0.15	-0.894	0.451	-2.4	-1.238	0.027	3.933	0.017	.	0.0009	0.00459265	0.0054	0	0.0008	0.0003	0.0005	0.0027	0.0049	0.0221	0.00146	38	26028	rs201095237	0.0022	0.0022	0.0017	0.0027	0.0189	0.0021	0.0021	0.0181	0.0178	0.0001	0.0008	0.0351	7.563e-05	0	0.0041	0.0003	0.0036	0.0189	0.0019	0.0019	0.0018	0.0021	0.0193	0.0018	0.0017	0.0161	0.0149	0.0001	0	0.0012	0.0386	0.0004	0	0.0034	0.0005	0.0028	0.0193	0.205	0.20002	T	0.355	0.18449	T	0.487	0.36886	P	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.97	0.24054	L	2.79	0.11839	T	-1.92	0.47683	N	0.129	0.12341	-1.0556	0.12882	T	0.026	0.11087	T	9	0.0039569736	0.00076	T	.	.	.	0.017	0.02790	.	.	0.0138822411134	0.00435	0.05624359009987112	0.05565	.	.	0.374657034874	0.21497	T	0.016144	0.13402	T	-0.666839	0.00057	T	-0.715708	0.05005	T	0.00377218578939083	0.00040	T	0.608739	0.24237	T	0.025171801	0.01426	0.03792947	0.03550	0.025171801	0.01425	0.03792947	0.03549	-5.655	0.43291	T	.	.	0.075	0.09288	B	.;.	.;.	1.304249	0.17066	12.94	0.30819484925188778	0.01705	0.00342	0.01773	N	AEFI	0.026488	0.01998	N	-1.32858351357419	0.03352	0.1495953	-1.49041234483898	0.02422	0.1113858	5.57576795787796E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.2	-2.4	0.06204	-1.468000	0.02456	-20.000000	0.00162	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3561:0.3502:0.2936	3.933	0.08794	917	0.20147	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	826.11	19	chr9	94320560	.	G	A	826.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.93;DP=543;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.63;MQRankSum=1.53;QD=17.21;ReadPosRankSum=-3.170e-01;SOR=0.758	GT:AD:DP:GQ:PL	0/1:7,11:18:99:353,0,202	19	0	2	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,5,6:11:99:.:.:435,253,238,189,0,191	2	0	1	0
chr9	104791984	104791984	C	G	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon43:c.G5772C:p.K1924N,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.247	B	0.088	B	0.000	D	1.000	D	1.415	L	-3.17	D	0.200	D	0.664	D	0.234	2.553	14.50	4.92	1.467	0.703	9.087	0.335	0.06221081517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0012	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0	5.055e-05	0	0	0.0002	0.0001	4.657e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.091	0.40110	T	0.247	0.31125	B	0.088	0.29688	B	0.000000	0.84330	D	0.045089	0.999755	0.48800	D	1.13	0.28900	L	-3.17	0.93054	D	-1.21	0.30762	N	0.552	0.57775	0.200	0.85915	D	0.664	0.88344	D	10	0.61665916	0.67744	D	0.062211	0.68581	D	0.335	0.65718	0.505	0.59924	0.9309695667	0.93025	0.7757620043553375	0.77526	0.840773140511	0.68051	0.697716891766	0.66815	T	0.417549	0.77016	T	0.0336622	0.56210	T	-0.189423	0.55645	T	0.914153516292572	0.57069	D	0.827217	0.49094	T	0.21141762	0.43466	0.13099158	0.31463	0.21141762	0.43466	0.13099158	0.31462	-2.565	0.06242	T	0.3071058489311145	0.40482	0.557	0.67094	A	.	.	3.371619	0.46592	22.3	0.995040822481701	0.68206	0.88309	0.48179	D	ALL	0.483156	0.52372	N	-0.0355436023887051	0.40251	2.387167	0.105231415740194	0.44815	2.756065	0.999999999999994	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.82	4.92	0.64147	1.071000	0.30278	1.106000	0.24114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.733:0.0:0.267	9.087	0.35749	950	0.11238	ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	133.7	66	chr9	104791984	.	C	G	133.7	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.995e+00;DP=1874;ExcessHet=0.3300;FS=259.479;InbreedingCoeff=-0.0772;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=1.26;SOR=11.043	GT:AD:DP:GQ:PL	0/1:91,41:132:92:92,0,1578	18	0	3	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.991	D	0.000	D	1.000	D	0.53	N	4.0	T	-1.074	T	0.061	T	0.838	4.266	22.3	5.66	2.151	7.665	15.905	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2812	2879.53	98	chr9	106974250	.	T	C	2879.53	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-3.477e+00;DP=2598;ExcessHet=4.7172;FS=245.377;InbreedingCoeff=-0.3916;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.97;ReadPosRankSum=1.47;SOR=12.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,32:138:99:0|1:106974250_T_C:296,0,3602:106974250	7	0	9	5
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.997	D	0.000	D	1.000	D	0.845	L	4.01	T	-1.115	T	0.065	T	0.14	5.527	35	5.66	2.662	9.434	19.759	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.075	989.01	80	chr9	106974252	.	G	A	989.01	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-4.111e+00;DP=1533;ExcessHet=0.3300;FS=217.469;InbreedingCoeff=-0.0966;MLEAC=3;MLEAF=0.075;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.52;SOR=9.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,29:136:99:0|1:106974250_T_C:228,0,3678:106974250	17	0	3	1
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.977	D	0.002	N	0.528	D	1.87	L	0.88	T	-0.548	T	0.199	T	0.636	0.801	8.213	4.73	1.367	2.869	8.596	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1628.87	70	chr9	110137052	.	G	C	1628.87	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-2.866e+00;DP=1349;ExcessHet=3.5521;FS=192.403;InbreedingCoeff=-0.3771;MLEAC=10;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.60;ReadPosRankSum=0.889;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,23:91:99:0|1:110137052_G_C:236,0,2087:110137052	6	0	8	7
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.996	D	0.000	D	0.802	D	1.445	L	0.85	T	-0.701	T	0.211	T	0.556	0.977	8.990	4.46	2.691	3.205	11.752	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:68,0,23:91:99:0|1:110137052_G_C:236,436,2588,0,2153,2087:110137052	10	0	2	4
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.989	D	0.000	D	0.555	D	1.79	L	0.82	T	-0.607	T	0.231	T	0.281	1.466	10.85	4.46	2.691	3.205	11.752	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:68,0,23:91:99:0|1:110137052_G_C:236,436,2588,0,2153,2087:110137052	10	0	2	4
chr9	114406357	114406357	C	T	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1181A:p.R394H	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	0.9204	0.728	900897	not_provided|Usher_syndrome_type_2D|Autosomal_recessive_nonsyndromic_hearing_loss_31|not_specified	MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	D	1.000	D	2.295	M	3.6	T	-1.059	T	0.095	T	0.826	4.570	24.8	5.29	2.485	7.165	18.935	0.726	0.0734952988052	.	.	0.0002	0	0	0.0001	0	6.091e-05	0	0.0011	0.0001488	23	154602	rs555619169	9.578e-05	9.577e-05	8.032e-05	0.0001	0.0007	8.243e-05	7.784e-05	0.0006	0.0005	2.987e-05	8.944e-05	0	0.0002	0	0.0003	4.496e-05	0.0002	0.0007	7.878e-05	7.873e-05	6.424e-05	9.399e-05	0.0010	4.493e-05	3.509e-05	0.0004	0.0003	7.218e-05	0	0	0	0	0	0	4.41e-05	0.0005	0.0010	0.0	0.91255	D	0.095	0.58613	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	3.6	0.11622	T	-1.86	0.43524	N	0.609	0.79503	-1.0594	0.11905	T	0.095	0.35844	T	10	0.3229587	0.49639	T	0.073495	0.71803	D	0.726	0.90369	0.298	0.26362	0.573986203122	0.57066	0.45742748042426795	0.45660	0.637802476307	0.57518	0.665286183357	0.62165	T	0.235901	0.60326	T	-0.150902	0.28171	T	-0.0623411	0.66168	T	0.336134612560272	0.26470	T	0.882612	0.60317	D	0.21653922	0.44114	0.19265828	0.42792	0.22320576	0.44937	0.15937477	0.37171	-5.365	0.40785	T	.	.	0.256	0.50609	B	.;.;.	.;.;.	5.520667	0.91775	32	0.99959000500834505	0.99990	0.94106	0.60130	D	AEFDBCI	0.886241	0.81746	D	0.747605229152307	0.82746	7.839989	0.69043656249513	0.81653	7.577103	0.999999999999999	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.283000	0.78001	4.838000	0.45259	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1718.98	34	chr9	114406357	.	C	T	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.360e-01;DP=1637;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.163;SOR=0.694	GT:AD:DP:GQ:PL	0/1:100,72:172:99:1733,0,2388	20	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.956	D	0.000	D	1.000	D	2.295	M	3.72	T	-1.147	T	0.071	T	0.888	2.729	15.09	4.38	2.485	0.438	9.668	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3529	5368.01	152	chr9	114406374	.	C	G	5368.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.027e+00;DP=4227;ExcessHet=9.6308;FS=138.874;InbreedingCoeff=-0.5312;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.063;SOR=12.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,42:184:99:0|1:114406374_C_G:398,0,4756:114406374	5	0	12	4
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.295	M	3.67	T	-1.010	T	0.111	T	0.82	3.969	20.3	5.29	2.485	5.391	18.935	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2632	4474.23	143	chr9	114406375	.	C	G	4474.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.573e+00;DP=3997;ExcessHet=6.1002;FS=130.641;InbreedingCoeff=-0.3565;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.30;ReadPosRankSum=0.216;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,42:184:99:0|1:114406374_C_G:398,0,4756:114406374	9	0	10	2
chr9	119208718	119208718	C	G	splicing	BRINP1	NM_014618:exon7:c.1145+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.184	21.7	5.62	2.633	7.487	18.649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.131e-05	0.0003	2.326e-05	1.933e-05	3e-05	1.527e-05	1.33e-05	1.754e-05	1.51e-05	3e-05	0	3.834e-05	0	0	0	2.529e-05	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440698	0.92054	D	0.395255	0.91956	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.179251	0.94736	34	0.99491738618907188	0.67516	0.99210	0.92855	D	AEFBI	.	.	.	1.19648723870925	0.99517	23.388	1.05549675341639	0.99442	22.75559	0.999999999988067	0.74766	0.115753	0.02995	0	0.063388	0.01293	0	0.17184	0.04098	0	0.057018	0.00518	0	0.98647	0.94587	5.62	5.62	0.85714	7.568000	0.81546	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:1.0:0.0:0.0	18.649	0.91383	614	0.66605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	83.09	37	chr9	119208718	.	C	G	83.09	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.621e+00;DP=1029;ExcessHet=0.0000;FS=226.626;InbreedingCoeff=-0.0313;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=1.14;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,33:91:97:.:.:97,0,814	20	0	1	0
chr9	122629374	122629374	G	T	exonic	OR1B1	.	nonsynonymous SNV	OR1B1:NM_001004450:exon1:c.C162A:p.D54E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.001	D	0.927	N	2.17	M	4.19	T	-1.144	T	0.014	T	0.088	1.837	12.10	3.51	1.191	-0.023	8.092	0.079	.	.	0.00459265	0.0025	0	8.645e-05	0.0345	0	1.499e-05	0	0.0005	0.0022898	354	154602	rs75769247	0.0007	0.0007	0.0008	0.0007	0.0235	0.0007	0.0007	0.0223	0.0217	0	2.236e-05	0.0004	0.0235	0	0.0003	4.496e-06	0.0019	0.0003	0.0012	0.0012	0.0011	0.0013	0.0315	0.0010	0.0010	0.0276	0.0261	0	0	0.0002	0.0003	0.0315	0	0	0	0.0033	0.0010	.	.	.	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000530	0.43581	D	0.000000	0.92697	0.27156	N	1.505	0.38159	L	.	.	.	.	.	.	.	.	-1.1442	0.01209	T	0.014	0.05657	T	10	0.0051119924	0.00111	T	.	.	.	.	.	0.516	0.61611	.	.	0.06984911049996484	0.06922	.	.	0.23077185452	0.02025	T	0.007236	0.06655	T	-0.659164	0.00064	T	-0.688919	0.06451	T	0.114821114042476	0.13916	T	0.511449	0.16356	T	0.122034945	0.28685	0.22819982	0.47854	0.122034945	0.28685	0.22819982	0.47853	-6.114	0.47223	T	.	.	0.436	0.61526	A	.	.	2.609492	0.33888	19.47	0.99544033345458705	0.70711	0.37035	0.25670	N	AEFBI	0.120404	0.23457	N	0.0574355196674351	0.44486	2.721706	-0.141016013171432	0.33756	1.934278	9.06501141833649E-4	0.07987	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.41	3.51	0.39297	0.142000	0.15917	-0.065000	0.12373	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.1888:0.0:0.8112:0.0	8.092	0.29964	964	0.07719	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1282.98	84	chr9	122629374	.	G	T	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.827;DP=2028;ExcessHet=0.0000;FS=1.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=1.60;SOR=0.564	GT:AD:DP:GQ:PL	0/1:67,53:120:99:1297,0,1674	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.012	B	0.119	N	1.000	N	1.045	L	8.47	T	-0.981	T	0.000	T	0.241	-0.246	2.815	3.09	0.623	0.717	7.537	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	0	0	0	0	0	0	0	0	0	0	0	0.4286	10749.2	301	chr9	122724732	.	T	C	10749.2	.	AC=12;AF=0.429;AN=28;BaseQRankSum=8.60;DP=6952;ExcessHet=9.6308;FS=27.314;InbreedingCoeff=-0.5849;MLEAC=15;MLEAF=0.536;MQ=58.33;MQRankSum=-1.529e+01;QD=2.73;ReadPosRankSum=-7.300e+00;SOR=4.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,45:288:99:0|1:122724732_T_C:987,0,9979:122724732	2	0	12	7
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.003	B	0.363	N	1.000	N	-0.46	N	0.93	T	-1.008	T	0.042	T	0.097	-1.802	0.009	-7.85	-1.692	-2.805	8.760	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	.	.	.	.	.	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	0.3529	6434.01	290	chr9	122724738	.	T	C	6434.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.102;DP=5824;ExcessHet=9.6308;FS=29.363;InbreedingCoeff=-0.5013;MLEAC=14;MLEAF=0.412;MQ=58.45;MQRankSum=-1.685e+01;QD=1.74;ReadPosRankSum=-6.376e+00;SOR=6.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,30:270:99:0|1:122724732_T_C:537,0,9966:122724732	5	0	12	4
chr9	125236755	125236755	T	A	exonic	HSPA5	.	nonsynonymous SNV	HSPA5:NM_005347:exon8:c.A1802T:p.K601M,	.	.	.	.	.	.	.	.	.	.	.	723330	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.708	P	0.778	P	0.000	D	1.000	D	0.145	N	2.54	T	-1.036	T	0.030	T	0.596	3.510	17.93	4.87	1.955	6.250	13.957	0.244	.	.	0.00199681	0.0011	0	8.637e-05	0.0157	0	0	0	0.0001	0.0009896	153	154602	rs143920039	0.0005	0.0005	0.0005	0.0005	0.0175	0.0005	0.0005	0.0164	0.0160	0	2.239e-05	0	0.0175	0	0	8.995e-07	0.0004	0.0003	0.0005	0.0005	0.0003	0.0006	0.0127	0.0004	0.0003	0.0102	0.0094	0	0	6.539e-05	0	0.0127	0	0	1.47e-05	0	0.0004	0.002	0.72154	D	0.005	0.72224	D	0.708	0.42036	P	0.778	0.57212	P	0.000000	0.84330	D	0.047544	0.999996	0.58761	D	.	.	.	2.54	0.13916	T	-0.5	0.15782	N	0.582	0.60325	-1.0356	0.18668	T	0.030	0.12760	T	10	0.00803262	0.00182	T	.	.	.	0.244	0.55061	.	.	0.363734036182	0.35979	0.6434487209229083	0.64279	2.34817919913	0.96799	0.777296900749	0.78520	T	0.109227	0.42292	T	-0.417924	0.01764	T	-0.360771	0.37964	T	0.092604069324358	0.11522	T	0.976802	0.91949	D	0.8871806	0.90267	0.44057533	0.67371	0.8871806	0.90268	0.44057533	0.67371	-6.557	0.50724	T	.	.	0.226	0.45798	B	.	.	5.097186	0.85145	28.5	0.99510660066552392	0.68618	0.97292	0.73837	D	AEFBCI	0.863692	0.78229	D	0.322924629608043	0.57326	3.899619	0.404874813769774	0.61868	4.393068	0.999999999830678	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.638787	0.57140	0	.	.	4.87	4.87	0.62877	5.130000	0.64587	6.246000	0.55309	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.957	0.63668	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	0.02381	1439.98	33	chr9	125236755	.	T	A	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.308e+00;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.961;QD=11.71;ReadPosRankSum=-2.311e+00;SOR=0.638	GT:AD:DP:GQ:PL	0/1:65,58:123:99:1454,0,1882	20	0	1	0
chr9	125915818	125915818	C	T	exonic	PBX3	.	nonsynonymous SNV	PBX3:NM_001134778:exon3:c.C182T:p.A61V	.	.	425	1071	24	2	0	28	0.0129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	1.46	T	-0.808	T	0.169	T	0.534	3.025	16.09	5.87	2.941	5.472	20.583	0.252	.	0.0061	0.00279553	0.0068	0.0021	0.0065	0	0.0009	0.0081	0.0145	0.0101	0.0067981	1051	154602	rs145687528	0.0086	0.0086	0.0085	0.0087	0.0135	0.0085	0.0084	0.0111	0.0105	0.0016	0.0075	0.0146	0	0.0014	0.0135	0.0091	0.0085	0.0114	0.0062	0.0062	0.0063	0.0061	0.0113	0.0058	0.0057	0.0099	0.0094	0.0017	0	0.0113	0.0133	0	0.0012	0.0170	0.0081	0.0128	0.0100	0.014	0.59928	D	0.013	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.045618	1	0.81001	D	2.215	0.62545	M	1.46	0.32238	T	-2.52	0.58896	D	0.398	0.43899	-0.8085	0.54641	T	0.169	0.50842	T	10	0.008377612	0.00190	T	.	.	.	0.252	0.56159	.	.	0.364535869594	0.36064	0.5215813592853803	0.52081	0.900687736312	0.70621	0.659279584885	0.61305	T	0.152456	0.75873	T	-0.365064	0.03852	T	-0.286778	0.46107	T	0.0387569566226687	0.03466	T	0.945505	0.79398	D	0.46056888	0.64706	0.38526508	0.63447	0.46056888	0.64707	0.38526508	0.63447	-6.053	0.46819	T	.	.	0.266	0.64649	B	.;.;.;.;.	.;.;.;.;.	5.139392	0.86042	28.8	0.99781126894636163	0.86780	0.96113	0.67592	D	AEFBI	0.563643	0.57075	D	0.649353472822166	0.76325	6.46599	0.633237521612499	0.77366	6.665838	1.0	0.98316	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.756605	0.99741	0	.	.	5.87	5.87	0.94266	5.770000	0.68526	7.697000	0.66086	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.583	0.99411	211	0.91797	.;PBX;PBX;PBX;.	.	.	.	.	chr9:128678097	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3313.68	35	chr9	125915818	.	C	T	3313.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.300e-02;DP=894;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-5.250e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/1:42,36:78:99:869,0,945	18	0	3	0
chr9	127435163	127435163	G	A	exonic	ZNF79	.	nonsynonymous SNV	ZNF79:NM_001286696:exon3:c.G107A:p.R36Q	.	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.001	B	.	.	1.000	N	1.345	L	5.22	T	-0.957	T	0.003	T	0.086	1.607	11.33	-2.4	-0.420	-0.356	8.140	0.023	0.00332175526705	0.0002	0.000998403	0.0008	0.0002	0.0008	0	0	0.0010	0.0011	0.0013	0.0007827	121	154602	rs192043906	0.0007	0.0007	0.0006	0.0007	0.0137	0.0006	0.0006	0.0113	0.0104	0.0003	0.0015	0.0021	2.522e-05	1.873e-05	0.0137	0.0005	0.0017	0.0013	0.0005	0.0005	0.0006	0.0005	0.0011	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0011	0.0017	0	0	0.0136	0.0006	0.0014	0.0004	0.024	0.47745	D	0.045	0.51737	D	0.006	0.13644	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	2.165	0.60562	M	5.22	0.01150	T	-2.19	0.52776	N	0.238	0.27910	-0.9571	0.39717	T	0.003	0.00929	T	9	0.0062482655	0.00141	T	0.003322	0.07390	T	0.023	0.04649	.	.	0.247322355667	0.24350	0.12266200541019877	0.12192	0.1364358858	0.15394	0.316064625978	0.12824	T	0.09501	0.64465	T	-0.654491	0.00068	T	-0.748286	0.03553	T	0.0107753626664327	0.00152	T	0.610439	0.23144	T	0.06905537	0.15097	0.09428162	0.22308	0.06905537	0.15097	0.09428162	0.22308	-5.433	0.41236	T	.	.	0.107	0.20078	B	.;.;.	.;.;.	1.009862	0.13890	10.45	0.94382779265154004	0.24758	0.01954	0.05935	N	AEFDBI	0.018082	0.00522	N	-1.24330538138448	0.04389	0.1979545	-1.34712685166379	0.03840	0.179934	0.965062819889041	0.28805	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.42	-2.4	0.06204	-0.296000	0.08323	-0.139000	0.11537	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.6709:0.0:0.3291:0.0	8.140	0.30238	513	0.74941	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	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	0.02381	966.98	35	chr9	127435163	.	G	A	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.426;SOR=0.617	GT:AD:DP:GQ:PL	0/1:44,40:84:99:981,0,1055	20	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,16,0:64:99:0|1:127707148_G_C:233,0,1610,377,1658,2034:127707148	3	0	11	1
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.957	D	0.799	P	0.000	N	1.000	D	2.175	M	1.01	T	-0.875	T	0.164	T	0.368	4.702	26.1	4.33	0.927	4.094	9.215	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1341.42	63	chr9	127707149	.	T	C	1341.42	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-1.954e+00;DP=1423;ExcessHet=6.1002;FS=146.491;InbreedingCoeff=-0.3339;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.801;SOR=10.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,16:64:99:0|1:127707148_G_C:233,0,1610:127707148	10	0	10	1
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.993	D	0.000	D	1.000	D	2.175	M	1.1	T	-0.776	T	0.227	T	0.925	4.505	24.2	5.46	2.075	5.688	13.490	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1185.39	50	chr9	127707150	.	T	C	1185.39	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.872e+00;DP=1368;ExcessHet=4.7172;FS=144.390;InbreedingCoeff=-0.2762;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.908;SOR=10.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,16:64:99:0|1:127707148_G_C:233,0,1610:127707148	12	0	9	0
chr9	128178957	128178957	C	A	exonic	CIZ1	.	nonsynonymous SNV	CIZ1:NM_001257976:exon7:c.G947T:p.R316M	.	.	419	1098	5	0	0	5	0.00227169	.	.	2091102	Dystonic_disorder	Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.799	P	0.299	B	0.235	N	0.981	N	0	N	2.03	T	-1.082	T	0.034	T	0.218	2.041	12.78	-3.2	-0.645	-1.683	4.105	0.025	0.00795204537458	7.7e-05	0.000199681	0.0002	0	8.637e-05	0	0	2.997e-05	0	0.0012	0.0001552	24	154602	rs200695614	0.0001	0.0001	8.442e-05	0.0001	0.0012	9.095e-05	8.601e-05	0.0007	0.0006	0	8.944e-05	0	0	0	0.0012	5.126e-05	0.0002	0.0008	5.257e-05	5.251e-05	3.857e-05	6.721e-05	0.0006	2.557e-05	1.83e-05	0.0002	9.003e-05	0	0	0	0	0	0	0	7.354e-05	0	0.0006	0.126	0.29158	T	0.13	0.41573	T	0.553	0.38185	P	0.157	0.34536	B	0.234629	0.03542	N	1.566530	0.980789	0.39704	D	1.1	0.28011	L	1.45	0.32482	T	-0.78	0.23156	N	0.231	0.25989	-1.0820	0.06965	T	0.034	0.14509	T	9	0.013218194	0.00281	T	0.007952	0.21084	T	0.025	0.05312	.	.	0.285775778912	0.28195	0.20896885165519433	0.20812	.	.	0.284954488277	0.08193	T	0.012513	0.10987	T	-0.542285	0.00325	T	-0.602172	0.12629	T	0.0155556045949235	0.00353	T	0.386661	0.14792	T	0.0342271	0.03801	0.027999382	0.00997	0.0342271	0.03800	0.027999382	0.00996	-7.935	0.60626	D	.	.	0.219	0.54768	B	.;.;.;.;.	.;.;.;.;.	0.626643	0.09948	6.707	0.90496951834362671	0.19754	0.02997	0.07858	N	AEFBHCI	0.082804	0.16769	N	-1.23860999102059	0.04451	0.2009416	-1.35117174905521	0.03792	0.177613	0.999997801350211	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.12	-3.2	0.04838	-0.580000	0.05920	-1.763000	0.04771	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2567:0.2993:0.0:0.4441	4.105	0.09504	448	0.79501	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1768.98	41	chr9	128178957	.	C	A	1768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.190e-01;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=0.190;SOR=0.743	GT:AD:DP:GQ:PL	0/1:56,66:122:99:1783,0,1420	20	0	1	0
chr9	128222504	128222504	G	C	exonic	DNM1	.	unknown	UNKNOWN,	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4	H	-2.56	D	1.036	D	0.888	D	0.899	4.936	28.6	5.13	1.564	9.869	15.508	0.864	0.574462998864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.68	0.94442	H	-2.56	0.89627	D	-7.01	0.93764	D	0.911	0.92784	1.036	0.97824	D	0.888	0.96288	D	10	0.97896105	0.97796	D	0.574463	0.96164	D	0.864	0.95876	0.901	0.97816	0.930743127106	0.93003	0.976113879073737	0.97601	2.5862836791	0.98110	0.913561940193	0.97795	D	0.899489	0.98018	D	0.481517	0.93753	D	0.453889	0.93674	D	0.999663472175598	0.98390	D	0.999394	0.99801	D	0.9834653	0.99363	0.9655975	0.99260	0.9834653	0.99363	0.9655975	0.99261	-12.838	0.89438	D	0.8940218923530909	0.94775	1.0	0.99952	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.506691	0.91640	32	0.99932305527895715	0.99439	0.99372	0.95168	D	AEFBI	0.971932	0.99388	D	1.01847129112068	0.96286	14.51336	0.929562508321978	0.96736	15.07807	0.999999999843717	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	6.03	5.13	0.69729	10.003000	0.99689	11.838000	0.97738	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0662:0.0:0.9338:0.0	15.508	0.75490	309	0.87553	Dynamin central domain;.;.;.;Dynamin central domain;.;Dynamin central domain;.;Dynamin central domain	.	.	.	.	.	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	0.025	129.33	63	chr9	128222504	.	G	C	129.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.281e+00;DP=1538;ExcessHet=0.0000;FS=278.617;InbreedingCoeff=-0.0374;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.20;SOR=8.525	GT:AD:DP:GQ:PL	0/1:97,39:136:99:143,0,1846	19	0	1	1
chr9	131477809	131477809	A	C	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384823:exon16:c.A2390C:p.Y797S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	1.0	D	0.996	D	0.002	U	1.000	D	1.7	L	4.34	T	-1.012	T	0.023	T	0.691	1.542	11.11	3.83	0.854	3.128	10.077	0.168	0.0756518760706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.345	0.50809	T	0.999	0.77913	D	0.994	0.82059	D	0.001839	0.37892	U	0.000000	0.999991	0.58761	D	2.51	0.73131	M	4.27	0.02513	T	-3.84	0.77143	D	0.538	0.56748	-1.0121	0.26259	T	0.023	0.09923	T	10	0.4968025	0.61314	T	0.075652	0.72340	D	0.168	0.42943	0.398	0.42590	0.189391138174	0.18552	0.5554234286003399	0.55469	0.334470090131	0.35464	0.394221782684	0.24263	T	0.256347	0.62724	T	-0.0203787	0.48800	T	-0.267049	0.48118	T	0.565563093515402	0.35065	D	0.888211	0.61727	D	0.22264552	0.44868	0.2599565	0.51752	0.22264552	0.44868	0.2599565	0.51751	-0.649	0.00683	T	.	.	0.107	0.25364	B	.;.	.;.	2.287237	0.29252	18.06	0.94977512766355476	0.25913	0.76889	0.37748	D	AEFDGBHCI	0.134290	0.25425	N	-0.185495193858954	0.33738	1.917504	-0.330531401015791	0.27117	1.502536	0.999999733851306	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.98	3.83	0.43287	2.359000	0.43797	5.342000	0.48348	-0.054000	0.16847	0.028000	0.20300	1.000000	0.68203	0.110000	0.18741	0.9204:0.0:0.0796:0.0	10.077	0.41539	483	0.77230	.;.	.	.	.	.	.	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	0.1071	199.72	40	chr9	131477809	.	A	C	199.72	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.421e+00;DP=1077;ExcessHet=0.3300;FS=86.704;InbreedingCoeff=-0.1996;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.22;ReadPosRankSum=1.87;SOR=7.070	GT:AD:DP:GQ:PL	0/1:27,14:41:82:82,0,623	11	0	3	7
chr9	131519447	131519447	C	G	exonic	POMT1	.	nonsynonymous SNV	POMT1:NM_001353200:exon13:c.C1089G:p.S363R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, Autosomal recessive	.	0	1496	26	0	0	26	0.00861498	.	.	172243	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K|Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1|Walker-Warburg_congenital_muscular_dystrophy|not_provided|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1	MedGen:CN169374|MONDO:MONDO:0012248,MedGen:C1836373,OMIM:609308,Orphanet:86812|MONDO:MONDO:0013159,MedGen:C5436962,OMIM:613155|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:C3661900|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.48	T	0.112	B	0.051	B	0.014	N	0.980	N	1.87	L	-1.44	T	-0.560	T	0.518	D	0.757	0.551	6.981	4.63	1.269	1.197	4.627	0.508	0.158554645332	0.0007	0.000599042	0.0016	0	0.0026	0	0	0.0023	0.0053	0.0014	0.0006533	101	154602	rs150367385	0.0012	0.0011	0.0011	0.0012	0.0209	0.0011	0.0011	0.0178	0.0167	0.0005	0.0033	0.0034	0	0.0007	0.0209	0.0010	0.0020	0.0008	0.0012	0.0012	0.0012	0.0012	0.0028	0.0011	0.0010	0.0021	0.0019	0.0004	0	0.0028	0.0037	0	0.0008	0.0102	0.0013	0.0047	0.0006	0.181	0.26300	T	0.401	0.38450	T	0.0	0.26290	B	0.003	0.25434	B	0.013522	0.28812	N	0.466395	0.979977	0.25145	N	1.575	0.39704	L	-1.59	0.89692	D	-1.05	0.29323	N	0.784	0.87157	-0.5605	0.66385	T	0.518	0.81951	D	10	0.015325069	0.00322	T	0.158555	0.83893	D	0.508	0.78848	0.655	0.79276	0.879825153453	0.87865	0.4723707741962653	0.47156	0.278320214035	0.30320	0.427245855331	0.28833	T	0.297146	0.66976	T	-0.123257	0.32593	T	0.0471233	0.73395	D	0.0129226239014529	0.00223	T	0.855914	0.54393	D	0.03669951	0.04566	0.057629783	0.10508	0.038118996	0.05018	0.046753403	0.06587	-4.638	0.33979	T	0.21541397568556714	0.28961	0.306	0.59986	B	.;.;.;.;.;.	.;.;.;.;.;.	2.589032	0.33582	19.38	0.87287446252699985	0.17120	0.87046	0.46470	D	AEFDGBCI	0.432311	0.49424	N	-0.273315332885108	0.30181	1.680578	-0.159350550316487	0.33051	1.886534	0.991744367034224	0.32594	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	4.63	0.57175	1.254000	0.32500	3.925000	0.40497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.321000	0.24994	0.1727:0.6348:0.0:0.1926	4.627	0.11867	406	0.82375	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.04762	3433.11	43	chr9	131519447	.	C	G	3433.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.055e+00;DP=1058;ExcessHet=0.1072;FS=8.427;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=1.54;SOR=1.129	GT:AD:DP:GQ:PL	0/1:81,67:148:99:1596,0,2143	19	0	2	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,120,0:120:99:3471,360,0,3471,360,3471	0	17	3	0
chr9	133400467	133400467	A	C	exonic	STKLD1	.	nonsynonymous SNV	STKLD1:NM_153710:exon12:c.A1136C:p.H379P,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.987	D	0.694	P	0.000	D	1.000	N	2.125	M	0.52	T	-0.559	T	0.374	T	0.753	3.025	16.09	4.69	1.950	3.854	10.437	0.428	0.246884017737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.0	0.92824	D	0.987	0.61912	D	0.694	0.53938	P	0.000001	0.62929	D	0.000000	0.999997	0.08975	N	.	.	.	-0.49	0.70365	T	-6.13	0.90100	D	0.581	0.60241	-0.5594	0.66427	T	0.374	0.73272	T	10	0.9033114	0.89695	D	0.246884	0.88946	D	0.428	0.73517	0.695	0.83219	0.538097488659	0.53462	0.6087356749912478	0.60805	0.543882179362	0.51451	.	.	.	0.219431	0.58244	T	0.0880837	0.62972	D	-0.0143962	0.69397	D	0.8922398686409	0.54330	D	0.405859	0.10416	T	0.41660953	0.61865	0.5497884	0.73970	0.41660953	0.61866	0.5497884	0.73970	-10.233	0.75294	D	.	.	0.474	0.63381	A	.	.	3.212399	0.43735	21.8	0.92972630634471787	0.22552	0.36211	0.25481	N	AEFDGBHCI	0.217239	0.34239	N	0.0794582208197005	0.45506	2.805904	-0.0654175682371299	0.36829	2.148458	0.999999862223196	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	3.771000	0.55027	7.399000	0.58563	0.740000	0.86194	0.479000	0.26792	1.000000	0.68203	0.004000	0.06068	1.0:0.0:0.0:0.0	10.437	0.43629	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	958.98	33	chr9	133400467	.	A	C	958.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.738e+00;DP=801;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.96;ReadPosRankSum=0.786;SOR=0.856	GT:AD:DP:GQ:PL	0/1:62,45:107:99:973,0,1628	20	0	1	0
chr9	136383545	136383545	-	GCTGCT	exonic	SNAPC4	.	nonframeshift insertion	SNAPC4:NM_003086:exon15:c.1623_1624insAGCAGC:p.S542_E543insSS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6548.32	36	chr9	136383542	.	CGCT	C,CGCTGCTGCT	6548.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.600e-02;DP=974;ExcessHet=0.9430;FS=6.521;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-6.600e-02;SOR=0.992	GT:AD:DP:GQ:PL	0/1:34,16,0:50:99:570,0,1379,672,1428,2100	13	1	6	0
chr9	136388503	136388503	C	T	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon10:c.G1064A:p.R355H,	.	.	419	1099	4	0	0	4	0.00181653	.	.	3326140	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.56	P	0.054	B	0.305	N	0.989	N	1.095	L	1.53	T	-1.049	T	0.039	T	0.159	1.840	12.11	1.2	0.356	1.366	6.492	0.037	0.00908251394133	7.7e-05	.	0.0002	0	0	0	0.0005	0.0002	0	0.0008	0.0001876	29	154602	rs367652103	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	2.992e-05	0	0	0	0.0002	0.0002	0.0001	0.0001	0.0007	0.0001	0.0001	8.991e-05	0.0002	0.0002	8.159e-05	6.717e-05	0.0001	8.876e-05	7.212e-05	0	0	0	0	0.0002	0	0.0002	0	0.0002	0.52	0.07259	T	0.488	0.11621	T	0.56	0.38344	P	0.054	0.25828	B	0.305144	0.14529	N	0.698003	0.98853	0.24399	N	1.635	0.41844	L	1.53	0.30401	T	-1.37	0.33998	N	0.298	0.33687	-1.0489	0.14705	T	0.039	0.16806	T	10	0.037701428	0.02140	T	0.009083	0.23893	T	0.037	0.09474	.	.	0.279776271856	0.27574	0.12425704924794591	0.12351	.	.	0.194771260023	0.00321	T	0.00553	0.14390	T	-0.47115	0.00836	T	-0.557066	0.16653	T	0.0830501907560315	0.10373	T	0.770723	0.40088	T	0.017756497	0.00300	0.028902236	0.01172	0.017756497	0.00300	0.028902236	0.01172	-6.529	0.50510	T	.	.	0.070	0.03552	B	.;.	.;.	2.545077	0.32927	19.19	0.9516853292169033	0.26322	0.45422	0.27535	N	AEFDBCI	0.072467	0.14463	N	-0.234951516120711	0.31708	1.780694	-0.151264189810039	0.33359	1.907443	0.09639450867093	0.16251	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	1.2	0.20181	1.392000	0.34095	-0.274000	0.10324	-0.176000	0.10722	1.000000	0.71638	0.000000	0.08366	0.976000	0.56436	0.0:0.3294:0.0:0.6706	6.492	0.21317	912	0.21483	Myb-like domain|SANT/Myb domain;Myb-like domain|SANT/Myb domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2561.98	37	chr9	136388503	.	C	T	2561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.164;DP=973;ExcessHet=0.0000;FS=8.377;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.764;SOR=0.953	GT:AD:DP:GQ:PL	0/1:116,110:226:99:2576,0,2672	20	0	1	0
chr9	136676978	136676978	G	A	exonic	AGPAT2	.	nonsynonymous SNV	AGPAT2:NM_001012727:exon3:c.C475T:p.R159C	Lipodystrophy, congenital generalized, type 1, Autosomal recessive	.	0	1476	45	1	0	47	0.0156719	.	.	207659	Monogenic_diabetes|not_specified|not_provided|AGPAT2-related_disorder|Congenital_generalized_lipodystrophy_type_1	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594,Orphanet:528	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.995	D	0.86	P	0.293	N	0.982	D	2.655	M	-3.25	D	0.563	D	0.794	D	0.298	2.921	15.73	2.66	0.978	2.180	6.900	0.583	0.376081266076	0.0042	0.00299521	0.0055	0.0006	0.0045	0	0.0023	0.0069	0.0090	0.0079	0.0052522	812	154602	rs142993240	0.0052	0.0051	0.0051	0.0054	0.0200	0.0051	0.0051	0.0170	0.0158	0.0009	0.0053	0.0113	0	0.0021	0.0200	0.0052	0.0062	0.0075	0.0045	0.0045	0.0045	0.0045	0.0081	0.0042	0.0041	0.0061	0.0055	0.0014	0	0.0057	0.0102	0	0.0014	0.0274	0.0062	0.0081	0.0081	0.04	0.42199	D	0.133	0.34359	T	0.994	0.67487	D	0.827	0.61233	P	0.293250	0.14730	N	0.654070	0.98209	0.39852	D	1.885	0.50048	L	-3.25	0.93532	D	-1.31	0.39119	N	0.334	0.42345	0.563	0.91414	D	0.794	0.93025	D	10	0.013234198	0.00281	T	0.376081	0.92861	D	0.583	0.83249	.	.	0.98728440208	0.98714	0.550509138554867	0.54976	0.675783368987	0.59728	0.304822176695	0.11124	T	0.634862	0.88730	D	-0.242284	0.15060	T	-0.116936	0.62053	T	0.0146335427042857	0.00302	T	0.835916	0.50694	T	0.27577108	0.50640	0.1912488	0.42572	0.36025938	0.57856	0.18649092	0.41824	-4.821	0.75123	T	.	.	0.199	0.45653	B	.;.;.	.;.;.	4.247194	0.64440	24.7	0.99853759363083971	0.93279	0.84552	0.43635	D	AEFDGBHCI	0.891524	0.82756	D	0.394959614047973	0.61147	4.312139	0.283211928081487	0.54560	3.62051	0.999983192290523	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.570548	0.19454	0	0.741806	0.99463	0	.	.	4.75	2.66	0.30672	2.855000	0.48032	2.028000	0.30240	0.676000	0.76740	1.000000	0.71638	0.638000	0.25900	0.318000	0.24924	0.0:0.1308:0.3813:0.488	6.900	0.23456	952	0.10565	Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase;Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase|1-acyl-sn-glycerol-3-phosphate acyltransferase;Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase|1-acyl-sn-glycerol-3-phosphate acyltransferase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1170.98	42	chr9	136676978	.	G	A	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.590e-01;DP=797;ExcessHet=0.0000;FS=1.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=0.698;SOR=0.442	GT:AD:DP:GQ:PL	0/1:31,51:82:99:1185,0,640	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:37,0,21:58:99:.:.:722,833,2346,0,1512,1448	7	0	2	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:82,45:127:99:356,0,1125	5	0	16	0
chr10	5796837	5796837	C	T	exonic	GDI2	.	nonsynonymous SNV	GDI2:NM_001115156:exon3:c.G179A:p.G60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.004	B	0.000	N	1.000	D	0.48	N	0.32	T	-0.983	T	0.106	T	0.948	1.397	10.60	4.74	2.324	2.514	17.696	0.337	0.016036804426	.	.	2.474e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs748784089	2.454e-05	2.737e-05	1.12e-05	3.792e-05	0.0004	1.782e-05	1.577e-05	0.0003	0.0002	3.052e-05	0	0	0	0	0.0002	0	0	0.0004	1.315e-05	1.314e-05	0	2.692e-05	0.0002	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0	0.0002	1.0	0.04482	T	0.632	0.12776	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.050031	1	0.81001	D	-0.09	0.04745	N	0.12	0.61089	T	0.12	0.06488	N	0.522	0.55193	-0.9825	0.34422	T	0.106	0.38734	T	10	0.13167685	0.25062	T	0.016037	0.37096	T	0.337	0.65913	0.379	0.39482	0.89282191451	0.89176	0.7783433847654847	0.77784	0.441325918188	0.44124	0.647070527077	0.59570	T	0.297301	0.66991	T	0.0120087	0.53300	T	0.0899918	0.76246	D	0.0596841925199037	0.07118	T	0.769523	0.40326	T	0.19869839	0.41782	0.21666454	0.46302	0.19869839	0.41782	0.21666454	0.46301	-3.33	0.14126	T	.	.	0.180	0.41888	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.276804	0.44877	22.0	0.87556625280602163	0.17313	0.96887	0.71481	D	AEFBI	0.631533	0.61248	D	-0.349301448540702	0.27297	1.496575	-0.13048393435371	0.34167	1.962422	0.999981969997923	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.74	4.74	0.59717	2.673000	0.46524	4.825000	0.45150	0.599000	0.40250	0.983000	0.35670	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.696	0.88188	439	0.80177	.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	534.98	34	chr10	5796837	.	C	T	534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.684;DP=722;ExcessHet=0.0000;FS=1.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=-1.040e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:16,22:38:99:549,0,347	20	0	1	0
chr10	15779012	15779012	G	A	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon14:c.C799T:p.R267C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.994	D	0.556	P	0.000	D	1.000	D	1.59	L	1.38	T	-1.042	T	0.111	T	0.803	4.018	20.6	5.48	2.559	6.337	14.216	0.157	0.0227730678116	7.7e-05	0.000199681	5.095e-05	0.0002	0	0.0002	0.0002	1.549e-05	0	0	4.53e-05	7	154602	rs377568966	1.027e-05	1.026e-05	1.498e-05	5.504e-06	0.0001	6.17e-06	4.89e-06	4.087e-05	2.376e-05	0.0001	0	0	0	9.369e-05	0	5.398e-06	0	0	6.568e-05	6.563e-05	7.711e-05	5.373e-05	0.0002	3.515e-05	2.615e-05	0.0001	8.436e-05	0.0002	0	0	0	0	0	0	1.47e-05	0	0	0.163	0.35165	T	0.168	0.30631	T	0.994	0.66517	D	0.556	0.49411	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.38	0.34050	T	-2.98	0.62008	D	0.42	0.49055	-1.0418	0.16770	T	0.111	0.39864	T	10	0.14334807	0.27217	T	0.022773	0.45688	T	0.157	0.40909	.	.	0.171220215726	0.16700	0.5743581190011825	0.57364	0.517718159117	0.49631	0.801096618176	0.82129	T	0.236213	0.60364	T	-0.118687	0.33338	T	-0.102285	0.63221	T	0.402363270521164	0.29031	T	0.972103	0.89869	D	0.19755289	0.41624	0.13937093	0.33255	0.19755289	0.41623	0.13937093	0.33254	-5.548	0.42315	T	.	.	0.131	0.40213	B	.;.	.;.	5.045794	0.84013	28.2	0.99903869418003677	0.97502	0.97369	0.74314	D	AEFBI	0.811237	0.73428	D	0.582689498683821	0.72094	5.752015	0.627147527660085	0.76920	6.58047	0.999985492070844	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	6.447000	0.73384	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.8507:0.1493	14.216	0.65339	895	0.25842	.;.	.	.	.	.	.	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	0.02381	1234.98	37	chr10	15779012	.	G	A	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.504;DP=844;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.64;SOR=0.853	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1249,0,1076	20	0	1	0
chr10	21517035	21517035	C	G	exonic	SKIDA1	.	nonsynonymous SNV	SKIDA1:NM_207371:exon4:c.G788C:p.G263A,	.	.	332	1184	6	0	0	6	0.00252738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.0	B	.	.	0.999	N	0	N	.	.	-1.032	T	0.039	T	0.023	0.435	6.360	0.814	0.115	2.510	3.195	0.049	0.174358297289	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868679098	4.054e-05	4.515e-05	4.475e-05	3.583e-05	0.0005	2.967e-05	2.633e-05	4.049e-05	2.093e-05	0	0	0.0003	0	0	0.0005	3.505e-05	6.657e-05	0.0001	3.467e-05	3.336e-05	2.699e-05	4.279e-05	0.0002	1.314e-05	8.37e-06	2.03e-05	1.163e-05	0	0	0	0	0	0	0	6.128e-05	0	0.0002	0.065	0.36310	T	0.432	0.13634	T	.	.	.	.	.	.	.	.	.	.	1	0.21681	N	.	.	.	.	.	.	-0.25	0.11008	N	0.066	0.03841	-1.0318	0.19873	T	0.039	0.16806	T	8	0.080872715	0.13176	T	0.174358	0.85077	D	0.049	0.13647	0.171	0.07655	0.0138822411134	0.00435	0.14681314989470803	0.14603	.	.	0.880079030991	0.93971	D	.	.	.	-0.300582	0.08605	T	-0.669542	0.07637	T	0.0819016620516777	0.10230	T	0.337566	0.07230	T	0.047520835	0.08134	0.13939089	0.33259	0.047520835	0.08134	0.13939089	0.33258	-3.063	0.10876	T	.	.	0.104	0.19032	B	.	.	1.569798	0.20101	14.59	0.831083983631421	0.14547	0.28640	0.23609	N	AEFDBHCIJ	0.061327	0.11717	N	-0.786541236810526	0.13660	0.6745411	-0.732566506204219	0.16151	0.8530712	0.999999869908345	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.289072	0.05449	1	0.603991	0.37454	0	.	.	1.83	0.814	0.17897	0.791000	0.26577	0.348000	0.17448	0.185000	0.17820	0.184000	0.24113	0.073000	0.22253	0.260000	0.23518	0.0:0.5303:0.2862:0.1834	3.195	0.06234	932	0.16191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	367.98	18	chr10	21517035	.	C	G	367.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.920e-01;DP=498;ExcessHet=0.0000;FS=10.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=0.420;SOR=1.265	GT:AD:DP:GQ:PL	0/1:8,15:23:99:382,0,195	20	0	1	0
chr10	23439492	23439492	C	T	exonic	OTUD1	.	nonsynonymous SNV	OTUD1:NM_001145373:exon1:c.C35T:p.P12L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.908	P	0.002	U	1.000	D	0.55	N	.	.	-0.796	T	0.169	T	0.261	3.657	18.59	2.25	1.245	3.116	10.583	0.107	0.796008780224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-07	5.472e-06	0	1.672e-06	.	0	0	.	.	0	0	0	0	3.428e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	0.994	0.66517	D	0.908	0.64494	P	0.001787	0.37998	U	0.000000	0.999929	0.51308	D	0.805	0.20218	L	.	.	.	-2.31	0.51319	N	0.493	0.52651	-0.7962	0.55368	T	0.169	0.50971	T	9	0.6328446	0.68615	D	0.796009	0.98401	D	0.107	0.30369	0.482	0.56302	0.35139820857	0.34749	0.45202923491465113	0.45120	.	.	0.823471903801	0.85561	D	0.038693	0.24931	T	-0.0683886	0.41585	T	-0.336012	0.40795	T	0.86104844861308	0.51147	D	0.562644	0.19782	T	0.20900461	0.43155	0.19611663	0.43325	0.20900461	0.43154	0.19611663	0.43324	-3.78	0.20506	T	.	.	0.716	0.73616	P	.	.	4.229368	0.64035	24.7	0.9979113353355189	0.87661	0.98678	0.85476	D	AEFDBHCIJ	0.115002	0.22630	N	0.12225847570012	0.47503	2.975091	0.0337151552867111	0.41293	2.478291	0.999999999687644	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.621717	0.48901	0	.	.	2.25	2.25	0.27340	4.006000	0.56798	6.843000	0.56720	0.406000	0.20596	0.977000	0.34929	1.000000	0.68203	0.815000	0.38403	0.0:1.0:0.0:0.0	10.583	0.44457	921	0.19240	.	.	.	.	.	.	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	0.02381	169.27	18	chr10	23439492	.	C	T	169.27	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.575e+00;DP=313;ExcessHet=0.0000;FS=6.264;InbreedingCoeff=-0.0365;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=1.49;SOR=0.061	GT:AD:DP:GQ:PL	0/1:4,7:11:99:183,0,129	20	0	1	0
chr10	30611996	30611996	-	C	exonic	LYZL2	.	frameshift insertion	LYZL2:NM_183058:exon5:c.405dupG:p.R136Efs*11,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.295e-05	0	0	0	0	2.997e-05	0	0.0001	2.59e-05	4	154602	rs775323987	8.209e-06	8.209e-06	1.361e-06	1.513e-05	0.0002	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0.0002	3.597e-06	1.656e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5345.05	34	chr10	30611996	.	T	TC	5345.05	.	AC=2;AF=0.048;AN=42;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.39;SOR=0.978	GT:AD:DP:GQ:PL	1/1:0,165:165:99:5373,496,0	20	1	0	0
chr10	37147439	37147442	ATAA	-	exonic	ANKRD30A	.	frameshift deletion	ANKRD30A:NM_052997:exon9:c.1357_1360del:p.N454Efs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.711e-05	0	0	0	0	3.113e-05	0	0	1.29e-05	2	154602	rs776918235	1.397e-05	1.505e-05	9.734e-06	1.825e-05	6.262e-05	9.12e-06	7.42e-06	2.39e-05	1.5e-05	6.262e-05	2.609e-05	0	2.544e-05	0	0	7.286e-06	5.079e-05	6.127e-05	3.289e-05	3.285e-05	3.857e-05	2.694e-05	5.886e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	2.416e-05	0	0	0	0	0	0	5.886e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4157.05	35	chr10	37147438	.	GATAA	G	4157.05	.	AC=2;AF=0.048;AN=42;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.97;QD=35.11;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,93:93:99:4185,280,0	20	1	0	0
chr10	49933321	49933321	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G803A:p.R268H	.	.	432	941	149	0	0	149	0.0733629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243634145	3.406e-05	0.0007	3.32e-05	3.492e-05	0.0003	2.607e-05	2.349e-05	0.0002	0.0001	0.0003	0.0001	0	7.62e-05	3.887e-05	0	2.099e-05	1.678e-05	3.522e-05	0.0006	0.0061	0.0005	0.0007	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0006	0	0	0.0003	0	0.0001	0.0010	0.0002	.	.	.	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02462	.	.	.	.	.	.	.	0.073026	0.10979	T	.	.	.	.	.	.	.	.	.	0.1798985972631501	0.17908	.	.	.	.	.	0.052451	0.29163	T	.	.	.	.	.	.	.	.	.	0.510149	0.16261	T	.	.	.	.	.	.	.	.	-4.524	0.31201	T	.	.	0.065	0.02038	B	.;.	.;.	0.608126	0.09765	6.533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518000	0.22554	-2.025000	0.04327	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	.	.	.	861	0.33516	.;.	.	.	.	.	.	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	0.025	86.33	35	chr10	49933321	.	C	T	86.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=5.47;DP=1510;ExcessHet=0.0000;FS=50.487;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=52.83;MQRankSum=-7.890e+00;QD=0.44;ReadPosRankSum=-7.380e-01;SOR=7.480	GT:AD:DP:GQ:PL	0/1:174,21:195:99:100,0,4560	19	0	1	1
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.907	P	0.000	D	1.000	D	1.735	L	.	.	-0.695	T	0.262	T	0.334	2.165	13.20	3.2	1.510	3.070	10.264	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	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	675.31	121	chr10	50104143	.	G	A,C,T	675.31	.	AC=2,2,1;AF=0.111,0.111,0.056;AN=18;BaseQRankSum=-2.477e+00;DP=1231;ExcessHet=1.3000;FS=169.836;InbreedingCoeff=-0.3611;MLEAC=3,3,2;MLEAF=0.167,0.167,0.111;MQ=56.88;MQRankSum=0.493;QD=1.49;ReadPosRankSum=1.92;SOR=9.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:85,0,0,19:104:99:0|1:50104141_G_C:111,365,3190,365,3190,3190,0,2825,2825,2769:50104141	4	0	2	12
chr10	50104143	50104143	G	T	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737T:p.E579D	.	.	.	.	.	.	.	.	.	1.0000	0.992	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.907	P	0.000	D	1.000	D	1.735	L	.	.	-0.695	T	0.262	T	0.334	2.225	13.40	3.2	1.510	3.070	10.264	0.052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.707e-07	6.36e-06	0	1.541e-06	1.03e-06	0	0	.	.	0	0	0	0	0	0	1.03e-06	0	0	0	1.327e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	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	0.101569474	0.18565	T	0.007221	0.19143	T	0.052	0.14661	0.155	0.05858	0.043077524339	0.03247	0.022149028868026752	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.0239667	0.48286	T	-0.272203	0.47596	T	0.882602095603943	0.53273	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	.;.;.;.;.	.;.;.;.;.	5.651825	0.92816	33	0.99780184817050044	0.86693	0.87410	0.46941	D	AEFI	0.330757	0.43070	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	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	675.31	121	chr10	50104143	.	G	A,C,T	675.31	.	AC=2,2,1;AF=0.111,0.111,0.056;AN=18;BaseQRankSum=-2.477e+00;DP=1231;ExcessHet=1.3000;FS=169.836;InbreedingCoeff=-0.3611;MLEAC=3,3,2;MLEAF=0.167,0.167,0.111;MQ=56.88;MQRankSum=0.493;QD=1.49;ReadPosRankSum=1.92;SOR=9.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:85,0,0,19:104:99:0|1:50104141_G_C:111,365,3190,365,3190,3190,0,2825,2825,2769:50104141	4	0	2	12
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.001	9.087	3.2	1.510	4.613	10.264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.87	78	chr10	50104144	.	G	C,A	379.87	.	AC=2,2;AF=0.071,0.071;AN=28;BaseQRankSum=-2.776e+00;DP=1181;ExcessHet=0.7564;FS=263.402;InbreedingCoeff=-0.2209;MLEAC=3,2;MLEAF=0.107,0.071;MQ=56.92;MQRankSum=0.493;QD=1.07;ReadPosRankSum=0.796;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,19,0:102:99:0|1:50104141_G_C:117,0,2725,365,2781,3147:50104141	10	0	2	7
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.121	9.572	3.2	1.510	4.613	10.264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.87	78	chr10	50104144	.	G	C,A	379.87	.	AC=2,2;AF=0.071,0.071;AN=28;BaseQRankSum=-2.776e+00;DP=1181;ExcessHet=0.7564;FS=263.402;InbreedingCoeff=-0.2209;MLEAC=3,2;MLEAF=0.107,0.071;MQ=56.92;MQRankSum=0.493;QD=1.07;ReadPosRankSum=0.796;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,19,0:102:99:0|1:50104141_G_C:117,0,2725,365,2781,3147:50104141	10	0	2	7
chr10	59302818	59302818	G	A	exonic	FAM13C	.	nonsynonymous SNV	FAM13C:NM_001001971:exon5:c.C490T:p.R164W	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.979	D	0.431	B	0.661	N	0.996	N	1.1	L	0.88	T	-0.726	T	0.319	T	0.326	2.585	14.60	4.16	2.775	1.716	10.901	0.135	0.0378447709814	.	.	2.472e-05	9.612e-05	0	0	0	2.998e-05	0	0	2.59e-05	4	154602	rs773601984	2.189e-05	2.189e-05	2.042e-05	2.338e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	3.758e-05	0.0001	2.236e-05	0	0	0	0.0003	1.799e-05	3.312e-05	2.319e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-05	7.241e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	0	0	0	0.046	0.46513	D	0.021	0.59159	D	0.927	0.59044	P	0.176	0.45421	B	0.660845	0.10428	N	0.821364	0.996042	0.23130	N	1.1	0.28011	L	-1.13	0.77719	T	-2.3	0.51157	N	0.222	0.26596	-0.7263	0.59150	T	0.319	0.68848	T	10	0.17117465	0.31822	T	0.037845	0.57866	D	0.135	0.36572	0.257	0.19845	0.913672819377	0.91280	0.09344692104870393	0.09276	.	.	0.22662357986	0.01728	T	0.012854	0.11224	T	-0.158369	0.27012	T	-0.283735	0.46421	T	0.212697640061378	0.21094	T	0.887511	0.61533	D	0.10320184	0.24391	0.14658959	0.34723	0.10320184	0.24390	0.14658959	0.34722	-5.451	0.43120	T	.	.	0.079	0.22500	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.536728	0.49653	22.8	0.99527408753339996	0.69653	0.41439	0.26657	N	AEFBI	0.258550	0.37707	N	0.14234741808976	0.48450	3.057134	0.174941821480277	0.48477	3.063186	0.164789928112606	0.17647	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.14	4.16	0.48138	1.799000	0.38459	3.834000	0.40009	0.676000	0.76740	0.422000	0.26346	0.999000	0.35428	0.987000	0.62547	0.0:0.1899:0.8101:0.0	10.901	0.46263	982	0.03397	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.04762	2548.08	33	chr10	59302818	.	G	A	2548.08	.	AC=2;AF=0.048;AN=42;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.07;SOR=1.151	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2576,246,0	20	1	0	0
chr10	70266197	70266197	C	T	exonic	NPFFR1	.	nonsynonymous SNV	NPFFR1:NM_022146:exon2:c.G202A:p.V68M,	.	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.82	M	1.04	T	-0.430	T	0.280	T	0.725	3.815	19.37	4.14	2.347	6.016	11.625	0.389	0.0807241906761	0.0012	0.000599042	0.0011	0.0006	0.0004	0	0.0006	0.0016	0.0033	0.0002	0.001119	173	154602	rs188869837	0.0012	0.0012	0.0012	0.0012	0.0021	0.0011	0.0011	0.0013	0.0013	0.0005	0.0004	0	0	0.0010	0.0021	0.0014	0.0010	0.0003	0.0010	0.0010	0.0010	0.0011	0.0017	0.0009	0.0009	0.0014	0.0013	0.0006	0	0.0007	0.0003	0	0.0004	0	0.0017	0.0014	0.0004	0.001	0.78490	D	0.025	0.56192	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.14	0.88230	M	1.04	0.40218	T	-2.41	0.52938	N	0.91	0.91162	-0.4296	0.71080	T	0.280	0.65219	T	10	0.18727466	0.34230	T	0.080724	0.73523	D	0.389	0.70521	.	.	0.83208621434	0.83049	0.8489907470491497	0.84861	0.461430799888	0.45681	0.621265947819	0.55908	T	0.122149	0.44561	T	-0.210915	0.19250	T	-0.0720156	0.65482	T	0.065868700493085	0.08059	T	0.941306	0.78096	D	0.7732971	0.82246	0.84563595	0.91212	0.7732971	0.82247	0.84563595	0.91213	-14.912	0.95643	D	.	.	0.788	0.76728	P	.	.	4.753300	0.76773	26.6	0.99903892994125387	0.97502	0.94310	0.60759	D	AEFDBI	0.614864	0.60202	D	0.701973314518242	0.79761	7.146589	0.621073992719451	0.76473	6.497372	0.999999998246149	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.05	4.14	0.47821	6.137000	0.71462	3.156000	0.36547	0.549000	0.26987	1.000000	0.71638	0.997000	0.33255	0.998000	0.85391	0.0:0.9122:0.0:0.0878	11.625	0.50398	434	0.80536	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5323.08	33	chr10	70266197	.	C	T	5323.08	.	AC=2;AF=0.048;AN=42;DP=882;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.90;SOR=0.811	GT:AD:DP:GQ:PL	1/1:0,178:178:99:5351,534,0	20	1	0	0
chr10	73521009	73521009	T	G	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon16:c.A2210C:p.E737A	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.996	D	0.000	U	1.000	D	1.995	M	1.12	T	-0.638	T	0.245	T	0.917	4.029	20.7	5.57	2.248	7.174	16.035	0.263	0.0307538505052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.152	0.32249	T	1.0	0.90584	D	0.996	0.84481	D	0.000007	0.62929	U	0.000000	1.000	0.81001	D	2.395	0.69210	M	1.12	0.38718	T	-2.11	0.48020	N	0.895	0.89465	-0.6379	0.63235	T	0.245	0.61366	T	10	0.81323636	0.80587	D	0.030754	0.52999	D	0.263	0.57612	0.235	0.16457	0.532311620844	0.52880	0.17990279742866142	0.17909	0.691864568728	0.60625	0.622691035271	0.56109	T	0.249481	0.61945	T	0.283438	0.81608	D	0.169362	0.81372	D	0.976254940032959	0.71296	D	0.906609	0.67067	D	0.24513741	0.47469	0.2571397	0.51425	0.24513741	0.47469	0.2571397	0.51425	-11.315	0.81357	D	.	.	0.268	0.50269	B	.	.	4.441989	0.68969	25.3	0.9967763976983347	0.79043	0.98264	0.81063	D	AEFDBI	0.837994	0.75556	D	0.764274745896374	0.83832	8.121662	0.75414434197309	0.86466	8.898299	0.999999677159184	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	7.166000	0.77118	6.261000	0.55345	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.035	0.80419	653	0.62661	.	.	.	.	.	.	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	0.02381	1263.98	36	chr10	73521009	.	T	G	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.160e-01;DP=808;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=-1.590e-01;SOR=0.888	GT:AD:DP:GQ:PL	0/1:53,54:107:99:1278,0,1346	20	0	1	0
chr10	73808354	73808354	C	T	exonic	NDST2	.	nonsynonymous SNV	NDST2:NM_001330107:exon3:c.G35A:p.R12Q	.	.	357	1163	2	0	0	2	0.000859107	.	.	2435815	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.953	D	0.000	D	1.000	D	0.895	L	1.22	T	-0.861	T	0.157	T	0.767	5.768	36	5.38	2.518	7.364	19.125	0.313	0.039805722517	.	.	7.738e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs749299924	3.535e-05	3.967e-05	1.789e-05	5.308e-05	0.0004	2.732e-05	2.47e-05	0.0003	0.0002	0	0	0	0.0001	0	0	0	0.0003	0.0004	4.611e-05	4.598e-05	1.288e-05	8.088e-05	0.0008	2.114e-05	1.53e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0.0006	0.028	0.46129	D	0.063	0.45110	T	0.997	0.70673	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	1.22	0.37052	T	-1.28	0.32185	N	0.812	0.80767	-0.8612	0.51177	T	0.157	0.48976	T	10	0.18670097	0.34146	T	0.039806	0.59020	D	0.313	0.63482	0.439	0.49321	0.783810348395	0.78181	0.6036125058950356	0.60292	1.45274477073	0.86197	0.528598546982	0.42836	T	0.349726	0.71754	T	-0.129188	0.31627	T	-0.0891956	0.64222	T	0.261562339211643	0.23383	T	0.957954	0.84201	D	0.32304725	0.54896	0.21535511	0.46121	0.32304725	0.54896	0.21535511	0.46120	-5.498	0.41849	T	.	.	0.12	0.40376	B	.;.;.	.;.;.	5.683538	0.93012	33	0.99951104980697603	0.99944	0.98285	0.81260	D	AEFBCI	.	.	.	0.663411499111875	0.77239	6.63668	0.695147028558361	0.82007	7.662358	0.999999999999779	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.38	5.38	0.77279	7.473000	0.80010	7.723000	0.67399	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.125	0.93365	506	0.75555	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1365.98	39	chr10	73808354	.	C	T	1365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=867;ExcessHet=0.0000;FS=2.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=1.65;SOR=1.011	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1380,0,1581	20	0	1	0
chr10	79311101	79311101	G	A	exonic	ZMIZ1	.	nonsynonymous SNV	ZMIZ1:NM_020338:exon24:c.G3013A:p.D1005N,	.	.	.	.	.	.	.	.	.	.	.	2108857	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.991	D	0.727	P	0.001	D	1.000	D	2.085	M	1.14	T	-0.745	T	0.171	T	0.086	5.362	34	4.72	2.327	9.420	18.052	0.223	0.0747155985525	0.0003	0.000399361	0.0003	0	0.0002	0.0016	0	0.0002	0	6.056e-05	0.0002846	44	154602	rs149174704	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0014	0.0013	2.987e-05	0.0001	0.0038	0.0017	0	0.0002	3.957e-05	0.0004	3.478e-05	0.0001	0.0001	0.0002	0.0001	0.0017	9.142e-05	7.699e-05	0.0009	0.0007	2.406e-05	0	6.533e-05	0.0023	0.0017	0	0	2.94e-05	0	0	0.001	0.78490	D	0.078	0.44702	T	0.991	0.64070	D	0.727	0.55167	P	0.000523	0.43581	D	0.000000	1	0.81001	D	2.565	0.75005	M	1.14	0.38397	T	-2.78	0.58896	D	0.678	0.69562	-0.7453	0.58180	T	0.171	0.51245	T	10	0.026286542	0.00799	T	0.074716	0.72109	D	0.223	0.52023	.	.	0.541333355837	0.53785	0.44627086308278435	0.44545	0.84500378867	0.68250	0.868607163429	0.92368	D	0.330776	0.70092	T	-0.462088	0.00954	T	-0.443797	0.28383	T	0.193814598024431	0.20066	T	0.893211	0.63166	D	0.420197	0.62104	0.33221784	0.59072	0.420197	0.62105	0.33221784	0.59071	-7.249	0.55832	T	0.40797957359402304	0.49875	0.359	0.57180	A	.;.	.;.	6.046847	0.94430	34	0.99909697921197083	0.97949	0.95922	0.66735	D	AEFDGBHCI	0.907265	0.86107	D	0.717367959506714	0.80769	7.368635	0.704255969841753	0.82703	7.832909	1.0	0.98316	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.72	4.72	0.59248	9.602000	0.97623	11.770000	0.95838	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.052	0.89278	920	0.19381	.;.	.	.	.	.	.	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	0.02381	1162.98	34	chr10	79311101	.	G	A	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.736;DP=800;ExcessHet=0.0000;FS=4.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=1.60;SOR=0.931	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1177,0,690	20	0	1	0
chr10	80420537	80420537	G	A	exonic	PRXL2A	.	nonsynonymous SNV	PRXL2A:NM_001243778:exon2:c.G70A:p.A24T	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.964	D	0.634	P	0.000	D	0.996	D	2.39	M	.	.	-0.274	T	0.349	T	0.448	4.453	23.7	5.63	2.654	9.375	17.168	0.189	0.00861644887506	.	.	4.948e-05	0	0	0	0	1.5e-05	0	0.0003	3.88e-05	6	154602	rs756747737	7.595e-05	7.593e-05	6.263e-05	8.94e-05	0.0006	6.425e-05	6.005e-05	0.0005	0.0004	0	0	0	0	0	0.0003	4.947e-05	4.967e-05	0.0006	1.97e-05	1.969e-05	0	4.029e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.004	0.65419	D	0.011	0.64786	D	0.964	0.55854	D	0.634	0.51870	P	0.000002	0.62929	D	0.098411	0.99563	0.42782	D	.	.	.	.	.	.	-1.41	0.34795	N	0.46	0.49692	-0.2735	0.75717	T	0.349	0.71297	T	9	0.24491	0.41729	T	0.008616	0.22779	T	0.189	0.46613	0.419	0.46036	0.562540394707	0.55916	0.7828000908778107	0.78231	0.631368366302	0.57095	0.38729557395	0.23287	T	0.067886	0.33316	T	-0.179721	0.23777	T	-0.146502	0.59553	T	0.230335799973855	0.21967	T	0.834417	0.50357	T	0.22808868	0.45521	0.29694083	0.55727	0.22808868	0.45521	0.29694083	0.55727	-3.758	0.33002	T	.	.	0.136	0.41464	B	.;.;.;.;.;.	.;.;.;.;.;.	4.762572	0.77010	26.6	0.99881568655988784	0.95733	0.99506	0.96851	D	AEFDBI	0.912905	0.87417	D	0.817535025588856	0.87189	9.133058	0.831805795000036	0.91908	11.13313	0.999998507827775	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	7.670000	0.82907	9.960000	0.82789	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.168	0.86702	941	0.13089	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1080.98	36	chr10	80420537	.	G	A	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.466e+00;DP=798;ExcessHet=0.0000;FS=1.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-1.833e+00;SOR=0.534	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1095,0,1569	20	0	1	0
chr10	84184760	84184760	G	T	exonic	C10orf99	.	nonsynonymous SNV	C10orf99:NM_207373:exon3:c.G240T:p.Q80H,	.	.	423	1087	11	1	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.007	U	0.974	N	.	.	.	.	-0.984	T	0.108	T	0.547	1.858	12.17	0.979	0.221	0.056	5.816	0.141	.	0.0003	0.00399361	0.0040	0.0003	0.0132	0.0269	0.0002	0.0002	0	0.0048	0.0034993	541	154602	rs76221724	0.0016	0.0016	0.0015	0.0016	0.0277	0.0015	0.0015	0.0263	0.0258	0.0001	0.0094	0	0.0277	1.874e-05	0.0005	0.0002	0.0016	0.0047	0.0013	0.0013	0.0012	0.0014	0.0213	0.0012	0.0011	0.0181	0.0169	0.0003	0	0.0022	0	0.0213	0	0.0068	0.0002	0.0038	0.0046	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.006574	0.31942	U	0.000000	0.974334	0.25497	N	.	.	.	.	.	.	-4.0	0.74051	D	0.344	0.38541	-0.9836	0.34164	T	0.108	0.39270	T	8	0.0064013004	0.00145	T	.	.	.	0.141	0.37795	0.163	0.06730	0.144782658237	0.14088	0.14085334914174644	0.14008	0.0265774283151	0.02714	.	.	.	.	.	.	-0.341494	0.05285	T	-0.245056	0.50303	T	0.0888090099234062	0.11075	T	0.50325	0.15827	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.866	0.80659	P	.	.	1.803765	0.22927	15.82	0.99019210874948427	0.50548	0.70692	0.34696	D	AEFDBI	0.085898	0.17415	N	0.185296498331203	0.50492	3.238771	0.0723337538637086	0.43162	2.624	0.0043863099384363	0.10527	0.580535	0.33130	0	0.626922	0.53725	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.83	0.979	0.18864	0.060000	0.14220	1.113000	0.24175	-0.192000	0.09343	0.983000	0.35670	1.000000	0.68203	0.772000	0.36596	0.3425:0.0:0.6575:0.0	5.816	0.17752	933	0.16026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1021.98	34	chr10	84184760	.	G	T	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.210;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.156;SOR=0.780	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1036,0,985	20	0	1	0
chr10	87226149	87226149	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon1:c.C319T:p.H107Y,	.	.	1487	32	0	3	0	6	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.659	P	0.403	B	.	.	1.000	N	0.55	N	2.81	T	-1.047	T	0.026	T	0.033	-2.130	0.005	0.354	0.154	1.131	3.743	0.087	.	.	0.0129792	0.0047	0	0.0065	.	0	0.0072	0	0.1111	0.0012678	196	154602	rs78856879	0.0208	0.0029	0.0194	0.0224	0.2256	0.0198	0.0194	0.1928	0.1804	0.0007	0.0846	0	0	0	0	0.0232	0.0164	0.2256	0.0002	0.0074	0	0.0005	0.0012	5.721e-05	3.055e-05	0.0002	7.046e-05	0	0	0.0012	0	0	0	0	0.0010	0	0	0.618	0.05341	T	0.098	0.46862	T	0.659	0.40886	P	0.403	0.44588	B	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.21473	T	-0.21	0.10308	N	0.195	0.21449	-1.0471	0.15217	T	0.026	0.11309	T	9	0.0029922426	0.00049	T	.	.	.	0.087	0.25287	.	.	.	.	0.012261439894405911	0.01185	.	.	0.606433749199	0.53813	T	0.001635	0.01065	T	-0.341822	0.05262	T	-0.72878	0.04383	T	0.0845391506841971	0.10558	T	0.476552	0.14308	T	0.03928617	0.05395	0.06041585	0.11501	0.03928617	0.05394	0.06041585	0.11500	-4.642	0.32695	T	.	.	0.078	0.12797	B	.;.	.;.	1.149009	0.15371	11.80	0.52149812966942932	0.04694	0.02677	0.07305	N	AEFI	0.029649	0.02839	N	-1.04507266648348	0.07685	0.3578228	-1.15891487746776	0.06610	0.3187014	5.31718313235543E-5	0.04171	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.32	0.354	0.15300	0.244000	0.17899	-3.032000	0.03123	-0.555000	0.04881	0.897000	0.31356	0.000000	0.08366	0.005000	0.06747	0.0:0.7433:0.0:0.2567	3.743	0.08063	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1.0	57.13	2	chr10	87226149	.	C	T	57.13	.	AC=2;AF=1.00;AN=2;DP=2;ExcessHet=0.0000;FS=0.000;MLEAC=6;MLEAF=1.00;MQ=25.00;QD=28.56;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	1	0	20
chr10	87228937	87228937	A	G	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon2:c.A1057G:p.T353A,	.	.	548	971	2	1	0	4	0.0020555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.515	P	0.56	P	0.893	N	1.000	N	0.755	N	1.87	T	-0.953	T	0.055	T	0.239	-1.353	0.028	0.321	0.150	0.332	3.684	0.014	0.00149504019613	.	.	0.0005	0	0.0002	0.0056	0	0.0001	0	0	3.84e-05	1	26028	rs753694230	0.0006	0.0004	0.0005	0.0006	0.0112	0.0005	0.0005	0.0103	0.0100	0	4.787e-05	0.0003	0.0112	0.0002	0.0016	9.414e-05	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0017	0.0013	0	0	6.713e-05	0.0009	0.0027	0	0	0.0002	0	0.0004	0.61	0.06164	T	1.0	0.08134	T	0.515	0.37421	P	0.56	0.49558	P	0.893170	0.07308	N	1.054750	1	0.08975	N	.	.	.	1.87	0.24085	T	-0.42	0.17417	N	0.053	0.04790	-0.9527	0.40503	T	0.055	0.23224	T	10	0.0064060986	0.00145	T	0.001495	0.02292	T	0.061	0.17616	0.18	0.08751	0.043077524339	0.03247	0.029714614865616874	0.02920	.	.	0.766561985016	0.76909	T	0.003705	0.03111	T	-0.571145	0.00218	T	-0.598114	0.12970	T	0.0363992448187746	0.03051	T	0.70163	0.31127	T	0.04586813	0.07581	0.038449503	0.03716	0.04586813	0.07581	0.038449503	0.03716	-6.238	0.49525	T	.	.	0.106	0.19800	B	.;.	.;.	0.247778	0.06271	2.729	0.68925011577018214	0.08810	0.00046	0.00367	N	AEFI	0.010127	0.00068	N	-0.87429058872569	0.11456	0.5529742	-0.991174396481521	0.09983	0.4999514	1.11575360566664E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	0.321	0.15127	0.167000	0.16419	-1.276000	0.05839	0.423000	0.20817	0.296000	0.25288	0.000000	0.08366	0.045000	0.14751	0.2637:0.0:0.7363:0.0	3.684	0.07855	924	0.18029	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	142.06	4	chr10	87228937	.	A	G	142.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=272;ExcessHet=0.0000;FS=3.332;InbreedingCoeff=-0.0301;MLEAC=1;MLEAF=0.024;MQ=32.03;MQRankSum=-8.760e-01;QD=15.78;ReadPosRankSum=2.52;SOR=0.061	GT:AD:DP:GQ:PL	0/1:3,6:9:85:156,0,85	20	0	1	0
chr10	94358207	94358207	T	G	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon3:c.A226C:p.I76L,	.	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.797	N	0.990	N	0	N	2.81	T	-0.939	T	0.012	T	0.106	-0.111	3.455	-0.725	-0.123	-0.725	3.931	0.067	0.0034288468139	0.0003	0.00159744	0.0011	0	0.0003	0	0	0.0005	0.0034	0.0054	0.0008991	139	154602	rs201609399	0.0007	0.0007	0.0006	0.0009	0.0056	0.0007	0.0007	0.0052	0.0051	3.258e-05	0.0003	3.974e-05	0	4.202e-05	0.0038	0.0004	0.0007	0.0056	0.0004	0.0004	0.0003	0.0005	0.0056	0.0003	0.0003	0.0040	0.0034	7.219e-05	0	0.0002	0	0	0	0.0034	0.0003	0.0014	0.0056	0.245	0.17410	T	0.307	0.19908	T	0.0	0.02946	B	0.0	0.01387	B	0.797379	0.09350	N	0.914340	0.999998	0.08975	N	-0.69	0.01958	N	2.81	0.10975	T	-0.38	0.13418	N	0.163	0.17140	-0.9391	0.42759	T	0.012	0.04795	T	10	0.0029897392	0.00049	T	0.003429	0.07725	T	0.067	0.19503	.	.	0.112648838833	0.10856	0.042212627361067956	0.04166	0.0728616512244	0.08163	0.361709415913	0.19635	T	0.00308	0.02484	T	-0.661495	0.00061	T	-0.721187	0.04738	T	0.00556541428405777	0.00061	T	0.448055	0.12582	T	0.09490478	0.22324	0.046338238	0.06438	0.09490478	0.22324	0.046338238	0.06438	-3.393	0.14963	T	.	.	0.063	0.01428	B	.	.	0.925427	0.13005	9.510	0.6068415711703673	0.06523	0.07444	0.13462	N	AEFGBI	0.052748	0.09444	N	-0.935021010084679	0.10030	0.47746	-0.873292965902725	0.12729	0.6564428	0.999907577523313	0.45458	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.31	-0.725	0.10610	-0.710000	0.05127	0.127000	0.14995	0.665000	0.62972	0.070000	0.22072	0.746000	0.26516	0.993000	0.69303	0.0:0.3042:0.1868:0.509	3.931	0.08785	411	0.82069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	588.98	33	chr10	94358207	.	T	G	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=738;ExcessHet=0.0000;FS=1.238;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.188;SOR=0.976	GT:AD:DP:GQ:PL	0/1:23,21:44:99:603,0,602	20	0	1	0
chr10	95194520	95194520	G	A	exonic	ACSM6	.	nonsynonymous SNV	ACSM6:NM_207321:exon2:c.G35A:p.R12Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.002	B	0.0	B	.	.	1.000	N	0.55	N	2.09	T	-0.966	T	0.026	T	0.151	-0.401	2.124	-0.846	-0.448	-2.097	5.595	0.002	0.00183871790671	.	0.000399361	4.601e-05	0	0	0	0	0.0001	0	0	1.94e-05	3	154602	rs530002609	2.715e-05	2.599e-05	2.256e-05	3.187e-05	0.0005	2.019e-05	1.768e-05	0.0001	7.633e-05	0	2.801e-05	0	0	0	0.0005	2.781e-05	5.169e-05	1.262e-05	5.254e-05	5.25e-05	6.426e-05	4.029e-05	0.0002	2.556e-05	1.829e-05	1.972e-05	1.124e-05	2.407e-05	0	0	0	0.0002	0	0	5.88e-05	0.0005	0.0002	0.384	0.11050	T	0.405	0.14771	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.09	0.20122	T	0.12	0.05604	N	0.082	0.05799	-0.9660	0.38013	T	0.026	0.11087	T	9	0.029834747	0.01110	T	0.001839	0.03193	T	0.002	0.00045	0.303	0.27164	0.0297737177859	0.01360	0.43194273519129744	0.43111	0.0235206642377	0.02386	.	.	.	0.013457	0.11635	T	-0.412305	0.01919	T	-0.707479	0.05426	T	0.0162841240760955	0.00399	T	0.459554	0.13284	T	0.023389552	0.01074	0.04017398	0.04283	0.023389552	0.01074	0.04017398	0.04282	-5.52	0.42054	T	.	.	0.096	0.15430	B	.;.	.;.	-0.317372	0.02543	0.306	0.61235939194240641	0.06659	0.00062	0.00453	N	AEFBI	0.022674	0.01163	N	-1.72066362010337	0.00771	0.03330364	-1.78730648131673	0.00801	0.03573457	0.00244670735675382	0.09436	0.553676	0.25195	0	0.588015	0.36545	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	1.6	-0.846	0.10190	-1.349000	0.02734	.	.	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5019:0.0:0.4981:0.0	5.595	0.16605	787	0.46738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	603.98	35	chr10	95194520	.	G	A	603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.576;DP=750;ExcessHet=0.0000;FS=2.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=-3.420e-01;SOR=0.391	GT:AD:DP:GQ:PL	0/1:39,26:65:99:618,0,970	20	0	1	0
chr10	95271745	95271745	T	C	exonic	PDLIM1	.	nonsynonymous SNV	PDLIM1:NM_020992:exon2:c.A136G:p.I46V,	.	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.009	B	0.012	B	0.000	N	0.999	D	-1.07	N	1.81	T	-1.021	T	0.019	T	0.073	-0.247	2.812	2.32	0.143	2.493	8.580	0.022	0.00275970819233	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs771556649	2.739e-06	2.736e-06	1.363e-06	4.13e-06	0.0002	6.4e-07	4.3e-07	9.3e-06	4.58e-06	0	0	0	0	0	0.0002	0	0	3.5e-05	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.208	0.19782	T	1.0	0.01155	T	0.009	0.15093	B	0.012	0.16012	B	0.000432	0.44522	N	0.280881	0.999199	0.46300	D	-0.69	0.01958	N	1.81	0.25182	T	0.34	0.03824	N	0.113	0.10056	-1.0210	0.23389	T	0.019	0.07753	T	10	0.14999548	0.28377	T	0.00276	0.05723	T	0.022	0.04323	0.457	0.52265	0.251116650651	0.24721	0.19771966542004837	0.19688	0.167327546539	0.18878	0.325504988432	0.14254	T	0.063804	0.32271	T	-0.342244	0.05233	T	-0.628756	0.10508	T	0.0541139075956051	0.06208	T	0.644935	0.25655	T	0.058951262	0.11921	0.071535565	0.15330	0.058951262	0.11920	0.071535565	0.15329	-3.094	0.11227	T	.	.	0.068	0.02639	B	.	.	1.009849	0.13890	10.44	0.44012170949604007	0.03354	0.80666	0.40245	D	AEFDBI	0.285224	0.39790	N	-0.665148042242268	0.17020	0.872305	-0.432061161433665	0.24062	1.315583	0.999902424449595	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	6.07	2.32	0.27895	2.802000	0.47612	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.2387:0.0:0.7613	8.580	0.32781	794	0.45591	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	0	0	0.02381	1003.98	35	chr10	95271745	.	T	C	1003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=788;ExcessHet=0.0000;FS=0.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=2.87;SOR=0.836	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1018,0,862	20	0	1	0
chr10	101131633	101131633	G	A	exonic	TLX1	.	nonsynonymous SNV	TLX1:NM_001195517:exon1:c.G92A:p.G31D	.	.	8	1463	49	2	0	53	0.0177912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.048	B	0.026	B	0.000	D	0.985	D	0.345	N	-2.53	D	-0.518	T	0.369	T	0.544	2.970	15.90	3.73	0.954	8.131	12.184	0.391	.	0.0066	0.00479233	0.0124	0.0012	0.0019	0.0001	0.0421	0.0129	0.0254	0.0220	0.0099481	1538	154602	rs140202357	0.0098	0.0097	0.0092	0.0103	0.0184	0.0096	0.0096	0.0177	0.0174	0.0013	0.0015	0.0137	0	0.0322	0.0060	0.0088	0.0096	0.0184	0.0084	0.0085	0.0072	0.0097	0.0203	0.0080	0.0079	0.0170	0.0158	0.0013	0	0.0028	0.0127	0	0.0349	0.0068	0.0096	0.0066	0.0203	0.638	0.06243	T	0.649	0.15406	T	0.048	0.22112	B	0.026	0.20792	B	0.000057	0.53742	D	0.164075	0.984985	0.40220	D	0.82	0.20857	L	-2.53	0.91478	D	-0.33	0.13805	N	0.192	0.32812	-0.5182	0.67981	T	0.369	0.72880	T	10	0.0049960017	0.00107	T	.	.	.	0.391	0.70684	.	.	.	.	0.46037251254148764	0.45955	.	.	0.819229006767	0.84909	D	0.21798	0.58058	T	-0.239343	0.15432	T	-0.10164	0.63272	T	0.028921175539287	0.01825	T	0.728227	0.34274	T	0.14294341	0.32873	0.24847181	0.50399	0.14294341	0.32873	0.24847181	0.50398	-4.792	0.34580	T	.	.	0.548	0.66696	A	.;.	.;.	4.201677	0.63414	24.6	0.99644381663851278	0.76881	0.97764	0.76963	D	AEFDBHCI	0.931201	0.91965	D	-0.303604622031528	0.29010	1.60506	-0.105627792787261	0.35162	2.031048	0.999999997067003	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.63	3.73	0.41982	6.640000	0.74174	9.236000	0.79390	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0849:0.0:0.9151:0.0	12.184	0.53533	765	0.49814	.;.	.	.	.	.	rs140202357	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1898.98	33	chr10	101131633	.	G	A	1898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.410e-01;DP=852;ExcessHet=0.0000;FS=1.238;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=9.000e-03;SOR=0.809	GT:AD:DP:GQ:PL	0/1:73,86:159:99:1913,0,1597	20	0	1	0
chr10	103379720	103379720	G	A	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon4:c.G1226A:p.S409N	.	.	426	1064	30	2	0	34	0.0157262	.	.	806380	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.43	T	0.004	B	0.004	B	0.000	D	1.000	D	0	N	0.64	T	-1.052	T	0.056	T	0.071	1.185	9.817	5.64	2.645	4.689	11.099	0.048	.	0.0056	0.00399361	0.0056	0.0011	0.0016	0	0.0003	0.0062	0.0055	0.0140	0.0057373	887	154602	rs142451092	0.0076	0.0076	0.0075	0.0078	0.0134	0.0075	0.0074	0.0121	0.0119	0.0009	0.0017	0.0087	2.524e-05	0.0004	0.0134	0.0083	0.0069	0.0128	0.0042	0.0042	0.0042	0.0043	0.0131	0.0040	0.0039	0.0105	0.0095	0.0013	0	0.0021	0.0113	0	0.0002	0	0.0065	0.0062	0.0131	0.422	0.09776	T	0.293	0.20811	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.84330	D	0.036225	0.999757	0.48800	D	0.44	0.12706	N	0.64	0.52867	T	-1.11	0.28703	N	0.176	0.18920	-1.0525	0.13709	T	0.056	0.23413	T	10	0.0035065114	0.00063	T	.	.	.	0.048	0.13305	.	.	0.529862097387	0.52634	0.3373209658794253	0.33645	0.713057731645	0.61797	0.604621291161	0.53557	T	0.013891	0.11931	T	-0.560698	0.00251	T	-0.567149	0.15713	T	0.0121472111995332	0.00194	T	0.79622	0.43953	T	0.13390729	0.31129	0.15192956	0.35767	0.13390729	0.31129	0.15192956	0.35766	-4.102	0.25320	T	.	.	0.094	0.14339	B	.	.	2.200970	0.28072	17.67	0.89981633994300625	0.19274	0.96506	0.69479	D	AEFBI	0.528536	0.55002	D	-0.143862010913901	0.35496	2.03962	0.105540337948869	0.44831	2.757352	0.99482769110017	0.33818	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.64	5.64	0.86480	4.786000	0.62117	5.017000	0.46715	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.1431:0.0:0.8569:0.0	11.099	0.47386	242	0.90534	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1790.11	34	chr10	103379720	.	G	A	1790.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.900e-02;DP=803;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.688;SOR=0.673	GT:AD:DP:GQ:PL	0/1:38,31:69:99:750,0,969	19	0	2	0
chr10	103388152	103388152	A	G	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_139052:exon10:c.A2167G:p.T723A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.99	D	0.000	D	1.000	D	2.835	M	-1.37	T	0.582	D	0.707	D	0.763	3.706	18.83	5.4	2.055	8.946	15.431	0.841	0.153609340134	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431240574	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.007	0.69154	D	0.994	0.66517	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.845	0.82663	M	-1.37	0.80214	T	-3.15	0.64132	D	0.688	0.69387	0.582	0.91665	D	0.707	0.89933	D	10	0.83080846	0.82244	D	0.153609	0.83485	D	0.841	0.95026	.	.	0.821531148444	0.81984	0.6559787097603832	0.65533	1.47671297988	0.86635	0.764473736286	0.76596	T	0.191236	0.54601	T	0.12907	0.67269	D	0.129151	0.78836	D	0.908570230007172	0.56319	D	0.956971	0.83666	D	0.7407828	0.80337	0.5462012	0.73768	0.7407828	0.80339	0.5462012	0.73768	-9.916	0.73407	D	.	.	0.471	0.63224	A	.	.	4.496758	0.70292	25.5	0.99777850043292171	0.86519	0.97136	0.72900	D	AEFGBCI	0.856461	0.77370	D	0.861716619515119	0.89765	10.10797	0.813717239527016	0.90731	10.54226	0.999999999973265	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	8.931000	0.92411	11.280000	0.91702	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.431	0.74828	255	0.89985	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1388.98	40	chr10	103388152	.	A	G	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.185;DP=864;ExcessHet=0.0000;FS=2.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-2.230e-01;SOR=0.978	GT:AD:DP:GQ:PL	0/1:46,58:104:99:1403,0,1035	20	0	1	0
chr10	104186125	104186125	T	C	splicing	CFAP43	NM_025145:exon15:c.1861-2A>G	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.586	7.162	4.66	1.026	3.889	8.678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0329111	0.56111	T	-0.190502	0.55543	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.957575	0.58026	23.9	0.82099679945918524	0.14018	0.95451	0.64773	D	AEFBI	.	.	.	0.78793449362315	0.85345	8.548297	0.57726273386018	0.73315	5.950073	0.0706909436537813	0.15537	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.257714	0.33053	5.8	4.66	0.57857	3.949000	0.56377	7.747000	0.68085	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.414000	0.27095	0.0:0.086:0.0:0.914	8.678	0.33356	97	0.95994	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	527.98	36	chr10	104186125	.	T	C	527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.130;DP=753;ExcessHet=0.0000;FS=1.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-6.170e-01;SOR=1.017	GT:AD:DP:GQ:PL	0/1:24,23:47:99:542,0,566	20	0	1	0
chr10	106730082	106730082	A	G	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_001013031:exon6:c.T992C:p.L331P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.991	D	0.000	D	1.000	D	2.28	M	0.81	T	-0.537	T	0.284	T	0.955	3.851	19.56	5.8	2.216	5.061	12.537	0.570	0.0576294505343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.979	0.74454	D	0.000025	0.55875	D	0.074944	1	0.81001	D	2.83	0.82355	M	0.81	0.48460	T	-4.73	0.80085	D	0.854	0.85027	-0.5372	0.67270	T	0.284	0.65616	T	9	0.7592543	0.76218	D	0.057629	0.67035	D	0.570	0.82516	0.755	0.88484	0.537527660974	0.53403	0.8420690533099604	0.84166	1.13854889537	0.78850	0.687743008137	0.65381	T	0.399764	0.75752	T	0.26906	0.80357	D	0.14871	0.80103	D	0.995599627494812	0.87712	D	0.832417	0.50060	T	0.9213448	0.93378	0.9138317	0.95960	0.9213448	0.93379	0.9138317	0.95961	-12.219	0.85901	D	.	.	0.961	0.88145	P	.;.;.;.	.;.;.;.	5.011837	0.83234	28.0	0.99913677270863899	0.98238	0.93762	0.59118	D	AEFI	0.770813	0.70564	D	0.663040809290395	0.77214	6.632097	0.643096386204326	0.78099	6.808312	0.104797029332518	0.16485	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	5.311000	0.65574	11.144000	0.87156	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.537	0.55492	738	0.53389	Sortilin, N-terminal|VPS10;Sortilin, N-terminal|VPS10;Sortilin, N-terminal|VPS10;Sortilin, N-terminal|VPS10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1149.98	34	chr10	106730082	.	A	G	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.260e-01;DP=786;ExcessHet=0.0000;FS=2.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.032e+00;SOR=0.474	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1164,0,1062	20	0	1	0
chr10	117209504	117209504	-	T	exonic	KCNK18	.	frameshift insertion	KCNK18:NM_181840:exon3:c.361dupT:p.Y121Lfs*44,	.	.	417	1090	14	1	0	16	0.00728597	.	.	227335	Migraine,_with_or_without_aura,_susceptibility_to,_13|not_provided	MONDO:MONDO:0013344,MedGen:C4225479,OMIM:613656|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.00319489	0.0028	0.0001	0.0005	0.0029	0	9.194e-05	0.0033	0.0178	0.002335	361	154602	rs1085307076	0.0015	0.0015	0.0009	0.0021	0.0193	0.0014	0.0014	0.0186	0.0182	8.962e-05	0.0004	0	0.0085	0	0.0019	4.497e-05	0.0017	0.0193	0.0008	0.0008	0.0004	0.0012	0.0195	0.0007	0.0006	0.0163	0.0152	7.22e-05	0	0.0003	0	0.0021	0	0	4.41e-05	0.0014	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2935.94	41	chr10	117209504	.	C	CT	2935.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.64;DP=975;ExcessHet=0.0000;FS=7.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.248;SOR=1.113	GT:AD:DP:GQ:PL	0/1:162,100:262:99:2950,0,5254	20	0	1	0
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.104	B	0.062	B	0.000	D	1.000	D	1.61	L	-4.25	D	0.479	D	0.815	D	0.101	0.944	8.847	4.65	1.342	3.173	14.037	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	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	0.1	44.77	122	chr10	119898750	.	C	G	44.77	.	AC=2;AF=0.100;AN=20;BaseQRankSum=-4.517e+00;DP=2787;ExcessHet=0.1072;FS=257.260;InbreedingCoeff=-0.2250;MLEAC=3;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=0.497;SOR=10.061	GT:AD:DP:GQ:PL	0/1:132,47:179:14:14,0,2709	8	0	2	11
chr10	122083955	122083955	C	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.C1455A:p.D485E	.	.	415	1056	46	5	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.002	B	0.262	N	1.000	N	0	N	4.17	T	-0.928	T	0.004	T	0.019	1.850	12.15	2.09	1.165	0.385	4.328	0.089	.	0.0022	0.00299521	0.0037	0.0007	0.0031	0.0001	0.0003	0.0034	0.0055	0.0104	0.0034864	539	154602	rs145676536	0.0033	0.0033	0.0030	0.0036	0.0120	0.0033	0.0032	0.0097	0.0090	0.0004	0.0028	0.0007	7.557e-05	0.0005	0.0120	0.0032	0.0033	0.0098	0.0025	0.0025	0.0023	0.0026	0.0110	0.0023	0.0022	0.0087	0.0078	0.0007	0	0.0020	0.0003	0.0002	0.0005	0.0068	0.0035	0.0057	0.0110	0.008	0.58626	D	0.126	0.35205	T	0.002	0.09854	B	0.002	0.06944	B	0.262279	0.15291	N	0.547859	1	0.08975	N	0.345	0.11182	N	4.17	0.02815	T	-0.1	0.08495	N	0.031	0.02366	-0.9281	0.44415	T	0.004	0.01192	T	10	0.0039937794	0.00077	T	.	.	.	0.089	0.25827	0.104	0.01698	0.458734620958	0.45498	0.030146240398800345	0.02963	0.0937766726545	0.10591	0.249824970961	0.03749	T	0.015022	0.12680	T	-0.725202	0.00026	T	-0.807087	0.01731	T	0.00369449383288313	0.00039	T	0.534247	0.17838	T	0.067040615	0.14481	0.0355286	0.02821	0.067040615	0.14480	0.0355286	0.02820	-2.931	0.09457	T	.	.	0.182	0.39545	B	.;.;.;.;.	.;.;.;.;.	0.702582	0.10711	7.406	0.93754106037824991	0.23697	0.12649	0.17397	N	AEFDBI	.	.	.	-0.892877548156124	0.11010	0.529115	-0.868507421659128	0.12844	0.6630197	0.614784024267148	0.21834	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.13	2.09	0.26154	-0.185000	0.09679	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1566:0.5969:0.1531:0.0934	4.328	0.10488	944	0.12746	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2663.98	41	chr10	122083955	.	C	A	2663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=1235;ExcessHet=0.0000;FS=1.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-7.410e-01;SOR=0.867	GT:AD:DP:GQ:PL	0/1:80,99:179:99:2678,0,1958	20	0	1	0
chr10	122630455	122630455	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon32:c.C3719T:p.T1240I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.963	D	0.795	P	.	.	1.000	N	1.51	L	2.22	T	-1.087	T	0.046	T	0.076	-0.071	3.656	-5.81	-1.224	-1.307	3.023	0.014	0.00258880280335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.23631	T	0.559	0.22494	T	0.34	0.55692	B	0.234	0.57940	B	.	.	.	.	1	0.08975	N	2	0.54354	M	2.22	0.18248	T	-1.47	0.42001	N	0.052	0.05542	-1.0871	0.06030	T	0.046	0.19839	T	9	0.14473486	0.27464	T	0.002589	0.05235	T	0.014	0.01968	0.5	0.59147	0.274366138417	0.27033	0.24713576942749377	0.24627	0.637711510295	0.57507	0.34586763382	0.17312	T	0.028926	0.20840	T	-0.366901	0.03754	T	-0.764804	0.02943	T	0.0788170397281647	0.09834	T	0.434357	0.12177	T	0.07166354	0.15884	0.096076265	0.22813	0.07166354	0.15884	0.096076265	0.22813	-6.039	0.46604	T	.	.	0.192	0.41125	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.666980	0.01399	0.081	0.23914371949274754	0.01033	0.01069	0.03960	N	AEFBI	0.035356	0.04537	N	-1.32933252205148	0.03344	0.1492153	-1.48356803073656	0.02479	0.1140705	0.884694047195464	0.25701	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.45	-5.81	0.02148	-1.469000	0.02454	.	.	-0.861000	0.02628	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.1051:0.3878:0.1036:0.4035	3.023	0.05712	571	0.70397	.;.;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1364.98	35	chr10	122630455	.	C	T	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.214;DP=845;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=-4.530e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/1:80,58:138:99:1379,0,2029	20	0	1	0
chr10	122640247	122640247	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon39:c.G4879A:p.V1627M	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.983	D	0.635	P	0.011	U	1.000	N	2.465	M	-1.71	D	-0.409	T	0.503	D	0.225	2.014	12.69	0.208	0.001	0.263	2.586	0.267	0.0315176437828	0.0026	0.000998403	0.0022	0.0004	0.0003	0	0.0023	0.0032	0.0011	0.0014	0.0020828	322	154602	rs183135544	0.0028	0.0028	0.0027	0.0028	0.0032	0.0027	0.0027	0.0031	0.0031	0.0004	0.0004	0.0005	0	0.0024	0.0010	0.0032	0.0021	0.0016	0.0021	0.0021	0.0021	0.0020	0.0033	0.0019	0.0018	0.0029	0.0028	0.0006	0	0.0012	0.0006	0	0.0034	0	0.0033	0.0024	0.0006	0.081	0.36912	T	0.105	0.38016	T	0.979	0.60381	D	0.502	0.51908	P	0.010798	0.29783	U	0.000000	1	0.08975	N	2.765	0.80766	M	-1.71	0.83157	D	-1.62	0.38924	N	0.369	0.43417	-0.4095	0.71726	T	0.503	0.81247	D	10	0.013334274	0.00283	T	0.031518	0.53580	D	0.267	0.58126	.	.	0.786567500088	0.78459	0.17080662980564693	0.17000	0.623573042438	0.56593	0.482136130333	0.36351	T	0.245258	0.61452	T	-0.360507	0.04102	T	-0.29241	0.45522	T	0.0439521328280423	0.04412	T	0.79692	0.44048	T	0.06731818	0.14567	0.08001072	0.18063	0.06731818	0.14566	0.08001072	0.18062	-10.267	0.75495	D	.	.	0.541	0.68429	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.515562	0.32499	19.06	0.99698241882032468	0.80453	0.09901	0.15550	N	AEFDBI	0.104058	0.20832	N	-0.277782267404321	0.30008	1.669294	-0.483900478332425	0.22596	1.228123	0.117551179293132	0.16804	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.53	0.208	0.14498	0.105000	0.15169	.	.	0.676000	0.76740	0.007000	0.17678	0.970000	0.29701	0.870000	0.41412	0.1838:0.1074:0.4884:0.2205	2.586	0.04537	570	0.70478	.;.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3714.98	35	chr10	122640247	.	G	A	3714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=1062;ExcessHet=0.0000;FS=2.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.642;SOR=0.625	GT:AD:DP:GQ:PL	0/1:145,145:290:99:3729,0,3734	20	0	1	0
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,246,0:246:99:1|1:124021236_CG_C:10777,10777,10777,740,740,0,10777,10777,740,10777:124021236	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,246,0:246:99:1|1:124021236_CG_C:10777,10777,10777,740,740,0,10777,10777,740,10777:124021236	0	0	1	0
chr10	124834526	124834526	G	A	exonic	ABRAXAS2	.	nonsynonymous SNV	ABRAXAS2:NM_032182:exon9:c.G803A:p.R268K,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.759	P	0.4	B	0.003	N	0.977	D	0.895	L	0.84	T	-1.057	T	0.116	T	0.361	4.124	21.3	6.02	2.865	6.333	18.721	0.077	.	.	0.00319489	0.0012	0	8.76e-05	0	0.0002	4.557e-05	0.0046	0.0082	0.0010284	159	154602	rs368806973	0.0005	0.0005	0.0003	0.0007	0.0070	0.0005	0.0004	0.0065	0.0063	2.987e-05	2.236e-05	0	5.038e-05	1.873e-05	0.0003	6.295e-05	0.0005	0.0070	0.0003	0.0003	0.0002	0.0003	0.0079	0.0002	0.0002	0.0059	0.0052	2.406e-05	0	0	0	0	0	0	0	0	0.0079	0.094	0.31383	T	0.449	0.12993	T	0.759	0.43487	P	0.4	0.44481	B	0.002953	0.35672	N	0.330026	0.976835	0.39311	D	.	.	.	0.84	0.47477	T	-0.42	0.14193	N	0.193	0.21188	-1.0566	0.12621	T	0.116	0.40942	T	10	0.005426109	0.00119	T	.	.	.	0.077	0.22490	0.245	0.17984	0.658058094355	0.65520	0.26065719012012006	0.25979	0.830019178665	0.67582	0.500873565674	0.38951	T	0.044913	0.26961	T	-0.410001	0.01987	T	-0.357429	0.38351	T	0.0373369052582281	0.03214	T	0.773923	0.40554	T	0.10704238	0.25311	0.116656154	0.28161	0.10704238	0.25311	0.116656154	0.28160	-4.056	0.24639	T	.	.	0.096	0.15160	B	.	.	3.291169	0.45137	22.1	0.9934336807269476	0.60291	0.98885	0.88157	D	AEFDBI	0.579203	0.58010	D	0.317110918589403	0.57026	3.868598	0.445743300355964	0.64443	4.699735	0.999999949660463	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	6.827000	0.75095	8.344000	0.77000	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	18.721	0.91657	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1435.98	34	chr10	124834526	.	G	A	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.425;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=-1.600e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1450,0,1628	20	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,41:123:99:0|1:124989533_G_A:1433,0,3222:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:80,28:108:99:724,0,2663	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:95,20:115:99:251,0,2601	2	0	13	6
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V	.	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.194	B	0.09	B	0.000	D	0.999	D	0.55	N	-1.7	D	-0.359	T	0.375	T	0.715	2.521	14.39	5.12	2.665	5.242	16.928	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2443.96	41	chr10	124989594	.	G	A	2443.96	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.716e+00;DP=2367;ExcessHet=2.5830;FS=12.019;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.211;MQ=55.23;MQRankSum=-7.172e+00;QD=2.31;ReadPosRankSum=-2.830e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,15:138:99:0|1:124989594_G_A:147,0,5090:124989594	12	0	7	2
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,14:147:99:0|1:124994489_T_G:188,0,5502:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,17:154:99:0|1:124994489_T_G:281,0,5677:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,18:157:99:0|1:124994489_T_G:295,0,5731:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,24:175:99:0|1:124994523_G_A:504,0,6037:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:154,25:179:93:93,0,4096	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:151,26:177:99:107,0,3997	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,31:184:99:0|1:124994577_C_A:738,0,6204:124994577	0	0	21	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S	.	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.972	D	0.000	D	1.000	D	0.21	N	-1.24	T	0.015	D	0.436	T	0.965	4.582	24.9	4.73	2.329	7.484	18.072	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2613.45	155	chr10	124998077	.	C	G	2613.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.989e+00;DP=3731;ExcessHet=4.7172;FS=12.784;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.708e+00;QD=1.59;ReadPosRankSum=1.79;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,13:165:88:0|1:124998077_C_G:88,0,6323:124998077	2	0	9	10
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R	.	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.17	N	-1.31	T	0.036	D	0.482	T	0.76	4.180	21.6	4.73	2.329	9.471	18.072	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2556.39	158	chr10	124998080	.	G	C	2556.39	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-9.380e-01;DP=3732;ExcessHet=4.7172;FS=9.991;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.738e+00;QD=1.54;ReadPosRankSum=2.17;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,13:168:79:0|1:124998077_C_G:79,0,6469:124998077	2	0	9	10
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G	.	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.834	P	0.000	D	1.000	D	0.605	N	-1.44	T	-0.139	T	0.443	T	0.98	3.339	17.24	0.468	-0.119	-0.061	17.140	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4091	2505.45	158	chr10	124998087	.	T	C	2505.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.870e+00;DP=3764;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.73;MQRankSum=-8.711e+00;QD=1.49;ReadPosRankSum=3.13;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,13:173:64:0|1:124998077_C_G:64,0,6679:124998077	2	0	9	10
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W	.	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.345	M	-2.1	D	0.927	D	0.842	D	0.994	4.577	24.9	4.73	2.329	2.969	18.072	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2454.45	160	chr10	124998090	.	G	A	2454.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-6.220e-01;DP=3768;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.75;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=3.67;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,13:175:58:0|1:124998077_C_G:58,0,6733:124998077	2	0	9	10
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G	.	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.792	P	0.742	P	0.000	D	1.000	D	-2.125	N	-1.16	T	-0.313	T	0.196	T	0.932	4.200	21.8	4.73	1.888	8.957	14.522	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2457.45	157	chr10	124998111	.	A	C	2457.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.854e+00;DP=3819;ExcessHet=4.7172;FS=10.323;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=4.32;SOR=1.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,13:168:79:0|1:124998111_A_C:79,0,6429:124998111	2	0	9	10
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T	.	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.071	B	0.56	P	0.006	N	0.988	D	2.42	M	0.83	T	-0.464	T	0.283	T	0.768	3.273	16.99	4.73	1.888	7.155	14.522	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2409.45	160	chr10	124998113	.	A	G	2409.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.285e+00;DP=3825;ExcessHet=4.7172;FS=8.581;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.41;ReadPosRankSum=4.07;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,13:171:70:0|1:124998111_A_C:70,0,6510:124998111	2	0	9	10
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2: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	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.130	37	5.28	2.217	5.606	13.948	.	.	.	.	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039033	.	T	A	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.532e+00;DP=2371;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.76;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.141;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,12:144:99:0|1:125039033_T_A:107,0,5439:125039033	9	0	12	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R	.	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	.	.	1.000	N	1.61	L	-1.53	D	-0.716	T	0.384	T	0.78	2.124	13.06	5.28	2.217	5.606	13.948	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039035	.	T	C	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.484e+00;DP=2344;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.74;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.412;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,12:144:99:0|1:125039033_T_A:107,0,5439:125039033	9	0	12	0
chr10	132924795	132924795	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon11:c.C1157T:p.T386M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	N	.	.	0.53	T	-0.875	T	0.196	T	0.486	2.369	13.88	3.53	1.982	6.180	12.465	0.208	0.0898518613755	.	.	0.0001	0	0	0	0	0.0004	0	0	1.29e-05	2	154602	rs762427361	2.938e-05	3.557e-05	3.181e-05	2.687e-05	0.0004	2.214e-05	1.95e-05	0.0002	0.0002	0	0.0004	0	0.0001	0	0.0002	1.506e-05	8.864e-05	1.34e-05	2.628e-05	2.626e-05	2.568e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	2.259e-05	9.07e-06	0	0	0.0001	0	0.0002	0	0	1.47e-05	0	0	0.061	0.37118	T	0.098	0.39040	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.53	0.55090	T	-3.24	0.65171	D	0.636	0.64903	-0.8748	0.50166	T	0.196	0.55042	T	6	0.40097713	0.55564	T	0.089852	0.75405	D	0.208	0.49714	0.355	0.35571	0.350307294319	0.34646	0.2104324096558858	0.20959	0.507810000154	0.48961	0.738527774811	0.72755	T	0.056799	0.30390	T	-0.268137	0.11966	T	-0.261026	0.48723	T	0.258515828625639	0.23250	T	0.828317	0.49240	T	0.07722579	0.17516	0.18069057	0.40885	0.07722579	0.17515	0.18069057	0.40884	-8.379	0.63625	D	.	.	0.156	0.34580	B	.	.	4.287056	0.65350	24.8	0.99765132125334899	0.85417	0.87653	0.47264	D	AEFBI	0.639228	0.61736	D	0.00805920580350525	0.42221	2.539871	-0.077646399917081	0.36317	2.111906	0.878855969700126	0.25575	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	3.53	3.53	0.39533	7.107000	0.76688	9.452000	0.80851	0.665000	0.62972	0.969000	0.34210	1.000000	0.68203	0.352000	0.25704	0.0:0.0:1.0:0.0	12.465	0.55094	994	0.00715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1279.98	43	chr10	132924795	.	G	A	1279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.431;DP=850;ExcessHet=0.0000;FS=0.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=-7.820e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/1:39,51:90:99:1294,0,905	20	0	1	0
chr10	133178866	133178866	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_001347865:exon4:c.G392A:p.R131H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390062632	0	1.59e-06	0	0	.	0	0	.	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	619.98	36	chr10	133178866	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=713;ExcessHet=0.0000;FS=1.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.79;ReadPosRankSum=0.882;SOR=0.446	GT:AD:DP:GQ:PL	0/1:10,23:33:99:634,0,219	20	0	1	0
chr11	379932	379932	G	A	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon16:c.G2555A:p.G852E,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.89	P	0.722	P	0.037	N	0.735	N	2.015	M	1.33	T	-0.925	T	0.129	T	0.284	2.777	15.25	3.73	2.073	3.990	7.172	0.093	0.0856462915824	0.0015	0.000599042	0.0012	0.0006	0.0006	0	0.0005	0.0017	0.0012	0.0012	0.0012678	196	154602	rs142417965	0.0017	0.0017	0.0017	0.0017	0.0026	0.0017	0.0016	0.0020	0.0019	0.0005	0.0007	7.667e-05	0	0.0003	0.0026	0.0020	0.0012	0.0012	0.0012	0.0012	0.0012	0.0011	0.0020	0.0010	0.0010	0.0017	0.0016	0.0003	0.0033	0.0008	0	0.0002	0.0002	0	0.0020	0.0014	0.0010	0.073	0.34800	T	0.094	0.39645	T	0.89	0.48942	P	0.722	0.54942	P	0.036798	0.24479	N	0.441217	0.735319	0.29789	N	2.375	0.68372	M	1.33	0.35031	T	-2.75	0.58407	D	0.44	0.47857	-0.9254	0.44801	T	0.129	0.43828	T	10	0.033746183	0.01560	T	0.085646	0.74576	D	0.093	0.26882	.	.	0.20808081866	0.20439	0.6298822414055181	0.62922	1.24987049093	0.81773	0.589207470417	0.51382	T	0.00883	0.08077	T	-0.444658	0.01214	T	-0.417973	0.31308	T	0.0418535294757889	0.04028	T	0.841416	0.51702	T	0.15560213	0.35159	0.2009445	0.44051	0.15560213	0.35158	0.2009445	0.44050	-11.355	0.81569	D	.	.	0.202	0.42621	B	.	.	3.884587	0.56480	23.7	0.99664533905987396	0.78138	0.69370	0.34161	D	AEFDBI	0.154599	0.27965	N	0.318976080660332	0.57122	3.878532	0.252621611609784	0.52797	3.452292	0.414651901236141	0.20242	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.73	3.73	0.41982	4.120000	0.57646	8.276000	0.76896	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.164000	0.20782	0.2586:0.0:0.7414:0.0	7.172	0.24899	884	0.28482	.	.	.	.	.	.	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	0.02381	1515.98	39	chr11	379932	.	G	A	1515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.280;DP=956;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=-4.600e-01;SOR=0.578	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1530,0,1160	20	0	1	0
chr11	400024	400024	C	T	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon6:c.C1331T:p.T444M	.	.	423	1079	19	1	0	21	0.00963745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.925	D	0.000	U	0.998	D	1.59	L	0.78	T	-0.683	T	0.136	T	0.567	2.891	15.63	4.19	2.061	4.460	16.942	0.243	.	0.0074	0.0071885	0.0101	0.0038	0.0096	0	0.0161	0.0125	0.0172	0.0080	0.0074061	1145	154602	rs151201080	0.0096	0.0096	0.0098	0.0095	0.0130	0.0095	0.0095	0.0104	0.0104	0.0018	0.0077	0.0041	0	0.0119	0.0130	0.0106	0.0094	0.0061	0.0074	0.0074	0.0075	0.0072	0.0109	0.0070	0.0069	0.0103	0.0100	0.0019	0.0033	0.0093	0.0055	0.0002	0.0092	0.0034	0.0109	0.0090	0.0037	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.925	0.65999	D	0.000016	0.62929	U	0.066416	0.99842	0.44899	D	1.955	0.52871	M	0.78	0.49358	T	-2.24	0.50175	N	0.778	0.77507	-0.6833	0.61220	T	0.136	0.45164	T	10	0.009129167	0.00206	T	.	.	.	0.243	0.54921	.	.	0.727257869051	0.72483	0.5972029706985712	0.59651	0.419819143065	0.42524	0.769279301167	0.77316	T	0.258324	0.62947	T	-0.358292	0.04227	T	-0.279476	0.46858	T	0.0186109962534885	0.00575	T	0.919808	0.70989	D	0.18480209	0.39812	0.21133934	0.45558	0.18480209	0.39811	0.21133934	0.45557	-5.307	0.40012	T	.	.	0.326	0.54926	B	.	.	4.638468	0.73819	26.1	0.99898403714163153	0.97048	0.94407	0.61067	D	AEFDBI	0.476224	0.51973	N	0.438484043992529	0.63552	4.591233	0.365264395701364	0.59433	4.121001	0.974547197406394	0.29552	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	4.19	4.19	0.48645	2.464000	0.44724	5.758000	0.49667	0.575000	0.29119	0.977000	0.34929	1.000000	0.68203	0.864000	0.41028	0.0:1.0:0.0:0.0	16.942	0.86090	895	0.25842	.	.	.	CDHR5	Colon_Transverse	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	908.98	34	chr11	400024	.	C	T	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=779;ExcessHet=0.0000;FS=0.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=-5.830e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:36,39:75:99:923,0,758	20	0	1	0
chr11	824624	824624	A	G	exonic	PNPLA2	.	nonsynonymous SNV	PNPLA2:NM_020376:exon10:c.A1277G:p.N426S,	Neutral lipid storage disease with myopathy, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	425945	not_provided|Neutral_lipid_storage_myopathy	MedGen:C3661900|MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.005	B	0.003	B	0.006	N	0.926	N	0.435	N	1.54	T	-0.974	T	0.022	T	0.009	-0.127	3.377	-3.83	-0.854	0.354	12.088	0.039	0.00683594951044	0.0016	0.000798722	0.0022	0.0013	0.0012	0.0002	0	0.0032	0.0027	0.0013	0.0010608	164	154602	rs140634178	0.0020	0.0020	0.0020	0.0020	0.0024	0.0019	0.0019	0.0023	0.0023	0.0005	0.0006	7.735e-05	2.551e-05	0.0002	0.0004	0.0024	0.0020	0.0008	0.0012	0.0012	0.0012	0.0012	0.0020	0.0011	0.0010	0.0017	0.0016	0.0006	0.0022	0.0010	0	0.0004	0	0	0.0020	0.0009	0.0006	0.506	0.07594	T	0.649	0.06762	T	0.005	0.12996	B	0.003	0.08700	B	0.005751	0.32538	N	0.351400	0.926257	0.27173	N	0.615	0.15706	N	1.54	0.30133	T	0.11	0.05706	N	0.03	0.00717	-0.9738	0.36387	T	0.022	0.09284	T	10	0.005394697	0.00118	T	0.006836	0.18065	T	0.039	0.10176	.	.	0.110078149338	0.10416	0.08222978001075408	0.08157	0.176759458968	0.19889	0.503060936928	0.39254	T	0.110864	0.42590	T	-0.686335	0.00044	T	-0.765434	0.02921	T	0.00331642030222193	0.00035	T	0.734627	0.35069	T	0.01713363	0.00248	0.029928904	0.01387	0.014671594	0.00103	0.028322564	0.01058	-2.053	0.03388	T	.	.	0.054	0.00315	B	.	.	-0.575701	0.01639	0.114	0.32044130761332185	0.01837	0.28718	0.23630	N	AEFDBHCI	0.069475	0.13753	N	-1.42650996599508	0.02408	0.1062897	-1.35272457139168	0.03774	0.1767301	0.999749547647046	0.42466	0.706548	0.73137	0	0.643519	0.57511	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.59	-3.83	0.03988	0.486000	0.22048	0.667000	0.20560	-0.904000	0.02305	0.985000	0.35982	0.969000	0.29651	0.043000	0.14563	0.4846:0.0:0.5154:0.0	12.088	0.53005	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	743.98	37	chr11	824624	.	A	G	743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=1.15;SOR=0.663	GT:AD:DP:GQ:PL	0/1:46,31:77:99:758,0,1113	20	0	1	0
chr11	862716	862718	AGG	-	exonic	TSPAN4	.	nonframeshift deletion	TSPAN4:NM_001025238:exon3:c.230_232del:p.E78del	.	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.000798722	0.0016	0.0004	0.0006	0.0001	0.0011	0.0023	0.0024	0.0010	0.0013971	216	154602	rs562370781	0.0024	0.0024	0.0025	0.0024	0.0029	0.0024	0.0023	0.0028	0.0028	0.0004	0.0006	3.836e-05	2.52e-05	0.0011	0.0003	0.0029	0.0024	0.0007	0.0016	0.0016	0.0015	0.0017	0.0027	0.0014	0.0014	0.0024	0.0022	0.0006	0.0022	0.0009	0	0.0002	0.0010	0	0.0027	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1132.94	41	chr11	862715	.	AAGG	A	1132.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=864;ExcessHet=0.0000;FS=1.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.12;ReadPosRankSum=0.977;SOR=1.082	GT:AD:DP:GQ:PL	0/1:20,29:49:99:1147,0,752	20	0	1	0
chr11	1016881	1016881	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5920A:p.G1974R,	.	.	282	1233	6	1	0	8	0.00323363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.239	B	0.114	B	.	.	1.000	N	1.155	L	2.27	T	-0.984	T	0.026	T	0.117	-0.279	2.663	-4.06	-2.025	-0.100	7.679	0.036	0.00103325632618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282982114	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.019	0.50132	D	0.126	0.35205	T	0.239	0.30839	B	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.27	0.17431	T	-1.05	0.27463	N	0.078	0.05287	-0.9842	0.34022	T	0.026	0.11220	T	9	0.06405285	0.08436	T	0.001033	0.01144	T	0.036	0.09122	0.338	0.32816	0.192905019026	0.18896	0.14932920051736123	0.14854	0.521877933732	0.49939	0.205686062574	0.00641	T	0.030745	0.21720	T	-0.30016	0.08644	T	-0.668936	0.07676	T	0.149228978490301	0.17042	T	.	.	.	0.11304487	0.26702	0.06163316	0.11934	0.11304487	0.26702	0.06163316	0.11933	-7.981	0.60941	D	.	.	0.118	0.23952	B	.	.	1.233689	0.16288	12.44	0.76633010661181944	0.11547	0.03963	0.09370	N	AEFDGBCI	0.041382	0.06283	N	-1.28708027589074	0.03830	0.1718021	-1.45389755068842	0.02735	0.1263413	0.999999866413803	0.74766	0.675202	0.55065	0	0.639134	0.57113	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.03	-4.06	0.03718	-0.118000	0.10665	0.000000	0.13247	0.545000	0.25583	0.000000	0.06391	0.011000	0.20116	0.001000	0.02609	0.1633:0.5026:0.3341:0.0	7.679	0.27672	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	114.98	879	chr11	1016881	.	C	T	114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=18318;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.09;MQRankSum=-5.022e+00;QD=0.20;ReadPosRankSum=0.974;SOR=0.778	GT:AD:DP:GQ:PL	0/1:543,42:585:99:129,0,22674	20	0	1	0
chr11	1016905	1016905	A	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T5896A:p.F1966I,	.	.	296	1216	10	0	0	10	0.004095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.005	B	0.004	B	.	.	1.000	N	0.345	N	2.16	T	-0.981	T	0.022	T	0.121	0.829	8.340	-3.31	-0.826	-0.344	3.382	0.002	0.00421767754056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369592014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0011	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.205	0.20002	T	0.395	0.15255	T	0.005	0.12996	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.295	0.32453	L	2.16	0.19166	T	-0.63	0.18459	N	0.144	0.14480	-0.9809	0.34794	T	0.022	0.09147	T	9	0.046243697	0.03791	T	0.004218	0.10184	T	0.002	0.00045	.	.	0.119812018005	0.11559	0.13677124270889138	0.13601	0.530745344026	0.50606	0.203865617514	0.00578	T	0.028633	0.20698	T	-0.335171	0.05730	T	-0.719227	0.04833	T	0.0654084905982018	0.07992	T	.	.	.	0.035379708	0.04153	0.033076324	0.02143	0.035379708	0.04153	0.033076324	0.02143	-9.016	0.67800	D	.	.	0.105	0.19398	B	.	.	0.557307	0.09259	6.041	0.85651716146356816	0.16026	0.01975	0.05977	N	AEFDGBCI	0.028454	0.02510	N	-1.53454620578347	0.01627	0.0711344	-1.60038129960586	0.01653	0.07503599	0.99999748474377	0.74766	0.69289	0.55638	0	0.001931	0.00023	2	0.634913	0.45138	1	0.264475	0.05362	3	.	.	3.12	-3.31	0.04677	-3.997000	0.00358	-12.137000	0.00548	-1.664000	0.00809	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3258:0.0:0.3614:0.3128	3.382	0.06835	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	319.98	796	chr11	1016905	.	A	T	319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.956e+00;DP=16484;ExcessHet=0.0000;FS=1.024;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.78;MQRankSum=-3.292e+00;QD=0.70;ReadPosRankSum=1.80;SOR=0.713	GT:AD:DP:GQ:PL	0/1:419,38:457:99:334,0,17479	20	0	1	0
chr11	1016947	1016947	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5854A:p.A1952T,	.	.	310	1208	4	0	0	4	0.00165289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.001	B	0.001	B	.	.	1.000	N	1.155	L	2.16	T	-0.952	T	0.028	T	0.027	1.348	10.43	-2.1	-0.400	-0.966	4.543	0.005	0.00510987525816	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231704494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.321e-05	0.0031	2.585e-05	0	2.421e-05	2.2e-06	8.2e-07	.	.	2.421e-05	0	0	0	0	0	0	1.48e-05	0	0	0.084	0.32929	T	0.89	0.03134	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.16	0.19166	T	0.03	0.06612	N	0.021	0.00339	-0.9517	0.40678	T	0.028	0.12014	T	9	0.056096375	0.06235	T	0.00511	0.12970	T	0.005	0.00259	.	.	0.143124449307	0.13826	0.0819202071560189	0.08127	0.449518881182	0.44739	0.16749317944	0.00024	T	0.008032	0.07391	T	-0.41748	0.01775	T	-0.837458	0.01138	T	0.0973756408423132	0.12065	T	.	.	.	0.035765704	0.04273	0.054211512	0.09279	0.035765704	0.04273	0.054211512	0.09279	-6.49	0.50209	T	.	.	0.073	0.04477	B	.	.	-0.259542	0.02800	0.384	0.90664406899768024	0.19915	0.00422	0.02082	N	AEFDGBCI	0.016128	0.00345	N	-1.28484675540521	0.03857	0.1730705	-1.37142780317007	0.03560	0.166289	0.999991833278382	0.74766	0.69289	0.55638	0	0.001931	0.00023	2	0.634913	0.45138	1	0.264475	0.05362	3	.	.	3.12	-2.1	0.06809	-1.116000	0.03397	-9.636000	0.00795	-0.322000	0.05848	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5005:0.1801:0.3194	4.543	0.11466	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	77.98	607	chr11	1016947	.	C	T	77.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.024e+00;DP=13265;ExcessHet=0.0000;FS=1.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.04;MQRankSum=-9.510e-01;QD=0.21;ReadPosRankSum=1.99;SOR=0.673	GT:AD:DP:GQ:PL	0/1:346,27:373:92:92,0,14447	20	0	1	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:334,35,108,0:477:99:.:.:3531,3041,17039,0,12142,13152,4524,16921,13569,18308	0	0	4	1
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:337,81,57,0:475:99:.:.:2387,0,13907,1008,11757,14987,3401,14151,15158,17552	0	0	13	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2402.58	548	chr11	1017467	.	G	A,*	2402.58	.	AC=6,3;AF=0.200,0.100;AN=30;BaseQRankSum=2.71;DP=13253;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=7,4;MLEAF=0.233,0.133;MQ=56.65;MQRankSum=-5.514e+00;QD=0.40;ReadPosRankSum=0.240;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:431,46,0:477:99:.:.:634,0,17945,1932,18084,20015	6	0	6	6
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,134,0:478:99:0|1:1017440_C_T:4591,0,14041,5627,14445,20071:1017440	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:443,34,0:477:94:.:.:94,0,18499,1428,18601,20029	3	0	10	4
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,56,0:482:99:0|1:1017458_A_G:1069,0,17719,2351,17888,20239:1017458	1	0	13	2
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,121,0:481:99:0|1:1017440_C_T:3997,0,14752,5081,15116,20197:1017440	0	0	15	1
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:444,46,0:490:99:0|1:1017458_A_G:595,0,18505,1932,18643,20575:1017458	3	0	12	1
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21074.63	572	chr11	1017498	.	C	G,T,*	21074.63	.	AC=7,4,7;AF=0.194,0.111,0.194;AN=36;BaseQRankSum=-3.970e-01;DP=13422;ExcessHet=30.0624;FS=1.184;InbreedingCoeff=-0.8667;MLEAC=8,4,8;MLEAF=0.222,0.111,0.222;MQ=56.34;MQRankSum=-1.681e+01;QD=1.81;ReadPosRankSum=3.85;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:375,26,73,0:474:99:.:.:1875,2283,17457,0,14545,15843,3063,17621,16066,19139	0	0	7	3
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	2301.88	593	chr11	1017504	.	G	A,*	2301.88	.	AC=6,4;AF=0.176,0.118;AN=34;BaseQRankSum=3.07;DP=13147;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3958;MLEAC=7,5;MLEAF=0.206,0.147;MQ=56.93;MQRankSum=-1.066e+01;QD=0.38;ReadPosRankSum=-8.910e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:462,43,0:505:99:0|1:1017458_A_G:415,0,19118,1806,19248,21053:1017458	7	0	6	4
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:406,99,0:505:99:.:.:2400,0,16003,3622,16301,19922	0	0	15	2
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	9377.78	461	chr11	1017552	.	T	C,*	9377.78	.	AC=8,2;AF=0.235,0.059;AN=34;BaseQRankSum=-1.657e+00;DP=12232;ExcessHet=6.1002;FS=0.621;InbreedingCoeff=-0.4000;MLEAC=9,2;MLEAF=0.265,0.059;MQ=58.98;MQRankSum=1.86;QD=1.78;ReadPosRankSum=0.813;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:381,85,0:466:99:.:.:1099,0,11672,2242,11926,14167	7	0	8	4
chr11	1017596	1017596	T	0	exonic	MUC6	.	.	.	.	.	389	572	462	1	98	562	0.288557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3056	13853.16	475	chr11	1017596	.	T	G,*	13853.16	.	AC=9,2;AF=0.250,0.056;AN=36;BaseQRankSum=-3.120e-01;DP=12315;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4237;MLEAC=10,2;MLEAF=0.278,0.056;MQ=59.48;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.130;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:376,84,0:460:99:.:.:1465,0,12119,2595,12371,14966	7	0	9	3
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:420,91,0:511:99:.:.:1331,0,12414,2590,12686,15275	9	0	11	0
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:163,22,20:205:84:.:.:433,0,6778,84,6005,6868	5	0	15	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	1624.13	178	chr11	1018228	.	G	*,A	1624.13	.	AC=5,11;AF=0.119,0.262;AN=42;BaseQRankSum=2.18;DP=4019;ExcessHet=20.9642;FS=26.259;InbreedingCoeff=-0.6149;MLEAC=5,11;MLEAF=0.119,0.262;MQ=57.37;MQRankSum=-8.668e+00;QD=0.53;ReadPosRankSum=-1.860e+00;SOR=3.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:167,20,21:208:54:.:.:379,54,7174,0,6176,6938	5	0	5	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:236,16,31:283:99:.:.:591,630,10491,0,9238,9816	6	0	10	0
chr11	1092943	1092943	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.835	P	0.042	U	1.000	N	2.14	M	2.49	T	-1.051	T	0.107	T	0.11	0.404	6.192	3.03	1.722	0.794	9.717	0.074	0.345494250162	0.0008	0.000199681	0.0001	0.0014	8.706e-05	0	0	0	0	0.0001	0.0001229	19	154602	rs201613870	6.295e-05	6.293e-05	7.489e-05	5.09e-05	0.0015	5.229e-05	4.847e-05	0.0011	0.0010	0.0015	6.709e-05	0	5.038e-05	0	0	1.799e-05	0.0001	0.0001	0.0004	0.0004	0.0005	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	6.545e-05	0	0.0002	0	0	1.471e-05	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	2640.98	34	chr11	1092943	.	C	T	2640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=913;ExcessHet=0.0000;FS=1.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=1.65;SOR=0.808	GT:AD:DP:GQ:PL	0/1:101,107:208:99:2655,0,2341	20	0	1	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:10,193,0:203:99:1|1:1095948_C_G:7587,333,0,7617,579,7863:1095948	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,231,0,0:231:99:1|1:1095948_C_G:9148,692,0,9148,692,9148,9148,692,9148,9148:1095948	0	19	0	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:172,129,0:306:99:2912,0,11319,4575,12073,25307	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:172,129,0:306:99:.:.:2912,0,11319,4575,12073,25307	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:172,129,0:306:99:.:.:2912,0,11319,4575,12073,25307	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,131,0:411:99:0|1:1096164_CTA_*:4344,0,10445,5341,11519,19780:1096164	2	0	10	5
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:280,0,131:411:99:0|1:1096164_CTA_*:4344,5341,19780,0,11519,10445:1096164	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,131,0:411:99:0|1:1096164_CTA_*:4344,0,10445,5341,11519,19780:1096164	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,131,0:411:99:0|1:1096164_CTA_*:4344,0,10445,5341,11519,19780:1096164	1	0	11	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3281.3	481	chr11	1096211	.	A	*,C	3281.3	.	AC=11,2;AF=0.423,0.077;AN=26;BaseQRankSum=0.723;DP=9206;ExcessHet=15.1749;FS=0.000;InbreedingCoeff=-0.6204;MLEAC=15,3;MLEAF=0.577,0.115;MQ=57.49;MQRankSum=-5.247e+00;QD=0.68;ReadPosRankSum=2.33;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,131,0:411:99:0|1:1096164_CTA_*:4344,0,10445,5341,11519,19780:1096164	0	0	11	8
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:250,128,8:386:99:.:.:2906,0,10324,3601,6645,10939	0	0	8	11
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:250,128,8:386:99:.:.:2906,0,10324,3601,6645,10939	0	0	8	11
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,108,0:108:99:.:.:3406,324,0,3406,324,3406	0	19	0	0
chr11	1096897	1096897	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	3680.93	78	chr11	1096897	.	A	G,*	3680.93	.	AC=18,1;AF=0.600,0.033;AN=30;BaseQRankSum=1.84;DP=894;ExcessHet=0.0009;FS=56.653;InbreedingCoeff=0.4463;MLEAC=23,1;MLEAF=0.767,0.033;MQ=39.56;MQRankSum=-1.082e+00;QD=11.29;ReadPosRankSum=-7.730e-01;SOR=2.505	GT:AD:DP:GQ:PL	1/1:0,15,0:15:45:458,45,0,458,45,458	4	8	2	6
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN,	.	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	3629.07	88	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	3629.07	.	AC=6;AF=0.150;AN=40;BaseQRankSum=0.894;DP=4713;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=38.56;MQRankSum=1.03;QD=2.33;ReadPosRankSum=-3.810e+00;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,21:299:58:0|1:1097308_C_CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT:58,0,6066:1097308	14	0	6	1
chr11	1097377	1097377	T	0	exonic	MUC2	.	.	.	.	.	706	772	41	0	3	44	0.0258675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1225.14	90	chr11	1097377	.	T	C,*	1225.14	.	AC=6,1;AF=0.273,0.045;AN=22;BaseQRankSum=2.86;DP=2345;ExcessHet=2.5830;FS=30.158;InbreedingCoeff=-0.4001;MLEAC=9,2;MLEAF=0.409,0.091;MQ=29.98;MQRankSum=-1.032e+00;QD=2.03;ReadPosRankSum=-2.380e-01;SOR=2.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,23,0:102:99:1|0:1097308_C_CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT:206,0,2207,442,2273,2716:1097308	4	0	6	10
chr11	1098518	1098518	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	861	3	0	0	3	0.00173913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315730742	0.0008	0.0016	0.0008	0.0008	0.0040	0.0008	0.0007	0.0032	0.0030	0.0014	0.0004	0.0012	0.0040	0.0019	0.0003	0.0007	0.0011	0.0004	0.0007	0.0012	0.0006	0.0007	0.0050	0.0004	0.0003	0.0005	0.0004	0.0004	0	0	0	0	0	0	0.0012	0	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.125	2125.72	120	chr11	1098518	.	C	T	2125.72	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.266e+00;DP=3397;ExcessHet=0.6776;FS=8.269;InbreedingCoeff=-0.1833;MLEAC=5;MLEAF=0.156;MQ=45.75;MQRankSum=1.12;QD=3.03;ReadPosRankSum=-3.120e+00;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,36:230:99:0|1:1098518_C_T:502,0,7705:1098518	12	0	4	5
chr11	1098538	1098538	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	674	844	4	0	0	4	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169334096	0.0032	0.0055	0.0033	0.0031	0.0031	0.0031	0.0030	0.0030	0.0029	0.0010	0.0019	0.0052	0.0011	0.0223	0.0025	0.0031	0.0044	0.0012	0.0150	0.0054	0.0122	0.0179	0.0232	0.0120	0.0110	0.0178	0.0159	0.0027	0	0.0049	0.0104	0.0053	0.0249	0.1000	0.0232	0.0323	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2083	2025.55	120	chr11	1098538	.	T	C	2025.55	.	AC=5;AF=0.208;AN=24;BaseQRankSum=2.06;DP=3920;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.2947;MLEAC=7;MLEAF=0.292;MQ=45.13;MQRankSum=-5.024e+00;QD=2.34;ReadPosRankSum=-1.951e+00;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,24:228:99:0|1:1098518_C_T:334,0,8417:1098518	7	0	5	9
chr11	1098544	1098544	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	862	2	0	0	2	0.00115875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448886114	7.358e-05	0.0003	6.518e-05	8.21e-05	0.0008	6.06e-05	5.573e-05	0.0005	0.0004	8.331e-05	9.522e-05	4.776e-05	0.0008	0.0002	0.0002	5.216e-05	0.0002	0	0	9.614e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1	776.3	120	chr11	1098544	.	C	A	776.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.96;DP=3953;ExcessHet=0.6776;FS=10.427;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=45.11;MQRankSum=-4.687e+00;QD=1.17;ReadPosRankSum=-1.717e+00;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,20:228:99:0|1:1098518_C_T:185,0,8607:1098518	16	0	4	1
chr11	1098548	1098548	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	860	4	0	0	4	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371567749	0.0016	0.0017	0.0017	0.0015	0.0531	0.0015	0.0015	0.0504	0.0493	0.0531	0.0022	0.0001	0.0015	0.0006	0.0033	0.0002	0.0039	0.0001	0.0048	0.0059	0.0048	0.0048	0.0239	0.0040	0.0037	0.0198	0.0183	0.0239	0	0.0014	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1053	678.77	120	chr11	1098548	.	C	T	678.77	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.80;DP=3975;ExcessHet=0.6776;FS=8.640;InbreedingCoeff=-0.1351;MLEAC=4;MLEAF=0.105;MQ=44.89;MQRankSum=-4.819e+00;QD=1.05;ReadPosRankSum=-7.590e-01;SOR=1.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,20:228:99:0|1:1098518_C_T:164,0,8590:1098518	15	0	4	2
chr11	1098781	1098781	C	0	exonic	MUC2	.	.	.	.	.	634	850	36	0	2	38	0.0207373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	3468.15	182	chr11	1098781	.	C	T,*	3468.15	.	AC=7,2;AF=0.206,0.059;AN=34;BaseQRankSum=5.51;DP=3838;ExcessHet=4.7172;FS=16.398;InbreedingCoeff=-0.3588;MLEAC=8,2;MLEAF=0.235,0.059;MQ=37.99;MQRankSum=1.81;QD=2.74;ReadPosRankSum=6.000e-03;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,21,0:137:99:0|1:1098716_A_G:513,0,4685,862,4749,5610:1098716	8	0	7	4
chr11	1098794	1098794	C	0	exonic	MUC2	.	.	.	.	.	660	820	40	0	2	42	0.0238095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	2288.8	166	chr11	1098794	.	C	T,*	2288.8	.	AC=8,2;AF=0.222,0.056;AN=36;BaseQRankSum=4.68;DP=3810;ExcessHet=6.1002;FS=15.276;InbreedingCoeff=-0.3771;MLEAC=9,2;MLEAF=0.250,0.056;MQ=37.26;MQRankSum=1.73;QD=1.52;ReadPosRankSum=-1.122e+00;SOR=1.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,16,0:137:99:0|1:1098716_A_G:308,0,4938,672,4986,5658:1098716	8	0	8	3
chr11	1098812	1098812	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1962.92	133	chr11	1098812	.	C	A,*	1962.92	.	AC=9,3;AF=0.250,0.083;AN=36;BaseQRankSum=2.08;DP=3561;ExcessHet=9.6308;FS=3.400;InbreedingCoeff=-0.4724;MLEAC=10,3;MLEAF=0.278,0.083;MQ=36.45;MQRankSum=0.209;QD=1.00;ReadPosRankSum=-2.579e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,11,0:132:98:0|1:1098716_A_G:98,0,4997,462,5030,5492:1098716	6	0	9	3
chr11	1098813	1098813	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1884.38	133	chr11	1098813	.	C	*,T	1884.38	.	AC=3,9;AF=0.083,0.250;AN=36;BaseQRankSum=2.50;DP=3551;ExcessHet=9.6308;FS=3.047;InbreedingCoeff=-0.4710;MLEAC=3,10;MLEAF=0.083,0.278;MQ=36.42;MQRankSum=-1.580e-01;QD=0.91;ReadPosRankSum=-2.579e+00;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:121,0,11:132:98:0|1:1098716_A_G:98,462,5479,0,5017,4984:1098716	6	0	3	3
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:253,0,40,0:293:99:0|1:1099366_TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC_T:840,1669,13777,0,10539,10061,1669,13777,10539,13777:1099366	3	2	3	8
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,102,191:293:99:.:.:7829,2700,2128,3352,0,3993	0	15	0	0
chr11	1185059	1185059	G	0	exonic	MUC5AC	.	.	.	.	.	444	914	43	0	121	164	0.0229824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	12884.83	715	chr11	1185059	.	G	A,*	12884.83	.	AC=3,6;AF=0.094,0.188;AN=32;BaseQRankSum=5.90;DP=14044;ExcessHet=4.7172;FS=6.096;InbreedingCoeff=-0.3770;MLEAC=4,7;MLEAF=0.125,0.219;MQ=58.38;MQRankSum=-1.742e+01;QD=2.15;ReadPosRankSum=-2.445e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:627,162,0:789:99:0|1:1185018_A_C:4915,0,25840,6802,26328,33130:1185018	7	0	3	5
chr11	1191642	1191642	T	0	exonic	MUC5AC	.	.	.	.	.	504	823	191	3	1	198	0.106891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	9561.57	753	chr11	1191642	.	T	*,A	9561.57	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=0.214;DP=11227;ExcessHet=0.0082;FS=1.736;InbreedingCoeff=0.3778;MLEAC=3,1;MLEAF=0.075,0.025;MQ=53.89;MQRankSum=1.86;QD=5.67;ReadPosRankSum=0.701;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:6,173,349:534:99:.:.:19109,9578,14133,7470,0,6896	17	0	2	1
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,58,0:169:99:.:.:1713,0,4095,2047,4272,6319	3	3	5	0
chr11	2587620	2587620	G	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon9:c.G1179T:p.K393N	Atrial fibrillation, familial, 3, Autosomal dominant;Jervell and Lange-Nielsen syndrome, Autosomal recessive;Long QT syndrome 1, Autosomal dominant;Short QT syndrome 2, Autosomal dominant	YES	1	1497	22	2	0	26	0.00860927	.	.	77916	Cardiovascular_phenotype|Cardiac_arrhythmia|Long_QT_syndrome_1|Congenital_long_QT_syndrome|not_specified|not_provided|Short_QT_syndrome_type_2|Atrial_fibrillation,_familial,_3|Jervell_and_Lange-Nielsen_syndrome_1|Long_QT_syndrome|Cardiomyopathy	MedGen:CN230736|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012313,MedGen:C1865019,OMIM:609621,Orphanet:51083|MONDO:MONDO:0011857,MedGen:C1837014,OMIM:607554|MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.77	P	0.5	P	0.000	N	0.991	D	1.82	L	-5.74	D	0.849	D	0.939	D	0.514	0.472	6.560	0.592	0.157	0.373	4.895	0.554	0.267829732212	0.0007	0.000599042	0.0011	0.0003	0.0014	0	0.0008	0.0012	0.0022	0.0015	0.0010349	160	154602	rs12720457	0.0008	0.0008	0.0007	0.0009	0.0080	0.0008	0.0007	0.0061	0.0055	0.0007	0.0015	0.0025	0	0.0006	0.0080	0.0006	0.0012	0.0017	0.0006	0.0006	0.0005	0.0007	0.0015	0.0005	0.0005	0.0007	0.0005	0.0001	0	0.0009	0.0020	0	0.0006	0.0068	0.0007	0.0005	0.0015	0.174	0.22486	T	0.193	0.31833	T	0.77	0.43887	P	0.5	0.47649	P	0.000000	0.84330	N	0.049620	0.983504	0.41186	D	2.16	0.60381	M	-5.83	0.99392	D	-2.25	0.50337	N	0.805	0.80083	0.849	0.95010	D	0.939	0.98006	D	10	0.026480198	0.00813	T	0.26783	0.89762	D	0.554	0.81601	0.823	0.93527	0.904958230561	0.90401	0.8615672957541449	0.86120	0.440487623201	0.44055	0.651963949203	0.60264	T	0.764798	0.93657	D	-0.141053	0.29723	T	0.00559607	0.70698	D	0.0175471631554296	0.00488	T	0.80302	0.45008	T	0.41296875	0.61620	0.15783057	0.36887	0.4878025	0.66372	0.21849662	0.46553	-8.727	0.65923	D	0.3174439766005681	0.41551	0.422	0.60751	A	.;.;.	.;.;.	3.121519	0.42144	21.5	0.96064174600266095	0.28602	0.78620	0.38816	D	AEFDBI	0.278446	0.39273	N	-0.597937330864264	0.19007	0.9914156	-0.593143438029263	0.19671	1.056447	0.00633602430930672	0.11191	0.676563	0.55306	0	0.588015	0.36545	0	0.673471	0.61138	0	0.613276	0.41899	0	.	.	4.72	0.592	0.16654	0.568000	0.23326	0.435000	0.18365	-0.633000	0.04490	1.000000	0.71638	0.982000	0.30508	0.229000	0.22707	0.3486:0.1533:0.4981:0.0	4.895	0.13100	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1623.98	34	chr11	2587620	.	G	T	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.270e-01;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-6.420e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:78,70:148:99:1638,0,1919	20	0	1	0
chr11	2884861	2884866	GGGGCC	-	exonic	CDKN1C	.	nonframeshift deletion	CDKN1C:NM_000076:exon1:c.624_629del:p.A215_P216del	Beckwith-Wiedemann syndrome, Autosomal dominant;IMAGE syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	241103	Beckwith-Wiedemann_syndrome|IMAGe_syndrome|not_provided|not_specified	MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116|MONDO:MONDO:0013873,MedGen:C1846009,OMIM:614732,Orphanet:85173|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010373	27	26028	rs878853639	0.0007	0.0009	0.0007	0.0007	0.0143	0.0007	0.0007	0.0113	0.0103	0.0011	0.0143	0	0	0.0002	0.0038	0.0006	0.0011	0.0020	0.0064	0.0063	0.0059	0.0069	0.0411	0.0060	0.0059	0.0383	0.0373	0.0044	0	0.0411	0	0.0002	0.0002	0.0072	0.0016	0.0094	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	68.02	20	chr11	2884860	.	GGGGGCC	G	68.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.670e-01;DP=416;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.67;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:35:82,0,35	20	0	1	0
chr11	3659926	3659926	G	A	exonic	ART1	.	nonsynonymous SNV	ART1:NM_004314:exon3:c.G407A:p.R136H,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.98	D	0.000	D	0.996	D	3.055	M	2.54	T	-0.847	T	0.137	T	0.809	3.672	18.66	5.53	2.603	6.079	16.956	0.321	0.0357088248972	0.0018	0.000399361	0.0014	0.0007	0.0003	0	0.0003	0.0023	0.0023	0.0001	0.0015394	238	154602	rs148703944	0.0023	0.0023	0.0022	0.0023	0.0045	0.0022	0.0022	0.0032	0.0027	0.0004	0.0004	3.835e-05	2.519e-05	0.0002	0.0045	0.0028	0.0018	0.0001	0.0016	0.0016	0.0018	0.0014	0.0031	0.0014	0.0014	0.0028	0.0026	0.0004	0.0055	0.0004	0	0.0002	9.411e-05	0	0.0031	0.0005	0.0004	0.009	0.57480	D	0.05	0.48080	T	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.050604	0.996494	0.43237	D	3.795	0.95366	H	2.54	0.13916	T	-4.23	0.75935	D	0.587	0.60749	-0.8467	0.52195	T	0.137	0.45318	T	9	0.045660466	0.03662	T	0.035709	0.56521	D	0.321	0.64318	.	.	0.605204069629	0.60204	0.6300160545473981	0.62935	0.212149430145	0.23708	0.639756917953	0.58530	T	0.264225	0.63597	T	-0.206759	0.19837	T	-0.0740751	0.65335	T	0.358116000890732	0.27336	T	0.90471	0.66491	D	0.73395777	0.79948	0.69287777	0.81923	0.73395777	0.79949	0.69287777	0.81924	-6.202	0.47939	T	.	.	0.256	0.49088	B	.	.	4.700664	0.75409	26.3	0.9994936026841188	0.99931	0.97869	0.77741	D	AEFDBI	0.638268	0.61675	D	0.694982188454827	0.79302	7.049448	0.61171541755448	0.75790	6.373188	0.999999984088445	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	4.129000	0.57713	11.819000	0.97178	0.618000	0.50648	0.993000	0.37899	1.000000	0.68203	0.090000	0.17789	0.0:0.0:1.0:0.0	16.956	0.86130	808	0.43318	.	.	.	.	.	.	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	0.02381	2520.98	98	chr11	3659926	.	G	A	2520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.561e+00;DP=1373;ExcessHet=0.0000;FS=1.110;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=1.00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:93,103:196:99:2535,0,2424	20	0	1	0
chr11	5489547	5489547	G	A	exonic	OR52D1	.	nonsynonymous SNV	OR52D1:NM_001005163:exon1:c.G841A:p.A281T,	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.69	M	8.66	T	-0.800	T	0.002	T	0.215	3.903	19.85	4.67	1.600	3.320	13.43	0.251	0.00711082758734	.	.	8.25e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs780455004	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000004	0.62929	D	0.000000	1	0.81001	D	2.72	0.79541	M	8.66	0.00139	T	-3.79	0.71639	D	0.166	0.17553	-0.7998	0.55156	T	0.002	0.00526	T	10	0.37731084	0.53929	T	0.007111	0.18841	T	0.251	0.56024	0.642	0.77903	0.305730143919	0.30178	0.1498105945690951	0.14903	0.0165560097455	0.01597	0.387519180775	0.23320	T	0.012121	0.10705	T	-0.177165	0.24159	T	-0.492262	0.23155	T	0.99024498462677	0.80461	D	0.818818	0.47619	T	0.7569237	0.81272	0.7509594	0.85279	0.7569237	0.81273	0.7509594	0.85280	-9.819	0.72821	D	.	.	0.548	0.66687	A	.	.	4.893662	0.80374	27.3	0.99925242222338917	0.99042	0.92355	0.55520	D	AEFGBHCI	0.151340	0.27581	N	0.685314936935146	0.78670	6.918579	0.623533475095708	0.76652	6.530744	0.999998342259737	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	4.67	0.58089	2.957000	0.48830	.	.	0.676000	0.76740	0.994000	0.38300	0.266000	0.24016	0.985000	0.61073	0.0756:0.0:0.9244:0.0	13.43	0.60498	696	0.58299	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2041.98	51	chr11	5489547	.	G	A	2041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.761e+00;DP=1254;ExcessHet=0.0000;FS=2.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=0.084;SOR=0.537	GT:AD:DP:GQ:PL	0/1:113,91:204:99:2056,0,2888	20	0	1	0
chr11	5821056	5821056	A	T	exonic	OR52N2	.	nonsynonymous SNV	OR52N2:NM_001005174:exon1:c.A721T:p.S241C,	.	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.981	D	0.000	D	1.000	N	3.705	H	8.14	T	-1.032	T	0.003	T	0.543	2.073	12.89	4.98	1.123	0.344	11.339	0.227	0.00807553447473	.	.	2.473e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs773060844	1.432e-05	1.431e-05	1.048e-05	1.752e-05	0.0001	6.73e-06	4.88e-06	4.657e-05	3.27e-05	0	0	0	0	0	0	0	6.043e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.997	0.70673	D	0.981	0.75168	D	0.000154	0.49130	D	0.090248	1	0.81001	D	3.95	0.96445	H	8.14	0.00289	T	-4.41	0.77391	D	0.352	0.39356	-1.0324	0.19681	T	0.003	0.01059	T	10	0.3594401	0.52612	T	0.008076	0.21418	T	0.227	0.52620	0.541	0.65304	0.672407775526	0.66963	0.11696291788169651	0.11624	0.385636752576	0.39853	0.217149525881	0.01152	T	0.003885	0.03292	T	-0.26177	0.12695	T	-0.377122	0.36058	T	0.962838172912598	0.66483	D	0.910509	0.68253	D	0.77229416	0.82186	0.5348432	0.73121	0.77229416	0.82187	0.5348432	0.73121	-7.982	0.60948	D	.	.	0.169	0.37121	B	.	.	2.878286	0.38083	20.7	0.98392064248216971	0.40968	0.46751	0.27829	N	AEFGBI	0.264991	0.38221	N	0.352604315754097	0.58876	4.062773	0.169542326854777	0.48186	3.038038	0.0323633019156235	0.14051	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.11	4.98	0.65679	-0.239000	0.08983	.	.	-0.064000	0.16601	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.9287:0.0:0.0713:0.0	11.339	0.48761	675	0.60470	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3171.98	153	chr11	5821056	.	A	T	3171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.069e+00;DP=3000;ExcessHet=0.0000;FS=1.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=-1.823e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/1:97,120:217:99:3186,0,2693	20	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.689	P	0.034	N	0.570	D	4.255	H	-0.08	T	0.418	D	0.499	T	0.685	1.906	12.33	3.23	0.271	3.583	13.827	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1980.01	154	chr11	6200107	.	C	G	1980.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.829e+00;DP=2478;ExcessHet=4.7172;FS=120.687;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=1.61;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,23:161:99:0|1:6200107_C_G:220,0,5285:6200107	12	0	9	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.911	P	0.158	B	0.004	N	0.906	D	1.675	L	1.07	T	-0.977	T	0.081	T	0.099	1.942	12.45	5.11	2.518	-0.072	13.517	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2170.01	155	chr11	6200109	.	C	G	2170.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.569e+00;DP=2452;ExcessHet=4.7172;FS=131.986;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=1.54;SOR=11.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,23:160:99:.:.:223,0,5240	12	0	9	0
chr11	6390704	6390704	G	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	43	1200	222	19	38	298	0.0977444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2978.5	52	chr11	6390704	.	G	GCGC,*	2978.5	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=0.024;DP=1009;ExcessHet=0.0409;FS=0.508;InbreedingCoeff=0.3189;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.059;SOR=0.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:34,0,30:64:99:0|1:6390700_CCTGGTGCTGGCG_C:1069,1172,2588,0,1417,1322:6390700	17	0	2	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,31,0,30,0,0:61:99:1|0:6390700_CCTGGTGCTGGCG_C:2715,1233,1071,2513,1235,2636,1022,0,1255,1292,2513,1235,2636,1255,2636,2513,1235,2636,1255,2636,2636:6390700	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,31,0,30,0,0:61:99:1|0:6390700_CCTGGTGCTGGCG_C:2715,1233,1071,2513,1235,2636,1022,0,1255,1292,2513,1235,2636,1255,2636,2513,1235,2636,1255,2636,2636:6390700	0	5	0	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.922	P	0.583	P	.	.	1.000	N	0.895	L	-0.82	T	-0.736	T	0.305	T	0.179	1.460	10.83	4.27	2.202	2.147	12.045	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	723.45	41	chr11	6564079	.	G	C	723.45	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.656e+00;DP=1725;ExcessHet=6.1002;FS=193.467;InbreedingCoeff=-0.4201;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.74;SOR=11.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,19:79:79:.:.:79,0,977	7	0	10	4
chr11	7666504	7666504	C	T	exonic	CYB5R2	.	nonsynonymous SNV	CYB5R2:NM_001302827:exon7:c.G601A:p.G201R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.105	N	1.000	N	-0.2	N	-1.96	D	-0.774	T	0.177	T	0.144	-0.942	0.356	-5.02	-0.785	-0.691	2.438	0.148	0.0259501489009	0.0002	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs139640867	5.885e-05	6.088e-05	6.4e-05	5.365e-05	7.377e-05	4.878e-05	4.498e-05	6.061e-05	5.57e-05	0	0	0	0	0	0	7.377e-05	3.312e-05	2.319e-05	5.258e-05	5.253e-05	7.71e-05	2.691e-05	0.0001	2.558e-05	1.831e-05	5.842e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.105461	0.19658	N	0.576442	1	0.08975	N	-0.84	0.01504	N	-1.96	0.85091	D	0.46	0.03140	N	0.131	0.12627	-0.7741	0.56631	T	0.177	0.52272	T	10	0.023643106	0.00625	T	0.02595	0.48891	D	0.148	0.39182	.	.	0.430923071578	0.42714	0.5369725146401934	0.53622	0.00655855936216	0.00574	0.224274039268	0.01571	T	0.032446	0.22488	T	-0.226912	0.17060	T	-0.466866	0.25853	T	0.0224188062577273	0.00956	T	0.661134	0.28519	T	0.05722203	0.11359	0.03636597	0.03068	0.05722203	0.11359	0.03636597	0.03068	-3.5	0.16431	T	.	.	0.097	0.15698	B	.;.;.	.;.;.	0.147810	0.05405	1.882	0.54134606940262286	0.05077	0.06403	0.12406	N	AEFDGBCI	0.087962	0.17834	N	-1.65826300454034	0.01001	0.04338034	-1.62316453384377	0.01520	0.06884785	0.999982619486172	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.69	-5.02	0.02759	-0.698000	0.05194	-0.619000	0.08183	-0.974000	0.01926	0.000000	0.06391	0.000000	0.08366	0.768000	0.36443	0.1174:0.1585:0.2454:0.4786	2.438	0.04213	692	0.58729	.;Oxidoreductase FAD/NAD(P)-binding;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	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	0.02381	571.98	40	chr11	7666504	.	C	T	571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.270e-01;DP=885;ExcessHet=0.0000;FS=0.952;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.94;ReadPosRankSum=0.680;SOR=0.862	GT:AD:DP:GQ:PL	0/1:37,27:64:99:586,0,978	20	0	1	0
chr11	7695098	7695098	C	T	exonic	OVCH2	.	nonsynonymous SNV	OVCH2:NM_198185:exon12:c.G1373A:p.C458Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	0.847	N	3.165	M	-0.2	T	-0.117	T	0.488	T	0.884	2.509	14.35	4.65	1.341	3.059	12.077	0.489	0.0417392351103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.144e-07	6.84e-07	0	1.448e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.721e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000125	0.49741	D	0.000000	0.847248	0.28547	N	.	.	.	.	.	.	.	.	.	0.826	0.82257	-0.1169	0.79707	T	0.488	0.80525	T	10	0.98016715	0.97975	D	0.041739	0.60088	D	.	.	0.932	0.98960	0.0482279557977	0.04254	0.9083998572990325	0.90812	.	.	0.649084091187	0.59856	T	0.33728	0.70668	T	0.532843	0.95214	D	0.527615	0.95143	D	0.993654370307922	0.84541	D	0.60384	0.22664	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.73738	P	.;.	.;.	4.199292	0.63353	24.6	0.99665834793981545	0.78266	0.77299	0.37990	D	AEFGBCI	0.265966	0.38298	N	0.622444429617222	0.74596	6.159618	0.521213156552058	0.69418	5.35777	0.999017102160765	0.38212	0.049104	0.00279	0	0.068659	0.01829	0	0.067067	0.01885	0	0.060263	0.01266	0	.	.	5.56	4.65	0.57626	3.372000	0.52115	3.851000	0.40089	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.0:0.9165:0.0:0.0835	12.077	0.52945	801	0.44448	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1346.98	33	chr11	7695098	.	C	T	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=0.908;SOR=0.732	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1361,0,1381	20	0	1	0
chr11	10559867	10559867	G	C	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731G:p.A244G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.62	T	-0.348	T	0.350	T	0.535	4.797	27.1	5.44	2.570	5.738	18.043	0.279	0.035680634441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0001	9.22e-05	8.745e-05	0.0001	0.0001	3.018e-05	0	3.84e-05	0	0	0	0.0001	8.361e-05	3.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999976	0.53665	D	1.995	0.54099	M	2.62	0.57100	T	-2.2	0.74051	N	0.656	0.78072	-0.3484	0.73600	T	0.350	0.71439	T	10	0.7359656	0.74622	D	0.035681	0.56501	D	0.279	0.59619	0.486	0.56939	0.740229456086	0.73790	0.4308752596838396	0.43004	0.43936280621	0.43965	0.555330634117	0.46608	T	0.738373	0.92733	D	0.027231	0.55354	T	-0.198661	0.54773	T	0.952442526817322	0.63793	D	0.80142	0.48765	T	0.3713057	0.58681	0.47502097	0.69577	0.3713057	0.58681	0.47502097	0.69577	-3.975	0.23428	T	.	.	0.29	0.61572	B	.;.	.;.	4.798394	0.77943	26.8	0.99798832104841995	0.88372	0.95259	0.64030	D	AEFI	0.868902	0.78922	D	0.791556132315038	0.85574	8.616862	0.766818552650126	0.87408	9.211633	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,21,0:89:88:.:.:88,0,1208,276,1265,1541	8	0	1	6
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.74	T	-0.451	T	0.344	T	0.724	4.500	24.2	5.44	2.570	5.738	18.043	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,21,0:89:88:.:.:88,0,1208,276,1265,1541	8	0	1	6
chr11	11352525	11352525	C	T	exonic	CSNK2A3	.	nonsynonymous SNV	CSNK2A3:NM_001256686:exon1:c.G595A:p.G199S,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00132433481902	.	.	0.0004	0	0.0003	0	0	0.0007	0.0011	0	0.0003558	55	154602	rs750849569	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	2.987e-05	0.0004	0.0021	0	3.744e-05	0.0002	0.0003	0.0004	8.115e-05	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0005	0.0004	0	0	0.0008	0.0012	0	9.427e-05	0	0.0005	0.0005	0	.	.	.	0.246	0.23984	T	0.999	0.77913	D	0.96	0.70309	D	.	.	.	.	1	0.81001	D	-0.755	0.01709	N	3.56	0.04696	T	.	.	.	0.447	0.48504	.	.	.	.	.	.	.	0.037035614	0.02035	T	0.001324	0.01860	T	.	.	.	.	0.110078149338	0.10416	0.8406291401754424	0.84022	0.417033127101	0.42332	0.776923120022	0.78464	T	0.036269	0.24038	T	-0.308713	0.07861	T	-0.336283	0.40766	T	.	.	.	0.979335	0.92822	D	0.039138928	0.05346	0.17392555	0.39753	0.039138928	0.05346	0.17392555	0.39752	-13.269	0.90440	D	.	.	0.294	0.52516	B	.	.	2.045820	0.26006	16.97	0.75720115557879508	0.11184	0.40655	0.26485	N	AEFGBI	0.156787	0.28220	N	.	.	.	.	.	.	0.999064217174757	0.38343	0.294411	0.05044	0	0.332522	0.05826	0	0.292756	0.05521	0	0.330827	0.05736	0	.	.	1.68	-0.59	0.11093	4.073000	0.57290	3.912000	0.40415	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.5928:0.2385:0.1687	4.426	0.10931	940	0.13648	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5875.98	274	chr11	11352525	.	C	T	5875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=6338;ExcessHet=0.0000;FS=2.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=-1.427e+00;SOR=0.637	GT:AD:DP:GQ:PL	0/1:191,217:408:99:5890,0,4957	20	0	1	0
chr11	12293628	12293628	G	A	exonic	MICALCL	.	nonsynonymous SNV	MICALCL:NM_032867:exon3:c.G197A:p.R66Q,	.	.	437	1018	62	5	0	72	0.0341556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.0	B	0.530	N	1.000	N	-0.55	N	3.36	T	-0.917	T	0.003	T	0.056	1.156	9.708	-3.9	-0.778	-0.015	7.360	0.007	.	0.0046	0.00998403	0.0073	0.0015	0.0062	0.0242	0.0038	0.0056	0.0056	0.0110	0.0066558	1029	154602	rs148792670	0.0062	0.0062	0.0060	0.0064	0.0217	0.0061	0.0060	0.0186	0.0179	0.0008	0.0049	0.0054	0.0195	0.0027	0.0217	0.0056	0.0083	0.0099	0.0051	0.0052	0.0051	0.0052	0.0231	0.0048	0.0047	0.0197	0.0184	0.0010	0.0044	0.0056	0.0061	0.0231	0.0027	0.0170	0.0061	0.0071	0.0102	0.673	0.04521	T	0.502	0.11115	T	.	.	.	.	.	.	0.530288	0.11646	N	0.701301	1	0.08975	N	.	.	.	3.36	0.05918	T	0.25	0.04456	N	0.03	0.00717	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0025303662	0.00038	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	.	.	0.0162568994873	0.01562	0.216049045324	0.01094	T	.	.	.	-0.742639	0.00020	T	-0.818576	0.01482	T	0.00101569959699687	0.00010	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18622	B	.;.	.;.	0.231460	0.06126	2.572	0.78592888275697237	0.12368	0.01101	0.04040	N	AEFDBI	0.030233	0.03004	N	-1.85835775263321	0.00417	0.0179525	-1.81897311249413	0.00700	0.03118622	0.955462753322834	0.28190	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	-3.9	0.03904	0.079000	0.14636	1.571000	0.27417	-0.763000	0.03499	0.079000	0.22314	0.968000	0.29604	0.003000	0.05239	0.3934:0.0:0.4217:0.1849	7.360	0.25913	906	0.23090	.;.	.	.	.	.	rs148792670	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6833.68	34	chr11	12293628	.	G	A	6833.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.46;DP=1205;ExcessHet=0.3300;FS=0.523;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.135;SOR=0.761	GT:AD:DP:GQ:PL	0/1:115,95:210:99:2253,0,2515	18	0	3	0
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:2,34,0,29,0,0,0:65:99:.:.:2492,1015,932,2413,1076,2455,1218,0,1301,1208,2413,1076,2455,1301,2455,2413,1076,2455,1301,2455,2455,2413,1076,2455,1301,2455,2455,2455	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:2,34,0,29,0,0,0:65:99:.:.:2492,1015,932,2413,1076,2455,1218,0,1301,1208,2413,1076,2455,1301,2455,2413,1076,2455,1301,2455,2455,2413,1076,2455,1301,2455,2455,2455	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:2,34,0,29,0,0,0:65:99:.:.:2492,1015,932,2413,1076,2455,1218,0,1301,1208,2413,1076,2455,1301,2455,2413,1076,2455,1301,2455,2455,2413,1076,2455,1301,2455,2455,2455	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:2,34,0,29,0,0,0:65:99:.:.:2492,1015,932,2413,1076,2455,1218,0,1301,1208,2413,1076,2455,1301,2455,2413,1076,2455,1301,2455,2455,2413,1076,2455,1301,2455,2455,2455	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:2,34,0,29,0,0,0:65:99:.:.:2492,1015,932,2413,1076,2455,1218,0,1301,1208,2413,1076,2455,1301,2455,2413,1076,2455,1301,2455,2455,2413,1076,2455,1301,2455,2455,2455	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:2,34,0,29,0,0,0:65:99:.:.:2492,1015,932,2413,1076,2455,1218,0,1301,1208,2413,1076,2455,1301,2455,2413,1076,2455,1301,2455,2455,2413,1076,2455,1301,2455,2455,2455	6	0	4	0
chr11	16803052	16803052	C	T	exonic	PLEKHA7	.	nonsynonymous SNV	PLEKHA7:NM_001329630:exon15:c.G2077A:p.V693I	.	.	426	1051	45	0	0	45	0.0209595	0.9991	0.924	712742	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.995	D	0.867	P	0.000	D	1.000	D	2.215	M	1.41	T	-0.980	T	0.075	T	0.497	5.112	32	5.84	2.768	7.272	19.738	0.205	.	0.0057	0.0061901	0.0068	0.0010	0.0043	0	0.0005	0.0093	0.0132	0.0081	0.006811	1053	154602	rs34556458	0.0072	0.0072	0.0070	0.0074	0.0158	0.0071	0.0070	0.0132	0.0122	0.0010	0.0073	0.0137	0	0.0008	0.0158	0.0075	0.0093	0.0093	0.0062	0.0062	0.0065	0.0060	0.0144	0.0059	0.0058	0.0128	0.0122	0.0012	0.0318	0.0144	0.0182	0	0.0003	0.0068	0.0079	0.0080	0.0056	0.145	0.26629	T	0.02	0.60337	D	0.993	0.65571	D	0.867	0.61644	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.495	0.72670	M	1.41	0.33412	T	-0.91	0.24898	N	0.573	0.61002	-0.9799	0.35025	T	0.075	0.30179	T	10	0.008751154	0.00198	T	0.020689	0.43334	T	0.205	0.49236	.	.	0.518312163451	0.51475	0.1348328318978361	0.13407	0.382416266666	0.39573	0.5265879035	0.42554	T	0.101757	0.45820	T	-0.364331	0.03891	T	-0.289715	0.45803	T	0.0326651706824307	0.02415	T	0.948705	0.84924	D	0.1497537	0.34125	0.12526728	0.30185	0.1497537	0.34125	0.12526728	0.30185	-10.164	0.74887	D	.	.	0.122	0.33619	B	.;.;.;.	.;.;.;.	5.222615	0.87654	29.3	0.99881861977095354	0.95813	0.98095	0.79555	D	AEFBI	0.910331	0.86811	D	0.732525050951995	0.81765	7.599305	0.760500743838028	0.86941	9.053152	0.99999999999915	0.74766	0.661447	0.50134	0	0.610034	0.51514	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.84	5.84	0.93373	7.568000	0.81546	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.738	0.96210	566	0.70798	.;.;.;.	.	.	.	.	.	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	0.02381	595.98	35	chr11	16803052	.	C	T	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.040;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.45;ReadPosRankSum=-1.115e+00;SOR=0.663	GT:AD:DP:GQ:PL	0/1:52,28:80:99:610,0,1356	20	0	1	0
chr11	18006653	18006653	G	C	exonic	SERGEF	.	nonsynonymous SNV	SERGEF:NM_012139:exon3:c.C290G:p.S97C,	.	.	428	1076	18	0	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.706	P	0.282	N	1.000	D	1.555	L	-1.44	T	-0.035	T	0.507	D	0.546	3.575	18.22	5.15	1.555	1.459	12.467	0.520	0.045683071934	0.0002	0.000599042	0.0010	0	0.0002	0	0	8.995e-05	0.0033	0.0069	0.0008344	129	154602	rs368889802	0.0005	0.0005	0.0003	0.0007	0.0069	0.0004	0.0004	0.0065	0.0063	0	2.236e-05	0	0	0	0.0010	4.676e-05	0.0006	0.0069	0.0002	0.0002	6.425e-05	0.0003	0.0046	0.0001	9.698e-05	0.0031	0.0026	0	0	0	0	0	0	0	4.41e-05	0	0.0046	0.194	0.21968	T	0.176	0.30926	T	0.995	0.67487	D	0.706	0.54345	P	0.282201	0.14924	N	0.703897	1	0.81001	D	2.36	0.67893	M	-1.44	0.80815	T	-1.82	0.42957	N	0.497	0.53006	-0.0353	0.81519	T	0.507	0.81464	D	10	0.011652917	0.00254	T	0.045683	0.62099	D	0.520	0.79583	.	.	0.821898614301	0.82022	0.5395635485454993	0.53881	0.585799155642	0.54207	0.382282555103	0.22581	T	0.281386	0.65411	T	-0.262316	0.12630	T	-0.14529	0.59658	T	0.0920561014578816	0.11459	T	0.773923	0.40554	T	0.11058673	0.26138	0.08389478	0.19260	0.11058673	0.26138	0.08389478	0.19260	-8.945	0.67342	D	.	.	0.089	0.21049	B	.;.	.;.	3.910147	0.57021	23.8	0.98182282533156762	0.38958	0.79769	0.39593	D	AEFBI	0.188162	0.31545	N	0.366684513315024	0.59625	4.143584	0.378180577250926	0.60221	4.207421	0.999999542270888	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645948	0.59608	0	.	.	6.06	5.15	0.70287	1.779000	0.38254	5.595000	0.49008	0.676000	0.76740	0.891000	0.31220	0.992000	0.31684	0.991000	0.66497	0.0782:0.0:0.9218:0.0	12.467	0.55106	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	0.04762	2455.11	34	chr11	18006653	.	G	C	2455.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=866;ExcessHet=0.1072;FS=0.531;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-1.550e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1292,0,1043	19	0	2	0
chr11	20947424	20947424	G	A	exonic	NELL1	.	nonsynonymous SNV	NELL1:NM_001288714:exon10:c.G989A:p.R330H	.	.	417	1067	37	1	0	39	0.0179475	.	.	724358	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	0.916	P	0.489	P	0.001	N	0.903	N	0.345	N	-0.14	T	-0.964	T	0.106	T	0.223	3.308	17.12	4.31	1.630	1.745	10.761	0.149	.	0.0036	0.00259585	0.0041	0.0010	0.0010	0	0.0006	0.0040	0.0055	0.0118	0.0038939	602	154602	rs141323787	0.0038	0.0039	0.0036	0.0041	0.0137	0.0038	0.0037	0.0113	0.0108	0.0008	0.0016	0.0097	0.0001	0.0005	0.0137	0.0035	0.0041	0.0116	0.0031	0.0032	0.0031	0.0032	0.0108	0.0029	0.0028	0.0085	0.0076	0.0009	0	0.0058	0.0121	0.0002	0.0006	0.0136	0.0035	0.0043	0.0108	0.005	0.63226	D	0.042	0.63918	D	0.265	0.50672	B	0.063	0.47308	B	0.001247	0.39669	N	0.303149	0.93939	0.27659	N	0.345	0.11182	N	-0.14	0.65006	T	-2.12	0.50175	N	0.358	0.39962	-0.9636	0.38488	T	0.106	0.38783	T	10	0.010558307	0.00234	T	.	.	.	0.149	0.39377	.	.	0.728451066549	0.72604	0.40356519137482655	0.40272	0.151477196023	0.17094	0.317092180252	0.12980	T	0.032393	0.49628	T	-0.446886	0.01178	T	-0.404309	0.32882	T	0.0123494699315133	0.00201	T	0.964804	0.88767	D	0.122169904	0.28713	0.11407641	0.27535	0.122169904	0.28713	0.11407641	0.27534	-5.789	0.44478	T	.	.	0.069	0.03301	B	.;.;.;.	.;.;.;.	3.437747	0.47809	22.5	0.99778595692300542	0.86606	0.79249	0.39234	D	AEFI	0.346655	0.44140	N	-0.00128806613441537	0.41796	2.506534	0.142131235549213	0.46726	2.913993	1.29534354133135E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	4.31	0.50718	1.780000	0.38264	2.856000	0.35172	0.676000	0.76740	0.872000	0.30832	0.995000	0.32472	0.998000	0.85391	0.1438:0.0:0.8562:0.0	10.761	0.45465	936	0.14734	VWFC domain;VWFC domain;VWFC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	924.98	33	chr11	20947424	.	G	A	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=779;ExcessHet=0.0000;FS=4.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=0.306;SOR=1.323	GT:AD:DP:GQ:PL	0/1:41,36:77:99:939,0,966	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	2/3:2,5,9,9:25:41:469,261,383,150,153,185,166,41,0,125	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	2/3:2,5,9,9:25:41:469,261,383,150,153,185,166,41,0,125	0	0	0	0
chr11	32594950	32594950	T	A	exonic	EIF3M	.	nonsynonymous SNV	EIF3M:NM_001307929:exon4:c.T258A:p.F86L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.043	B	0.027	B	0.000	D	1.000	D	2.035	M	1.14	T	-0.958	T	0.139	T	0.883	3.276	17.00	-0.3	0.145	1.155	10.927	0.224	0.0217468940193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.37118	T	0.013	0.63918	D	0.043	0.21573	B	0.027	0.21085	B	0.000000	0.84330	D	0.044043	0.999997	0.58761	D	1.885	0.50048	L	1.14	0.56937	T	-4.15	0.75537	D	0.86	0.91736	-0.9575	0.39644	T	0.139	0.45810	T	10	0.6778835	0.71101	D	0.021747	0.44560	T	0.224	0.52174	0.644	0.78117	0.867546794744	0.86626	0.733553343052195	0.73300	0.881335486434	0.69781	0.861138701439	0.91280	D	0.357565	0.72425	T	0.218156	0.75603	D	0.0755897	0.75285	D	0.91304486989975	0.56917	D	0.948405	0.80130	D	0.44580892	0.63775	0.2462634	0.50132	0.44580892	0.63776	0.2462634	0.50131	-6.65	0.60961	T	.	.	0.986	0.92899	P	.;.;.;.	.;.;.;.	3.415100	0.47393	22.4	0.99121292363020119	0.53011	0.97677	0.76345	D	AEFGBI	0.850285	0.76711	D	-0.457795102512277	0.23476	1.26099	-0.359721190804064	0.26210	1.446193	0.927453782594647	0.26889	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	-0.3	0.12169	1.157000	0.31335	1.059000	0.23704	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.3197:0.0:0.6803	10.927	0.46411	558	0.71484	Proteasome component (PCI) domain;.;.;Proteasome component (PCI) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1734.98	33	chr11	32594950	.	T	A	1734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.050e-01;DP=840;ExcessHet=0.0000;FS=3.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-3.330e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/1:69,76:145:99:1749,0,1557	20	0	1	0
chr11	34118259	34118259	G	A	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon5:c.G421A:p.V141I	.	.	425	1074	20	3	0	26	0.0119595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	0.105	N	1.000	N	-0.275	N	1.6	T	-0.995	T	0.027	T	0.052	-1.310	0.035	-3.72	-0.974	0.161	13.249	0.016	0.0072581017845	7.7e-05	0.00159744	0.0012	0	0.0010	0	0	0.0003	0.0022	0.0068	0.0010349	160	154602	rs200281086	0.0007	0.0007	0.0004	0.0009	0.0073	0.0006	0.0006	0.0068	0.0066	5.974e-05	0.0007	0.0003	0	1.873e-05	0.0057	0.0002	0.0008	0.0073	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	7.221e-05	0	0.0002	0.0012	0	9.438e-05	0	0.0002	0.0019	0.0068	0.712	0.04020	T	0.667	0.07244	T	0.0	0.02946	B	0.0	0.01387	B	0.105105	0.19673	N	0.581663	1	0.08975	N	-0.32	0.03561	N	1.6	0.28604	T	-0.28	0.12661	N	0.202	0.22357	-0.9954	0.31191	T	0.027	0.11441	T	10	0.005977571	0.00134	T	0.007258	0.19253	T	0.016	0.02506	.	.	0.148003135375	0.14442	0.12018189718749481	0.11945	0.157606544175	0.17795	0.224297851324	0.01573	T	0.015696	0.13114	T	-0.697882	0.00038	T	-0.771649	0.02714	T	0.00657670257427901	0.00073	T	0.675332	0.28377	T	0.010757122	0.00010	0.020973336	0.00166	0.010757122	0.00010	0.020973336	0.00166	-2.458	0.08248	T	.	.	0.071	0.03773	B	.;.;.;.	.;.;.;.	-1.092207	0.00650	0.018	0.41104431210079645	0.02944	0.09367	0.15137	N	AEFGBI	0.071951	0.14342	N	-1.83012127711323	0.00476	0.02046864	-1.8206969432121	0.00695	0.03095526	0.00182986892131449	0.08920	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	-3.72	0.04125	0.173000	0.16538	-0.230000	0.10685	-2.607000	0.00233	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3424:0.0:0.6576:0.0	13.249	0.59470	332	0.86382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3694.11	34	chr11	34118259	.	G	A	3694.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.74;DP=1014;ExcessHet=0.1072;FS=2.810;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-1.480e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/1:97,58:155:99:1330,0,2314	19	0	2	0
chr11	34133032	34133032	C	T	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon14:c.C1408T:p.P470S	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.01	H	-0.51	T	0.677	D	0.703	D	0.912	5.218	33	5.63	2.665	7.812	19.694	0.840	0.340056014676	0.001	0.00179712	0.0015	0.0004	0.0010	0	0.0006	0.0019	0.0033	0.0024	0.0015136	234	154602	rs139767479	0.0014	0.0014	0.0013	0.0015	0.0052	0.0013	0.0013	0.0037	0.0033	0.0003	0.0012	0.0060	0	0.0003	0.0052	0.0013	0.0021	0.0021	0.0013	0.0013	0.0012	0.0014	0.0037	0.0012	0.0011	0.0024	0.0020	0.0004	0	0.0025	0.0066	0	0.0002	0.0034	0.0014	0.0014	0.0037	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.455	0.98836	H	-0.51	0.70717	T	-7.74	0.95765	D	0.93	0.93605	0.677	0.92888	D	0.703	0.89790	D	10	0.085134864	0.14341	T	0.340056	0.91990	D	0.840	0.94989	.	.	0.98143452695	0.98123	0.8183256553848752	0.81789	0.775488684363	0.65005	0.773990511894	0.78022	T	0.649938	0.89365	D	0.0804973	0.62098	D	0.336068	0.89758	D	0.205491321397604	0.20715	T	0.999243	0.99707	D	0.8582277	0.87951	0.8568298	0.91964	0.8582277	0.87952	0.8568298	0.91965	-13.431	0.91060	D	.	.	0.991	0.93824	P	.;.;.	.;.;.	4.843599	0.79105	27.0	0.99935357796255697	0.99579	0.99004	0.89829	D	AEFBI	0.893906	0.83234	D	1.06360058767642	0.97399	16.06271	0.976279542910214	0.98113	17.45876	0.999999999957628	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	7.899000	0.85994	7.703000	0.66393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	19.694	0.96008	333	0.86326	GNAT domain;.;GNAT domain	.	.	.	.	.	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	0.02381	2166.98	40	chr11	34133032	.	C	T	2166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.768;DP=1075;ExcessHet=0.0000;FS=4.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=1.87;SOR=0.458	GT:AD:DP:GQ:PL	0/1:103,88:191:99:2181,0,2693	20	0	1	0
chr11	35206198	35206198	A	G	exonic	CD44	.	nonsynonymous SNV	CD44:NM_001001389:exon10:c.A1240G:p.I414V	.	.	428	1048	42	4	0	50	0.0232992	.	.	724415	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.0	B	0.002	B	0.087	N	0.951	D	0.455	N	2.84	T	-1.036	T	0.094	T	0.171	0.018	4.108	-3.36	-0.769	-0.909	10.890	0.018	.	0.0012	0.00419329	0.0051	9.612e-05	0.0025	0	0	0.0019	0.0132	0.0271	0.0043984	680	154602	rs140510483	0.0027	0.0027	0.0018	0.0035	0.0261	0.0026	0.0026	0.0252	0.0248	0.0003	0.0015	0.0031	5.056e-05	3.745e-05	0.0172	0.0011	0.0036	0.0261	0.0018	0.0018	0.0013	0.0023	0.0207	0.0016	0.0015	0.0175	0.0162	0.0002	0	0.0014	0.0040	0	0	0.0306	0.0017	0.0014	0.0207	0.212	0.19854	T	1.0	0.12211	T	0.0	0.02946	B	0.001	0.06944	B	0.086558	0.20581	N	0.455727	0.950778	0.37710	D	0.255	0.09829	N	2.84	0.20387	T	-0.42	0.14193	N	0.113	0.10769	-1.0358	0.18606	T	0.094	0.35604	T	10	0.0032230914	0.00055	T	.	.	.	0.028	0.06331	.	.	0.146414634003	0.14194	0.10272548602318497	0.10202	0.0387608282298	0.04121	0.248365327716	0.03598	T	0.24548	0.61479	T	-0.628595	0.00098	T	-0.656113	0.08531	T	0.00108250113076798	0.00010	T	0.714029	0.32905	T	0.032998156	0.03432	0.046259083	0.06409	0.032998156	0.03432	0.046259083	0.06409	-3.36	0.14523	T	.	.	0.073	0.06433	B	.;.;.;.	.;.;.;.	-0.171630	0.03238	0.545	0.5231850831793089	0.04725	0.06643	0.12660	N	AEFGBHCI	0.089151	0.18071	N	-1.09676346202009	0.06702	0.3092912	-1.20747916356194	0.05789	0.2768153	0.999463579887593	0.39843	0.614807	0.35715	0	0.577304	0.33150	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	4.76	-3.36	0.04606	-0.931000	0.04076	0.078000	0.14353	-0.635000	0.04468	0.175000	0.24000	0.001000	0.17328	0.002000	0.04165	0.445:0.0:0.555:0.0	10.890	0.46198	883	0.28872	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	768.98	39	chr11	35206198	.	A	G	768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.77;DP=799;ExcessHet=0.0000;FS=0.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=1.27;SOR=0.835	GT:AD:DP:GQ:PL	0/1:65,35:100:99:783,0,1440	20	0	1	0
chr11	36462372	36462372	T	C	exonic	PRR5L	.	stoploss	PRR5L:NM_001160169:exon7:c.T616C:p.X206R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.231	B	0.183	B	0.001	D	0.647	N	.	.	-1.72	D	-0.973	T	0.082	T	0.091	3.014	16.05	4.09	0.801	1.496	2.949	0.171	.	.	0.000399361	0.0001	0.0001	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs200786830	3.595e-05	3.694e-05	4.167e-05	2.998e-05	6.45e-05	2.752e-05	2.479e-05	3.05e-05	2.71e-05	3.278e-05	6.45e-05	0	0	0	0	4.048e-05	3.572e-05	1.411e-05	4.601e-05	4.594e-05	2.572e-05	6.722e-05	0.0002	2.11e-05	1.527e-05	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	5.885e-05	0	0	0.828	0.02899	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000999	0.40743	D	0.214558	1	0.30568	N	.	.	.	-1.72	0.83241	D	0.5	0.02945	N	0.033	0.00942	-0.9729	0.36583	T	0.082	0.32324	T	9	0.030539423	0.01181	T	.	.	.	0.171	0.43483	0.208	0.12497	0.661647421419	0.65881	0.28987701171747027	0.28900	0.329051736982	0.35014	0.390372544527	0.23723	T	0.002502	0.01894	T	-0.28693	0.09947	T	-0.401623	0.33196	T	0.037956174181755	0.03324	T	0.559044	0.19511	T	0.041982044	0.06285	0.03819325	0.03634	0.041982044	0.06284	0.03819325	0.03634	-2.899	0.09133	T	.	.	0.123	0.25817	B	.;.	.;.	2.274226	0.29073	18.00	0.78488407762633061	0.12322	0.46671	0.27812	N	AEFBI	0.105748	0.21121	N	0.0387001779400297	0.43625	2.651684	0.0766297161062671	0.43375	2.640628	0.99905087320658	0.38317	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.25	4.09	0.47038	1.502000	0.35312	4.230000	0.42646	0.665000	0.62972	0.852000	0.30477	1.000000	0.68203	0.624000	0.32000	0.1863:0.1948:0.0:0.6189	2.949	0.05496	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	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	0.02381	918.98	33	chr11	36462372	.	T	C	918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=0.667;SOR=0.747	GT:AD:DP:GQ:PL	0/1:59,40:99:99:933,0,1471	20	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:205,0,53:258:99:0|1:56375918_A_G:1608,2225,10829,0,8604,8444:56375918	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:205,0,53:258:99:0|1:56375918_A_G:1608,2225,10829,0,8604,8444:56375918	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:205,0,53:258:99:0|1:56375918_A_G:1608,2225,10829,0,8604,8444:56375918	1	0	3	1
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.09524	330.15	47	chr11	56412815	.	A	G	330.15	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.272e+00;DP=1901;ExcessHet=0.6776;FS=88.232;InbreedingCoeff=-0.1093;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.46;SOR=10.239	GT:AD:DP:GQ:PL	0/1:119,29:148:42:42,0,2460	17	0	4	0
chr11	58579556	58579556	C	G	exonic	ZFP91	.	nonsynonymous SNV	ZFP91:NM_001197051:exon1:c.C275G:p.P92R	.	.	414	1091	17	0	0	17	0.00773079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.022	B	0.003	B	0.000	N	0.999	N	0.345	N	3.0	T	-0.986	T	0.011	T	0.137	2.022	12.72	1.73	0.154	0.735	8.740	0.069	.	0.0048	0.00399361	0.0148	0.0012	0.0014	0	0.0847	0.0146	0.0310	0.0162	0.0091913	1421	154602	rs200108858	0.0100	0.0100	0.0099	0.0102	0.0140	0.0099	0.0098	0.0133	0.0131	0.0008	0.0017	0.0002	8.498e-05	0.0475	0.0049	0.0092	0.0086	0.0140	0.0091	0.0091	0.0072	0.0110	0.0141	0.0087	0.0085	0.0114	0.0104	0.0013	0.0022	0.0037	0	0.0002	0.0543	0	0.0091	0.0033	0.0141	0.003	0.68238	D	0.007	0.69154	D	0.013	0.16609	B	0.001	0.04355	B	0.000000	0.00162	N	15.234600	0.999218	0.21497	N	0	0.06538	N	3.0	0.09167	T	-0.75	0.21003	N	0.047	0.01911	-0.9860	0.33590	T	0.011	0.04134	T	10	0.0023399293	0.00034	T	.	.	.	0.069	0.20116	.	.	.	.	0.058964305836718	0.05837	0.298534013486	0.32233	0.710501134396	0.68666	T	0.068161	0.33387	T	-0.606313	0.00133	T	-0.632026	0.10262	T	0.0536316216313738	0.06127	T	0.70113	0.31087	T	0.300261	0.52928	0.34986305	0.60604	0.300261	0.52928	0.34986305	0.60604	-4.406	0.29638	T	.	.	0.141	0.31074	B	.	.	1.707634	0.21744	15.33	0.98572303355656599	0.43128	0.36916	0.25643	N	AEFGBHCIJ	0.045923	0.07565	N	-0.727865100058319	0.15241	0.7663986	-0.645672969450533	0.18326	0.9784742	0.99999999999951	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.76	1.73	0.23565	0.576000	0.23446	2.204000	0.31312	0.465000	0.21702	0.000000	0.06391	0.010000	0.20010	0.754000	0.35928	0.4005:0.5995:0.0:0.0	8.740	0.33713	622	0.65860	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	854.98	34	chr11	58579556	.	C	G	854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.929e+00;DP=808;ExcessHet=0.0000;FS=0.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-3.070e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/1:31,41:72:99:869,0,791	20	0	1	0
chr11	59151775	59151775	G	A	exonic	FAM111A	.	nonsynonymous SNV	FAM111A:NM_001369457:exon3:c.G107A:p.C36Y	Gracile bone dysplasia, Autosomal dominant;Kenny-Caffey syndrome, type 2, Autosomal dominant	.	428	1072	22	0	0	22	0.010157	.	.	752706	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.002	B	0.001	B	0.826	N	1.000	N	0.345	N	0.9	T	-1.021	T	0.058	T	0.183	0.561	7.031	1.23	0.165	-0.164	4.960	0.040	.	0.0004	0.00179712	0.0029	0	0.0005	0	0	0.0008	0.0034	0.0188	0.0023803	368	154602	rs143326650	0.0013	0.0013	0.0008	0.0018	0.0167	0.0012	0.0012	0.0160	0.0157	6.281e-05	0.0002	0.0016	2.524e-05	0	0.0060	0.0002	0.0013	0.0167	0.0006	0.0006	0.0004	0.0008	0.0120	0.0005	0.0005	0.0096	0.0087	7.219e-05	0	0.0003	0.0020	0	0	0	0.0003	0.0014	0.0120	0.022	0.49117	D	0.045	0.49390	D	0.002	0.09854	B	0.001	0.04355	B	0.825835	0.09144	N	0.912601	1	0.08975	N	0.345	0.11182	N	0.9	0.45248	T	-1.76	0.50337	N	0.063	0.03502	-1.0209	0.23421	T	0.058	0.24502	T	10	0.00320369	0.00054	T	.	.	.	0.040	0.10527	.	.	0.132336055621	0.12781	0.12562148334257048	0.12488	0.0254931719734	0.02608	0.276431590319	0.07000	T	0.016882	0.30042	T	-0.606615	0.00133	T	-0.630511	0.10376	T	0.00571938942511619	0.00062	T	0.318368	0.08641	T	0.06359537	0.13407	0.08472309	0.19511	0.050478965	0.09124	0.07409121	0.16172	-4.687	0.33246	T	.	.	0.097	0.23986	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.443511	0.02056	0.188	0.37765248010604441	0.02508	0.05936	0.11892	N	AEFGBCI	0.049157	0.08465	N	-1.29738466777112	0.03707	0.1660839	-1.30135598189309	0.04413	0.2080986	0.999917344028308	0.45857	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.21	1.23	0.20358	-0.065000	0.11575	-1.757000	0.04782	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.082000	0.17360	0.0:0.4461:0.3587:0.1952	4.960	0.13412	617	0.66297	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	612.98	33	chr11	59151775	.	G	A	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.760e+00;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.95;ReadPosRankSum=-1.187e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/1:20,21:41:99:627,0,598	20	0	1	0
chr11	59576655	59576655	C	G	exonic	OSBP	.	nonsynonymous SNV	OSBP:NM_002556:exon14:c.G2346C:p.E782D,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.062	B	0.123	B	0.000	D	1.000	D	1.3	L	1.48	T	-1.078	T	0.065	T	0.715	2.466	14.20	3.79	1.384	1.623	9.718	0.131	0.00913152403683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.381	0.15939	T	0.062	0.23277	B	0.123	0.32463	B	0.000000	0.84330	D	0.048661	0.999998	0.58761	D	2.035	0.55589	M	1.48	0.31731	T	-1.06	0.27669	N	0.501	0.53357	-1.0779	0.07761	T	0.065	0.26983	T	10	0.22170949	0.38902	T	0.009132	0.24012	T	0.131	0.35738	0.474	0.55020	0.5531981094	0.54978	0.7577891793986536	0.75726	1.95920376204	0.93432	0.558212161064	0.47015	T	0.107615	0.41997	T	0.00300081	0.52069	T	-0.233466	0.51436	T	0.585588693618774	0.35834	D	0.823618	0.48435	T	0.15926202	0.35786	0.14158715	0.33713	0.15926202	0.35785	0.14158715	0.33712	-5.979	0.46104	T	.	.	0.221	0.45211	B	.	.	3.597587	0.50803	23.0	0.99334880091535604	0.59934	0.95455	0.64789	D	AEFBI	0.299406	0.40847	N	-0.138994189253905	0.35704	2.054226	-0.00103502876686945	0.39670	2.355603	0.851910093261301	0.25060	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	3.79	0.42757	1.698000	0.37413	4.041000	0.41425	0.599000	0.40250	0.851000	0.30461	1.000000	0.68203	0.999000	0.91618	0.0:0.7799:0.0:0.2201	9.718	0.39452	408	0.82256	.	.	.	.	.	.	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	0.02381	1567.98	34	chr11	59576655	.	C	G	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-01;DP=829;ExcessHet=0.0000;FS=2.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-2.580e-01;SOR=0.460	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1582,0,1267	20	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,49:99:99:.:.:877,0,729	0	0	21	0
chr11	63768508	63768508	C	T	exonic	C11orf95	.	nonsynonymous SNV	C11orf95:NM_001144936:exon1:c.G115A:p.A39T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs988744598	2.837e-05	4.788e-05	2.407e-05	3.285e-05	3.91e-05	2.012e-05	1.746e-05	2.178e-05	1.875e-05	0	0	0	0	0	0	3.141e-05	0	3.91e-05	2.029e-05	2.635e-05	3.957e-05	0	4.531e-05	5.4e-06	2.5e-06	1.203e-05	6.34e-06	0	0	0	0	0	0	0	4.531e-05	0	0	.	.	.	0.871	0.07342	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.097	0.07811	.	.	.	.	.	.	.	0.050802857	0.04867	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.16555061153996714	0.16475	.	.	.	.	.	0.012516	0.10987	T	-0.245977	0.14596	T	-0.591106	0.13569	T	.	.	.	0.471453	0.13989	T	0.024703583	0.01329	0.09652446	0.22937	0.024703583	0.01329	0.09652446	0.22937	-4.867	0.35362	T	.	.	0.079	0.07460	B	.;.	.;.	1.272071	0.16708	12.71	0.90120932142696286	0.19402	0.00387	0.01950	N	ALL	.	.	.	.	.	.	.	.	.	0.999999998894538	0.74766	0.075627	0.01787	0	0.043486	0.00082	2	0.04985	0.00251	1	0.127398	0.03941	1	0.164449	0.28456	1.72	-3.43	0.04507	-1.249000	0.02998	0.426000	0.18273	0.393000	0.20503	0.000000	0.06391	0.997000	0.33255	0.245000	0.23132	0.4164:0.2565:0.0:0.3271	2.261	0.03818	561	0.71236	.;.	.	.	.	.	.	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	0.02381	355.98	36	chr11	63768508	.	C	T	355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=675;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.13;ReadPosRankSum=0.478;SOR=0.793	GT:AD:DP:GQ:PL	0/1:20,19:39:99:370,0,378	20	0	1	0
chr11	64910899	64910899	G	A	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon11:c.C1522T:p.R508W	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.002	B	0.001	B	0.159	N	0.991	N	1.59	L	3.2	T	-1.024	T	0.019	T	0.331	2.821	15.39	2.96	1.257	0.957	4.819	0.029	0.00798199143251	7.7e-05	0.000199681	2.89e-05	0	9.942e-05	0	0	3.474e-05	0	0	4.53e-05	7	154602	rs144934345	1.233e-05	1.231e-05	5.453e-06	1.928e-05	0.0003	7.71e-06	6.36e-06	6.096e-05	2.522e-05	0	4.489e-05	0	0	0	0.0003	7.197e-06	3.317e-05	4.651e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.082	0.33254	T	0.171	0.30339	T	0.002	0.09854	B	0.001	0.04355	B	0.159479	0.17709	N	0.555420	0.991063	0.24087	N	2.2	0.62015	M	3.2	0.07236	T	-0.98	0.25986	N	0.41	0.45047	-1.0236	0.22541	T	0.019	0.08079	T	10	0.07388008	0.11221	T	0.007982	0.21162	T	0.037	0.09474	.	.	0.0675242888579	0.06100	0.436372202197455	0.43554	0.399458701232	0.40972	0.324746131897	0.14140	T	0.011815	0.10487	T	-0.358261	0.04229	T	-0.576547	0.14856	T	0.268961519002914	0.23702	T	0.839616	0.51418	T	0.026316445	0.01673	0.021693522	0.00213	0.026316445	0.01673	0.021693522	0.00212	-5.832	0.44852	T	.	.	0.093	0.13923	B	.	.	2.635786	0.34287	19.58	0.99270060130769255	0.57525	0.51694	0.28955	D	AEFBI	0.204989	0.33138	N	-0.769190636641399	0.14117	0.7006795	-0.745908320490622	0.15822	0.8340746	0.0173932356135486	0.12946	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	2.96	0.33383	0.168000	0.16438	2.489000	0.32975	-0.135000	0.12811	0.005000	0.17040	0.790000	0.26855	0.002000	0.04165	0.1162:0.0:0.6312:0.2526	4.819	0.12745	295	0.88218	.	.	.	.	.	.	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	0.02381	748.98	37	chr11	64910899	.	G	A	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.405;DP=759;ExcessHet=0.0000;FS=2.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=0.053;SOR=0.373	GT:AD:DP:GQ:PL	0/1:25,28:53:99:763,0,676	20	0	1	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:28,5,0,0:33:99:109,0,1116,193,1132,1325,193,1132,1325,1325	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:28,5,0,0:33:99:109,0,1116,193,1132,1325,193,1132,1325,1325	10	0	4	0
chr11	65613428	65613428	T	C	exonic	MAP3K11	.	nonsynonymous SNV	MAP3K11:NM_002419:exon1:c.A329G:p.E110G,	.	.	.	.	.	.	.	.	.	.	.	2242017	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.153	B	0.165	B	0.086	N	1.000	D	0.825	L	-0.92	T	-0.641	T	0.260	T	0.399	3.114	16.40	4.47	1.657	3.326	10.175	0.319	0.0349630080215	.	.	8.519e-06	0	0	0	0	1.567e-05	0	0	1.29e-05	2	154602	rs750477481	6.849e-07	6.842e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.034	0.52727	D	0.153	0.28093	B	0.165	0.35019	B	0.086187	0.20600	N	0.456339	0.987159	0.40544	D	0.125	0.08623	N	-0.92	0.75108	T	-1.64	0.39314	N	0.233	0.26233	-0.6406	0.63120	T	0.260	0.63044	T	10	0.230685	0.40025	T	0.034963	0.56032	D	0.319	0.64112	.	.	0.87091800077	0.86966	0.7644548420651011	0.76393	0.924757140821	0.71599	0.653540551662	0.60489	T	0.760689	0.93515	D	-0.0227443	0.48460	T	-0.270447	0.47775	T	0.239478079312317	0.22395	T	0.636336	0.25008	T	0.16049545	0.35995	0.15680008	0.36693	0.16049545	0.35994	0.15680008	0.36692	-2.786	0.08055	T	.	.	0.145	0.31980	B	.	.	4.577823	0.72295	25.8	0.99802246083174462	0.88728	0.89735	0.50392	D	AEFDGBCI	0.591368	0.58749	D	-0.0847874910426243	0.38059	2.223376	0.0538840770857947	0.42259	2.55301	0.999999999053958	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.56214	0.19341	0	.	.	4.47	4.47	0.53770	0.979000	0.29098	5.107000	0.47483	-0.110000	0.15115	0.223000	0.24568	1.000000	0.68203	0.915000	0.45038	0.0:0.0:0.0:1.0	10.175	0.42111	275	0.89190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1647.98	35	chr11	65613428	.	T	C	1647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.659e+00;DP=910;ExcessHet=0.0000;FS=4.164;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.00;ReadPosRankSum=-3.900e-02;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,74:206:99:0|1:65613428_T_C:1662,0,5070:65613428	20	0	1	0
chr11	65635536	65635536	G	A	exonic	PCNX3	.	nonsynonymous SNV	PCNX3:NM_032223:exon32:c.G5192A:p.R1731Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.998	D	0.951	D	0.000	D	1.000	D	2.905	M	0.9	T	-0.575	T	0.247	T	0.496	4.169	21.6	4.11	2.142	4.306	7.663	0.315	0.0501676548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375513932	6.172e-06	6.156e-06	9.553e-06	2.757e-06	1.16e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.198e-06	0	1.16e-05	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.049	0.48336	D	0.997	0.70673	D	0.835	0.59863	P	0.000001	0.84330	D	0.000000	1	0.81001	D	2.97	0.85306	M	0.9	0.45248	T	-2.25	0.50337	N	0.468	0.50418	-0.5751	0.65811	T	0.247	0.61589	T	10	0.54787177	0.64087	D	0.050168	0.64125	D	0.315	0.63694	0.56	0.67958	0.734201428268	0.73182	0.957156494008099	0.95700	.	.	0.753052711487	0.74897	T	0.366424	0.73168	T	-0.0381672	0.46222	T	-0.292601	0.45501	T	0.895845651626587	0.54747	D	0.937606	0.76517	D	0.28655025	0.51669	0.1711663	0.39280	0.28655025	0.51669	0.1711663	0.39279	-6.93	0.53521	T	.	.	0.140	0.30713	B	.	.	5.414069	0.90608	31	0.99933385146240539	0.99488	0.93809	0.59253	D	AEFGBI	0.492476	0.52910	N	0.590914763409504	0.72606	5.83242	0.485795432197805	0.67047	5.032175	0.999987614580826	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.11	4.11	0.47350	4.564000	0.60546	5.196000	0.47916	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.182000	0.21359	0.1137:0.0:0.8863:0.0	7.663	0.27582	275	0.89190	Pecanex, C-terminal	.	.	.	.	.	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	0.02381	2656.98	35	chr11	65635536	.	G	A	2656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=879;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.14;ReadPosRankSum=-8.200e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:62,93:155:99:2671,0,1563	20	0	1	0
chr11	66052460	66052460	G	T	exonic	SF3B2	.	nonsynonymous SNV	SF3B2:NM_006842:exon1:c.G76T:p.A26S,	.	.	401	1104	13	4	0	21	0.00942127	.	.	701898	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.102	B	0.032	B	0.000	N	0.532	D	0	N	.	.	-0.987	T	0.049	T	0.39	4.981	29.1	4.16	1.465	2.782	10.838	0.053	.	0.0061	0.00319489	0.0067	0.0019	0.0029	0	0.0008	0.0105	0.0045	0.0031	0.0066558	1029	154602	rs11554199	0.0080	0.0080	0.0079	0.0080	0.0114	0.0078	0.0078	0.0092	0.0087	0.0016	0.0040	0.0243	5.04e-05	0.0014	0.0114	0.0089	0.0080	0.0029	0.0062	0.0062	0.0064	0.0059	0.0095	0.0058	0.0057	0.0089	0.0086	0.0014	0.0011	0.0073	0.0253	0	0.0008	0.0034	0.0095	0.0033	0.0031	0.011	0.57480	D	0.209	0.26798	T	0.102	0.25827	B	0.032	0.22131	B	0.000012	0.62929	N	0.113619	0.531941	0.31982	D	0.695	0.17993	N	.	.	.	-0.1	0.21429	N	0.331	0.37197	-0.9865	0.33469	T	0.049	0.20908	T	9	0.007796645	0.00177	T	.	.	.	0.053	0.14996	.	.	0.462259749948	0.45850	0.25784480060685094	0.25698	0.408431882376	0.41683	0.585962891579	0.50926	T	0.011268	0.30031	T	-0.343567	0.05145	T	-0.25461	0.49361	T	0.0435647871220627	0.04341	T	0.89491	0.63503	D	0.21293293	0.43659	0.31694704	0.57673	0.3075887	0.53577	0.31694704	0.57672	-2.965	0.09809	T	.	.	0.080	0.15654	B	.;.;.;.;.	.;.;.;.;.	3.839874	0.55556	23.6	0.99741221174329819	0.83482	0.63868	0.32224	D	ALL	0.376391	0.46055	N	-0.213324206368291	0.32586	1.839328	-0.0181795085978144	0.38895	2.298088	0.999999999999935	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.09	4.16	0.48138	3.057000	0.49624	8.554000	0.77540	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8116:0.1884	10.838	0.45905	199	0.92292	SAP domain|SAP domain|SAP domain;SAP domain|SAP domain|SAP domain;SAP domain|SAP domain|SAP domain;SAP domain|SAP domain|SAP domain;SAP domain|SAP domain|SAP domain	.	.	.	.	rs11554199	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	0.025	551.33	34	chr11	66052460	.	G	T	551.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.290e-01;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.322;SOR=0.807	GT:AD:DP:GQ:PL	0/1:28,23:51:99:565,0,757	19	0	1	1
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	0/1:29,22,0,0:51:99:817,0,1095,904,1162,2066,904,1162,2066,2066	5	4	8	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,35:118:53:.:.:53,0,1471	8	0	12	1
chr11	67307912	67307912	T	G	exonic	SSH3	.	nonsynonymous SNV	SSH3:NM_017857:exon8:c.T858G:p.S286R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.993	D	0.865	P	0.014	N	1.000	D	1.39	L	3.81	T	-1.007	T	0.045	T	0.517	0.075	4.408	-3.72	-0.980	-2.751	6.760	0.171	0.0240560361761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.34621	T	0.534	0.09965	T	0.417	0.65571	B	0.246	0.61524	B	0.014200	0.28607	N	0.308380	0.888341	0.81001	D	0.895	0.22405	L	3.78	0.03836	T	0.5	0.02945	N	0.355	0.39659	-1.0071	0.27819	T	0.045	0.19234	T	10	0.15192142	0.28706	T	0.024056	0.47042	T	0.171	0.43483	0.432	0.48171	0.0920862733494	0.08535	0.7188963077735865	0.71832	0.644564289753	0.57945	0.443511337042	0.31057	T	0.141777	0.47702	T	-0.189448	0.22339	T	-0.509906	0.21325	T	0.311811834573746	0.25488	T	0.640436	0.25296	T	0.043452576	0.06775	0.04164666	0.04782	0.043452576	0.06775	0.04164666	0.04782	-4.296	0.28121	T	.	.	0.603	0.68999	P	.;.	.;.	-0.559628	0.01685	0.121	0.67726393326043655	0.08441	0.16502	0.19418	N	AEFDGBI	0.315497	0.42005	N	-1.1824551665039	0.05265	0.2396083	-1.31255918024842	0.04267	0.2009009	0.99991798872534	0.45857	0.732398	0.92422	0	0.588066	0.40923	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.5	-3.72	0.04125	-3.845000	0.00396	-2.219000	0.04040	-1.838000	0.00583	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1239:0.4449:0.0:0.4312	6.760	0.22723	397	0.82902	DEK, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1785.98	36	chr11	67307912	.	T	G	1785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.960e-01;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.056e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/1:63,75:138:99:1800,0,1505	20	0	1	0
chr11	67608412	67608412	C	G	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon2:c.C62G:p.T21S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.005	B	0.013	B	0.000	D	1.000	D	1.89	L	-1.19	T	-0.487	T	0.348	T	0.101	2.699	14.99	3.84	2.474	5.565	11.086	0.249	0.0237339634623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.21634	T	0.231	0.25438	T	0.005	0.12996	B	0.007	0.16460	B	0.000081	0.52346	D	0.167753	0.999951	0.81001	D	1.735	0.44892	L	-1.19	0.78427	T	-1.01	0.48850	N	0.342	0.40465	-0.4870	0.69115	T	0.348	0.71289	T	10	0.3319496	0.50409	T	0.023734	0.46713	T	0.249	0.55752	0.257	0.19845	0.822129434029	0.82045	0.6979377297507748	0.69734	0.238803893762	0.26431	0.763441562653	0.76443	T	0.245562	0.61488	T	-0.078465	0.39963	T	-0.350486	0.39149	T	0.744090855121613	0.42959	D	0.776122	0.40827	T	0.107709534	0.25468	0.062265858	0.12156	0.107709534	0.25468	0.062265858	0.12155	-6.651	0.51440	T	.	.	0.082	0.26576	B	.;.;.;.;.;.	.;.;.;.;.;.	3.411859	0.47334	22.4	0.98490803181232456	0.42096	0.97411	0.74579	D	AEFBI	0.809988	0.73335	D	0.0583570156422493	0.44526	2.725182	0.196330027643671	0.49646	3.165261	0.999999985050494	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	3.84	0.43422	5.647000	0.67597	4.850000	0.45366	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9063:0.0:0.0937	11.086	0.47306	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	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	0.05556	125.76	122	chr11	67608412	.	C	G	125.76	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.092e+00;DP=2510;ExcessHet=0.1072;FS=119.535;InbreedingCoeff=-0.1044;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.306;SOR=11.234	GT:AD:DP:GQ:PL	0/1:140,37:189:99:123,0,2411	16	0	2	3
chr11	68312749	68312749	-	GCT	exonic	LRP5	.	nonframeshift insertion	LRP5:NM_002335:exon1:c.35_36insGCT:p.L20_A21insL,	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	26	179	10	6	5	27	0.0578947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	951.96	12	chr11	68312746	.	CGCT	CGCTGCT,C	951.96	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-8.330e-01;DP=282;ExcessHet=1.1607;FS=1.068;InbreedingCoeff=-0.1413;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=18.67;ReadPosRankSum=0.100;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,6,0:12:99:.:.:227,0,231,245,249,494	16	0	4	0
chr11	71435840	71435840	C	G	splicing	DHCR7	NM_001163817:exon9:c.964-1G>C;NM_001360:exon9:c.964-1G>C	.	.	Smith-Lemli-Opitz syndrome, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	1.0000	0.936	99628	Smith-Lemli-Opitz_syndrome|DHCR7-related_disorder|Global_developmental_delay|not_provided|See_cases|Inborn_genetic_diseases	MONDO:MONDO:0010035,MedGen:C0175694,OMIM:270400,Orphanet:818|.|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	D	.	.	-5.86	D	0.877	D	0.968	D	0.293	3.873	19.68	5.08	2.363	6.811	15.943	0.557	.	0.0054	0.00259585	0.0042	0.0030	0.0016	0	0.0018	0.0068	0.0015	7.154e-05	0.003758	581	154602	rs138659167	0.0078	0.0077	0.0082	0.0074	0.0094	0.0077	0.0076	0.0092	0.0091	0.0013	0.0019	0.0121	0	0.0016	0.0003	0.0094	0.0066	0.0001	0.0042	0.0042	0.0048	0.0037	0.0068	0.0040	0.0039	0.0063	0.0061	0.0017	0	0.0023	0.0127	0	0.0018	0	0.0068	0.0057	0.0002	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-5.86	0.99406	D	0.01	0.06868	N	.	.	0.877	0.95365	D	0.968	0.98972	D	6	0.009255409	0.00209	T	.	.	.	0.557	0.81774	.	.	0.888143595402	0.88703	.	.	.	.	.	.	.	0.281177	0.65389	T	0.289476	0.82113	D	0.65	0.98035	D	0.0244085802813395	0.01197	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43366	B	.	.	5.881037	0.93930	33	0.99432579493505502	0.64325	0.97362	0.74270	D	AEFDBCI	0.775278	0.70874	D	1.08993767821549	0.97943	17.08289	0.928480279191329	0.96698	15.02707	0.999999898606532	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	6.890000	0.75451	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:1.0:0.0:0.0	15.943	0.79559	649	0.63102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	783.98	69	chr11	71435840	.	C	G	783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.920e-01;DP=1668;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.327;SOR=0.680	GT:AD:DP:GQ:PL	0/1:36,31:67:99:798,0,974	20	0	1	0
chr11	76411063	76411063	C	G	exonic	GVQW3	.	nonsynonymous SNV	GVQW3:NM_001347884:exon2:c.C667G:p.L223V,	.	.	1090	430	2	0	0	2	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs574655085	0	1.908e-05	0	0	.	0	0	.	.	.	.	.	.	.	0	0	.	.	0.0003	0.0003	0.0002	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0	0	0.0005	0.0006	0	0	0	0.0002	0	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04762	2459.11	43	chr11	76411063	.	C	G	2459.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.762e+00;DP=941;ExcessHet=0.1072;FS=12.151;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-9.430e-01;SOR=0.242	GT:AD:DP:GQ:PL	0/1:40,48:88:99:1271,0,1224	19	0	2	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.924	P	0.649	P	0.001	D	0.906	D	1.1	L	1.33	T	-1.000	T	0.090	T	0.504	2.394	13.96	4.98	1.502	4.230	10.392	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	351.81	55	chr11	94618061	.	G	C	351.81	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.574e+00;DP=1213;ExcessHet=1.7912;FS=147.073;InbreedingCoeff=-0.2177;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=0.407;SOR=10.626	GT:AD:DP:GQ:PL	0/1:37,12:49:20:20,0,527	14	0	6	1
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,81,0:83:99:.:.:3400,246,0,3421,257,3530	0	17	3	0
chr11	102770800	102770800	T	A	exonic	MMP10	.	nonsynonymous SNV	MMP10:NM_002425:exon10:c.A1424T:p.H475L,	.	.	421	1076	23	2	0	27	0.012391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.002	B	0.182	N	1.000	N	0	N	4.31	T	-0.927	T	0.004	T	0.174	1.494	10.94	-0.109	-0.137	-0.107	0.770	0.017	0.00318068657609	0.0005	0.00119808	0.0010	0.0004	0.0010	0	0	0.0011	0.0011	0.0018	0.0001552	24	154602	rs17861009	0.0009	0.0009	0.0008	0.0010	0.0108	0.0009	0.0008	0.0087	0.0079	0.0003	0.0013	0.0013	0	0	0.0108	0.0009	0.0014	0.0015	0.0008	0.0008	0.0008	0.0008	0.0026	0.0007	0.0007	0.0020	0.0017	0.0001	0	0.0026	0.0003	0	0	0.0170	0.0009	0.0028	0.0019	0.09	0.31987	T	0.327	0.18732	T	0.0	0.02946	B	0.002	0.06944	B	0.182352	0.03190	N	2.149840	1	0.08975	N	-1.355	0.00654	N	4.31	0.02412	T	-2.33	0.51646	N	0.09	0.06854	-0.9266	0.44630	T	0.004	0.01261	T	10	0.010596365	0.00235	T	0.003181	0.06966	T	0.017	0.02790	.	.	0.313210971179	0.30940	0.40563307745190585	0.40479	0.0101727849801	0.00935	0.256714820862	0.04508	T	0.111286	0.42665	T	-0.602134	0.00142	T	-0.673078	0.07413	T	0.000818511629131187	0.00008	T	0.447355	0.12562	T	0.0582979	0.11712	0.064278685	0.12857	0.0582979	0.11712	0.064278685	0.12857	-6.871	0.53085	T	.	.	0.077	0.06295	B	.	.	1.194081	0.15853	12.15	0.8362894528783974	0.14831	0.04282	0.09822	N	AEFBI	0.050999	0.08966	N	-1.25146082571479	0.04280	0.1928792	-1.24758167566543	0.05167	0.2455461	7.82660280016732E-5	0.04552	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.92	-0.109	0.12922	-0.314000	0.08132	0.155000	0.15338	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.510000	0.29244	0.202:0.1942:0.1238:0.4801	0.770	0.00956	768	0.49510	Hemopexin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	731.98	45	chr11	102770800	.	T	A	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=822;ExcessHet=0.0000;FS=6.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=2.26;SOR=0.760	GT:AD:DP:GQ:PL	0/1:43,32:75:99:746,0,1120	20	0	1	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,141:141:99:.:.:6175,6175,6175,432,432,0	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,141:141:99:.:.:6175,6175,6175,432,432,0	1	0	0	0
chr11	123943051	123943051	G	C	exonic	OR6T1	.	stopgain	OR6T1:NM_001005187:exon1:c.C788G:p.S263X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.099	12.97	3.39	1.704	0.041	7.879	.	.	.	0.000199681	0.0002	0	0	0	0	4.495e-05	0	0.0013	0.0001876	29	154602	rs571668570	9.44e-05	9.44e-05	5.445e-05	0.0001	0.0011	8.134e-05	7.65e-05	0.0009	0.0008	0	8.944e-05	0	0	0	0.0003	2.878e-05	0.0001	0.0011	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0004	0	0	0.0009	0	0	0	0	0.0001	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999996	0.58761	D	.	.	.	.	.	.	.	.	.	0.013	0.00142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100077	0.64300	D	0.314629	0.88860	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.484272	0.96564	36	0.9901371651516897	0.50420	0.08942	0.14793	N	AEFI	0.041011	0.06178	N	0.38642830820306	0.60687	4.260261	0.0441258952963815	0.41788	2.516477	9.83115507142018E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.39	3.39	0.37919	0.164000	0.16359	1.114000	0.24184	0.626000	0.51810	0.000000	0.06391	0.002000	0.18203	0.932000	0.46971	0.0:0.0:0.7535:0.2465	7.879	0.28773	883	0.28872	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3269.98	34	chr11	123943051	.	G	C	3269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-02;DP=1212;ExcessHet=0.0000;FS=6.999;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.371;SOR=0.537	GT:AD:DP:GQ:PL	0/1:121,122:243:99:3284,0,3233	20	0	1	0
chr11	124038235	124038235	A	G	exonic	OR10G7	.	nonsynonymous SNV	OR10G7:NM_001004463:exon1:c.T767C:p.F256S,	.	.	430	1080	12	0	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.754	P	0.799	P	0.000	D	1.000	N	1.7	L	8.35	T	-0.965	T	0.001	T	0.732	2.396	13.97	3.38	1.547	2.763	3.701	0.173	0.0012639598594	0.0002	0.000798722	0.0010	9.612e-05	0.0002	0	0	0.0006	0	0.0046	0.0008991	139	154602	rs148603378	0.0006	0.0006	0.0005	0.0007	0.0054	0.0006	0.0006	0.0039	0.0035	2.987e-05	0.0010	3.826e-05	0	0	0.0054	0.0003	0.0011	0.0040	0.0009	0.0009	0.0006	0.0012	0.0044	0.0008	0.0007	0.0036	0.0033	7.231e-05	0	0.0044	0	0	0	0.0068	0.0007	0	0.0035	0.027	0.46513	D	0.029	0.54541	D	0.754	0.43358	P	0.799	0.58136	P	0.000430	0.44522	D	0.000000	1	0.08975	N	1.01	0.25309	L	8.35	0.00252	T	-4.84	0.81030	D	0.272	0.30800	-0.9647	0.38270	T	0.001	0.00378	T	10	0.00906238	0.00205	T	0.001264	0.01708	T	0.173	0.43840	.	.	0.273938319068	0.27005	0.20960467408739974	0.20876	1.75556076404	0.91035	0.401213228703	0.25237	T	0.014316	0.12210	T	-0.37591	0.03305	T	-0.312342	0.43406	T	0.0768567777337901	0.09580	T	0.664534	0.27348	T	0.2927658	0.52249	0.32697365	0.58600	0.2927658	0.52248	0.32697365	0.58599	-6.911	0.53380	T	.	.	0.349	0.57205	A	.;.	.;.	3.436624	0.47789	22.5	0.99788957865371986	0.87484	0.11369	0.16588	N	AEFI	0.099693	0.20062	N	0.103229472828347	0.46613	2.899002	0.0114108903244044	0.40245	2.398666	5.8586254778041E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	1.219000	0.32083	1.788000	0.28774	0.733000	0.85838	0.003000	0.16062	0.000000	0.08366	0.845000	0.39915	0.7004:0.0:0.1071:0.1925	3.701	0.07914	791	0.46100	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2693.98	34	chr11	124038235	.	A	G	2693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.250e+00;DP=906;ExcessHet=0.0000;FS=1.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.25;MQRankSum=0.077;QD=12.53;ReadPosRankSum=0.295;SOR=0.824	GT:AD:DP:GQ:PL	0/1:115,100:215:99:2708,0,3319	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	0/1:11,5,0:16:99:177,0,447,210,462,672	3	7	5	0
chr12	4434279	4434279	C	T	exonic	FGF6	.	nonsynonymous SNV	FGF6:NM_020996:exon3:c.G563A:p.R188Q,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	1.0	D	0.99	D	0.000	D	1.000	D	1.775	L	1.47	T	-0.959	T	0.170	T	0.85	5.017	29.6	5.13	2.381	5.540	18.615	0.215	0.0456375896225	0.0025	0.000399361	0.0024	0.0008	0.0016	0	0.0030	0.0034	0	0.0010	0.002445	378	154602	rs71583765	0.0033	0.0033	0.0034	0.0032	0.0040	0.0032	0.0032	0.0039	0.0038	0.0006	0.0011	7.652e-05	5.038e-05	0.0020	0.0005	0.0040	0.0026	0.0010	0.0023	0.0023	0.0022	0.0024	0.0040	0.0021	0.0020	0.0036	0.0034	0.0007	0	0.0011	0	0	0.0017	0.0034	0.0040	0.0014	0.0019	0.012	0.54683	D	0.177	0.29740	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	1.47	0.31987	T	-1.85	0.43334	N	0.689	0.69474	-0.9588	0.39405	T	0.170	0.51101	T	10	0.041817218	0.02872	T	0.045638	0.62075	D	0.215	0.50805	.	.	0.715505070397	0.71301	0.5884965233508683	0.58779	0.878555102534	0.69670	0.540125072002	0.44462	T	0.540497	0.84258	D	-0.185027	0.22991	T	-0.0362209	0.67955	D	0.0407010599207231	0.03818	T	0.966303	0.87634	D	0.5367113	0.69211	0.3362318	0.59428	0.5367113	0.69213	0.3362318	0.59427	-6.404	0.49540	T	.	.	0.140	0.30582	B	.	.	5.134479	0.85931	28.8	0.99957160403085776	0.99981	0.96258	0.68266	D	AEFDBI	0.721225	0.67154	D	0.631312920820641	0.75164	6.257879	0.622580383452147	0.76585	6.517881	0.999999999999862	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.13	5.13	0.69729	5.835000	0.69073	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	18.615	0.91254	870	0.31527	.	.	.	.	.	.	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	0.02381	1766.98	33	chr12	4434279	.	C	T	1766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=856;ExcessHet=0.0000;FS=1.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.753e+00;SOR=0.594	GT:AD:DP:GQ:PL	0/1:84,71:155:99:1781,0,1943	20	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,32:75:99:.:.:407,0,473	3	0	18	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.236	N	1.000	N	-0.805	N	-0.1	T	-1.084	T	0.068	T	0.059	0.995	9.062	-3.92	-0.512	-0.125	0.780	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	304.11	40	chr12	4591262	.	T	C	304.11	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.075e+00;DP=1456;ExcessHet=1.7912;FS=131.276;InbreedingCoeff=-0.1677;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=1.08;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,22:75:84:.:.:84,0,1258	15	0	6	0
chr12	6450607	6450607	G	A	exonic	CD27	.	nonsynonymous SNV	CD27:NM_001242:exon4:c.G515A:p.R172Q,	Lymphoproliferative syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3081235	Lymphoproliferative_syndrome_2	MONDO:MONDO:0014054,MedGen:C3554540,OMIM:615122,Orphanet:238505	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.305	B	0.019	B	0.000	N	1.000	N	0.345	N	-3.37	D	-0.296	T	0.572	D	0.095	1.859	12.17	2.48	0.767	0.908	8.719	0.226	0.0396682984233	.	.	8.29e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs763988270	1.849e-05	1.915e-05	2.044e-05	1.652e-05	5.974e-05	1.266e-05	1.085e-05	1.377e-05	1.15e-05	5.974e-05	0	0	0	0	0	2.068e-05	3.313e-05	0	3.942e-05	3.94e-05	7.706e-05	0	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0.0005	0	0.475	0.08359	T	0.312	0.19599	T	0.305	0.32678	B	0.019	0.18783	B	0.000000	0.00162	N	54.432000	0.999905	0.19694	N	0	0.06538	N	-3.37	0.94114	D	0.47	0.03090	N	0.153	0.15749	-0.2957	0.75105	T	0.572	0.84512	D	10	0.09441373	0.16787	T	0.039668	0.58940	D	0.226	0.52472	.	.	0.88810752731	0.88700	0.2143644944392976	0.21352	0.230560478565	0.25603	0.224591434002	0.01592	T	0.220307	0.58355	T	-0.203137	0.20352	T	-0.347422	0.39500	T	0.0504432744631678	0.05577	T	0.380262	0.09172	T	0.050296616	0.09065	0.05334776	0.08968	0.050296616	0.09065	0.05334776	0.08968	-3.308	0.13841	T	0.12329539721391135	0.11929	0.081	0.08081	B	.	.	1.761422	0.22403	15.61	0.94054232214854261	0.24184	0.06586	0.12601	N	AEFDGBCI	0.102065	0.20484	N	-1.08696666152623	0.06882	0.3181163	-1.07829390339535	0.08128	0.3983131	0.99999612747562	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.78367	0.99111	0	0.605231	0.38476	0	.	.	3.39	2.48	0.29194	0.917000	0.28286	1.652000	0.27851	-0.177000	0.10537	0.001000	0.13787	0.002000	0.18203	0.005000	0.06747	0.0:0.7596:0.2404:0.0	8.719	0.33589	861	0.33516	.	.	.	.	.	.	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	0.02381	783.98	33	chr12	6450607	.	G	A	783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=788;ExcessHet=0.0000;FS=0.954;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-2.117e+00;SOR=0.559	GT:AD:DP:GQ:PL	0/1:39,28:67:99:798,0,1013	20	0	1	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,3,34,0,0:37:2:1421,1309,1370,108,0,2,1425,1347,112,1456,1425,1347,112,1456,1456	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,3,34,0,0:37:2:1421,1309,1370,108,0,2,1425,1347,112,1456,1425,1347,112,1456,1456	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,3,34,0,0:37:2:1421,1309,1370,108,0,2,1425,1347,112,1456,1425,1347,112,1456,1456	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,3,34,0,0:37:2:1421,1309,1370,108,0,2,1425,1347,112,1456,1425,1347,112,1456,1456	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/6:0,0,0,0,0,31,27:58:99:.:.:2306,2326,2422,2326,2422,2422,2326,2422,2422,2422,2326,2422,2422,2422,2422,1064,1077,1077,1077,1077,972,1251,1365,1365,1365,1365,0,1376	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/6:0,0,0,0,0,31,27:58:99:.:.:2306,2326,2422,2326,2422,2422,2326,2422,2422,2422,2326,2422,2422,2422,2422,1064,1077,1077,1077,1077,972,1251,1365,1365,1365,1365,0,1376	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/6:0,0,0,0,0,31,27:58:99:.:.:2306,2326,2422,2326,2422,2422,2326,2422,2422,2422,2326,2422,2422,2422,2422,1064,1077,1077,1077,1077,972,1251,1365,1365,1365,1365,0,1376	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/6:0,0,0,0,0,31,27:58:99:.:.:2306,2326,2422,2326,2422,2422,2326,2422,2422,2422,2326,2422,2422,2422,2422,1064,1077,1077,1077,1077,972,1251,1365,1365,1365,1365,0,1376	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/6:0,0,0,0,0,31,27:58:99:.:.:2306,2326,2422,2326,2422,2422,2326,2422,2422,2422,2326,2422,2422,2422,2422,1064,1077,1077,1077,1077,972,1251,1365,1365,1365,1365,0,1376	1	0	2	0
chr12	7817941	7817941	T	C	exonic	SLC2A14	.	nonsynonymous SNV	SLC2A14:NM_001286236:exon9:c.A907G:p.I303V	.	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.825	P	0.718	P	0.000	D	1.000	D	2.185	M	-0.97	T	-0.216	T	0.442	T	0.219	2.989	15.97	3.31	1.266	7.092	9.890	0.351	0.0231307422174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.055	0.50809	T	0.251	0.31212	B	0.23	0.40197	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.91	0.51138	L	-0.97	0.75670	T	-0.84	0.23372	N	0.582	0.64052	-0.2161	0.77255	T	0.442	0.77958	T	10	0.38526762	0.54493	T	0.023131	0.46073	T	0.351	0.67234	0.56	0.67958	0.255117706274	0.25116	0.18330615711488896	0.18249	1.68344626233	0.90033	0.751401364803	0.74652	T	0.075016	0.35078	T	-0.0254022	0.48080	T	-0.274265	0.47388	T	0.892181515693665	0.54324	D	0.533547	0.17787	T	0.2641694	0.49484	0.20542474	0.44711	0.2641694	0.49484	0.20542474	0.44710	-8.459	0.64482	D	.	.	0.240	0.51506	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.650284	0.51800	23.1	0.99836821718332469	0.91800	0.95438	0.64721	D	AEBI	0.731125	0.67830	D	0.154002575303243	0.49002	3.105566	0.15302120448109	0.47303	2.962488	0.112280246257419	0.16680	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.31	3.31	0.37025	6.987000	0.75976	7.815000	0.69558	0.341000	0.19778	1.000000	0.71638	1.000000	0.68203	0.740000	0.35438	0.0:0.0:0.0:1.0	9.890	0.40457	923	0.18507	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	847.98	38	chr12	7817941	.	T	C	847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.549e+00;DP=839;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.39;MQRankSum=0.686;QD=8.31;ReadPosRankSum=0.694;SOR=0.582	GT:AD:DP:GQ:PL	0/1:60,42:102:99:862,0,1619	20	0	1	0
chr12	9832369	9832369	G	A	exonic	KLRF1	.	nonsynonymous SNV	KLRF1:NM_001291822:exon2:c.G139A:p.V47M	.	.	446	1012	61	3	0	67	0.0320421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	B	0.033	B	0.722	N	1.000	N	0.55	N	4.79	T	-1.063	T	0.059	T	0.133	-2.679	0	-2.27	-0.970	-0.703	5.229	0.025	.	0.0028	0.00738818	0.0077	0.0007	0.0068	0	0.0005	0.0049	0.0078	0.0301	0.0068175	1054	154602	rs146460124	0.0046	0.0047	0.0036	0.0056	0.0321	0.0045	0.0045	0.0311	0.0307	0.0007	0.0060	0.0077	7.582e-05	0.0003	0.0205	0.0027	0.0055	0.0321	0.0039	0.0039	0.0036	0.0042	0.0327	0.0036	0.0035	0.0285	0.0270	0.0009	0.0011	0.0060	0.0081	0.0002	0.0004	0.0102	0.0038	0.0057	0.0327	0.175	0.25768	T	0.191	0.49120	T	0.113	0.26349	B	0.033	0.22329	B	0.722462	0.06322	N	1.214770	1	0.08975	N	0.805	0.20218	L	0.4	0.57261	T	-1.72	0.40850	N	0.161	0.22228	-1.0634	0.10926	T	0.059	0.24612	T	9	0.0059431195	0.00133	T	.	.	.	0.025	0.05312	.	.	0.171388866994	0.16791	0.2775677312493388	0.27669	.	.	0.29831263423	0.10151	T	0.02985	0.21296	T	-0.585658	0.00178	T	-0.591036	0.13576	T	0.000816321794284554	0.00008	T	0.69743	0.30707	T	.	.	.	.	.	.	.	.	-4.949	0.36281	T	.	.	0.098	0.20038	B	.;.;.;.;.	.;.;.;.;.	0.062193	0.04727	1.359	0.08633522959055194	0.00071	0.00566	0.02572	N	AEFBI	0.044400	0.07140	N	-1.68846938339769	0.00883	0.03823578	-1.7559330760471	0.00911	0.04075757	6.07512311615335E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.04	-2.27	0.06458	-0.693000	0.05222	-0.056000	0.12484	-1.591000	0.00906	0.003000	0.16062	0.005000	0.19230	0.025000	0.12405	0.296:0.2805:0.4235:0.0	5.229	0.14730	900	0.24599	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2074.68	34	chr12	9832369	.	G	A	2074.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.803;DP=806;ExcessHet=0.3300;FS=0.538;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.572;SOR=0.718	GT:AD:DP:GQ:PL	0/1:32,21:53:99:475,0,713	18	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.183	B	0.001	B	0.106	U	1.000	N	1.32	L	3.6	T	-0.962	T	0.014	T	0.144	0.202	5.089	-0.205	-0.048	0.062	4.703	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1985.55	50	chr12	10930916	.	C	T	1985.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.28;DP=1409;ExcessHet=2.5830;FS=8.734;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=40.94;MQRankSum=-1.380e-01;QD=3.16;ReadPosRankSum=-4.690e-01;SOR=1.815	GT:AD:DP:GQ:PL	0/1:73,22:95:99:429,0,2137	14	0	7	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	0/1:44,18,0:62:99:342,0,1515,474,1569,2043	4	3	11	0
chr12	11308825	11308825	G	T	exonic	PRB4	.	nonsynonymous SNV	PRB4:NM_001261399:exon3:c.C158A:p.P53H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.62	P	0.192	B	.	.	1.000	N	1.955	M	3.66	T	-1.017	T	0.013	T	0.201	-3.055	0.001	-1.24	-3.264	-3.724	.	0.038	0.000724737728306	.	.	8.342e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs145538331	0.0003	0.0091	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0005	0.0002	0.0007	0.0008	0.0004	0	0.0002	0.0005	3.579e-05	0.0008	0.0070	0.0008	0.0007	0.0013	0.0006	0.0006	0.0005	0.0005	0.0008	0	0.0009	0.0009	0.0007	0.0008	0	0.0006	0.0028	0.0013	0.086	0.32610	T	0.079	0.42086	T	0.62	0.39915	P	0.192	0.36449	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	-1.82	0.42763	N	0.189	0.24385	-1.0172	0.24625	T	0.013	0.04985	T	8	0.094213486	0.16733	T	7.25E-4	0.00472	T	0.038	0.09825	0.307	0.27806	0.0297737177859	0.01360	0.14867610920793883	0.14789	5.39720892046E-4	0.00050	.	.	.	0.009784	0.08886	T	-0.461542	0.00962	T	-0.717981	0.04894	T	0.0491737318569793	0.05354	T	0.30297	0.06003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.05103	B	.;.;.;.	.;.;.;.	-1.486722	0.00303	0.005	0.13684848466116051	0.00278	0.00057	0.00426	N	AEFBI	0.022063	0.01057	N	-1.78961807863172	0.00571	0.02459707	-2.02858908995553	0.00266	0.01174935	0.00233645441564733	0.09333	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.618	-1.24	0.08948	-3.359000	0.00553	-12.909000	0.00492	-10.517000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	669.11	254	chr12	11308825	.	G	T	669.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.380e-01;DP=4187;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.52;MQRankSum=-1.044e+01;QD=1.21;ReadPosRankSum=-6.039e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,31:325:99:0|1:11308808_C_T:351,0,11733:11308808	19	0	2	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,72,0:229:99:0|1:11353413_G_A:1605,0,5274,2056,5489,7545:11353413	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,36,0:153:99:0|1:11353413_G_A:1115,0,3255,1459,3363,4823:11353413	0	8	4	7
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE,	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:81,48,0:129:99:.:.:5003,216,0,5223,616,6831	8	3	1	7
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16788.62	201	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT,*	16788.62	.	AC=7,3;AF=0.250,0.107;AN=28;BaseQRankSum=1.66;DP=3976;ExcessHet=0.0004;FS=2.665;InbreedingCoeff=0.5485;MLEAC=9,4;MLEAF=0.321,0.143;MQ=53.86;MQRankSum=-5.862e+00;QD=19.17;ReadPosRankSum=-4.300e-01;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:81,48,0:129:99:.:.:5003,216,0,5223,616,6831	8	3	1	7
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD,	.	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	26110.08	283	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	26110.08	.	AC=8;AF=0.444;AN=18;BaseQRankSum=2.31;DP=5960;ExcessHet=0.0002;FS=4.944;InbreedingCoeff=0.1416;MLEAC=12;MLEAF=0.667;MQ=48.22;MQRankSum=-2.223e+00;QD=32.60;ReadPosRankSum=-2.244e+00;SOR=0.850	GT:AD:DP:GQ:PL	0/1:279,0:279:99:1158,0,3536	4	3	2	12
chr12	11353950	11353950	-	G	exonic	PRB1	.	frameshift insertion	PRB1:NM_001367912:exon5:c.1138dupC:p.H380fs,	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0	0.0002	0	0.0008	0.0001876	29	154602	rs763410099	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0006	0.0005	3.119e-05	0.0005	0.0018	0	0	0.0011	0.0001	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0004	0.0003	0	0	7.042e-05	0.0027	0	0	0	0.0002	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4223.94	233	chr12	11353950	.	T	TG	4223.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.870e-01;DP=4623;ExcessHet=0.0000;FS=0.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.64;MQRankSum=-2.261e+00;QD=20.31;ReadPosRankSum=1.78;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,109:208:99:0|1:11353950_T_TG:4238,0,3700:11353950	20	0	1	0
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	734.67	33	chr12	12477735	.	C	T,*	734.67	.	AC=1,4;AF=0.025,0.100;AN=40;BaseQRankSum=3.48;DP=1239;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,4;MLEAF=0.025,0.100;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=-1.694e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/1:36,25,0:61:99:748,0,991,856,1066,1922	15	0	1	1
chr12	15623230	15623230	A	C	exonic	EPS8	.	nonsynonymous SNV	EPS8:NM_004447:exon20:c.T2283G:p.D761E,	.	.	429	1062	30	1	0	32	0.0148423	.	.	490923	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.000	D	0.977	D	0.27	N	2.36	T	-0.977	T	0.012	T	0.239	0.748	7.966	1.88	0.445	0.214	6.504	0.155	.	0.0082	0.00439297	0.0074	0.0019	0.0047	0	0.0029	0.0098	0.0143	0.0082	0.0075161	1162	154602	rs7137185	0.0080	0.0080	0.0079	0.0081	0.0135	0.0079	0.0078	0.0111	0.0102	0.0010	0.0060	0.0260	5.041e-05	0.0022	0.0135	0.0084	0.0086	0.0077	0.0075	0.0075	0.0076	0.0073	0.0143	0.0071	0.0070	0.0128	0.0122	0.0012	0	0.0143	0.0297	0	0.0022	0.0204	0.0101	0.0113	0.0056	0.986	0.01983	T	0.515	0.10643	T	0.0	0.02946	B	0.002	0.06944	B	0.000017	0.62929	D	0.115379	0.977317	0.39355	D	0.325	0.10370	N	2.36	0.16089	T	0.15	0.09627	N	0.216	0.24260	-0.9773	0.35616	T	0.012	0.04558	T	10	0.0072618723	0.00165	T	.	.	.	0.155	0.40530	0.18	0.08751	0.308613300994	0.30479	0.2388080668406352	0.23794	0.111004502132	0.12528	0.558008611202	0.46987	T	0.111475	0.42699	T	-0.590975	0.00165	T	-0.611283	0.11880	T	0.00587593604112053	0.00064	T	0.525248	0.17252	T	0.04191001	0.06258	0.0510109	0.08121	0.047650933	0.08181	0.05434136	0.09329	-3.442	0.20401	T	0.08190025938125492	0.04275	0.083	0.12985	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.446653	0.08165	4.901	0.84873376288101132	0.15548	0.68783	0.33933	D	AEFBI	0.222442	0.34693	N	-0.645784753255822	0.17584	0.906024	-0.444027505788956	0.23718	1.29495	0.999717920804811	0.42101	0.706298	0.61202	0	0.588015	0.36545	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.66	1.88	0.24630	0.221000	0.17463	-0.241000	0.10591	-0.048000	0.17318	0.973000	0.34540	0.001000	0.17328	0.992000	0.67800	0.6364:0.2123:0.1513:0.0	6.504	0.21383	796	0.45353	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1280.98	36	chr12	15623230	.	A	C	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.851;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=1.67;SOR=0.641	GT:AD:DP:GQ:PL	0/1:66,53:119:99:1295,0,1662	20	0	1	0
chr12	20369580	20369580	A	C	exonic	PDE3A	.	nonsynonymous SNV	PDE3A:NM_000921:exon1:c.A296C:p.E99A	Hypertension and brachydactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	702269	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.0	B	0.0	B	0.504	N	0.998	N	-0.55	N	-0.08	T	-1.024	T	0.081	T	0.206	-0.810	0.650	-2.76	-0.004	0.470	8.556	0.074	0.106067165317	0.0029	0.00319489	0.0023	0.0060	0.0015	0.0022	0.0054	0.0038	0	0	0.0015653	242	154602	rs201132768	0.0035	0.0035	0.0036	0.0034	0.0071	0.0034	0.0034	0.0064	0.0061	0.0071	0.0027	0.0039	0.0002	0.0022	0.0009	0.0038	0.0034	0.0004	0.0046	0.0046	0.0048	0.0044	0.0078	0.0043	0.0042	0.0071	0.0068	0.0078	0	0.0044	0.0037	0.0002	0.0030	0.0034	0.0036	0.0057	0.0010	0.513	0.07425	T	0.2	0.27591	T	0.0	0.02946	B	0.0	0.01387	B	0.503612	0.05107	N	1.329880	0.998348	0.22212	N	0.205	0.09354	N	-0.08	0.63911	T	-0.6	0.17834	N	0.213	0.23758	-1.0240	0.22410	T	0.081	0.31884	T	10	0.006219268	0.00140	T	0.106067	0.78149	D	0.074	0.21613	.	.	0.376570364461	0.37271	0.38407859922579796	0.38322	0.913928028628	0.71167	0.70104598999	0.67295	T	0.097943	0.40127	T	-0.513278	0.00481	T	-0.50578	0.21750	T	0.000436209368915096	0.00003	T	0.437256	0.12012	T	0.037471022	0.04808	0.03877445	0.03821	0.037471022	0.04808	0.03877445	0.03820	-2.513	0.05870	T	.	.	0.065	0.01909	B	.	.	1.416312	0.18325	13.67	0.56566837656234181	0.05580	0.29893	0.23941	N	ALL	0.058204	0.10904	N	-1.10709861337959	0.06516	0.3001593	-0.981693475939164	0.10196	0.5120245	0.999999986813248	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	4.3	-2.76	0.05547	0.140000	0.15877	-0.254000	0.10482	0.750000	0.87069	0.536000	0.27236	0.019000	0.20708	0.989000	0.64315	0.4411:0.4726:0.0863:0.0	8.556	0.32644	972	0.05671	.	.	.	.	.	.	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	0.02381	1045.98	41	chr12	20369580	.	A	C	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.740e-01;DP=852;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=1.30;SOR=0.525	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1060,0,953	20	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.374	B	0.326	B	0.000	D	1.000	D	0.86	L	-0.89	T	-0.602	T	0.322	T	0.754	2.842	15.47	5.39	2.533	4.151	19.172	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,23,0:45:99:.:.:188,0,221,246,281,527	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,23,0:45:99:.:.:188,0,221,246,281,527	2	0	14	4
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	33722.39	1039	chr12	40482890	.	T	A,*	33722.39	.	AC=5,6;AF=0.208,0.250;AN=24;BaseQRankSum=0.827;DP=22349;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.5849;MLEAC=7,8;MLEAF=0.292,0.333;MQ=57.60;MQRankSum=-2.364e+01;QD=2.90;ReadPosRankSum=3.73;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:807,308,0:1115:99:0|1:40482890_T_A:8525,0,31043,10952,31938,42890:40482890	1	0	5	9
chr12	40482935	40483114	GACCATCAGCTGGAGTGACAAGGACAACTGGACTGTCAGCTGGAGAGACAGGGACAACTGGACTATCACCTGGAGTGACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAAACAGGACTATCAGCTGGGGTGACAGGGAAAACTGGACTGTCAGCTGAAGTGACAGGGACAACTA	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	.	.	0	.	.	.	.	.	.	0	3.429e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.301e-05	0.0021	0	6.755e-05	0.0003	1.265e-05	8.01e-06	8.914e-05	5.411e-05	0	0	0.0003	0	0	9.482e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	873.05	1036	chr12	40482934	.	GGACCATCAGCTGGAGTGACAAGGACAACTGGACTGTCAGCTGGAGAGACAGGGACAACTGGACTATCACCTGGAGTGACAAGGACAACAAGATCATCAGCTGGGCTAACAGGGAAAACAGGACTATCAGCTGGGGTGACAGGGAAAACTGGACTGTCAGCTGAAGTGACAGGGACAACTA	G	873.05	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.079;DP=20870;ExcessHet=0.0000;FS=2.252;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=59.10;MQRankSum=-3.357e+01;QD=0.42;ReadPosRankSum=-7.735e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1912,170:2082:99:0|1:40482890_T_A:886,0,78418:40482890	17	0	1	3
chr12	40482938	40482938	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	12831.45	1036	chr12	40482938	.	C	T,*	12831.45	.	AC=5,1;AF=0.156,0.031;AN=32;BaseQRankSum=1.18;DP=20058;ExcessHet=1.7912;FS=0.805;InbreedingCoeff=-0.2537;MLEAC=6,1;MLEAF=0.188,0.031;MQ=58.43;MQRankSum=-2.514e+01;QD=1.97;ReadPosRankSum=-3.109e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:885,7,150:1042:99:0|1:40482938_C_*:3343,5718,42899,0,36866,36720:40482938	10	0	5	5
chr12	40482955	40482955	A	0	exonic	MUC19	.	.	.	.	.	0	184	40	0	2	42	0.0980392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8116.75	1036	chr12	40482955	.	A	G,*	8116.75	.	AC=4,1;AF=0.133,0.033;AN=30;BaseQRankSum=1.89;DP=20287;ExcessHet=1.1607;FS=1.921;InbreedingCoeff=-0.2353;MLEAC=5,1;MLEAF=0.167,0.033;MQ=58.54;MQRankSum=-2.480e+01;QD=1.41;ReadPosRankSum=-6.790e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:902,6,150:1058:99:0|1:40482938_C_*:3292,5760,43658,0,37621,37434:40482938	10	0	4	6
chr12	40482969	40482969	G	0	exonic	MUC19	.	.	.	.	.	574	886	55	0	7	62	0.030104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	7015.48	1036	chr12	40482969	.	G	A,*	7015.48	.	AC=1,1;AF=0.033,0.033;AN=30;BaseQRankSum=4.01;DP=19695;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1355;MLEAC=1,1;MLEAF=0.033,0.033;MQ=57.84;MQRankSum=-2.493e+01;QD=3.11;ReadPosRankSum=-6.896e+00;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:912,6,150:1068:99:0|1:40482938_C_*:3262,5760,44077,0,38041,37854:40482938	13	0	1	6
chr12	40482986	40482986	-	GT	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	241.11	1036	chr12	40482986	.	G	GGT,*	241.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=5.40;DP=19249;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.21;MQRankSum=-2.735e+01;QD=0.10;ReadPosRankSum=-8.651e+00;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1004,0,150:1160:99:0|1:40482938_C_*:2985,6012,48188,0,42157,41717:40482938	16	0	1	3
chr12	40482986	40482986	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	241.11	1036	chr12	40482986	.	G	GGT,*	241.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=5.40;DP=19249;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.21;MQRankSum=-2.735e+01;QD=0.10;ReadPosRankSum=-8.651e+00;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1004,0,150:1160:99:0|1:40482938_C_*:2985,6012,48188,0,42157,41717:40482938	16	0	1	3
chr12	40482991	40482994	ACTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1611.11	1036	chr12	40482990	.	AACTG	A,*	1611.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=9.31;DP=19232;ExcessHet=0.1072;FS=0.939;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.56;MQRankSum=-2.870e+01;QD=0.69;ReadPosRankSum=-8.296e+00;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1004,0,150:1160:99:0|1:40482938_C_*:2985,6012,48188,0,42157,41717:40482938	16	0	1	3
chr12	40482990	40482994	AACTG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1611.11	1036	chr12	40482990	.	AACTG	A,*	1611.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=9.31;DP=19232;ExcessHet=0.1072;FS=0.939;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.56;MQRankSum=-2.870e+01;QD=0.69;ReadPosRankSum=-8.296e+00;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1004,0,150:1160:99:0|1:40482938_C_*:2985,6012,48188,0,42157,41717:40482938	16	0	1	3
chr12	40482997	40483006	CTATCACCTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1147.11	1036	chr12	40482996	.	ACTATCACCTG	A,*	1147.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=10.49;DP=19149;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.62;MQRankSum=-2.957e+01;QD=0.51;ReadPosRankSum=-8.542e+00;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:918,0,150:1073:99:0|1:40482938_C_*:3244,6012,44577,0,38546,38106:40482938	16	0	1	3
chr12	40482996	40483006	ACTATCACCTG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1147.11	1036	chr12	40482996	.	ACTATCACCTG	A,*	1147.11	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=10.49;DP=19149;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=1,1;MLEAF=0.028,0.028;MQ=58.62;MQRankSum=-2.957e+01;QD=0.51;ReadPosRankSum=-8.542e+00;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:918,0,150:1073:99:0|1:40482938_C_*:3244,6012,44577,0,38546,38106:40482938	16	0	1	3
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/2:4,870,144:1018:99:31330,5766,3323,27342,0,36854	1	12	6	0
chr12	40483053	40483053	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	982.58	934	chr12	40483053	.	A	*,T	982.58	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.58;DP=18262;ExcessHet=0.1072;FS=0.764;InbreedingCoeff=-0.1053;MLEAC=1,1;MLEAF=0.029,0.029;MQ=58.64;MQRankSum=-1.637e+01;QD=0.45;ReadPosRankSum=-1.192e+01;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:959,144,0:1107:99:0|1:40482938_C_*:3110,0,39835,6002,40268,46290:40482938	15	0	1	4
chr12	40483053	40483053	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0	0	.	.	.	0	.	.	0.0007684	20	26028	rs111971648	0.0002	0.0001	0.0003	0.0002	0.0103	0.0002	0.0002	0.0090	0.0085	0.0103	0	0	0	0	0	9.282e-06	0.0009	0	0.0028	0.0029	0.0029	0.0027	0.0098	0.0026	0.0025	0.0090	0.0087	0.0098	0	0.0011	0	0	0	0	0	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.05882	982.58	934	chr12	40483053	.	A	*,T	982.58	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=1.58;DP=18262;ExcessHet=0.1072;FS=0.764;InbreedingCoeff=-0.1053;MLEAC=1,1;MLEAF=0.029,0.029;MQ=58.64;MQRankSum=-1.637e+01;QD=0.45;ReadPosRankSum=-1.192e+01;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:959,144,0:1107:99:0|1:40482938_C_*:3110,0,39835,6002,40268,46290:40482938	15	0	1	4
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	1/2:5,839,144:988:99:31226,5736,3393,27086,0,35878	4	9	7	0
chr12	40483097	40483127	AAGTGACAGGGACAACTAGACTATCAGCTGG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	53348.35	934	chr12	40483097	.	AAGTGACAGGGACAACTAGACTATCAGCTGG	*,A	53348.35	.	AC=1,4;AF=0.028,0.111;AN=36;BaseQRankSum=3.48;DP=17275;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.1809;MLEAC=1,4;MLEAF=0.028,0.111;MQ=59.58;MQRankSum=0.00;QD=15.51;ReadPosRankSum=0.406;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:865,144,0:1009:99:0|1:40482938_C_*:3393,0,35888,6002,36321,42343:40482938	14	0	1	3
chr12	40486373	40486373	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	539	977	6	0	0	6	0.00306122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016521	43	26028	rs12820756	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0007	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0009	0	0.0005	0.0009	0	0.0001	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.09091	690.58	663	chr12	40486373	.	A	C	690.58	.	AC=2;AF=0.091;AN=22;BaseQRankSum=2.88;DP=19211;ExcessHet=0.1072;FS=23.712;InbreedingCoeff=-0.2000;MLEAC=3;MLEAF=0.136;MQ=58.66;MQRankSum=-2.906e+01;QD=0.37;ReadPosRankSum=-7.903e+00;SOR=3.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:802,68:872:99:.:.:442,0,33087	9	0	2	10
chr12	40486382	40486382	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	535	985	2	0	0	2	0.0010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013063	34	26028	rs12818645	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0028	0.0005	0.0006	0.0012	0.0004	0.0004	0.0008	0.0007	0.0012	0	0.0009	0	0	0.0005	0	9.407e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1154	1950.09	663	chr12	40486382	.	G	A	1950.09	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.23;DP=19353;ExcessHet=0.3300;FS=26.737;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=58.58;MQRankSum=-3.039e+01;QD=0.68;ReadPosRankSum=-7.238e+00;SOR=4.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:840,81:921:99:0|1:40486382_G_A:873,0,34898:40486382	10	0	3	8
chr12	40486392	40486392	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	983	3	0	0	3	0.00152362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs1449620235	0	1.779e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0009	0.0036	0.0007	0.0010	0.0018	0.0007	0.0006	0.0011	0.0010	0.0015	0	0.0018	0.0015	0	0.0012	0	0.0002	0.0012	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1154	4295.09	663	chr12	40486392	.	G	A	4295.09	.	AC=3;AF=0.115;AN=26;BaseQRankSum=8.61;DP=19792;ExcessHet=0.3300;FS=37.643;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=58.24;MQRankSum=-3.023e+01;QD=1.50;ReadPosRankSum=-5.598e+00;SOR=4.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:855,98:953:99:0|1:40486382_G_A:1541,0,35606:40486382	10	0	3	8
chr12	40486395	40486395	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	537	982	3	0	0	3	0.00152517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1172464658	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0011	0.0038	0.0009	0.0012	0.0019	0.0009	0.0008	0.0013	0.0012	0.0018	0	0.0019	0.0016	0	0.0017	0	0.0003	0.0013	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1154	5288.15	663	chr12	40486395	.	C	G	5288.15	.	AC=3;AF=0.115;AN=26;BaseQRankSum=6.92;DP=20196;ExcessHet=0.3300;FS=37.606;InbreedingCoeff=-0.2011;MLEAC=4;MLEAF=0.154;MQ=58.09;MQRankSum=-3.008e+01;QD=1.84;ReadPosRankSum=-4.739e+00;SOR=4.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:854,106:960:99:0|1:40486382_G_A:1868,0,35540:40486382	10	0	3	8
chr12	40486396	40486396	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	982	1	0	3	4	0.000508906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1212954565	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0010	0.0036	0.0009	0.0012	0.0018	0.0008	0.0007	0.0013	0.0011	0.0017	0	0.0018	0.0015	0	0.0015	0	0.0003	0.0011	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1154	5934.02	663	chr12	40486396	.	A	T	5934.02	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.09;DP=20207;ExcessHet=0.3300;FS=33.389;InbreedingCoeff=-0.2000;MLEAC=4;MLEAF=0.154;MQ=57.99;MQRankSum=-3.010e+01;QD=2.07;ReadPosRankSum=-4.404e+00;SOR=3.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:857,110:967:99:0|1:40486382_G_A:2014,0,35654:40486382	10	0	3	8
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	8717.76	817	chr12	40486405	.	G	A,GCTAGGGTGACAGAGAGTACTGGACTA	8717.76	.	AC=4,1;AF=0.222,0.056;AN=18;BaseQRankSum=4.98;DP=21353;ExcessHet=1.1607;FS=43.706;InbreedingCoeff=-0.3381;MLEAC=6,2;MLEAF=0.333,0.111;MQ=57.88;MQRankSum=-2.929e+01;QD=2.24;ReadPosRankSum=-4.094e+00;SOR=4.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:867,130,0:997:99:0|1:40486382_G_A:2849,0,36014,5459,36405,41864:40486382	4	0	4	12
chr12	40487194	40487194	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs77457259	2.408e-06	0.0002	0	5.212e-06	0.0010	4e-07	1.5e-07	.	.	0	0.0010	0	0	0	0	1.316e-06	0	0	7.225e-06	0.0012	0	1.487e-05	1.611e-05	0	0	.	.	0	0	0	0	0	0	0	1.611e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02941	1666.53	844	chr12	40487194	.	G	A	1666.53	.	AC=1;AF=0.029;AN=34;BaseQRankSum=9.23;DP=22918;ExcessHet=0.0000;FS=3.056;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=57.32;MQRankSum=-3.054e+01;QD=1.76;ReadPosRankSum=-6.060e-01;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:847,101:948:99:0|1:40487178_T_C:1679,0,35261:40487178	16	0	1	4
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,893,0,0:893:99:1|1:40488224_A_G:36218,2684,0,36218,2684,36218,36218,2684,36218,36218:40488224	3	6	5	3
chr12	40510221	40510221	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	551	928	43	0	0	43	0.0226435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0015977	247	154602	rs11176952	0.0106	0.0063	0.0104	0.0109	0.0204	0.0104	0.0103	0.0186	0.0179	0.0015	0.0040	0.0037	0.0003	0.0016	0.0148	0.0110	0.0073	0.0204	0.0073	0.0073	0.0079	0.0067	0.0162	0.0070	0.0068	0.0133	0.0122	0.0022	0.0899	0.0027	0.0037	0	0.0015	0.0170	0.0114	0.0062	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	825.98	35	chr12	40510221	.	C	T	825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=799;ExcessHet=0.0000;FS=0.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-2.069e+00;SOR=0.507	GT:AD:DP:GQ:PL	0/1:42,34:76:99:840,0,1003	20	0	1	0
chr12	42119164	42119164	-	TCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	exonic	GXYLT1	.	stopgain	GXYLT1:NM_001099650:exon2:c.228_229insGAGAGGCGCTGGCAGCGCGGGCCCTGTGGCGCATTCCGGCGGGTGGGACAGGTGTAGA:p.L77Efs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	8.664e-05	0.0002	0	0.0002	0	0.0006	.	.	.	.	0.0031	0.0089	0.0017	0.0045	0.0063	0.0030	0.0030	0.0058	0.0057	0.0019	0.0024	0.0017	0.0037	0.0019	0.0011	0.0030	0.0031	0.0063	4.643e-05	0.0019	2.593e-05	6.791e-05	7.298e-05	2.127e-05	1.538e-05	1.935e-05	1.036e-05	7.298e-05	0	0	0	0	9.527e-05	0	4.454e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	376.92	74	chr12	42119164	.	G	GTCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	376.92	.	AC=3;AF=0.075;AN=40;BaseQRankSum=0.510;DP=1495;ExcessHet=0.3476;FS=54.228;InbreedingCoeff=-0.0699;MLEAC=2;MLEAF=0.050;MQ=57.56;MQRankSum=-7.410e+00;QD=1.58;ReadPosRankSum=-1.690e+00;SOR=5.900	GT:AD:DP:GQ:PL	0/1:84,9:93:99:124,0,3412	17	0	3	1
chr12	45439818	45439818	C	G	exonic	ANO6	.	nonsynonymous SNV	ANO6:NM_001142679:exon20:c.C2670G:p.D890E,	Scott syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	.	.	1.000	N	0	N	-0.55	T	-1.047	T	0.119	T	0.035	0.562	7.039	-2.23	-0.648	-1.249	3.396	0.038	0.00974770263844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0039	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	4.069e-05	5.662e-05	0	0	0.0003	0.0002	9.079e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.55	0.71068	T	0.72	0.02099	N	0.103	0.08646	-1.0467	0.15332	T	0.119	0.41735	T	9	0.040973663	0.02713	T	0.009748	0.25449	T	0.038	0.09825	0.297	0.26202	0.221734844693	0.21761	.	.	.	.	.	.	.	.	.	.	-0.252914	0.13744	T	-0.60107	0.12721	T	0.0346802229247811	0.02754	T	0.192181	0.02062	T	.	.	.	.	.	.	.	.	-3.694	0.19230	T	.	.	0.159	0.35247	B	.	.	0.313626	0.06887	3.422	0.42230997187820268	0.03099	0.00592	0.02653	N	AEFBI	0.026279	0.01945	N	-1.72133448649868	0.00769	0.03320854	-1.77678337462465	0.00836	0.03736014	0.867500058919336	0.25347	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.22	-2.23	0.06539	-0.913000	0.04150	-2.612000	0.03549	-0.585000	0.04679	0.000000	0.06391	0.000000	0.08366	0.513000	0.29313	0.0:0.3519:0.2105:0.4377	3.396	0.06880	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	480.11	138	chr12	45439818	.	C	G	480.11	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.045e+00;DP=1884;ExcessHet=0.3300;FS=215.676;InbreedingCoeff=-0.0848;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=3.46;SOR=10.597	GT:AD:DP:GQ:PL	0/1:151,30:181:59:59,0,3105	18	0	3	0
chr12	49797342	49797342	G	A	exonic	NCKAP5L	.	nonsynonymous SNV	NCKAP5L:NM_001037806:exon8:c.C518T:p.P173L	.	.	405	1113	4	0	0	4	0.00179372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.002	B	.	.	0.870	N	0	N	0.86	T	-1.049	T	0.061	T	0.184	1.513	11.01	3.19	1.015	1.304	4.359	0.049	0.0167115053929	.	0.00119808	0.0008	0.0001	0	0	0	0.0005	0.0014	0.0032	0.0005369	83	154602	rs569641492	0.0003	0.0003	0.0002	0.0004	0.0023	0.0003	0.0002	0.0020	0.0019	2.989e-05	4.484e-05	0.0028	2.519e-05	1.914e-05	0.0018	8.097e-05	0.0004	0.0023	0.0002	0.0002	0.0002	0.0001	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0	0.0029	0	0	0	7.353e-05	0.0009	0.0019	0.005	0.63226	D	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	0.870105	0.28220	N	.	.	.	0.86	0.46777	T	-1.32	0.32991	N	0.235	0.26475	-1.0487	0.14761	T	0.061	0.25310	T	9	0.007937312	0.00180	T	0.016712	0.38094	T	0.049	0.13647	.	.	0.0934897674506	0.08844	0.4862114763229234	0.48541	0.0817337950663	0.09202	0.579079866409	0.49955	T	.	.	.	-0.534607	0.00361	T	-0.546251	0.17687	T	0.034434857435904	0.02711	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10352	B	.	.	1.694139	0.21581	15.26	0.86906148450138743	0.16854	0.80666	0.40245	D	AEFDGBI	0.107275	0.21378	N	-0.485533920443049	0.22555	1.20512	-0.341040248936727	0.26787	1.481902	0.999996422134219	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	3.19	0.35720	1.795000	0.38418	0.710000	0.20927	-0.710000	0.03952	0.992000	0.37556	0.996000	0.32793	0.029000	0.12982	0.1983:0.0:0.621:0.1807	4.359	0.10628	336	0.86165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1900.08	41	chr12	49797342	.	G	A	1900.08	.	AC=2;AF=0.048;AN=42;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.15;SOR=1.292	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1928,183,0	20	1	0	0
chr12	50351445	50351445	C	G	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.G5387C:p.R1796P,	.	.	405	1116	1	0	0	1	0.000447828	.	.	2200410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.95	T	-0.926	T	0.012	T	0.13	-0.158	3.228	1.4	0.163	1.180	4.256	0.017	0.0164343207537	.	.	0.0003	0.0011	0	0	0	0.0002	0	0	1.94e-05	3	154602	rs757634083	4.778e-05	4.583e-05	5.178e-05	4.358e-05	0.0010	3.817e-05	3.469e-05	0.0007	0.0006	0.0003	0.0010	0	0	0	0.0004	2.298e-05	7.347e-05	4.696e-05	0.0004	0.0004	0.0003	0.0005	0.0024	0.0003	0.0003	0.0018	0.0015	0.0006	0	0.0024	0	0	0	0	1.471e-05	0	0	0.402	0.10412	T	0.178	0.29639	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.625	0.02162	N	2.95	0.09635	T	0.42	0.03579	N	0.094	0.07398	-0.9262	0.44688	T	0.012	0.04747	T	9	0.008940399	0.00202	T	0.016434	0.37682	T	0.017	0.02790	.	.	0.0716867268079	0.06686	0.07811608282484019	0.07747	.	.	0.232401847839	0.02150	T	0.00533	0.04780	T	-0.646538	0.00076	T	-0.731563	0.04257	T	0.00612034785864616	0.00068	T	0.325467	0.07848	T	0.07035664	0.15490	0.07419596	0.16205	0.07035664	0.15490	0.07419596	0.16204	0.445	0.00224	T	.	.	0.093	0.19073	B	.;.	.;.	0.096702	0.04991	1.550	0.60279639117749695	0.06425	0.00037	0.00318	N	AEFDGBI	.	.	.	-1.24110700195495	0.04418	0.1993517	-1.21910486980429	0.05603	0.2674323	0.999649310345723	0.41316	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.41	1.4	0.21393	1.025000	0.29695	0.862000	0.22237	-2.190000	0.00359	0.022000	0.19841	0.071000	0.22219	0.001000	0.02609	0.0932:0.1637:0.5879:0.1552	4.256	0.10169	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	767.98	76	chr12	50351445	.	C	G	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.44;DP=1338;ExcessHet=0.0000;FS=0.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=-3.900e-02;SOR=0.925	GT:AD:DP:GQ:PL	0/1:46,28:74:99:782,0,1195	20	0	1	0
chr12	50466962	50466962	C	G	exonic	LARP4	.	nonsynonymous SNV	LARP4:NM_001170803:exon11:c.C961G:p.P321A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.748	P	0.364	B	0.000	D	1.000	N	1.655	L	1.44	T	-1.057	T	0.051	T	0.202	1.308	10.28	-0.057	-0.114	2.447	2.491	0.117	0.0072584458573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.259	0.34959	T	0.415	0.43202	B	0.361	0.43306	B	0.000004	0.62929	D	0.106321	0.999575	0.47641	D	2.24	0.63355	M	1.44	0.32722	T	-3.65	0.73893	D	0.248	0.29659	-1.0574	0.12414	T	0.051	0.21495	T	10	0.09370801	0.16605	T	0.007258	0.19253	T	0.117	0.32689	0.232	0.16005	0.309943084671	0.30607	0.22762107059712555	0.22677	0.344505611829	0.36384	0.428053796291	0.28942	T	0.161029	0.50511	T	-0.181804	0.23467	T	-0.498925	0.22459	T	0.475608140230179	0.31737	T	0.741226	0.62289	T	0.08077547	0.18526	0.10012989	0.23930	0.08077547	0.18525	0.10012989	0.23929	-3.75	0.25364	T	.	.	0.075	0.15341	B	.;.;.;.;.;.	.;.;.;.;.;.	1.600655	0.20464	14.76	0.8532034865831214	0.15820	0.97460	0.74892	D	AEFBI	0.346928	0.44158	N	-0.758492038502958	0.14404	0.7172059	-0.733631669229592	0.16126	0.8515599	0.00358858330943809	0.10188	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.99	-0.0567	0.13135	2.648000	0.46313	1.349000	0.25794	-0.852000	0.02700	1.000000	0.71638	1.000000	0.68203	0.598000	0.31338	0.1176:0.5081:0.1142:0.2601	2.491	0.04329	249	0.90233	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	42.12	20	chr12	50466962	.	C	G	42.12	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.242e+00;DP=716;ExcessHet=0.0000;FS=19.352;InbreedingCoeff=-0.0650;MLEAC=1;MLEAF=0.028;MQ=59.36;MQRankSum=0.00;QD=1.36;ReadPosRankSum=-1.002e+00;SOR=4.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,9:31:55:0|1:50466961_A_G:55,0,404:50466961	17	0	1	3
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,13,0:86:99:0|1:52949249_G_A:326,0,3026,546,3065,3611:52949249	0	0	20	0
chr12	53059286	53059286	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.G1675A:p.G559R	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.977	D	0.003	N	1.000	D	0.725	N	-3.57	D	0.860	D	0.824	D	0.56	3.894	19.80	4.63	2.300	4.446	15.357	0.569	0.899732061944	0.0003	0.000199681	0.0002	0.0020	0	0	0	9.926e-05	0	0	9.06e-05	14	154602	rs200956695	9.899e-05	9.782e-05	9.088e-05	0.0001	0.0019	8.502e-05	8.002e-05	0.0015	0.0014	0.0019	3.906e-05	0	0	0	0	6.46e-05	0.0001	0	0.0005	0.0005	0.0006	0.0004	0.0016	0.0004	0.0003	0.0013	0.0012	0.0016	0	6.643e-05	0	0	9.573e-05	0	0	0.0010	0	0.001	0.78490	D	0.014	0.72224	D	1.0	0.90584	D	0.967	0.73820	D	0.002606	0.36243	N	0.220591	0.998457	0.50061	D	.	.	.	-3.61	0.95043	D	-3.2	0.64710	D	0.444	0.59732	0.860	0.95155	D	0.824	0.94093	D	10	0.13169333	0.25064	T	0.899732	0.99244	D	0.569	0.82460	0.36	0.36385	0.600208187352	0.59702	0.5746472143276707	0.57393	0.875910447209	0.69566	0.829423666	0.86473	D	0.649244	0.89336	D	-0.113699	0.34157	T	0.0392756	0.72881	D	0.0848987113505689	0.10602	T	0.934407	0.75457	D	0.24548915	0.47508	0.44222352	0.67480	0.24548915	0.47508	0.44222352	0.67480	-7.356	0.61316	T	.	.	0.346	0.57536	A	.;.;.;.;.;.	.;.;.;.;.;.	4.091599	0.60938	24.3	0.99910388641662129	0.98022	0.81448	0.40849	D	AEFDBCI	0.625844	0.60889	D	0.485307998021628	0.66231	4.923571	0.486133867089354	0.67072	5.035109	0.999999977244755	0.74766	0.460665	0.09802	0	0.514364	0.08380	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.63	4.63	0.57175	3.456000	0.52764	9.732000	0.81403	0.674000	0.70861	0.997000	0.40164	1.000000	0.68203	0.346000	0.25568	0.0:0.0:1.0:0.0	15.357	0.74148	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	731.98	44	chr12	53059286	.	G	A	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.410e-01;DP=793;ExcessHet=0.0000;FS=2.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=2.04;SOR=0.577	GT:AD:DP:GQ:PL	0/1:27,33:60:99:746,0,608	20	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.991	D	0.000	D	1.000	D	0.89	L	-0.52	T	-0.552	T	0.368	T	0.759	4.080	21.0	5.02	2.496	2.102	16.201	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	972.57	59	chr12	54363394	.	G	A	972.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.390e+00;DP=1918;ExcessHet=6.1002;FS=237.561;InbreedingCoeff=-0.4326;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=0.851;SOR=11.822	GT:AD:DP:GQ:PL	0/1:71,26:97:26:26,0,1255	6	0	10	5
chr12	55321080	55321080	C	T	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.C481T:p.L161F,	.	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.003	B	0.02	B	0.240	N	1.000	N	1.25	L	8.69	T	-1.065	T	0.000	T	0.053	-0.911	0.416	-2.37	-0.079	-0.808	7.513	0.020	.	0.0071	0.00359425	0.0018	0.0200	0.0005	0	0	3.033e-05	0.0022	0	0.0016235	251	154602	rs77291764	0.0005	0.0005	0.0006	0.0004	0.0190	0.0005	0.0005	0.0178	0.0173	0.0190	0.0005	0	0	0	0.0019	3.329e-05	0.0013	4.639e-05	0.0054	0.0054	0.0059	0.0049	0.0190	0.0051	0.0050	0.0179	0.0174	0.0190	0	0.0012	0	0	0	0	7.351e-05	0.0047	0	0.755	0.03533	T	0.712	0.05488	T	0.003	0.11197	B	0.02	0.19048	B	0.239561	0.15741	N	0.570931	1	0.08975	N	1.005	0.25186	L	8.69	0.00119	T	-0.07	0.08033	N	0.057	0.02861	-1.0653	0.10479	T	0.000	0.00075	T	10	0.002490759	0.00037	T	.	.	.	0.020	0.03691	.	.	0.151104730317	0.14643	0.04865050334645777	0.04808	0.013914660677	0.01327	0.20371003449	0.00572	T	0.002361	0.01759	T	-0.734356	0.00022	T	-0.812033	0.01619	T	0.00416006033815956	0.00044	T	0.079992	0.00590	T	0.047933973	0.08274	0.040941115	0.04540	0.047933973	0.08274	0.040941115	0.04539	-7.387	0.56813	T	.	.	0.133	0.28636	B	.;.	.;.	-0.802936	0.01101	0.049	0.37902131664170369	0.02525	0.06353	0.12352	N	AEFBI	0.081707	0.16535	N	-0.997986499593772	0.08647	0.4062158	-1.0366282273442	0.08987	0.4447202	3.07196562789965E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.62	-2.37	0.06262	-1.475000	0.02441	.	.	0.578000	0.29377	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.1068:0.401:0.4203:0.0719	7.513	0.26752	862	0.33134	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	0.02381	1577.98	133	chr12	55321080	.	C	T	1577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.210e-01;DP=2633;ExcessHet=0.0000;FS=1.412;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=0.483;SOR=0.831	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1592,0,1786	20	0	1	0
chr12	55321471	55321471	G	A	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.G872A:p.R291K,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.038	B	0.117	B	0.000	D	0.916	N	0.975	L	1.05	T	-1.027	T	0.048	T	0.066	1.996	12.63	5.34	2.761	2.741	9.450	0.136	.	0.0068	0.00419329	0.0019	0.0206	0.0005	0	0	3.003e-05	0.0022	6.067e-05	0.0016947	262	154602	rs77355728	0.0006	0.0006	0.0007	0.0004	0.0200	0.0005	0.0005	0.0187	0.0182	0.0200	0.0005	0	0	0	0.0019	2.249e-05	0.0013	5.811e-05	0.0056	0.0056	0.0061	0.0051	0.0194	0.0053	0.0052	0.0183	0.0179	0.0194	0	0.0018	0	0	0	0	7.352e-05	0.0057	0	0.023	0.48186	D	0.017	0.60337	D	0.038	0.21002	B	0.117	0.32014	B	0.000003	0.62929	D	0.000000	0.915742	0.27408	N	1.83	0.48079	L	1.05	0.39990	T	-2.61	0.56144	D	0.193	0.21188	-1.0267	0.21527	T	0.048	0.20434	T	10	0.007920712	0.00180	T	.	.	.	0.136	0.36778	.	.	0.722062237389	0.71960	0.26182596535708996	0.26095	0.016735574833	0.01616	0.189860463142	0.00223	T	0.00618	0.05618	T	-0.596719	0.00153	T	-0.613666	0.11689	T	0.0259100305714238	0.01394	T	0.658334	0.26756	T	0.46367675	0.64900	0.292589	0.55286	0.46367675	0.64900	0.292589	0.55285	-8.797	0.66381	D	.	.	0.183	0.39748	B	.;.	.;.	3.060375	0.41100	21.3	0.98111561495520472	0.38359	0.72080	0.35295	D	AEFBI	0.112625	0.22255	N	-0.0888098331404784	0.37881	2.210459	0.0435486194095802	0.41760	2.51436	1.46150422247132E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	3.475000	0.52900	.	.	0.652000	0.53365	0.983000	0.35670	0.267000	0.24023	0.926000	0.46234	0.1561:0.0:0.8439:0.0	9.450	0.37885	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	0.02381	1901.98	39	chr12	55321471	.	G	A	1901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=992;ExcessHet=0.0000;FS=6.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=0.078;SOR=0.378	GT:AD:DP:GQ:PL	0/1:102,78:180:99:1916,0,2546	20	0	1	0
chr12	55332198	55332198	T	-	exonic	OR6C3	.	frameshift deletion	OR6C3:NM_054104:exon1:c.498delT:p.C166Wfs*27,	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00419329	0.0019	0.0207	0.0005	0	0	2.997e-05	0.0022	0	0.0002689	7	26028	rs113770805	0.0006	0.0006	0.0007	0.0004	0.0200	0.0005	0.0005	0.0188	0.0183	0.0200	0.0005	0	0	0	0.0019	2.248e-05	0.0013	4.637e-05	0.0056	0.0056	0.0061	0.0051	0.0194	0.0053	0.0052	0.0183	0.0179	0.0194	0	0.0018	0	0	0	0	7.351e-05	0.0057	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3721.94	39	chr12	55332197	.	GT	G	3721.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.387e+00;DP=1045;ExcessHet=0.0000;FS=2.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.00;ReadPosRankSum=-1.424e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/1:110,109:219:99:3736,0,3775	20	0	1	0
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:11,15,0:26:99:320,0,214,353,258,611	11	0	9	0
chr12	56270210	56270210	G	C	exonic	COQ10A	.	nonsynonymous SNV	COQ10A:NM_001099337:exon5:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.938	P	0.874	P	0.000	D	1.000	D	2.525	M	1.46	T	-0.801	T	0.192	T	0.71	4.920	28.4	4.96	2.746	9.249	17.517	0.217	0.010828468459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.04	0.50809	D	0.938	0.52538	P	0.874	0.62049	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.43	0.32958	T	-2.21	0.49684	N	0.714	0.71676	-0.8007	0.55103	T	0.192	0.54492	T	10	0.727894	0.74097	D	0.010828	0.27810	T	0.217	0.51112	0.699	0.83592	0.512021964565	0.50844	0.6356950363655839	0.63503	0.864914079096	0.69159	0.823466300964	0.85559	D	0.127331	0.45429	T	0.0724855	0.61149	D	-0.133656	0.60664	T	0.911658483548394	0.56729	D	0.940206	0.77406	D	0.37227407	0.58753	0.34089497	0.59836	0.37227407	0.58753	0.34089497	0.59835	-9.143	0.68613	D	.	.	0.929	0.85176	P	.;.;.	.;.;.	4.982225	0.82536	27.8	0.9977931989567298	0.86606	0.99286	0.93967	D	AEFDBCI	0.915484	0.88032	D	0.823174144344843	0.87531	9.250757	0.800860528185597	0.89854	10.14908	0.999999999997406	0.74766	0.706548	0.73137	0	0.552637	0.17590	0	0.724815	0.87919	0	0.549297	0.17558	0	.	.	4.96	4.96	0.65153	9.910000	0.98672	11.833000	0.97585	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.517	0.87673	362	0.84826	Coenzyme Q-binding protein COQ10, START domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.06667	132.16	99	chr12	56270210	.	G	C	132.16	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-4.192e+00;DP=1937;ExcessHet=0.1072;FS=227.043;InbreedingCoeff=-0.1399;MLEAC=3;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.49;ReadPosRankSum=0.826;SOR=10.236	GT:AD:DP:GQ:PL	0/1:75,23:98:96:96,0,1578	13	0	2	6
chr12	56720329	56720329	C	T	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.G1201A:p.V401I	.	.	431	1042	47	2	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.027	B	0.006	B	.	.	1.000	N	0	N	0.86	T	-1.043	T	0.043	T	0.025	2.075	12.89	-0.785	-0.469	-0.275	6.608	0.017	.	0.0080	0.0071885	0.0085	0.0021	0.0026	0	0.0023	0.0087	0.0078	0.0227	0.0086157	1332	154602	rs149200196	0.0099	0.0100	0.0096	0.0103	0.0222	0.0098	0.0097	0.0214	0.0210	0.0022	0.0035	0.0047	7.557e-05	0.0022	0.0125	0.0105	0.0072	0.0222	0.0064	0.0064	0.0068	0.0061	0.0224	0.0061	0.0060	0.0190	0.0177	0.0019	0	0.0054	0.0037	0	0.0036	0.0170	0.0095	0.0047	0.0224	0.0	0.91255	D	0.284	0.25514	T	0.027	0.19556	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.69	0.51714	T	-0.28	0.14588	N	0.067	0.04913	-1.0433	0.16324	T	0.043	0.18659	T	9	0.0027790666	0.00044	T	.	.	.	0.017	0.02790	.	.	0.0846915920261	0.08053	0.026496213943266036	0.02599	0.0300485160316	0.03099	0.2774695158	0.07142	T	0.086986	0.37845	T	-0.631707	0.00093	T	-0.662594	0.08092	T	0.00737030575753901	0.00085	T	0.471053	0.13966	T	0.08163117	0.18766	0.08464307	0.19487	0.08163117	0.18765	0.08464307	0.19486	-4.015	0.24027	T	.	.	0.107	0.20078	B	.;.	.;.	-0.056359	0.03909	0.861	0.97167113773209157	0.32660	0.07237	0.13261	N	AEFBCI	0.030556	0.03100	N	-1.15211174013493	0.05746	0.2627286	-1.18914133857327	0.06090	0.2921035	0.999421206361269	0.39630	0.729952	0.87565	0	0.587265	0.34161	0	0.759307	0.98198	0	0.692231	0.68500	0	.	.	3.49	-0.785	0.10397	-0.252000	0.08825	-2.655000	0.03502	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.0:0.5255:0.0:0.4745	6.608	0.21930	45	0.97767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1159.98	47	chr12	56720329	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.572e+00;DP=1515;ExcessHet=0.0000;FS=5.312;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-7.340e-01;SOR=0.333	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1174,0,1308	20	0	1	0
chr12	66244572	66244572	G	A	exonic	IRAK3	.	nonsynonymous SNV	IRAK3:NM_001142523:exon8:c.G791A:p.S264N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	B	0.093	B	0.050	N	1.000	N	1.595	L	-0.14	T	-1.021	T	0.121	T	0.077	0.675	7.614	-0.617	-0.415	0.144	1.368	0.066	0.0177233720411	.	.	3.295e-05	0	8.637e-05	0	0	4.495e-05	0	0	3.23e-05	5	154602	rs754495502	2.805e-05	2.805e-05	2.859e-05	2.75e-05	0.0019	2.087e-05	1.878e-05	0.0011	0.0008	5.975e-05	0	0	0	0	0.0019	1.889e-05	6.624e-05	3.478e-05	1.97e-05	1.969e-05	0	4.03e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.005	0.63226	D	0.069	0.43913	T	0.437	0.35811	B	0.093	0.30104	B	0.049791	0.23129	N	0.477830	1	0.08975	N	1.48	0.37141	L	-0.14	0.65006	T	-2.2	0.49519	N	0.16	0.23884	-1.0206	0.23519	T	0.121	0.42187	T	9	0.10956067	0.20442	T	0.017723	0.39529	T	0.066	0.19193	0.381	0.39807	0.787280612622	0.78530	0.2615107050651214	0.26064	0.0227418883383	0.02294	0.335206478834	0.15719	T	0.136409	0.46876	T	-0.302229	0.08451	T	-0.541457	0.18154	T	0.0460374650471422	0.04790	T	0.561544	0.19673	T	0.17914955	0.38971	0.1126124	0.27173	0.17914955	0.38971	0.1126124	0.27172	-5.076	0.37653	T	.	.	0.061	0.04477	B	.;.	.;.	0.293379	0.06695	3.201	0.90731464583626453	0.19981	0.04988	0.10760	N	AEFDGBI	0.040972	0.06167	N	-0.898960386173715	0.10867	0.5214604	-0.983526788227398	0.10154	0.5096732	0.988598685297875	0.31567	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.64	-0.617	0.10999	0.169000	0.16457	0.475000	0.18750	-0.118000	0.14412	0.234000	0.24685	0.018000	0.20648	0.048000	0.15020	0.3144:0.1359:0.4099:0.1398	1.368	0.02073	725	0.54935	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	0	0	0	0	1	0	0	1	0	0	0	0.02381	1394.98	35	chr12	66244572	.	G	A	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.150e-01;DP=835;ExcessHet=0.0000;FS=3.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.34;SOR=0.837	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1409,0,1575	20	0	1	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:8,0,4,0:12:44:44,67,189,0,121,109,67,189,121,189	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:8,0,4,0:12:44:44,67,189,0,121,109,67,189,121,189	3	0	8	0
chr12	76389653	76389653	G	C	exonic	OSBPL8	.	nonsynonymous SNV	OSBPL8:NM_001319655:exon9:c.C1269G:p.F423L	.	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.012	B	0.000	D	1.000	D	-1.77	N	2.12	T	-0.988	T	0.013	T	0.737	0.829	8.341	5.02	1.511	3.256	12.948	0.179	0.013807415709	.	.	0.0002	0	8.663e-05	0	0	0.0002	0	0.0005	0.0001294	20	154602	rs747923909	5.657e-05	5.883e-05	3.368e-05	7.983e-05	0.0005	4.627e-05	4.287e-05	0.0004	0.0003	0	0.0001	0	0	0	0.0005	2.479e-05	0.0001	0.0005	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-1.745	0.00325	N	2.12	0.19726	T	1.76	0.00537	N	0.411	0.45520	-0.9880	0.33102	T	0.013	0.05033	T	10	0.08488247	0.14273	T	0.013807	0.33491	T	0.179	0.44899	0.54	0.65161	0.492909346147	0.48925	0.7459341502733289	0.74539	0.435919991296	0.43696	0.904340982437	0.96906	D	0.02473	0.18628	T	-0.223672	0.17494	T	-0.258742	0.48951	T	0.0531317368347167	0.06042	T	0.929807	0.74042	D	0.18143411	0.39313	0.11810043	0.28508	0.18143411	0.39312	0.11810043	0.28508	0.079	0.00322	T	.	.	0.683	0.72270	P	.;.;.;.;.;.	.;.;.;.;.;.	2.961681	0.39448	21.0	0.77134082044541274	0.11750	0.96644	0.70182	D	AEFBI	0.464314	0.51287	N	-0.584957624069606	0.19400	1.015079	-0.258520579225593	0.29479	1.651887	0.994323254691569	0.33586	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.9	5.02	0.66742	2.798000	0.47578	6.600000	0.56053	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1341:0.0:0.8659:0.0	12.948	0.57782	942	0.12992	.;.;.;.;.;.	.	.	.	.	.	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	0.07143	2122.66	33	chr12	76389653	.	G	C	2122.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.600e-02;DP=758;ExcessHet=0.0000;FS=2.055;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.44;ReadPosRankSum=-3.920e-01;SOR=0.470	GT:AD:DP:GQ:PL	0/1:22,37:59:99:967,0,555	19	1	1	0
chr12	78122065	78122065	C	T	exonic	NAV3	.	nonsynonymous SNV	NAV3:NM_001024383:exon16:c.C3875T:p.S1292L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.003	U	1.000	D	2.085	M	1.54	T	-0.788	T	0.209	T	0.756	4.855	27.7	5.96	2.814	7.590	20.408	0.300	0.0211664299003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.002884	0.35770	U	0.000000	1	0.81001	D	2.06	0.56677	M	1.54	0.30133	T	-2.61	0.56144	D	0.753	0.93605	-0.7880	0.55846	T	0.209	0.56839	T	10	0.45981365	0.59215	T	0.021166	0.43897	T	0.300	0.62068	0.095	0.01241	0.184605227958	0.18053	0.4302182023164918	0.42938	0.584248282105	0.54115	0.781294107437	0.79122	T	0.063529	0.32199	T	0.0621001	0.59875	T	-0.148574	0.59370	T	0.990160942077637	0.80380	D	0.990041	0.96927	D	0.16098966	0.36078	0.17520957	0.39971	0.16098966	0.36078	0.17520957	0.39970	-12.14	0.86745	D	.	.	0.367	0.62825	A	.;.;.	.;.;.	4.855405	0.79407	27.1	0.99921123506403198	0.98787	0.95188	0.63763	D	AEFBCI	0.894901	0.83438	D	0.846933385922589	0.88933	9.768618	0.857720689200262	0.93460	12.05662	1.0	0.98316	0.562547	0.31514	0	0.573888	0.26702	0	0.565031	0.19037	0	0.635551	0.53088	0	.	.	5.96	5.96	0.96695	7.681000	0.83381	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.408	0.99014	946	0.12043	.;.;.	.	.	.	.	.	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	0.02381	1030.98	33	chr12	78122065	.	C	T	1030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-1.103e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/1:46,39:85:99:1045,0,1301	20	0	1	0
chr12	79621147	79621147	T	C	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon3:c.A577G:p.I193V	.	.	424	1041	52	5	0	62	0.0289179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.003	B	0.005	N	0.843	N	0.695	N	2.33	T	-1.016	T	0.053	T	0.166	-0.097	3.526	1.55	0.071	0.261	8.495	0.006	.	0.0013	0.00858626	0.0061	0.0002	0.0026	0	0.0005	0.0020	0.0088	0.0347	0.0053945	834	154602	rs114414439	0.0030	0.0030	0.0020	0.0041	0.0330	0.0030	0.0029	0.0320	0.0316	0.0004	0.0019	0.0059	0.0002	0.0004	0.0116	0.0009	0.0035	0.0330	0.0022	0.0022	0.0017	0.0027	0.0313	0.0020	0.0019	0.0272	0.0257	0.0002	0	0.0022	0.0069	0.0002	0.0007	0.0136	0.0014	0.0028	0.0313	0.408	0.10212	T	0.889	0.03143	T	0.001	0.07471	B	0.003	0.08700	B	0.004962	0.33218	N	0.295460	0.843411	0.28599	N	0.955	0.23872	L	2.33	0.16492	T	-0.4	0.13805	N	0.084	0.06059	-1.0162	0.24948	T	0.053	0.22384	T	9	0.0024989247	0.00038	T	.	.	.	0.009	0.00846	.	.	0.152612264143	0.14878	0.04010957006196938	0.03956	0.357847506727	0.37495	0.317540466785	0.13048	T	0.253372	0.62388	T	-0.60912	0.00128	T	-0.622668	0.10977	T	0.00117452984299329	0.00011	T	0.583942	0.21221	T	0.012372446	0.00032	0.021040784	0.00170	0.012372446	0.00032	0.021040784	0.00170	-2.672	0.07071	T	.	.	0.073	0.04764	B	.	.	0.441101	0.08112	4.841	0.60576393731601175	0.06497	0.19118	0.20535	N	AEFBI	0.053732	0.09706	N	-0.324694081356762	0.28212	1.554285	-0.319452404254109	0.27471	1.524549	0.0945339958991377	0.16207	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.55	0.22356	0.298000	0.18874	-0.056000	0.12484	-0.112000	0.15009	0.469000	0.26714	0.003000	0.18671	0.936000	0.47498	0.0:0.3588:0.0:0.6412	8.495	0.32282	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1928.11	48	chr12	79621147	.	T	C	1928.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.215;DP=955;ExcessHet=0.1072;FS=0.560;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.372;SOR=0.773	GT:AD:DP:GQ:PL	0/1:56,41:97:99:1017,0,1462	19	0	2	0
chr12	81347726	81347726	T	G	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon8:c.A740C:p.E247A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.956	P	0.931	D	0.000	D	1.000	D	2.755	M	1.33	T	-0.496	T	0.253	T	0.799	5.179	32	5.51	2.213	7.967	15.930	0.476	0.060819183667	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292384090	2.053e-06	2.052e-06	1.361e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.78490	D	0.042	0.76473	D	0.956	0.54666	P	0.931	0.66596	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	0.86	0.46777	T	-4.22	0.87687	D	0.756	0.83371	-0.4963	0.68783	T	0.253	0.62292	T	10	0.6661063	0.70436	D	0.060819	0.68129	D	0.476	0.76816	0.288	0.24761	0.71014061206	0.70761	0.5828677094112323	0.58215	1.05994440171	0.76445	0.859525978565	0.91041	D	0.504251	0.82342	D	0.143897	0.68693	D	-0.0310787	0.68296	D	0.990785002708435	0.81016	D	0.957104	0.84151	D	0.77582324	0.82398	0.7528229	0.85390	0.77582324	0.82399	0.7528229	0.85391	-12.92	0.89098	D	.	.	0.806	0.79163	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.040749	0.83904	28.2	0.99540375207127996	0.70461	0.98601	0.84566	D	AEI	0.950443	0.96408	D	0.839957893182604	0.88530	9.612608	0.807114091332039	0.90285	10.33766	0.999995486285165	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	7.987000	0.87812	7.902000	0.73606	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.930	0.79435	799	0.44747	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1015.98	33	chr12	81347726	.	T	G	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=772;ExcessHet=0.0000;FS=1.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-1.432e+00;SOR=0.976	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1030,0,959	20	0	1	0
chr12	82895930	82895930	C	T	exonic	TMTC2	.	nonsynonymous SNV	TMTC2:NM_001320321:exon2:c.C32T:p.S11L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	1.0	D	0.98	D	0.000	D	1.000	D	1.75	L	0.97	T	-0.918	T	0.216	T	0.852	4.951	28.8	5.84	2.764	7.487	20.139	0.270	0.0406272252823	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs767830943	3.42e-06	3.42e-06	1.361e-06	5.5e-06	3.478e-05	1e-06	7.3e-07	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0	8.993e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.038	0.51421	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	0.97	0.42502	T	-3.28	0.65627	D	0.86	0.85872	-0.9179	0.45837	T	0.216	0.57771	T	10	0.66027266	0.70112	D	0.040627	0.59481	D	0.270	0.58507	0.381	0.39807	0.240615537116	0.23683	0.7651796804640772	0.76466	0.369915212655	0.38521	0.865654051304	0.91941	D	0.043072	0.34008	T	0.0497231	0.58308	T	0.0593491	0.74202	D	0.873375177383423	0.52324	D	0.949755	0.85427	D	0.6867043	0.77332	0.489	0.70462	0.6867043	0.77333	0.489	0.70463	-10.992	0.79615	D	.	.	0.732	0.77075	P	.;.;.	.;.;.	5.103340	0.85284	28.6	0.99931832812952182	0.99387	0.98745	0.86308	D	AEFI	0.902051	0.84949	D	0.519935146816595	0.68268	5.194058	0.589684195083704	0.74198	6.096581	0.999999999928107	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.84	5.84	0.93373	7.568000	0.81546	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	20.139	0.98050	793	0.45818	Domain of unknown function DUF1736;Domain of unknown function DUF1736;Domain of unknown function DUF1736	.	.	.	.	.	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	0.02381	1485.98	33	chr12	82895930	.	C	T	1485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=828;ExcessHet=0.0000;FS=5.592;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=1.64;SOR=1.199	GT:AD:DP:GQ:PL	0/1:71,57:128:99:1500,0,1866	20	0	1	0
chr12	101629472	101629472	G	A	exonic	MYBPC1	.	nonsynonymous SNV	MYBPC1:NM_001254722:exon2:c.G64A:p.A22T	Arthrogryposis, distal, type 1B;Lethal congenital contracture syndrome 4, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	2410424	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.002	B	0.005	B	0.014	N	1.000	N	0	N	0.39	T	-1.043	T	0.074	T	0.223	0.585	7.159	5.28	1.627	5.463	10.567	0.071	0.0112562474689	.	.	4.125e-05	0	0	0	0.0003	4.503e-05	0	0	3.23e-05	5	154602	rs759342445	2.6e-05	2.599e-05	3.131e-05	2.063e-05	0.0002	1.932e-05	1.692e-05	1.83e-05	1.582e-05	0	4.472e-05	0	0	3.746e-05	0.0002	2.608e-05	6.623e-05	0	2.628e-05	2.625e-05	1.285e-05	4.032e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.445e-05	0.0034	2.94e-05	0	0	0.563	0.06757	T	0.567	0.09113	T	0.0	0.02946	B	0.004	0.11217	B	0.013560	0.28806	N	0.240674	1	0.81001	D	0	0.06538	N	0.35	0.58176	T	-0.29	0.14588	N	0.168	0.21969	-1.0432	0.16354	T	0.074	0.29992	T	10	0.083165586	0.13806	T	0.011256	0.28702	T	0.071	0.20720	0.321	0.30064	0.236619781664	0.23270	0.12524746204654702	0.12450	0.0435913940662	0.04699	0.309196352959	0.11786	T	0.010519	0.30928	T	-0.232761	0.16284	T	-0.386218	0.34995	T	0.138304561376572	0.16127	T	0.909909	0.68816	D	0.11576848	0.27314	0.12713727	0.30609	0.11576848	0.27314	0.12713727	0.30609	-3.548	0.21014	T	0.09242464641982052	0.05972	0.102	0.17953	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.797325	0.36791	20.3	0.41746089177584172	0.03032	0.97447	0.74808	D	AEFBI	0.434200	0.49535	N	-0.37451012865043	0.26381	1.43931	-0.172685834628531	0.32546	1.852667	0.994556194300097	0.33691	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	6.16	5.28	0.74118	5.801000	0.68775	6.781000	0.56583	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.1443:0.0:0.8557:0.0	10.567	0.44367	755	0.51144	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	589.98	33	chr12	101629472	.	G	A	589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.093;DP=765;ExcessHet=0.0000;FS=0.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=1.11;SOR=0.487	GT:AD:DP:GQ:PL	0/1:38,27:65:99:604,0,904	20	0	1	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:13,7,0,0,0:20:99:232,0,461,271,482,754,271,482,754,754,271,482,754,754,754	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:13,7,0,0,0:20:99:232,0,461,271,482,754,271,482,754,754,271,482,754,754,754	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:13,7,0,0,0:20:99:232,0,461,271,482,754,271,482,754,754,271,482,754,754,754	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/1:13,7,0,0,0:20:99:232,0,461,271,482,754,271,482,754,754,271,482,754,754,754	6	1	11	0
chr12	103695770	103695770	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon33:c.G3508A:p.D1170N,	.	.	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.008	B	0.007	B	0.093	N	1.000	N	0.6	N	-2.71	D	-0.720	T	0.388	T	0.051	-0.119	3.419	3.41	0.496	0.685	9.319	0.175	0.034105958916	7.7e-05	0.000998403	0.0003	9.61e-05	0.0004	0	0	0.0002	0.0022	0.0007	0.0002393	37	154602	rs183850191	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0005	0.0005	2.987e-05	8.944e-05	0	0	0	0.0003	0.0001	0.0003	0.0007	9.852e-05	9.843e-05	0.0001	8.059e-05	0.0006	6.004e-05	4.878e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	7.349e-05	0.0005	0.0006	0.306	0.14207	T	0.611	0.07666	T	0.008	0.14655	B	0.007	0.12992	B	0.092540	0.20269	N	0.533252	1	0.08975	N	1.16	0.29674	L	-2.71	0.90566	D	-1.23	0.31170	N	0.101	0.08366	-0.7201	0.59458	T	0.388	0.74261	T	10	0.010106534	0.00226	T	0.034106	0.55449	D	0.175	0.44197	.	.	0.478905595755	0.47518	0.5479874004949805	0.54724	0.0852881431463	0.09642	0.302527725697	0.10778	T	0.189702	0.54401	T	-0.396661	0.02435	T	-0.471293	0.25376	T	0.0141532262982098	0.00277	T	0.567243	0.20104	T	0.029572709	0.02474	0.032913685	0.02102	0.029572709	0.02473	0.032913685	0.02102	-6.056	0.46745	T	.	.	0.071	0.03849	B	.	.	0.086689	0.04916	1.492	0.85679684019697078	0.16044	0.08603	0.14509	N	AEFBI	0.088812	0.18004	N	-1.16572799411304	0.05526	0.2521509	-1.09673798092191	0.07763	0.3789599	6.11603026450675E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	3.41	0.38145	0.437000	0.21261	1.050000	0.23629	-0.724000	0.03774	0.000000	0.06391	0.022000	0.20871	0.098000	0.18187	0.3297:0.0:0.6703:0.0	9.319	0.37117	876	0.30350	FAS1 domain|FAS1 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	0.02381	2300.98	34	chr12	103695770	.	G	A	2300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=844;ExcessHet=0.0000;FS=2.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=2.04;SOR=0.547	GT:AD:DP:GQ:PL	0/1:72,85:157:99:2315,0,1788	20	0	1	0
chr12	106239646	106239646	G	A	exonic	CKAP4	.	nonsynonymous SNV	CKAP4:NM_006825:exon2:c.C1187T:p.S396L,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.013	B	0.003	B	0.693	N	1.000	N	1.245	L	-1.11	T	-0.920	T	0.279	T	0.132	0.320	5.733	0.892	0.112	0.380	4.660	0.110	.	.	0.00638978	0.0031	0	0.0009	0	0	3.008e-05	0	0.0219	0.0027102	419	154602	rs375178726	0.0013	0.0013	0.0008	0.0019	0.0213	0.0013	0.0013	0.0205	0.0201	2.987e-05	8.944e-05	0	5.038e-05	1.872e-05	0.0009	1.799e-05	0.0014	0.0213	0.0008	0.0008	0.0005	0.0012	0.0249	0.0007	0.0007	0.0212	0.0199	7.214e-05	0	0	0	0.0002	9.416e-05	0	1.47e-05	0	0.0249	0.154	0.24277	T	1.0	0.01155	T	0.013	0.16609	B	0.003	0.08700	B	0.692517	0.06155	N	1.181770	1	0.08975	N	1.3	0.32576	L	-1.11	0.77466	T	-2.16	0.48850	N	0.084	0.06059	-0.9200	0.45554	T	0.279	0.65079	T	10	0.0029112399	0.00047	T	.	.	.	0.110	0.31079	0.294	0.25720	0.4147015802	0.41088	.	.	0.232613419967	0.25798	0.273899912834	0.06655	T	0.046218	0.27359	T	-0.482084	0.00719	T	-0.449	0.27806	T	0.00945625406961346	0.00122	T	0.605739	0.22785	T	0.04556925	0.07481	0.06535213	0.13232	0.04556925	0.07481	0.06535213	0.13232	-3.991	0.23669	T	.	.	0.090	0.12750	B	.	.	1.136555	0.15237	11.69	0.96170373962086253	0.28926	0.19939	0.20853	N	AEFDBI	0.174143	0.30126	N	-0.890762061943879	0.11062	0.5318141	-0.912096872344374	0.11808	0.6038442	0.940501322223616	0.27434	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	0.892	0.18364	0.554000	0.23113	3.673000	0.39443	0.676000	0.76740	0.000000	0.06391	0.649000	0.25954	0.008000	0.08271	0.3125:0.0:0.547:0.1405	4.660	0.12023	907	0.22727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	692.98	34	chr12	106239646	.	G	A	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.540e-01;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.06;ReadPosRankSum=1.26;SOR=0.791	GT:AD:DP:GQ:PL	0/1:54,32:86:99:707,0,1419	20	0	1	0
chr12	111518261	111518261	C	T	exonic	ATXN2	.	nonsynonymous SNV	ATXN2:NM_001310123:exon7:c.G766A:p.V256I	Spinocerebellar ataxia 2, Autosomal dominant	.	3	1511	8	0	0	8	0.00264026	.	.	3294104	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.996	D	0.987	D	0.000	D	1.000	D	0.805	L	-0.16	T	-0.704	T	0.276	T	0.274	2.843	15.47	4.27	1.159	7.205	15.012	0.255	0.0273601925724	0.0002	0.000399361	0.0002	9.617e-05	0	0	0	0.0003	0	0.0002	0.0002329	36	154602	rs145810958	0.0002	0.0002	0.0002	0.0002	0.0078	0.0002	0.0002	0.0060	0.0054	0.0004	0.0004	0.0022	2.531e-05	0	0.0078	0.0001	0.0005	0.0002	0.0004	0.0004	0.0003	0.0005	0.0024	0.0003	0.0003	0.0017	0.0015	0.0001	0	0.0024	0.0014	0	0	0.0170	0.0001	0.0005	0.0002	0.027	0.46513	D	0.257	0.35710	T	0.595	0.68779	P	0.192	0.77487	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.075	0.57047	M	-0.16	0.66113	T	-0.45	0.15178	N	0.606	0.67132	-0.7036	0.60266	T	0.276	0.64814	T	10	0.053849548	0.05640	T	0.02736	0.50178	D	0.255	0.56562	.	.	0.452650218784	0.44890	0.18625792326796123	0.18543	1.03974101562	0.75753	0.684398651123	0.64900	T	0.021121	0.53836	T	-0.266444	0.12156	T	-0.271073	0.47712	T	0.167464181780815	0.18406	T	0.838616	0.51177	T	0.12865596	0.30073	0.098489664	0.23482	0.16320188	0.36445	0.12748422	0.30686	-3.988	0.23624	T	.	.	0.114	0.26825	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.569641	0.72080	25.8	0.98688761620608934	0.44723	0.98786	0.86836	D	AEFBI	0.822352	0.74270	D	0.143729654188245	0.48515	3.062858	0.195016708105032	0.49572	3.158892	0.999912651260418	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	4.27	0.50009	7.286000	0.78031	7.669000	0.64672	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1437:0.8563:0.0:0.0	15.012	0.71214	599	0.68140	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	688.98	35	chr12	111518261	.	C	T	688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=740;ExcessHet=0.0000;FS=1.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=0.833;SOR=0.475	GT:AD:DP:GQ:PL	0/1:36,28:64:99:703,0,888	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,24:49:99:0|1:111598949_GGCT_G:696,771,1478,0,708,636:111598949	2	0	0	0
chr12	113179237	113179237	C	T	exonic	DDX54	.	nonsynonymous SNV	DDX54:NM_001111322:exon4:c.G470A:p.R157Q	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.945	P	0.531	P	0.001	D	0.866	D	1.21	L	2.46	T	-1.104	T	0.040	T	0.277	4.840	27.5	4.48	2.573	2.143	6.715	0.079	0.013332900515	7.7e-05	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001488	23	154602	rs201119519	0.0001	0.0001	0.0001	0.0002	0.0008	0.0001	0.0001	0.0006	0.0006	2.987e-05	0	0.0002	0	0	0.0003	9.442e-05	0.0003	0.0008	7.224e-05	7.218e-05	8.996e-05	5.372e-05	0.0002	3.969e-05	3.126e-05	5.842e-05	4.24e-05	4.813e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.006	0.61437	D	0.008	0.67890	D	0.932	0.53279	P	0.497	0.48577	P	0.000516	0.43753	D	0.186306	0.865691	0.35469	D	1.035	0.25616	L	2.46	0.14907	T	-1.91	0.45949	N	0.604	0.62526	-1.1044	0.03598	T	0.040	0.17191	T	10	0.11992431	0.22704	T	0.013333	0.32649	T	0.079	0.23065	.	.	0.173771789658	0.16945	0.6559562905162769	0.65531	0.901772325919	0.70668	0.403161048889	0.25509	T	0.014498	0.16426	T	-0.439286	0.01306	T	-0.504617	0.21870	T	0.0996554305472649	0.12319	T	0.989612	0.96575	D	0.12552175	0.29423	0.1159614	0.27995	0.12552175	0.29423	0.1159614	0.27994	-12.82	0.88616	D	.	.	0.091	0.25166	B	.;.;.	.;.;.	4.882618	0.80089	27.2	0.99924769336040908	0.98980	0.80034	0.39782	D	AEFDBCI	0.185634	0.31295	N	0.350047172582753	0.58741	4.04841	0.400612226892433	0.61604	4.362748	0.999958225209816	0.48110	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	4.48	0.53973	2.175000	0.42119	2.140000	0.30838	0.599000	0.40250	1.000000	0.71638	0.984000	0.30665	0.965000	0.52897	0.0:0.7308:0.0:0.2692	6.715	0.22486	724	0.55085	.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	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	0.02381	1279.98	36	chr12	113179237	.	C	T	1279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=802;ExcessHet=0.0000;FS=6.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.80;ReadPosRankSum=0.071;SOR=0.245	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1294,0,815	20	0	1	0
chr12	115991619	115991619	G	A	exonic	MED13L	.	nonsynonymous SNV	MED13L:NM_015335:exon17:c.C3335T:p.T1112I,	Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.053	B	0.028	B	0.000	D	0.996	D	1.15	L	-0.8	T	-0.592	T	0.305	T	0.328	2.325	13.73	5.16	2.682	3.292	18.845	0.188	0.0139454942861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.057	0.46406	T	0.053	0.22573	B	0.028	0.21332	B	0.000404	0.44736	D	0.260950	0.995954	0.42940	D	1.185	0.30054	L	-0.8	0.73845	T	-2.76	0.58569	D	0.262	0.29659	-0.5923	0.65128	T	0.305	0.67575	T	10	0.3013549	0.47678	T	0.013945	0.33715	T	0.188	0.46444	0.36	0.36385	0.151262610727	0.14761	0.6678793898649538	0.66725	0.651573886625	0.58386	0.754630088806	0.75131	T	0.285892	0.65868	T	-0.0301717	0.47393	T	-0.281116	0.46691	T	0.769032835960388	0.44381	D	0.872113	0.57861	D	0.21693659	0.44164	0.19905916	0.43769	0.21693659	0.44164	0.19905916	0.43768	-8.73	0.65942	D	0.20106096019107508	0.26703	0.237	0.53526	B	.;.	.;.	3.538106	0.49673	22.8	0.99412206493340194	0.63358	0.90741	0.52173	D	AEFBI	0.220783	0.34549	N	0.0271505539363669	0.43093	2.608994	0.201344576055642	0.49923	3.189822	0.999848957908223	0.43971	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	2.297000	0.43254	11.805000	0.96765	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.845	0.92171	965	0.07246	.;.	.	.	.	.	.	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	0.02381	1871.98	33	chr12	115991619	.	G	A	1871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=828;ExcessHet=0.0000;FS=2.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=-1.374e+00;SOR=0.927	GT:AD:DP:GQ:PL	0/1:61,64:125:99:1886,0,1546	20	0	1	0
chr12	120196875	120196889	GGCAGCAGCCACAGG	-	exonic	RPLP0	.	nonframeshift deletion	RPLP0:NM_001002:exon8:c.838_852del:p.P280_A284del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.00119808	0.0005	0.0007	0.0003	0.0009	0	0.0004	0	0.0008	0.0002689	7	26028	rs572058538	0.0007	0.0007	0.0007	0.0007	0.0013	0.0007	0.0007	0.0010	0.0009	0.0007	8.945e-05	0.0002	0.0013	9.443e-05	0.0004	0.0008	0.0007	0.0005	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0003	0.0006	0.0012	0	0.0034	0.0009	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1298.94	37	chr12	120196874	.	TGGCAGCAGCCACAGG	T	1298.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=778;ExcessHet=0.0000;FS=0.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.64;MQRankSum=-1.000e-01;QD=16.65;ReadPosRankSum=0.924;SOR=0.631	GT:AD:DP:GQ:PL	0/1:43,35:78:99:1313,0,1678	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/5:18,0,3,4,3,8:37:85:456,358,1118,199,963,938,85,880,804,835,445,752,592,479,874,0,798,683,677,393,750	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/5:18,0,3,4,3,8:37:85:456,358,1118,199,963,938,85,880,804,835,445,752,592,479,874,0,798,683,677,393,750	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/5:18,0,3,4,3,8:37:85:456,358,1118,199,963,938,85,880,804,835,445,752,592,479,874,0,798,683,677,393,750	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/5:18,0,3,4,3,8:37:85:456,358,1118,199,963,938,85,880,804,835,445,752,592,479,874,0,798,683,677,393,750	4	0	0	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	0/2:27,0,23,0,0:50:99:750,832,1878,0,1046,977,832,1878,1046,1878,832,1878,1046,1878,1878	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	0/2:27,0,23,0,0:50:99:750,832,1878,0,1046,977,832,1878,1046,1878,832,1878,1046,1878,1878	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	0/2:27,0,23,0,0:50:99:750,832,1878,0,1046,977,832,1878,1046,1878,832,1878,1046,1878,1878	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	0/2:27,0,23,0,0:50:99:750,832,1878,0,1046,977,832,1878,1046,1878,832,1878,1046,1878,1878	0	1	2	0
chr12	131719498	131719498	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon4:c.G565A:p.V189I	.	.	435	1058	28	1	0	30	0.0139795	.	.	2817140	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.53	T	0.331	B	0.031	B	0.063	N	0.891	D	0	N	2.85	T	-0.950	T	0.008	T	0.101	0.772	8.081	-3.14	-0.751	0.318	14.097	0.031	0.00437233703301	0.0045	0.00219649	0.0050	0.0009	0.0010	0	0.0068	0.0057	0.0044	0.0093	0.0047735	738	154602	rs35562367	0.0056	0.0056	0.0054	0.0058	0.0107	0.0055	0.0055	0.0101	0.0099	0.0015	0.0016	0.0015	5.038e-05	0.0074	0.0038	0.0057	0.0049	0.0107	0.0044	0.0044	0.0041	0.0047	0.0104	0.0041	0.0040	0.0081	0.0073	0.0010	0	0.0042	0.0017	0	0.0063	0	0.0063	0.0019	0.0104	0.593	0.05755	T	0.741	0.04965	T	0.012	0.16265	B	0.004	0.10090	B	0.063418	0.22027	N	0.532850	0.890863	0.35949	D	-0.585	0.02270	N	2.85	0.10578	T	-0.37	0.13226	N	0.119	0.10911	-0.9502	0.40938	T	0.008	0.02801	T	10	0.0062130988	0.00140	T	0.004372	0.10655	T	0.031	0.07369	.	.	0.123314135267	0.11883	0.07507751784154569	0.07443	0.666889320388	0.59220	0.264494180679	0.05438	T	0.094017	0.39330	T	-0.662726	0.00060	T	-0.717202	0.04932	T	0.0058287017804224	0.00064	T	0.80112	0.44691	T	0.018225698	0.00343	0.0262128	0.00698	0.018225698	0.00343	0.0262128	0.00698	-2.446	0.05573	T	.	.	0.064	0.01762	B	.;.	.;.	0.376821	0.07489	4.131	0.8096812678778319	0.13455	0.58450	0.30645	D	AEFBCI	0.045792	0.07529	N	-1.05591377937999	0.07472	0.3472182	-0.965469141550142	0.10566	0.5329898	0.99624934018087	0.34617	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	-3.14	0.04928	0.287000	0.18678	-0.046000	0.12607	-0.244000	0.07312	0.977000	0.34929	0.000000	0.08366	0.322000	0.25017	0.4654:0.0:0.5346:0.0	14.097	0.64559	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	0.02381	562.98	33	chr12	131719498	.	G	A	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.840e-01;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.13;ReadPosRankSum=-9.330e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/1:51,28:79:99:577,0,1297	20	0	1	0
chr12	132926700	132926700	C	T	exonic	ZNF605	.	nonsynonymous SNV	ZNF605:NM_001164715:exon5:c.G692A:p.S231N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.042	B	0.042	B	0.039	N	1.000	N	0.145	N	2.16	T	-0.997	T	0.016	T	0.015	-1.849	0.009	-0.794	-0.040	-4.294	1.162	0.028	0.00236638252921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.07354	T	1.0	0.01155	T	0.042	0.21471	B	0.042	0.24114	B	0.038694	0.24257	N	0.207634	1	0.08975	N	0.65	0.16133	N	2.16	0.19166	T	0.05	0.08187	N	0.066	0.09631	-0.9966	0.30865	T	0.016	0.06521	T	10	0.026116878	0.00786	T	0.002366	0.04590	T	0.028	0.06331	0.224	0.14813	0.229543500084	0.22568	0.012293058189533667	0.01188	.	.	0.289449155331	0.08843	T	0.006943	0.06364	T	-0.415436	0.01830	T	-0.834522	0.01185	T	0.0978169143199921	0.12115	T	0.059594	0.00430	T	0.03412422	0.03767	0.03613717	0.03001	0.03412422	0.03767	0.03613717	0.03000	-4.993	0.36764	T	.	.	0.129	0.27613	B	.;.	.;.	0.757272	0.11270	7.897	0.80380861521696878	0.13176	0.01953	0.05932	N	AEFDBHI	0.037726	0.05230	N	-1.4693155773061	0.02069	0.09099805	-1.4471948120883	0.02796	0.1292453	0.0154164773197887	0.12711	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.553451	0.17756	0	.	.	3.3	-0.794	0.10367	-4.093000	0.00336	-4.319000	0.02219	-0.315000	0.05944	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.1594:0.2365:0.1565:0.4475	1.162	0.01697	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1588.98	33	chr12	132926700	.	C	T	1588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.397e+00;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-6.440e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1603,0,1844	20	0	1	0
chr13	19705699	19705699	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354909:exon8:c.A1349G:p.N450S	.	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.003	B	0.004	B	0.000	D	0.875	D	1.355	L	2.52	T	-1.046	T	0.025	T	0.081	1.269	10.14	3.89	0.878	4.282	8.371	0.089	0.00390126569449	.	.	0.0016	0.0038	0.0005	0	0.0003	0.0020	0.0014	0.0007	3.84e-05	1	26028	rs747690097	0.0006	0.0043	0.0006	0.0006	0.0038	0.0005	0.0005	0.0025	0.0021	0.0012	0.0008	0.0008	0	7.566e-05	0.0038	0.0005	0.0005	0.0011	6.656e-05	0.0013	6.514e-05	6.805e-05	0.0002	3.56e-05	2.747e-05	9.669e-05	7.037e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.628	0.05183	T	0.791	0.04181	T	0.003	0.11197	B	0.004	0.10090	B	0.000005	0.62929	D	0.141833	0.875453	0.35645	D	2.175	0.60977	M	2.52	0.14160	T	-0.71	0.20145	N	0.389	0.43029	-1.0460	0.15534	T	0.025	0.10464	T	10	0.01992461	0.00451	T	0.003901	0.09180	T	0.089	0.25827	.	.	0.263709349026	0.25991	0.31023299681423644	0.30936	1.58326423833	0.88413	0.560328662395	0.47314	T	0.023946	0.18187	T	-0.271186	0.11624	T	-0.627316	0.10619	T	0.0115631071898478	0.00175	T	0.851615	0.53551	D	0.048064068	0.08317	0.046961877	0.06662	0.048064068	0.08317	0.046961877	0.06661	-3.543	0.17039	T	.	.	0.066	0.03060	B	.;.	.;.	2.734902	0.35810	19.99	0.97863726497321746	0.36486	0.94119	0.60170	D	AEBI	0.373470	0.45873	N	-0.321271564085281	0.28342	1.562413	-0.148788062981382	0.33455	1.913874	0.706191074588238	0.22762	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.08	3.89	0.44098	3.910000	0.56084	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1543:0.0:0.8457	8.371	0.31578	940	0.13648	.;.	.	.	.	.	.	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	0.07143	439.72	33	chr13	19705699	.	T	C	439.72	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.880e-01;DP=1098;ExcessHet=0.3300;FS=2.966;InbreedingCoeff=-0.0761;MLEAC=3;MLEAF=0.071;MQ=46.46;MQRankSum=-4.174e+00;QD=1.07;ReadPosRankSum=-1.520e+00;SOR=1.114	GT:AD:DP:GQ:PL	0/1:142,26:168:99:264,0,3908	18	0	3	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	1/2:3,23,28,0:54:99:1326,608,537,442,0,470,1247,663,540,1287	1	1	4	0
chr13	23889281	23889281	C	T	exonic	MIPEP	.	nonsynonymous SNV	MIPEP:NM_005932:exon1:c.G40A:p.A14T,	Combined oxidative phosphorylation deficiency 31, Autosomal recessive	.	426	1088	7	1	0	9	0.00411899	.	.	1017740	Inborn_genetic_diseases|not_provided|Lethal_left_ventricular_non-compaction-seizures-hypotonia-cataract-developmental_delay_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228,Orphanet:478049	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.012	B	0.015	B	0.072	N	1.000	N	0.69	N	2.91	T	-0.971	T	0.025	T	0.284	1.973	12.55	2.83	0.667	-0.816	10.862	0.037	0.00391740716445	0.0001	.	0.0034	0	0	0	.	0.0059	0	0	3.88e-05	6	154602	rs367730807	0.0008	0.0008	0.0008	0.0008	0.0103	0.0008	0.0008	0.0078	0.0070	0.0003	0.0010	0.0001	0	2.486e-05	0.0103	0.0009	0.0006	0.0011	0.0007	0.0007	0.0008	0.0007	0.0014	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0004	0	0	9.413e-05	0.0102	0.0014	0.0005	0.0002	0.113	0.28772	T	0.256	0.23298	T	0.012	0.16265	B	0.015	0.17295	B	0.072432	0.02265	N	2.141050	1	0.08975	N	0.895	0.22405	L	2.91	0.10008	T	-0.12	0.08809	N	0.269	0.30461	-0.9712	0.36946	T	0.025	0.10598	T	10	0.0056168735	0.00125	T	0.003917	0.09242	T	0.037	0.09474	.	.	0.0666544352282	0.05500	0.30943449715191595	0.30856	0.0868075944168	0.09792	0.661522388458	0.61628	T	0.028438	0.20599	T	-0.556128	0.00268	T	-0.596244	0.13130	T	0.0675089817170043	0.08298	T	0.678032	0.28700	T	0.036876928	0.04622	0.078144796	0.17476	0.036876928	0.04622	0.078144796	0.17475	-6.226	0.48133	T	.	.	0.210	0.43788	B	.	.	0.787682	0.11578	8.172	0.99100370590243236	0.52446	0.05180	0.10999	N	ALL	0.042747	0.06672	N	-0.953314997850535	0.09618	0.4560167	-0.955816166354092	0.10788	0.5456336	0.999999999967143	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.72	2.83	0.32150	-0.782000	0.04749	-0.472000	0.08972	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.297000	0.24428	0.0:0.7487:0.2513:0.0	10.862	0.46038	391	0.83213	.	.	.	.	.	.	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	0.02381	737.98	34	chr13	23889281	.	C	T	737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-01;DP=754;ExcessHet=0.0000;FS=2.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=2.64;SOR=0.899	GT:AD:DP:GQ:PL	0/1:23,32:55:99:752,0,528	20	0	1	0
chr13	26676631	26676631	T	C	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_006646:exon7:c.T623C:p.M208T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.469	P	0.135	B	0.000	D	1.000	D	2.19	M	0.86	T	-0.844	T	0.155	T	0.863	3.513	17.94	5.77	2.200	7.608	16.066	0.269	0.0231026116929	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs769209646	2.736e-06	2.736e-06	5.445e-06	0	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	1.872e-05	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.084	0.41239	T	0.469	0.36524	P	0.135	0.33210	B	0.000000	0.84330	D	0.068628	1	0.81001	D	2.015	0.55033	M	0.86	0.46777	T	-3.75	0.71157	D	0.925	0.92901	-0.8440	0.52379	T	0.155	0.48687	T	10	0.594343	0.66556	D	0.023103	0.46041	T	0.269	0.58381	0.301	0.26843	0.117191471859	0.11215	0.5417486398968957	0.54099	0.646625140246	0.58073	0.857486248016	0.90739	D	0.393157	0.75264	T	0.222851	0.76045	D	0.0823333	0.75733	D	0.914670348167419	0.57140	D	0.956104	0.83363	D	0.77613574	0.82417	0.7918367	0.87759	0.77613574	0.82419	0.7918367	0.87760	-6.228	0.48149	T	.	.	0.971	0.89618	P	.	.	3.227704	0.44003	21.8	0.98941219764225419	0.48940	0.97725	0.76683	D	AEFBI	0.885906	0.81684	D	0.380803316447592	0.60382	4.226536	0.491168664623474	0.67403	5.079419	0.99999999996344	0.74766	0.722319	0.85440	0	0.627178	0.54094	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	7.585000	0.81876	7.782000	0.68692	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.066	0.80674	928	0.17405	.	.	.	.	.	.	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	0.07143	224.68	133	chr13	26676631	.	T	C	224.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.769e+00;DP=1407;ExcessHet=0.3300;FS=145.778;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.872;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,42:190:99:.:.:131,0,3244	18	0	3	0
chr13	30966310	30966310	C	A	exonic	TEX26	.	stopgain	TEX26:NM_001353390:exon3:c.C165A:p.Y55X	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.028	29.7	2.71	0.760	0.897	6.801	.	.	7.7e-05	.	3.296e-05	0	0	0	0	5.996e-05	0	0	3.88e-05	6	154602	rs111513492	3.421e-05	3.42e-05	2.859e-05	3.988e-05	0.0005	2.631e-05	2.375e-05	0.0003	0.0003	0.0005	4.472e-05	0	0	0	0.0002	1.709e-05	0.0002	0	3.941e-05	3.938e-05	5.141e-05	2.687e-05	9.629e-05	1.715e-05	1.129e-05	3.244e-05	1.911e-05	9.629e-05	0	0	0	0	0	0.0034	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000182	0.48115	D	0.088358	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.224	0.25130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424028	0.91229	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	7.458149	0.96537	36	0.9969420207305657	0.80180	0.76850	0.37725	D	AEFDBI	0.113609	0.22409	N	0.571953890007097	0.71428	5.649462	0.408626367177995	0.62101	4.420043	0.985427513807253	0.30885	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	2.71	0.31092	0.435000	0.21228	0.164000	0.15440	0.599000	0.40250	1.000000	0.71638	0.964000	0.29435	0.998000	0.85391	0.0:0.7159:0.0:0.2841	6.801	0.22935	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	734.98	46	chr13	30966310	.	C	A	734.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.100e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=-5.520e-01;SOR=0.647	GT:AD:DP:GQ:PL	0/1:60,39:99:99:749,0,1333	20	0	1	0
chr13	33111803	33111803	A	G	exonic	STARD13	.	nonsynonymous SNV	STARD13:NM_052851:exon10:c.T2228C:p.I743T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.375	M	2.14	T	-0.532	T	0.204	T	0.991	4.871	27.9	5.61	2.259	9.171	16.103	0.796	0.0761603534779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	2.14	0.20122	T	-4.66	0.80595	D	0.985	0.99776	-0.5324	0.67450	T	0.204	0.56197	T	10	0.94739515	0.94068	D	0.07616	0.72464	D	0.796	0.93306	0.728	0.86198	0.857675792657	0.85630	0.7755266573763596	0.77502	0.705284076393	0.61380	0.727703273296	0.71171	T	0.822902	0.95689	D	0.290828	0.82224	D	0.179978	0.81995	D	0.99875009059906	0.95068	D	0.995275	0.98387	D	0.8065001	0.84324	0.7567165	0.85623	0.8065001	0.84325	0.7567165	0.85624	-12.12	0.85887	D	.	.	0.927	0.84763	P	.;.;.	.;.;.	4.940163	0.81522	27.6	0.99872068391695623	0.94989	0.96601	0.69959	D	AEFDGBCIJ	0.906598	0.85956	D	0.980277153487378	0.95107	13.31447	0.917520422649904	0.96292	14.52191	0.999999999999996	0.74766	0.645754	0.44609	0	0.519925	0.08708	0	0.618467	0.43123	0	0.723	0.93126	0	.	.	5.61	5.61	0.85347	9.210000	0.94212	11.072000	0.85602	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.103	0.81002	473	0.77910	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	88.73	43	chr13	33111803	.	A	G	88.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.614e+00;DP=1156;ExcessHet=0.3300;FS=92.526;InbreedingCoeff=-0.0780;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=0.072;SOR=8.967	GT:AD:DP:GQ:PL	0/1:37,12:49:51:51,0,726	18	0	3	0
chr13	37569335	37569335	A	G	exonic	POSTN	.	nonsynonymous SNV	POSTN:NM_001286666:exon18:c.T2135C:p.F712S	.	.	443	1039	38	2	0	42	0.0198113	.	.	713921	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.37	T	0.867	P	0.544	P	0.095	N	1.000	N	1.1	L	-2.77	D	-0.353	T	0.525	D	0.093	2.630	14.75	4.41	0.943	4.010	10.104	0.228	.	0.0078	0.00319489	0.0070	0.0019	0.0065	0	0.0036	0.0102	0.0088	0.0024	0.0071603	1107	154602	rs75157793	0.0083	0.0083	0.0082	0.0084	0.0444	0.0082	0.0081	0.0400	0.0382	0.0025	0.0085	0.0286	0	0.0036	0.0444	0.0086	0.0102	0.0035	0.0071	0.0071	0.0071	0.0070	0.0105	0.0067	0.0066	0.0092	0.0090	0.0016	0	0.0105	0.0283	0	0.0028	0.0476	0.0098	0.0128	0.0033	0.404	0.65419	T	0.203	0.74150	T	0.593	0.47667	P	0.123	0.49014	B	0.095195	0.20135	N	0.497686	1	0.81001	D	1.1	0.28011	L	-2.8	0.91305	D	-1.16	0.29727	N	0.299	0.40164	-0.3532	0.73461	T	0.525	0.82331	D	10	0.00763011	0.00173	T	.	.	.	0.228	0.52768	.	.	0.919383460032	0.91856	0.6702049319968416	0.66958	0.271867686354	0.29697	0.340815365314	0.16560	T	0.206593	0.56598	T	-0.366748	0.03762	T	-0.28726	0.46055	T	0.0294644826363867	0.01907	T	0.748625	0.37818	T	0.1899733	0.40562	0.16072664	0.37421	0.1899733	0.40562	0.16072664	0.37421	-2.671	0.14193	T	.	.	0.150	0.35951	B	.;.;.;.	.;.;.;.	2.916861	0.38706	20.8	0.99462021203651474	0.65840	0.88563	0.48549	D	AEBI	0.614519	0.60181	D	0.00339914299677251	0.42010	2.523229	0.120058895224298	0.45577	2.818331	0.849759054739009	0.25022	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.59	4.41	0.52588	4.016000	0.56871	7.027000	0.57288	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.9239:0.0:0.0761:0.0	10.104	0.41697	503	0.75780	.;.;.;.	.	.	POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN|POSTN	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1877.11	37	chr13	37569335	.	A	G	1877.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.390e-01;DP=850;ExcessHet=0.1072;FS=0.568;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.684;SOR=0.674	GT:AD:DP:GQ:PL	0/1:37,36:73:99:843,0,876	19	0	2	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.951	P	0.409	B	0.000	N	1.000	D	2.865	M	1.88	T	-0.981	T	0.091	T	0.248	3.297	17.08	4.14	0.938	4.903	8.428	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	1573.08	134	chr13	38859428	.	G	C	1573.08	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-4.318e+00;DP=3120;ExcessHet=17.4423;FS=268.600;InbreedingCoeff=-0.5351;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.855;SOR=13.744	GT:AD:DP:GQ:PL	0/1:91,39:139:16:16,0,1652	6	0	15	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,48:141:99:.:.:459,0,2167	0	0	20	1
chr13	44573380	44573380	C	T	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_183422:exon1:c.G2695A:p.A899T,	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.006	B	0.005	B	0.050	N	1.000	D	0.255	N	-2.06	D	-0.881	T	0.170	T	0.202	0.205	5.102	2.09	0.686	1.011	9.701	0.148	.	0.0065	0.00259585	0.0085	0.0009	0.0016	0	0.0319	0.0117	0.0110	0.0004	0.0083117	1285	154602	rs61947992	0.0090	0.0090	0.0093	0.0086	0.0098	0.0089	0.0088	0.0096	0.0096	0.0014	0.0017	0.0007	0	0.0298	0.0005	0.0098	0.0080	0.0004	0.0071	0.0071	0.0067	0.0076	0.0101	0.0068	0.0066	0.0095	0.0093	0.0014	0	0.0025	0	0	0.0271	0	0.0101	0.0052	0.0004	0.646	0.04912	T	0.553	0.09329	T	0.006	0.13644	B	0.005	0.11217	B	0.049510	0.23154	N	0.366671	0.556471	0.81001	D	0.55	0.14455	N	-2.06	0.85875	D	1.53	0.00711	N	0.15	0.15328	-0.8810	0.49681	T	0.170	0.51036	T	10	0.0036276877	0.00066	T	.	.	.	0.148	0.39182	.	.	0.231005064126	0.22704	0.5171799163343556	0.51640	0.0701451023839	0.07856	0.362534403801	0.19754	T	0.047362	0.27700	T	-0.381456	0.03050	T	-0.30968	0.43693	T	0.00869644589079774	0.00107	T	0.80032	0.44603	T	0.046290386	0.07724	0.054764003	0.09479	0.046290386	0.07723	0.054764003	0.09478	-4.09	0.25142	T	.	.	0.069	0.03162	B	.	.	2.759015	0.36180	20.2	0.86657193600043403	0.16684	0.61751	0.31577	D	AEFDGBCI	0.060808	0.11582	N	-0.552100686731857	0.20418	1.076204	-0.365972607507804	0.26020	1.434541	0.999999141576406	0.74766	0.72623	0.87236	0	0.60822	0.50512	0	0.594344	0.31042	0	0.735409	0.98432	0	.	.	5.02	2.09	0.26154	1.042000	0.29914	2.167000	0.31025	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.997000	0.79791	0.0:0.7294:0.0:0.2706	9.701	0.39350	931	0.16308	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2356.98	33	chr13	44573380	.	C	T	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=854;ExcessHet=0.0000;FS=2.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=-7.720e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/1:67,86:153:99:2371,0,1792	20	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:100,40:140:99:106,0,1556	10	0	11	0
chr13	49220340	49220340	G	A	exonic	MLNR	.	startloss	MLNR:NM_001507:exon1:c.G3A:p.M1?,	.	.	433	1058	29	2	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.963	D	0.549	P	0.001	U	1.000	D	.	.	-0.36	T	-0.323	T	0.335	T	0.827	2.899	15.66	4.34	1.960	1.434	13.991	0.420	.	.	0.00479233	0	0	.	0	.	0	0	0	0.0006404	99	154602	rs372763744	0.0062	0.0056	0.0058	0.0066	0.0177	0.0060	0.0060	0.0168	0.0164	0.0007	0.0085	0.0036	0.0001	0.0089	0.0117	0.0057	0.0070	0.0177	0.0048	0.0048	0.0052	0.0045	0.0156	0.0045	0.0044	0.0128	0.0117	0.0008	0	0.0064	0.0035	0	0.0068	0.0276	0.0062	0.0071	0.0156	0.02	0.49613	D	0.148	0.32675	T	0.963	0.55692	D	0.549	0.49194	P	0.000765	0.41888	U	0.104565	0.999962	0.52935	D	.	.	.	-0.36	0.68754	T	-1.02	0.26843	N	0.783	0.77978	-0.3234	0.74327	T	0.335	0.70182	T	9	0.015151739	0.00318	T	.	.	.	0.420	0.72930	0.977	0.99785	0.847761603604	0.84629	0.4019045423288962	0.40106	.	.	.	.	.	0.026416	0.19553	T	-0.167037	0.25684	T	0.00354358	0.70565	D	0.0671573362189728	0.08246	T	0.9	0.65058	D	0.61442816	0.73465	0.45621848	0.68392	0.61442816	0.73466	0.45621848	0.68392	-9.405	0.70266	D	.	.	.	.	.	.	.	2.523876	0.32617	19.10	0.98712100844934947	0.45069	0.76434	0.37486	D	AEFDBHCIJ	0.017900	0.00502	N	0.176614935791642	0.50078	3.201316	0.135532556535436	0.46379	2.884915	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.34	4.34	0.51267	0.962000	0.28877	6.214000	0.55048	0.582000	0.30178	0.817000	0.29947	1.000000	0.68203	0.028000	0.12845	0.0:0.0:1.0:0.0	13.991	0.63881	660	0.61921	.	.	.	.	.	.	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	0.04762	501.11	23	chr13	49220340	.	G	A	501.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.413e+00;DP=524;ExcessHet=0.1072;FS=4.874;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=1.12;SOR=0.145	GT:AD:DP:GQ:PL	0/1:7,7:14:99:212,0,252	19	0	2	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:60,27:100:99:101,0,764	5	0	15	1
chr13	71866535	71866535	-	GCCGCC	exonic	DACH1	.	nonframeshift insertion	DACH1:NM_001366712:exon1:c.234_235insGGCGGC:p.G81_S82insGG	.	.	6	167	15	3	35	56	0.0591549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3245.31	39	chr13	71866526	.	TGCCGCCGCC	T,TGCCGCCGCCGCCGCC	3245.31	.	AC=2,5;AF=0.048,0.119;AN=42;BaseQRankSum=0.433;DP=629;ExcessHet=0.2785;FS=2.709;InbreedingCoeff=0.1429;MLEAC=2,5;MLEAF=0.048,0.119;MQ=60.00;MQRankSum=0.00;QD=18.65;ReadPosRankSum=0.142;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,14,0:32:99:.:.:534,0,693,588,735,1323	15	0	2	0
chr13	94601935	94601935	G	T	exonic	GPR180	.	nonsynonymous SNV	GPR180:NM_180989:exon1:c.G8T:p.G3V,	.	.	399	1120	3	0	0	3	0.00133749	.	.	2351463	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.001	B	0.094	N	0.943	D	1.79	L	0.85	T	-0.992	T	0.107	T	0.087	2.967	15.89	1.59	0.260	-0.028	5.508	0.087	0.0172968367489	.	.	0.0014	0	0.0036	0	0	0.0014	0	0.0017	0.0001682	26	154602	rs375711698	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0001	0.0011	0.0008	3.603e-05	0.0002	4.26e-05	0	2.699e-05	0.0021	0.0001	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	7.216e-05	0.0110	0.0003	0	0.0002	0	0	0.0002	0	0.0008	0.014	0.53172	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.093860	0.20203	N	0.495430	0.943478	0.37411	D	1.085	0.27262	L	0.85	0.47130	T	1.8	0.00513	N	0.166	0.17553	-0.9917	0.32167	T	0.107	0.38906	T	10	0.007883549	0.00179	T	0.017297	0.38942	T	0.087	0.25287	0.398	0.42590	0.374255764437	0.37033	0.6217055932956875	0.62103	0.207151095459	0.23157	0.559364676476	0.47179	T	0.073757	0.34775	T	-0.440471	0.01285	T	-0.500569	0.22289	T	0.090799290804407	0.11313	T	0.653235	0.26349	T	0.09299486	0.21832	0.15992217	0.37274	0.09299486	0.21831	0.15992217	0.37273	-3.618	0.18118	T	.	.	0.075	0.05404	B	.	.	1.125843	0.15121	11.60	0.98118057488953137	0.38407	0.45318	0.27512	N	ALL	0.082104	0.16620	N	-0.558141523089289	0.20229	1.064868	-0.537852918632638	0.21128	1.141563	0.999999999967464	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.75	1.59	0.22622	-0.010000	0.12681	0.081000	0.14390	0.676000	0.76740	0.024000	0.20007	0.001000	0.17328	0.932000	0.46971	0.0719:0.3789:0.3984:0.1507	5.508	0.16158	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	95.98	18	chr13	94601935	.	G	T	95.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.878;DP=497;ExcessHet=0.0000;FS=2.141;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.57;ReadPosRankSum=2.81;SOR=0.781	GT:AD:DP:GQ:PL	0/1:16,5:21:99:110,0,437	20	0	1	0
chr13	99970416	99970416	-	GGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1259_1260insGCC:p.P424_A425insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772098205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10227.81	36	chr13	99970413	.	TGGC	T,TGGCGGC	10227.81	.	AC=11,3;AF=0.262,0.071;AN=42;BaseQRankSum=0.619;DP=1251;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=11,3;MLEAF=0.262,0.071;MQ=60.00;MQRankSum=0.00;QD=21.22;ReadPosRankSum=0.351;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,25,0:52:99:.:.:944,0,1003,1025,1079,2104	9	2	7	0
chr13	101229452	101229452	T	C	exonic	NALCN	.	nonsynonymous SNV	NALCN:NM_001350750:exon12:c.A1480G:p.I494V	Congenital contractures of the limbs and face, hypotonia, and developmental delay, Autosomal dominant;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, Autosomal recessive	.	436	1083	3	0	0	3	0.00138313	.	.	688095	NALCN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.52	T	0.976	D	0.875	P	0.000	D	1.000	D	1.945	M	-5.15	D	1.081	D	0.948	D	0.657	4.151	21.4	5.11	2.051	5.817	15.204	0.706	0.203082842531	0.0008	0.000998403	0.0009	9.636e-05	0.0002	0	0.0003	0.0008	0	0.0026	0.0008085	125	154602	rs150580612	0.0010	0.0010	0.0009	0.0010	0.0027	0.0009	0.0009	0.0024	0.0023	0.0003	0.0002	0.0018	0	7.503e-05	0.0010	0.0010	0.0005	0.0027	0.0007	0.0007	0.0007	0.0007	0.0039	0.0006	0.0005	0.0026	0.0021	0.0002	0	0.0007	0.0023	0	9.411e-05	0	0.0008	0.0014	0.0039	0.127	0.27080	T	0.059	0.45961	T	0.844	0.46645	P	0.487	0.47260	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-5.15	0.98780	D	-0.76	0.21215	N	0.298	0.33687	1.081	0.98897	D	0.948	0.98304	D	10	0.029141307	0.01042	T	0.203083	0.86856	D	0.706	0.89468	.	.	0.656282026865	0.65341	0.8310535477586223	0.83064	1.44831164804	0.86095	0.772632420063	0.77819	T	0.570596	0.85775	D	-0.0437868	0.45385	T	0.158779	0.80731	D	0.0782595872879028	0.09763	T	0.859414	0.55137	D	0.4287164	0.62668	0.18756512	0.41996	0.4287164	0.62668	0.18756512	0.41996	-6.254	0.48357	T	0.1940211725228592	0.25550	0.085	0.10014	B	.	.	2.763301	0.36248	20.2	0.99908907371128663	0.97875	0.94094	0.60094	D	AEFCI	0.825769	0.74539	D	0.460024203052514	0.64773	4.739669	0.482445924414965	0.66829	5.003072	0.999999993106766	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	5.773000	0.68552	2.847000	0.35116	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.0:0.0:1.0	15.204	0.72849	860	0.33753	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2487.08	35	chr13	101229452	.	T	C	2487.08	.	AC=2;AF=0.048;AN=42;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.94;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,89:89:99:2515,266,0	20	1	0	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	1289.7	107	chr13	102737670	.	C	G	1289.7	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-5.420e+00;DP=3587;ExcessHet=6.1002;FS=265.418;InbreedingCoeff=-0.4269;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.50;SOR=12.784	GT:AD:DP:GQ:PL	0/1:147,27:182:40:40,0,6427	6	0	10	5
chr13	102737733	102737733	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12964A:p.G4322S,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.000399361	0.0025	0.0009	0	0	0	0.0027	0.0105	0.0029	0.0008667	134	154602	rs201135379	0.0037	0.0036	0.0037	0.0037	0.0043	0.0036	0.0036	0.0042	0.0042	0.0008	0.0008	0.0004	5.597e-05	0.0010	0.0009	0.0043	0.0029	0.0033	0.0022	0.0022	0.0025	0.0018	0.0039	0.0020	0.0019	0.0035	0.0034	0.0008	0	0.0005	0.0012	0	0.0003	0	0.0039	0.0009	0.0025	.	.	.	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.0057035685	0.00127	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.07433698046328129	0.07369	.	.	0.245546251535	0.03313	T	.	.	.	-0.488312	0.00664	T	-0.472974	0.25198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20625	B	.	.	0.196141	0.05818	2.257	0.37996960343091668	0.02537	0.00402	0.02007	N	AEFBI	.	.	.	.	.	.	.	.	.	0.940105724638575	0.27417	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0510869	0.10242	1.82	-1.19	0.09091	0.044000	0.13876	-6.220000	0.01461	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2399:0.3529:0.2366:0.1706	0.697	0.00844	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	0.02381	2352.98	126	chr13	102737733	.	C	T	2352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=2954;ExcessHet=0.0000;FS=0.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=1.09;SOR=0.767	GT:AD:DP:GQ:PL	0/1:95,90:185:99:2367,0,2531	20	0	1	0
chr13	102747739	102747739	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2958C:p.K986N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.071324736	0.10499	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029755569922110755	0.02924	.	.	0.339609414339	0.16379	T	.	.	.	-0.183105	0.23276	T	-0.500794	0.22266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.63867	A	.	.	2.482158	0.32012	18.91	0.76786657609047815	0.11609	0.06593	0.12608	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.974835266602416	0.29578	0.07523	0.01759	0	0.085267	0.02369	0	0.063197	0.01477	0	0.091162	0.02695	0	0.166294	0.28576	4.21	2.49	0.29274	0.370000	0.20166	-0.592000	0.08316	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.974000	0.55675	0.0:0.7826:0.0:0.2174	6.417	0.20924	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2727	319.73	161	chr13	102747739	.	C	G,T	319.73	.	AC=3,3;AF=0.136,0.136;AN=22;BaseQRankSum=-5.526e+00;DP=4353;ExcessHet=1.7912;FS=296.348;InbreedingCoeff=-0.3527;MLEAC=4,4;MLEAF=0.182,0.182;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=1.04;SOR=13.436	GT:AD:DP:GQ:PL	0/1:155,56,22:233:33:33,0,2956,419,3151,5713	5	0	3	10
chr13	110719251	110719251	G	C	exonic	ING1	.	nonsynonymous SNV	ING1:NM_001267728:exon2:c.G108C:p.E36D	Squamous cell carcinoma, head and neck, somatic	.	8	1509	4	1	0	6	0.00198413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.129	B	0.14	B	0.004	N	1.000	N	-0.055	N	0.84	T	-0.970	T	0.045	T	0.054	-1.809	0.009	-6.52	-0.941	-1.095	8.676	0.024	0.00633789217804	0.0005	0.000599042	0.0009	0	0.0003	0	0	0.0010	0	0.0020	0.0007115	110	154602	rs138276642	0.0005	0.0005	0.0004	0.0005	0.0020	0.0005	0.0004	0.0017	0.0016	0	6.708e-05	0.0134	0	0	0.0012	9.083e-05	0.0013	0.0020	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0	0	0	0.0182	0	0	0	0.0001	0	0.0021	1.0	0.16738	T	0.895	0.15602	T	0.0	0.02946	B	0.002	0.06944	B	0.003665	0.34636	N	0.332010	1	0.81001	D	.	.	.	0.84	0.47477	T	0.04	0.10308	N	0.111	0.09772	-0.9697	0.37262	T	0.045	0.19275	T	10	0.003244102	0.00055	T	0.006338	0.16668	T	0.024	0.04979	0.338	0.32816	0.254244900254	0.25046	0.05736288601001435	0.05677	1.03796569451	0.75674	0.530464112759	0.43100	T	0.025902	0.19278	T	-0.645014	0.00078	T	-0.706558	0.05475	T	0.0160968410488355	0.00387	T	0.806819	0.45805	T	.	.	.	.	.	.	.	.	-3.995	0.23729	T	.	.	0.056	0.09288	B	.;.;.;.	.;.;.;.	-0.505994	0.01848	0.148	0.1955308789083853	0.00665	0.09699	0.15396	N	AEFDBCI	0.044636	0.07205	N	-1.41968783469531	0.02466	0.1089312	-1.4647385711663	0.02639	0.1217504	0.999999890866248	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.13	-6.52	0.01703	-1.070000	0.03551	-3.663000	0.02622	0.526000	0.24426	0.017000	0.19353	0.000000	0.08366	0.351000	0.25682	0.1068:0.6016:0.1721:0.1195	8.676	0.33343	982	0.03397	.;.;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding	.	.	.	.	.	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	1	0	0	0	0.04762	2185.11	34	chr13	110719251	.	G	C	2185.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.944;DP=861;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.66;SOR=0.667	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1339,0,1598	19	0	2	0
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,47,0,0,0,0:110:99:.:.:1275,0,2432,1465,2574,4039,1465,2574,4039,4039,1465,2574,4039,4039,4039,1465,2574,4039,4039,4039,4039	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,47,0,0,0,0:110:99:.:.:1275,0,2432,1465,2574,4039,1465,2574,4039,4039,1465,2574,4039,4039,4039,1465,2574,4039,4039,4039,4039	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,47,0,0,0,0:110:99:.:.:1275,0,2432,1465,2574,4039,1465,2574,4039,4039,1465,2574,4039,4039,4039,1465,2574,4039,4039,4039,4039	7	0	5	0
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,36,0:91:99:.:.:902,0,1366,1065,1473,2539	4	5	6	3
chr14	20429871	20429871	G	C	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001109997:exon2:c.C805G:p.L269V	.	.	421	1073	26	2	0	30	0.0137868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.13	B	0.037	B	0.067	N	1.000	N	1.57	L	-0.21	T	-0.888	T	0.199	T	0.129	-0.395	2.147	1.81	0.181	0.166	9.013	0.027	0.0157598847765	0.0026	0.00119808	0.0032	0	0.0025	0	0	0.0023	0.0042	0.0063	0.0007891	122	154602	rs192048256	0.0023	0.0022	0.0021	0.0025	0.0079	0.0022	0.0022	0.0061	0.0054	0.0003	0.0017	0.0019	0	0.0004	0.0079	0.0022	0.0029	0.0054	0.0017	0.0017	0.0015	0.0018	0.0052	0.0015	0.0014	0.0036	0.0031	0.0004	0	0.0020	0.0017	0	0	0.0102	0.0024	0.0043	0.0052	0.208	0.19782	T	0.628	0.07244	T	0.13	0.27095	B	0.037	0.23121	B	0.067181	0.21758	N	0.441570	1	0.08975	N	1.73	0.44655	L	-0.21	0.66294	T	0.15	0.05310	N	0.094	0.07398	-0.8880	0.49105	T	0.199	0.55442	T	10	0.0037027597	0.00068	T	0.01576	0.36670	T	0.027	0.05988	.	.	0.0297737177859	0.01360	0.2933002980905662	0.29243	.	.	0.444276481867	0.31161	T	0.003719	0.03130	T	-0.509382	0.00506	T	-0.502273	0.22112	T	0.0328855422385679	0.02452	T	0.584642	0.21276	T	0.04973287	0.08875	0.060564112	0.11552	0.04973287	0.08875	0.060564112	0.11552	-3.989	0.23639	T	.	.	0.079	0.11893	B	.;.;.	.;.;.	0.492016	0.08614	5.381	0.91765511113169151	0.21067	0.05115	0.10919	N	AEFDGBI	0.087045	0.17650	N	-0.813255969199981	0.12972	0.6358392	-0.831481232801145	0.13733	0.7140395	0.999990607814314	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.631631	0.49550	0	.	.	4.81	1.81	0.24139	0.383000	0.20381	3.139000	0.36475	-0.153000	0.12021	0.057000	0.21666	1.000000	0.68203	0.845000	0.39915	0.0:0.3037:0.5393:0.157	9.013	0.35312	946	0.12043	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1794.98	38	chr14	20429871	.	G	C	1794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.040e+00;DP=1698;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-2.053e+00;SOR=0.680	GT:AD:DP:GQ:PL	0/1:88,77:165:99:1809,0,2302	20	0	1	0
chr14	21022423	21022423	C	A	exonic	NDRG2	.	nonsynonymous SNV	NDRG2:NM_001282216:exon3:c.G29T:p.R10L,	.	.	413	1096	12	1	0	14	0.00634633	.	.	739160	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00559105	0.0020	0	0.0003	0	0	0.0004	0.0011	0.0125	0.0018628	288	154602	rs138902025	0.0012	0.0012	0.0009	0.0016	0.0128	0.0012	0.0011	0.0122	0.0119	0.0001	0.0003	0.0015	0	0.0001	0.0035	0.0005	0.0011	0.0128	0.0008	0.0008	0.0005	0.0010	0.0131	0.0007	0.0006	0.0105	0.0096	2.412e-05	0	0.0012	0.0009	0	9.448e-05	0.0034	0.0005	0	0.0131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1086.98	40	chr14	21022423	.	C	A	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.613e+00;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-3.020e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:40,47:87:99:1101,0,988	20	0	1	0
chr14	35539573	35539573	C	T	exonic	RALGAPA1	.	nonsynonymous SNV	RALGAPA1:NM_001346246:exon40:c.G6224A:p.R2075H	.	.	424	1088	9	1	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.994	D	0.003	N	1.000	D	1.15	L	-3.89	D	1.087	D	0.932	D	0.522	4.491	24.1	5.53	2.751	7.414	19.825	0.623	0.529829740894	0.0005	0.00199681	0.0009	9.63e-05	0.0004	0	0	0.0005	0.0044	0.0037	0.0004995	13	26028	rs146562217	0.0005	0.0005	0.0004	0.0007	0.0044	0.0005	0.0005	0.0041	0.0039	0.0001	0.0002	0.0021	0	5.617e-05	0.0022	0.0002	0.0011	0.0044	0.0004	0.0004	0.0003	0.0005	0.0050	0.0003	0.0003	0.0034	0.0029	4.814e-05	0	6.536e-05	0.0023	0	0	0.0068	0.0002	0.0019	0.0050	0.0	0.91255	D	0.043	0.49942	D	0.999	0.77913	D	0.994	0.82059	D	0.002558	0.36353	N	0.133176	0.999838	0.81001	D	.	.	.	-3.89	0.97830	D	-1.88	0.43906	N	0.381	0.42247	1.087	0.99119	D	0.932	0.97754	D	10	0.014767766	0.00310	T	0.52983	0.95572	D	0.623	0.85406	.	.	0.686157565238	0.68347	.	.	1.93239836197	0.93153	0.860249519348	0.91148	D	0.025289	0.18938	T	-0.0493288	0.44549	T	0.155846	0.80550	D	0.0765182385195581	0.09536	T	0.956004	0.83260	D	.	.	.	.	.	.	.	.	-4.706	0.33477	T	.	.	0.948	0.86689	P	.;.	.;.	2.382458	0.30587	18.48	0.99935064630916237	0.99579	0.98257	0.80997	D	AEFDGI	0.906650	0.85970	D	0.730130781601338	0.81607	7.562174	0.754572498619693	0.86499	8.908572	0.999999998944164	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	7.503000	0.80474	6.039000	0.52998	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.825	0.96608	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1422.98	33	chr14	35539573	.	C	T	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.800e-02;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.73;MQRankSum=-1.475e+00;QD=10.86;ReadPosRankSum=-6.230e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:73,58:131:99:1437,0,1943	20	0	1	0
chr14	37285407	37285407	G	C	exonic	MIPOL1	.	nonsynonymous SNV	MIPOL1:NM_138731:exon8:c.G583C:p.A195P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.31	M	-0.06	T	-0.078	T	0.458	T	0.961	4.736	26.4	5.4	2.539	7.679	19.173	0.552	0.0734123623252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99987	0.52396	D	2.51	0.73131	M	-0.08	0.64264	T	-3.39	0.66896	D	0.943	0.95139	-0.0784	0.80589	T	0.458	0.78912	T	10	0.82348394	0.81539	D	0.073412	0.71782	D	0.552	0.81485	0.153	0.05648	0.909346635454	0.90844	0.7498326337326502	0.74930	0.24159901889	0.26684	0.482930094004	0.36460	T	0.447019	0.78944	T	0.332595	0.85338	D	0.239973	0.85146	D	0.991514444351196	0.81819	D	0.925507	0.72634	D	0.84151787	0.86717	0.8081237	0.88781	0.84151787	0.86718	0.8081237	0.88782	-15.844	0.97518	D	.	.	0.986	0.93065	P	.;.;.;.;.;.	.;.;.;.;.;.	5.603906	0.92480	32	0.99822894961695807	0.90590	0.97976	0.78572	D	AEFI	0.945202	0.95321	D	0.836148564089701	0.88305	9.528976	0.809419349571205	0.90441	10.40855	0.999995069879723	0.74766	0.634777	0.41761	0	0.573888	0.26702	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	5.4	5.4	0.77957	7.821000	0.84782	11.570000	0.93280	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.173	0.93576	932	0.16191	.;.;.;.;.;.	.	.	.	.	.	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	0.02941	110.61	103	chr14	37285407	.	G	C	110.61	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.755e+00;DP=2110;ExcessHet=0.0000;FS=201.742;InbreedingCoeff=-0.0812;MLEAC=1;MLEAF=0.029;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=-7.550e-01;SOR=10.919	GT:AD:DP:GQ:PL	0/1:102,55:157:99:123,0,1451	16	0	1	4
chr14	39246977	39246977	G	A	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001329214:exon4:c.G403A:p.G135S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.760	N	1.000	N	-1.905	N	3.46	T	-0.996	T	0.022	T	0.038	-1.602	0.014	2.88	0.407	0.910	1.591	0.036	0.00444360329764	.	0.000199681	2.845e-05	0.0001	0	0	0	3.319e-05	0	0	3.23e-05	5	154602	rs570181343	9.307e-06	1.231e-05	9.914e-06	8.687e-06	6.454e-05	5.19e-06	4e-06	1.069e-05	4e-06	3.252e-05	6.454e-05	0	5.101e-05	0	0	5.525e-06	1.735e-05	1.364e-05	1.971e-05	1.969e-05	1.286e-05	2.688e-05	7.227e-05	5.24e-06	2.45e-06	1.916e-05	1.031e-05	7.227e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.607	0.07766	T	0.0	0.02946	B	0.0	0.01387	B	0.760102	0.09630	N	0.869674	1	0.08975	N	-2.175	0.00131	N	3.46	0.38556	T	0.77	0.02163	N	0.032	0.00825	-0.9962	0.30974	T	0.022	0.09513	T	9	0.014003068	0.00295	T	0.004444	0.10875	T	0.036	0.09122	0.338	0.32816	0.0716867268079	0.06686	0.06858747717760887	0.06796	0.0234874963738	0.02381	0.24319922924	0.03086	T	0.015979	0.13301	T	-0.520694	0.00436	T	-0.749049	0.03523	T	0.0347655896993612	0.02768	T	0.518548	0.16835	T	0.031411577	0.02975	0.063230716	0.12493	0.031411577	0.02975	0.063230716	0.12492	-2.501	0.05788	T	.	.	0.062	0.01309	B	.;.;.	.;.;.	0.357559	0.07303	3.914	0.31579262367167699	0.01787	0.00983	0.03743	N	AEFBI	0.047772	0.08081	N	-1.29161063151253	0.03776	0.1692621	-1.16387117807943	0.06522	0.314217	0.906163057420775	0.26224	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.24	2.88	0.32617	1.085000	0.30452	1.320000	0.25596	-0.063000	0.16611	0.000000	0.06391	0.000000	0.08366	0.732000	0.35165	0.523:0.1316:0.2185:0.1269	1.591	0.02493	788	0.46569	.;.;.	.	.	.	.	.	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	0.02381	784.98	33	chr14	39246977	.	G	A	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=762;ExcessHet=0.0000;FS=4.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=0.640;SOR=0.793	GT:AD:DP:GQ:PL	0/1:46,32:78:99:799,0,1037	20	0	1	0
chr14	49586032	49586032	C	T	exonic	RPS29	.	nonsynonymous SNV	RPS29:NM_001030001:exon2:c.G80A:p.R27Q	Diamond-Blackfan anemia 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.083	B	0.016	B	0.000	D	1.000	D	.	.	.	.	-0.980	T	0.123	T	0.722	3.761	19.09	6.06	2.882	5.575	19.185	0.174	0.103728851759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.08115	T	0.495	0.15355	T	0.003	0.11197	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-1.09	0.32590	N	0.78	0.79118	-0.9797	0.35071	T	0.123	0.42589	T	8	0.3362448	0.50768	T	0.103729	0.77792	D	0.174	0.44019	0.42	0.46200	0.227934060464	0.22382	0.8578765483497026	0.85750	1.42041158523	0.85606	0.835893034935	0.87468	D	0.426055	0.77597	T	0.188761	0.72849	D	0.0333663	0.72496	D	0.981718182563782	0.74070	D	0.80142	0.46084	T	0.6506185	0.75397	0.4888436	0.70423	0.6506185	0.75398	0.4888436	0.70423	-7.582	0.63377	D	0.09475712425302887	0.06377	0.237	0.64062	B	.;.;.;.;.;.	.;.;.;.;.;.	4.711783	0.75700	26.4	0.99759148360519512	0.84931	0.72858	0.35649	D	ALL	0.870239	0.79113	D	0.0403471399827219	0.43701	2.657809	0.25238241552367	0.52785	3.451043	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	6.06	6.06	0.98340	7.404000	0.79226	7.548000	0.60216	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.185	0.93625	802	0.44336	.;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site	.	.	.	.	.	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	0.04762	64.11	40	chr14	49586032	.	C	T	64.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.501e+00;DP=1431;ExcessHet=0.1072;FS=121.785;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=59.98;MQRankSum=0.00;QD=0.19;ReadPosRankSum=2.54;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,16:141:22:0|1:49586032_C_T:22,0,4050:49586032	19	0	2	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:43,22:65:99:188,0,854	0	0	21	0
chr14	68792964	68792964	C	T	exonic	ZFP36L1	.	nonsynonymous SNV	ZFP36L1:NM_001244701:exon2:c.G182A:p.R61H,	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.958	D	.	.	.	.	-0.698	T	0.174	T	0.142	1.526	11.05	3.34	1.920	0.249	10.644	0.019	.	7.7e-05	0.000199681	0.0002	0	8.646e-05	0.0002	0	6e-05	0	0.0010	0.0001552	24	154602	rs139683444	0.0001	0.0001	7.899e-05	0.0002	0.0012	0.0001	0.0001	0.0010	0.0010	0	0.0001	0.0005	5.039e-05	0	0.0009	2.788e-05	0.0002	0.0012	8.539e-05	9.187e-05	0.0001	5.375e-05	0.0004	4.956e-05	3.961e-05	7.29e-05	5.088e-05	2.407e-05	0	0	0	0.0002	0	0	0.0001	0	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.957908	0.38048	D	.	.	.	.	.	.	-0.05	0.07736	N	.	.	-0.6977	0.60548	T	0.174	0.51690	T	4	0.020316869	0.00466	T	.	.	.	0.019	0.03383	.	.	0.082315109003	0.07666	.	.	.	.	0.367200553417	0.20429	T	.	.	.	-0.427299	0.01539	T	-0.432114	0.29695	T	0.169451042815371	0.18543	T	0.360864	0.08314	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.28920	B	.	.	1.934060	0.24567	16.44	0.97843239963417039	0.36345	0.17151	0.19711	N	ALL	0.101853	0.20446	N	-0.257223425016654	0.30815	1.721856	-0.337285855725426	0.26905	1.489227	0.999999999999986	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.28	3.34	0.37357	0.274000	0.18443	1.400000	0.26189	0.599000	0.40250	0.005000	0.17040	0.005000	0.19230	0.090000	0.17789	0.191:0.809:0.0:0.0	10.644	0.44803	625	0.65529	.	.	.	.	.	.	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	0.02381	1209.98	34	chr14	68792964	.	C	T	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.859e+00;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-9.090e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:31,54:85:99:1224,0,692	20	0	1	0
chr14	69054396	69054396	C	T	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon9:c.G2287A:p.D763N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.447	B	0.25	B	0.000	D	1.000	D	0.805	L	0.13	T	-0.750	T	0.221	T	0.059	0.829	8.342	3.92	1.243	3.637	13.300	0.081	0.0442769391499	.	.	2.478e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs780297054	1.026e-05	1.026e-05	8.168e-06	1.238e-05	0.0002	6.16e-06	4.89e-06	7.123e-05	5.481e-05	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.138	0.33894	T	0.319	0.32965	B	0.127	0.32738	B	0.000399	0.44960	D	0.096931	0.954442	0.37878	D	0.805	0.20218	L	-0.5	0.70480	T	-0.6	0.17834	N	0.178	0.51851	-0.7501	0.57930	T	0.221	0.58485	T	10	0.09822461	0.17746	T	0.044277	0.61408	D	0.081	0.23632	0.211	0.12923	0.343804874344	0.33996	0.08786702182348162	0.08719	0.289761338798	0.31384	0.470105290413	0.34695	T	0.020825	0.16329	T	-0.337615	0.05555	T	-0.486069	0.23803	T	0.113076832603842	0.13739	T	0.838216	0.51127	T	0.12397771	0.29101	0.11987186	0.28932	0.12397771	0.29100	0.11987186	0.28931	-3.691	0.19185	T	.	.	0.083	0.21466	B	.;.;.;.	.;.;.;.	3.247344	0.44358	21.9	0.97911204010814423	0.36815	0.95186	0.63755	D	AEFDBI	0.315177	0.41983	N	-0.356385541445597	0.27039	1.48034	-0.274151125847166	0.28954	1.618325	0.999999770611412	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	4.81	3.92	0.44525	3.688000	0.54430	4.901000	0.45859	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.093000	0.17941	0.0:0.9232:0.0:0.0768	13.300	0.59752	877	0.30165	.;.;.;.	.	.	.	.	.	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	0.02381	1182.98	35	chr14	69054396	.	C	T	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.484;SOR=0.651	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1197,0,1217	20	0	1	0
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/1:0,15,0:15:45:652,45,0,652,45,652	0	19	0	0
chr14	72937999	72937999	G	C	exonic	DCAF4	.	nonsynonymous SNV	DCAF4:NM_001163508:exon2:c.G21C:p.Q7H	.	.	424	1090	8	0	0	8	0.00365631	.	.	2358897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.002	B	0.003	B	0.705	N	1.000	N	1.1	L	0.47	T	-0.910	T	0.186	T	0.13	2.160	13.18	1.41	0.310	0.243	3.886	0.053	0.0336507614498	0.0002	0.000399361	0.0004	9.992e-05	0.0003	0	0	0.0002	0.0011	0.0014	0.000304	47	154602	rs151012011	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	6.1e-05	0.0001	3.874e-05	0	1.881e-05	0.0026	0.0002	0.0003	0.0014	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	9.694e-05	0.0004	0.0003	4.812e-05	0	6.534e-05	0	0	0	0	0.0002	0	0.0010	0.014	0.61437	D	0.364	0.17014	T	0.001	0.09854	B	0.001	0.04355	B	0.704571	0.06223	N	1.149400	1	0.08975	N	1.65	0.42232	L	0.47	0.68329	T	-0.79	0.26200	N	0.116	0.18376	-0.9097	0.46891	T	0.186	0.53541	T	10	0.007843971	0.00178	T	0.033651	0.55129	D	0.053	0.14996	0.148	0.05138	0.348764635752	0.34483	0.39810288301288643	0.39725	0.679773240705	0.59950	.	.	.	0.004401	0.03807	T	-0.45113	0.01112	T	-0.461326	0.26455	T	0.0199312993544112	0.00694	T	0.70183	0.31167	T	0.060677912	0.12478	0.050065093	0.07782	0.060677912	0.12477	0.050065093	0.07781	-3.288	0.14602	T	.	.	0.124	0.36174	B	.;.;.;.	.;.;.;.	1.369446	0.17795	13.37	0.97883581960505717	0.36621	0.04499	0.10120	N	AEFDBI	0.040007	0.05890	N	-0.856795631226332	0.11884	0.5760062	-0.876279804510012	0.12657	0.6523564	0.835395817691741	0.24769	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.63	1.41	0.21461	0.129000	0.15656	-0.051000	0.12545	0.526000	0.24426	0.009000	0.18154	0.000000	0.08366	0.811000	0.38219	0.2832:0.2676:0.4492:0.0	3.886	0.08605	795	0.45444	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	957.98	34	chr14	72937999	.	G	C	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.768e+00;DP=1021;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-2.325e+00;SOR=0.902	GT:AD:DP:GQ:PL	0/1:33,37:70:99:972,0,937	20	0	1	0
chr14	73259407	73259407	C	T	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon15:c.C1847T:p.P616L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.003	B	.	.	1.000	N	1.59	L	0.33	T	-0.971	T	0.168	T	0.061	0.653	7.502	-0.024	-0.258	-0.338	9.014	0.061	0.0161915318238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.093	0.39799	T	0.0	0.02946	B	0.002	0.08700	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	0.03	0.62183	T	-3.23	0.65397	D	0.067	0.04188	-0.9714	0.36904	T	0.168	0.50762	T	9	0.07482156	0.11485	T	0.016192	0.37323	T	0.061	0.17616	0.256	0.19689	0.0884992946249	0.08302	0.32467689779245634	0.32380	0.192353595073	0.21563	0.294437974691	0.09574	T	0.015849	0.13217	T	-0.262745	0.12580	T	-0.615192	0.11566	T	0.0557635079005666	0.06484	T	0.654634	0.26482	T	0.04135852	0.06077	0.05821763	0.10720	0.04135852	0.06076	0.05821763	0.10720	-4.354	0.28927	T	.	.	0.070	0.04681	B	.;.;.;.	.;.;.;.	-0.189359	0.03145	0.508	0.62752530586486843	0.07044	0.05672	0.11589	N	AEFDGBI	0.066654	0.13064	N	-1.43851100919599	0.02308	0.1017847	-1.51667286026961	0.02215	0.1015605	0.999666027747423	0.41534	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	2.87	-0.0235	0.13269	-0.690000	0.05240	-0.729000	0.07670	-1.051000	0.01640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7091:0.0:0.2909	9.014	0.35321	748	0.52143	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	826.98	33	chr14	73259407	.	C	T	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.160e-01;DP=791;ExcessHet=0.0000;FS=1.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.71;ReadPosRankSum=0.391;SOR=0.887	GT:AD:DP:GQ:PL	0/1:57,38:95:99:841,0,1451	20	0	1	0
chr14	76177923	76177923	C	T	exonic	GPATCH2L	.	stopgain	GPATCH2L:NM_017972:exon6:c.C1084T:p.R362X	.	.	469	1019	30	4	0	38	0.0183044	.	.	2810561	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	5.654	36	4.32	1.323	2.065	12.347	.	.	0.0035	0.00359425	0.0045	0.0017	0.0049	0	0.0003	0.0053	0.0166	0.0061	0.0043855	678	154602	rs117516637	0.0042	0.0043	0.0040	0.0044	0.0327	0.0041	0.0041	0.0288	0.0273	0.0013	0.0062	0.0080	0	0.0005	0.0327	0.0040	0.0062	0.0060	0.0038	0.0038	0.0040	0.0037	0.0077	0.0036	0.0035	0.0066	0.0062	0.0011	0	0.0077	0.0095	0.0002	0	0.0306	0.0049	0.0061	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.408	0.44857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.303757	0.08310	T	-0.206491	0.54031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.767942	0.54107	23.4	0.9969627417015734	0.80316	0.92029	0.54788	D	AEFGBI	0.113998	0.22470	N	-0.146814314135127	0.35369	2.030754	-0.0591147514923771	0.37098	2.167655	0.999986360647847	0.51787	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.2	4.32	0.50899	2.830000	0.47837	4.035000	0.41373	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9213:0.0:0.0787	12.347	0.54450	604	0.67577	.;.	.	.	.	.	.	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	0.04762	1499.11	36	chr14	76177923	.	C	T	1499.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.71;DP=822;ExcessHet=0.1072;FS=5.553;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.433;SOR=1.226	GT:AD:DP:GQ:PL	0/1:34,26:60:99:781,0,912	19	0	2	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,15,0:26:99:0|1:77027445_C_T:596,0,417,630,462,1092:77027445	1	6	8	5
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,15,0:26:99:0|1:77027445_C_T:597,0,417,630,462,1092:77027445	6	6	8	0
chr14	88840883	88840883	A	G	exonic	TTC8	.	nonsynonymous SNV	TTC8:NM_001366535:exon3:c.A254G:p.K85R	Bardet-Biedl syndrome 8, Autosomal recessive	.	0	1473	45	4	0	53	0.0176726	.	.	193761	not_specified|Bardet-Biedl_syndrome_8|not_provided|Bardet-Biedl_syndrome|Retinitis_pigmentosa	MedGen:CN169374|MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|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	.	.	.	.	.	.	.	.	0.73	T	0.865	P	0.824	P	0.000	D	1.000	D	0.29	N	-1.02	T	-0.968	T	0.106	T	0.372	1.455	10.81	5.09	1.903	4.963	14.859	0.138	.	0.0032	0.0071885	0.0059	0.0006	0.0030	0	0.0005	0.0040	0.0122	0.0240	0.005595	865	154602	rs150880478	0.0047	0.0047	0.0040	0.0053	0.0232	0.0046	0.0045	0.0223	0.0220	0.0005	0.0035	0.0008	0	0.0006	0.0177	0.0038	0.0050	0.0232	0.0035	0.0035	0.0034	0.0036	0.0263	0.0033	0.0032	0.0226	0.0212	0.0007	0	0.0042	0.0014	0	0.0006	0.0238	0.0042	0.0057	0.0263	0.574	0.08660	T	1.0	0.08808	T	0.003	0.12996	B	0.003	0.16862	B	0.000000	0.84330	D	0.048705	0.998721	0.81001	D	0.63	0.15941	N	-1.07	0.76948	T	-0.35	0.17210	N	0.13	0.24135	-0.9675	0.37713	T	0.106	0.38734	T	10	0.007837504	0.00178	T	.	.	.	0.349	0.67049	.	.	0.815756240397	0.81402	0.32855384335387705	0.32768	0.469398045918	0.46249	0.551525473595	0.46072	T	0.04129	0.25811	T	-0.327425	0.06309	T	-0.225514	0.52205	T	0.0430550078249923	0.04247	T	0.871513	0.70013	D	.	.	.	.	.	.	.	.	-3.003	0.10213	T	.	.	0.066	0.04002	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.496810	0.32224	18.98	0.98253644681263119	0.39594	0.87280	0.46771	D	AEFDGBI	0.523395	0.54702	D	0.121874717811164	0.47484	2.973543	0.232126589072069	0.51640	3.344667	0.999999556930636	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	4.991000	0.63616	9.335000	0.80166	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	14.859	0.69997	410	0.82135	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.04762	7561.11	33	chr14	88840883	.	A	G	7561.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=1280;ExcessHet=0.1072;FS=1.769;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-8.740e-01;SOR=0.567	GT:AD:DP:GQ:PL	0/1:154,140:294:99:3364,0,3900	19	0	2	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,26,0,0,0,0,0:47:99:.:.:988,0,740,1055,818,1873,1055,818,1873,1873,1055,818,1873,1873,1873,1055,818,1873,1873,1873,1873,1055,818,1873,1873,1873,1873,1873	1	5	3	0
chr14	92676516	92676516	T	C	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon7:c.T2152C:p.Y718H	.	.	419	1101	2	0	0	2	0.000907441	.	.	3226502	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.715	M	0.9	T	-0.442	T	0.225	T	0.786	4.653	25.6	4.66	1.739	7.945	14.112	0.576	0.0707620000594	0.0046	0.00159744	0.0038	0.0012	0.0017	0	0.0009	0.0062	0.0044	0.0001	0.0038615	597	154602	rs147042536	0.0051	0.0051	0.0052	0.0051	0.0062	0.0050	0.0050	0.0061	0.0061	0.0007	0.0025	0.0040	0	0.0012	0.0014	0.0062	0.0034	0.0004	0.0039	0.0039	0.0042	0.0036	0.0069	0.0037	0.0036	0.0064	0.0062	0.0009	0	0.0038	0.0032	0	0.0012	0	0.0069	0.0047	0.0004	0.024	0.47745	D	0.008	0.67890	D	0.983	0.60381	D	0.779	0.57244	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.77	0.80896	M	0.9	0.45248	T	-4.36	0.76980	D	0.839	0.83473	-0.4420	0.70664	T	0.225	0.58957	T	10	0.01881826	0.00413	T	0.070762	0.71089	D	0.576	0.82855	.	.	0.813178445668	0.81142	0.8644241932507994	0.86406	1.07114947987	0.76813	0.86321491003	0.91584	D	0.304409	0.71237	T	-0.199635	0.20858	T	-0.0485078	0.67125	D	0.0217646040062449	0.00882	T	0.936106	0.77228	D	0.48705512	0.66327	0.39344192	0.64063	0.48705512	0.66327	0.39344192	0.64063	-11.994	0.84822	D	.	.	0.968	0.89096	P	.;.	.;.	5.043444	0.83965	28.2	0.99878313319672407	0.95491	0.91746	0.54176	D	AEFDGBCI	0.939125	0.93929	D	0.687938574701677	0.78842	6.953715	0.632520874454762	0.77313	6.655596	0.999999999999711	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.66	4.66	0.57857	7.923000	0.86956	7.840000	0.70487	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.112	0.64658	900	0.24599	VPS9 domain|VPS9 domain|VPS9 domain;VPS9 domain|VPS9 domain|VPS9 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	0.02381	1183.98	33	chr14	92676516	.	T	C	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.978;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=0.357;SOR=0.732	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1198,0,1105	20	0	1	0
chr14	94100772	94100772	G	A	splicing	IFI27L1	NM_145249:exon3:c.61+1G>A;NM_206949:exon3:c.61+1G>A	.	.	.	.	415	1075	30	2	0	34	0.0155678	1.0000	0.934	2402208	Susceptibility_to_severe_COVID-19	.	no_assertion_criteria_provided	Likely_risk_allele	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.170	13.21	2.98	2.032	0.606	9.821	.	.	0.0002	0.00199681	0.0015	9.804e-05	0.0004	0	0	0.0010	0.0044	0.0066	0.0013519	209	154602	rs144379529	0.0010	0.0010	0.0008	0.0013	0.0136	0.0010	0.0010	0.0112	0.0103	8.963e-05	0.0006	0.0031	2.519e-05	1.882e-05	0.0136	0.0006	0.0016	0.0069	0.0009	0.0009	0.0006	0.0011	0.0062	0.0007	0.0007	0.0045	0.0039	7.228e-05	0	0.0021	0.0032	0.0002	0	0.0102	0.0007	0.0009	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.221173	0.17834	T	-0.0861905	0.64448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.107629	0.41902	21.4	0.98652801330732154	0.44220	0.48862	0.28303	N	AEFGBI	.	.	.	0.660259185449755	0.77032	6.597697	0.388974521407639	0.60886	4.281241	0.999999705434156	0.74766	0.294411	0.05044	0	0.332522	0.05826	0	0.175069	0.04249	0	0.092715	0.02821	0	0.92792	0.58901	2.98	2.98	0.33575	1.002000	0.29397	2.846000	0.35110	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	9.821	0.40051	365	0.84644	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2080.11	34	chr14	94100772	.	G	A	2080.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.69;DP=947;ExcessHet=0.1072;FS=3.288;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.578;SOR=0.485	GT:AD:DP:GQ:PL	0/1:48,31:79:99:780,0,1251	19	0	2	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,59:123:99:.:.:721,0,919	0	0	21	0
chr14	100123541	100123541	C	A	exonic	EVL	.	nonsynonymous SNV	EVL:NM_001330221:exon4:c.C355A:p.P119T	.	.	426	1091	5	0	0	5	0.00228624	.	.	2378848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	1.000	D	2.495	M	0.41	T	0.292	D	0.633	D	0.532	3.411	17.52	5.22	2.432	3.518	15.488	0.314	0.112617856443	0.0002	0.000399361	0.0002	0	0.0003	0	0	0.0002	0	0.0006	0.0001746	27	154602	rs141817237	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0001	0.0007	2.519e-05	0	0.0019	8.634e-05	0.0003	0.0006	0.0001	0.0001	0.0001	8.058e-05	0.0002	7.087e-05	5.744e-05	0.0001	7.895e-05	0	0	0	0.0006	0	0	0.0068	0.0002	0	0.0002	0.004	0.91255	D	0.051	0.52060	T	0.201	0.90584	B	0.118	0.86255	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.535	0.73915	M	-0.69	0.78860	T	-5.77	0.91609	D	0.477	0.55106	0.292	0.87427	D	0.633	0.87127	D	10	0.14647883	0.27771	T	0.112618	0.79083	D	0.314	0.63588	.	.	0.733819335902	0.73144	0.2953604586173116	0.29449	0.662172756864	0.58958	0.480947971344	0.36187	T	0.65838	0.89718	D	-0.128531	0.31733	T	-0.0649176	0.65987	T	0.713741898536682	0.41384	D	0.893211	0.91493	D	0.59055734	0.72181	0.43985692	0.67324	0.59055734	0.72182	0.43985692	0.67325	-9.041	0.67961	D	.	.	0.070	0.08997	B	.;.;.;.;.;.	.;.;.;.;.;.	3.943087	0.57716	23.9	0.99331312211431155	0.59777	0.96475	0.69324	D	AEFDBI	0.485392	0.52500	N	0.533543245372391	0.69087	5.307397	0.541970309419874	0.70841	5.564801	0.999999999980973	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.693117	0.63056	0	0.727631	0.95156	0	.	.	5.22	5.22	0.72285	3.746000	0.54846	4.794000	0.44921	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.488	0.75310	970	0.06235	.;.;.;.;.;.	.	.	.	.	.	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	0.04762	2077.11	34	chr14	100123541	.	C	A	2077.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.034e+00;DP=816;ExcessHet=0.1072;FS=3.574;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-6.190e-01;SOR=0.467	GT:AD:DP:GQ:PL	0/1:38,37:75:99:863,0,952	19	0	2	0
chr14	102929723	102929723	A	G	exonic	AMN	.	nonsynonymous SNV	AMN:NM_030943:exon8:c.A829G:p.T277A,	Megaloblastic anemia-1, Norwegian type, Autosomal recessive	.	1	1508	12	1	0	14	0.00462046	.	.	463536	not_provided|Imerslund-Grasbeck_syndrome_type_2|Imerslund-Grasbeck_syndrome	MedGen:C3661900|MONDO:MONDO:0100157,MedGen:C4016948,OMIM:618882|MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.9	T	0.0	B	0.001	B	0.874	N	1.000	N	-0.805	N	-2.31	D	-0.836	T	0.145	T	0.049	-0.376	2.232	-4.48	-1.388	-0.712	0.378	0.172	.	0.0039	0.00419329	0.0073	0.0017	0.0053	0	0	0.0064	0	0.0101	0.0023027	356	154602	rs146499374	0.0065	0.0063	0.0064	0.0066	0.0090	0.0064	0.0063	0.0084	0.0082	0.0010	0.0042	0.0006	2.791e-05	0.0013	0.0083	0.0071	0.0061	0.0090	0.0046	0.0046	0.0050	0.0041	0.0122	0.0043	0.0042	0.0097	0.0088	0.0014	0	0.0051	0.0006	0.0002	0.0009	0.0068	0.0070	0.0057	0.0122	0.643	0.04957	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.873612	0.08807	N	0.938751	1	0.08975	N	-0.345	0.03330	N	-2.31	0.87750	D	-1.22	0.30964	N	0.052	0.02366	-0.8357	0.52930	T	0.145	0.46859	T	10	0.005910963	0.00132	T	.	.	.	0.172	0.43662	.	.	0.51372946856	0.51013	0.5116510112497509	0.51087	0.499344733877	0.48381	0.630509853363	0.57217	T	0.20673	0.56616	T	-0.5652	0.00236	T	-0.576686	0.14842	T	0.00274068564030419	0.00029	T	0.314569	0.06202	T	0.10823081	0.25591	0.059538513	0.11192	0.14896157	0.33982	0.058929633	0.10973	-1.422	0.01612	T	0.1713030324696439	0.21586	0.064	0.01622	B	.	.	-0.379896	0.02290	0.240	0.54873868305836648	0.05225	0.00491	0.02326	N	AEFDBCI	0.033131	0.03873	N	-1.66297529157831	0.00982	0.0425456	-1.69061325194044	0.01179	0.05307433	0.99988050737161	0.44867	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	3.07	-4.48	0.03267	-1.920000	0.01662	-0.277000	0.10300	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	0.4213:0.2089:0.1811:0.1887	0.378	0.00364	502	0.75873	.	.	.	.	.	.	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	0.02381	309.98	40	chr14	102929723	.	A	G	309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.706;DP=786;ExcessHet=0.0000;FS=1.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.21;ReadPosRankSum=2.00;SOR=0.941	GT:AD:DP:GQ:PL	0/1:28,15:43:99:324,0,688	20	0	1	0
chr14	104707532	104707537	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1265_1270del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	83	1105	145	104	85	438	0.137729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15742.8	47	chr14	104707525	.	ACCCCACCCCCAC	A,ACCCCAC	15742.8	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=0.324;DP=1468;ExcessHet=0.0509;FS=2.176;InbreedingCoeff=0.3577;MLEAC=10,4;MLEAF=0.238,0.095;MQ=60.00;MQRankSum=0.00;QD=30.55;ReadPosRankSum=1.57;SOR=0.392	GT:AD:DP:GQ:PL	0/2:3,0,11:14:73:438,447,556,0,109,73	11	3	4	0
chr14	104942808	104942808	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C12343T:p.H4115Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.975	D	0.986	D	0.081	U	1.000	N	2.565	M	4.56	T	-1.115	T	0.025	T	0.214	0.029	4.163	3.08	1.573	2.636	7.384	0.056	0.00815061457905	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1427799878	2.053e-06	2.052e-06	1.362e-06	2.751e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.995e-07	1.657e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.099	0.38891	T	0.975	0.58077	D	0.986	0.76916	D	0.081263	0.20876	U	0.240256	1	0.08975	N	2.24	0.63355	M	4.56	0.01933	T	-2.06	0.47175	N	0.277	0.31365	-1.1149	0.02681	T	0.025	0.10688	T	10	0.19350597	0.35123	T	0.008151	0.21598	T	0.056	0.15993	0.267	0.21418	0.144782658237	0.14088	0.011231820960687745	0.01083	.	.	0.267668247223	0.05839	T	0.023916	0.18170	T	-0.294573	0.09181	T	-0.564056	0.15999	T	0.440491825342178	0.30448	T	0.756624	0.37993	T	0.07097241	0.15677	0.08293653	0.18968	0.07097241	0.15676	0.08293653	0.18968	-7.749	0.59348	D	.	.	0.153	0.33823	B	.	.	2.282725	0.29193	18.04	0.9458279792870482	0.25126	0.26585	0.23035	N	AEFBI	.	.	.	0.115619109950379	0.47191	2.948317	-0.104043557233146	0.35226	2.035543	0.229271474234076	0.18446	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.08	3.08	0.34576	1.890000	0.39362	0.588000	0.19789	0.612000	0.49041	0.026000	0.20160	0.000000	0.08366	0.017000	0.10941	0.0:0.0:0.74:0.26	7.384	0.26048	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5052.98	261	chr14	104942808	.	G	A	5052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.739e+00;DP=5723;ExcessHet=0.0000;FS=3.406;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.84;MQRankSum=-9.690e-01;QD=19.59;ReadPosRankSum=-1.364e+00;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,132:258:99:0|1:104942808_G_A:5067,0,4800:104942808	20	0	1	0
chr14	104942817	104942817	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C12334T:p.L4112F	.	.	.	.	.	.	.	.	.	.	.	2438504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.562	P	0.437	B	0.928	U	1.000	N	2.52	M	4.37	T	-0.938	T	0.010	T	0.191	1.939	12.44	-5.01	-0.637	-0.537	0.831	0.064	0.00207167928624	.	.	1.666e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs775778984	7.528e-06	1.094e-05	5.447e-06	9.63e-06	3.478e-05	4.04e-06	2.95e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	5.397e-06	3.314e-05	3.478e-05	0	2.629e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.254	0.16903	T	0.33	0.18560	T	0.562	0.38380	P	0.437	0.45591	B	0.928047	0.07518	U	1.066680	1	0.08975	N	1.69	0.43327	L	4.37	0.02277	T	-0.75	0.21003	N	0.13	0.12484	-0.9376	0.42994	T	0.010	0.03811	T	10	0.093654424	0.16590	T	0.002072	0.03801	T	0.064	0.18567	0.302	0.27003	0.0138822411134	0.00435	0.009189122105641847	0.00881	.	.	0.230867519975	0.02033	T	0.025562	0.19092	T	-0.301634	0.08506	T	-0.671053	0.07541	T	0.0828695744276047	0.10350	T	0.539346	0.18229	T	0.024057297	0.01201	0.036863565	0.03218	0.024057297	0.01201	0.036863565	0.03217	-7.231	0.55703	T	.	.	0.115	0.23077	B	.	.	0.162939	0.05532	1.993	0.92338334620073936	0.21737	0.01426	0.04804	N	AEFBI	.	.	.	-1.22313245087032	0.04666	0.2110752	-1.45007783367353	0.02769	0.1279822	0.67005504194832	0.22365	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.61	-5.01	0.02768	-1.550000	0.02284	-20.000000	0.00162	-0.807000	0.03101	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1574:0.2456:0.2305:0.3665	0.831	0.01058	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5016.98	261	chr14	104942817	.	G	A	5016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=5718;ExcessHet=0.0000;FS=3.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.83;MQRankSum=-9.650e-01;QD=19.67;ReadPosRankSum=-2.254e+00;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,131:255:99:0|1:104942808_G_A:5031,0,4754:104942808	20	0	1	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,10,0:74:99:.:.:248,0,2533,440,2583,3023	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,10,12:63:34:0|1:20534647_C_*:307,0,1636,34,1176,1964:20534647	5	0	14	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,10,0:64:99:.:.:257,0,2146,416,2024,2384	7	0	12	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,10,0:64:99:.:.:257,0,2146,416,2024,2384	7	0	12	1
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,10,12:55:47:0|1:20534647_C_*:352,47,1444,0,950,1330:20534647	6	0	11	2
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F,	.	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	7981.03	35	chr15	21652117	.	A	C	7981.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.67;DP=1245;ExcessHet=1.7912;FS=1.131;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=28.20;MQRankSum=-5.080e-01;QD=11.27;ReadPosRankSum=0.254;SOR=0.597	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1135,0,1058	15	0	6	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F,	.	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13026.03	35	chr15	21652190	.	C	T	13026.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.04;DP=1982;ExcessHet=1.7912;FS=3.181;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.24;MQRankSum=-2.000e-03;QD=11.47;ReadPosRankSum=0.342;SOR=0.777	GT:AD:DP:GQ:PL	0/1:89,81:170:99:1852,0,2092	15	0	6	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L,	.	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18653.03	35	chr15	21652283	.	G	C	18653.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.441;DP=1829;ExcessHet=1.7912;FS=3.282;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.90;MQRankSum=-5.490e-01;QD=18.62;ReadPosRankSum=0.182;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,67:146:99:0|1:21652283_G_C:2555,0,3044:21652283	15	0	6	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D,	.	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18491.03	35	chr15	21652290	.	C	A	18491.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-6.300e-01;DP=1815;ExcessHet=1.7912;FS=3.262;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.87;MQRankSum=-4.920e-01;QD=18.57;ReadPosRankSum=0.519;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,66:144:99:0|1:21652283_G_C:2537,0,3021:21652283	15	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	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	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2063,189,0	1	16	3	1
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3501.0	88	chr15	23361381	.	G	A,*	3501.0	.	AC=3,8;AF=0.071,0.190;AN=42;BaseQRankSum=-1.903e+00;DP=1729;ExcessHet=7.7275;FS=0.553;InbreedingCoeff=-0.3548;MLEAC=3,8;MLEAF=0.071,0.190;MQ=58.26;MQRankSum=0.843;QD=2.89;ReadPosRankSum=1.65;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,49,0:83:99:.:.:1178,0,828,1280,975,2255	10	0	3	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,96,77:173:99:.:.:6355,2586,2975,3814,0,3566	0	0	2	0
chr15	24677785	24677785	G	A	exonic	NPAP1	.	nonsynonymous SNV	NPAP1:NM_018958:exon1:c.G1918A:p.G640R,	.	.	414	1094	13	1	0	15	0.0068089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.991	D	0.686	P	0.030	N	1.000	N	1.04	L	2.83	T	-1.069	T	0.032	T	0.178	0.922	8.754	-0.964	-0.311	-0.273	1.874	0.079	0.00140767441602	0.0002	0.000599042	0.0006	0	0.0008	0	0	0.0003	0.0033	0.0026	0.0005304	82	154602	rs144839857	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	5.974e-05	0.0004	3.826e-05	0	1.873e-05	0.0035	9.352e-05	0.0006	0.0021	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0001	0.0013	0.0010	0	0	0.0006	0	0	0	0	0.0002	0.0014	0.0023	0.016	0.51853	D	0.118	0.36233	T	0.991	0.64070	D	0.686	0.53639	P	0.030319	0.01718	N	2.432560	1	0.08975	N	1.5	0.37844	L	2.83	0.10771	T	-2.34	0.51811	N	0.187	0.20395	-1.0685	0.09746	T	0.032	0.13811	T	10	0.0069537163	0.00158	T	0.001408	0.02088	T	0.079	0.23065	0.096	0.01287	0.0716867268079	0.06686	0.0350933055062958	0.03456	0.248661921543	0.27429	0.33359760046	0.15476	T	0.024905	0.18728	T	-0.618266	0.00113	T	-0.665799	0.07881	T	0.0422191578601324	0.04096	T	0.39586	0.09952	T	0.098437615	0.23219	0.08860432	0.20670	0.098437615	0.23219	0.08860432	0.20670	-3.579	0.17553	T	.	.	0.173	0.37858	B	.	.	0.988186	0.13658	10.20	0.92146753768705292	0.21506	0.00373	0.01896	N	AEFI	0.030861	0.03186	N	-0.646558293038534	0.17560	0.9046559	-0.909455008649187	0.11871	0.607403	9.55077490641747E-4	0.08054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.28	-0.964	0.09799	-0.235000	0.09031	-0.376000	0.09574	-0.375000	0.05424	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.2296:0.0:0.4503:0.3201	1.874	0.03019	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2377.98	177	chr15	24677785	.	G	A	2377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=2672;ExcessHet=0.0000;FS=1.859;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=0.443;SOR=0.848	GT:AD:DP:GQ:PL	0/1:96,81:177:99:2392,0,2568	20	0	1	0
chr15	28702471	28702471	C	G	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon17:c.G1561C:p.D521H,	.	.	222	1279	21	0	0	21	0.00814269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0047	0.0015	0.0043	0.0023	0.0006	0.0031	0.0110	0.0085	0.0002305	6	26028	rs200253339	0.0012	0.0011	0.0010	0.0013	0.0050	0.0011	0.0011	0.0044	0.0043	0.0002	0.0009	0.0046	0.0010	0.0003	0.0050	0.0008	0.0016	0.0048	0.0009	0.0010	0.0008	0.0011	0.0021	0.0008	0.0007	0.0010	0.0007	0.0003	0	0.0009	0.0071	0.0003	0.0003	0.0075	0.0010	0.0012	0.0021	0.014	0.53172	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.987914	0.24467	N	.	.	.	2.87	0.10386	T	-3.47	0.67824	D	0.307	0.34659	.	.	.	.	.	.	.	0.009870201	0.00221	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.1760622624823617	0.17525	1.38852244081	0.84936	.	.	.	0.167321	0.51390	T	-0.594185	0.00158	T	-0.626016	0.10718	T	.	.	.	0.758824	0.38273	T	0.101773426	0.24043	0.12756146	0.30704	0.101773426	0.24043	0.12756146	0.30704	-4.503	0.30928	T	.	.	0.268	0.50222	B	.	.	1.714429	0.21829	15.37	0.96784418985018106	0.31087	0.18089	0.20115	N	AEFCI	0.083054	0.16824	N	.	.	.	.	.	.	1.99474722603683E-5	0.02871	0.533608	0.22052	0	0.61073	0.52368	0	0.685742	0.62368	0	0.638833	0.57524	0	.	.	0.798	-1.6	0.07977	0.113000	0.15333	-10.775000	0.00667	0.151000	0.17695	0.995000	0.38783	0.000000	0.08366	0.096000	0.18090	0.0:0.5394:0.251:0.2096	3.743	0.08062	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	0.02381	582.98	29	chr15	28702471	.	C	G	582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.890e-01;DP=834;ExcessHet=0.0000;FS=11.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.07;MQRankSum=0.223;QD=18.22;ReadPosRankSum=0.218;SOR=0.036	GT:AD:DP:GQ:PL	0/1:11,21:32:99:597,0,344	20	0	1	0
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K,	.	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	150.57	2	chr15	28843134	.	C	T	150.57	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.190e-01;DP=198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0832;MLEAC=2;MLEAF=0.050;MQ=53.75;MQRankSum=0.180;QD=8.37;ReadPosRankSum=0.431;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:28843134_C_T:66,0,246:28843134	18	0	2	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H,	.	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	150.53	2	chr15	28843135	.	C	A	150.53	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-6.190e-01;DP=197;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0817;MLEAC=2;MLEAF=0.050;MQ=53.75;MQRankSum=0.180;QD=8.36;ReadPosRankSum=0.431;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:28843134_C_T:66,0,246:28843134	18	0	2	1
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L,	.	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	144.72	1	chr15	28843142	.	C	A	144.72	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-8.120e-01;DP=202;ExcessHet=0.1072;FS=2.098;InbreedingCoeff=-0.0852;MLEAC=2;MLEAF=0.050;MQ=52.94;MQRankSum=0.431;QD=7.24;ReadPosRankSum=0.282;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:28843134_C_T:63,0,288:28843134	18	0	2	1
chr15	28843145	28843145	A	G	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.T959C:p.M320T,	.	.	552	948	20	2	0	24	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394968721	9.032e-05	0.0009	8.61e-05	9.487e-05	0.0005	7.569e-05	6.959e-05	0.0003	0.0003	0.0002	0.0004	0.0003	0.0004	3.904e-05	0.0003	5.774e-05	6.833e-05	0.0005	0.0006	0.0071	0.0004	0.0007	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0009	0.0003	0.0006	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06346178	0.08270	T	.	.	.	.	.	.	.	.	.	0.027028037523204537	0.02652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80032	0.44603	T	0.06259258	0.13090	0.20706734	0.44950	0.06259258	0.13089	0.20706734	0.44949	-8.92	0.67181	D	.	.	0.373	0.57993	A	.	.	1.332190	0.17377	13.13	0.13608050232526028	0.00274	0.00806	0.03275	N	AEFCI	.	.	.	.	.	.	.	.	.	2.99479300498238E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.140000	0.00647	-2.879000	0.03269	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3434:0.327:0.0:0.3296	1.454	0.02237	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	141.86	1	chr15	28843145	.	A	G	141.86	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-8.120e-01;DP=212;ExcessHet=0.1072;FS=2.141;InbreedingCoeff=-0.0894;MLEAC=2;MLEAF=0.050;MQ=53.30;MQRankSum=0.431;QD=6.76;ReadPosRankSum=-3.500e-02;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:28843134_C_T:63,0,288:28843134	18	0	2	1
chr15	28843152	28843152	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G952A:p.E318K,	.	.	596	905	19	2	0	23	0.0125477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175861085	8.072e-05	0.0008	7.323e-05	8.88e-05	0.0005	6.676e-05	6.15e-05	0.0003	0.0002	0.0005	0.0004	0.0002	0.0005	3.946e-05	0	4.87e-05	2.315e-05	0.0004	0.0005	0.0063	0.0004	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0	0.0008	0	0.0004	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084602505	0.14197	T	.	.	.	.	.	.	.	.	.	0.03870546161705601	0.03816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807219	0.45710	T	0.022809826	0.00971	0.063979626	0.12754	0.022809826	0.00970	0.063979626	0.12754	-7.409	0.56968	T	.	.	0.076	0.05756	B	.	.	0.240593	0.06208	2.659	0.69185045974801285	0.08892	0.00371	0.01888	N	AEFCI	.	.	.	.	.	.	.	.	.	1.10080633485978E-4	0.05123	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.998000	0.03812	-7.625000	0.01118	-2.765000	0.00194	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.7373:0.0	7.994	0.29417	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	138.57	3	chr15	28843152	.	C	T	138.57	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-6.420e-01;DP=218;ExcessHet=0.1072;FS=2.154;InbreedingCoeff=-0.0831;MLEAC=2;MLEAF=0.050;MQ=52.95;MQRankSum=0.431;QD=6.30;ReadPosRankSum=-2.820e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:28843134_C_T:63,0,288:28843134	18	0	2	1
chr15	28843155	28843155	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G949A:p.E317K,	.	.	579	922	19	2	0	23	0.0123192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394768048	6.115e-05	0.0006	5.529e-05	6.746e-05	0.0004	4.9e-05	4.459e-05	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	3.914e-05	0	3.656e-05	2.32e-05	0.0004	0.0004	0.0056	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0007	0	0.0004	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0684565	0.09684	T	.	.	.	.	.	.	.	.	.	0.08560220995357702	0.08494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810419	0.46176	T	0.02553128	0.01501	0.06522381	0.13188	0.02553128	0.01501	0.06522381	0.13188	-6.82	0.52708	T	.	.	0.104	0.18910	B	.	.	1.353607	0.17613	13.27	0.35185701157618721	0.02194	0.00170	0.01006	N	AEFCI	.	.	.	.	.	.	.	.	.	2.25599673312757E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.903000	0.00381	-5.980000	0.01533	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6504:0.3496:1.0E-4	5.503	0.16129	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	138.03	4	chr15	28843155	.	C	T	138.03	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-5.420e-01;DP=222;ExcessHet=0.1072;FS=2.154;InbreedingCoeff=-0.0705;MLEAC=2;MLEAF=0.050;MQ=52.95;MQRankSum=0.431;QD=6.27;ReadPosRankSum=-5.080e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:28843134_C_T:63,0,288:28843134	18	0	2	1
chr15	28843163	28843163	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G941T:p.R314L,	.	.	591	916	13	2	0	17	0.00919416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327731859	3.966e-05	0.0004	3.146e-05	4.845e-05	0.0002	2.969e-05	2.606e-05	0.0001	7.171e-05	0	0.0002	0	0.0002	3.955e-05	0	2.931e-05	0	0.0002	0.0004	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10313755	0.18943	T	.	.	.	.	.	.	.	.	.	0.02523710072021684	0.02474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585041	0.21304	T	0.082116276	0.18901	0.11121759	0.26827	0.082116276	0.18901	0.11121759	0.26826	-7.835	0.59940	D	.	.	0.121	0.25265	B	.	.	0.795957	0.11666	8.248	0.52257582194253571	0.04714	0.01916	0.05858	N	AEFCI	.	.	.	.	.	.	.	.	.	1.98083583576756E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-0.605000	0.05757	-6.332000	0.01428	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	137.98	5	chr15	28843163	.	C	A	137.98	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-9.000e-02;DP=233;ExcessHet=0.1072;FS=2.154;InbreedingCoeff=-0.0691;MLEAC=2;MLEAF=0.050;MQ=52.95;MQRankSum=0.431;QD=6.27;ReadPosRankSum=-1.085e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:28843134_C_T:63,0,288:28843134	18	0	2	1
chr15	30089817	30089817	G	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.G992A:p.R331H,	.	.	466	1049	7	0	0	7	0.00332542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	.	.	.	.	.	.	1.000	N	.	.	1.96	T	-0.999	T	0.035	T	0.155	-1.218	0.064	-0.881	-0.324	2.673	3.086	0.065	0.000900771032752	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488768645	0.0001	0.0006	9.951e-05	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0.0002	0.0002	7.818e-05	2.532e-05	0.0004	0.0002	6.575e-05	0.0002	0.0010	0.0005	0.0029	0.0004	0.0005	0.0009	0.0004	0.0004	0.0005	0.0004	0.0008	0	0.0003	0	0.0002	0.0005	0	0.0004	0.0012	0.0009	0.196	0.20683	T	0.607	0.07766	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	1.96	0.22270	T	-0.41	0.14000	N	0.036	0.01068	-0.9994	0.30087	T	0.035	0.15117	T	6	0.079330474	0.12748	T	9.01E-4	0.00844	T	.	.	.	.	0.0611884634855	0.05136	0.08154418905999827	0.08089	1.58871443814	0.88490	.	.	.	0.001544	0.00986	T	-0.310092	0.07740	T	-0.613364	0.11713	T	0.0723647512045235	0.08979	T	.	.	.	0.018165141	0.00338	0.026209326	0.00698	0.018165141	0.00337	0.026209326	0.00698	-5.732	0.43977	T	.	.	0.065	0.01960	B	.	.	1.046405	0.14271	10.85	0.52266347466046803	0.04716	0.06355	0.12354	N	AEFI	0.059543	0.11253	N	-0.810811843792159	0.13033	0.6392938	-0.978440891905038	0.10270	0.5161716	1.86297986819133E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.881	0.10070	3.050000	0.49568	-0.274000	0.10324	-0.727000	0.03751	1.000000	0.71638	0.000000	0.08366	0.000000	0.00833	0.3332:0.2282:0.4386:0.0	3.086	0.05900	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1	174.61	39	chr15	30089817	.	G	A	174.61	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.10;DP=737;ExcessHet=0.0082;FS=15.051;InbreedingCoeff=0.3664;MLEAC=4;MLEAF=0.100;MQ=36.04;MQRankSum=-9.540e-01;QD=3.01;ReadPosRankSum=-5.390e-01;SOR=2.820	GT:AD:DP:GQ:PL	0/1:13,3:16:36:36,0,332	17	1	2	1
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/1:0,63,0:63:99:2509,190,0,2509,190,2509	0	10	0	0
chr15	34038924	34038924	-	CCGCCGCCGCCT	exonic	AVEN	.	nonframeshift insertion	AVEN:NM_020371:exon1:c.122_123insAGGCGGCGGCGG:p.G45_D46insGGGG,	.	.	593	759	112	48	10	218	0.12051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	756.33	5	chr15	34038912	.	CCCGCCGCCGCCT	C,CCCGCCGCCGCCTCCGCCGCCGCCT	756.33	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=0.319;DP=163;ExcessHet=0.0454;FS=2.917;InbreedingCoeff=0.2461;MLEAC=4,1;MLEAF=0.100,0.025;MQ=60.00;MQRankSum=0.00;QD=21.61;ReadPosRankSum=-4.240e-01;SOR=1.230	GT:AD:DP:GQ:PL	0/1:9,5,0:14:99:175,0,363,202,378,580	16	1	2	1
chr15	39589895	39589895	A	G	exonic	THBS1	.	nonsynonymous SNV	THBS1:NM_003246:exon13:c.A2017G:p.M673V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.741	P	0.169	B	0.001	D	1.000	D	1.69	L	-1.05	T	-0.614	T	0.307	T	0.758	3.104	16.37	4.85	1.054	9.339	12.565	0.497	0.0424276700751	.	.	.	.	.	.	.	.	.	.	.	.	.	rs750748906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.354	0.17268	T	0.243	0.30970	B	0.028	0.21332	B	0.000531	0.43581	D	0.000000	0.999503	0.47320	D	0.805	0.20218	L	-1.05	0.76690	T	-1.43	0.35194	N	0.839	0.83473	-0.6144	0.64221	T	0.307	0.67740	T	10	0.80009705	0.79424	D	0.042428	0.60457	D	0.497	0.78163	0.472	0.54699	0.920872408616	0.92006	0.6206323201827207	0.61996	0.661307580254	0.58917	0.648995876312	0.59843	T	0.310992	0.68291	T	0.183389	0.72354	D	0.025649	0.71996	D	0.671061396598816	0.39385	D	0.846715	0.52677	T	0.20743038	0.42948	0.2049179	0.44637	0.20743038	0.42948	0.2049179	0.44636	-10.337	0.75904	D	.	.	0.075	0.05535	B	.	.	3.824070	0.55237	23.6	0.97369555922543283	0.33617	0.88512	0.48474	D	AEFDBHCIJ	0.970214	0.99251	D	0.211665377615936	0.51765	3.355152	0.339021662289223	0.57848	3.952352	0.999999999990017	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.657601	0.63696	0	.	.	5.99	4.85	0.62375	9.325000	0.96006	11.246000	0.90584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8752:0.0:0.0:0.1248	12.565	0.55654	878	0.29785	EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1284.98	33	chr15	39589895	.	A	G	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.120e-01;DP=874;ExcessHet=0.0000;FS=4.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=0.731;SOR=1.101	GT:AD:DP:GQ:PL	0/1:103,63:166:99:1299,0,2592	20	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T,	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.975	D	0.616	P	0.000	D	1.000	D	2.05	M	0.39	T	-0.578	T	0.227	T	0.77	3.235	16.85	4.83	2.163	8.292	14.856	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	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	0.07143	189.73	40	chr15	43021291	.	A	G	189.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.387e+00;DP=1753;ExcessHet=0.3300;FS=121.510;InbreedingCoeff=-0.0782;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=-7.310e-01;SOR=11.241	GT:AD:DP:GQ:PL	0/1:104,34:138:36:36,0,1966	18	0	3	0
chr15	45111501	45111501	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon6:c.G598A:p.G200R	Thyroid dyshormonogenesis 6, Autosomal recessive	YES	2	1502	16	2	0	20	0.00661376	.	.	873649	not_provided|Thyroid_dyshormonogenesis_6|Congenital_hypothyroidism|not_specified	MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|Human_Phenotype_Ontology:HP:0000851,MONDO:MONDO:0018612,MedGen:C0010308,Orphanet:442|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.049	B	0.16	B	0.000	D	1.000	D	1.69	L	.	.	-0.879	T	0.208	T	0.245	1.288	10.21	3.2	0.572	1.092	9.93	0.112	0.0870797157534	.	0.00339457	0.0012	0.0036	0	0.0024	0	0.0008	0	0.0013	0.0008837	23	26028	rs2467827	0.0013	0.0013	0.0013	0.0013	0.0059	0.0013	0.0012	0.0041	0.0035	0.0017	0.0008	0.0001	0	0.0001	0.0059	0.0014	0.0015	0.0019	0.0014	0.0015	0.0016	0.0013	0.0018	0.0013	0.0012	0.0014	0.0013	0.0018	0	0.0014	0	0.0002	0	0	0.0016	0.0038	0.0010	0.156	0.24090	T	0.242	0.24264	T	0.049	0.22227	B	0.16	0.34752	B	0.000016	0.62929	D	0.113958	0.999903	0.50806	D	2.275	0.64647	M	-0.87	0.74583	T	-2.32	0.51478	N	0.332	0.37301	-0.8787	0.49864	T	0.208	0.56744	T	9	0.014877588	0.00312	T	0.08708	0.74864	D	0.112	0.31546	0.649	0.78648	0.612346595452	0.60922	0.4636919790857647	0.46288	0.594377940078	0.54754	0.759534358978	0.75861	T	0.022629	0.48754	T	-0.413907	0.01873	T	-0.373492	0.36481	T	0.019811536912779	0.00683	T	0.735926	0.35246	T	0.18022087	0.39132	0.21244237	0.45714	0.2938596	0.52348	0.22583425	0.47540	-5.963	0.45969	T	0.2094615556041622	0.28042	0.091	0.13315	B	.;.	.;.	1.264082	0.16619	12.66	0.95385010851970486	0.26816	0.56262	0.30072	D	AEFDBHCI	0.197320	0.32425	N	-0.862035055079771	0.11755	0.5690544	-0.827023356808017	0.13841	0.720188	0.999930517080511	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	5.06	3.2	0.35826	1.131000	0.31019	0.661000	0.20504	-0.996000	0.01829	0.000000	0.06391	0.014000	0.20376	0.029000	0.12982	0.0:0.7691:0.0:0.2309	9.93	0.40686	600	0.68026	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1964.11	36	chr15	45111501	.	C	T	1964.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.66;DP=786;ExcessHet=0.1072;FS=8.872;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.60;MQRankSum=-4.732e+00;QD=17.69;ReadPosRankSum=2.22;SOR=0.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,22:40:99:0|1:45111501_C_T:870,0,690:45111501	19	0	2	0
chr15	45117808	45117808	G	C	exonic	DUOXA1;DUOXA2	.	nonsynonymous SNV	DUOXA2:NM_207581:exon6:c.G862C:p.D288H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.977	D	0.855	P	0.219	N	1.000	N	2.19	M	0.46	T	-0.840	T	0.193	T	.	3.029	16.11	3.39	0.727	0.493	8.505	0.108	0.0281448103578	.	.	1.656e-05	9.722e-05	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs771345227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.313e-05	0	2.689e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.053	0.38863	T	0.128	0.34959	T	0.977	0.58535	D	0.855	0.60933	P	0.218903	0.16186	N	0.664394	1	0.19238	N	2.8	0.81625	M	0.46	0.56281	T	-2.36	0.52128	N	0.132	0.12770	-0.8397	0.52666	T	0.193	0.54579	T	10	0.15257517	0.28817	T	0.028145	0.50866	D	0.222	0.51872	0.446	0.50466	0.360565625551	0.35673	0.7954180628544716	0.79494	0.236504836718	0.26189	.	.	.	0.054879	0.29848	T	-0.146767	0.28819	T	-0.267069	0.48116	T	0.285967737436295	0.24422	T	0.493751	0.15260	T	0.09419208	0.22140	0.16705552	0.38561	0.09419208	0.22139	0.16705552	0.38561	-4.275	0.27825	T	0.1905761142480372	0.24974	0.116	0.23290	B	.	.	2.540372	0.32863	19.17	0.98286621891492543	0.39907	0.29445	0.23823	N	AEFDBCI	0.130924	0.24966	N	-0.579254614565423	0.19575	1.025612	-0.639955475902492	0.18471	0.9868475	0.998642809920106	0.37371	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.26	3.39	0.37919	0.559000	0.23190	3.568000	0.39113	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.140000	0.19946	0.1806:0.0:0.8194:0.0	8.505	0.32344	600	0.68026	.	.	.	.	.	.	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	0.02381	663.98	38	chr15	45117808	.	G	C	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.77;ReadPosRankSum=0.784;SOR=0.709	GT:AD:DP:GQ:PL	0/1:80,35:115:99:678,0,2051	20	0	1	0
chr15	55230468	55230468	G	A	exonic	RAB27A	.	nonsynonymous SNV	RAB27A:NM_004580:exon3:c.C172T:p.P58S	Griscelli syndrome, type 2, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	957460	not_provided|Autoinflammatory_syndrome|Griscelli_syndrome_type_2|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011872,MedGen:C1868679,OMIM:607624,Orphanet:381,Orphanet:79477|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.001	B	0.000	D	1.000	D	0	N	-0.7	T	-0.877	T	0.191	T	0.313	2.099	12.98	5.75	2.716	5.115	18.931	0.107	0.0208210246837	7.7e-05	0.000199681	5.785e-05	0.0002	0	0	0	7.515e-05	0	0	5.82e-05	9	154602	rs201284258	0.0001	0.0001	0.0002	0.0001	0.0005	0.0001	0.0001	0.0002	0.0001	5.978e-05	2.237e-05	0.0002	0	0	0.0005	0.0002	0.0001	0	9.852e-05	9.843e-05	0.0001	8.06e-05	0.0002	6.004e-05	4.878e-05	0.0001	7.895e-05	4.812e-05	0	0	0.0003	0	0	0	0.0002	0	0	0.38	0.15458	T	0.893	0.03108	T	0.0	0.02946	B	0.001	0.04355	B	0.000016	0.62929	D	0.153445	0.999981	0.54805	D	0.425	0.12573	N	-0.7	0.72785	T	-0.55	0.16799	N	0.286	0.32370	-0.8770	0.49997	T	0.191	0.54286	T	10	0.09348574	0.16546	T	0.020821	0.43488	T	0.107	0.30369	.	.	0.519079548728	0.51552	0.713739840316042	0.71316	0.0177708812323	0.01741	0.535422086716	0.43799	T	0.313053	0.68483	T	-0.18382	0.23168	T	-0.310139	0.43644	T	0.135412403828747	0.15873	T	0.832417	0.50060	T	0.059170738	0.11995	0.11802371	0.28492	0.059170738	0.11995	0.11802371	0.28491	-4.751	0.34015	T	.	.	0.082	0.09094	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.363090	0.46435	22.3	0.98077321645487858	0.38078	0.94930	0.62826	D	AEFDGBI	0.628069	0.61029	D	-0.035760706872286	0.40241	2.386418	0.211128676636646	0.50465	3.238192	0.999999999614521	0.74766	0.730579	0.87903	0	0.662677	0.63036	0	0.653264	0.51672	0	0.648885	0.59868	0	.	.	5.75	5.75	0.90390	5.226000	0.65129	11.725000	0.94886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.931	0.92542	900	0.24599	Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1188.98	33	chr15	55230468	.	G	A	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.379;DP=801;ExcessHet=0.0000;FS=1.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=1.74;SOR=0.972	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1203,0,1057	20	0	1	0
chr15	55869581	55869581	C	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284340:exon3:c.G1711C:p.E571Q	.	.	445	1052	22	3	0	28	0.0131332	0.9842	0.78	739699	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.975	D	.	.	1.000	N	1.935	M	1.92	T	-0.832	T	0.227	T	0.518	4.253	22.2	5.36	2.682	7.141	18.432	0.341	.	0.0008	0.00179712	0.0098	0	0.0012	0.0008	0.0136	0.0044	0.0191	0.0236	0.0029236	452	154602	rs200302839	0.0023	0.0024	0.0017	0.0029	0.0189	0.0022	0.0022	0.0181	0.0178	0	0.0003	0.0008	2.638e-05	0.0086	0.0074	0.0010	0.0025	0.0189	0.0021	0.0021	0.0014	0.0027	0.0170	0.0019	0.0018	0.0140	0.0129	4.812e-05	0	0.0003	0.0012	0	0.0091	0	0.0018	0.0009	0.0170	0.137	0.25979	T	0.663	0.28860	T	0.609	0.90584	P	0.254	0.73362	B	.	.	.	.	0.867592	0.81001	D	2.25	0.63811	M	-2.91	0.91696	D	-2.14	0.48523	N	0.531	0.55972	-0.8322	0.53159	T	0.227	0.59221	T	9	0.008531868	0.00193	T	.	.	.	0.341	0.66297	.	.	0.931635973363	0.93093	0.3377238512636838	0.33685	.	.	.	.	.	0.251468	0.62172	T	-0.181927	0.23450	T	-0.0191658	0.69083	D	0.0473805698945018	0.05033	T	0.919908	0.78720	D	0.1940468	0.41138	0.17848879	0.40521	0.1940468	0.41138	0.17848879	0.40520	-10.473	0.76692	D	.	.	0.403	0.59727	A	.;.;.	.;.;.	4.758105	0.76898	26.6	0.99652454092928966	0.77380	0.98588	0.84418	D	AEFBI	0.897493	0.83972	D	0.464009259402484	0.65002	4.768017	0.538009565599981	0.70567	5.524293	0.999999999999816	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.266000	0.77851	7.633000	0.62825	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.432	0.90575	793	0.45818	.;.;.	.	.	.	.	.	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	0.02381	449.98	35	chr15	55869581	.	C	G	449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.33;ReadPosRankSum=-8.080e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:33,21:54:99:464,0,730	20	0	1	0
chr15	56412369	56412369	T	G	exonic	TEX9	.	nonsynonymous SNV	TEX9:NM_001385050:exon6:c.T287G:p.L96W	.	.	436	1061	24	1	0	26	0.0121043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.001	D	1.000	D	2.595	M	-1.8	D	0.587	D	0.723	D	0.978	4.373	23.1	5.77	2.203	6.297	13.469	0.731	.	0.0006	0.00379393	0.0027	0	0.0007	0.0001	0	0.0013	0.0033	0.0143	0.0023997	371	154602	rs138888960	0.0014	0.0015	0.0010	0.0019	0.0142	0.0014	0.0014	0.0136	0.0133	5.977e-05	0.0005	0.0141	2.521e-05	1.872e-05	0.0074	0.0003	0.0024	0.0142	0.0011	0.0011	0.0009	0.0012	0.0135	0.0009	0.0009	0.0108	0.0099	4.812e-05	0	0.0012	0.0121	0	0	0	0.0004	0.0019	0.0135	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000984	0.40743	D	0.211030	0.999919	0.51042	D	2.98	0.85499	M	-1.8	0.83893	D	-5.31	0.84457	D	0.943	0.95491	0.587	0.91730	D	0.723	0.90510	D	10	0.012893707	0.00275	T	.	.	.	0.731	0.90589	.	.	0.988395186899	0.98827	0.5853811297663031	0.58467	0.0796653918758	0.08968	0.696838080883	0.66687	T	0.539138	0.84188	D	0.0924472	0.63464	D	0.371694	0.91135	D	0.105391751677975	0.12939	T	0.89611	0.72041	D	0.54575557	0.69719	0.7560238	0.85582	0.54575557	0.69720	0.7560238	0.85582	-13.525	0.91409	D	.	.	0.526	0.70994	A	.;.;.	.;.;.	5.148710	0.86229	28.8	0.96552747361804592	0.30229	0.94712	0.62071	D	AEFI	0.700217	0.65731	D	0.806357584445064	0.86503	8.906175	0.776385537658714	0.88109	9.460082	0.999499761303772	0.40007	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	6.723000	0.74552	7.682000	0.65344	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.469	0.60723	394	0.83065	.;.;.	.	.	.	.	.	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	0.02381	373.98	35	chr15	56412369	.	T	G	373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=698;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-2.003e+00;SOR=0.836	GT:AD:DP:GQ:PL	0/1:18,13:31:99:388,0,420	20	0	1	0
chr15	63129568	63129568	T	C	exonic	LACTB	.	nonsynonymous SNV	LACTB:NM_032857:exon5:c.T1036C:p.Y346H	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.335	B	0.178	B	0.000	D	1.000	D	1.69	L	0.81	T	-0.926	T	0.145	T	0.908	2.441	14.12	5.8	2.206	4.414	15.332	0.262	0.0056478220909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs930221220	2.053e-06	2.052e-06	1.362e-06	2.751e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.874e-05	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.24758	T	0.252	0.25591	T	0.335	0.33330	B	0.178	0.35748	B	0.000401	0.44736	D	0.197851	0.98182	0.39820	D	2.035	0.55589	M	0.81	0.48460	T	-1.93	0.44852	N	0.453	0.49055	-0.9258	0.44744	T	0.145	0.46768	T	10	0.33928254	0.51018	T	0.005648	0.14621	T	0.262	0.57482	0.791	0.91291	0.575848135552	0.57253	0.8217371812945394	0.82130	0.5337776408	0.50804	0.743882775307	0.73544	T	0.136049	0.46820	T	0.217612	0.75549	D	0.0748074	0.75232	D	0.414592891931534	0.29489	T	0.739226	0.45944	T	0.1716696	0.37814	0.20823032	0.45116	0.1716696	0.37814	0.20823032	0.45115	-8.498	0.64416	D	.	.	0.214	0.54302	B	.;.	.;.	3.369632	0.46563	22.3	0.99156110466419467	0.53959	0.89852	0.50590	D	AEFGBI	0.413095	0.48291	N	0.210658396650508	0.51714	3.350597	0.346637196194924	0.58304	4.000317	0.999999965114975	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.282000	0.58764	7.842000	0.70572	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.332	0.73929	759	0.50631	Beta-lactamase-related;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	938.98	35	chr15	63129568	.	T	C	938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.780e-01;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-8.900e-02;SOR=0.693	GT:AD:DP:GQ:PL	0/1:45,45:90:99:953,0,991	20	0	1	0
chr15	63597516	63597516	G	A	exonic	FBXL22	.	nonsynonymous SNV	FBXL22:NM_001367807:exon1:c.G124A:p.V42M	.	.	435	1084	3	0	0	3	0.00138185	.	.	3442491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.04	L	-0.02	T	-0.328	T	0.348	T	0.866	3.983	20.4	5.39	2.526	9.731	19.189	0.526	0.0772033709326	7.7e-05	.	3.301e-05	0	0	0	0	6.007e-05	0	0	2.59e-05	4	154602	rs367605652	2.052e-05	2.052e-05	1.634e-05	2.475e-05	0.0005	1.456e-05	1.264e-05	0.0001	7.541e-05	2.987e-05	0.0001	0	5.038e-05	0	0.0005	1.619e-05	1.656e-05	0	1.315e-05	1.313e-05	2.57e-05	0	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	-0.02	0.62918	T	.	.	.	0.613	0.82559	-0.3281	0.74188	T	0.348	0.71249	T	10	0.56838185	0.65180	D	0.077203	0.72714	D	0.526	0.79947	.	.	0.602107291794	0.59893	0.5983892764624129	0.59769	0.745215368808	0.63480	0.589835584164	0.51470	T	0.164209	0.50958	T	0.108105	0.65154	D	0.14321	0.79751	D	0.624632000923157	0.37396	D	0.854215	0.54045	D	0.33035746	0.55501	0.3368268	0.59480	0.33035746	0.55501	0.3368268	0.59480	-9.151	0.68664	D	.	.	0.867	0.80705	P	.;.;.	.;.;.	4.792489	0.77791	26.8	0.99887189055905468	0.96204	0.96880	0.71442	D	AEFDBCIJ	0.937467	0.93530	D	0.650923674793274	0.76429	6.484809	0.636744391311684	0.77627	6.715922	1.0	0.98316	0.517182	0.21443	0	0.379588	0.06130	0	0.478664	0.07449	1	0.664235	0.64389	0	.	.	5.39	5.39	0.77615	9.864000	0.98442	7.388000	0.58495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	19.189	0.93643	627	0.65350	F-box domain;F-box domain;F-box 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	0.07143	3462.68	34	chr15	63597516	.	G	A	3462.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.47;DP=921;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.262;SOR=0.712	GT:AD:DP:GQ:PL	0/1:42,61:103:99:1507,0,940	18	0	3	0
chr15	63713551	63713551	T	G	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon23:c.A4265C:p.Q1422P,	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.002	B	0.003	B	0.002	N	0.986	D	0.345	N	1.86	T	-1.054	T	0.034	T	0.938	2.626	14.74	5.53	2.100	4.462	7.618	0.252	0.0025531596803	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163579459	7.526e-06	7.524e-06	1.361e-06	1.375e-05	0.0002	4.04e-06	2.95e-06	3.348e-05	1.981e-05	0	0	0	0.0001	0	0.0002	2.698e-06	3.313e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.13349	T	0.28	0.21678	T	0.0	0.02946	B	0.0	0.01387	B	0.001818	0.37945	N	0.192146	0.986181	0.40393	D	0.345	0.11182	N	1.86	0.24285	T	-0.45	0.25118	N	0.619	0.63459	-1.0536	0.13413	T	0.034	0.14552	T	10	0.15588063	0.29369	T	0.002553	0.05121	T	0.252	0.56159	0.095	0.01241	0.51375633675	0.51017	0.2530542570770654	0.25219	0.402610028339	0.41208	0.644677519798	0.59229	T	0.111164	0.42644	T	0.0601478	0.59632	T	0.0177499	0.71485	D	0.234804585576057	0.22178	T	0.80202	0.45053	T	0.077616856	0.17627	0.09700812	0.23072	0.077616856	0.17627	0.09700812	0.23071	-3.129	0.11632	T	.	.	0.075	0.11606	B	.;.	.;.	3.186622	0.43278	21.7	0.96924339898994194	0.31629	0.93995	0.59797	D	AEFGBCI	0.626380	0.60922	D	-0.140407651671513	0.35643	2.049982	0.0884623631046431	0.43966	2.687622	0.99999050462195	0.74766	0.732398	0.92422	0	0.696144	0.67643	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	4.604000	0.60818	7.946000	0.75701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1393:0.0:0.1453:0.7154	7.618	0.27334	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1020.98	34	chr15	63713551	.	T	G	1020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.610e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.96;ReadPosRankSum=1.05;SOR=0.761	GT:AD:DP:GQ:PL	0/1:71,43:114:99:1035,0,1947	20	0	1	0
chr15	64930831	64930831	A	G	exonic	ANKDD1A	.	nonsynonymous SNV	ANKDD1A:NM_182703:exon7:c.A580G:p.T194A,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.996	D	0.000	D	1.000	D	2.895	M	1.73	T	0.169	D	0.539	D	0.869	2.828	15.42	4.12	1.748	6.070	9.449	0.426	0.17223334054	.	0.00119808	0.0005	0	0	0.0060	0.0006	1.614e-05	0.0013	0.0001	0.0004075	63	154602	rs183862467	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0026	0.0025	2.987e-05	0	0	0.0031	0.0002	0	3.687e-05	0.0005	0.0002	0.0003	0.0003	0.0002	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	2.406e-05	0	6.532e-05	0	0.0068	0.0004	0	2.94e-05	0.0005	0.0002	0.771	0.65419	T	0.141	0.70582	T	0.996	0.68779	D	0.91	0.64641	D	0.000013	0.62929	D	0.000000	0.998913	0.81001	D	2.57	0.75187	M	-0.87	0.78860	T	-0.71	0.79571	N	0.887	0.89577	0.169	0.85389	D	0.539	0.82984	D	10	0.011678755	0.00254	T	0.172233	0.84928	D	0.426	0.73372	.	.	0.711441519182	0.70891	0.5596845997943214	0.55895	.	.	0.561142921448	0.47429	T	0.130972	0.46018	T	0.0104674	0.53088	T	0.24404	0.85338	D	0.086265921508259	0.10768	T	0.743826	0.59013	T	0.20702761	0.42897	0.20947589	0.45293	0.20702761	0.42897	0.20947589	0.45292	-4.824	0.34870	T	.	.	0.295	0.66944	B	.;.;.;.;.;.	.;.;.;.;.;.	4.060466	0.60248	24.2	0.99604867734668034	0.74456	0.80203	0.39903	D	AEFDGBHCI	0.519458	0.54473	D	0.585520488923875	0.72271	5.779411	0.467919027504907	0.65877	4.879477	0.999999999994758	0.74766	0.713056	0.82018	0	0.587265	0.34161	0	0.608524	0.38960	0	0.695668	0.68540	0	.	.	4.12	4.12	0.47504	5.890000	0.69515	3.776000	0.39772	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.261000	0.23543	1.0:0.0:0.0:0.0	9.449	0.37881	225	0.91282	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	720.98	36	chr15	64930831	.	A	G	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.019;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=1.43;SOR=0.784	GT:AD:DP:GQ:PL	0/1:40,31:71:99:735,0,1032	20	0	1	0
chr15	65077762	65077762	A	C	exonic	KBTBD13	.	nonsynonymous SNV	KBTBD13:NM_001101362:exon1:c.A947C:p.D316A,	Nemaline myopathy 6, autosomal dominant, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	643471	Nemaline_myopathy_6|Inborn_genetic_diseases	MONDO:MONDO:0012237,MedGen:C1836472,OMIM:609273,Orphanet:171439|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.82	T	0.009	B	0.007	B	.	.	0.999	D	1.445	L	-0.13	T	-0.898	T	0.172	T	0.486	2.176	13.23	5.15	1.937	2.308	14.657	0.240	0.0832456286377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021462149	2.245e-05	2.257e-05	1.671e-05	2.827e-05	0.0007	1.624e-05	1.39e-05	0.0002	0.0001	0.0002	0.0001	0	0	0	0.0007	1.091e-05	5.065e-05	1.201e-05	5.264e-05	5.256e-05	5.145e-05	5.388e-05	0.0002	2.56e-05	1.832e-05	5.287e-05	2.835e-05	2.416e-05	0	0.0002	0	0	0	0	5.886e-05	0	0	0.13	0.26740	T	0.116	0.36497	T	0.009	0.15093	B	0.007	0.12992	B	.	.	.	.	0.998746	0.45372	D	1.79	0.46772	L	-0.13	0.64818	T	-3.09	0.63438	D	0.342	0.38335	-0.8979	0.48205	T	0.172	0.51452	T	9	0.20484588	0.36691	T	0.083246	0.74075	D	0.240	0.54500	0.552	0.66856	0.486920840936	0.48326	0.7054532993511943	0.70487	0.688145502748	0.60419	0.79730707407	0.81553	T	0.106374	0.41767	T	-0.195131	0.21509	T	-0.26976	0.47845	T	0.0451927643841116	0.04637	T	0.435056	0.11905	T	0.20360999	0.42443	0.30230767	0.56263	0.20360999	0.42443	0.30230767	0.56262	-3.008	0.10267	T	0.4514104127042629	0.53514	0.243	0.47773	B	.	.	3.304751	0.45380	22.1	0.96789735759385143	0.31105	0.88086	0.47862	D	AEFDBCI	0.506756	0.53734	D	-0.3367308330111	0.27763	1.525826	-0.179421584374864	0.32294	1.83587	0.999999890058061	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.15	5.15	0.70287	2.348000	0.43701	7.676000	0.65050	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	1.0:0.0:0.0:0.0	14.657	0.68447	315	0.87208	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2119.11	82	chr15	65077762	.	A	C	2119.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.17;DP=2038;ExcessHet=0.1072;FS=40.643;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.63;SOR=2.825	GT:AD:DP:GQ:PL	0/1:63,37:100:99:1033,0,1608	19	0	2	0
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.961	D	0.036	N	1.000	N	1.495	L	1.95	T	-0.665	T	0.376	T	0.064	2.879	15.59	2.88	0.719	0.773	6.818	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	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	0.09524	954.92	37	chr15	65624503	.	G	C	954.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.957e+00;DP=1530;ExcessHet=0.6776;FS=181.776;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.77;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,29:173:56:.:.:56,0,4534	17	0	4	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.029	B	0.033	B	0.056	N	1.000	D	0.49	N	1.3	T	-1.076	T	0.043	T	0.166	2.434	14.10	2.44	0.229	0.607	5.619	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	421.01	75	chr15	66326260	.	C	G	421.01	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.199e+00;DP=1586;ExcessHet=2.5830;FS=250.229;InbreedingCoeff=-0.2058;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=1.02;SOR=10.704	GT:AD:DP:GQ:PL	0/1:59,23:82:86:86,0,1463	14	0	7	0
chr15	72735954	72735954	A	T	exonic	BBS4	.	nonsynonymous SNV	BBS4:NM_001252678:exon13:c.A720T:p.E240D	Bardet-Biedl syndrome 4, Autosomal recessive	YES	0	1493	28	1	0	30	0.00994695	.	.	255356	Bardet-Biedl_syndrome|not_specified|Bardet-Biedl_syndrome_4|not_provided	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982,Orphanet:110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.002	B	0.004	B	0.000	D	0.886	D	0.17	N	-0.17	T	-1.109	T	0.076	T	0.283	0.661	7.544	-1.56	-0.139	-0.680	0.986	0.118	.	0.0010	0.00219649	0.0017	9.612e-05	0.0011	0	0.0002	0.0011	0	0.0071	0.0015977	247	154602	rs147202164	0.0012	0.0012	0.0010	0.0014	0.0080	0.0012	0.0012	0.0068	0.0066	0.0002	0.0011	0.0002	0	0.0003	0.0080	0.0009	0.0014	0.0073	0.0009	0.0009	0.0008	0.0010	0.0081	0.0008	0.0007	0.0061	0.0054	0.0002	0	0.0013	0.0006	0	0.0002	0.0137	0.0008	0.0009	0.0081	0.631	0.05137	T	0.608	0.12316	T	0.0	0.02946	B	0.002	0.06944	B	0.000051	0.53742	D	0.165515	0.851858	0.35848	D	0.94	0.23649	L	-0.17	0.65563	T	-0.26	0.11185	N	0.193	0.21188	-1.1085	0.03201	T	0.076	0.30522	T	10	0.0062256753	0.00140	T	.	.	.	0.118	0.32913	0.536	0.64585	0.467585353272	0.46384	0.12365382285431516	0.12291	0.0123763208072	0.01177	0.421674877405	0.28067	T	0.15607	0.49808	T	-0.453691	0.01074	T	-0.420747	0.30989	T	0.00809032004326582	0.00096	T	0.763624	0.39028	T	0.065803885	0.14100	0.03444925	0.02514	0.067963764	0.14765	0.027452525	0.00899	-4.176	0.32571	T	.	.	0.074	0.05060	B	.;.	.;.	0.535059	0.09040	5.820	0.84337932865170284	0.15233	0.18627	0.20337	N	AEFBI	0.080972	0.16379	N	-0.964398092015882	0.09372	0.4432894	-0.895571225133823	0.12198	0.6260898	0.993373274759456	0.33190	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.68	-1.56	0.08080	-0.645000	0.05506	-0.595000	0.08301	0.756000	0.94297	0.133000	0.23395	0.000000	0.08366	0.917000	0.45243	0.2643:0.2158:0.3251:0.1949	0.986	0.01356	409	0.82198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	839.98	33	chr15	72735954	.	A	T	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=763;ExcessHet=0.0000;FS=1.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-4.690e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/1:39,33:72:99:854,0,985	20	0	1	0
chr15	74272844	74272844	A	G	exonic	CCDC33	.	nonsynonymous SNV	CCDC33:NM_025055:exon7:c.A712G:p.M238V,	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.0	B	0.0	B	0.514	N	1.000	N	-1.7	N	2.43	T	-1.003	T	0.011	T	0.132	-0.773	0.751	-5.06	-1.929	-1.027	6.293	0.008	0.00786093187856	8e-05	.	4.141e-05	0.0003	0	0	0	2.998e-05	0	0	3.23e-05	5	154602	rs368467760	2.463e-05	2.463e-05	2.314e-05	2.613e-05	0.0005	1.803e-05	1.6e-05	0.0001	7.541e-05	0.0001	2.236e-05	0	0	0	0.0005	2.338e-05	1.656e-05	0	9.188e-05	9.185e-05	8.99e-05	9.394e-05	0.0002	5.521e-05	4.36e-05	9.537e-05	6.942e-05	0.0002	0	0	0	0	0	0	8.818e-05	0	0	0.333	0.13003	T	0.27	0.22359	T	0.0	0.02946	B	0.0	0.01387	B	0.514258	0.05165	N	1.313780	1	0.08975	N	.	.	.	2.43	0.15261	T	0.42	0.03352	N	0.1	0.08227	-1.0029	0.29080	T	0.011	0.03949	T	10	0.022761345	0.00577	T	0.007861	0.20851	T	0.008	0.00669	.	.	0.0297737177859	0.01360	0.16506348873789653	0.16426	0.0817274739642	0.09202	0.306943893433	0.11444	T	.	.	.	-0.570756	0.00219	T	-0.778193	0.02508	T	0.0877450630068779	0.10947	T	0.179582	0.01780	T	.	.	.	.	.	.	.	.	-1.114	0.01135	T	.	.	0.042	0.00022	B	.	.	-1.196487	0.00534	0.012	0.3241822109136539	0.01877	0.01155	0.04171	N	AEFDGBHCI	0.016182	0.00349	N	-2.04644514028022	0.00168	0.007190168	-2.01715274116424	0.00282	0.0124336	0.988306477265481	0.31471	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.37	-5.06	0.02725	-1.029000	0.03696	-0.731000	0.07661	-0.723000	0.03784	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.3939:0.356:0.2501:0.0	6.293	0.20279	814	0.42100	.	.	.	.	.	.	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	0.02381	2778.98	34	chr15	74272844	.	A	G	2778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.162e+00;DP=1003;ExcessHet=0.0000;FS=1.415;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=0.794;SOR=0.791	GT:AD:DP:GQ:PL	0/1:152,132:284:99:2793,0,3701	20	0	1	0
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/1:55,12,3:70:64:64,0,1278,192,1196,1543	8	0	5	0
chr15	84031415	84031415	C	G	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon28:c.C4737G:p.N1579K	.	.	423	1057	40	2	0	44	0.0203892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.006	B	0.005	B	0.003	N	1.000	N	0.365	N	0.11	T	-0.952	T	0.101	T	0.041	-0.846	0.558	3.24	1.381	0.082	5.034	0.102	.	0.0003	0.00359425	0.0025	9.619e-05	0.0005	0	0	0.0007	0.0088	0.0151	0.0022639	350	154602	rs148548737	0.0013	0.0013	0.0009	0.0018	0.0174	0.0013	0.0013	0.0167	0.0164	5.974e-05	0.0001	0.0023	2.519e-05	0	0.0139	0.0002	0.0017	0.0174	0.0008	0.0008	0.0006	0.0011	0.0180	0.0007	0.0007	0.0150	0.0138	4.811e-05	0	0.0002	0.0020	0	0	0.0068	0.0003	0.0014	0.0180	0.92	0.02309	T	0.926	0.02814	T	0.006	0.13644	B	0.004	0.11217	B	0.002575	0.00898	N	3.231580	1	0.08975	N	1.145	0.29067	L	0.11	0.61923	T	0.0	0.10136	N	0.075	0.04913	-0.9520	0.40625	T	0.101	0.37392	T	10	0.006237477	0.00141	T	.	.	.	0.102	0.29158	0.408	0.44230	0.531679877283	0.52817	0.10540083997250971	0.10470	0.142973379505	0.16129	0.271489948034	0.06336	T	0.002445	0.01836	T	-0.619652	0.00111	T	-0.649238	0.09007	T	0.00818391816680629	0.00098	T	0.657934	0.26722	T	0.04212725	0.06331	0.045202307	0.06031	0.04212725	0.06331	0.045202307	0.06031	-4.004	0.23864	T	.	.	0.102	0.22609	B	.;.	.;.	1.553032	0.19905	14.49	0.34166219941351694	0.02075	0.07927	0.13913	N	AEFDBI	0.119643	0.23342	N	-0.82455612829479	0.12684	0.6198627	-0.716785762217609	0.16542	0.875626	4.77055522160839E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	3.24	0.36257	0.090000	0.14865	0.409000	0.18089	0.599000	0.40250	0.047000	0.21291	0.042000	0.21616	0.964000	0.52637	0.1665:0.6579:0.0:0.1757	5.034	0.13763	640	0.64132	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1271.98	37	chr15	84031415	.	C	G	1271.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.374e+00;DP=810;ExcessHet=0.0000;FS=2.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-1.339e+00;SOR=0.455	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1286,0,1290	20	0	1	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	1/1:0,113,0:113:99:3742,339,0,3742,339,3742	0	11	9	0
chr15	86262866	86262866	T	C	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon10:c.T1058C:p.M353T,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.867	P	0.463	P	0.000	D	0.736	N	2.135	M	2.85	T	-0.769	T	0.144	T	0.485	1.426	10.71	4.36	0.885	5.520	12.117	0.135	0.0225064694165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232522856	1.382e-06	1.096e-05	1.374e-06	1.389e-06	1.182e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.078e-07	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.791	0.44643	P	0.15	0.34161	B	0.000431	0.44522	D	0.244651	0.73612	0.29781	N	2.34	0.67151	M	.	.	.	.	.	.	.	.	-0.7689	0.56918	T	0.144	0.46623	T	10	0.3978079	0.55352	T	0.022506	0.45406	T	0.135	0.36572	0.288	0.24761	0.350964488264	0.34705	0.3220213190486209	0.32115	0.0118701311964	0.01121	0.431409180164	0.29401	T	0.018676	0.15012	T	-0.13799	0.30211	T	-0.330704	0.41391	T	0.701831459999084	0.40806	D	0.751225	0.37284	T	0.1695493	0.37479	0.3762269	0.62749	0.1695493	0.37478	0.3762269	0.62749	.	.	.	.	.	0.455	0.69456	A	.;.	.;.	2.703601	0.35325	19.87	0.97119274614771356	0.32447	0.97689	0.76430	D	AEFI	0.684393	0.64675	D	0.186503835777567	0.50551	3.244031	0.174009336101292	0.48427	3.058835	0.953360065301986	0.28069	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	4.36	0.51643	5.703000	0.67994	5.070000	0.47169	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0:0.0:0.1431:0.8569	12.117	0.53172	509	0.75304	.;.	.	.	.	.	.	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	0.04762	131.1	90	chr15	86262866	.	T	C	131.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.055e+00;DP=1321;ExcessHet=0.1072;FS=121.526;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.08;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,22:115:99:0|1:86262866_T_C:127,0,3133:86262866	19	0	2	0
chr15	86262867	86262867	G	A	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon10:c.G1059A:p.M353I,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.617	P	0.242	B	0.000	D	0.642	N	2.135	M	2.92	T	-0.748	T	0.127	T	0.34	1.463	10.84	5.5	2.578	2.277	13.378	0.096	0.0201173805675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866857305	6.876e-07	2.053e-06	1.367e-06	0	2.999e-05	0	0	.	.	2.999e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.36807	P	0.057	0.26280	B	0.000431	0.44522	D	0.244651	0.641972	0.30608	N	2.34	0.67151	M	.	.	.	.	.	.	.	.	-0.7477	0.58055	T	0.127	0.43462	T	10	0.3451473	0.51494	T	0.020117	0.42647	T	0.096	0.27654	0.336	0.32491	0.345859378078	0.34197	0.1783097779329804	0.17749	0.010741408872	0.00990	0.362168550491	0.19702	T	0.029575	0.21161	T	-0.135658	0.30584	T	-0.43264	0.29636	T	0.74590927362442	0.43058	D	0.844715	0.52235	T	0.30360717	0.53226	0.42711985	0.66467	0.30360717	0.53227	0.42711985	0.66467	.	.	.	.	.	0.54	0.74232	A	.;.	.;.	2.826069	0.37245	20.4	0.99212663506296006	0.55655	0.91102	0.52864	D	AEFI	0.434504	0.49552	N	0.112744732671943	0.47055	2.936776	0.169067475961984	0.48160	3.035824	0.728346301735861	0.23014	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	2.324000	0.43491	6.634000	0.56161	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.0:0.0:0.8429:0.1571	13.378	0.60194	509	0.75304	.;.	.	.	.	.	.	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	0.09524	224.91	90	chr15	86262867	.	G	A	224.91	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.793e+00;DP=1376;ExcessHet=0.6776;FS=121.756;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.46;ReadPosRankSum=0.486;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,22:115:99:0|1:86262866_T_C:127,0,3133:86262866	17	0	4	0
chr15	88913307	88913307	G	T	exonic	MFGE8	.	nonsynonymous SNV	MFGE8:NM_001114614:exon1:c.C13A:p.R5S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.989	D	0.368	N	0.965	N	0	N	-4.76	D	0.609	D	0.907	D	0.465	-0.447	1.925	1.92	0.270	-0.296	8.843	0.395	.	.	0.000599042	0.0010	0	0	0	.	0.0012	0	0.0010	0.0003752	58	154602	rs541808249	0.0031	0.0029	0.0032	0.0030	0.0037	0.0030	0.0030	0.0034	0.0034	0.0005	0.0037	0	0	0.0030	0.0015	0.0035	0.0030	0.0007	0.0023	0.0023	0.0024	0.0022	0.0036	0.0021	0.0021	0.0031	0.0030	0.0005	0	0.0036	0	0	0.0029	0.0068	0.0035	0.0043	0.0006	0.05	0.91255	D	0.057	0.46406	T	0.98	0.59353	D	0.894	0.63417	P	0.368314	0.04346	N	1.382810	1	0.25939	N	2.005	0.54552	M	-4.92	0.98371	D	-0.56	0.18459	N	0.185	0.23758	0.609	0.92020	D	0.907	0.96902	D	10	0.012726665	0.00272	T	.	.	.	0.395	0.71004	.	.	0.913854725395	0.91299	0.7229690774450754	0.72240	0.155256707888	0.17525	0.630314350128	0.57190	T	0.080609	0.36404	T	-0.174961	0.24489	T	-0.0268326	0.68578	D	0.0265965448380309	0.01487	T	0.568443	0.20183	T	0.085971884	0.19964	0.070137635	0.14867	0.085971884	0.19963	0.070137635	0.14866	-4.393	0.29462	T	.	.	0.324	0.55025	B	.;.;.;.;.	.;.;.;.;.	0.857941	0.12304	8.843	0.81081382692621717	0.13510	0.17658	0.19932	N	ALL	0.087166	0.17675	N	-0.931887144734954	0.10103	0.4811884	-1.07958604819307	0.08103	0.3969441	0.999999999999989	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.86	1.92	0.24912	-0.260000	0.08730	0.234000	0.16225	-1.205000	0.01357	0.002000	0.15269	0.957000	0.29195	0.182000	0.21359	0.1284:0.0:0.8716:0.0	8.843	0.34312	958	0.09170	.;.;.;.;.	.	.	.	.	.	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	0.04762	926.11	27	chr15	88913307	.	G	T	926.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.784;DP=546;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=0.985;SOR=0.654	GT:AD:DP:GQ:PL	0/1:12,24:36:99:582,0,213	19	0	2	0
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:28,35,0,0:63:99:1279,0,978,1365,1084,2448,1365,1084,2448,2448	8	0	10	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203057	Inborn_genetic_diseases|not_specified|Hereditary_spastic_paraplegia|POLG-related_disorder|Progressive_sclerosing_poliodystrophy|not_provided|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MedGen:C3661900|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:28,35,0,0:63:99:1279,0,978,1365,1084,2448,1365,1084,2448,2448	8	0	10	0
chr15	89333605	89333605	-	TGCTGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCAGCA:p.Q55_P56insQQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:28,35,0,0:63:99:1279,0,978,1365,1084,2448,1365,1084,2448,2448	8	0	10	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,19,18:37:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1493,689,628,773,0,732:89776889	0	0	0	0
chr15	94315605	94315605	A	C	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385009:exon3:c.A107C:p.E36A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.987	D	0.000	D	1.000	D	2.04	M	2.82	T	-1.151	T	0.079	T	0.877	4.479	24.0	6.07	2.326	5.214	14.152	0.276	0.0194971418049	.	.	1.654e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs746330087	6.157e-06	6.156e-06	2.722e-06	9.626e-06	0.0001	2.9e-06	2.1e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.031	0.53788	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.999955	0.81001	D	2.37	0.68279	M	2.82	0.10871	T	-2.6	0.61580	D	0.73	0.73916	-1.1510	0.00995	T	0.079	0.31284	T	10	0.73445344	0.74523	D	0.019497	0.41878	T	0.276	0.59253	0.738	0.87063	0.36355261348	0.35965	0.678859021871515	0.67824	0.0723726540009	0.08115	0.577921628952	0.49793	T	0.168979	0.52858	T	0.035928	0.56509	T	-0.00464047	0.70033	D	0.956566154956818	0.64789	D	0.926707	0.75759	D	0.41542068	0.61785	0.26150337	0.51929	0.41542068	0.61786	0.26150337	0.51928	-9.915	0.75012	D	.	.	0.454	0.63960	A	.;.;.	.;.;.	4.556378	0.71761	25.7	0.99726025522203388	0.82406	0.91805	0.54300	D	AEFBI	0.620528	0.60556	D	0.718604980138414	0.80852	7.38704	0.724804289491219	0.84264	8.243293	0.999999817475057	0.74766	0.638212	0.43195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	6.07	6.07	0.98675	5.673000	0.67781	11.151000	0.87351	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.152	0.64926	976	0.04745	C2 domain|C2 domain|C2 domain;.;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1905.98	69	chr15	94315605	.	A	C	1905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=1318;ExcessHet=0.0000;FS=1.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-2.021e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/1:101,83:184:99:1920,0,2646	20	0	1	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	3/3:2,3,0,61:66:97:2467,2405,3006,2525,2776,2849,102,97,221,0	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	3/3:2,3,0,61:66:97:2467,2405,3006,2525,2776,2849,102,97,221,0	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	3/3:2,3,0,61:66:97:2467,2405,3006,2525,2776,2849,102,97,221,0	8	2	8	0
chr15	101818615	101818615	C	G	exonic	OR4F15	.	stopgain	OR4F15:NM_001001674:exon1:c.C429G:p.Y143X,	.	.	441	1074	6	1	0	8	0.00371058	.	.	1038307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	N	1.000	D	.	.	.	.	.	.	.	.	.	0.523	6.835	-4.15	-0.325	-2.417	0.646	.	.	0.0035	0.00199681	0.0025	0.0010	0.0008	0	0.0014	0.0036	0	0.0022	0.0026132	404	154602	rs141388760	0.0042	0.0042	0.0043	0.0040	0.0050	0.0041	0.0041	0.0049	0.0049	0.0006	0.0011	7.652e-05	0	0.0011	0.0023	0.0050	0.0033	0.0018	0.0026	0.0026	0.0029	0.0022	0.0046	0.0023	0.0023	0.0042	0.0040	0.0009	0	0.0012	0	0.0002	0.0012	0	0.0046	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	0.664011	0.05996	N	1.176380	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.003	0.00016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.295824	0.09058	T	-0.196203	0.55006	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive	High|High	4.301668	0.65684	24.9	0.97868569606668721	0.36513	0.02028	0.06083	N	AEFGI	0.029728	0.02859	N	-0.189757102578507	0.33559	1.905341	-0.605039151717948	0.19362	1.038546	5.30149568422699E-4	0.07225	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.57	-4.15	0.03617	-2.626000	0.00948	-20.000000	0.00162	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.2122:0.1714:0.3:0.3165	0.646	0.00766	819	0.41190	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.02381	3159.98	33	chr15	101818615	.	C	G	3159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=8.000e-03;DP=950;ExcessHet=0.0000;FS=1.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=1.03;SOR=0.796	GT:AD:DP:GQ:PL	0/1:138,120:258:99:3174,0,3739	20	0	1	0
chr16	716952	716952	C	G	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon3:c.C525G:p.S175R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.969	D	0.000	D	1.000	N	2.415	M	.	.	-0.698	T	0.227	T	0.493	1.615	11.36	-6.79	-1.483	-0.634	13.622	0.448	0.0142100118387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.11e-06	2.736e-06	4.172e-06	0	1.835e-06	5.6e-07	1.6e-07	3.1e-07	1.1e-07	0	0	0	0	0	0	1.835e-06	1.709e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.63226	T	0.195	0.72224	T	0.999	0.77913	D	0.969	0.72001	D	0.000251	0.46924	D	0.184221	1	0.08975	N	2.385	0.68708	M	1.56	0.29602	T	-3.31	0.65972	D	0.5	0.53269	-0.6978	0.60543	T	0.227	0.59196	T	9	0.3466386	0.51614	T	0.01421	0.34172	T	0.448	0.74935	0.335	0.32329	0.183819452728	0.17975	0.5677906162683896	0.56707	0.383440680805	0.39667	0.695596456528	0.66509	T	0.171615	0.51981	T	-0.133736	0.30894	T	-0.429879	0.29949	T	0.972743690013885	0.69818	D	0.905609	0.82399	D	0.46013534	0.64679	0.3097796	0.56991	0.46013534	0.64680	0.3097796	0.56990	-8.183	0.62310	D	.	.	0.486	0.67403	A	.;.;.	.;.;.	1.210135	0.16029	12.27	0.98311250536255357	0.40144	0.15053	0.18720	N	AEFDBCI	0.295636	0.40570	N	-0.665878337908994	0.17000	0.8710496	-1.0112667939555	0.09536	0.4750398	0.999999993602852	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	4.25	-6.79	0.01554	-0.665000	0.05386	-1.341000	0.05672	-0.863000	0.02614	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.2584:0.0:0.7416	13.622	0.61615	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1253.98	33	chr16	716952	.	C	G	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.030e-01;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.980;SOR=0.614	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1268,0,1424	20	0	1	0
chr16	788748	788748	G	A	exonic	CHTF18	.	nonsynonymous SNV	CHTF18:NM_022092:exon1:c.G64A:p.E22K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.989	D	0.878	P	0.024	N	1.000	D	1.845	L	2.29	T	-1.023	T	0.110	T	0.378	4.016	20.6	4.21	2.053	6.890	9.386	0.140	0.260808146967	.	.	3.431e-05	0	0.0002	0	0	3.069e-05	0	0	1.29e-05	2	154602	rs778695815	2.071e-06	4.788e-06	2.744e-06	1.389e-06	2.306e-05	5.5e-07	1.5e-07	.	.	0	2.306e-05	0	0	0	0	0	3.342e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.009	0.66756	D	0.885	0.51791	P	0.246	0.45317	B	0.024136	0.26317	N	0.426722	0.999892	0.50595	D	2.125	0.59049	M	2.29	0.25841	T	-2.47	0.53898	N	0.363	0.58713	-1.0227	0.22834	T	0.110	0.39651	T	10	0.32315877	0.49657	T	0.260808	0.89499	D	0.140	0.37593	0.427	0.47350	0.0846915920261	0.08053	0.49092862023901945	0.49012	.	.	0.906952857971	0.97174	D	0.353049	0.72039	T	-0.0797453	0.39756	T	-0.352325	0.38938	T	0.857115387916565	0.50790	D	0.90391	0.67067	D	0.14725971	0.33672	0.14388339	0.34179	0.14725971	0.33672	0.14388339	0.34178	-14.195	0.93673	D	.	.	0.942	0.86127	P	.;.;.;.	.;.;.;.	5.467695	0.91239	32	0.99888155944494095	0.96281	0.96729	0.70627	D	ALL	0.796382	0.72353	D	0.460960178516431	0.64829	4.746295	0.45234029935032	0.64866	4.752143	0.999999999999999	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.21	4.21	0.48984	4.630000	0.60995	11.304000	0.92346	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.442000	0.27716	0.1019:0.0:0.8981:0.0	9.386	0.37505	754	0.51307	.;.;.;.	.	.	.	.	.	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	0.02381	1387.98	35	chr16	788748	.	G	A	1387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.700;SOR=0.686	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1402,0,1194	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,45,0:45:99:.:.:1722,143,0,1722,143,1722	1	6	3	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:0,45,0:45:99:1722,143,0,1722,143,1722	8	6	2	4
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:0,45,0:45:99:1722,143,0,1722,143,1722	8	6	2	4
chr16	1432705	1432707	GAG	-	exonic	PERCC1	.	nonframeshift deletion	PERCC1:NM_001365310:exon2:c.112_114del:p.E47del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:7,6,0,0:13:99:206,0,249,227,267,494,227,267,494,494	12	1	6	0
chr16	1432707	1432707	-	GAG	exonic	PERCC1	.	nonframeshift insertion	PERCC1:NM_001365310:exon2:c.114_115insGAG:p.E47_G48insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:7,6,0,0:13:99:206,0,249,227,267,494,227,267,494,494	12	1	6	0
chr16	2020148	2020148	G	A	exonic	NPW	.	nonsynonymous SNV	NPW:NM_001099456:exon1:c.G247A:p.A83T,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.572	P	0.081	B	0.052	N	1.000	N	0.55	N	0.84	T	-1.040	T	0.066	T	0.16	2.162	13.18	-1.23	-0.148	0.079	2.659	0.052	0.0192777702933	.	0.00119808	0.0007	0.0002	0	0	0.0007	0	0.0020	0.0040	0.000414	64	154602	rs543718628	0.0002	0.0003	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	6.406e-05	0	0	0	0	0	8.213e-06	0.0003	0.0035	0.0002	0.0002	0.0001	0.0002	0.0050	0.0001	0.0001	0.0034	0.0029	0	0	0	0	0	0	0	2.943e-05	0	0.0050	0.0	0.91255	D	0.572	0.08746	T	0.572	0.38625	P	0.081	0.28987	B	0.051782	0.02029	N	2.314070	1	0.08975	N	0.895	0.22405	L	0.65	0.52642	T	-1.23	0.31170	N	.	.	-1.0397	0.17404	T	0.066	0.27364	T	10	0.004998833	0.00108	T	0.019278	0.41600	T	0.052	0.14661	0.115	0.02372	0.236278675362	0.23226	0.08620949880237444	0.08554	.	.	0.692877173424	0.66118	T	0.004702	0.04113	T	-0.54883	0.00296	T	-0.563238	0.16075	T	0.00448221744862612	0.00048	T	0.355964	0.08087	T	0.036118463	0.04381	0.07115768	0.15205	0.036118463	0.04381	0.07115768	0.15204	-5.096	0.37865	T	.	.	0.101	0.17360	B	.;.	.;.	0.984317	0.13618	10.15	0.97609398039474515	0.34898	0.04692	0.10377	N	AEFDBCI	0.086037	0.17444	N	-0.931990997336822	0.10100	0.4810701	-1.06504228309539	0.08396	0.4126544	0.999999953206814	0.74766	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.618803	0.45993	0	.	.	3.08	-1.23	0.08977	-0.173000	0.09844	2.041000	0.30300	-0.226000	0.07819	0.000000	0.06391	0.450000	0.24948	0.000000	0.00833	0.2723:0.0:0.3913:0.3364	2.659	0.04716	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	297.98	39	chr16	2020148	.	G	A	297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-02;DP=742;ExcessHet=0.0000;FS=4.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-1.874e+00;SOR=1.082	GT:AD:DP:GQ:PL	0/1:11,11:22:99:312,0,281	20	0	1	0
chr16	2243113	2243113	C	G	exonic	ECI1	.	nonsynonymous SNV	ECI1:NM_001178029:exon6:c.G624C:p.Q208H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.984	D	0.687	P	0.005	N	0.921	D	1.78	L	-0.37	T	-0.588	T	0.280	T	0.368	3.680	18.70	1.93	0.278	1.474	8.229	0.228	0.0252959807173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275332603	4.127e-06	4.788e-06	5.478e-06	2.764e-06	5.397e-06	1.48e-06	9.8e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.011	0.64786	D	0.41	0.60733	B	0.079	0.53665	B	0.005153	0.33053	N	0.325221	0.896816	0.36684	D	1.76	0.45711	L	-0.37	0.68892	T	-3.35	0.66436	D	0.405	0.44952	-0.5878	0.65308	T	0.280	0.65199	T	10	0.44234157	0.58180	T	0.025296	0.48274	D	0.228	0.52768	0.539	0.65018	0.521917627825	0.51837	0.8640712967216427	0.86371	0.114875971495	0.12958	0.264594018459	0.05451	T	0.408066	0.76350	T	-0.0162323	0.49389	T	-0.261093	0.48716	T	0.762332856655121	0.43986	D	0.752925	0.40827	T	0.40889648	0.61343	0.3063998	0.56665	0.40889648	0.61344	0.3063998	0.56664	-7.061	0.54478	T	.	.	0.287	0.51942	B	.;.;.;.	.;.;.;.	2.031302	0.25816	16.90	0.99550874682201151	0.71148	0.88756	0.48837	D	AEFBCI	0.593231	0.58863	D	-0.13839163023586	0.35730	2.056045	-0.124833577960037	0.34391	1.97778	0.954948328621518	0.28160	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	1.93	0.24985	1.516000	0.35463	0.420000	0.18209	-0.217000	0.08171	0.986000	0.36153	0.984000	0.30665	0.715000	0.34611	0.0:0.6157:0.3006:0.0837	8.229	0.30748	555	0.71762	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	379.98	31	chr16	2243113	.	C	G	379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.648e+00;DP=726;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.84;ReadPosRankSum=-3.400e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/1:22,21:43:99:394,0,585	20	0	1	0
chr16	4883820	4883820	A	C	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon22:c.T4835G:p.L1612R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.998	D	0.914	D	0.001	N	0.996	D	1.525	L	0.51	T	-0.580	T	0.264	T	0.741	3.248	16.89	5.71	2.188	8.923	15.988	0.219	0.0563521679867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467907731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.063	0.36709	T	0.096	0.39340	T	0.998	0.73220	D	0.914	0.64984	D	0.001497	0.38855	N	0.177480	0.996348	0.43151	D	2.535	0.73915	M	0.51	0.55439	T	-1.58	0.38151	N	0.496	0.58968	-0.5803	0.65605	T	0.264	0.63501	T	10	0.4287873	0.57352	T	0.056352	0.66574	D	0.219	0.51417	0.349	0.34598	0.865760524612	0.86446	0.6783154929122827	0.67770	0.116783608843	0.13174	0.389168202877	0.23553	T	0.35633	0.72320	T	0.129822	0.67344	D	-0.0512962	0.66933	D	0.908969223499298	0.56371	D	0.858514	0.54939	D	0.33461842	0.55847	0.3525741	0.60833	0.33461842	0.55847	0.3525741	0.60832	-5.307	0.40012	T	.	.	0.135	0.33435	B	.;.;.	.;.;.	4.124946	0.61682	24.4	0.99755464012938511	0.84615	0.97696	0.76478	D	AEFDGBCI	0.888280	0.82126	D	0.715678574218661	0.80659	7.343822	0.725803024820623	0.84338	8.264214	0.999999907078353	0.74766	0.67177	0.52595	0	0.379588	0.06130	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.71	5.71	0.89031	8.911000	0.92272	11.312000	0.92460	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	1.0:0.0:0.0:0.0	15.988	0.79969	474	0.77851	.;.;.	.	.	.	.	.	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	0.02381	1641.98	38	chr16	4883820	.	A	C	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=876;ExcessHet=0.0000;FS=8.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-1.137e+00;SOR=1.294	GT:AD:DP:GQ:PL	0/1:97,68:165:99:1656,0,2526	20	0	1	0
chr16	10694362	10694362	G	A	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.C512T:p.T171M,	.	.	430	1079	11	2	0	15	0.0069029	.	.	2734526	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.349	B	0.263	B	0.036	N	1.000	N	1.845	L	4.22	T	-0.977	T	0.010	T	0.148	0.502	6.721	-1.29	-0.203	0.881	1.099	0.035	0.00279208785526	0.0008	0.000599042	0.0008	0.0002	0.0003	0.0001	0	0.0010	0.0011	0.0015	0.0007827	121	154602	rs141349037	0.0008	0.0008	0.0007	0.0008	0.0016	0.0007	0.0007	0.0010	0.0009	8.964e-05	0.0007	0	0.0006	1.877e-05	0.0016	0.0008	0.0008	0.0011	0.0008	0.0008	0.0008	0.0007	0.0016	0.0006	0.0006	0.0011	0.0009	0.0002	0	0.0016	0	0	0	0	0.0010	0.0038	0.0008	0.042	0.41637	D	0.069	0.43913	T	0.349	0.33622	B	0.263	0.39594	B	0.036122	0.24559	N	0.388807	1	0.08975	N	2.74	0.80084	M	4.22	0.02640	T	-1.75	0.41428	N	0.078	0.05287	-0.9766	0.35772	T	0.010	0.03492	T	10	0.0109657645	0.00242	T	0.002792	0.05810	T	0.035	0.08770	.	.	0.337621943819	0.33374	0.18941319776833226	0.18859	0.0299138510749	0.03083	0.257611125708	0.04610	T	0.01257	0.11022	T	-0.552739	0.00281	T	-0.612299	0.11798	T	0.0199506188084361	0.00696	T	0.169183	0.01581	T	0.025660696	0.01529	0.053191353	0.08911	0.025660696	0.01529	0.053191353	0.08911	-4.507	0.30980	T	.	.	0.068	0.02733	B	.	.	0.779708	0.11501	8.099	0.97653324833016442	0.35149	0.18171	0.20149	N	AEFBI	0.176547	0.30376	N	-0.819251776562701	0.12818	0.627329	-0.942232056313591	0.11103	0.5636497	0.112956817541917	0.16697	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.63	-1.29	0.08805	0.953000	0.28759	.	.	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2102:0.1177:0.3104:0.3617	1.099	0.01576	970	0.06235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	777.98	34	chr16	10694362	.	G	A	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=913;ExcessHet=0.0000;FS=0.959;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=-6.900e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/1:50,31:81:99:792,0,1225	20	0	1	0
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	2/2:0,0,17,0,0:17:51:712,712,712,51,51,0,712,712,51,712,712,712,51,712,712	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	2/2:0,0,17,0,0:17:51:712,712,712,51,51,0,712,712,51,712,712,712,51,712,712	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	2/2:0,0,17,0,0:17:51:712,712,712,51,51,0,712,712,51,712,712,712,51,712,712	7	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:101,71:172:99:296,0,1556	1	0	20	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1565.86	33	chr16	14667707	.	GCCCC	G	1565.86	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-5.750e-01;DP=1119;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=0.627;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,13:52:99:0|1:14667707_GCCCC_G:196,0,1369:14667707	13	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,13,0,0:52:99:0|1:14667707_GCCCC_G:196,0,1369,312,1406,1719,312,1406,1719,1719:14667707	12	0	6	1
chr16	14667711	14667711	-	GGGA	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGA:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,13,0,0:52:99:0|1:14667707_GCCCC_G:196,0,1369,312,1406,1719,312,1406,1719,1719:14667707	12	0	6	1
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,13,0,0:52:99:0|1:14667707_GCCCC_G:196,0,1369,312,1406,1719,312,1406,1719,1719:14667707	12	0	6	1
chr16	18547267	18547267	A	C	exonic	NOMO2	.	stopgain	NOMO2:NM_001004060:exon6:c.T543G:p.Y181X	.	.	869	650	3	0	0	3	0.00230238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.433	37	2.61	0.583	2.426	8.373	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1480794961	0.0047	0.0050	0.0050	0.0045	0.0059	0.0046	0.0045	0.0056	0.0055	0.0018	0.0058	0.0020	3.211e-05	0.0019	0.0044	0.0059	0.0063	0.0038	0.0030	0.0036	0.0034	0.0025	0.0044	0.0027	0.0026	0.0039	0.0037	0.0009	0	0.0037	0.0031	0	0.0013	0.0038	0.0044	0.0067	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.494	0.52829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55994	0.96164	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.	.;High;.;.;.	6.125799	0.94619	34	0.99754340038431377	0.84537	0.91081	0.52822	D	AEFI	0.104209	0.20857	N	0.493972120828858	0.66735	4.988969	0.298125522242404	0.55431	3.706032	8.32273602624631E-6	0.01202	0.732398	0.92422	0	0.709663	0.81188	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	3.72	2.61	0.30255	1.886000	0.39322	-0.149000	0.11438	0.338000	0.19717	1.000000	0.71638	0.004000	0.18990	0.781000	0.36947	0.9025:0.0:0.0975:0.0	8.373	0.31585	934	0.15400	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	30.13	16	chr16	18547267	.	A	C	30.13	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.036e+00;DP=152;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0348;MLEAC=1;MLEAF=0.024;MQ=25.00;MQRankSum=0.00;QD=6.03;ReadPosRankSum=1.65;SOR=0.446	GT:AD:DP:GQ:PL	0/1:3,2:5:44:44,0,74	20	0	1	0
chr16	22534048	22534059	ACCCTCAGCTCC	-	exonic	NPIPB5	.	nonframeshift deletion	NPIPB5:NM_001135865:exon7:c.1065_1076del:p.P359_A362del,	.	.	501	975	46	0	0	46	0.0230461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0	0	0	0	0.0045	0	0	3.84e-05	1	26028	rs761773343	0.0030	0.0046	0.0029	0.0032	0.0158	0.0030	0.0029	0.0127	0.0115	0.0006	0.0019	0.0144	0.0002	0.0051	0.0158	0.0024	0.0037	0.0087	0.0051	0.0060	0.0051	0.0052	0.0165	0.0048	0.0046	0.0130	0.0117	0.0009	0	0.0049	0.0230	0	0.0040	0.0099	0.0068	0.0072	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5355.64	40	chr16	22534047	.	TACCCTCAGCTCC	T	5355.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.67;DP=2203;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=35.28;MQRankSum=-2.815e+00;QD=3.99;ReadPosRankSum=0.849;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:324,79:403:99:0|1:22534047_TACCCTCAGCTCC_T:2273,0,13175:22534047	18	0	3	0
chr16	24823615	24823615	C	G	exonic	TNRC6A	.	nonsynonymous SNV	TNRC6A:NM_001330520:exon24:c.C5550G:p.H1850Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.296	B	0.091	B	0.000	D	1.000	D	0.49	N	2.9	T	-0.909	T	0.181	T	0.658	0.577	7.114	5.64	2.638	3.275	19.710	0.070	0.00745683041952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.10278	T	0.587	0.08870	T	0.106	0.32457	B	0.062	0.29943	B	0.000006	0.62929	D	0.109070	0.999999	0.58761	D	0.605	0.15622	N	2.89	0.27486	T	-2.73	0.62151	D	0.316	0.44761	-0.9091	0.46965	T	0.181	0.52767	T	10	0.24845925	0.42142	T	0.007457	0.19792	T	0.160	0.41473	0.177	0.08379	0.421483936565	0.41765	0.36058700466587434	0.35972	0.021854352103	0.02186	0.742125868797	0.73286	T	0.055263	0.34521	T	-0.0353623	0.46635	T	-0.288572	0.45923	T	0.471335291862488	0.31580	T	0.779122	0.41282	T	0.23340985	0.46144	0.28959912	0.54980	0.23340985	0.46144	0.28959912	0.54979	-1.789	0.02476	T	.	.	0.130	0.48998	B	.;.;.	.;.;.	2.635673	0.34287	19.58	0.89079624420416326	0.18494	0.86733	0.46077	D	AEFDBCI	0.319252	0.42271	N	0.247010542987415	0.53490	3.517744	0.37780555842138	0.60198	4.20487	0.999999994956089	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	3.524000	0.53250	5.956000	0.51737	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.710	0.96089	353	0.85335	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1567.98	35	chr16	24823615	.	C	G	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.220e-01;DP=822;ExcessHet=0.0000;FS=0.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.715;SOR=0.588	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1582,0,1406	20	0	1	0
chr16	28063202	28063202	T	C	exonic	GSG1L	.	nonsynonymous SNV	GSG1L:NM_001109763:exon1:c.A223G:p.T75A	.	.	267	1247	1	0	7	8	0.000400802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.0	B	.	.	1.000	D	0.345	N	1.59	T	-1.013	T	0.029	T	0.083	-0.255	2.774	-0.362	-0.148	-0.022	2.897	0.033	.	.	0.00419329	0.0029	0	0.0132	0	0	0.0005	0.0125	0.0036	0.0001682	26	154602	rs575891942	0.0008	0.0007	0.0008	0.0009	0.0130	0.0008	0.0008	0.0119	0.0114	0.0022	0.0008	0.0003	0.0130	0.0002	0.0010	0.0003	0.0018	0.0048	0.0015	0.0015	0.0014	0.0015	0.0086	0.0013	0.0013	0.0066	0.0059	0.0028	0	0.0003	0	0.0086	0.0001	0	0.0004	0.0019	0.0056	0.811	0.03028	T	0.508	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.345	0.11182	N	1.59	0.28836	T	-0.45	0.14782	N	0.06	0.08786	-1.0130	0.25975	T	0.029	0.12409	T	9	0.0061700046	0.00139	T	.	.	.	0.033	0.08068	.	.	0.147330786459	0.14319	0.20334576646589508	0.20251	0.446931862471	0.44553	0.834683299065	0.87281	D	0.006061	0.05498	T	-0.314609	0.07348	T	-0.68969	0.06406	T	0.0154890481041365	0.00350	T	0.259474	0.04134	T	0.038631503	0.05182	0.057038188	0.10300	0.038631503	0.05182	0.057038188	0.10299	-1.196	0.01245	T	.	.	0.049	0.00175	B	.;.	.;.	1.487208	0.19133	14.11	0.59106838978432086	0.06147	0.09896	0.15546	N	AEFDBI	0.037971	0.05303	N	-0.921184478706343	0.10347	0.4940279	-0.865706259245662	0.12910	0.6668536	0.99952980648506	0.40175	0.455138	0.09556	0	0.578056	0.33634	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	0.779	-0.362	0.11935	-0.070000	0.11483	0.292000	0.16883	0.290000	0.18761	0.985000	0.35982	0.999000	0.35428	0.977000	0.56843	0.0:0.5615:0.0:0.4385	2.897	0.05344	862	0.33134	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	924.98	44	chr16	28063202	.	T	C	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.149;SOR=0.739	GT:AD:DP:GQ:PL	0/1:38,43:81:99:939,0,789	20	0	1	0
chr16	29383427	29383427	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1505G:p.H502R,	.	.	674	809	29	8	2	47	0.0270595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	.	.	.	.	.	.	1.000	N	0	N	2.39	T	-0.953	T	0.015	T	0.018	-1.379	0.025	.	.	.	.	0.101	.	.	.	0.0826	0.5	0	.	0	0.0484	0	0.1630	7.68e-05	2	26028	rs77403205	0.0033	0.0031	0.0028	0.0037	0.0300	0.0031	0.0030	0.0265	0.0251	0.0033	0.0087	0.0022	0.0300	0.0016	0.0018	0.0014	0.0027	0.0086	0.0009	0.0005	0.0013	0.0006	0.0012	0.0003	0.0001	0.0002	8.718e-05	0	0	0	0.0111	0	0	0	0.0012	0	0	0.862	0.02658	T	0.416	0.14284	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.39	0.15724	T	0.98	0.01447	N	0.022	0.00372	-0.9531	0.40433	T	0.015	0.06282	T	4	0.0016781092	0.00021	T	.	.	.	0.101	0.28911	0.155	0.05858	.	.	0.018486071411131396	0.01802	.	.	.	.	.	0.002524	0.01914	T	-0.454797	0.01058	T	-0.891061	0.00568	T	0.0150007129087241	0.00322	T	0.428457	0.11587	T	0.051112827	0.09338	0.10343577	0.24818	0.051112827	0.09337	0.10343577	0.24817	0.315	0.00255	T	.	.	0.091	0.13174	B	.	.	-0.130205	0.03466	0.643	0.31851799518974977	0.01816	0.00096	0.00628	N	AEFDI	0.031964	0.03522	N	-0.523483715401697	0.21323	1.130716	-0.568996682795784	0.20303	1.093282	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	-0.909000	0.04167	-2.619000	0.03542	-2.558000	0.00246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1029.26	13	chr16	29383427	.	T	C	1029.26	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-7.310e-01;DP=1336;ExcessHet=0.0082;FS=24.193;InbreedingCoeff=0.3747;MLEAC=4;MLEAF=0.100;MQ=48.93;MQRankSum=0.357;QD=16.87;ReadPosRankSum=-2.268e+00;SOR=3.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,15:23:99:.:.:329,0,228	17	1	2	1
chr16	29383627	29383627	A	-	exonic	NPIPB11	.	frameshift deletion	NPIPB11:NM_001310137:exon8:c.1305delT:p.E436Sfs*161,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183606516	0.0031	0.0018	0.0030	0.0031	0.0067	0.0029	0.0029	0.0057	0.0054	0.0038	0.0067	0.0028	0.0046	0.0017	0.0022	0.0025	0.0033	0.0050	0	5.194e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	241.03	54	chr16	29383626	.	CA	C	241.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.038e+00;DP=1005;ExcessHet=0.0000;FS=2.301;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.024;MQ=31.05;MQRankSum=0.651;QD=7.53;ReadPosRankSum=-1.256e+00;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,29:32:29:0|1:29383626_CA_C:255,0,29:29383626	20	0	1	0
chr16	29383627	29383627	A	0	exonic	NPIPB11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2296.18	77	chr16	29383627	.	A	G,*	2296.18	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=2.03;DP=1184;ExcessHet=0.0208;FS=58.039;InbreedingCoeff=0.4285;MLEAC=11,1;MLEAF=0.275,0.025;MQ=35.46;MQRankSum=-8.430e-01;QD=5.36;ReadPosRankSum=-3.321e+00;SOR=3.437	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,2,29:32:23:1|0:29383626_CA_C:745,305,259,85,0,23:29383626	11	3	5	1
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,22,0:149:99:0|1:29485610_ACACACTC_A:727,0,4516,988,4660,5761:29485610	7	0	12	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	0.68	T	-1.008	T	0.075	T	0.027	-0.551	1.503	-2.28	-0.568	-0.033	2.621	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1574.94	129	chr16	50669118	.	A	G	1574.94	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.087e+00;DP=2354;ExcessHet=1.7912;FS=129.128;InbreedingCoeff=-0.1838;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=0.663;SOR=9.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,27:136:99:0|1:50669118_A_G:551,0,3535:50669118	15	0	6	0
chr16	50710770	50710770	C	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C778T:p.H260Y	Blau syndrome, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	335167	Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.778	P	0.331	B	0.720	N	1.000	N	1.79	L	-0.39	T	-0.849	T	0.228	T	0.097	-0.937	0.365	1.89	0.612	0.283	5.947	0.093	0.0755176424288	.	0.000199681	0.0002	0	0	0	0	9.044e-05	0	0.0012	0.0001682	26	154602	rs560242309	9.577e-05	9.577e-05	5.173e-05	0.0001	0.0011	8.242e-05	7.783e-05	0.0010	0.0009	2.987e-05	2.236e-05	7.652e-05	0	0	0	2.788e-05	9.935e-05	0.0011	8.535e-05	8.53e-05	7.708e-05	9.4e-05	0.0012	4.954e-05	3.96e-05	0.0005	0.0004	0	0	0	0.0003	0	0	0	8.821e-05	0	0.0012	0.247	0.17296	T	0.088	0.40586	T	0.71	0.44187	P	0.331	0.42107	B	0.720452	0.09939	N	0.879276	1	0.08975	N	2.4	0.69460	M	-0.39	0.69158	T	-0.48	0.15379	N	0.287	0.32481	-0.8491	0.52031	T	0.228	0.59334	T	10	0.015672088	0.00329	T	0.075518	0.72308	D	0.093	0.26882	0.394	0.41935	0.85122213326	0.84978	0.2950484620605109	0.29417	0.174343088039	0.19631	0.361590087414	0.19617	T	0.139405	0.47341	T	-0.477495	0.00765	T	-0.504216	0.21911	T	0.0380062216289892	0.03332	T	0.621038	0.23867	T	0.048267987	0.08386	0.055599783	0.09783	0.055156253	0.10680	0.05544129	0.09725	-5.165	0.39033	T	0.151687570851949	0.17913	0.081	0.08224	B	.;.	.;.	-0.181879	0.03184	0.523	0.69058281142014677	0.08851	0.09273	0.15062	N	AEFDBI	0.161868	0.28797	N	-0.470339698370466	0.23056	1.235474	-0.595641457302444	0.19605	1.05266	0.999960056352405	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.62	1.89	0.24700	0.407000	0.20770	0.069000	0.14235	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.5928:0.0:0.4072	5.947	0.18460	701	0.57775	.;.	.	.	.	.	.	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	0.02381	1205.98	33	chr16	50710770	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.200e-02;DP=1317;ExcessHet=0.0000;FS=2.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.383;SOR=0.476	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1220,0,1672	20	0	1	0
chr16	50711957	50711957	G	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.G1965T:p.L655F	Blau syndrome, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	341657	Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1|not_provided	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.007	N	0.998	D	2.965	M	-1.41	T	0.376	D	0.671	D	0.546	3.090	16.32	3.63	1.386	0.210	8.806	0.534	0.478993356709	0.0002	0.000199681	0.0005	0	8.657e-05	0	0	0.0003	0	0.0022	0.0003687	57	154602	rs149002807	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0015	0.0014	2.987e-05	0.0002	7.667e-05	0	0	0.0019	9.626e-05	0.0002	0.0018	0.0001	0.0001	0.0001	9.393e-05	0.0012	7.083e-05	5.741e-05	0.0005	0.0004	0	0	6.53e-05	0.0003	0	0	0	0.0001	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.007265	0.31496	N	0.129081	0.997575	0.44002	D	3.32	0.90714	M	-1.41	0.80560	T	-3.47	0.67824	D	0.42	0.45992	0.376	0.88743	D	0.671	0.88583	D	10	0.077540606	0.12250	T	0.478993	0.94809	D	0.534	0.80426	0.416	0.45544	0.893543592845	0.89249	0.5707385127607776	0.57001	0.487261875694	0.47556	0.625223755836	0.56467	T	0.529774	0.83706	D	-0.203846	0.20251	T	-0.072372	0.65457	T	0.191812233418415	0.19951	T	0.79872	0.44372	T	0.51463276	0.67950	0.5295364	0.72817	0.46760502	0.65143	0.5512331	0.74051	-6.16	0.47598	T	0.2522952636463176	0.34135	0.179	0.42200	B	.;.	.;.	2.715124	0.35499	19.91	0.99871678565668276	0.94902	0.59307	0.30879	D	AEFDGBHCI	0.291368	0.40251	N	0.528859531212123	0.68803	5.267871	0.434616700632308	0.63737	4.61332	0.999998963700742	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.74	3.63	0.40741	0.257000	0.18137	3.261000	0.37092	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.940000	0.48062	0.0:0.2805:0.5649:0.1546	8.806	0.34100	697	0.58201	.;.	.	.	.	.	.	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	1	0	0.02381	1543.98	33	chr16	50711957	.	G	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=896;ExcessHet=0.0000;FS=4.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=-1.080e-01;SOR=0.354	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1558,0,1388	20	0	1	0
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.679	P	0.136	B	0.000	D	1.000	D	1.39	L	1.52	T	-1.096	T	0.060	T	0.366	2.071	12.88	5.39	2.528	4.514	15.888	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1765	123.4	57	chr16	67228398	.	C	G	123.4	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.360e+00;DP=1501;ExcessHet=1.7912;FS=113.169;InbreedingCoeff=-0.2184;MLEAC=6;MLEAF=0.176;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=0.968;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,13:85:14:.:.:14,0,2431	11	0	6	4
chr16	67376805	67376805	C	T	exonic	LRRC36	.	nonsynonymous SNV	LRRC36:NM_001161575:exon8:c.C1376T:p.T459M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.07	B	0.015	B	0.536	N	1.000	N	0	N	3.18	T	-0.945	T	0.010	T	0.077	0.975	8.979	1.02	0.630	-0.099	1.296	0.049	0.0035065600798	.	0.000998403	0.0005	9.61e-05	0	0	0	0	0	0.0038	0.0004398	68	154602	rs528698800	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0029	0.0028	2.987e-05	0	0	2.519e-05	0	0	6.296e-06	0.0001	0.0033	0.0001	0.0001	5.14e-05	0.0002	0.0041	8.66e-05	7.253e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	0.234	0.19430	T	0.058	0.46182	T	0.029	0.23866	B	0.015	0.17295	B	0.535726	0.11589	N	0.811699	1	0.08975	N	-0.345	0.03330	N	3.18	0.18414	T	-0.1	0.12661	N	0.078	0.15328	-0.9454	0.41748	T	0.010	0.03492	T	10	0.002556324	0.00039	T	0.003507	0.07969	T	0.049	0.13647	0.089	0.00982	0.115124310173	0.11017	0.10759070987286498	0.10688	0.247808654017	0.27336	0.27490311861	0.06792	T	0.002616	0.02004	T	-0.693311	0.00040	T	-0.770776	0.02743	T	0.0159900699703399	0.00381	T	0.573543	0.20534	T	0.013121278	0.00050	0.035443377	0.02798	0.013121278	0.00050	0.035443377	0.02798	-4.462	0.31356	T	.	.	0.116	0.23500	B	.;.	.;.	0.454113	0.08239	4.981	0.84181126834043829	0.15143	0.01526	0.05029	N	AEFGBI	0.067414	0.13251	N	-1.15548707195649	0.05690	0.2600559	-1.12035802260579	0.07311	0.3551716	0.068642890552299	0.15464	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.52	1.02	0.19102	-0.052000	0.11821	0.348000	0.17448	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.177000	0.21203	0.1613:0.4501:0.1771:0.2115	1.296	0.01944	22	0.98466	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1082.98	33	chr16	67376805	.	C	T	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.509;DP=775;ExcessHet=0.0000;FS=4.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=-1.695e+00;SOR=0.734	GT:AD:DP:GQ:PL	0/1:29,43:72:99:1097,0,657	20	0	1	0
chr16	67842923	67842923	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.369_370insCAG:p.Q132_S133insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8936.32	34	chr16	67842920	.	ACAG	A,ACAGCAG	8936.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.124;DP=1180;ExcessHet=0.9430;FS=4.197;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.55;ReadPosRankSum=0.922;SOR=1.032	GT:AD:DP:GQ:PL	0/1:30,21,0:51:99:784,0,1165,875,1229,2104	13	1	6	0
chr16	67991138	67991138	T	C	exonic	DPEP2	.	nonsynonymous SNV	DPEP2:NM_001324159:exon4:c.A235G:p.S79G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.0	B	0.01	B	0.060	N	1.000	D	-0.1	N	2.08	T	-1.034	T	0.021	T	0.191	0.754	7.992	4.34	2.198	1.589	7.477	0.060	0.00482640593218	.	0.00139776	0.0008	0	0	0	0	0	0	0.0062	0.0007244	112	154602	rs552543500	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	0	0	0	0	0	0.0002	8.993e-07	0.0004	0.0053	0.0002	0.0002	6.423e-05	0.0003	0.0052	0.0001	9.694e-05	0.0036	0.0031	0	0	0	0	0	0	0	0	0	0.0052	0.399	0.10517	T	0.497	0.11299	T	0.0	0.02946	B	0.01	0.14941	B	0.059598	0.22312	N	0.515573	0.998827	0.21877	N	0.04	0.08086	N	2.08	0.20255	T	-1.4	0.34596	N	0.274	0.31478	-1.0335	0.19332	T	0.021	0.08639	T	10	0.010953546	0.00242	T	0.004826	0.12066	T	0.060	0.17295	0.357	0.35897	0.163833314356	0.15978	0.609239818791915	0.60855	.	.	0.397962868214	0.24785	T	0.016292	0.13495	T	-0.245149	0.14698	T	-0.589916	0.13674	T	0.0309694274244703	0.02142	T	0.776522	0.42156	T	0.07428802	0.16661	0.104109585	0.24996	0.07428802	0.16661	0.104109585	0.24995	-4.627	0.32509	T	.	.	0.081	0.11845	B	.;.;.;.	.;.;.;.	2.792446	0.36707	20.3	0.90635254092179729	0.19887	0.69885	0.34366	D	AEFBI	0.207301	0.33349	N	-0.55755673660794	0.20248	1.065968	-0.36034754839767	0.26190	1.445044	0.999987698918764	0.51787	0.615465	0.37627	0	0.633656	0.55848	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.44	4.34	0.51267	2.679000	0.46575	4.180000	0.42331	0.665000	0.62972	0.979000	0.35152	1.000000	0.68203	0.628000	0.32104	0.0:0.0952:0.0:0.9048	7.477	0.26554	10	0.99061	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	448.98	35	chr16	67991138	.	T	C	448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.231e+00;DP=771;ExcessHet=0.0000;FS=3.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-9.000e-01;SOR=1.596	GT:AD:DP:GQ:PL	0/1:17,20:37:99:463,0,441	20	0	1	0
chr16	69331250	69331250	C	T	exonic	COG8	.	nonsynonymous SNV	COG8:NM_001379261:exon5:c.G1708A:p.E570K,	Congenital disorder of glycosylation, type IIh	.	192	1305	18	7	0	32	0.012112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321486	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs139824417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0056	0.0035	0.0077	0.1222	0.0053	0.0051	0.1140	0.1108	0.0005	0	0.0017	0	0.0372	0	0	0.0002	0.0062	0.1222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	219.17	11	chr16	69331250	.	C	T	219.17	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.10;DP=213;ExcessHet=0.1072;FS=3.522;InbreedingCoeff=-0.0525;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.00;SOR=0.124	GT:AD:DP:GQ:PL	0/1:4,6:10:99:184,0,108	19	0	2	0
chr16	70174307	70174307	G	A	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon2:c.G29A:p.R10Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.0	B	0.014	N	1.000	N	0.345	N	3.44	T	-0.973	T	0.028	T	0.461	1.290	10.22	-2.53	-0.390	-3.020	9.347	0.090	.	.	0.00199681	0.0014	0	0	0.0001	0	0	0.0033	0.0084	0.0003842	10	26028	rs539671929	0.0004	0.0004	0.0002	0.0006	0.0060	0.0004	0.0004	0.0056	0.0054	0	0	0	5.344e-05	0	0	9.378e-06	0.0001	0.0060	0.0001	0.0001	6.263e-05	0.0002	0.0035	7.457e-05	5.949e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0035	0.232	0.23450	T	0.538	0.14818	T	0.001	0.07471	B	0.0	0.01387	B	0.014018	0.01379	N	2.659970	1	0.08975	N	0.345	0.11182	N	1.58	0.29085	T	-0.18	0.12099	N	0.043	0.02272	-0.9733	0.36496	T	0.028	0.12103	T	10	0.00616917	0.00139	T	.	.	.	0.090	0.26093	0.372	0.38340	0.362933182269	0.35899	0.22662006787302214	0.22577	.	.	.	.	.	0.008592	0.07877	T	-0.429899	0.01484	T	-0.570583	0.15397	T	0.0156079488632265	0.00356	T	0.373163	0.08910	T	0.023526765	0.01100	0.03238984	0.01968	0.023526765	0.01099	0.03238984	0.01968	-4.676	0.33112	T	.	.	0.086	0.10787	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.442465	0.00331	0.006	0.76579718263254348	0.11525	0.01104	0.04047	N	AEFI	0.050118	0.08728	N	-1.45335594802371	0.02190	0.09644861	-1.50212151430407	0.02328	0.1068991	2.59349930545905E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.28	-2.53	0.05959	-3.454000	0.00518	-4.134000	0.02323	-2.979000	0.00146	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6861:0.0:0.3139:0.0	9.347	0.37278	163	0.93656	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	77.16	5	chr16	70174307	.	G	A	77.16	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.263;DP=164;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0501;MLEAC=1;MLEAF=0.026;MQ=40.48;MQRankSum=-1.976e+00;QD=5.94;ReadPosRankSum=-5.640e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/1:8,5:13:90:90,0,184	18	0	1	2
chr16	70254652	70254652	T	A	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon17:c.A2369T:p.D790V,	.	.	0	1521	1	0	0	1	0.000328623	.	.	1674038	Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.16	T	0.01	B	0.028	B	0.000	D	1.000	D	1.7	L	-0.11	T	-0.810	T	0.211	T	0.85	3.246	16.88	5.43	2.059	7.631	13.433	0.313	0.0617684693905	.	0.00139776	0.0008	0	0	0	0	0	0.0011	0.0057	0.0006598	102	154602	rs555357914	0.0003	0.0003	0.0001	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	0	0	0	0	0	8.993e-07	8.279e-05	0.0048	0.0001	0.0001	7.713e-05	0.0001	0.0035	7.089e-05	5.746e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.134	0.26300	T	0.162	0.31225	T	0.003	0.11197	B	0.013	0.16460	B	0.000012	0.62929	D	0.146521	1	0.81001	D	2.4	0.69460	M	-0.11	0.64445	T	-1.35	0.33598	N	0.844	0.83987	-0.8103	0.54532	T	0.211	0.57161	T	10	0.012775153	0.00273	T	0.061768	0.68437	D	0.313	0.63482	0.384	0.40298	0.850749273957	0.84931	0.7860079156456936	0.78552	0.431329202958	0.43345	0.531196475029	0.43203	T	0.300432	0.67292	T	0.245617	0.78190	D	0.115036	0.77906	D	0.107449922415523	0.13157	T	0.955404	0.83015	D	0.45055103	0.64076	0.20474134	0.44611	0.45055103	0.64076	0.20474134	0.44610	-5.238	0.39326	T	0.17763471070921305	0.22729	0.093	0.13923	B	.	.	3.643900	0.51676	23.1	0.9857241151376297	0.43128	0.98165	0.80163	D	AEFDBHCI	0.936190	0.93215	D	0.0834075666545043	0.45690	2.821291	0.254064204124488	0.52881	3.460019	0.999999998451239	0.74766	0.645754	0.44609	0	0.697927	0.68747	0	0.697927	0.64325	0	0.723	0.93126	0	.	.	5.43	5.43	0.79006	7.632000	0.82419	6.090000	0.53436	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	13.433	0.60514	152	0.94023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1102.98	35	chr16	70254652	.	T	A	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.438e+00;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-7.210e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1117,0,909	20	0	1	0
chr16	71448650	71448650	C	T	exonic	ZNF23	.	nonsynonymous SNV	ZNF23:NM_001304494:exon3:c.G1201A:p.V401I	.	.	382	1139	1	0	0	1	0.000438789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.999	D	0.873	P	0.001	N	1.000	N	0.455	N	3.18	T	-1.001	T	0.024	T	0.327	1.389	10.57	4.27	2.659	-1.512	8.271	0.122	0.00760087399043	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330784737	9.577e-06	9.577e-06	9.529e-06	9.626e-06	0.0002	5.56e-06	4.35e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0.0002	8.094e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.11514	T	0.321	0.19972	T	0.999	0.77913	D	0.873	0.61978	P	0.001185	0.39899	N	0.000000	0.999754	0.48800	D	0.72	0.18721	N	3.18	0.07478	T	-0.42	0.14193	N	0.249	0.38643	-1.0011	0.29602	T	0.024	0.10374	T	10	0.11199984	0.20993	T	0.007601	0.20166	T	0.122	0.33800	.	.	0.3571064206	0.35317	0.02983468451510246	0.02932	0.309918074836	0.33302	0.602713346481	0.53288	T	0.038412	0.24832	T	-0.357424	0.04278	T	-0.575344	0.14963	T	0.34754267334938	0.26922	T	0.547145	0.18749	T	0.021172494	0.00706	0.026601281	0.00758	0.021172494	0.00706	0.026601281	0.00758	-4.714	0.33573	T	.	.	0.131	0.35162	B	.;.;.;.;.	.;.;.;.;.	2.746586	0.35986	20.1	0.97888787695074475	0.36655	0.00001	0.00044	N	AEFBHCI	0.073517	0.14706	N	-0.0519706356029744	0.39514	2.331454	-0.0741446844710749	0.36463	2.122317	0.693935032953907	0.22620	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	-1.305000	0.02846	0.666000	0.20549	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.990000	0.65344	0.0:0.8957:0.0:0.1043	8.271	0.31006	295	0.88218	.;.;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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1200.98	34	chr16	71448650	.	C	T	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.06;DP=777;ExcessHet=0.0000;FS=2.899;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-9.300e-01;SOR=0.871	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1215,0,928	20	0	1	0
chr16	71947503	71947503	A	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon22:c.T3707C:p.L1236S,	.	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0007	0.0010	0	0	0	0.0015	0	0	0.0001552	24	154602	rs200917227	0.0019	0.0018	0.0020	0.0018	0.0024	0.0018	0.0018	0.0023	0.0022	0.0002	0.0002	3.985e-05	0	0.0003	0.0018	0.0024	0.0012	0.0001	0.0014	0.0013	0.0016	0.0011	0.0026	0.0012	0.0012	0.0023	0.0022	0.0003	0	0.0009	0	0	9.764e-05	0	0.0026	0.0010	0.0002	.	.	.	0.002	0.79402	D	0.998	0.73220	D	0.863	0.61398	P	.	.	.	.	.	.	.	2.19	0.61577	M	.	.	.	.	.	.	0.549	0.57518	.	.	.	.	.	.	.	0.029564202	0.01083	T	.	.	.	.	.	.	.	0.209622950755	0.20551	0.2815174154147947	0.28064	.	.	0.324349761009	0.14080	T	0.028023	0.20393	T	-0.393358	0.02558	T	-0.338964	0.40462	T	.	.	.	0.424758	0.11367	T	0.17527133	0.38377	0.40094346	0.64617	0.17527133	0.38377	0.40094346	0.64617	-3.311	0.13879	T	.	.	0.271	0.50509	B	.	.	3.413851	0.47373	22.4	0.82212547084786658	0.14076	0.87115	0.46558	D	AEFDI	.	.	.	.	.	.	.	.	.	0.999744701595766	0.42466	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.058706	0.01089	0	0.917243	0.58151	4.99	4.99	0.65942	3.574000	0.53608	6.147000	0.54138	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.303000	0.24570	1.0:0.0:0.0:0.0	11.359	0.48873	78	0.96748	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	707.98	34	chr16	71947503	.	A	G	707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.280e-01;DP=872;ExcessHet=0.0000;FS=4.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=0.390;SOR=1.144	GT:AD:DP:GQ:PL	0/1:54,34:88:99:722,0,1380	20	0	1	0
chr16	72056553	72056553	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G112A:p.E38K	.	.	438	1080	4	0	0	4	0.00184843	.	.	703796	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.168	B	0.019	B	.	.	1.000	N	1.04	L	0.79	T	-1.025	T	0.078	T	0.517	-0.323	2.466	-2.33	-0.385	-0.094	6.607	0.140	.	0.0034	0.00159744	0.0032	0.0014	0.0106	0	0	0.0071	0	0	0.0014489	224	154602	rs201773535	0.0044	0.0044	0.0045	0.0043	0.0053	0.0043	0.0043	0.0052	0.0051	0.0006	0.0049	0.0006	0	0.0004	0.0012	0.0053	0.0038	0.0001	0.0029	0.0031	0.0032	0.0026	0.0061	0.0027	0.0026	0.0050	0.0046	0.0009	0	0.0061	0.0003	0	0	0	0.0043	0.0029	0	0.102	0.30235	T	0.155	0.34477	T	0.168	0.28654	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	2.455	0.71248	M	0.79	0.49068	T	-0.34	0.24244	N	0.222	0.30800	-1.0252	0.22017	T	0.078	0.31072	T	9	0.006028712	0.00135	T	.	.	.	0.140	0.37593	.	.	0.191931220699	0.18833	0.3532860704086001	0.35242	0.279873614581	0.30470	0.38136446476	0.22449	T	0.297948	0.67053	T	-0.467799	0.00878	T	-0.443647	0.28400	T	0.0062404167789313	0.00069	T	0.878412	0.59357	D	0.029206928	0.02378	0.04180595	0.04836	0.029952116	0.02574	0.038357724	0.03687	-7.468	0.57385	T	.	.	0.116	0.48167	B	.;.;.;.	.;.;.;.	0.329006	0.07030	3.593	0.70088412970894232	0.09182	0.02274	0.06564	N	AEFBI	0.637245	0.61609	D	-1.57819578434159	0.01377	0.06001448	-1.62383016018964	0.01517	0.06868153	0.961884908635742	0.28584	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	-2.33	0.06340	-0.073000	0.11428	0.441000	0.18425	-1.882000	0.00541	0.000000	0.06391	0.017000	0.20586	0.001000	0.02609	0.235:0.3561:0.4089:0.0	6.607	0.21928	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP 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	0.02381	451.98	18	chr16	72056553	.	G	A	451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=507;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=38.42;MQRankSum=1.31;QD=23.79;ReadPosRankSum=0.615;SOR=1.739	GT:AD:DP:GQ:PL	0/1:6,13:19:99:466,0,160	20	0	1	0
chr16	79599169	79599169	G	A	exonic	MAF	.	nonsynonymous SNV	MAF:NM_001031804:exon1:c.C734T:p.A245V	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.103	B	0.008	B	0.059	U	0.669	N	0.55	N	-1.26	T	-0.794	T	0.212	T	0.127	1.765	11.86	2.43	1.373	-0.232	8.400	0.128	0.32206401119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.376e-06	2.737e-06	3.266e-06	3.494e-06	4.145e-06	7.9e-07	5.3e-07	9.7e-07	6.5e-07	0	0	0	0	0	0	4.145e-06	0	0	6.816e-06	6.584e-06	0	1.402e-05	6.766e-05	0	0	.	.	0	0	6.766e-05	0	0	0	0	0	0	0	0.129	0.26852	T	0.302	0.21478	T	0.103	0.25884	B	0.008	0.13708	B	0.058868	0.22368	U	0.188573	0.66932	0.30379	N	0	0.06538	N	-1.26	0.79176	T	-0.36	0.13611	N	0.146	0.14763	-0.7942	0.55485	T	0.212	0.57214	T	10	0.19132939	0.34814	T	0.322064	0.91503	D	0.128	0.35103	0.184	0.09259	0.930958587709	0.93024	0.26778003735971484	0.26691	.	.	0.84415358305	0.88727	D	0.201143	0.55894	T	-0.118296	0.33402	T	-0.4077	0.32489	T	0.242747851572725	0.22545	T	0.484852	0.15758	T	0.09471182	0.22275	0.13796625	0.32962	0.09471182	0.22275	0.13796625	0.32961	-5.754	0.45170	T	0.3711001893197455	0.46660	0.100	0.29477	B	.;.;.	.;.;.	3.700708	0.52779	23.3	0.97950983676718362	0.37100	0.66311	0.33034	D	AEFDBCI	0.288431	0.40033	N	-0.38248472031794	0.26093	1.421439	-0.263309018202694	0.29317	1.641523	0.999996860012056	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	2.43	2.43	0.28797	1.926000	0.39715	8.161000	0.76737	0.459000	0.21562	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	8.400	0.31742	948	0.11499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	651.98	34	chr16	79599169	.	G	A	651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.770e-01;DP=851;ExcessHet=0.0000;FS=1.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.915;SOR=0.457	GT:AD:DP:GQ:PL	0/1:26,25:51:99:666,0,658	20	0	1	0
chr16	84016654	84016654	C	G	exonic	SLC38A8	.	nonsynonymous SNV	SLC38A8:NM_001080442:exon9:c.G1027C:p.G343R,	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive	.	412	1066	43	1	0	45	0.0206706	.	.	715113	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.58	T	0.996	D	0.843	P	0.001	D	0.977	D	1.39	L	4.44	T	-0.767	T	0.015	T	0.422	0.540	6.925	4.36	1.979	2.420	13.809	0.123	.	0.0015	0.00339457	0.0035	0.0004	0.0014	0	0.0002	0.0022	0.0045	0.0153	0.0030595	473	154602	rs113733057	0.0021	0.0021	0.0017	0.0026	0.0156	0.0021	0.0021	0.0143	0.0140	0.0004	0.0022	0.0243	0	1.885e-05	0.0156	0.0007	0.0039	0.0150	0.0020	0.0020	0.0018	0.0022	0.0124	0.0018	0.0018	0.0099	0.0090	0.0002	0	0.0039	0.0277	0	0	0.0068	0.0011	0.0033	0.0124	0.734	0.03764	T	0.857	0.03438	T	0.996	0.68779	D	0.843	0.60313	P	0.000626	0.42799	D	0.230494	0.976678	0.39297	D	1.26	0.31868	L	4.44	0.02139	T	0.88	0.01664	N	0.37	0.41162	-0.7667	0.57038	T	0.015	0.05801	T	10	0.0037727654	0.00070	T	.	.	.	0.123	0.34020	0.66	0.79791	0.218845423259	0.21516	0.8221951370456168	0.82176	.	.	0.434606850147	0.29839	T	0.016134	0.13395	T	-0.520904	0.00435	T	-0.508045	0.21517	T	0.0975460260413821	0.12084	T	0.794521	0.43681	T	0.12277327	0.28842	0.13418183	0.32159	0.14010163	0.32336	0.115680836	0.27924	-4.401	0.29571	T	0.19463165127106835	0.25652	0.128	0.27222	B	.	.	1.995967	0.25356	16.73	0.38185314514478214	0.02560	0.87881	0.47576	D	AEFDBI	0.629820	0.61140	D	0.123578966064112	0.47564	2.980404	0.0727503778097324	0.43184	2.625443	0.999998857313412	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.36	4.36	0.51643	2.625000	0.46117	1.737000	0.28371	0.535000	0.24933	0.062000	0.21832	0.265000	0.24010	0.035000	0.13729	0.0:1.0:0.0:0.0	13.809	0.62741	940	0.13648	Amino acid transporter, transmembrane domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1681.98	34	chr16	84016654	.	C	G	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.710e-01;DP=875;ExcessHet=0.0000;FS=2.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.159e+00;SOR=0.496	GT:AD:DP:GQ:PL	0/1:56,69:125:99:1696,0,1291	20	0	1	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:47,34,0,0,0,0:81:99:1238,0,1843,1383,1945,3328,1383,1945,3328,3328,1383,1945,3328,3328,3328,1383,1945,3328,3328,3328,3328	4	4	6	0
chr16	87604296	87604296	-	CTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTG:p.A157_V158insA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:47,34,0,0,0,0:81:99:1238,0,1843,1383,1945,3328,1383,1945,3328,3328,1383,1945,3328,3328,3328,1383,1945,3328,3328,3328,3328	4	4	6	0
chr16	87604296	87604296	-	CTGCTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTGCTG:p.A157_V158insAAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:47,34,0,0,0,0:81:99:1238,0,1843,1383,1945,3328,1383,1945,3328,3328,1383,1945,3328,3328,3328,1383,1945,3328,3328,3328,3328	4	4	6	0
chr16	87604294	87604296	CTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.437_439del:p.A157del,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:47,34,0,0,0,0:81:99:1238,0,1843,1383,1945,3328,1383,1945,3328,3328,1383,1945,3328,3328,3328,1383,1945,3328,3328,3328,3328	4	4	6	0
chr16	88431891	88431891	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C4421T:p.A1474V,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1454	64	4	0	72	0.0241611	.	.	192287	Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_specified|Ehlers-Danlos_syndrome|not_provided	MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.513	P	0.027	B	.	.	1.000	N	0.55	N	3.08	T	-0.955	T	0.011	T	0.118	1.593	11.28	2.7	0.383	1.024	3.017	0.043	.	.	0.00559105	0.0113	0.0019	0.0073	0	0.0294	0.0124	0.0109	0.0138	0.002542	393	154602	rs199897247	0.0081	0.0077	0.0076	0.0086	0.0314	0.0080	0.0079	0.0277	0.0262	0.0015	0.0053	0.0210	2.798e-05	0.0048	0.0314	0.0078	0.0088	0.0149	0.0066	0.0066	0.0065	0.0067	0.0157	0.0062	0.0061	0.0129	0.0119	0.0013	0	0.0068	0.0228	0	0.0038	0.0374	0.0091	0.0090	0.0157	0.228	0.18434	T	0.369	0.16522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.02	0.08986	T	-1.01	0.26639	N	0.085	0.06190	-0.9551	0.40078	T	0.011	0.04274	T	9	0.003430605	0.00060	T	.	.	.	0.043	0.11576	.	.	.	.	0.050505530543837704	0.04993	.	.	0.265331804752	0.05543	T	0.013903	0.11938	T	-0.670477	0.00055	T	-0.694891	0.06110	T	0.00365512448688516	0.00039	T	0.587141	0.21465	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32079	B	.;.	.;.	1.692541	0.21561	15.25	0.86204571369130123	0.16381	0.04496	0.10116	N	AEFBI	0.066037	0.12911	N	-0.733709411162593	0.15079	0.7567972	-0.785316965241292	0.14855	0.7783546	0.996168408527723	0.34566	0.764865	0.99124	0	0.547309	0.14657	0	0.731555	0.93304	0	0.604944	0.38103	0	.	.	4.7	2.7	0.31007	1.033000	0.29798	1.096000	0.24025	0.549000	0.26987	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.1464:0.5171:0.227:0.1096	3.017	0.05695	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.04762	6008.11	101	chr16	88431891	.	C	T	6008.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.480e-01;DP=2159;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.241;SOR=0.661	GT:AD:DP:GQ:PL	0/1:184,181:365:99:4654,0,4635	19	0	2	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L,	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.006	B	.	.	1.000	N	0.55	N	0.93	T	-1.033	T	0.051	T	0.09	-0.010	3.964	-3.42	-0.624	-0.269	1.749	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	851.14	104	chr16	88436039	.	G	C	851.14	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.850e+00;DP=2947;ExcessHet=1.7912;FS=169.057;InbreedingCoeff=-0.1947;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.04;SOR=12.397	GT:AD:DP:GQ:PL	0/1:107,45:152:99:146,0,1628	14	0	6	1
chr16	89816593	89816593	T	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon1:c.A23G:p.N8S	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	401943	Fanconi_anemia|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.94	T	0.001	B	0.003	B	0.167	N	1.000	N	0	N	0.27	T	-0.772	T	0.190	T	0.159	1.036	9.234	-8.45	-1.694	-3.615	2.011	0.071	0.588627036516	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs757468756	3.346e-05	3.352e-05	2.445e-05	4.268e-05	3.806e-05	2.565e-05	2.294e-05	2.831e-05	2.548e-05	0	0	0	0	0	0	3.806e-05	8.725e-05	0	3.949e-05	3.942e-05	3.86e-05	4.041e-05	7.359e-05	1.718e-05	1.131e-05	2.849e-05	1.86e-05	0	0	6.546e-05	0	0	0	0	7.359e-05	0	0	0.575	0.06282	T	0.781	0.20944	T	0.0	0.07471	B	0.001	0.08700	B	0.166706	0.03079	N	2.015170	1	0.08975	N	-0.345	0.03330	N	-1.7	0.83241	D	0.33	0.08653	N	0.095	0.10056	-0.7720	0.56748	T	0.190	0.54227	T	10	0.10909128	0.20336	T	0.588627	0.96338	D	0.071	0.20720	0.069	0.00373	0.60758616937	0.60443	0.05718368353854332	0.05659	.	.	0.638113498688	0.58295	T	0.054128	0.29635	T	-0.258583	0.13066	T	-0.428917	0.30057	T	0.0551954920542101	0.06390	T	0.651035	0.26183	T	0.03018734	0.02639	0.027294872	0.00872	0.03018734	0.02638	0.027294872	0.00872	-0.824	0.00916	T	.	.	0.063	0.03661	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.305878	0.00050	0.001	0.57143828860252588	0.05705	0.02245	0.06508	N	AEFGBHCIJ	0.029413	0.02771	N	-1.76110767003549	0.00648	0.02793268	-1.84342595581323	0.00630	0.02799102	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.22	-8.45	0.00826	-4.844000	0.00208	-14.423000	0.00404	-1.227000	0.01331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1112:0.2231:0.3309:0.3348	2.011	0.03276	588	0.69043	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	266.98	35	chr16	89816593	.	T	C	266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.997;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.36;ReadPosRankSum=-6.530e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/1:29,13:42:99:281,0,744	20	0	1	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2918.97	43	chr17	413815	.	C	T,*	2918.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-9.170e-01;DP=995;ExcessHet=1.0444;FS=2.763;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=51.80;MQRankSum=-3.755e+00;QD=7.60;ReadPosRankSum=-9.580e-01;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,23,0:58:99:0|1:413815_C_T:790,0,1210,894,1279,2173:413815	10	0	5	3
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3137.97	43	chr17	413822	.	C	A,*	3137.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-1.168e+00;DP=1002;ExcessHet=1.0444;FS=2.178;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.17;MQRankSum=-3.592e+00;QD=7.94;ReadPosRankSum=-4.250e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,22,0:59:99:0|1:413815_C_T:776,0,1297,886,1363,2248:413815	10	0	5	3
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3065.97	43	chr17	413824	.	C	T,*	3065.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.335;DP=1012;ExcessHet=1.0444;FS=2.500;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.20;MQRankSum=-3.428e+00;QD=7.59;ReadPosRankSum=-6.710e-01;SOR=0.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,22,0:61:99:0|1:413815_C_T:770,0,1356,886,1422,2308:413815	10	0	5	3
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3197.3	43	chr17	413831	.	A	G,*	3197.3	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.140;DP=1043;ExcessHet=1.1637;FS=2.534;InbreedingCoeff=0.0221;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.56;MQRankSum=-3.559e+00;QD=7.69;ReadPosRankSum=-1.155e+00;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,25,0:67:99:0|1:413815_C_T:840,0,1429,966,1504,2470:413815	10	0	5	3
chr17	997227	997227	C	G	exonic	TIMM22	.	nonsynonymous SNV	TIMM22:NM_013337:exon1:c.C85G:p.L29V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.005	B	0.000	N	0.999	D	1.735	L	0.88	T	-1.038	T	0.069	T	0.283	2.919	15.73	3.33	0.549	1.968	3.997	0.058	0.0452508466253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.03512	T	0.927	0.02804	T	0.005	0.12996	B	0.005	0.11217	B	0.000062	0.52346	N	0.130756	0.999371	0.46831	D	2.085	0.57729	M	0.88	0.46028	T	-0.51	0.15986	N	0.586	0.60664	-1.0377	0.18016	T	0.069	0.28313	T	10	0.1547006	0.29175	T	0.045251	0.61892	D	0.058	0.16647	0.339	0.32979	0.198526703765	0.19489	0.7466253873482146	0.74608	0.195102303501	0.21846	0.820188999176	0.85056	D	0.04306	0.26383	T	-0.147673	0.28675	T	-0.449898	0.27709	T	0.413177043199539	0.29436	T	.	.	.	0.2119215	0.43529	0.12767766	0.30731	0.2119215	0.43529	0.12767766	0.30730	-4.239	0.27313	T	.	.	0.206	0.43200	B	.	.	2.522007	0.32594	19.09	0.99280035745782425	0.57869	0.87961	0.47687	D	AEFGBHCIJ	0.168613	0.29539	N	-0.416503849400215	0.24890	1.347216	-0.262409581642872	0.29346	1.643448	0.99999999999826	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.42	3.33	0.37245	2.007000	0.40503	2.651000	0.33816	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.1641:0.5855:0.1591:0.0913	3.997	0.09053	917	0.20147	.	.	.	.	.	.	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	0.02381	870.98	33	chr17	997227	.	C	G	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.440e+00;DP=792;ExcessHet=0.0000;FS=2.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-5.600e-01;SOR=0.439	GT:AD:DP:GQ:PL	0/1:49,43:92:99:885,0,1150	20	0	1	0
chr17	3761067	3761067	T	C	exonic	ITGAE	.	nonsynonymous SNV	ITGAE:NM_002208:exon6:c.A544G:p.K182E,	.	.	387	1123	12	0	0	12	0.00531444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0.14	N	0.24	T	-0.993	T	0.044	T	0.062	-0.197	3.041	-6.0	-1.253	-1.083	5.559	0.030	.	0.0040	0.00319489	0.0081	0.0008	0.0029	0	0.0443	0.0088	0.0179	0.0024	0.0071927	1112	154602	rs140947594	0.0066	0.0067	0.0067	0.0066	0.0101	0.0065	0.0065	0.0080	0.0073	0.0009	0.0027	0.0267	2.519e-05	0.0453	0.0101	0.0052	0.0078	0.0031	0.0076	0.0076	0.0064	0.0088	0.0067	0.0072	0.0071	0.0061	0.0059	0.0009	0	0.0031	0.0242	0.0002	0.0476	0.0103	0.0067	0.0043	0.0037	0.893	0.02465	T	0.478	0.11968	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	0.24	0.59583	T	0.63	0.02404	N	0.283	0.32037	-0.9933	0.31749	T	0.044	0.18989	T	9	0.002430737	0.00036	T	.	.	.	0.030	0.07022	.	.	0.277730125212	0.27379	0.3108634347719667	0.30999	0.216895208619	0.24208	0.319416284561	0.13333	T	0.027369	0.20056	T	-0.635011	0.00089	T	-0.673894	0.07361	T	0.00140506157011114	0.00014	T	0.254275	0.03911	T	0.055457324	0.10781	0.056422874	0.10077	0.055457324	0.10781	0.056422874	0.10077	-0.917	0.00912	T	.	.	0.064	0.01786	B	.	.	-1.236807	0.00495	0.011	0.30912812002700618	0.01715	0.00142	0.00866	N	AEFBIJ	0.024307	0.01484	N	-1.7405695653379	0.00708	0.03054239	-1.79769488077882	0.00767	0.03418783	0.986231812286393	0.31028	0.569682	0.32691	0	0.657636	0.61667	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.57	-6.0	0.02021	-1.085000	0.03500	-1.087000	0.06371	-0.311000	0.06080	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.215:0.2778:0.5073	5.559	0.16415	819	0.41190	.	.	.	.	.	rs140947594	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1434.98	41	chr17	3761067	.	T	C	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.297;DP=830;ExcessHet=0.0000;FS=3.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-1.460e-01;SOR=1.063	GT:AD:DP:GQ:PL	0/1:53,59:112:99:1449,0,1202	20	0	1	0
chr17	4639499	4639499	C	G	exonic	ALOX15	.	nonsynonymous SNV	ALOX15:NM_001140:exon2:c.G268C:p.D90H,	.	.	422	1070	28	2	0	32	0.014733	.	.	729767	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.587	P	0.537	P	0.035	U	1.000	N	1.7	L	-0.09	T	-0.940	T	0.200	T	0.307	2.131	13.08	0.222	-0.184	0.743	1.576	0.179	.	0.0053	0.00439297	0.0061	0.0005	0.0046	0.0002	0.0029	0.0088	0.0045	0.0047	0.0056985	881	154602	rs11568142	0.0063	0.0063	0.0063	0.0063	0.0118	0.0062	0.0062	0.0095	0.0087	0.0012	0.0054	0.0082	2.519e-05	0.0024	0.0118	0.0069	0.0073	0.0055	0.0048	0.0048	0.0051	0.0044	0.0082	0.0045	0.0044	0.0070	0.0066	0.0013	0	0.0082	0.0066	0.0002	0.0012	0.0102	0.0070	0.0047	0.0050	0.022	0.48642	D	0.067	0.44302	T	0.411	0.35101	B	0.537	0.48765	P	0.035034	0.01796	U	192.728000	0.999997	0.08975	N	2.61	0.76335	M	-0.09	0.71307	T	-2.08	0.47514	N	0.251	0.33030	-0.9398	0.42648	T	0.200	0.55569	T	10	0.0054157674	0.00119	T	.	.	.	0.179	0.44899	.	.	0.629801484396	0.62677	0.38774283738889836	0.38689	0.556277365076	0.52292	0.429384231567	0.29124	T	0.329766	0.70003	T	-0.384004	0.02939	T	-0.318681	0.42720	T	0.0358540423604112	0.02955	T	0.379462	0.09138	T	0.16593549	0.36898	0.10653717	0.25632	0.16593549	0.36897	0.10653717	0.25632	-3.081	0.14869	T	.	.	0.108	0.24967	B	.;.;.;.	.;.;.;.	2.306056	0.29514	18.15	0.9841642061978535	0.41234	0.19576	0.20714	N	ALL	0.193755	0.32087	N	-0.601710364320981	0.18893	0.984552	-0.739579658472193	0.15978	0.8430701	0.999983975915351	0.51787	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	4.81	0.222	0.14563	0.193000	0.16921	-0.607000	0.08241	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1737:0.4755:0.1573:0.1934	1.576	0.02466	769	0.49307	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 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	0.02381	1214.98	39	chr17	4639499	.	C	G	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.028;SOR=0.690	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1229,0,1115	20	0	1	0
chr17	4817149	4817149	A	G	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon17:c.A1705G:p.T569A	.	.	419	1085	18	0	0	18	0.00822669	.	.	755916	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.013	B	0.026	B	0.000	D	0.692	N	1.875	L	1.98	T	-1.054	T	0.050	T	0.179	1.568	11.20	4.48	1.880	2.469	11.750	0.068	0.00592412599397	0.0007	0.00199681	0.0019	0.0005	0.0007	0	0.0041	0.0012	0.0033	0.0067	0.0017788	275	154602	rs137971062	0.0016	0.0017	0.0015	0.0018	0.0090	0.0016	0.0016	0.0071	0.0064	0.0001	0.0007	0.0035	0	0.0051	0.0090	0.0011	0.0027	0.0060	0.0014	0.0014	0.0013	0.0015	0.0060	0.0013	0.0012	0.0043	0.0037	0.0002	0	0.0016	0.0040	0	0.0049	0.0034	0.0012	0.0019	0.0060	0.444	0.09155	T	0.619	0.09555	T	0.001	0.07471	B	0.003	0.08700	B	0.000298	0.46274	D	0.223486	0.692358	0.30179	N	0.895	0.22405	L	1.98	0.31205	T	-0.52	0.16187	N	0.188	0.20528	-1.0537	0.13386	T	0.050	0.21339	T	10	0.008443952	0.00191	T	0.005924	0.15430	T	0.068	0.19811	.	.	0.465294738428	0.46155	0.3430681418602734	0.34219	0.135075783952	0.15223	0.470530569553	0.34753	T	0.047517	0.27747	T	-0.54391	0.00317	T	-0.551593	0.17174	T	0.0108779694914474	0.00155	T	0.69563	0.30512	T	0.13185768	0.30721	0.072045706	0.15499	0.13185768	0.30721	0.072045706	0.15498	-5.461	0.41502	T	.	.	0.067	0.04558	B	.;.;.	.;.;.	2.943240	0.39137	20.9	0.95190821469706288	0.26372	0.82474	0.41696	D	AEFBI	0.279556	0.39358	N	-0.175559590233012	0.34153	1.946061	-0.0383187549246351	0.37999	2.232655	4.46765553341721E-4	0.07004	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	2.128000	0.41668	11.229000	0.90032	0.756000	0.94297	0.979000	0.35152	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.750	0.51108	447	0.79583	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4411.11	36	chr17	4817149	.	A	G	4411.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=1061;ExcessHet=0.1072;FS=12.164;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.90;SOR=0.920	GT:AD:DP:GQ:PL	0/1:85,71:156:99:1775,0,2130	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,0,115:116:99:.:.:4036,4039,4074,335,371,0	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,115,0:116:99:.:.:4036,335,0,4039,371,4074	0	10	6	1
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,44,0:128:99:.:.:371,0,1983,550,2285,3677	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,44,0:128:99:.:.:371,0,1983,550,2285,3677	6	0	10	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.994	D	3.515	H	2.96	T	-0.982	T	0.107	T	0.857	4.089	21.0	2.8	0.492	1.521	8.074	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	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	0.1944	1543.06	69	chr17	6800776	.	C	G,T	1543.06	.	AC=4,3;AF=0.111,0.083;AN=36;BaseQRankSum=-3.449e+00;DP=2429;ExcessHet=2.5830;FS=177.172;InbreedingCoeff=-0.2591;MLEAC=4,3;MLEAF=0.111,0.083;MQ=60.00;MQRankSum=0.00;QD=1.70;ReadPosRankSum=0.492;SOR=11.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,22,0:121:99:.:.:371,0,1983,550,2285,3677	11	0	4	3
chr17	7224973	7224973	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon19:c.G1778A:p.R593Q	VLCAD deficiency, Autosomal recessive	YES	0	1484	36	2	0	40	0.0132979	.	.	192609	not_specified|not_provided|Very_long_chain_acyl-CoA_dehydrogenase_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.035	B	0.002	B	0.276	N	0.995	N	0.69	N	-1.15	T	-0.931	T	0.224	T	0.659	1.518	11.03	0.885	0.335	-0.016	8.384	0.397	0.0257525359531	0.0025	0.000798722	0.0028	0.0007	0.0006	0	0.0002	0.0044	0.0022	0.0020	0.002749	425	154602	rs148584617	0.0029	0.0029	0.0029	0.0030	0.0133	0.0028	0.0028	0.0109	0.0101	0.0013	0.0016	0.0116	0	0.0003	0.0133	0.0030	0.0031	0.0022	0.0024	0.0024	0.0024	0.0025	0.0040	0.0022	0.0022	0.0032	0.0029	0.0010	0	0.0040	0.0095	0	0.0003	0.0102	0.0031	0.0057	0.0017	0.49	0.07994	T	0.479	0.11933	T	0.033	0.20350	B	0.001	0.04355	B	0.276169	0.15032	N	0.641728	0.994622	0.23478	N	0.51	0.13489	N	-1.15	0.77964	T	-0.63	0.18459	N	0.656	0.66615	-0.9310	0.43992	T	0.224	0.58805	T	10	0.0066580176	0.00151	T	0.025753	0.48703	D	0.397	0.71163	.	.	0.628003037427	0.62497	0.5823363402754311	0.58162	0.224652461298	0.24998	0.2488938272	0.03652	T	0.136801	0.46939	T	-0.26384	0.12454	T	-0.153237	0.58956	T	0.00398743488164421	0.00042	T	0.822218	0.48193	T	0.11340508	0.26784	0.06592314	0.13431	0.13194865	0.30739	0.053821955	0.09139	-4.889	0.35611	T	0.1058887368373588	0.08449	0.065	0.04975	B	.;.;.	.;.;.	1.509091	0.19389	14.24	0.89813027631458398	0.19124	0.18951	0.20468	N	AEFDBHCI	0.475267	0.51918	N	-0.670574158382941	0.16863	0.862907	-0.582289400952017	0.19955	1.072971	0.999998862530056	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.74	0.885	0.18323	0.045000	0.13898	0.179000	0.15609	0.676000	0.76740	0.053000	0.21524	0.006000	0.19429	0.896000	0.43308	0.4535:0.0:0.5465:0.0	8.384	0.31651	366	0.84579	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1922.11	39	chr17	7224973	.	G	A	1922.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.677;DP=904;ExcessHet=0.1072;FS=13.536;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.995;SOR=0.927	GT:AD:DP:GQ:PL	0/1:45,40:85:99:974,0,1089	19	0	2	0
chr17	7230349	7230349	G	T	exonic	DVL2	.	nonsynonymous SNV	DVL2:NM_004422:exon3:c.C346A:p.P116T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.97	D	0.683	P	0.000	D	1.000	D	1.245	L	3.82	T	-0.956	T	0.015	T	0.487	1.030	9.207	4.4	1.256	4.271	12.110	0.104	0.00452004895895	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1028425741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	0.642	0.08161	T	0.865	0.47557	P	0.497	0.47562	P	0.000050	0.53742	D	0.127086	0.999928	0.51308	D	0.55	0.14455	N	3.82	0.04645	T	-0.6	0.17834	N	0.563	0.58713	-0.9561	0.39898	T	0.015	0.06090	T	10	0.18680638	0.34162	T	0.00452	0.11125	T	0.104	0.29647	0.294	0.25720	0.559541123154	0.55614	0.583361015407777	0.58265	0.250923755885	0.27671	0.543095946312	0.44884	T	0.309716	0.68172	T	-0.141644	0.29628	T	-0.441238	0.28670	T	0.469624727964401	0.31517	T	0.876412	0.62654	D	0.04103257	0.05968	0.047175758	0.06737	0.04103257	0.05967	0.047175758	0.06736	-5.94	0.45775	T	.	.	0.077	0.08272	B	.;.;.;.	.;.;.;.	3.684023	0.52454	23.2	0.83183513871834802	0.14587	0.98749	0.86360	D	AEFGBI	0.730739	0.67804	D	-0.136846650525232	0.35796	2.060695	-0.0615108978972578	0.36996	2.160305	0.999999681722002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.38	4.4	0.52402	5.928000	0.69808	9.905000	0.82381	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.729000	0.35066	0.0:0.173:0.827:0.0	12.110	0.53135	367	0.84523	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	694.98	39	chr17	7230349	.	G	T	694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-6.170e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:39,28:67:99:709,0,1010	20	0	1	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,54,0,0,0,0:54:99:2371,161,0,2373,162,2374,2373,162,2374,2374,2373,162,2374,2374,2374,2373,162,2374,2374,2374,2374	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,54,0,0,0,0:54:99:2371,161,0,2373,162,2374,2373,162,2374,2374,2373,162,2374,2374,2374,2373,162,2374,2374,2374,2374	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,54,0,0,0,0:54:99:2371,161,0,2373,162,2374,2373,162,2374,2374,2373,162,2374,2374,2374,2373,162,2374,2374,2374,2374	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,54,0,0,0,0:54:99:2371,161,0,2373,162,2374,2373,162,2374,2374,2373,162,2374,2374,2374,2373,162,2374,2374,2374,2374	0	14	0	0
chr17	8118294	8118294	C	A	exonic	ALOXE3	.	nonsynonymous SNV	ALOXE3:NM_001165960:exon2:c.G93T:p.Q31H,	Ichthyosis, congenital, autosomal recessive 3, Autosomal recessive	.	0	1506	16	0	0	16	0.00528402	.	.	347771	not_provided|not_specified|Autosomal_recessive_congenital_ichthyosis_3	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011680,MedGen:C3539888,OMIM:606545	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.001	B	0.633	N	1.000	N	0	N	-0.87	T	-0.949	T	0.127	T	0.102	0.048	4.262	1.9	0.587	0.694	5.149	0.153	0.0207653597211	.	0.00279553	0.0068	0.0006	0	0	0.0030	0.0076	0.0043	0.0090	0.002238	346	154602	rs79377087	0.0088	0.0085	0.0089	0.0087	0.0101	0.0087	0.0086	0.0099	0.0098	0.0012	0.0021	0.0002	0	0.0057	0.0049	0.0101	0.0075	0.0080	0.0056	0.0056	0.0059	0.0053	0.0096	0.0053	0.0052	0.0090	0.0087	0.0016	0	0.0020	0.0006	0	0.0051	0	0.0096	0.0043	0.0089	0.025	0.47320	D	0.0	0.92824	D	.	.	.	.	.	.	0.633267	0.10667	N	0.765889	1	0.19072	N	.	.	.	-0.9	0.74896	T	-0.14	0.09796	N	0.139	0.18239	-0.9491	0.41126	T	0.127	0.43298	T	10	0.004037291	0.00078	T	0.020765	0.43429	T	0.153	0.40148	0.103	0.01643	0.259272394797	0.25527	0.14794485350690273	0.14716	0.24617174184	0.27154	0.219298377633	0.01270	T	.	.	.	-0.493104	0.00625	T	-0.468762	0.25651	T	0.00469923930955501	0.00050	T	0.410759	0.10626	T	.	.	.	.	.	.	.	.	-4.087	0.25098	T	.	.	0.171	0.37633	B	.;.	.;.	0.832682	0.12043	8.597	0.9311850682671261	0.22753	0.03678	0.08945	N	ALL	0.056338	0.10408	N	-0.942965969529273	0.09851	0.4680903	-0.949372981854357	0.10937	0.5541349	0.9999999944203	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.94	1.9	0.24770	0.384000	0.20396	0.397000	0.17956	0.599000	0.40250	0.000000	0.06391	0.012000	0.20211	0.010000	0.09038	0.0:0.672:0.2136:0.1144	5.149	0.14331	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	1	0	0.02381	1786.98	34	chr17	8118294	.	C	A	1786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.630e-01;DP=857;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.77;ReadPosRankSum=-1.699e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/1:55,66:121:99:1801,0,1417	20	0	1	0
chr17	10327951	10327951	C	T	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon22:c.G2606A:p.R869Q,	.	.	127	1382	12	1	0	14	0.0050396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.022	B	0.03	B	.	.	0.974	N	1.29	L	-1.65	D	-0.697	T	0.273	T	0.197	1.793	11.95	0.889	0.461	0.987	2.843	0.169	0.0574727187861	0.0004	0.00159744	0.0010	0.0003	0.0013	0	0	0.0012	0.0022	0.0018	0.0009767	151	154602	rs147387198	0.0009	0.0009	0.0009	0.0010	0.0068	0.0009	0.0009	0.0051	0.0045	0.0013	0.0012	0.0049	0	5.616e-05	0.0068	0.0007	0.0017	0.0022	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0012	0.0011	0.0003	0	0.0018	0.0029	0	0	0.0068	0.0013	0.0014	0.0019	0.021	0.49117	D	0.094	0.39645	T	0.022	0.18677	B	0.03	0.21741	B	.	.	.	.	0.973663	0.25534	N	0.345	0.11182	N	-1.65	0.82625	D	-0.73	0.20576	N	0.284	0.32148	-0.6967	0.60596	T	0.273	0.64484	T	9	0.00802055	0.00182	T	0.057473	0.66978	D	0.169	0.43123	.	.	0.59199265086	0.58876	0.7044643600532807	0.70388	0.121233005232	0.13654	0.311947196722	0.12201	T	0.140344	0.47483	T	-0.392155	0.02606	T	-0.343343	0.39966	T	0.0225377293476586	0.00969	T	0.933407	0.75038	D	0.09636679	0.22696	0.07225935	0.15567	0.09636679	0.22696	0.07225935	0.15567	-5.717	0.43845	T	.	.	0.093	0.13830	B	.;.;.	.;.;.	2.612686	0.33937	19.49	0.99791130782969417	0.87661	0.48747	0.28277	N	AEFGBHCI	0.103981	0.20818	N	-0.52756163477558	0.21192	1.122902	-0.499469386746867	0.22169	1.202779	1.33612256531026E-5	0.02871	0.525926	0.21836	0	0.600433	0.49495	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	4.01	0.889	0.18346	0.787000	0.26519	-2.479000	0.03704	0.596000	0.33519	0.327000	0.25564	0.000000	0.08366	0.563000	0.30483	0.0:0.3634:0.2358:0.4008	2.843	0.05196	86	0.96395	Myosin tail;Myosin tail;Myosin tail	.	.	.	.	.	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	0.02381	1153.98	36	chr17	10327951	.	C	T	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=1.94;SOR=0.741	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1168,0,1169	20	0	1	0
chr17	10399648	10399648	G	A	exonic	MYH8	.	nonsynonymous SNV	MYH8:NM_002472:exon28:c.C3757T:p.R1253C,	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	1	1502	18	1	0	20	0.00661376	.	.	135122	not_specified|not_provided|Hecht_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.971	D	0.001	U	1.000	D	3.585	H	-1.25	T	0.070	D	0.358	T	0.254	3.217	16.78	4.4	1.481	1.720	11.208	0.653	.	0.0044	0.0061901	0.0023	0.0149	0.0022	0	0	0.0010	0.0033	0.0016	0.0021216	328	154602	rs34953692	0.0011	0.0011	0.0011	0.0012	0.0140	0.0011	0.0011	0.0130	0.0126	0.0140	0.0020	0.0047	0	5.617e-05	0.0066	0.0005	0.0022	0.0024	0.0045	0.0045	0.0049	0.0040	0.0130	0.0042	0.0041	0.0121	0.0117	0.0130	0	0.0027	0.0023	0	9.439e-05	0.0102	0.0010	0.0052	0.0015	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.971	0.72444	D	0.000888	0.41231	U	0.000000	0.999992	0.58761	D	3.96	0.96509	H	-1.25	0.79072	T	-5.29	0.84315	D	0.779	0.77601	0.070	0.83609	D	0.358	0.72030	T	10	0.018030345	0.00389	T	.	.	.	0.653	0.86936	.	.	0.882188867902	0.88103	0.4019354996143697	0.40109	0.306107796148	0.32911	0.474874794483	0.35352	T	0.626373	0.88361	D	-0.301904	0.08481	T	-0.195409	0.55082	T	0.0511946046299762	0.05708	T	0.945705	0.79334	D	0.38659176	0.59789	0.30534244	0.56561	0.38659176	0.59789	0.30534244	0.56561	-11.99	0.84803	D	0.8695657338060478	0.93066	0.159	0.35140	B	.	.	4.897138	0.80455	27.3	0.99931902908608616	0.99439	0.97935	0.78249	D	AEFBI	0.705947	0.66117	D	0.656265040946837	0.76777	6.549055	0.536456896305632	0.70463	5.508625	0.00167059773651133	0.08760	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.38	4.4	0.52402	1.908000	0.39537	6.527000	0.55847	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.1383:0.718:0.1438	11.208	0.48010	61	0.97388	Myosin tail	.	.	.	.	.	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	0.02381	756.98	35	chr17	10399648	.	G	A	756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-01;DP=751;ExcessHet=0.0000;FS=4.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=1.01;SOR=0.317	GT:AD:DP:GQ:PL	0/1:36,33:69:99:771,0,955	20	0	1	0
chr17	10445058	10445058	T	C	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon37:c.A5384G:p.K1795R,	.	.	3	1502	16	1	0	18	0.00595632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.746	P	0.558	P	0.001	U	1.000	D	1.925	M	-1.56	D	0.026	D	0.487	T	0.437	3.418	17.55	5.5	2.214	7.994	15.887	0.521	0.0171466064539	.	0.00119808	0.0008	0	0.0010	0	0	0.0009	0.0022	0.0016	0.0007374	114	154602	rs75173310	0.0007	0.0007	0.0006	0.0008	0.0050	0.0007	0.0006	0.0036	0.0031	0.0001	0.0009	0.0048	0	5.616e-05	0.0050	0.0005	0.0010	0.0023	0.0007	0.0007	0.0008	0.0006	0.0014	0.0006	0.0006	0.0010	0.0008	9.617e-05	0	0.0014	0.0023	0	0	0.0102	0.0009	0.0014	0.0012	0.085	0.32769	T	0.135	0.34124	T	0.746	0.43152	P	0.558	0.49494	P	0.001450	0.38980	U	0.000000	0.999957	0.52396	D	2.295	0.65404	M	-1.56	0.81815	D	-1.51	0.36787	N	0.645	0.65673	0.026	0.82768	D	0.487	0.80471	T	10	0.019298017	0.00429	T	0.017147	0.38730	T	0.521	0.79643	.	.	0.935059351078	0.93439	0.10215513108881813	0.10145	0.159160048467	0.17961	0.604561567307	0.53548	T	0.241037	0.60948	T	-0.240789	0.15248	T	-0.137668	0.60320	T	0.0966463444183236	0.11983	T	0.816118	0.47137	T	0.16478547	0.36709	0.253546	0.51004	0.16478547	0.36708	0.253546	0.51003	-8.226	0.62600	D	.	.	0.110	0.21277	B	.	.	4.251994	0.64550	24.7	0.99821890340927522	0.90502	0.98752	0.86398	D	AEFGI	0.939887	0.94108	D	0.42700006356707	0.62910	4.515149	0.440625954321186	0.64117	4.659655	0.999989807648296	0.51787	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	7.966000	0.87508	5.014000	0.46692	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.246000	0.23158	0.0:0.0:0.0:1.0	15.887	0.79038	83	0.96533	Myosin tail	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3810.98	38	chr17	10445058	.	T	C	3810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.489;DP=1994;ExcessHet=0.0000;FS=0.459;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=1.55;QD=15.12;ReadPosRankSum=-1.079e+00;SOR=0.727	GT:AD:DP:GQ:PL	0/1:115,137:252:99:3825,0,2926	20	0	1	0
chr17	11652926	11652926	A	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon14:c.A2519G:p.D840G,	.	.	423	1058	40	1	0	42	0.0194625	.	.	703955	DNAH9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.009	B	0.013	B	0.002	N	1.000	D	1.545	L	1.74	T	-1.110	T	0.066	T	0.297	1.743	11.79	5.27	2.128	6.789	15.490	0.171	.	0.0007	0.00499201	0.0044	0	0.0009	0.0003	0	0.0016	0.0044	0.0250	0.0038745	599	154602	rs151174418	0.0024	0.0024	0.0017	0.0032	0.0253	0.0023	0.0023	0.0244	0.0240	0.0002	0.0009	0.0045	0.0001	7.491e-05	0.0107	0.0008	0.0029	0.0253	0.0016	0.0016	0.0011	0.0021	0.0220	0.0014	0.0014	0.0186	0.0174	0.0004	0	0.0007	0.0037	0.0008	0	0.0034	0.0013	0.0024	0.0220	0.126	0.30800	T	.	.	.	0.009	0.15093	B	0.013	0.16460	B	0.002019	0.37457	N	0.254991	0.998855	0.45564	D	2.595	0.75868	M	1.74	0.27032	T	-5.07	0.84525	D	0.22	0.25745	-1.1097	0.03096	T	0.066	0.27295	T	10	0.008436203	0.00191	T	.	.	.	0.171	0.43483	.	.	0.530211221528	0.52669	0.2892117330425478	0.28834	0.117963832202	0.13280	0.300941646099	0.10541	T	0.108742	0.42204	T	-0.477116	0.00769	T	-0.438523	0.28973	T	0.0659140126238598	0.08065	T	0.89681	0.63970	D	0.404369	0.61033	0.51796436	0.72150	0.40066916	0.60779	0.44214427	0.67475	-4.323	0.28498	T	.	.	0.076	0.05890	B	.;.	.;.	3.572971	0.50333	22.9	0.98423200686721557	0.41309	0.98241	0.80848	D	AEFI	0.840984	0.75822	D	-0.0545374639870098	0.39400	2.322869	0.0709501497038132	0.43096	2.618462	0.986046711633036	0.30994	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	6.753000	0.74699	9.394000	0.80599	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.514000	0.29336	1.0:0.0:0.0:0.0	15.490	0.75330	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1236.98	37	chr17	11652926	.	A	G	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.642;DP=856;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=1.32;SOR=0.828	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1251,0,1650	20	0	1	0
chr17	15636073	15636073	C	G	exonic	TRIM16	.	nonsynonymous SNV	TRIM16:NM_001348121:exon5:c.G422C:p.R141T	.	.	421	1096	5	0	0	5	0.00227583	.	.	2814976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.689	P	0.242	B	0.000	U	0.997	N	1.78	L	-0.01	T	-0.880	T	0.191	T	0.296	-0.001	4.007	0.777	0.115	0.200	5.914	0.040	.	.	.	0.0108	0.0018	0.0080	0.0391	0.0062	0.0072	0.0045	0.0219	0.0111124	1718	154602	rs142902437	0.0003	0.0026	0.0003	0.0003	0.0020	0.0003	0.0003	0.0017	0.0015	0.0003	0.0002	0.0002	0.0020	0.0007	0	0.0002	0.0003	0.0011	0.0017	0.0055	0.0018	0.0016	0.0072	0.0015	0.0014	0.0052	0.0046	0.0007	0	0.0014	0.0006	0.0072	0.0012	0	0.0019	0.0010	0.0045	0.068	0.35726	T	0.022	0.57587	D	0.007	0.14184	B	0.011	0.15521	B	0.000075	0.52346	U	0.127194	0.996586	0.22968	N	2.19	0.61577	M	0.31	0.66834	T	-2.74	0.58248	D	0.093	0.34336	-0.8797	0.49786	T	0.191	0.54345	T	10	0.0040765405	0.00080	T	.	.	.	0.054	0.15330	.	.	.	.	0.335178000122452	0.33430	0.40539797669	0.41440	0.333759605885	0.15501	T	0.075344	0.35154	T	-0.352267	0.04586	T	-0.380751	0.35634	T	0.0196647825029475	0.00669	T	0.568143	0.20320	T	0.09388597	0.22060	0.08176437	0.18607	0.09388597	0.22060	0.08176437	0.18607	-4.312	0.28344	T	.	.	0.327	0.55039	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.885814	0.12589	9.119	0.293871150753654	0.01556	0.11249	0.16508	N	AEFGBHI	0.122829	0.23815	N	-0.861289901193496	0.11774	0.5700241	-0.948779146322556	0.10951	0.554927	0.0665572100857383	0.15397	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.97	0.777	0.17682	0.263000	0.18247	0.692000	0.20773	-1.689000	0.00774	0.123000	0.23227	0.163000	0.23278	0.028000	0.12845	0.0:0.6544:0.1581:0.1875	5.914	0.18285	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	0.04762	503.11	115	chr17	15636073	.	C	G	503.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.762;DP=1081;ExcessHet=0.1072;FS=37.288;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.76;MQRankSum=-9.215e+00;QD=2.17;ReadPosRankSum=-9.320e-01;SOR=2.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,20:117:99:0|1:15636073_C_G:388,0,3977:15636073	19	0	2	0
chr17	15716803	15716803	A	C	exonic	ZNF286A	.	nonsynonymous SNV	ZNF286A:NM_001288644:exon4:c.A743C:p.D248A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.998	D	0.013	N	1.000	D	1.25	L	5.42	T	-0.834	T	0.007	T	0.443	2.812	15.36	3.04	1.854	1.900	4.77	0.188	0.00931694907148	.	.	2.486e-05	0	0	0.0001	0	0	0.0011	6.078e-05	3.84e-05	1	26028	rs757558470	1.232e-05	1.231e-05	8.169e-06	1.65e-05	0.0005	7.7e-06	6.35e-06	0.0001	7.55e-05	0	0	0	0.0001	0	0.0005	3.598e-06	4.969e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.006	0.70582	D	0.999	0.77913	D	0.998	0.88582	D	0.013307	0.28882	N	0.163918	0.786016	0.81001	D	2.12	0.58754	M	5.42	0.00999	T	-1.61	0.38734	N	0.216	0.25745	-0.8336	0.53068	T	0.007	0.02439	T	10	0.22449839	0.39255	T	0.009317	0.24459	T	0.188	0.46444	0.614	0.74768	0.427596317008	0.42374	0.32010885286649454	0.31923	2.5138884224	0.97710	0.670432925224	0.62899	T	0.01989	0.15761	T	-0.233107	0.16240	T	-0.40349	0.32978	T	0.761949956417084	0.43963	D	0.0449955	0.00318	T	0.12616219	0.29558	0.14115086	0.33622	0.12616219	0.29558	0.14115086	0.33621	-4.132	0.28079	T	.	.	0.191	0.40952	B	.;.;.;.	.;.;.;.	4.957676	0.81941	27.7	0.99478338544704203	0.66741	0.00188	0.01093	N	AEFGBHCI	.	.	.	0.398378472880898	0.61335	4.333093	0.352937513566917	0.58683	4.040	4.16604074518058E-4	0.06899	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.11	3.04	0.34171	2.068000	0.41097	2.947000	0.35694	0.684000	0.82519	0.980000	0.35271	0.961000	0.29326	0.999000	0.91618	0.7824:0.0:0.2175:0.0	4.77	0.12523	744	0.52588	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	.	.	.	.	.	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	0.02381	1610.98	36	chr17	15716803	.	A	C	1610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=840;ExcessHet=0.0000;FS=5.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.57;MQRankSum=-4.338e+00;QD=12.79;ReadPosRankSum=-3.320e-01;SOR=0.948	GT:AD:DP:GQ:PL	0/1:60,66:126:99:1625,0,1362	20	0	1	0
chr17	16353367	16353367	G	A	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C70T:p.P24S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.183	B	0.026	B	0.033	U	1.000	P	.	.	.	.	-1.046	T	0.000	T	0.145	2.002	12.65	-2.82	-0.106	0.154	4.975	0.008	0.0473102183953	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs188652843	9.05e-05	0.0001	0.0001	7.805e-05	0.0002	7.176e-05	6.504e-05	7.961e-05	7.142e-05	0	0	0	0.0002	0	0	0.0001	6.89e-05	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0002	0.0002	0.0001	0	9.468e-05	0	0.0007	0.0002	0.0048	0.0003	0	0.0004	0.1	0.30515	T	0.11	0.37310	T	0.183	0.29179	B	0.026	0.20792	B	0.032717	0.01758	U	4.590520	1	0.19486	P	.	.	.	.	.	.	-0.45	0.14782	N	0.056	0.02759	-1.0463	0.15447	T	0.000	0.00039	T	7	0.026022345	0.00779	T	0.04731	0.62860	D	0.008	0.00669	.	.	0.0762999501168	0.06990	0.0957632365875013	0.09508	1.08570259194	0.77278	0.746981322765	0.74001	T	.	.	.	-0.49707	0.00594	T	-0.568566	0.15581	T	0.0420423204390575	0.04063	T	0.413959	0.10802	T	.	.	.	.	.	.	.	.	-2.215	0.04113	T	.	.	0.078	0.06756	B	.	.	0.199478	0.05846	2.285	0.94322220439154192	0.24649	0.01275	0.04458	N	AEFDGBHCI	0.051645	0.09144	N	-1.375230376239	0.02871	0.1274351	-1.50295177857258	0.02321	0.1065813	0.999999999308499	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.66	-2.82	0.05442	-0.845000	0.04448	0.061000	0.14131	-0.974000	0.01926	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3488:0.1575:0.4937:0.0	4.975	0.13484	688	0.59122	.	.	.	.	.	rs188652843	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	225.79	21	chr17	16353367	.	G	A	225.79	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=258;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0561;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=18.82;ReadPosRankSum=-3.980e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:5,7:12:99:239,0,183	18	0	1	2
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	1/2:0,5,7:12:99:504,260,239,206,0,183	5	7	8	0
chr17	16705202	16705202	A	G	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_001382000:exon3:c.A467G:p.K156R	.	.	.	.	.	.	.	.	.	.	.	2216165	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.88	P	0.636	P	.	.	1.000	N	0.895	L	1.49	T	-1.046	T	0.053	T	0.206	1.149	9.678	-2.76	-0.463	-0.787	1.924	0.028	0.00122191999655	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs764713137	5.39e-05	3.786e-05	5.536e-05	5.259e-05	0.0008	3.976e-05	3.47e-05	0.0001	0.0001	0	0	5.205e-05	0.0003	0	0.0008	3.652e-05	8.721e-05	9.93e-05	3.96e-05	4.595e-05	3.871e-05	4.053e-05	0.0004	1.722e-05	1.134e-05	6.842e-05	2.863e-05	0	0	0	0	0.0004	0	0	4.422e-05	0	0.0002	0.1	0.30656	T	0.155	0.42794	T	0.88	0.48402	P	0.636	0.51948	P	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.46	0.14978	N	0.03	0.08925	-1.0456	0.15650	T	0.053	0.22539	T	9	0.04691589	0.03942	T	0.001222	0.01608	T	0.028	0.06331	0.175	0.08135	0.0138822411134	0.00435	0.00994212227009554	0.00956	.	.	0.468841671944	0.34520	T	0.00129	0.00775	T	-0.28377	0.10272	T	-0.645392	0.09280	T	0.0655009020928691	0.08005	T	0.561944	0.19701	T	0.027557202	0.01964	0.034148354	0.02431	0.027557202	0.01964	0.034148354	0.02431	-4.092	0.25172	T	.	.	0.115	0.23041	B	.;.;.;.	.;.;.;.	0.380608	0.07526	4.173	0.98120044583262345	0.38424	0.00067	0.00479	N	AEFI	0.022703	0.01168	N	-0.891251811961232	0.11050	0.5311885	-1.14227160204544	0.06907	0.3341081	3.44959255884503E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.72	-2.76	0.05547	-0.730000	0.05019	-0.602000	0.08265	0.471000	0.21939	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4182:0.0:0.3147:0.2671	1.924	0.03112	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	313.33	35	chr17	16705202	.	A	G	313.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.500e-01;DP=603;ExcessHet=0.0000;FS=1.412;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=29.67;MQRankSum=-1.121e+00;QD=10.11;ReadPosRankSum=0.358;SOR=0.901	GT:AD:DP:GQ:PL	0/1:17,14:31:99:327,0,452	19	0	1	1
chr17	18016615	18016615	A	G	exonic	DRC3	.	nonsynonymous SNV	DRC3:NM_031294:exon14:c.A1516G:p.I506V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.005	B	0.007	B	0.012	N	1.000	D	1.46	L	0.78	T	-1.063	T	0.098	T	0.08	1.866	12.20	0.932	-0.106	0.458	8.817	0.016	0.00445128449278	.	.	3.343e-05	0.0001	0	0.0002	0	0	0	6.198e-05	2.59e-05	4	154602	rs779699710	1.095e-05	1.094e-05	1.225e-05	9.627e-06	0.0004	6.48e-06	5.24e-06	0.0002	0.0002	2.987e-05	0	0	0.0004	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.20002	T	0.232	0.24987	T	0.005	0.12996	B	0.007	0.12992	B	0.012276	0.29231	N	0.389178	1	0.81001	D	.	.	.	0.78	0.49358	T	-0.58	0.17417	N	0.027	0.00618	-1.0631	0.10997	T	0.098	0.36651	T	10	0.03862357	0.02294	T	0.004451	0.10906	T	0.016	0.02506	0.243	0.17677	0.37097340754	0.36704	0.28981519354376445	0.28894	0.152986545687	0.17264	0.264645040035	0.05457	T	0.002177	0.01575	T	-0.493967	0.00618	T	-0.627316	0.10619	T	0.0181947283387486	0.00540	T	0.49655	0.15423	T	0.028988047	0.02321	0.04038089	0.04352	0.028988047	0.02321	0.04038089	0.04352	-2.354	0.04859	T	.	.	0.058	0.00670	B	.;.	.;.	0.191356	0.05775	2.217	0.93706227473107118	0.23621	0.28149	0.23474	N	AEFDBIJ	0.084488	0.17123	N	-0.496914409973532	0.22182	1.182612	-0.411148462186798	0.24669	1.352243	0.00342846914284515	0.10109	0.615465	0.37627	0	0.614415	0.52539	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.72	0.932	0.18591	0.543000	0.22945	-2.778000	0.03371	-0.040000	0.17491	0.639000	0.28076	0.000000	0.08366	0.966000	0.53164	0.6757:0.0:0.3243:0.0	8.817	0.34159	357	0.85079	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1569.98	35	chr17	18016615	.	A	G	1569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.017e+00;DP=858;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-3.260e-01;SOR=0.738	GT:AD:DP:GQ:PL	0/1:81,73:154:99:1584,0,2115	20	0	1	0
chr17	29631107	29631107	T	G	exonic	SSH2	.	nonsynonymous SNV	SSH2:NM_033389:exon15:c.A4006C:p.S1336R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.923	D	0.003	N	1.000	D	2.045	M	-0.44	T	-0.097	T	0.450	T	0.743	4.251	22.1	6.17	2.371	2.961	16.822	0.264	0.0554642873796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.993	0.68779	D	0.84	0.65830	P	0.002930	0.35704	N	0.323657	0.999993	0.58761	D	2.615	0.76484	M	-0.44	0.69777	T	-1.6	0.38540	N	0.234	0.44379	-0.0972	0.80162	T	0.450	0.78479	T	10	0.29223174	0.46800	T	0.055464	0.66244	D	0.264	0.57741	0.217	0.13788	0.611543997595	0.60841	0.5910832469223872	0.59038	0.486683330562	0.47520	0.609823822975	0.54291	T	0.099158	0.40370	T	0.171906	0.71299	D	0.00915459	0.70927	D	0.894837260246277	0.54629	D	0.90061	0.65471	D	0.311439	0.53911	0.43907362	0.67271	0.311439	0.53911	0.43907362	0.67272	-3.646	0.18524	T	.	.	0.838	0.83008	P	.;.;.	.;.;.	4.236966	0.64207	24.7	0.99842120041822624	0.92229	0.96903	0.71570	D	AEFBI	0.448698	0.50382	N	0.659498098672269	0.76986	6.588342	0.669306725804661	0.80053	7.214729	0.999999980403931	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	2.264000	0.42959	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.822	0.85699	83	0.96533	.;.;.	.	.	.	.	.	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	0.02381	1650.98	34	chr17	29631107	.	T	G	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.244e+00;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=2.75;SOR=0.725	GT:AD:DP:GQ:PL	0/1:73,70:143:99:1665,0,1954	20	0	1	0
chr17	32772809	32772809	T	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon5:c.A598G:p.S200G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.367	B	0.186	B	0.000	U	1.000	D	1.245	L	-0.67	T	-0.563	T	0.262	T	0.69	3.727	18.93	5.49	2.070	7.272	13.537	0.466	0.032246938522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.012	0.79402	D	0.238	0.30817	B	0.186	0.36104	B	0.000235	0.47286	U	0.000000	0.999956	0.52396	D	0.88	0.21560	L	-0.67	0.95458	T	-1.36	0.33798	N	0.868	0.86833	-0.5632	0.66282	T	0.262	0.63285	T	10	0.94663495	0.93990	D	0.032247	0.54125	D	0.466	0.76156	0.891	0.97367	0.918392079262	0.91757	0.6648944906029628	0.66426	0.298669409922	0.32248	0.602323949337	0.53232	T	0.463674	0.79953	T	0.292466	0.82359	D	0.18233	0.82130	D	0.773878216743469	0.44673	D	0.892511	0.80045	D	0.2297747	0.45720	0.18961799	0.42318	0.2297747	0.45720	0.18961799	0.42317	-7.313	0.56288	T	.	.	0.142	0.40666	B	.;.;.;.	.;.;.;.	4.253572	0.64587	24.7	0.99747483139176962	0.84002	0.96942	0.71786	D	ALL	0.878137	0.80321	D	0.232848962952929	0.52795	3.45168	0.377921116790731	0.60204	4.20566	0.999999998871527	0.74766	0.722319	0.85440	0	0.623229	0.53319	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.49	5.49	0.81022	7.209000	0.77424	7.870000	0.71911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.537	0.61111	940	0.13648	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	73.11	44	chr17	32772809	.	T	C	73.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.023e+00;DP=1046;ExcessHet=0.1072;FS=181.922;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.53;ReadPosRankSum=0.288;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,9:73:50:0|1:32772809_T_C:50,0,2292:32772809	19	0	2	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:40,52:92:99:487,0,399	0	0	21	0
chr17	38466897	38466897	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon7:c.C1214T:p.P405L,	.	.	.	.	.	.	.	.	.	.	.	3468168	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.73	T	0.002	B	0.001	B	.	.	1.000	N	0	N	2.68	T	-0.941	T	0.017	T	0.104	-0.428	2.009	1.28	0.402	0.160	4.973	0.022	0.00832096478708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410098330	4.864e-05	4.652e-05	4.094e-05	5.656e-05	0.0002	3.898e-05	3.567e-05	9.113e-05	6.506e-05	0	0.0002	0	0	0	0	4.727e-05	5.175e-05	8.835e-05	6.567e-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	.	.	.	0.112	0.37037	T	0.002	0.09854	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	.	.	.	.	.	.	0.134	0.13055	-0.9412	0.42426	T	0.017	0.06902	T	9	0.03828627	0.02237	T	0.008321	0.22029	T	.	.	0.231	0.15855	0.146414634003	0.14194	0.25991289324944716	0.25904	.	.	0.501628041267	0.39054	T	0.004627	0.04039	T	-0.483451	0.00706	T	-0.647507	0.09129	T	0.0146273691073044	0.00301	T	.	.	.	0.03941668	0.05437	0.06443517	0.12913	0.03941668	0.05436	0.06443517	0.12912	-4.737	0.34428	T	.	.	0.080	0.07937	B	.;.	.;.	1.497151	0.19252	14.17	0.69851121345638723	0.09105	0.13910	0.18119	N	AEFDBI	0.068337	0.13476	N	-1.13353639377066	0.06055	0.2777242	-1.10428447459337	0.07618	0.3712572	0.999950392462011	0.48110	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.83	1.28	0.20656	0.186000	0.16787	-0.356000	0.09709	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2299:0.5499:0.0:0.2202	4.973	0.13473	115	0.95340	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1120.98	44	chr17	38466897	.	C	T	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.917;DP=1065;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=1.03;SOR=0.676	GT:AD:DP:GQ:PL	0/1:33,45:78:99:1135,0,724	20	0	1	0
chr17	40864885	40864885	G	A	exonic	KRT12	.	nonsynonymous SNV	KRT12:NM_000223:exon3:c.C728T:p.T243I,	Meesmann corneal dystrophy, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	727160	KRT12-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	1.000	D	3.05	M	-1.04	T	0.530	D	0.717	D	0.874	4.708	26.1	5.96	2.832	4.590	20.422	0.670	0.0791385706541	0.0009	0.000199681	0.0013	0.0004	0.0008	0	0	0.0018	0.0011	0.0015	0.0013066	202	154602	rs61735165	0.0017	0.0017	0.0017	0.0017	0.0014	0.0016	0.0016	0.0014	0.0013	0.0003	0.0013	0.0213	0	1.872e-05	0.0009	0.0014	0.0028	0.0012	0.0014	0.0014	0.0014	0.0013	0.0018	0.0012	0.0011	0.0013	0.0011	0.0003	0.0011	0.0018	0.0199	0	0	0	0.0013	0.0009	0.0008	0.023	0.48186	D	0.017	0.60337	D	1.0	0.90584	D	0.997	0.86255	D	0.000097	0.51296	D	0.000000	0.999968	0.52935	D	3.18	0.88827	M	-1.04	0.76561	T	-5.12	0.83157	D	0.876	0.87373	0.530	0.90958	D	0.717	0.90272	D	10	0.014879942	0.00312	T	0.079139	0.73166	D	0.670	0.87771	.	.	0.961899691326	0.96149	0.9316431463365482	0.93143	0.692070688562	0.60640	0.498951762915	0.38682	T	0.865226	0.97042	D	0.00646232	0.52542	T	0.234085	0.84865	D	0.0878480784609267	0.10961	T	0.874313	0.58483	D	0.6470878	0.75209	0.60233337	0.76892	0.67569286	0.76739	0.5764901	0.75463	-10.712	0.78055	D	0.4475528240100881	0.53194	0.608	0.69226	P	.;.	.;.	3.875937	0.56301	23.7	0.99909954643115928	0.97949	0.96900	0.71553	D	AEFDBI	0.780026	0.71205	D	0.884337940314088	0.90972	10.65322	0.838274403189764	0.92312	11.35497	0.999999875032235	0.74766	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.773000	0.74802	8.516000	0.77406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.0:0.0:1.0:0.0	20.422	0.99051	99	0.95913	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1902.98	36	chr17	40864885	.	G	A	1902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.550e-01;DP=954;ExcessHet=0.0000;FS=2.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.556e+00;SOR=0.940	GT:AD:DP:GQ:PL	0/1:76,79:155:99:1917,0,1948	20	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:107,32,124:263:99:.:.:3896,3072,5808,0,1929,4358	10	0	10	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2306.36	255	chr17	41041297	.	G	*,C	2306.36	.	AC=1,9;AF=0.025,0.225;AN=40;BaseQRankSum=2.19;DP=3862;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3496;MLEAC=1,10;MLEAF=0.025,0.250;MQ=59.29;MQRankSum=-1.141e+01;QD=0.84;ReadPosRankSum=4.87;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,124,5:250:99:.:.:3884,0,4899,4071,4682,8855	10	0	1	1
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	2496.32	253	chr17	41041341	.	G	T,*	2496.32	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.535;DP=3198;ExcessHet=3.5521;FS=0.766;InbreedingCoeff=-0.2364;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.31;MQRankSum=-1.146e+01;QD=1.14;ReadPosRankSum=-1.843e+00;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:90,31,123:244:99:0|1:41041341_G_*:3964,2999,6508,0,2345,3656:41041341	13	0	7	0
chr17	41041366	41041366	A	0	exonic	KRTAP1-1	.	.	.	.	.	420	996	92	0	14	106	0.0441459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1230.28	61	chr17	41041366	.	A	T,*	1230.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-9.070e-01;DP=2214;ExcessHet=1.1607;FS=0.710;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=59.30;MQRankSum=-1.005e+01;QD=1.00;ReadPosRankSum=-4.637e+00;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:88,22,123:233:99:0|1:41041341_G_*:3996,3366,7021,0,2748,3334:41041341	16	0	4	0
chr17	41041386	41041386	A	0	exonic	KRTAP1-1	.	.	.	.	.	419	1075	14	0	14	28	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	92.06	61	chr17	41041386	.	A	*,G	92.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.36;DP=1369;ExcessHet=0.1072;FS=2.627;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.14;MQRankSum=-2.961e+00;QD=0.21;ReadPosRankSum=-3.285e+00;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,123,10:218:99:0|1:41041341_G_*:4008,0,3053,3852,2989,7418:41041341	19	0	1	0
chr17	41189992	41189992	C	-	exonic	KRTAP9-1	.	frameshift deletion	KRTAP9-1:NM_001190460:exon1:c.106delC:p.C37Vfs*146,	.	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001617	25	154602	rs781691722	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	8.964e-05	0.0001	3.826e-05	0	0	0.0017	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0002	0.0004	9.774e-05	8.284e-05	0.0002	0.0001	2.418e-05	0	0.0001	0	0	0	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3652.94	34	chr17	41189991	.	AC	A	3652.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.185e+00;DP=2449;ExcessHet=0.0000;FS=2.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.55;MQRankSum=-2.611e+00;QD=13.43;ReadPosRankSum=-5.910e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/1:147,125:272:99:3667,0,4417	20	0	1	0
chr17	41226817	41226817	A	G	exonic	KRTAP9-2	.	nonsynonymous SNV	KRTAP9-2:NM_031961:exon1:c.A163G:p.T55A,	.	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.057	B	0.014	B	.	.	1.000	N	0.325	N	5.02	T	-0.908	T	0.003	T	0.144	0.312	5.690	-4.25	-1.137	-0.824	0.293	0.019	0.00107116852984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs71371480	4.462e-06	6.164e-05	2.949e-06	6.002e-06	5.634e-05	1.61e-06	1.05e-06	9.33e-06	3.49e-06	0	0	0	5.634e-05	0	0	3.848e-06	0	0	8.37e-05	0.0040	8.167e-05	8.583e-05	0.0001	4.754e-05	3.715e-05	4.988e-05	3.582e-05	0.0001	0	6.923e-05	0	0	0	0	0.0001	0	0	0.239	0.17761	T	0.194	0.28120	T	0.057	0.22878	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	1.615	0.41426	L	4.93	0.01395	T	-2.18	0.49187	N	0.052	0.02366	-0.9083	0.47061	T	0.003	0.00800	T	9	0.069259465	0.09913	T	0.001071	0.01239	T	0.019	0.03383	0.272	0.22210	0.0806252709748	0.07271	0.06562531389351679	0.06501	1.12458278325	0.78412	0.193279489875	0.00288	T	0.016892	0.13877	T	-0.329445	0.06154	T	-0.711002	0.05244	T	0.0578466179088175	0.06824	T	0.00989901	0.00051	T	0.030785557	0.02802	0.043039963	0.05265	0.030785557	0.02801	0.043039963	0.05265	-2.973	0.09893	T	.	.	0.075	0.05491	B	.	.	-0.162279	0.03290	0.566	0.19617231370711175	0.00670	0.02148	0.06321	N	AEFBI	0.028638	0.02560	N	-1.71002807248366	0.00807	0.03487423	-1.80660392748605	0.00738	0.03290239	1.56655996843476E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-4.25	0.03508	-0.848000	0.04435	-20.000000	0.00162	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.272:0.1967:0.143:0.3883	0.293	0.00242	115	0.95340	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	186.8	280	chr17	41226817	.	A	G	186.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=2.96;DP=6613;ExcessHet=0.1072;FS=31.807;InbreedingCoeff=-0.0635;MLEAC=2;MLEAF=0.050;MQ=56.57;MQRankSum=-9.891e+00;QD=0.25;ReadPosRankSum=-5.323e+00;SOR=4.220	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:325,32:357:99:.:.:175,0,13404	18	0	2	1
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,48,0:48:99:2041,139,0,2046,144,2051	6	11	3	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.976	D	0.556	P	.	.	0.999	D	0	N	.	.	-1.043	T	0.078	T	0.65	0.858	8.471	5.17	2.241	1.916	5.942	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	515.5	33	chr17	41382308	.	A	G	515.5	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.707e+00;DP=1692;ExcessHet=2.5830;FS=114.231;InbreedingCoeff=-0.1984;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=0.774;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,18:122:50:0|1:41382308_A_G:50,0,3944:41382308	14	0	7	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.049	B	0.026	B	.	.	0.998	N	0	N	.	.	-1.026	T	0.039	T	0.473	0.716	7.813	-0.174	0.122	-0.215	4.436	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:105,0,18:123:47:0|1:41382308_A_G:47,362,4394,0,4031,3979:41382308	14	0	5	0
chr17	41382311	41382311	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62A:p.R21K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.031	T	0.039	T	0.176	1.278	10.17	-0.174	0.122	-0.215	4.436	0.072	0.00559261676492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999663	0.20745	N	1.1	0.28011	L	-1.55	0.81727	D	.	.	.	0.199	0.21969	-1.0308	0.20195	T	0.039	0.16935	T	8	0.08334431	0.13855	T	0.005593	0.14439	T	.	.	0.293	0.25560	0.657325010897	0.65446	0.07906609140832596	0.07841	0.0402348126993	0.04305	0.306056171656	0.11311	T	0.021002	0.16432	T	-0.119232	0.33249	T	-0.409045	0.32335	T	0.0497427848752955	0.05455	T	0.382662	0.09313	T	0.069265865	0.15160	0.074363045	0.16259	0.069265865	0.15160	0.074363045	0.16259	-2.912	0.09264	T	.	.	0.091	0.13080	B	.	.	1.087164	0.14705	11.26	0.93968684478021924	0.24041	0.45317	0.27512	N	AEFDBCI	0.063292	0.12223	N	-0.668850020287515	0.16912	0.8658866	-0.557939429380533	0.20595	1.110326	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:105,0,18:123:47:0|1:41382308_A_G:47,362,4394,0,4031,3979:41382308	14	0	5	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.682	P	0.142	B	.	.	0.996	N	0	N	.	.	-1.079	T	0.031	T	0.258	1.036	9.231	4.2	1.489	1.219	9.384	0.057	0.0112921981246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.07059	T	0.682	0.41464	P	0.142	0.33681	B	.	.	.	.	0.995951	0.23155	N	1.1	0.28011	L	-1.61	0.82254	D	.	.	.	0.319	0.35938	-1.0787	0.07602	T	0.031	0.13330	T	8	0.1758697	0.32541	T	0.011292	0.28764	T	.	.	0.215	0.13498	0.749038299637	0.74677	0.027389334383383892	0.02688	0.0406601577266	0.04362	0.292538791895	0.09292	T	0.021114	0.16497	T	-0.035849	0.46564	T	-0.289271	0.45849	T	0.188235579082126	0.19740	T	0.391661	0.09743	T	0.077502705	0.17596	0.08187276	0.18640	0.077502705	0.17595	0.08187276	0.18640	-4.176	0.26403	T	.	.	0.107	0.19919	B	.	.	1.323781	0.17281	13.07	0.98311074385310038	0.40144	0.83088	0.42236	D	AEFDBCI	0.178885	0.30617	N	-0.267547482617439	0.30410	1.695319	-0.155453402914047	0.33199	1.896604	0.828972100147742	0.24658	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	4.2	0.48814	1.950000	0.39948	0.265000	0.16590	0.596000	0.33519	0.898000	0.31380	0.000000	0.08366	0.407000	0.26939	0.0:0.8322:0.0:0.1678	9.384	0.37494	167	0.93508	.	.	.	.	.	.	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	0.119	263.85	46	chr17	41382313	.	C	G,T	263.85	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-5.135e+00;DP=1402;ExcessHet=1.1607;FS=111.246;InbreedingCoeff=-0.1348;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.938;SOR=9.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:104,0,18:122:50:0|1:41382308_A_G:50,362,4354,0,3991,3939:41382308	16	0	3	0
chr17	41487406	41487406	T	A	exonic	KRT36	.	nonsynonymous SNV	KRT36:NM_003771:exon5:c.A932T:p.E311V,	.	.	411	1064	45	2	0	49	0.022508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.999	D	3.875	H	-2.83	D	1.054	D	0.904	D	0.952	4.810	27.2	5.95	2.274	4.643	16.407	0.826	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs139865124	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0015	0.0038	2.519e-05	3.747e-05	0.0346	0.0006	0.0028	0.0115	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000097	0.51296	D	0.000000	0.999452	0.47118	D	3.995	0.96723	H	-2.83	0.91249	D	-6.56	0.91868	D	0.43	0.46928	1.054	0.98202	D	0.904	0.96822	D	10	0.012003839	0.00260	T	.	.	.	0.826	0.94466	.	.	0.922751822367	0.92196	0.5184686235104664	0.51769	0.841499628606	0.68094	0.47562456131	0.35455	T	0.584972	0.86467	D	0.123324	0.66705	D	0.413765	0.92547	D	0.155424858219359	0.17527	T	0.817618	0.47476	T	0.8597732	0.88068	0.89466405	0.94597	0.8597732	0.88069	0.89466405	0.94598	-11.675	0.83232	D	.	.	0.557	0.67081	A	.;.	.;.	4.570543	0.72107	25.8	0.99565129901665927	0.72014	0.94864	0.62595	D	AEFDGBCI	0.765615	0.70205	D	0.920670767402718	0.92734	11.59737	0.843328895874802	0.92620	11.53265	0.999899793254436	0.45129	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	3.203000	0.50777	7.780000	0.68649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:0.0:1.0	16.407	0.83516	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3888.98	38	chr17	41487406	.	T	A	3888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.369e+00;DP=1002;ExcessHet=0.0000;FS=6.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.74;ReadPosRankSum=0.839;SOR=0.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,100:197:99:0|1:41487406_T_A:3903,0,3762:41487406	20	0	1	0
chr17	41487407	41487407	C	A	exonic	KRT36	.	stopgain	KRT36:NM_003771:exon5:c.G931T:p.E311X,	.	.	411	1063	46	2	0	50	0.0229779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.965	36	5.95	2.819	7.253	20.378	.	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs145372311	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0016	0.0038	2.519e-05	3.748e-05	0.0346	0.0006	0.0028	0.0116	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	0.000097	0.51296	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.136	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237408	0.77415	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.308796	0.99688	46	0.9978149732722128	0.86780	0.97345	0.74163	D	AEFDGBCI	0.278041	0.39242	N	1.22290231108648	0.99733	25.95499	1.09354310977779	0.99756	26.34876	0.999999598163311	0.74766	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	5.814000	0.68884	7.566000	0.60594	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.938000	0.47775	0.0:1.0:0.0:0.0	20.378	0.98924	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3888.98	38	chr17	41487407	.	C	A	3888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=1000;ExcessHet=0.0000;FS=6.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.74;ReadPosRankSum=0.543;SOR=0.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,100:197:99:0|1:41487406_T_A:3903,0,3762:41487406	20	0	1	0
chr17	41586747	41586747	G	A	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon1:c.C88T:p.R30C,	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant	.	5	1478	36	3	0	42	0.0140093	.	.	77278	not_provided|Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive	MedGen:C3661900|MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.32	T	0.071	B	0.007	B	0.000	D	1.000	D	1.15	L	-1.82	D	-0.609	T	0.305	T	0.411	2.496	14.30	3.92	1.186	1.269	8.172	0.336	0.0919003087165	0.0024	0.00419329	0.0051	0.0053	0.0034	0	0	0.0036	0.0062	0.0097	0.0018693	289	154602	rs201069984	0.0017	0.0017	0.0014	0.0020	0.0088	0.0016	0.0016	0.0083	0.0081	0.0049	0.0011	0.0129	0	1.979e-05	0.0083	0.0008	0.0031	0.0088	0.0025	0.0025	0.0024	0.0026	0.0081	0.0023	0.0022	0.0061	0.0054	0.0045	0	0.0027	0.0130	0	0	0.0034	0.0009	0.0028	0.0081	0.018	0.50676	D	0.022	0.57587	D	0.071	0.23930	B	0.007	0.12992	B	0.000054	0.53742	D	0.000000	0.999982	0.54805	D	2.825	0.82220	M	-1.82	0.84047	D	-3.73	0.70920	D	0.421	0.46086	-0.6090	0.64445	T	0.305	0.67612	T	10	0.0058447123	0.00130	T	0.092	0.75792	D	0.336	0.65816	.	.	0.817770694489	0.81605	0.7382263232607672	0.73767	0.649699804287	0.58275	0.543735265732	0.44973	T	0.484992	0.81207	T	-0.27893	0.10781	T	-0.166901	0.57726	T	0.0432151501061718	0.04276	T	0.567543	0.20130	T	0.1657774	0.36872	0.15565942	0.36478	0.1657774	0.36871	0.15565942	0.36477	-8.884	0.66946	D	.	.	0.496	0.64398	A	.	.	3.935106	0.57545	23.9	0.99709200195213732	0.81213	0.69373	0.34162	D	AEFBHCI	0.292534	0.40338	N	-0.299626081532119	0.29163	1.614818	-0.160226345690621	0.33017	1.884281	0.99994031114558	0.47345	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.9	3.92	0.44525	1.082000	0.30415	7.262000	0.57963	0.665000	0.62972	0.744000	0.29069	1.000000	0.68203	0.985000	0.61073	0.0789:0.0:0.6666:0.2545	8.172	0.30421	276	0.89131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	794.98	50	chr17	41586747	.	G	A	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1173;ExcessHet=0.0000;FS=1.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.50;MQRankSum=1.08;QD=14.72;ReadPosRankSum=-5.110e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:26,28:54:99:809,0,656	20	0	1	0
chr17	41611714	41611714	G	A	exonic	KRT16	.	nonsynonymous SNV	KRT16:NM_005557:exon2:c.C539T:p.A180V,	Pachyonychia congenita 1, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, focal, Autosomal dominant	.	54	1435	32	1	0	34	0.011708	.	.	578544	not_provided|Palmoplantar_keratoderma,_epidermolytic|Pachyonychia_congenita_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200,Orphanet:2309	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.094	B	0.041	B	0.226	N	1.000	N	1.53	L	-2.49	D	-0.619	T	0.399	T	0.129	2.655	14.84	-7.8	-1.411	-0.817	3.341	0.205	0.0687793059663	0.0012	0.00279553	0.0027	0.0004	0.0023	0	0	0.0019	0.0031	0.0095	0.0019081	295	154602	rs142750223	0.0016	0.0016	0.0013	0.0018	0.0090	0.0015	0.0015	0.0083	0.0081	0.0004	0.0015	0.0142	5.045e-05	0	0.0090	0.0008	0.0030	0.0088	0.0013	0.0013	0.0012	0.0014	0.0079	0.0012	0.0011	0.0059	0.0052	0.0002	0	0.0028	0.0144	0	0	0.0034	0.0008	0.0024	0.0079	0.181	0.21884	T	0.268	0.22494	T	0.094	0.25382	B	0.041	0.23986	B	0.225726	0.03485	N	1.663140	1	0.08975	N	1.725	0.44537	L	-2.49	0.89145	D	-2.11	0.48020	N	0.198	0.21839	-0.6187	0.64042	T	0.399	0.75073	T	10	0.008734137	0.00198	T	0.068779	0.70547	D	0.205	0.49236	.	.	0.374434639691	0.37057	0.3959369747124973	0.39508	0.323931943734	0.34550	0.202822953463	0.00543	T	0.508012	0.82549	D	-0.43734	0.01341	T	-0.394587	0.34016	T	0.0059826243667112	0.00066	T	0.383762	0.09387	T	0.0683087	0.14871	0.086108975	0.19927	0.079132564	0.18061	0.09049994	0.21226	-5.985	0.46154	T	0.15927862210846774	0.19356	0.121	0.25199	B	.	.	1.341161	0.17474	13.19	0.91350593529182778	0.20613	0.17544	0.19883	N	AEFBI	0.242342	0.36381	N	-1.09294577632445	0.06772	0.3127196	-1.22782316927274	0.05467	0.2605757	0.98893701569782	0.31673	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.32	-7.8	0.01078	-0.566000	0.06013	-2.331000	0.03890	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.280000	0.24017	0.1743:0.4117:0.2341:0.1799	3.341	0.06703	309	0.87553	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	416.98	21	chr17	41611714	.	G	A	416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.050e-01;DP=589;ExcessHet=0.0000;FS=3.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.15;MQRankSum=0.279;QD=14.38;ReadPosRankSum=1.97;SOR=1.402	GT:AD:DP:GQ:PL	0/1:13,16:29:99:431,0,334	20	0	1	0
chr17	42713240	42713240	G	T	exonic	EZH1	.	nonsynonymous SNV	EZH1:NM_001321079:exon10:c.C1191A:p.D397E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.008	B	0.000	D	0.997	D	-1.375	N	-1.16	T	-0.874	T	0.116	T	0.649	0.890	8.616	4.37	1.423	2.246	10.655	0.342	0.0235486982884	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs757033020	1.368e-06	1.368e-06	0	2.751e-06	2.32e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	0.02052	T	0.778	0.04737	T	0.001	0.07471	B	0.002	0.08700	B	0.000000	0.84330	D	0.043959	0.996802	0.43428	D	0.925	0.23481	L	-1.16	0.78082	T	-0.06	0.07882	N	0.342	0.38335	-0.8739	0.50234	T	0.116	0.40986	T	10	0.06125486	0.07652	T	0.023549	0.46515	T	0.342	0.66392	0.279	0.23323	0.576639666579	0.57332	0.1320107888894082	0.13126	2.33439091465	0.96697	0.780615389347	0.79020	T	0.070372	0.33944	T	0.0107436	0.53126	T	-0.121714	0.61661	T	0.242389589548111	0.22529	T	0.682432	0.29103	T	0.07399599	0.16573	0.07955591	0.17921	0.07399599	0.16573	0.07955591	0.17920	-3.691	0.19185	T	.	.	0.234	0.53808	B	.;.;.;.;.	.;.;.;.;.	1.865729	0.23701	16.12	0.85623325830553321	0.16008	0.95434	0.64705	D	AEFBI	0.446599	0.50259	N	-0.625259546860102	0.18188	0.9422685	-0.329961435543282	0.27136	1.503664	0.0312175439037404	0.13989	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.674467	0.66132	0	.	.	5.36	4.37	0.51830	1.788000	0.38346	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1581:0.0:0.8419:0.0	10.655	0.44863	240	0.90628	.;.;.;.;.	.	.	.	.	.	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	0.02381	953.98	33	chr17	42713240	.	G	T	953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.147e+00;DP=762;ExcessHet=0.0000;FS=1.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.41;SOR=0.467	GT:AD:DP:GQ:PL	0/1:40,41:81:99:968,0,997	20	0	1	0
chr17	44914060	44914060	C	G	exonic	GFAP	.	nonsynonymous SNV	GFAP:NM_001131019:exon2:c.G490C:p.E164Q	Alexander disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.09	B	0.000	D	1.000	D	1.475	L	-2.52	D	0.074	D	0.607	D	0.397	3.537	18.05	4.65	2.667	4.513	15.760	0.469	0.0401070247325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.53172	D	0.032	0.66756	D	0.003	0.11197	B	0.09	0.29851	B	0.000006	0.62929	D	0.061993	0.999806	0.81001	D	2.225	0.63025	M	-2.52	0.89363	D	-2.38	0.52451	N	0.259	0.29313	0.074	0.83689	D	0.607	0.86043	D	10	0.47870228	0.60300	T	0.040107	0.59190	D	0.469	0.76355	0.442	0.49811	0.997287908332	0.99725	0.352658758475693	0.35179	0.425138627803	0.42928	0.36696600914	0.20395	T	0.731168	0.92477	D	0.0911596	0.63319	D	-0.106832	0.62862	T	0.964136123657227	0.66866	D	0.861714	0.59504	D	0.69755	0.77923	0.5580273	0.74433	0.69755	0.77924	0.5580273	0.74434	-8.793	0.66355	D	0.2746955537386417	0.36896	0.151	0.43599	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.367623	0.46524	22.3	0.99552632573546285	0.71273	0.96682	0.70378	D	AEFDBI	0.720336	0.67093	D	0.0744422105159435	0.45272	2.786582	0.239186271969454	0.52036	3.381346	0.999998651944251	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.67	4.65	0.57626	4.612000	0.60873	5.944000	0.51530	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.0:0.8634:0.1366:0.0	15.760	0.77842	749	0.51929	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	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	0.02381	1381.98	35	chr17	44914060	.	C	G	1381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=819;ExcessHet=0.0000;FS=6.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.665;SOR=0.527	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1396,0,1058	20	0	1	0
chr17	45030174	45030174	G	A	exonic	DCAKD	.	nonsynonymous SNV	DCAKD:NM_001128631:exon4:c.C322T:p.R108C	.	.	437	1075	8	2	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.64	P	0.236	B	0.000	D	1.000	D	2.575	M	0.92	T	-0.848	T	0.145	T	0.849	3.464	17.74	5.53	2.598	6.421	14.321	0.300	0.144303585302	0.0013	0.00139776	0.0017	0.0009	0.0007	0	0.0002	0.0012	0	0.0064	0.0016494	255	154602	rs144472327	0.0022	0.0022	0.0021	0.0024	0.0061	0.0022	0.0021	0.0057	0.0055	0.0003	0.0003	3.826e-05	0.0001	0.0002	0.0016	0.0023	0.0017	0.0061	0.0013	0.0013	0.0014	0.0012	0.0075	0.0012	0.0011	0.0055	0.0049	0.0007	0	0.0004	0.0003	0.0014	0.0004	0.0034	0.0017	0.0009	0.0075	0.011	0.72154	D	0.004	0.74150	D	0.64	0.40395	P	0.236	0.38470	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.835	0.48228	L	0.92	0.46412	T	-5.05	0.82700	D	0.853	0.84922	-0.8481	0.52099	T	0.145	0.46786	T	10	0.009757966	0.00219	T	0.144304	0.82657	D	0.300	0.62068	.	.	0.652187244737	0.64929	.	.	1.0403727168	0.75771	0.474705576897	0.35329	T	0.204902	0.56381	T	-0.148394	0.28564	T	0.0166779	0.71415	D	0.0604275424180223	0.07235	T	0.948405	0.81587	D	0.36094448	0.57908	0.30571213	0.56597	0.36094448	0.57908	0.30571213	0.56596	-9.199	0.68968	D	.	.	0.264	0.50699	B	.;.;.;.;.;.	.;.;.;.;.;.	4.910698	0.80791	27.4	0.99902560252113937	0.97426	0.86181	0.45413	D	ALL	0.846020	0.76291	D	0.479380700895231	0.65887	4.879376	0.541852941781104	0.70833	5.563587	0.999999995025998	0.74766	0.706548	0.73137	0	0.648423	0.57943	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	6.582000	0.73941	11.871000	0.98575	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.8517:0.1483	14.321	0.66041	618	0.66225	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2228.11	36	chr17	45030174	.	G	A	2228.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.379;DP=1066;ExcessHet=0.1072;FS=3.221;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.705;SOR=0.939	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1285,0,1086	19	0	2	0
chr17	45242070	45242070	-	CCG	exonic	FMNL1	.	nonframeshift insertion	FMNL1:NM_005892:exon15:c.1809_1810insCCG:p.P612_G613insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5739.79	40	chr17	45242067	.	TCCG	T,TCCGCCG	5739.79	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-3.300e-02;DP=925;ExcessHet=1.1607;FS=1.351;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=17.94;ReadPosRankSum=-7.100e-02;SOR=0.799	GT:AD:DP:GQ:PL	0/1:29,34,0:63:99:1336,0,1104,1423,1206,2629	16	0	3	0
chr17	49707012	49707012	G	C	exonic	SLC35B1	.	nonsynonymous SNV	SLC35B1:NM_005827:exon2:c.C161G:p.T54S,	.	.	431	1058	33	0	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.002	B	0.004	B	0.000	D	0.993	D	-0.245	N	1.55	T	-1.070	T	0.023	T	0.719	0.599	7.228	4.48	2.294	7.292	13.851	0.254	.	0.0062	0.00539137	0.0109	0.0018	0.0041	0.0001	0.0290	0.0117	0.0121	0.0165	0.0101422	1568	154602	rs142518431	0.0097	0.0098	0.0093	0.0101	0.0177	0.0096	0.0095	0.0169	0.0166	0.0011	0.0048	0.0199	5.038e-05	0.0252	0.0132	0.0089	0.0099	0.0177	0.0084	0.0084	0.0077	0.0092	0.0149	0.0080	0.0079	0.0121	0.0111	0.0017	0	0.0063	0.0225	0.0002	0.0246	0.0136	0.0100	0.0081	0.0149	0.603	0.05584	T	0.759	0.04652	T	0.0	0.02946	B	0.004	0.10090	B	0.000009	0.62929	D	0.109197	0.993073	0.41828	D	-0.44	0.02835	N	1.55	0.29866	T	0.42	0.03352	N	.	.	-1.0703	0.09348	T	0.023	0.09696	T	10	0.0074454844	0.00169	T	.	.	.	0.254	0.56428	0.478	0.55663	.	.	0.513224448334425	0.51244	0.253413253526	0.27906	0.680591702461	0.64353	T	0.01522	0.12811	T	-0.344412	0.05088	T	-0.254526	0.49370	T	0.0135447190752144	0.00249	T	0.829117	0.55914	T	0.13029192	0.30405	0.15126616	0.35639	0.13029192	0.30405	0.15126616	0.35638	-5.308	0.40022	T	.	.	0.136	0.40666	B	.;.;.;.;.	.;.;.;.;.	3.131060	0.42311	21.5	0.86187237248678539	0.16370	0.97835	0.77484	D	AEFB	0.932008	0.92170	D	-0.276935970065927	0.30041	1.671435	-0.031856219340626	0.38284	2.25339	0.999999996993668	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.48	4.48	0.53973	7.140000	0.76912	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1541:0.8459:0.0	13.851	0.62994	761	0.50382	.;.;.;.;.	.	.	XYLT2	Esophagus_Muscularis	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4208.11	33	chr17	49707012	.	G	C	4208.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=999;ExcessHet=0.1072;FS=1.271;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.415;SOR=0.639	GT:AD:DP:GQ:PL	0/1:93,91:184:99:2181,0,2245	19	0	2	0
chr17	50097448	50097448	-	GGGGG	exonic	PDK2	.	frameshift insertion	PDK2:NM_001199900:exon2:c.144_145insGGGGG:p.S49Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	37.34	94	chr17	50097448	.	C	CGGGGG	37.34	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-4.701e+00;DP=2347;ExcessHet=0.0000;FS=61.776;InbreedingCoeff=-0.1599;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=1.66;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:156,21:177:47:.:.:47,0,5932	11	0	1	9
chr17	50626256	50626256	C	A	exonic	CACNA1G	.	nonsynonymous SNV	CACNA1G:NM_198387:exon34:c.C6258A:p.S2086R	Spinocerebellar ataxia 42, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.999	D	0.991	D	0.015	N	1.000	D	1.445	L	-3.99	D	0.941	D	0.902	D	0.604	3.276	17.00	5.32	2.484	3.565	17.162	0.488	0.0640664370535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	4.085e-06	1.376e-06	8.994e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	8.994e-07	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.58626	D	0.531	0.12002	T	0.982	0.60036	D	0.823	0.59197	P	0.014898	0.28400	N	0.385981	0.861214	0.81001	D	1.7	0.43825	L	-4.09	0.96908	D	-1.02	0.27259	N	0.387	0.46368	0.941	0.96256	D	0.902	0.96735	D	10	0.25750923	0.43168	T	0.064066	0.69161	D	0.488	0.77592	0.164	0.06842	0.722720362632	0.72027	0.3028794021211745	0.30200	0.218148210531	0.24350	0.503377318382	0.39298	T	0.079621	0.36170	T	0.218732	0.75655	D	0.0764175	0.75339	D	0.816940009593964	0.47546	D	0.948005	0.84807	D	0.26318723	0.49383	0.26166698	0.51947	0.26318723	0.49383	0.26166698	0.51947	-3.475	0.16473	T	.	.	0.464	0.67748	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.847529	0.55711	23.6	0.99846362612898454	0.92576	0.58259	0.30594	D	ALL	0.771776	0.70630	D	0.319357741833973	0.57142	3.880569	0.383981483799169	0.60577	4.24679	1.0	0.98316	0.520426	0.21595	0	0.596394	0.48810	0	0.651303	0.49530	0	0.825845	0.99933	0	.	.	5.32	5.32	0.75377	4.697000	0.61467	4.887000	0.45725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	17.162	0.86685	851	0.35303	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1640.98	34	chr17	50626256	.	C	A	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.350;DP=947;ExcessHet=0.0000;FS=0.552;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=1.04;SOR=0.643	GT:AD:DP:GQ:PL	0/1:115,70:185:99:1655,0,2905	20	0	1	0
chr17	58621692	58621692	C	T	exonic	TEX14	.	nonsynonymous SNV	TEX14:NM_001201457:exon5:c.G512A:p.R171Q	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.083	B	0.016	B	0.019	N	0.999	N	0.975	L	-1.3	T	-0.826	T	0.283	T	0.109	1.571	11.21	4.46	1.426	0.185	5.138	0.180	0.0373892045702	.	.	1.651e-05	0	0	0	0	3.004e-05	0	0	3.88e-05	6	154602	rs754550862	3.626e-05	3.625e-05	4.22e-05	3.025e-05	0.0002	2.828e-05	2.565e-05	3.373e-05	3.038e-05	0	0	0	2.519e-05	0	0.0002	4.407e-05	1.656e-05	1.159e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.067	0.36113	T	0.259	0.23164	T	0.083	0.24734	B	0.016	0.17743	B	0.019246	0.27299	N	0.308600	0.999396	0.21260	N	2.52	0.73523	M	-1.37	0.80214	T	-1.96	0.45404	N	0.293	0.40364	-0.8260	0.53556	T	0.283	0.65527	T	10	0.19566026	0.35427	T	0.037389	0.57584	D	0.180	0.45073	0.462	0.53079	0.703799379039	0.70122	0.31919971671329583	0.31832	0.0600646549258	0.06680	0.236606776714	0.02493	T	0.091271	0.38760	T	-0.195428	0.21466	T	-0.410838	0.32128	T	0.123080186545849	0.14728	T	0.877812	0.59215	D	0.08897214	0.20774	0.07812065	0.17469	0.08897214	0.20774	0.07812065	0.17469	-4.221	0.27055	T	.	.	0.079	0.10691	B	.;.;.	.;.;.	1.549898	0.19867	14.48	0.99228385767075267	0.56151	0.34218	0.25015	N	AEFDBCI	0.083315	0.16879	N	-0.573285396068159	0.19759	1.036656	-0.449958273376406	0.23550	1.284853	0.98013832077411	0.30102	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.42	4.46	0.53567	0.263000	0.18247	0.333000	0.17304	-0.187000	0.09635	0.496000	0.26925	0.020000	0.20764	0.476000	0.28476	0.1467:0.6316:0.1422:0.0796	5.138	0.14276	406	0.82375	.;.;.	.	.	.	.	.	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	0.02381	1573.98	37	chr17	58621692	.	C	T	1573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.136;DP=846;ExcessHet=0.0000;FS=1.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-2.880e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1588,0,1389	20	0	1	0
chr17	63534168	63534168	C	T	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon5:c.C958T:p.R320C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.685	M	-4.79	D	1.094	D	0.958	D	0.937	1.064	9.346	3.13	0.882	1.856	12.898	0.910	0.588143917487	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448074366	1.645e-05	1.642e-05	9.548e-06	2.342e-05	0.0002	1.113e-05	9.35e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	1.621e-05	1.662e-05	4.638e-05	6.621e-06	6.591e-06	0	1.357e-05	2.436e-05	0	0	.	.	2.436e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.22	0.89398	M	-4.79	0.98155	D	-7.68	0.95574	D	0.925	0.94550	1.094	0.99386	D	0.958	0.98657	D	10	0.9762363	0.97403	D	0.588144	0.96333	D	0.910	0.97587	.	.	0.864934792122	0.86362	0.93824878106377	0.93804	0.798839681032	0.66148	0.800071537495	0.81973	T	0.899612	0.98021	D	0.384724	0.89009	D	0.517507	0.94972	D	0.993633270263672	0.84513	D	0.970203	0.93576	D	0.8874661	0.90291	0.7230031	0.83642	0.8874661	0.90292	0.7230031	0.83643	-10.191	0.77100	D	.	.	0.561	0.67407	A	.;.;.;.;.	.;.;.;.;.	5.279218	0.88641	29.7	0.9153135955921603	0.20807	0.94755	0.62218	D	AEFGBI	0.658100	0.62949	D	0.40061459609916	0.61458	4.347	0.281607769128394	0.54466	3.611495	0.00478260196341978	0.10711	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.14	3.13	0.35090	2.007000	0.40503	5.890000	0.50749	0.460000	0.21577	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.164:0.836:0.0:0.0	12.898	0.57503	804	0.43891	.;.;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1655.98	38	chr17	63534168	.	C	T	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=956;ExcessHet=0.0000;FS=9.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.282e+00;SOR=0.266	GT:AD:DP:GQ:PL	0/1:75,60:135:99:1670,0,2012	20	0	1	0
chr17	63761318	63761318	G	T	exonic	CCDC47	.	nonsynonymous SNV	CCDC47:NM_020198:exon5:c.C581A:p.T194K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.999	D	0.997	D	0.000	D	1.000	D	1.59	L	.	.	-0.646	T	0.342	T	0.751	3.193	16.69	5.4	2.680	9.662	18.512	0.178	0.00588739967056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774830716	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.13349	T	0.673	0.06245	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	.	.	.	-0.79	0.21860	N	0.754	0.75283	-0.6464	0.62870	T	0.342	0.70754	T	9	0.5118808	0.62144	D	0.005887	0.15340	T	0.178	0.44724	0.369	0.37850	0.80742246399	0.80562	0.6584564080520561	0.65782	0.98513362882	0.73873	0.867678821087	0.92235	D	0.111254	0.42659	T	0.205451	0.74401	D	0.0573403	0.74068	D	0.742978394031525	0.42898	D	0.927407	0.73262	D	0.22297895	0.44909	0.30503103	0.56530	0.22297895	0.44909	0.30503103	0.56529	-4.358	0.30705	T	.	.	0.692	0.74295	P	.;.;.	.;.;.	4.336560	0.66495	25.0	0.93595616136241155	0.23449	0.99454	0.96231	D	AEFDBI	0.913694	0.87603	D	0.386757595582084	0.60705	4.262293	0.494644444265248	0.67634	5.110432	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	9.765000	0.98142	11.707000	0.94592	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	18.512	0.90870	897	0.25382	.;.;.	.	.	.	.	.	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	0.02381	1171.98	37	chr17	63761318	.	G	T	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.020e-01;DP=862;ExcessHet=0.0000;FS=1.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=1.61;SOR=0.873	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1186,0,1316	20	0	1	0
chr17	65160323	65160323	G	A	exonic	RGS9	.	nonsynonymous SNV	RGS9:NM_001081955:exon4:c.G296A:p.S99N	Bradyopsia	.	0	1515	7	0	0	7	0.00230491	.	.	950177	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.947	D	0.000	D	0.792	D	2.325	M	1.86	T	-0.682	T	0.154	T	0.429	0.700	7.734	5.67	2.661	3.241	12.920	0.247	0.026923810084	.	.	0.0001	0	8.646e-05	0	0	0.0002	0	0.0001	9.7e-05	15	154602	rs199644053	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0005	0.0003	0	4.472e-05	0	0	0	0.0010	0.0001	8.281e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.089e-05	5.746e-05	0.0001	0.0001	0	0	0.0001	0	0	0	0	0.0002	0	0	0.002	0.72154	D	0.004	0.74150	D	0.998	0.73220	D	0.911	0.68407	D	0.000309	0.45977	D	0.259107	0.792413	0.34404	D	2.89	0.83701	M	1.86	0.24285	T	-2.23	0.52451	N	0.633	0.66101	-0.6821	0.61275	T	0.154	0.48412	T	10	0.30649507	0.48159	T	0.026924	0.49793	D	0.247	0.55478	.	.	0.72348304321	0.72104	0.661712266188147	0.66108	0.620262069555	0.56343	0.564507603645	0.47904	T	0.144433	0.78388	T	-0.263695	0.12470	T	-0.342257	0.40088	T	0.270143571897617	0.23753	T	0.760524	0.38496	T	0.25126415	0.48133	0.33067042	0.58934	0.25126415	0.48133	0.33067042	0.58934	-10.078	0.74378	D	0.5512813838106042	0.61986	0.275	0.54761	B	.;.;.;.	.;.;.;.	4.594914	0.72715	25.9	0.85588965935708838	0.15987	0.84578	0.43661	D	AEFBI	0.410536	0.48137	N	0.583490109104739	0.72146	5.759785	0.53313560554831	0.70231	5.475154	0.99679338267133	0.35014	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.67	5.67	0.87673	3.475000	0.52900	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.163:0.837:0.0	12.920	0.57623	389	0.83303	DEP domain|DEP domain|DEP domain;DEP domain|DEP domain|DEP domain;.;DEP domain|DEP domain|DEP 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	0.02381	2638.98	33	chr17	65160323	.	G	A	2638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.978e+00;DP=914;ExcessHet=0.0000;FS=1.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=0.884;SOR=0.569	GT:AD:DP:GQ:PL	0/1:91,107:198:99:2653,0,2332	20	0	1	0
chr17	68542082	68542082	C	T	exonic	FAM20A	.	nonsynonymous SNV	FAM20A:NM_017565:exon7:c.G1012A:p.G338S	Amelogenesis imperfecta, type IG (enamel-renal syndrome), Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	1502093	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	N	1.000	D	3.165	M	.	.	0.324	D	0.563	D	0.827	5.233	33	5.01	1.531	7.487	14.953	0.663	0.297249413801	0.0006	0.000599042	0.0004	9.612e-05	0.0003	0	0	0.0007	0.0011	0	0.0004398	68	154602	rs35871101	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	8.961e-05	0.0003	0	0	0	0.0007	0.0008	0.0008	3.478e-05	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0006	4.815e-05	0	0.0006	0	0	0	0	0.0008	0.0005	0	.	.	.	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.042473	1	0.81001	D	3.44	0.92123	M	-1.45	0.80899	T	.	.	.	0.94	0.94668	0.324	0.87930	D	0.563	0.84119	D	9	0.7207696	0.73647	D	0.297249	0.90764	D	.	.	.	.	0.935586001414	0.93491	0.9576704290142696	0.95752	0.664246571213	0.59062	0.753858268261	0.75016	T	0.806324	0.95113	D	0.0276871	0.55414	T	0.226461	0.84499	D	0.398717820644379	0.28894	T	0.954605	0.82717	D	0.8610636	0.88167	0.64598066	0.79301	0.8610636	0.88169	0.64598066	0.79302	-12.585	0.87583	D	.	.	0.814	0.77921	P	.	.	5.134537	0.85943	28.8	0.99859989972013097	0.93820	0.94639	0.61825	D	AEFDBHCI	0.956753	0.97551	D	0.856112899506326	0.89455	9.978276	0.794295820265208	0.89393	9.956783	0.999999999424936	0.74766	0.634777	0.41761	0	0.572659	0.20510	0	0.643519	0.47002	0	0.664235	0.64389	0	.	.	5.98	5.01	0.66477	7.568000	0.81546	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.9319:0.0:0.0681	14.953	0.70741	942	0.12992	FAM20, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2310.98	34	chr17	68542082	.	C	T	2310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.432;DP=857;ExcessHet=0.0000;FS=2.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.12;ReadPosRankSum=-1.637e+00;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,63:135:99:0|1:68542082_C_T:2325,0,2741:68542082	20	0	1	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.134	U	0.773	D	3.115	M	-3.44	D	0.986	D	0.905	D	0.506	3.427	17.59	-0.080	-0.265	-0.468	10.925	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	217.3	33	chr17	69194391	.	T	G	217.3	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.822e+00;DP=1966;ExcessHet=1.7912;FS=271.712;InbreedingCoeff=-0.1603;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.097;SOR=11.722	GT:AD:DP:GQ:PL	0/1:118,44:162:36:36,0,2208	15	0	6	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:13,0,0,20,0:33:99:.:.:701,745,1270,745,1270,1270,0,526,526,466,745,1270,1270,526,1270	12	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACC:p.P33_A34insTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:13,0,0,20,0:33:99:.:.:701,745,1270,745,1270,1270,0,526,526,466,745,1270,1270,526,1270	12	1	1	0
chr17	74893497	74893497	-	CATGGGCTCCGTA	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.98_99insTACGGAGCCCATG:p.A34Tfs*256,	.	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.691e-05	0.0002	0.0011	0.0001	9.685e-05	0.0005	0.0003	3.3e-05	2.49e-05	0.0008	0	0.0009	0.0011	4.107e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0004	0.0018	0.0002	0.0002	0.0009	0.0006	9.334e-05	0	8.304e-05	0	0	0.0013	0	0.0003	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:13,0,0,20,0:33:99:.:.:701,745,1270,745,1270,1270,0,526,526,466,745,1270,1270,526,1270	12	1	1	0
chr17	75624891	75624891	C	-	exonic	MYO15B	.	frameshift deletion	MYO15B:NM_001309242:exon58:c.8549delC:p.Y2851Tfs*51,	.	.	427	1054	38	3	0	44	0.0204461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0091	0.0035	0.0054	0	0	0.0060	0.0061	0.0130	0.0004226	11	26028	rs565251228	0.0038	0.0033	0.0032	0.0043	0.0128	0.0037	0.0036	0.0121	0.0118	0.0004	0.0031	0.0080	6.23e-05	0.0004	0.0071	0.0027	0.0036	0.0128	0.0022	0.0022	0.0019	0.0025	0.0095	0.0020	0.0019	0.0074	0.0066	0.0002	0.0022	0.0046	0.0109	0	0.0003	0.0102	0.0023	0.0028	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1025.94	36	chr17	75624890	.	AC	A	1025.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=937;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-8.730e-01;SOR=0.874	GT:AD:DP:GQ:PL	0/1:55,35:90:99:1040,0,1771	20	0	1	0
chr17	78125168	78125168	G	A	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon6:c.C526T:p.R176C	Epidermodysplasia verruciformis, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	1126827	Epidermodysplasia_verruciformis|Inborn_genetic_diseases	MONDO:MONDO:0009176,MedGen:C0014522,OMIM:PS226400,Orphanet:302|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.585	P	0.102	B	.	.	1.000	D	1.155	L	0.11	T	-0.943	T	0.096	T	0.292	2.241	13.45	0.957	1.522	1.872	2.753	0.078	0.30882168713	7.7e-05	0.000399361	0.0005	0.0003	0	0	0	9.174e-05	0.0049	0.0012	0.0001617	25	154602	rs112743475	0.0001	0.0001	9.081e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	3.066e-05	7.933e-05	0	0	0	0.0007	5.419e-05	0.0001	0.0014	0.0001	0.0001	3.853e-05	0.0002	0.0017	8.159e-05	6.717e-05	0.0008	0.0006	9.616e-05	0	0	0	0	0	0	8.82e-05	0.0005	0.0017	0.034	0.45039	D	0.123	0.36901	T	0.585	0.38912	P	0.102	0.30857	B	.	.	.	.	0.889728	0.81001	D	2.95	0.84923	M	0.11	0.61208	T	-4.34	0.78472	D	0.228	0.29197	-0.9425	0.42218	T	0.096	0.36263	T	9	0.017108172	0.00363	T	0.308822	0.91120	D	0.078	0.22779	.	.	0.381239546501	0.37731	0.4932655510164084	0.49247	0.244973407619	0.27023	0.672464847565	0.63189	T	0.291562	0.66431	T	-0.367515	0.03722	T	-0.313916	0.43237	T	0.338565677404404	0.26567	T	0.912309	0.68816	D	0.17928296	0.38992	0.1334257	0.31996	0.17243223	0.37934	0.13190188	0.31662	-8.072	0.61560	D	.	.	0.132	0.34580	B	.;.;.;.;.	.;.;.;.;.	4.774579	0.77330	26.7	0.99447807971282243	0.65122	0.76585	0.37572	D	AEFDGBCI	0.334857	0.43349	N	-0.245573959427439	0.31280	1.752399	-0.192056016180864	0.31828	1.804882	0.999999995382184	0.74766	0.695654	0.57023	0	0.52208	0.09955	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.27	0.957	0.18736	1.973000	0.40173	8.137000	0.76672	0.616000	0.49467	0.418000	0.26314	1.000000	0.68203	0.922000	0.45779	0.1197:0.1774:0.5222:0.1807	2.753	0.04960	846	0.36215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	480.98	35	chr17	78125168	.	G	A	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.772e+00;DP=751;ExcessHet=0.0000;FS=3.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=1.40;SOR=0.491	GT:AD:DP:GQ:PL	0/1:13,21:34:99:495,0,328	20	0	1	0
chr17	78821050	78821050	C	T	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon7:c.G274A:p.V92M	.	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.013	B	0.009	B	0.041	N	1.000	D	1.35	L	3.43	T	-0.981	T	0.009	T	0.095	0.992	9.049	-2.42	-0.325	-0.032	7.209	0.018	0.0031113896925	0.0011	0.00139776	0.0022	0.0006	0.0011	0.0002	0.0004	0.0024	0	0.0046	0.0015653	242	154602	rs142216826	0.0020	0.0020	0.0019	0.0020	0.0048	0.0019	0.0019	0.0044	0.0042	0.0002	0.0014	0.0026	2.544e-05	9.607e-05	0.0021	0.0020	0.0024	0.0048	0.0014	0.0014	0.0014	0.0014	0.0031	0.0012	0.0012	0.0020	0.0018	0.0005	0.0022	0.0027	0.0032	0	0.0003	0	0.0016	0.0038	0.0031	0.357	0.12032	T	0.117	0.36365	T	.	.	.	.	.	.	0.040924	0.24004	N	0.462816	0.999992	0.58761	D	2	0.54354	M	3.43	0.05440	T	-0.41	0.14000	N	0.173	0.19055	-0.9805	0.34886	T	0.009	0.03448	T	10	0.005590886	0.00124	T	0.003111	0.06756	T	0.018	0.03083	.	.	0.12205267543	0.11705	0.24626279601079573	0.24540	0.0790116083533	0.08888	0.309265434742	0.11796	T	0.011734	0.10428	T	-0.648782	0.00074	T	-0.704715	0.05572	T	0.00701050738788474	0.00080	T	0.327867	0.06820	T	0.05568472	0.10857	0.12082746	0.29156	0.05568472	0.10856	0.12082746	0.29155	-7.595	0.58276	D	.	.	0.087	0.35352	B	.;.;.;.	.;.;.;.	0.865060	0.12376	8.914	0.91491512338676295	0.20764	0.09175	0.14983	N	AEFDBCI	0.051140	0.09005	N	-1.1827384828026	0.05260	0.2394057	-1.19208696347302	0.06041	0.2896104	0.977218899927825	0.29799	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	-2.42	0.06164	0.026000	0.13490	-0.705000	0.07776	-1.716000	0.00736	0.002000	0.15269	0.000000	0.08366	0.872000	0.41544	0.0:0.493:0.2233:0.2837	7.209	0.25097	946	0.12043	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	674.98	34	chr17	78821050	.	C	T	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=888;ExcessHet=0.0000;FS=1.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-8.760e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/1:41,31:72:99:689,0,903	20	0	1	0
chr17	80048756	80048756	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon5:c.G850C:p.D284H	Ciliary dyskinesia, primary, 15	.	0	1480	41	1	0	43	0.014319	.	.	256485	not_provided|Primary_ciliary_dyskinesia_15|not_specified|Male_infertility|Primary_ciliary_dyskinesia	MedGen:C3661900|MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|MedGen:CN169374|Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MedGen:C0021364|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	.	.	0.634	D	2.495	M	1.96	T	-0.255	T	0.347	T	0.673	3.222	16.80	1.55	0.409	0.461	8.520	0.174	.	0.0024	0.00139776	0.0041	0.0012	0.0013	0	0	0.0039	0.0145	0.0102	0.002639	408	154602	rs201042940	0.0025	0.0025	0.0023	0.0027	0.0191	0.0024	0.0024	0.0162	0.0151	0.0011	0.0013	0.0062	0	0.0002	0.0191	0.0021	0.0032	0.0087	0.0016	0.0016	0.0014	0.0018	0.0087	0.0014	0.0014	0.0066	0.0059	0.0004	0.0011	0.0008	0.0037	0	0.0002	0.0204	0.0021	0.0043	0.0087	0.004	0.72154	D	0.008	0.76473	D	1.0	0.90584	D	0.968	0.75168	D	.	.	.	.	0.633722	0.32813	D	2.83	0.82355	M	0.33	0.59314	T	-4.65	0.84601	D	0.53	0.55886	-0.2553	0.76216	T	0.347	0.71147	T	9	0.01399526	0.00295	T	.	.	.	0.174	0.44019	.	.	0.682504492806	0.67979	0.24220831427307404	0.24134	0.76162819002	0.64289	0.405483782291	0.25832	T	0.56747	0.85623	D	-0.250417	0.14046	T	-0.125376	0.61358	T	0.0493624269693155	0.05388	T	0.881912	0.64770	D	0.2342842	0.46246	0.24963558	0.50538	0.23541293	0.46377	0.29497436	0.55528	-7.763	0.62419	D	0.7666023762268043	0.84792	0.346	0.56831	A	.;.;.;.	.;.;.;.	2.747739	0.36012	20.1	0.99456458065418962	0.65581	0.51224	0.28846	D	AEFGBIJ	0.137980	0.25913	N	0.264883616036358	0.54378	3.603614	0.120231942431681	0.45586	2.81906	6.51723434342093E-4	0.07551	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.7	1.55	0.22356	0.526000	0.22680	0.951000	0.22923	0.676000	0.76740	0.531000	0.27197	0.039000	0.21534	0.958000	0.51230	0.2692:0.0:0.7308:0.0	8.520	0.32428	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	2491.11	35	chr17	80048756	.	G	C	2491.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.16;DP=941;ExcessHet=0.1072;FS=3.153;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.014;SOR=0.513	GT:AD:DP:GQ:PL	0/1:79,66:145:99:1775,0,1977	19	0	2	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,155,0:231:99:0|1:80090216_G_C:5173,0,2170,5401,2635,8036:80090216	1	6	9	4
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,87,0:150:99:0|1:80090216_G_C:3126,0,1932,3313,2195,5508:80090216	1	7	4	7
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.345	M	0.05	T	-0.291	T	0.378	T	0.868	1.497	10.95	-2.31	-0.428	1.091	14.272	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	.	.	.	.	.	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	1	0	0	0	0.1818	417.46	117	chr17	82253179	.	G	C	417.46	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-4.148e+00;DP=3037;ExcessHet=0.6776;FS=215.249;InbreedingCoeff=-0.2728;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=1.94;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:149,63:212:76:.:.:76,0,2506	7	0	4	10
chr17	82322337	82322337	C	A	exonic	SECTM1	.	nonsynonymous SNV	SECTM1:NM_003004:exon5:c.G571T:p.V191F,	.	.	412	1101	8	1	0	10	0.0045208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	N	0.345	N	.	.	-1.035	T	0.028	T	0.112	0.361	5.961	-1.73	-0.862	-0.347	1.957	0.024	.	0.0048	0.00559105	0.0056	0.0011	0.0027	0	0.0006	0.0058	0.0056	0.0149	0.0058085	898	154602	rs17855476	0.0078	0.0078	0.0075	0.0080	0.0164	0.0076	0.0076	0.0156	0.0154	0.0010	0.0020	0.0080	0	0.0006	0.0115	0.0082	0.0072	0.0164	0.0051	0.0051	0.0052	0.0049	0.0153	0.0048	0.0046	0.0125	0.0115	0.0013	0.0373	0.0024	0.0081	0	0.0006	0.0170	0.0077	0.0043	0.0153	0.211	0.19569	T	0.151	0.32355	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.38	0.13418	N	0.088	0.06587	-1.0352	0.18794	T	0.028	0.11926	T	8	0.002844125	0.00045	T	.	.	.	0.024	0.04979	.	.	0.154104182512	0.14974	0.06365816293353661	0.06304	0.179775185695	0.20224	0.41594094038	0.27277	T	0.005948	0.05392	T	-0.63319	0.00091	T	-0.669337	0.07651	T	0.000741409941680428	0.00007	T	0.291471	0.05330	T	0.046341494	0.07740	0.052156765	0.08536	0.046341494	0.07740	0.052156765	0.08535	-5.561	0.42434	T	.	.	0.088	0.11606	B	.	.	-0.098779	0.03647	0.729	0.93253692623701145	0.22944	0.00243	0.01347	N	AEFDBCI	0.024067	0.01432	N	-1.66519062439469	0.00973	0.04215244	-1.76799421538723	0.00867	0.03876329	0.999973136327493	0.50053	0.646311	0.45356	0	0.610034	0.51514	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	0.867	-1.73	0.07646	-3.009000	0.00712	-1.190000	0.06072	-2.360000	0.00306	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3988:0.3048:0.0:0.2964	1.957	0.03173	.	.	.	.	.	.	.	rs17855476	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1369.98	35	chr17	82322337	.	C	A	1369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=1.31;SOR=0.699	GT:AD:DP:GQ:PL	0/1:39,52:91:99:1384,0,942	20	0	1	0
chr17	82587104	82587104	G	A	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon8:c.G1618A:p.G540S,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.982	D	0.655	P	0.000	D	0.635	D	0.55	N	-3.32	D	0.204	D	0.644	D	0.784	2.554	14.50	4.21	1.407	5.644	10.159	0.458	0.109527801523	0.0009	0.00199681	0.0012	0.0006	0.0007	0.0006	0.0006	0.0012	0.0022	0.0024	0.0012354	191	154602	rs146173102	0.0012	0.0012	0.0012	0.0013	0.0069	0.0012	0.0012	0.0052	0.0046	0.0008	0.0018	7.654e-05	0.0003	0.0005	0.0069	0.0013	0.0013	0.0019	0.0016	0.0016	0.0015	0.0017	0.0042	0.0014	0.0013	0.0034	0.0031	0.0008	0.0175	0.0042	0	0.0002	0.0005	0	0.0016	0.0009	0.0017	0.32	0.13566	T	0.516	0.10607	T	0.969	0.56768	D	0.453	0.46205	P	0.000019	0.62929	D	0.116585	0.635172	0.32825	D	1.935	0.51832	L	-3.32	0.93882	D	-1.57	0.37955	N	0.459	0.49602	0.204	0.85981	D	0.644	0.87575	D	10	0.017086625	0.00363	T	0.109528	0.78653	D	0.458	0.75619	.	.	0.952294340222	0.95179	0.4196120269935411	0.41877	0.267531380443	0.29297	0.496399670839	0.38326	T	0.217615	0.58011	T	-0.0475569	0.44818	T	0.154296	0.80454	D	0.0327815234043562	0.02435	T	0.893011	0.63001	D	0.04873817	0.08542	0.07729893	0.17204	0.04873817	0.08542	0.07729893	0.17204	-3.03	0.10508	T	.	.	0.095	0.14933	B	.	.	2.957761	0.39377	20.9	0.99408174414756645	0.63122	0.97893	0.77924	D	AEFBI	0.600503	0.59311	D	-0.121047941914808	0.36477	2.108977	-0.152317994270028	0.33320	1.90471	0.98530964943548	0.30864	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.18	4.21	0.48984	4.913000	0.63039	6.755000	0.56521	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.1515:0.0:0.8485:0.0	10.159	0.42017	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2649.98	112	chr17	82587104	.	G	A	2649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=1679;ExcessHet=0.0000;FS=2.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=-4.360e-01;SOR=0.933	GT:AD:DP:GQ:PL	0/1:81,98:179:99:2664,0,1845	20	0	1	0
chr18	47397	47397	A	G	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.T1328C:p.V443A,	.	.	39	1474	3	0	6	9	0.0010166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.333	U	.	.	.	.	-1.17	T	-0.571	T	0.350	T	0.391	-0.824	0.613	-0.218	-1.418	-3.794	3.311	0.315	.	.	0.000998403	0.0048	0.0005	0.0031	0	0	0.0015	0	0.0208	0.0011319	175	154602	rs543847261	0.0013	0.0010	0.0008	0.0017	0.0098	0.0012	0.0012	0.0092	0.0090	4.533e-05	0.0007	0.0039	0	0	0.0037	0.0004	0.0012	0.0098	0.0006	0.0007	0.0006	0.0007	0.0071	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0006	0.0049	0	0	0	0.0005	0	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	0.333067	0.14082	U	0.506720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5705	0.65994	T	0.350	0.71423	T	6	0.005631894	0.00125	T	.	.	.	0.315	0.63694	0.096	0.01287	0.104622674875	0.10061	0.045173317144472445	0.04461	.	.	.	.	.	.	.	.	-0.0386622	0.46147	T	-0.293312	0.45427	T	0.00136554006221872	0.00014	T	0.183482	0.01887	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01367	B	.	.	0.287563	0.06639	3.138	0.23160061763672588	0.00966	0.00429	0.02107	N	AEFBI	0.027658	0.02299	N	-1.29934665267713	0.03684	0.1650012	-1.55233019148236	0.01960	0.08948774	1.11432894442766E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-0.643000	0.05518	5.128000	0.47635	-0.517000	0.04986	0.000000	0.06391	1.000000	0.68203	0.015000	0.10482	0.3608:0.0:0.0:0.6391	3.311	0.06604	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	440.11	19	chr18	47397	.	A	G	440.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.328e+00;DP=399;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=40.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.535;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,6:18:99:0|1:47397_A_G:216,0,486:47397	19	0	2	0
chr18	47400	47400	T	A	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.A1325T:p.E442V,	.	.	39	1474	3	0	6	9	0.0010166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.097	U	.	.	.	.	-0.56	T	-0.536	T	0.280	T	0.559	0.278	5.502	0.109	0.156	3.734	4.622	0.290	.	.	0.000998403	0.0045	0.0004	0.0028	0	0	0.0015	0	0.0194	5.17e-05	8	154602	rs562842438	0.0013	0.0010	0.0008	0.0017	0.0099	0.0012	0.0012	0.0093	0.0091	4.423e-05	0.0008	0.0039	0	0	0.0040	0.0004	0.0012	0.0099	0.0006	0.0007	0.0006	0.0007	0.0069	0.0005	0.0005	0.0048	0.0042	0.0001	0	0.0006	0.0049	0	0	0	0.0005	0	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	0.096925	0.20052	U	0.416142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5363	0.67304	T	0.280	0.65229	T	6	0.004152298	0.00082	T	.	.	.	0.290	0.60924	0.166	0.07071	0.529561333529	0.52604	0.19734100328541077	0.19651	.	.	.	.	.	.	.	.	0.00873099	0.52851	T	-0.225235	0.52233	T	0.0312173155624318	0.02180	T	0.279972	0.04873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24498	B	.	.	2.018511	0.25648	16.84	0.54138458118977728	0.05078	0.84034	0.43120	D	AEFBI	0.264245	0.38163	N	-0.455377350519853	0.23558	1.265943	-0.656872253338677	0.18044	0.9621582	7.32725240324717E-5	0.04552	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	3.951000	0.56392	7.661000	0.64234	0.319000	0.19345	0.998000	0.41325	1.000000	0.68203	0.062000	0.16114	0.0:4.0E-4:0.0:0.9996	4.622	0.11842	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	440.11	19	chr18	47400	.	T	A	440.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.198e+00;DP=404;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=40.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.234;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,6:18:99:0|1:47397_A_G:216,0,486:47397	19	0	2	0
chr18	8786033	8786033	G	A	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon6:c.G2909A:p.R970H	.	.	420	1031	66	5	0	76	0.0355472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.05	B	0.015	B	0.326	N	1.000	D	1.445	L	0.71	T	-1.074	T	0.060	T	0.258	1.642	11.45	2.74	0.277	4.366	11.209	0.055	.	0.0049	0.00738818	0.0128	0.0016	0.0385	0.0150	0	0.0098	0.0254	0.0148	0.0082987	1283	154602	rs202096044	0.0076	0.0076	0.0073	0.0079	0.0433	0.0075	0.0075	0.0385	0.0367	0.0028	0.0227	0.0129	0.0136	0.0003	0.0433	0.0067	0.0096	0.0103	0.0068	0.0069	0.0067	0.0070	0.0128	0.0065	0.0063	0.0114	0.0108	0.0021	0.0462	0.0128	0.0130	0.0118	9.482e-05	0.0514	0.0073	0.0157	0.0123	0.18	0.30943	T	0.188	0.37730	T	0.048	0.22112	B	0.015	0.17295	B	0.325834	0.14195	N	0.591474	0.596131	0.81001	D	1.355	0.33814	L	0.71	0.51228	T	-1.8	0.45042	N	0.39	0.43126	-1.0737	0.08619	T	0.060	0.25163	T	10	0.0044347644	0.00091	T	.	.	.	0.055	0.15663	.	.	0.40417439687	0.40030	0.12613992147701064	0.12539	0.128050012963	0.14436	0.463122904301	0.33739	T	0.066765	0.33029	T	-0.46786	0.00877	T	-0.426572	0.30325	T	0.0151532797344599	0.00330	T	0.836316	0.50742	T	0.06137621	0.12703	0.08209207	0.18710	0.06137621	0.12703	0.08209207	0.18709	-3.825	0.25980	T	.	.	0.095	0.20741	B	.;.;.;.	.;.;.;.	3.117161	0.42069	21.5	0.99017006908003979	0.50484	0.93051	0.57203	D	AEFDBCI	0.467063	0.51445	N	-0.413658461604611	0.24990	1.353313	-0.372666341141941	0.25815	1.422005	0.999997622467162	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.54	2.74	0.31352	4.533000	0.60328	0.857000	0.22192	0.672000	0.70159	1.000000	0.71638	0.000000	0.08366	0.360000	0.25886	0.2033:0.0:0.7967:0.0	11.209	0.48015	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	0.04762	997.11	34	chr18	8786033	.	G	A	997.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.638;DP=747;ExcessHet=0.1072;FS=3.468;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=1.03;SOR=1.203	GT:AD:DP:GQ:PL	0/1:18,27:45:99:658,0,393	19	0	2	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,0,324:325:99:.:.:14448,14944,17849,1120,1535,0	3	2	4	0
chr18	9887405	9887414	CCAAGGAGGG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,324,0:325:99:.:.:14448,1120,0,14944,1535,17849	7	3	4	6
chr18	9887406	9887414	CAAGGAGGG	-	exonic	TXNDC2	.	nonframeshift deletion	TXNDC2:NM_001098529:exon2:c.927_935del:p.K310_G312del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.676e-05	1.869e-05	1.541e-05	1.814e-05	5.184e-05	1.006e-05	7.98e-06	7.41e-06	5.4e-06	5.184e-05	0	0	3.629e-05	7.729e-05	0	1.466e-05	0	1.809e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,324,0:325:99:.:.:14448,1120,0,14944,1535,17849	7	3	4	6
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,324,0:325:99:.:.:14448,1120,0,14944,1535,17849	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,324,0:325:99:.:.:14448,1120,0,14944,1535,17849	7	3	8	2
chr18	11897017	11897017	T	C	exonic	MPPE1	.	nonsynonymous SNV	MPPE1:NM_001242904:exon2:c.A248G:p.E83G	.	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.975	D	0.591	P	0.000	D	0.512	D	1.87	L	2.2	T	-1.045	T	0.013	T	0.29	1.985	12.60	1.04	-0.000	2.762	7.420	0.068	.	0.0004	0.0207668	0.0157	0.0017	0.1077	0.0594	0	0.0004	0.0072	0.0040	0.0135703	2098	154602	rs138456014	0.0042	0.0046	0.0044	0.0040	0.0853	0.0041	0.0041	0.0829	0.0819	0.0011	0.0853	4.02e-05	0.0495	0	0.0002	0.0001	0.0050	0.0042	0.0072	0.0072	0.0069	0.0075	0.0492	0.0068	0.0067	0.0443	0.0423	0.0021	0	0.0457	0	0.0492	0	0	0.0002	0.0076	0.0052	0.297	0.14645	T	0.297	0.40586	T	0.257	0.58077	B	0.216	0.50479	B	0.000238	0.47286	D	0.219625	0.51245	0.31830	D	2.48	0.72069	M	2.2	0.85247	T	-3.24	0.65171	D	0.14	0.18512	-1.0448	0.15884	T	0.013	0.05081	T	10	0.002705723	0.00042	T	.	.	.	0.068	0.19811	.	.	.	.	0.811936928221485	0.81149	0.341310771531	0.36068	0.380935847759	0.22389	T	0.483758	0.86551	T	-0.371123	0.03537	T	-0.235571	0.51229	T	0.0496645549582856	0.05441	T	0.966403	0.87711	D	0.37496114	0.58949	0.3462949	0.60299	0.37496114	0.58949	0.3462949	0.60299	-7.755	0.63565	D	.	.	0.149	0.44015	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.566372	0.33247	19.28	0.9963615111106221	0.76387	0.70722	0.34709	D	AEFGBI	0.356281	0.44772	N	-0.270301687462534	0.30299	1.688221	-0.350061133897748	0.26506	1.46457	0.999603408636733	0.40866	0.562547	0.31514	0	0.653731	0.59785	0	0.408882	0.06424	0	0.528226	0.09195	0	.	.	4.94	1.04	0.19220	2.977000	0.48988	3.769000	0.39747	0.665000	0.62972	0.996000	0.39380	0.996000	0.32793	0.781000	0.36947	0.0:0.0737:0.2839:0.6424	7.420	0.26238	912	0.21483	Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.;.;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;Calcineurin-like phosphoesterase domain, ApaH type;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	922.0	33	chr18	11897017	.	T	C	922.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e-01;DP=744;ExcessHet=0.0000;FS=3.105;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=56.79;MQRankSum=0.022;QD=12.29;ReadPosRankSum=-5.000e-03;SOR=0.400	GT:AD:DP:GQ:PL	0/1:38,37:75:99:936,0,941	20	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q,	.	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:184,27:211:99:265,0,4784	9	0	12	0
chr18	26862319	26862319	T	C	exonic	AQP4	.	nonsynonymous SNV	AQP4:NM_004028:exon1:c.A244G:p.M82V	.	.	.	.	.	.	.	.	.	.	.	2300625	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.745	P	0.186	B	0.000	D	1.000	D	1.18	L	-3.1	D	0.344	D	0.621	D	0.924	2.583	14.60	5.57	2.111	5.858	15.726	0.757	0.100736450315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.03	0.54541	D	0.745	0.43117	P	0.186	0.36104	B	0.000000	0.84330	D	0.070847	1	0.81001	D	1.505	0.38159	L	-3.1	0.92667	D	-2.02	0.46503	N	0.892	0.89131	0.344	0.88247	D	0.621	0.86655	D	10	0.81390727	0.80648	D	0.100736	0.77320	D	0.757	0.91710	0.66	0.79791	0.954308010382	0.95382	0.8559068910614501	0.85553	0.316271458439	0.33892	0.694396734238	0.66337	T	0.664132	0.89956	D	0.412431	0.90615	D	0.354652	0.90498	D	0.955891966819763	0.64621	D	0.89721	0.64041	D	0.5982942	0.72599	0.42119926	0.66059	0.5982942	0.72600	0.42119926	0.66060	-8.765	0.66992	D	0.5398990033949932	0.60968	0.331	0.58837	B	.;.;.;.	.;.;.;.	4.155447	0.62368	24.4	0.97734037623051107	0.35640	0.97220	0.73400	D	AEFGBI	0.881770	0.80938	D	0.287732454400891	0.55527	3.716669	0.398370267482019	0.61463	4.34686	0.999999996746681	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	5.836000	0.69081	5.091000	0.47354	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.726	0.77519	973	0.05605	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1747.98	42	chr18	26862319	.	T	C	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.945e+00;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.430e+00;SOR=0.694	GT:AD:DP:GQ:PL	0/1:69,71:140:99:1762,0,1838	20	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	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:24,21:45:99:191,0,273	1	0	20	0
chr18	36215696	36215696	G	T	exonic	MOCOS	.	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.G1516T:p.G506W,	Xanthinuria, type II, Autosomal recessive	.	418	1096	6	2	0	10	0.00454133	.	.	756440	Xanthinuria_type_II	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.983	D	0.523	P	0.134	N	1.000	N	0	N	2.3	T	-0.984	T	0.019	T	0.118	2.502	14.33	-8.62	-1.962	-1.799	0.903	0.138	.	7.7e-05	0.00219649	0.0005	0	0.0003	0	0	7.509e-05	0	0.0034	0.0005045	78	154602	rs149198061	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	0.0002	0	0	0	0.0017	8.453e-05	0.0004	0.0027	0.0002	0.0002	0.0001	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	0.0002	0	0.0002	0	0	8.824e-05	0	0.0044	0.017	0.51248	D	0.024	0.56640	D	0.983	0.60381	D	0.523	0.48316	P	0.133691	0.02829	N	1.758710	1	0.08975	N	1.355	0.33814	L	2.3	0.16953	T	-0.59	0.17624	N	0.306	0.34552	-0.9840	0.34069	T	0.019	0.08173	T	10	0.0050515234	0.00109	T	.	.	.	0.138	0.37187	.	.	0.0920862733494	0.08535	0.31011833918129494	0.30924	0.235098826708	0.26036	0.234153389931	0.02289	T	0.024831	0.18684	T	-0.651387	0.00071	T	-0.7115	0.05219	T	0.093951621976235	0.11678	T	0.360864	0.08314	T	0.05138473	0.09430	0.034130704	0.02426	0.05138473	0.09429	0.034130704	0.02425	-5.42	0.41111	T	.	.	0.092	0.13409	B	.	.	-0.280593	0.02704	0.353	0.92477289572119692	0.21907	0.12137	0.17082	N	AEFBCI	0.166213	0.29278	N	-1.35114553096167	0.03113	0.1385413	-1.55497535745805	0.01942	0.08862845	0.99981880238805	0.43459	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.45	-8.62	0.00765	-1.470000	0.02452	-3.271000	0.02918	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4085:0.1953:0.1251:0.2711	0.903	0.01198	750	0.51762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1182.98	37	chr18	36215696	.	G	T	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.14;DP=885;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=1.07;SOR=0.874	GT:AD:DP:GQ:PL	0/1:62,46:108:99:1197,0,1568	20	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.958	D	0.563	P	0.066	N	1.000	N	1.525	L	0.96	T	-1.043	T	0.086	T	0.141	-0.215	2.958	0.957	-0.051	1.229	2.399	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	2337.79	46	chr18	37067196	.	T	C	2337.79	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-6.944e+00;DP=2815;ExcessHet=3.5521;FS=193.128;InbreedingCoeff=-0.2495;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.16;ReadPosRankSum=1.87;SOR=12.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:183,81:264:99:.:.:708,0,3676	13	0	8	0
chr18	47098222	47098222	-	A	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829dupA:p.S281Kfs*11	.	.	734	696	20	0	72	92	0.0141643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/3:10,0,0,19:29:99:560,590,906,590,906,906,0,315,315,258	15	0	2	0
chr18	47098222	47098222	-	AA	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829_830insAA:p.S281Kfs*4	.	.	1	172	24	0	29	53	0.0652174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/3:10,0,0,19:29:99:560,590,906,590,906,906,0,315,315,258	15	0	2	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.97	D	0.000	D	1.000	D	2.14	M	1.12	T	-0.636	T	0.251	T	0.859	4.345	22.9	5.97	2.288	9.339	15.443	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	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	0.15	998.11	35	chr18	51177112	.	A	G	998.11	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.966e+00;DP=1568;ExcessHet=1.7912;FS=106.025;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.704;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,23:111:99:.:.:101,0,1760	14	0	6	1
chr18	57706561	57706561	C	T	exonic	ATP8B1	.	nonsynonymous SNV	ATP8B1:NM_001374385:exon3:c.G208A:p.D70N	Cholestasis, benign recurrent intrahepatic, Autosomal recessive;Cholestasis, intrahepatic, of pregnancy, 1, Autosomal dominant;Cholestasis, progressive familial intrahepatic 1, Autosomal recessive	.	41	1460	19	2	0	23	0.00781515	.	.	22310	not_specified|Benign_recurrent_intrahepatic_cholestasis_type_1|Cholestasis,_intrahepatic,_of_pregnancy,_1|not_provided|Progressive_familial_intrahepatic_cholestasis_type_2|Progressive_familial_intrahepatic_cholestasis_type_1	MedGen:CN169374|MONDO:MONDO:0009469,MedGen:C4551899,OMIM:243300,Orphanet:65682,Orphanet:99960|MONDO:MONDO:0007829,MedGen:C3549845,OMIM:147480,Orphanet:69665|MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304|MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.926	D	0.000	N	0.999	D	0.845	L	0.05	T	-0.749	T	0.205	T	0.14	2.866	15.55	5.07	1.534	5.036	14.789	0.225	0.0767283979416	0.0024	0.00179712	0.0032	0.0010	0.0013	0.0001	0	0.0048	0.0057	0.0024	0.003247	502	154602	rs34719006	0.0036	0.0036	0.0035	0.0036	0.0222	0.0035	0.0035	0.0191	0.0179	0.0014	0.0020	0.0095	5.039e-05	0.0004	0.0222	0.0038	0.0044	0.0022	0.0030	0.0030	0.0029	0.0031	0.0043	0.0028	0.0027	0.0039	0.0037	0.0013	0	0.0039	0.0058	0	9.438e-05	0.0306	0.0043	0.0090	0.0017	0.255	0.16848	T	0.285	0.21343	T	1.0	0.90584	D	0.926	0.66095	D	0.000018	0.62929	N	0.150519	0.999207	0.46326	A	0.935	0.23595	L	0.05	0.61923	T	-2.38	0.52451	N	0.393	0.43417	-0.7488	0.57998	T	0.205	0.56293	T	10	0.009497732	0.00214	T	0.076728	0.72601	D	0.225	0.52323	.	.	0.79086341652	0.78891	0.597476656237495	0.59678	.	.	0.542955636978	0.44864	T	0.181016	0.53254	T	-0.449202	0.01142	T	-0.417208	0.31395	T	0.0355616597197093	0.02904	T	0.89721	0.64041	D	0.093981616	0.22086	0.08575032	0.19820	0.088583745	0.20668	0.10292975	0.24683	-5.33	0.40239	T	.	.	0.105	0.19114	B	.;.	.;.	4.425896	0.68596	25.3	0.99671671621269042	0.78652	0.91551	0.53766	D	AEFGBCI	0.670385	0.63749	D	0.158388486482392	0.49210	3.123942	0.175577965598586	0.48512	3.066187	0.999998103517215	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.94	5.07	0.68106	5.179000	0.64881	4.859000	0.45451	-0.204000	0.08590	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.9304:0.0:0.0696	14.789	0.69449	982	0.03397	P-type ATPase, N-terminal;P-type ATPase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2144.11	34	chr18	57706561	.	C	T	2144.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.81;DP=829;ExcessHet=0.1072;FS=5.938;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-1.973e+00;SOR=1.174	GT:AD:DP:GQ:PL	0/1:41,38:79:99:972,0,940	19	0	2	0
chr18	63637976	63637976	T	G	exonic	SERPINB4	.	nonsynonymous SNV	SERPINB4:NM_002974:exon8:c.A916C:p.N306H	.	.	420	1100	1	0	1	2	0.000454339	.	.	3311027	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.003	B	0.086	N	1.000	N	1.1	L	-1.68	D	-1.026	T	0.098	T	0.055	1.548	11.13	2.73	0.634	1.000	10.088	0.196	0.0114363561201	0.0002	.	0.0003	0	0	0	0	0.0005	0	0	0.0002458	38	154602	rs199573595	0.0002	0.0002	0.0002	0.0002	2.968e-05	0.0002	0.0001	2.117e-05	1.862e-05	0	0	0.0070	0	0	0	2.968e-05	0.0005	0	0.0002	0.0002	0.0002	0.0001	.	0.0001	0.0001	.	.	0	0	0	0.0081	0	0	0	0	0.0005	0	0.032	0.44694	D	0.02	0.58613	D	0.001	0.07471	B	0.003	0.08700	B	0.086363	0.20591	N	0.341364	1	0.08975	N	0.525	0.13617	N	-1.68	0.82897	D	-1.71	0.40660	N	0.076	0.05037	-1.0257	0.21853	T	0.098	0.36651	T	10	0.00910148	0.00206	T	0.011436	0.29067	T	0.196	0.47777	.	.	0.425499470309	0.42167	0.2491818284149487	0.24832	0.00978697404399	0.00889	.	.	.	0.181099	0.53266	T	-0.24967	0.14138	T	-0.465959	0.25952	T	0.0232180197173724	0.01050	T	0.174083	0.01670	T	0.06708554	0.14496	0.05135617	0.08247	0.06708554	0.14495	0.05135617	0.08246	-6.184	0.47793	T	.	.	0.175	0.38318	B	.	.	1.132097	0.15185	11.66	0.95130855168726292	0.26240	0.19854	0.20821	N	AEGCI	0.127087	0.24431	N	-0.667609219102752	0.16949	0.8680263	-0.775996226770968	0.15085	0.791573	2.66374471248E-4	0.06244	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.51	2.73	0.31266	1.244000	0.32381	-0.185000	0.11094	-0.177000	0.10537	0.374000	0.25957	0.000000	0.08366	0.001000	0.02609	0.0:0.835:0.0:0.165	10.088	0.41601	957	0.09725	Serpin domain|Serpin 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	0.02381	3070.98	34	chr18	63637976	.	T	G	3070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.706;DP=905;ExcessHet=0.0000;FS=0.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-8.790e-01;QD=15.05;ReadPosRankSum=-1.750e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/1:90,114:204:99:3085,0,2398	20	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,29:87:99:0|1:65824683_C_G:309,0,1190:65824683	0	0	20	1
chr18	68714963	68714963	A	G	exonic	TMX3	.	nonsynonymous SNV	TMX3:NM_001350512:exon1:c.T19C:p.W7R	.	.	422	1096	4	0	0	4	0.00182149	.	.	1253844	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.36	T	0.001	B	0.003	B	0.119	N	1.000	N	1.15	L	2.99	T	-0.987	T	0.001	T	0.556	0.460	6.499	-4.55	-1.056	-0.521	0.223	0.240	.	0.0005	0.014377	0.0125	0	0.0132	0.1894	0	0.0008	0.0155	0.0042	0.0045795	708	154602	rs117138050	0.0027	0.0028	0.0027	0.0028	0.0808	0.0027	0.0026	0.0784	0.0774	0.0001	0.0027	0.0014	0.0808	4.009e-05	0.0007	0.0002	0.0049	0.0040	0.0033	0.0034	0.0028	0.0039	0.0835	0.0031	0.0030	0.0770	0.0744	0.0001	0	0.0016	0.0014	0.0835	0	0	0.0002	0.0033	0.0039	0.301	0.14449	T	0.172	0.39954	T	0.0	0.07471	B	0.0	0.08700	B	0.118738	0.02706	N	1.755810	1	0.08975	N	1.545	0.39105	L	2.94	0.11189	T	-1.14	0.29323	N	0.035	0.11197	-0.9866	0.33445	T	0.001	0.00222	T	10	0.002065301	0.00029	T	.	.	.	0.240	0.54500	0.78	0.90465	0.0401082797425	0.02173	0.32586542069284663	0.32499	0.462295369648	0.45768	0.368940383196	0.20679	T	0.027107	0.19921	T	-0.568019	0.00227	T	-0.520152	0.20278	T	0.00665025288293701	0.00075	T	0.282272	0.04954	T	0.10535578	0.24909	0.05482436	0.09501	0.10535578	0.24908	0.05482436	0.09500	-3.651	0.18597	T	.	.	0.086	0.29255	B	.;.;.	.;.;.	0.358901	0.07319	3.929	0.55278752470472881	0.05309	0.00628	0.02764	N	AEFGBHCIJ	0.022585	0.01147	N	-1.53062669744398	0.01651	0.07222887	-1.63151028941852	0.01474	0.06670821	0.999999997626916	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.67	-4.55	0.03197	-0.735000	0.04992	0.688000	0.20738	-0.870000	0.02561	0.000000	0.06391	0.120000	0.22892	0.001000	0.02609	0.3067:0.2297:0.2396:0.224	0.223	0.00159	988	0.01987	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	468.98	33	chr18	68714963	.	A	G	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=759;ExcessHet=0.0000;FS=3.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=0.714;SOR=1.362	GT:AD:DP:GQ:PL	0/1:40,21:61:99:483,0,959	20	0	1	0
chr18	75208954	75208954	C	A	exonic	ZADH2	.	nonsynonymous SNV	ZADH2:NM_175907:exon1:c.G105T:p.K35N,	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.991	D	0.752	P	0.001	D	1.000	D	2.455	M	3.31	T	-1.085	T	0.010	T	0.23	4.424	23.5	3.26	1.496	6.393	12.858	0.192	.	0.0003	0.013778	0.0065	0.0011	0.0008	0.0560	0.0093	0.0006	0.0041	0.0082	0.004075	630	154602	rs200888830	0.0017	0.0018	0.0016	0.0019	0.0307	0.0017	0.0017	0.0292	0.0286	0.0005	0.0004	3.907e-05	0.0307	0.0038	0.0026	0.0002	0.0075	0.0057	0.0028	0.0028	0.0024	0.0033	0.0471	0.0026	0.0025	0.0422	0.0403	0.0009	0	0.0010	0	0.0471	0.0054	0.0034	0.0003	0.0076	0.0079	0.003	0.68238	D	0.007	0.69154	D	0.991	0.64070	D	0.752	0.56092	P	0.000638	0.42799	D	0.152042	0.99996	0.52935	D	.	.	.	3.31	0.06291	T	-3.41	0.67129	D	0.497	0.53006	-1.0853	0.06353	T	0.010	0.03856	T	10	0.007075429	0.00161	T	.	.	.	0.192	0.47115	0.61	0.74300	0.134241683229	0.13084	0.703187041522671	0.70259	0.337990986276	0.35776	0.818784475327	0.84842	D	0.168701	0.51580	T	-0.524179	0.00416	T	-0.486994	0.23705	T	0.0272169682141044	0.01574	T	0.786321	0.42483	T	0.8265696	0.85665	0.5854493	0.75960	0.8265696	0.85667	0.5854493	0.75960	-9.258	0.69343	D	.	.	0.877	0.81313	P	.	.	4.564313	0.71947	25.8	0.99682475032962647	0.79373	0.91184	0.53025	D	ALL	0.741539	0.68544	D	0.429428809927551	0.63048	4.531126	0.351772511309641	0.58615	4.033028	0.999999999987488	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	3.26	3.26	0.36471	5.151000	0.64720	1.710000	0.28189	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	12.858	0.57287	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1184.98	33	chr18	75208954	.	C	A	1184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.089e+00;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.299;SOR=0.726	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1199,0,914	20	0	1	0
chr18	76379991	76379991	T	C	exonic	ZNF516	.	nonsynonymous SNV	ZNF516:NM_014643:exon4:c.A2123G:p.E708G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.007	B	0.007	B	0.011	N	0.810	N	.	.	2.84	T	-1.096	T	0.024	T	0.236	2.420	14.05	4.55	1.905	3.317	12.642	0.049	0.00203432340668	.	0.000199681	8.289e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs566448035	9.578e-06	9.577e-06	1.089e-05	8.252e-06	0.0003	5.56e-06	4.35e-06	0.0002	0.0001	0	0	0	0.0003	0	0	2.698e-06	0	0	6.564e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.12	0.27904	T	0.318	0.19246	T	0.007	0.14184	B	0.007	0.12992	B	0.011068	0.29673	N	0.290655	0.809537	0.29018	N	.	.	.	2.84	0.10674	T	-2.96	0.61722	D	0.384	0.42541	-1.0961	0.04597	T	0.024	0.10239	T	9	0.067313135	0.09359	T	0.002034	0.03695	T	0.049	0.13647	0.147	0.05039	0.166414681773	0.16258	0.10839615013655496	0.10768	0.162778715944	0.18374	0.376499027014	0.21759	T	0.119669	0.44136	T	-0.464352	0.00923	T	-0.574784	0.15013	T	0.0955492530064821	0.11861	T	0.611839	0.23263	T	0.11456827	0.27046	0.09201079	0.21664	0.11456827	0.27045	0.09201079	0.21663	-2.651	0.06901	T	.	.	0.098	0.16275	B	.	.	1.680002	0.21411	15.19	0.98798905810826099	0.46413	0.93938	0.59628	D	AEFDBI	0.210246	0.33615	N	-0.382573381425501	0.26091	1.421243	-0.345524401217013	0.26648	1.473257	0.999980501609641	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.699875	0.68795	0	.	.	4.55	4.55	0.55429	2.688000	0.46651	0.942000	0.22859	0.665000	0.62972	0.920000	0.31959	0.159000	0.23246	0.003000	0.05239	0.0:0.0:0.0:1.0	12.642	0.56073	991	0.01385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2195.98	33	chr18	76379991	.	T	C	2195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.940e-01;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.390e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:82,79:161:99:2210,0,2234	20	0	1	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	D	-0.06	N	-0.34	T	-1.000	T	0.106	T	0.201	-0.358	2.310	3.71	0.793	5.868	10.024	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2308	1270.66	37	chr18	79373903	.	A	G	1270.66	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-1.120e+00;DP=912;ExcessHet=2.0135;FS=176.158;InbreedingCoeff=-0.3148;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=0.253;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,9:41:25:0|1:79373902_C_T:25,0,1016:79373902	7	0	6	8
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.354	B	0.097	B	0.000	D	1.000	D	2.775	M	-0.78	T	-0.794	T	0.230	T	0.523	1.377	10.53	-2.28	-0.455	-0.373	8.239	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	2387.64	32	chr18	79373905	.	C	G	2387.64	.	AC=10;AF=0.500;AN=20;BaseQRankSum=2.00;DP=837;ExcessHet=9.8992;FS=418.465;InbreedingCoeff=-0.4008;MLEAC=16;MLEAF=0.800;MQ=60.00;MQRankSum=0.00;QD=6.15;ReadPosRankSum=1.06;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,17:41:99:0|1:79373902_C_T:413,0,777:79373902	0	0	10	11
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.019	B	0.031	B	0.000	D	1.000	D	0.325	N	-1.0	T	-0.993	T	0.086	T	0.404	1.590	11.27	3.95	2.415	0.944	7.951	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,17,0:41:99:0|1:79373902_C_T:413,0,777,485,827,1312:79373902	4	0	7	9
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.682	P	0.361	B	0.000	D	1.000	D	0.83	L	-1.06	T	-0.935	T	0.119	T	0.428	2.268	13.54	3.95	2.415	0.944	7.951	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,17,0:41:99:0|1:79373902_C_T:413,0,777,485,827,1312:79373902	4	0	7	9
chr19	434722	434722	G	A	exonic	SHC2	.	nonsynonymous SNV	SHC2:NM_012435:exon8:c.C1097T:p.T366M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.475	P	0.069	B	0.257	N	1.000	N	0.695	N	1.69	T	-0.992	T	0.043	T	0.139	-0.599	1.322	0.665	0.104	0.068	10.269	0.036	0.0922560984634	.	0.000199681	5.183e-05	0	0	0.0007	0	0	0	0	4.53e-05	7	154602	rs189392115	1.715e-05	2.052e-05	1.638e-05	1.792e-05	0.0004	1.177e-05	9.95e-06	0.0002	0.0002	0	6.748e-05	0	0.0004	0	0	3.6e-06	1.659e-05	2.326e-05	3.284e-05	3.281e-05	0	6.716e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	2.407e-05	0	0	0	0.0008	0	0	0	0	0	0.102	0.30235	T	0.118	0.36233	T	0.475	0.36638	P	0.069	0.27757	B	0.257002	0.03684	N	1.628900	1	0.08975	N	1.04	0.26193	L	1.69	0.27032	T	-1.26	0.31778	N	0.132	0.12770	-0.9924	0.31985	T	0.043	0.18535	T	10	0.03771755	0.02143	T	0.092256	0.75859	D	0.036	0.09122	0.272	0.22210	0.358744678677	0.35482	0.3046566367448712	0.30378	0.213371676131	0.23852	0.540926218033	0.44576	T	0.345847	0.71418	T	-0.552777	0.00281	T	-0.654748	0.08625	T	0.0369159452645519	0.03140	T	0.309269	0.05988	T	0.014458516	0.00094	0.033749487	0.02321	0.014458516	0.00094	0.033749487	0.02321	-5.012	0.36970	T	.	.	0.078	0.06663	B	.	.	1.919070	0.24375	16.37	0.95009460544217705	0.25979	0.03562	0.08769	N	AEFDBI	0.120114	0.23414	N	-1.01120951189196	0.08370	0.3922318	-1.10351492682537	0.07633	0.3720389	1.25858193895616E-5	0.02871	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.755437	0.99637	0	.	.	3.06	0.665	0.17066	-0.189000	0.09625	0.898000	0.22526	-1.077000	0.01579	0.000000	0.06391	0.002000	0.18203	0.005000	0.06747	0.0:0.7188:0.2812:0.0	10.269	0.42654	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1424.98	33	chr19	434722	.	G	A	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.162;DP=790;ExcessHet=0.0000;FS=0.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.38;ReadPosRankSum=1.32;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,58:87:99:1|0:434718_G_A:1439,0,1045:434718	20	0	1	0
chr19	501742	501742	-	CC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.741_742insCC:p.S248Pfs*59,	.	.	618	902	2	0	0	2	0.00110742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.949e-05	0.0002	9.168e-05	0.0002	0	8.175e-05	0	0	6.47e-05	10	154602	rs753094852	0.0041	0.0060	0.0035	0.0048	0.0164	0.0040	0.0040	0.0157	0.0154	0.0020	0.0061	0.0040	0.0116	0.0038	0.0014	0.0030	0.0050	0.0164	0.0052	0.0086	0.0053	0.0052	0.0168	0.0049	0.0048	0.0139	0.0129	0.0037	0.0034	0.0049	0.0044	0.0168	0.0050	0.0141	0.0053	0.0059	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	788.94	76	chr19	501742	.	G	GCC	788.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=1349;ExcessHet=0.0000;FS=2.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.43;MQRankSum=0.135;QD=14.89;ReadPosRankSum=-1.047e+00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:25,28:53:99:803,0,750	20	0	1	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,22,0,28:50:99:.:.:2869,974,809,2359,977,2296,824,0,871,747	1	10	5	0
chr19	1775438	1775438	A	C	exonic	ONECUT3	.	nonsynonymous SNV	ONECUT3:NM_001080488:exon2:c.A1478C:p.K493T,	.	.	338	1181	3	0	0	3	0.0012685	.	.	2679474	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.023	B	0.012	B	0.000	U	0.976	D	1.735	L	0.55	T	-0.909	T	0.133	T	0.257	2.120	13.05	2.85	0.927	3.432	8.801	0.080	0.793201225396	.	.	0.0007	0	0	0	0	0	0	0.0012	5.82e-05	9	154602	rs768785995	0.0001	0.0001	8.955e-05	0.0001	0.0014	9.787e-05	9.224e-05	0.0012	0.0011	0	0.0002	4.561e-05	0	2.167e-05	0.0005	2.551e-05	0.0003	0.0014	5.274e-05	5.255e-05	0	0.0001	0.0008	2.564e-05	1.835e-05	0.0003	0.0002	0	0	6.545e-05	0	0	0	0	2.949e-05	0.0005	0.0008	0.002	0.72154	D	0.005	0.72224	D	0.023	0.18885	B	0.012	0.16012	B	0.000002	0.62929	U	0.000000	0.976209	0.39255	D	1.935	0.51832	L	0.55	0.54728	T	-3.17	0.64363	D	0.166	0.17553	-0.9089	0.46989	T	0.133	0.44622	T	10	0.04985267	0.04634	T	0.793201	0.98378	D	0.080	0.23350	0.253	0.19223	0.440394187108	0.43661	.	.	.	.	0.906840026379	0.97162	D	0.027266	0.20004	T	-0.394115	0.02530	T	-0.379428	0.35789	T	0.179489350327411	0.19203	T	0.390061	0.09662	T	0.5458523	0.69724	0.50421035	0.71342	0.5458523	0.69725	0.50421035	0.71342	-11.355	0.81569	D	.	.	0.856	0.80112	P	.	.	3.815295	0.55062	23.6	0.99246970969337067	0.56727	0.85195	0.44307	D	AEFDGBI	0.162971	0.28920	N	-0.293624023171245	0.29394	1.629628	-0.242590276681425	0.30028	1.687196	0.997896996105775	0.36162	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.85	2.85	0.32333	3.432000	0.52590	7.298000	0.58079	0.608000	0.46601	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	1.0:0.0:0.0:0.0	8.801	0.34071	988	0.01987	.	.	.	.	.	.	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	0.02381	306.98	26	chr19	1775438	.	A	C	306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.573e+00;DP=512;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.05;ReadPosRankSum=-8.160e-01;SOR=0.387	GT:AD:DP:GQ:PL	0/1:7,11:18:99:321,0,241	20	0	1	0
chr19	3869001	3869001	T	C	exonic	ZFR2	.	nonsynonymous SNV	ZFR2:NM_001145640:exon1:c.A17G:p.Y6C	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.878	P	.	.	1.000	N	0.895	L	2.58	T	-0.952	T	0.073	T	0.167	0.505	6.740	-6.05	-0.692	-0.596	11.038	0.072	.	0.0027	0.000199681	0.0060	0	0	0	.	0.0115	0	0.0034	0.0005886	91	154602	rs199514567	0.0042	0.0038	0.0042	0.0042	0.0044	0.0041	0.0040	0.0043	0.0043	0.0006	0.0020	0.0085	0	0.0070	0.0013	0.0044	0.0036	0.0012	0.0031	0.0031	0.0032	0.0031	0.0043	0.0029	0.0028	0.0039	0.0037	0.0008	0.0088	0.0021	0.0081	0	0.0071	0	0.0043	0.0019	0.0006	0.002	0.72154	D	0.004	0.74150	D	0.992	0.67487	D	0.737	0.62312	P	.	.	.	.	1	0.18612	N	0.66	0.16226	N	2.58	0.13434	T	-2.7	0.98093	D	0.099	0.12913	-0.9518	0.40660	T	0.073	0.29547	T	9	0.0040760934	0.00080	T	.	.	.	0.072	0.21020	.	.	0.141422826196	0.13715	0.6056630266976566	0.60497	0.0898818608741	0.10143	0.59149569273	0.51705	T	0.080179	0.36302	T	-0.617924	0.00113	T	-0.659291	0.08315	T	0.0609157743615174	0.07311	T	0.441056	0.12198	T	0.10784477	0.25500	0.1999572	0.43903	0.10784477	0.25500	0.1999572	0.43902	-8.06	0.61479	D	.	.	0.119	0.39477	B	.;.	.;.	0.408244	0.07791	4.481	0.82989809910937551	0.14483	0.01548	0.05077	N	AEDBHCIJ	0.033121	0.03870	N	-0.946184240072443	0.09779	0.4643152	-1.23135530970711	0.05413	0.2578587	0.999264644894886	0.38940	0.582742	0.33608	0	0.59043	0.45803	0	0.52208	0.10781	0	0.620976	0.48614	0	.	.	3.03	-6.05	0.01988	-1.869000	0.01735	-2.699000	0.03454	-2.097000	0.00396	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.7465:0.2535	11.038	0.47033	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	0.02381	146.98	23	chr19	3869001	.	T	C	146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.160e-01;DP=648;ExcessHet=0.0000;FS=1.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.65;ReadPosRankSum=2.45;SOR=0.677	GT:AD:DP:GQ:PL	0/1:17,9:26:99:161,0,420	20	0	1	0
chr19	5151504	5151504	C	T	exonic	KDM4B	.	nonsynonymous SNV	KDM4B:NM_015015:exon23:c.C3284T:p.P1095L,	.	YES	.	.	.	.	.	.	.	.	.	971283	Neurodevelopmental_delay|Intellectual_developmental_disorder,_autosomal_dominant_65	Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738|MONDO:MONDO:0023657,MedGen:C5543371,OMIM:619320	no_assertion_criteria_provided	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	0.997	D	0.991	D	0.022	N	1.000	D	1.1	L	2.19	T	-1.086	T	0.083	T	0.442	3.778	19.18	3.27	2.122	1.565	10.303	0.095	0.313146367017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.021686	0.26783	N	0.313960	0.998953	0.45755	D	.	.	.	2.19	0.19020	T	-2.8	0.59226	D	0.126	0.11912	-1.0859	0.06245	T	0.083	0.32700	T	10	0.243525	0.41568	T	0.313146	0.91247	D	0.095	0.27398	0.252	0.19067	0.151262610727	0.14761	0.3656096589815389	0.36474	0.54485426869	0.51528	0.572288036346	0.49002	T	0.022492	0.20499	T	-0.114135	0.34087	T	-0.401724	0.33183	T	0.939388811588287	0.61080	D	0.644736	0.25952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22609	B	.;.;.	.;.;.	4.626180	0.73504	26.0	0.99873781487961155	0.95076	0.49406	0.28426	N	AEFDBCI	0.110093	0.21845	N	0.253827910543076	0.53829	3.550184	0.2101876502835	0.50411	3.233517	0.973685540487094	0.29477	0.634777	0.41761	0	0.643519	0.57511	0	0.26897	0.05253	2	0.699875	0.68795	0	.	.	3.27	3.27	0.36580	2.327000	0.43517	2.570000	0.33360	0.584000	0.30380	0.987000	0.36337	0.030000	0.21233	0.930000	0.46718	0.0:1.0:0.0:0.0	10.303	0.42844	969	0.06854	.;.;.	.	.	.	.	.	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	0.02381	281.98	38	chr19	5151504	.	C	T	281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.045;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.88;ReadPosRankSum=1.49;SOR=0.601	GT:AD:DP:GQ:PL	0/1:27,14:41:99:296,0,701	20	0	1	0
chr19	7622621	7622621	T	A	exonic	XAB2	.	nonsynonymous SNV	XAB2:NM_020196:exon11:c.A1412T:p.D471V,	.	.	417	1103	2	0	0	2	0.000905797	.	.	2352180	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.609	P	0.168	B	0.000	D	1.000	D	2.765	M	2.03	T	-0.994	T	0.071	T	0.837	2.694	14.97	4.2	1.769	3.859	12.403	0.248	0.0913439866279	.	.	4.184e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs771900837	2.397e-05	2.394e-05	1.499e-05	3.304e-05	0.0004	1.741e-05	1.541e-05	0.0003	0.0003	0	0	0	0	0	0	0	0	0.0004	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	0.001	0.78490	D	0.007	0.69154	D	0.609	0.39586	P	0.168	0.35187	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	2.03	0.20959	T	-6.81	0.92942	D	0.584	0.60495	-0.9937	0.31643	T	0.071	0.28773	T	10	0.5213645	0.62661	D	0.091344	0.75690	D	0.248	0.55615	0.483	0.56462	0.40959786005	0.40575	0.8387059325864347	0.83830	0.926301182965	0.71654	0.750211596489	0.74477	T	0.604649	0.87380	D	-0.0754137	0.40458	T	-0.029947	0.68372	D	0.518277049064636	0.33302	D	0.951205	0.81406	D	0.77058357	0.82083	0.44387317	0.67588	0.77058357	0.82085	0.44387317	0.67589	-4.525	0.31214	T	.	.	0.8	0.77283	P	.	.	3.703236	0.52832	23.3	0.9879064610672913	0.46285	0.93346	0.57971	D	AEFBCI	0.590326	0.58686	D	0.0769890272886148	0.45392	2.796432	0.0236872618135908	0.40816	2.442062	0.99999999574274	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.2	4.2	0.48814	2.103000	0.41430	4.906000	0.45906	0.665000	0.62972	0.988000	0.36536	1.000000	0.68203	0.193000	0.21690	0.0:0.0:0.0:1.0	12.403	0.54758	851	0.35303	.	.	.	.	.	.	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	0.02381	2353.98	35	chr19	7622621	.	T	A	2353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=967;ExcessHet=0.0000;FS=3.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=0.257;SOR=0.782	GT:AD:DP:GQ:PL	0/1:72,85:157:99:2368,0,1746	20	0	1	0
chr19	7730841	7730841	T	A	exonic	CLEC4G	.	nonsynonymous SNV	CLEC4G:NM_001244856:exon5:c.A266T:p.Q89L	.	.	636	861	20	5	0	30	0.0171233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.001	B	0.063	N	1.000	N	0.625	N	5.39	T	-0.902	T	0.003	T	0.252	1.034	9.225	1.92	0.674	0.026	2.824	0.021	.	.	0.0101837	0.0229	0.0053	0	0	0	0.0082	0.0082	0.0303	0.0031953	494	154602	rs36064197	0.0097	0.0093	0.0089	0.0105	0.0289	0.0096	0.0095	0.0279	0.0275	0.0016	0.0032	0.0032	0	0.0140	0.0148	0.0091	0.0084	0.0289	0.0077	0.0077	0.0073	0.0081	0.0292	0.0073	0.0071	0.0253	0.0238	0.0019	0	0.0033	0.0026	0	0.0172	0.0274	0.0100	0.0061	0.0292	0.163	0.23450	T	0.318	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.062862	0.22066	N	0.233416	1	0.08975	N	1.355	0.33814	L	5.39	0.01025	T	-2.44	0.53420	N	0.13	0.12484	-0.9024	0.47739	T	0.003	0.00929	T	10	0.003191352	0.00054	T	.	.	.	0.021	0.04004	.	.	.	.	0.281461959459011	0.28059	0.475177538353	0.46692	0.34300673008	0.16888	T	0.034478	0.23338	T	-0.613224	0.00121	T	-0.631318	0.10315	T	0.000717836883073348	0.00006	T	0.447355	0.12562	T	0.084376894	0.19527	0.077011086	0.17113	0.084376894	0.19527	0.077011086	0.17112	-4.601	0.32184	T	.	.	0.071	0.18828	B	.;.	.;.	1.426226	0.18436	13.74	0.73743340794885404	0.10439	0.01741	0.05494	N	AEFDBHI	0.067515	0.13275	N	-0.925637646405639	0.10245	0.4886584	-0.948569541555381	0.10956	0.5552066	0.992607985525564	0.32901	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.03	1.92	0.24912	0.209000	0.17231	1.305000	0.25500	0.640000	0.52149	0.012000	0.18695	0.684000	0.26137	0.028000	0.12845	0.2408:0.1198:0.0:0.6394	2.824	0.05143	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	521.11	23	chr19	7730841	.	T	A	521.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.95;DP=574;ExcessHet=0.1072;FS=1.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.78;MQRankSum=0.00;QD=9.47;ReadPosRankSum=1.99;SOR=1.022	GT:AD:DP:GQ:PL	0/1:21,11:32:99:301,0,572	19	0	2	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	0.996	N	0	N	.	.	-0.998	T	0.035	T	0.085	0.963	8.927	0.534	0.295	1.986	5.982	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	769.34	89	chr19	7871678	.	G	C	769.34	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-3.686e+00;DP=1708;ExcessHet=6.1002;FS=184.238;InbreedingCoeff=-0.3275;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=0.814;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,12:66:52:0|1:7871678_G_C:52,0,1850:7871678	10	0	10	1
chr19	7871679	7871679	T	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.A1565G:p.D522G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	.	.	.	.	.	.	1.000	D	0	N	.	.	-1.102	T	0.070	T	0.132	1.195	9.854	1.35	0.508	-0.021	8.062	0.017	0.0117926730478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.923e-05	0.0022	3.806e-05	4.042e-05	6.459e-05	3.06e-05	2.775e-05	3.664e-05	3.306e-05	6.459e-05	0	0	0	0	0	4.763e-05	1.762e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.21411	T	.	.	.	.	.	.	.	.	.	.	0.999236	0.21473	N	.	.	.	.	.	.	.	.	.	0.157	0.16308	-1.1021	0.03846	T	0.070	0.28511	T	6	0.064407915	0.08537	T	0.011793	0.29763	T	.	.	.	.	0.0297737177859	0.01360	0.13029884274010206	0.12954	.	.	0.371050000191	0.20983	T	0.014	0.12071	T	-0.203166	0.20349	T	-0.529611	0.19324	T	0.0422498770598029	0.04101	T	0.416558	0.10945	T	0.0437944	0.06888	0.05439061	0.09347	0.0437944	0.06888	0.05439061	0.09347	-2.886	0.09004	T	.	.	0.301	0.53087	B	.	.	2.067708	0.26296	17.07	0.72018066111299484	0.09827	0.06998	0.13024	N	ALL	.	.	.	-0.848398345689186	0.12089	0.5871903	-0.929969797100409	0.11389	0.5799016	0.999999999887838	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	1.35	0.21078	0.356000	0.19918	-0.015000	0.13005	0.597000	0.34315	0.062000	0.21832	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.5332:0.4668	8.062	0.29799	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	53.12	42	chr19	7871679	.	T	C	53.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.234e+00;DP=1130;ExcessHet=0.1072;FS=108.449;InbreedingCoeff=-0.0505;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.41;ReadPosRankSum=0.137;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,12:66:52:0|1:7871678_G_C:52,0,1850:7871678	19	0	2	0
chr19	8888733	8888733	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40766G:p.D13589G,	.	.	394	1124	2	2	0	6	0.00266193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.982	D	0.968	D	.	.	.	.	2.395	M	1.09	T	-0.651	T	0.212	T	0.393	1.662	11.51	2.45	0.542	0.611	5.345	0.044	0.0236134229931	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796460354	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.833e-05	0.0030	1.791e-05	1.877e-05	9.259e-05	3.04e-06	1.14e-06	.	.	3.401e-05	0	9.259e-05	0	0	0	0	0	0	0	0.019	0.50132	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	1.09	0.39223	T	-1.59	0.38345	N	0.407	0.44761	-0.6514	0.62653	T	0.212	0.57321	T	8	0.20552856	0.36782	T	0.023613	0.46578	T	0.128	0.35103	.	.	0.146414634003	0.14194	0.19770301623938222	0.19687	.	.	0.299555659294	0.10335	T	.	.	.	-0.119382	0.33225	T	-0.409261	0.32310	T	0.348448395729065	0.26958	T	0.735226	0.35154	T	.	.	.	.	.	.	.	.	-7.689	0.58931	D	.	.	0.133	0.28664	B	.	.	1.835629	0.23322	15.97	0.9959769039303753	0.73983	0.08628	0.14530	N	AEFBI	0.055099	0.10074	N	-0.264095193715853	0.30545	1.704151	-0.390882496758417	0.25267	1.388531	2.4161992490188E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	2.45	0.28953	0.202000	0.17094	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.0:0.1363:0.0:0.8637	5.345	0.15307	952	0.10565	SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	512.83	332	chr19	8888733	.	T	C	512.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.43;DP=8357;ExcessHet=0.3300;FS=1.030;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=55.95;MQRankSum=-8.927e+00;QD=0.36;ReadPosRankSum=-4.902e+00;SOR=1.024	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:453,36:489:99:0|1:8888733_T_C:148,0,18833:8888733	16	0	3	2
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I,	.	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.984	D	0.964	D	.	.	.	.	0.49	N	2.21	T	-1.029	T	0.047	T	0.503	2.024	12.72	1.25	0.783	0.218	4.503	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2778	8877.76	382	chr19	8888745	.	G	A,C	8877.76	.	AC=6,4;AF=0.167,0.111;AN=36;BaseQRankSum=-3.070e-01;DP=10156;ExcessHet=6.1002;FS=0.787;InbreedingCoeff=-0.3771;MLEAC=7,4;MLEAF=0.194,0.111;MQ=56.21;MQRankSum=-1.029e+01;QD=1.61;ReadPosRankSum=-1.286e+00;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:425,38,12:475:99:.:.:219,0,18762,1208,14616,15500	8	0	6	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P,	.	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.964	D	.	.	.	.	1.04	L	1.83	T	-0.975	T	0.078	T	0.685	2.193	13.29	1.26	0.083	0.610	2.783	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	3176.11	382	chr19	8888746	.	T	G	3176.11	.	AC=7;AF=0.194;AN=36;BaseQRankSum=0.772;DP=10365;ExcessHet=2.5830;FS=7.108;InbreedingCoeff=-0.2519;MLEAC=8;MLEAF=0.222;MQ=55.81;MQRankSum=-1.024e+01;QD=0.81;ReadPosRankSum=-3.634e+00;SOR=1.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:455,38:493:99:0|1:8888733_T_C:226,0,18958:8888733	11	0	7	3
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I,	.	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.964	D	.	.	.	.	2.79	M	1.22	T	-0.601	T	0.206	T	0.319	0.402	6.184	0.756	0.311	2.938	8.036	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5532.55	398	chr19	8888763	.	G	A	5532.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-8.400e-01;DP=10822;ExcessHet=2.5830;FS=10.808;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=55.93;MQRankSum=-8.753e+00;QD=1.32;ReadPosRankSum=-9.860e-01;SOR=1.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:453,42:495:99:0|1:8888763_G_A:394,0,18854:8888763	14	0	7	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R,	.	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.918	P	0.884	P	.	.	.	.	2.455	M	1.54	T	-0.672	T	0.209	T	0.143	0.603	7.250	1.93	0.542	-0.004	4.795	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	5178.17	410	chr19	8888772	.	T	C	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-7.350e-01;DP=11084;ExcessHet=1.1607;FS=20.381;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=55.59;MQRankSum=-8.634e+00;QD=1.74;ReadPosRankSum=0.031;SOR=2.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:459,41:500:99:0|1:8888763_G_A:340,0,19150:8888763	15	0	5	1
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:248,66,40,1:372:99:.:.:2495,0,10445,1092,8964,11615,3334,10520,11611,14762	0	0	17	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1541.22	352	chr19	8888826	.	T	*,TCCGA	1541.22	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=2.89;DP=8436;ExcessHet=43.6797;FS=10.909;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.52;MQRankSum=-9.389e+00;QD=0.19;ReadPosRankSum=0.933;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,64,40:359:99:0|1:8888826_T_*:1920,0,10515,1008,9028,11595:8888826	1	0	19	0
chr19	8888876	8888876	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.T40623G:p.D13541E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.974	D	0.981	D	.	.	.	.	1.87	L	0.93	T	-0.870	T	0.138	T	0.106	1.808	12.01	1.34	0.110	-2.020	5.128	0.020	0.0184576829843	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	.	5.187e-06	0.0002	1.454e-06	9.063e-06	7.562e-05	2.16e-06	1.39e-06	2.908e-05	1.903e-05	0	0	0	0	0	0	1.894e-06	0	7.562e-05	6.798e-06	0.0010	1.324e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.43708	D	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.43	0.14390	N	0.28	0.31702	-0.8696	0.50559	T	0.138	0.45451	T	8	0.102479935	0.18784	T	0.018458	0.40531	T	0.039	0.10176	.	.	0.258283824007	0.25425	0.03204328302232783	0.03152	.	.	0.32660266757	0.14420	T	.	.	.	-0.294743	0.09164	T	-0.661154	0.08189	T	0.18441400232506	0.19509	T	0.513049	0.16451	T	.	.	.	.	.	.	.	.	-7.397	0.56883	T	.	.	0.179	0.38959	B	.	.	0.370493	0.07427	4.059	0.97250488420208558	0.33038	0.04086	0.09547	N	AEFDBI	0.058217	0.10907	N	-0.810373198274173	0.13044	0.6399203	-0.987335908183308	0.10069	0.5048391	7.79589708737315E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	1.34	0.21018	-1.962000	0.01605	.	.	0.710000	0.85309	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.7372:0.0:0.2628:0.0	5.128	0.14225	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1768.1	212	chr19	8888876	.	AT	A,CT	1768.1	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=4.52;DP=5111;ExcessHet=1.7912;FS=20.289;InbreedingCoeff=-0.1690;MLEAC=3,3;MLEAF=0.071,0.071;MQ=57.83;MQRankSum=-6.910e-01;QD=1.13;ReadPosRankSum=0.837;SOR=3.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:180,17,18:215:21:.:.:193,21,7514,0,6835,7798	15	0	3	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H,	.	.	419	985	117	1	0	119	0.0569651	.	.	3206446	MUC16-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.289	B	0.104	B	.	.	.	.	0.85	L	4.62	T	-0.937	T	0.005	T	0.187	-0.708	0.946	-2.32	-0.921	-3.230	2.997	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	2350.15	47	chr19	8900017	.	C	G	2350.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.351;DP=3884;ExcessHet=11.8493;FS=0.993;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=59.12;MQRankSum=-1.468e+01;QD=0.70;ReadPosRankSum=1.95;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,20:260:99:0|1:8900009_C_T:117,0,10006:8900009	8	0	13	0
chr19	8908599	8908599	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37612G:p.T12538A,	.	.	429	1090	3	0	0	3	0.00137426	0	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	.	.	-0.685	N	1.69	T	-0.958	T	0.019	T	0.054	-0.078	3.620	-1.03	0.049	0.084	4.299	0.016	0.00112796486292	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1292275692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.331e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.69	0.27032	T	-0.45	0.14782	N	0.116	0.10483	-0.9581	0.39534	T	0.019	0.07753	T	7	0.071532875	0.10556	T	0.001128	0.01385	T	0.016	0.02506	0.249	0.18602	0.0297737177859	0.01360	0.08480375160435995	0.08414	.	.	0.244860142469	0.03246	T	.	.	.	-0.374715	0.03362	T	-0.776029	0.02575	T	0.0510332249104977	0.05680	T	0.138886	0.01109	T	.	.	.	.	.	.	.	.	-5.524	0.42092	T	.	.	0.069	0.02993	B	.	.	0.253012	0.06321	2.781	0.42206208933571693	0.03095	0.00009	0.00143	N	AEFBI	0.011238	0.00095	N	-1.58080858776645	0.01363	0.05940262	-1.61877208500018	0.01545	0.07001183	9.87328335879298E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.03	0.09586	0.325000	0.19374	.	.	-0.528000	0.04966	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.7516:0.0:0.2484	4.299	0.10357	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	207.3	203	chr19	8908599	.	T	C	207.3	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.18;DP=2977;ExcessHet=0.0000;FS=73.771;InbreedingCoeff=-0.0742;MLEAC=1;MLEAF=0.028;MQ=59.18;MQRankSum=-7.598e+00;QD=1.15;ReadPosRankSum=1.34;SOR=6.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,17:181:99:0|1:8908590_A_G:220,0,6835:8908590	17	0	1	3
chr19	8908602	8908602	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37609A:p.A12537T,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	0	N	1.39	T	-1.043	T	0.040	T	0.032	0.559	7.025	1.42	0.029	-0.125	3.410	0.025	0.00131490758785	.	.	4.182e-05	0.0001	0	0.0001	0	1.508e-05	0	0.0001	0.0001552	24	154602	rs138748436	4.107e-05	4.104e-05	3.95e-05	4.266e-05	0.0004	3.247e-05	2.921e-05	0.0003	0.0002	0.0004	0	0	0.0001	0	0.0002	3.24e-05	3.316e-05	2.32e-05	0.0001	0.0001	0.0002	5.568e-05	0.0003	7.282e-05	6.004e-05	0.0002	0.0002	0.0003	0	6.974e-05	0	0	0	0	4.448e-05	0	0	0.545	0.06691	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.37	0.03639	N	0.078	0.05287	-1.0434	0.16294	T	0.040	0.17404	T	8	0.03682396	0.02000	T	0.001315	0.01834	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.061949370351122544	0.06134	.	.	0.279441058636	0.07415	T	.	.	.	-0.624425	0.00103	T	-0.804718	0.01787	T	0.00817964850258335	0.00098	T	0.242476	0.03503	T	.	.	.	.	.	.	.	.	1.346	0.00095	T	.	.	0.065	0.01834	B	.	.	0.570840	0.09394	6.173	0.33756429216317418	0.02028	0.00011	0.00159	N	AEFBI	0.008518	0.00040	N	-1.36706097997437	0.02952	0.131134	-1.41654224597646	0.03086	0.1432886	1.09906045987142E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.018000	0.13315	.	.	-0.524000	0.04973	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.238:0.0:0.762	3.410	0.06930	934	0.15400	.	.	.	.	.	.	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	0.03125	199.63	201	chr19	8908602	.	C	T	199.63	.	AC=1;AF=0.031;AN=32;BaseQRankSum=5.36;DP=2980;ExcessHet=0.0000;FS=74.043;InbreedingCoeff=-0.1147;MLEAC=1;MLEAF=0.031;MQ=59.18;MQRankSum=-7.546e+00;QD=1.08;ReadPosRankSum=1.78;SOR=6.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,17:184:99:0|1:8908590_A_G:211,0,6961:8908590	15	0	1	5
chr19	8908604	8908604	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.C37607A:p.P12536H,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.815	P	.	.	.	.	2.39	M	4.57	T	-1.063	T	0.019	T	0.196	-0.065	3.685	1.42	1.067	1.439	6.239	0.052	0.00113280189862	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893065310	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.64e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	-1.42	0.34992	N	0.247	0.27910	-1.0628	0.11069	T	0.019	0.07846	T	8	0.14153516	0.26892	T	0.001133	0.01385	T	0.052	0.14661	0.277	0.23004	0.132336055621	0.12781	0.14758051324810698	0.14680	.	.	0.238620921969	0.02667	T	.	.	.	-0.253738	0.13642	T	-0.602254	0.12622	T	0.173418819904327	0.18810	T	0.154585	0.01346	T	.	.	.	.	.	.	.	.	-9.732	0.72291	D	.	.	0.113	0.22391	B	.	.	1.099813	0.14844	11.37	0.28530878413675936	0.01469	0.04269	0.09804	N	AEFBI	0.025387	0.01729	N	-0.227180045193329	0.32022	1.801572	-0.531142575380632	0.21310	1.152163	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	1.286000	0.32877	.	.	0.360000	0.20082	0.003000	0.16062	0.008000	0.19753	0.008000	0.08271	0.0:0.0:1.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	166.11	203	chr19	8908604	.	G	T	166.11	.	AC=1;AF=0.031;AN=32;BaseQRankSum=3.50;DP=2979;ExcessHet=0.0000;FS=71.206;InbreedingCoeff=-0.0979;MLEAC=1;MLEAF=0.031;MQ=59.24;MQRankSum=-7.572e+00;QD=0.92;ReadPosRankSum=2.03;SOR=6.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,16:180:99:0|1:8908590_A_G:178,0,6838:8908590	15	0	1	5
chr19	8908608	8908608	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37603G:p.S12535G,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.039	B	0.021	B	.	.	.	.	0.97	L	4.44	T	-0.964	T	0.006	T	0.086	-0.244	2.823	-0.938	-0.401	1.012	4.293	0.017	0.00136832620583	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187553949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.33e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.323	0.13436	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.44	0.02139	T	-0.63	0.18459	N	0.212	0.23632	-0.9637	0.38468	T	0.006	0.02093	T	8	0.0662958	0.09070	T	0.001368	0.01986	T	0.017	0.02790	0.197	0.10975	0.0138822411134	0.00435	0.09901883307393754	0.09832	.	.	0.25038677454	0.03808	T	.	.	.	-0.353296	0.04524	T	-0.745261	0.03674	T	0.0603211808221808	0.07220	T	0.141186	0.01138	T	.	.	.	.	.	.	.	.	-9.901	0.73316	D	.	.	0.102	0.18037	B	.	.	1.349386	0.17571	13.24	0.28242686615049478	0.01441	0.00851	0.03397	N	AEFBI	0.024256	0.01472	N	-1.2564370111732	0.04215	0.1898217	-1.37586353734191	0.03511	0.163921	1.07308552085878E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-0.938	0.09882	0.886000	0.27878	.	.	0.353000	0.19991	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.4508:0.0:0.5492	4.293	0.10335	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	167.88	204	chr19	8908608	.	T	C	167.88	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=2992;ExcessHet=0.0000;FS=70.474;InbreedingCoeff=-0.0600;MLEAC=1;MLEAF=0.026;MQ=59.24;MQRankSum=-7.572e+00;QD=0.94;ReadPosRankSum=2.32;SOR=6.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,16:179:99:0|1:8908590_A_G:181,0,6796:8908590	18	0	1	2
chr19	8908619	8908619	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.T37592C:p.F12531S,	.	.	425	1082	15	0	0	15	0.00688389	.	.	3192351	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-2.3	N	4.61	T	-0.896	T	0.002	T	0.109	-0.128	3.374	-2.46	-0.725	-0.002	5.188	0.019	0.00202408868933	8.3e-05	.	8.342e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs377069963	3.422e-06	3.42e-06	1.362e-06	5.503e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.658e-05	0	1.352e-05	0.0001	1.315e-05	1.391e-05	2.978e-05	2.25e-06	8.4e-07	4.94e-06	1.85e-06	0	0	0	0	0	0	0	2.978e-05	0	0	0.067	0.35918	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.61	0.01851	T	-0.17	0.09627	N	0.101	0.08366	-0.8956	0.48427	T	0.002	0.00615	T	8	0.04995814	0.04658	T	0.002024	0.03668	T	0.019	0.03383	.	.	0.146414634003	0.14194	0.14281700225897295	0.14204	.	.	0.216673746705	0.01127	T	.	.	.	-0.366936	0.03752	T	-0.764855	0.02941	T	0.0528477553212313	0.05994	T	0.0760924	0.00560	T	.	.	.	.	.	.	.	.	2.702	0.00027	T	.	.	0.052	0.00225	B	.	.	0.670042	0.10384	7.110	0.39831540764915757	0.02773	0.00011	0.00159	N	AEFBI	0.011428	0.00101	N	-1.71979816171027	0.00774	0.03342962	-1.72525038677741	0.01030	0.04621079	2.48205843339707E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.46	0.06089	-0.340000	0.07868	.	.	-0.516000	0.04988	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.6127:0.0:0.3873:0.0	5.188	0.14517	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	95.89	215	chr19	8908619	.	A	G	95.89	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.332;DP=3441;ExcessHet=0.0000;FS=44.745;InbreedingCoeff=-0.1668;MLEAC=2;MLEAF=0.091;MQ=57.82;MQRankSum=-8.055e+00;QD=0.52;ReadPosRankSum=1.80;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,15:186:99:0|1:8908590_A_G:105,0,7058:8908590	10	0	1	10
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A,	.	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.982	D	.	.	.	.	1.825	L	4.5	T	-1.049	T	0.019	T	0.119	0.149	4.800	1.42	1.067	0.380	6.239	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1286.53	209	chr19	8908637	.	C	G	1286.53	.	AC=6;AF=0.167;AN=36;BaseQRankSum=2.54;DP=3325;ExcessHet=1.7912;FS=9.333;InbreedingCoeff=-0.2165;MLEAC=7;MLEAF=0.194;MQ=58.51;MQRankSum=-1.077e+01;QD=1.08;ReadPosRankSum=0.914;SOR=1.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,23:182:99:0|1:8908630_T_A:487,0,6574:8908630	12	0	6	3
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H,	.	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.553	P	0.146	B	.	.	.	.	1.115	L	4.53	T	-0.965	T	0.005	T	0.122	-0.518	1.634	-2.84	-0.932	-2.451	2.526	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1579	1251.42	202	chr19	8908644	.	C	G	1251.42	.	AC=6;AF=0.158;AN=38;BaseQRankSum=2.54;DP=3367;ExcessHet=1.7912;FS=9.055;InbreedingCoeff=-0.2014;MLEAC=6;MLEAF=0.158;MQ=58.24;MQRankSum=-1.070e+01;QD=1.05;ReadPosRankSum=1.39;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,23:179:99:0|1:8908630_T_A:496,0,6447:8908630	13	0	6	2
chr19	8955007	8955007	C	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.G21763T:p.V7255L,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.002	B	.	.	.	.	-0.895	N	4.27	T	-0.894	T	0.003	T	0.088	0.678	7.627	-5.51	-0.572	-1.023	5.103	0.044	0.00106147206234	.	.	4.149e-05	0	0	0	0	6.004e-05	0.0011	0	3.23e-05	5	154602	rs763716966	7.528e-06	7.524e-06	6.808e-06	8.254e-06	3.481e-05	4.04e-06	2.95e-06	9.25e-06	4.56e-06	0	0	0	2.519e-05	0	0	3.598e-06	4.97e-05	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.27	0.02513	T	-0.22	0.10480	N	0.015	0.00181	-0.8941	0.48567	T	0.003	0.01092	T	8	0.062570095	0.08021	T	0.001061	0.01215	T	0.044	0.11924	0.171	0.07655	0.0551355673512	0.04727	0.01837006421681249	0.01791	.	.	0.17468214035	0.00055	T	.	.	.	-0.533645	0.00366	T	-0.822793	0.01396	T	0.0121873942771986	0.00195	T	0.245875	0.03603	T	.	.	.	.	.	.	.	.	-3.201	0.12493	T	.	.	0.132	0.28607	B	.	.	-1.223649	0.00508	0.011	0.21187944228180816	0.00796	0.01449	0.04856	N	AEFBI	0.024918	0.01621	N	-1.47057518924809	0.02060	0.09056908	-1.54297286765731	0.02025	0.09253631	0.00319983967088313	0.09983	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.75	-5.51	0.02366	-3.546000	0.00486	.	.	-0.362000	0.05498	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.274:0.4515:0.2745	5.103	0.14100	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3019.98	106	chr19	8955007	.	C	A	3019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.55;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.638;SOR=0.678	GT:AD:DP:GQ:PL	0/1:162,116:278:99:3034,0,3975	20	0	1	0
chr19	9566712	9566712	G	C	exonic	ZNF121	.	nonsynonymous SNV	ZNF121:NM_001008727:exon4:c.C401G:p.S134C	.	.	419	1101	2	0	0	2	0.000907441	.	.	2231395	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.869	P	0.319	B	.	.	1.000	N	0.205	N	2.43	T	-1.011	T	0.021	T	0.164	-0.007	3.980	-2.08	-0.431	-1.851	7.115	0.112	0.00102168018662	.	.	1.649e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs774271207	2.599e-05	2.599e-05	1.497e-05	3.713e-05	0.0009	1.932e-05	1.692e-05	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	5.396e-06	8.279e-05	0.0002	2.628e-05	2.627e-05	2.57e-05	2.69e-05	6.549e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.549e-05	0	0	0	0	2.94e-05	0.0005	0	0.105	0.29823	T	0.001	0.83351	D	0.869	0.47796	P	0.319	0.41696	B	.	.	.	.	1	0.08975	N	0.595	0.15482	N	2.43	0.15261	T	-1.98	0.45769	N	0.12	0.11054	-1.0112	0.26541	T	0.021	0.09009	T	9	0.14425114	0.27377	T	0.001022	0.01120	T	0.112	0.31546	0.722	0.85673	0.043077524339	0.03247	0.03332447121362171	0.03280	0.304690156816	0.32778	0.239063292742	0.02707	T	0.318418	0.68979	T	-0.483989	0.00701	T	-0.636801	0.09904	T	0.0547726272437573	0.06319	T	0.0247975	0.10202	T	0.05738787	0.11414	0.051220834	0.08200	0.05738787	0.11414	0.051220834	0.08200	-3.665	0.18803	T	.	.	0.078	0.21616	B	.;.;.	.;.;.	0.776892	0.11468	8.073	0.64952761884598886	0.07636	0.00005	0.00104	N	AEFDGBHCI	0.028017	0.02391	N	-1.08156621427832	0.06983	0.323051	-1.28960426213666	0.04570	0.2158689	0.93214448532301	0.27076	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	1.3	-2.08	0.06852	0.241000	0.17843	.	.	0.602000	0.45918	0.000000	0.06391	0.000000	0.08366	0.839000	0.39591	0.0:0.0:0.4717:0.5283	7.115	0.24588	952	0.10565	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1615.98	34	chr19	9566712	.	G	C	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=800;ExcessHet=0.0000;FS=0.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-1.570e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/1:62,62:124:99:1630,0,1579	20	0	1	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.447	B	0.21	B	0.603	N	0.969	N	0.345	N	.	.	-1.020	T	0.048	T	0.129	0.766	8.053	-3.02	-0.358	-0.269	8.877	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	883	0.28872	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	207.46	82	chr19	10089677	.	G	C	207.46	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.463e+00;DP=2074;ExcessHet=1.7912;FS=272.777;InbreedingCoeff=-0.1689;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=0.605;SOR=12.318	GT:AD:DP:GQ:PL	0/1:67,28:95:41:41,0,1512	15	0	6	0
chr19	10252604	10252604	C	T	exonic	MRPL4	.	nonsynonymous SNV	MRPL4:NM_015956:exon3:c.C178T:p.R60C	.	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.864	P	0.010	N	1.000	N	1.5	L	.	.	-1.072	T	0.080	T	0.356	3.573	18.21	1.37	0.650	0.602	3.669	0.124	0.0172132972635	0.0036	0.00179712	0.0035	0.0007	0.0008	0	0.0040	0.0049	0.0011	0.0034	0.0034993	541	154602	rs45520838	0.0037	0.0037	0.0037	0.0038	0.0095	0.0037	0.0036	0.0075	0.0068	0.0007	0.0010	0.0002	2.52e-05	0.0032	0.0095	0.0042	0.0033	0.0041	0.0031	0.0031	0.0033	0.0028	0.0050	0.0028	0.0027	0.0046	0.0044	0.0009	0	0.0015	0	0	0.0041	0.0034	0.0050	0.0019	0.0033	0.032	0.44694	D	0.053	0.70582	T	0.989	0.73220	D	0.613	0.61462	P	0.010366	0.29953	N	0.341831	1	0.08975	N	1.61	0.41143	L	.	.	.	-2.31	0.51811	N	0.464	0.51494	-1.0718	0.09022	T	0.080	0.31735	T	9	0.008611172	0.00195	T	0.017213	0.38815	T	0.124	0.34239	.	.	0.583897100485	0.58062	0.4706424267449133	0.46983	1.03653925139	0.75629	0.61252951622	0.54674	T	0.029491	0.24760	T	-0.420644	0.01694	T	-0.374252	0.36393	T	0.0215351933068651	0.00857	T	0.813919	0.47860	T	0.29041508	0.52032	0.15465458	0.36287	0.29041508	0.52032	0.15465458	0.36286	-5.716	0.46530	T	.	.	0.103	0.26669	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.137151	0.61958	24.4	0.99674703710335233	0.78846	0.05532	0.11425	N	AEFDBHCIJ	0.195435	0.32247	N	-0.414936604442147	0.24946	1.350591	-0.591908659756271	0.19703	1.058312	0.99999936486214	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.89	1.37	0.21200	0.431000	0.21163	2.135000	0.30806	-0.991000	0.01849	0.005000	0.17040	1.000000	0.68203	0.007000	0.07825	0.3659:0.443:0.0:0.1911	3.669	0.07802	546	0.72524	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3767.11	35	chr19	10252604	.	C	T	3767.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.065;DP=994;ExcessHet=0.1072;FS=9.682;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.21;SOR=0.957	GT:AD:DP:GQ:PL	0/1:69,76:145:99:1680,0,1564	19	0	2	0
chr19	11236849	11236849	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon19:c.G2104A:p.G702S	Adams-Oliver syndrome 2, Autosomal recessive	.	0	1481	38	3	0	44	0.0146374	.	.	514258	not_provided|Adams-Oliver_syndrome_2|DOCK6-related_disorder	MedGen:C3661900|MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.734	P	0.211	B	0.000	D	0.777	D	2.205	M	1.69	T	-0.939	T	0.056	T	0.209	3.415	17.54	3.62	2.148	4.448	5.400	0.093	.	0.0008	0.00199681	0.0062	0.0009	0.0047	0	0.0192	0.0028	0.0053	0.0120	0.0014553	225	154602	rs199838752	0.0019	0.0019	0.0015	0.0022	0.0118	0.0018	0.0018	0.0112	0.0109	0.0001	0.0008	0.0040	2.778e-05	0.0015	0.0091	0.0012	0.0023	0.0118	0.0013	0.0013	0.0013	0.0013	0.0087	0.0012	0.0011	0.0066	0.0059	0.0004	0	0.0007	0.0055	0.0002	0.0016	0.0136	0.0013	0.0014	0.0087	0.017	0.51248	D	0.321	0.19073	T	0.586	0.38931	P	0.211	0.37346	B	0.000237	0.47286	D	0.173369	0.776653	0.34216	D	1.72	0.44442	L	1.69	0.27032	T	-3.76	0.71276	D	0.271	0.30687	-0.9394	0.42711	T	0.056	0.23639	T	10	0.00919348	0.00208	T	.	.	.	0.093	0.26882	.	.	0.414281671643	0.41045	0.5572741867770362	0.55654	0.352166808134	0.37058	0.556195914745	0.46730	T	0.138703	0.47233	T	-0.514771	0.00472	T	-0.502814	0.22056	T	0.0360450584337314	0.02988	T	0.812119	0.46368	T	0.19699134	0.41548	0.23599456	0.48859	0.19699134	0.41547	0.23599456	0.48858	-4.96	0.36403	T	.	.	0.081	0.08176	B	.	.	3.503437	0.49029	22.7	0.99803746337406507	0.88817	0.73063	0.35744	D	AEFDBHCIJ	0.244935	0.36595	N	0.255939982699271	0.53933	3.560307	0.281550120516721	0.54463	3.611177	0.999999985886754	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.66	3.62	0.40616	3.157000	0.50414	.	.	0.599000	0.40250	0.929000	0.32243	0.999000	0.35428	0.940000	0.48062	0.0:0.7138:0.0:0.2862	5.400	0.15591	830	0.39242	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7920.66	59	chr19	11236849	.	C	T	7920.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.674;DP=1201;ExcessHet=0.0000;FS=1.859;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.27;ReadPosRankSum=1.49;SOR=0.572	GT:AD:DP:GQ:PL	0/1:132,117:249:99:2738,0,3030	19	1	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.235	H	-0.44	T	0.121	D	0.587	D	0.498	3.271	16.98	0.744	0.212	0.433	8.708	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	209.78	55	chr19	11405406	.	G	C	209.78	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-1.596e+00;DP=1235;ExcessHet=1.7912;FS=66.458;InbreedingCoeff=-0.2677;MLEAC=6;MLEAF=0.200;MQ=59.99;MQRankSum=0.00;QD=0.65;ReadPosRankSum=0.788;SOR=8.235	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,4:47:2:.:.:2,0,1569	9	0	6	6
chr19	11405407	11405407	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1016G:p.N339S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	3.195	M	-0.42	T	0.276	D	0.556	D	0.448	3.897	19.81	5.26	1.991	7.387	14.148	0.767	0.11765181501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46910	D	0.045	0.49942	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-0.42	0.69536	T	-4.51	0.78222	D	0.926	0.93018	0.276	0.87164	D	0.556	0.83798	D	10	0.95189494	0.94530	D	0.117652	0.79749	D	0.767	0.92129	0.82	0.93328	0.643127189037	0.64018	0.5853249714877617	0.58462	0.473787794825	0.46581	0.688574552536	0.65501	T	0.388278	0.74899	T	0.0804978	0.62098	D	-0.122147	0.61625	T	0.997053503990173	0.90665	D	0.950605	0.81072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.78104	P	.;.	.;.	4.976953	0.82408	27.8	0.998584207163148	0.93729	0.98131	0.79864	D	AEFDBI	0.948277	0.95973	D	0.784910675588042	0.85151	8.491899	0.694214424071738	0.81937	7.645418	0.999407243211158	0.39524	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.0:0.0:0.0:1.0	14.148	0.64894	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1389	146.75	66	chr19	11405407	.	T	C	146.75	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.522e+00;DP=1164;ExcessHet=1.1607;FS=60.944;InbreedingCoeff=-0.1794;MLEAC=5;MLEAF=0.139;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=0.701;SOR=6.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,6:47:23:.:.:23,0,1552	13	0	5	3
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	0/2:35,0,46:81:99:1793,1899,3339,0,1441,1301	2	0	2	0
chr19	11447718	11447718	C	T	exonic	PRKCSH	.	nonsynonymous SNV	PRKCSH:NM_001289103:exon12:c.C1055T:p.P352L	Polycystic liver disease 1, Autosomal dominant	.	4	1495	20	3	0	26	0.00862069	.	.	756701	not_provided|Polycystic_liver_disease_1	MedGen:C3661900|MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.76	T	0.004	B	0.002	B	0.055	N	0.999	N	2.045	M	-0.65	T	-0.960	T	0.219	T	0.204	1.597	11.30	1.74	1.026	1.044	6.774	0.093	0.0272592696228	0.0003	0.00179712	0.0016	0	0.0011	0	0	0.0007	0.0036	0.0071	0.0006792	105	154602	rs201537803	0.0004	0.0005	0.0003	0.0006	0.0041	0.0004	0.0004	0.0037	0.0036	0	0.0014	0.0014	0	0	0.0033	0.0001	0.0005	0.0041	0.0007	0.0007	0.0006	0.0009	0.0048	0.0006	0.0006	0.0033	0.0030	4.815e-05	0	0.0041	0.0014	0	9.425e-05	0.0034	0.0002	0.0005	0.0048	.	.	.	0.062	0.45318	T	0.004	0.12183	B	0.002	0.06944	B	0.055407	0.22644	N	0.489932	0.998738	0.21949	N	2.82	0.82106	M	-0.61	0.72237	T	.	.	.	0.379	0.42050	-0.9598	0.39218	T	0.219	0.58163	T	10	0.0074155033	0.00169	T	0.027259	0.50089	D	.	.	.	.	0.63602097216	0.63303	0.3148855545786996	0.31401	.	.	0.422644913197	0.28200	T	0.01709	0.26030	T	-0.410268	0.01979	T	-0.361969	0.37825	T	0.0276172191668433	0.01632	T	0.684232	0.29249	T	0.05801091	0.11619	0.06320872	0.12486	0.051008906	0.09304	0.060679134	0.11594	-5.921	0.45614	T	.	.	0.077	0.06479	B	.;.	.;.	1.813121	0.23040	15.86	0.75341233056295642	0.11037	0.23174	0.21990	N	AEFDBHCI	0.264501	0.38183	N	-0.871565434409026	0.11522	0.5565151	-0.923174362116508	0.11548	0.5889706	0.0211538212366338	0.13324	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.19	1.74	0.23636	1.717000	0.37612	.	.	0.469000	0.21855	0.004000	0.16614	0.031000	0.21272	0.004000	0.06068	0.1742:0.7234:0.0:0.1024	6.774	0.22797	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	0	0	0.02381	1311.98	38	chr19	11447718	.	C	T	1311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.416;DP=888;ExcessHet=0.0000;FS=0.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.656;SOR=0.609	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1326,0,1527	20	0	1	0
chr19	11487787	11487787	-	CGCTGC	exonic	ZNF653	.	nonframeshift insertion	ZNF653:NM_138783:exon4:c.675_676insGCAGCG:p.A225_T226insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	.	0.0012	0.0140	0.0008	0	0	0.0001	0	6.136e-05	0.0001537	4	26028	rs753802978	0.0007	0.0007	0.0007	0.0006	0.0169	0.0006	0.0006	0.0157	0.0153	0.0169	0.0014	0	2.52e-05	1.925e-05	0.0003	0.0002	0.0012	6.962e-05	0.0047	0.0048	0.0051	0.0043	0.0162	0.0044	0.0043	0.0152	0.0148	0.0162	0	0.0019	0	0	0	0	0.0001	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1269.94	40	chr19	11487787	.	T	TCGCTGC	1269.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.54;ReadPosRankSum=-2.600e-02;SOR=0.746	GT:AD:DP:GQ:PL	0/1:32,33:65:99:1284,0,1238	20	0	1	0
chr19	12186577	12186577	A	G	exonic	ZNF136	.	startloss	ZNF136:NM_001348013:exon3:c.A1G:p.M1?	.	.	424	1091	7	0	0	7	0.00319781	.	.	2382965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.141	B	0.035	B	.	.	1.000	D	0.515	N	3.47	T	-1.025	T	0.025	T	0.296	0.016	4.099	0.363	0.047	0.020	4.576	0.015	0.00407906167823	0.0003	0.000399361	0.0002	0	0.0003	0	0	0.0002	0	0.0002	0.0001682	26	154602	rs140861589	0.0002	0.0002	0.0002	0.0002	0.0079	0.0002	0.0002	0.0061	0.0054	9.109e-05	7.012e-05	0.0014	0	0	0.0079	0.0001	0.0007	0.0004	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.711e-05	7.296e-05	3.031e-05	2.404e-05	0	0.0001	0.0026	0	0	0.0068	8.821e-05	0.0005	0.0004	0.156	0.24090	T	0.344	0.25286	T	0.141	0.27581	B	0.035	0.22741	B	.	.	.	.	1	0.81001	D	0.515	0.13537	N	1.96	0.22270	T	-1.46	0.35792	N	0.074	0.04790	-1.0246	0.22214	T	0.025	0.10688	T	9	0.010525525	0.00308	T	0.004079	0.09744	T	0.015	0.02232	.	.	0.136095386433	0.13204	0.02594741067783428	0.02545	0.210819982291	0.23580	0.342850655317	0.16864	T	0.025242	0.29327	T	-0.436255	0.01361	T	-0.55701	0.16659	T	0.0194774415243527	0.00651	T	0.510849	0.65058	T	0.10586514	0.25032	0.07442993	0.16281	0.10586514	0.25032	0.07442993	0.16281	-5.279	0.39734	T	.	.	0.071	0.18122	B	.;.;.	.;.;.	0.695747	0.10646	7.344	0.39123735558990769	0.02680	0.03557	0.08760	N	AEFDBI	0.021713	0.00998	N	-1.10345153242674	0.06582	0.3033817	-1.20417378113001	0.05843	0.2795301	0.00805140155473635	0.11601	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	1.4	0.363	0.15353	-1.348000	0.02736	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.8008:0.0:0.1992:0.0	4.576	0.11627	929	0.16858	.;.;Krueppel-associated box	.	.	.	.	.	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	0.02381	593.98	35	chr19	12186577	.	A	G	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-7.460e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:36,22:58:99:608,0,966	20	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,71:144:99:0|1:12430718_C_A:2762,2981,5985,0,3003,2790:12430718	5	4	10	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,7,0,0,0,0,0:19:99:.:.:259,0,482,295,504,799,295,504,799,799,295,504,799,799,799,295,504,799,799,799,799,295,504,799,799,799,799,799	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,7,0,0,0,0,0:19:99:.:.:259,0,482,295,504,799,295,504,799,799,295,504,799,799,799,295,504,799,799,799,799,295,504,799,799,799,799,799	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,7,0,0,0,0,0:19:99:.:.:259,0,482,295,504,799,295,504,799,799,295,504,799,799,799,295,504,799,799,799,799,295,504,799,799,799,799,799	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,7,0,0,0,0,0:19:99:.:.:259,0,482,295,504,799,295,504,799,799,295,504,799,799,799,295,504,799,799,799,799,295,504,799,799,799,799,799	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,7,0,0,0,0,0:19:99:.:.:259,0,482,295,504,799,295,504,799,799,295,504,799,799,799,295,504,799,799,799,799,295,504,799,799,799,799,799	2	3	6	0
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	0/2:61,0,55:116:99:1773,1961,4483,0,2522,2358	9	4	7	0
chr19	13982195	13982195	C	T	exonic	RFX1	.	nonsynonymous SNV	RFX1:NM_002918:exon5:c.G547A:p.A183T,	.	.	325	1196	1	0	0	1	0.000417885	.	.	716200	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.103	N	1.000	N	-0.345	N	0.98	T	-1.028	T	0.016	T	0.021	0.225	5.216	-5.49	-0.778	-1.004	0.307	0.152	.	0.0038	0.00519169	0.0015	0.0154	0.0004	0.0002	0	3.313e-05	0	0	0.0012225	189	154602	rs61735284	0.0003	0.0003	0.0004	0.0003	0.0136	0.0003	0.0003	0.0124	0.0119	0.0136	0.0004	0	6.561e-05	2.478e-05	0.0006	1.259e-05	0.0007	3.741e-05	0.0038	0.0038	0.0036	0.0040	0.0133	0.0036	0.0034	0.0124	0.0120	0.0133	0	0.0015	0	0	0	0	2.941e-05	0.0028	0.0002	0.989	0.01971	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.102875	0.02564	N	2.018390	1	0.08975	N	-0.46	0.02758	N	0.98	0.42122	T	0.78	0.01921	N	0.1	0.08227	-1.0281	0.21070	T	0.016	0.06569	T	10	0.00184834	0.00025	T	.	.	.	0.152	0.39956	.	.	0.082315109003	0.07666	0.1601415970814	0.15935	0.162063213797	0.18279	0.324697375298	0.14132	T	0.049117	0.28214	T	-0.72442	0.00026	T	-0.801032	0.01877	T	0.00404610441647966	0.00043	T	0.60024	0.22396	T	0.031622272	0.03034	0.04245484	0.05059	0.031622272	0.03033	0.04245484	0.05058	-4.33	0.28596	T	.	.	0.059	0.00730	B	.	.	-0.546496	0.01724	0.127	0.53929438103646432	0.05036	0.00346	0.01789	N	AEFDBI	0.016709	0.00393	N	-1.3302800050773	0.03334	0.1487433	-1.29695900427581	0.04472	0.2110059	0.998491070810358	0.37071	0.695654	0.57023	0	0.844039	0.99811	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.18	-5.49	0.02381	-1.003000	0.03792	-3.070000	0.03088	-0.171000	0.11205	0.043000	0.21118	0.000000	0.08366	0.971000	0.54645	0.3245:0.1732:0.2766:0.2256	0.307	0.00263	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1230.98	34	chr19	13982195	.	C	T	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=-1.441e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,33:76:99:0|1:13982187_T_C:1245,0,1645:13982187	20	0	1	0
chr19	14052198	14052198	G	A	exonic	IL27RA	.	nonsynonymous SNV	IL27RA:NM_004843:exon14:c.G1819A:p.A607T,	.	.	.	.	.	.	.	.	.	.	.	2377426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	0.023	B	0.002	B	0.537	N	1.000	N	0.55	N	1.72	T	-1.003	T	0.033	T	0.047	0.180	4.969	-2.98	-0.600	-0.863	6.136	0.007	0.00430543445761	.	0.000199681	0.0002	0	0	0	0	5.757e-05	0	0.0015	0.0001358	21	154602	rs376141649	7.762e-05	7.798e-05	6.012e-05	9.531e-05	0.0008	6.559e-05	6.161e-05	0.0006	0.0006	2.994e-05	0	0	5.04e-05	3.768e-05	0	3.335e-05	8.321e-05	0.0008	4.598e-05	4.593e-05	2.571e-05	6.716e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.992e-05	0	0	0	0	0.0002	0	0	4.413e-05	0	0.0006	0.306	0.14207	T	0.566	0.08930	T	0.023	0.18885	B	0.002	0.06944	B	0.536965	0.05291	N	1.299180	1	0.08975	N	0.205	0.09354	N	1.72	0.26588	T	0.37	0.03639	N	0.013	0.00142	-1.0033	0.28963	T	0.033	0.14290	T	10	0.013755888	0.00291	T	0.004305	0.10435	T	0.007	0.00512	0.196	0.10839	0.0551355673512	0.04727	0.1800121394423001	0.17920	0.161341295611	0.18212	0.257508486509	0.04599	T	0.061031	0.31545	T	-0.659735	0.00063	T	-0.787917	0.02222	T	0.0169078055027455	0.00442	T	0.555444	0.19245	T	0.027814988	0.02027	0.0461898	0.06381	0.027814988	0.02027	0.0461898	0.06380	-3.767	0.20312	T	.	.	0.070	0.03515	B	.	.	-0.680001	0.01368	0.078	0.61101416324303981	0.06625	0.01314	0.04549	N	AEFDBI	0.028678	0.02570	N	-1.23558662346708	0.04494	0.2029085	-1.27965899973825	0.04706	0.2226083	2.89346757977113E-4	0.06355	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.604944	0.38103	0	.	.	5.28	-2.98	0.05179	-1.282000	0.02907	-1.415000	0.05493	-0.637000	0.04462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.151:0.0:0.5276:0.3214	6.136	0.19453	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	826.98	37	chr19	14052198	.	G	A	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.853;DP=768;ExcessHet=0.0000;FS=2.322;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=0.311;SOR=0.538	GT:AD:DP:GQ:PL	0/1:21,33:54:99:841,0,425	20	0	1	0
chr19	14089297	14089297	T	0	exonic	SAMD1	.	.	.	.	.	421	931	119	12	39	182	0.0713217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1349.48	33	chr19	14089297	.	T	C,A,*	1349.48	.	AC=1,1,2;AF=0.024,0.024,0.048;AN=42;BaseQRankSum=-1.173e+00;DP=850;ExcessHet=0.0082;FS=7.035;InbreedingCoeff=0.4474;MLEAC=1,1,2;MLEAF=0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.96;ReadPosRankSum=1.09;SOR=0.361	GT:AD:DP:GQ:PL	0/2:29,0,18,0:47:99:377,464,1299,0,835,783,464,1299,835,1299	18	0	1	0
chr19	15011084	15011084	C	A	exonic	CCDC105	.	nonsynonymous SNV	CCDC105:NM_173482:exon1:c.C259A:p.P87T,	.	.	429	1088	3	0	2	5	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.001	D	0.828	N	1.04	L	1.49	T	-0.985	T	0.118	T	0.415	3.864	19.63	4.01	1.766	4.015	11.631	0.099	.	.	0.00279553	0.0050	0	0.0011	0.0006	0	0	0	0.0147	0.0012031	186	154602	rs568806898	0.0008	0.0008	0.0004	0.0011	0.0130	0.0008	0.0007	0.0124	0.0121	0	0	0	2.637e-05	0	0.0002	4.564e-06	0.0009	0.0130	0.0004	0.0005	0.0002	0.0007	0.0135	0.0004	0.0003	0.0108	0.0099	0	0	6.533e-05	0	0.0002	0	0	1.47e-05	0	0.0135	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000598	0.43095	D	0.000000	0.827618	0.28802	N	2.43	0.70455	M	1.49	0.31470	T	-1.92	0.44657	N	0.492	0.52563	-0.9853	0.33760	T	0.118	0.41582	T	10	0.0076455176	0.00174	T	.	.	.	0.099	0.28413	0.245	0.17984	0.492200611407	0.48855	0.4124005769182094	0.41156	1.26118825146	0.82032	0.522045612335	0.41913	T	0.032555	0.22535	T	-0.414212	0.01864	T	-0.357376	0.38356	T	0.109440566205491	0.13365	T	0.710029	0.32075	T	0.32342362	0.54927	0.34236997	0.59964	0.32342362	0.54927	0.34236997	0.59963	-4.177	0.26417	T	.	.	0.338	0.55788	B	.	.	4.647008	0.74039	26.1	0.99710697759777622	0.81283	0.93920	0.59575	D	AEFDBIJ	0.327035	0.42813	N	0.435237849557529	0.63372	4.569551	0.403499720151346	0.61783	4.383294	0.999999845249894	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.179345	0.04352	3	0.613276	0.41899	0	.	.	4.01	4.01	0.45821	4.063000	0.57214	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.0:1.0:0.0:0.0	11.631	0.50437	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	0.02381	1016.98	35	chr19	15011084	.	C	A	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.840e-01;DP=799;ExcessHet=0.0000;FS=3.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.973e+00;SOR=0.399	GT:AD:DP:GQ:PL	0/1:33,39:72:99:1031,0,880	20	0	1	0
chr19	16890340	16890340	G	A	exonic	F2RL3	.	nonsynonymous SNV	F2RL3:NM_003950:exon2:c.G877A:p.V293M,	.	.	.	.	.	.	.	.	.	.	.	3249486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.909	P	0.24	B	0.669	U	0.998	N	1.62	L	-0.85	T	-0.733	T	0.209	T	0.164	2.460	14.18	-8.3	-0.882	-1.175	5.540	0.299	0.176207602026	.	.	7.509e-05	0	0.0002	0	0	0.0001	0	0	2.59e-05	4	154602	rs762981408	1.869e-05	2.394e-05	2.066e-05	1.67e-05	4.621e-05	1.28e-05	1.097e-05	1.3e-05	1.11e-05	3.009e-05	4.621e-05	0	2.562e-05	2.222e-05	0	1.986e-05	0	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	6.539e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	6.539e-05	0	0	0	0	0	0	0	0.046	0.40573	D	0.063	0.45110	T	0.909	0.50183	P	0.24	0.38599	B	0.668696	0.06023	U	1.247070	0.998281	0.22247	N	2.89	0.83701	M	-0.85	0.74371	T	-0.8	0.22078	N	0.105	0.08925	-0.7330	0.58812	T	0.209	0.56798	T	10	0.18352675	0.33684	T	0.176208	0.85205	D	0.299	0.61955	0.617	0.75116	0.482357354261	0.47867	0.21297463901505376	0.21213	0.25505889808	0.28090	0.661059617996	0.61560	T	0.166323	0.51251	T	-0.250111	0.14085	T	-0.416748	0.31450	T	0.174500718712807	0.18881	T	0.536546	0.18022	T	0.084227666	0.19486	0.07604706	0.16805	0.084227666	0.19486	0.07604706	0.16804	-6.383	0.49377	T	.	.	0.117	0.23675	B	.	.	0.419261	0.07901	4.603	0.97121318687476632	0.32456	0.20280	0.20982	N	AEFBHCI	.	.	.	-0.792974820644752	0.13492	0.6650532	-0.956728699824431	0.10767	0.5444228	1.0	0.98316	0.525926	0.21836	0	0.541556	0.11502	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	4.15	-8.3	0.00881	-1.179000	0.03200	-2.554000	0.03615	-1.346000	0.01198	0.000000	0.06391	0.000000	0.08366	0.145000	0.20128	0.1765:0.4952:0.2334:0.0949	5.540	0.16323	970	0.06235	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1034.98	42	chr19	16890340	.	G	A	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.461;DP=861;ExcessHet=0.0000;FS=1.811;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.406;SOR=0.504	GT:AD:DP:GQ:PL	0/1:43,40:83:99:1049,0,1097	20	0	1	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:22,0,2,15:39:99:.:.:423,497,1421,352,1237,1188,0,853,772,792	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,2,31:34:39:.:.:1187,1058,1229,41,39,0	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,33,0:34:99:.:.:1614,99,0,1544,121,1740	0	10	3	0
chr19	18258063	18258063	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3221A:p.R1074H	.	.	427	1059	34	2	0	38	0.0176252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.092	B	0.002	B	0.158	N	1.000	N	0.55	N	3.99	T	-0.962	T	0.007	T	0.205	0.984	9.016	1.52	0.662	0.761	7.229	0.073	.	0.0038	0.00299521	0.0047	0.0012	0.0047	0.0001	0.0002	0.0066	0.0092	0.0034	0.0042884	663	154602	rs141048177	0.0041	0.0041	0.0040	0.0042	0.0265	0.0040	0.0040	0.0231	0.0218	0.0014	0.0049	0.0208	2.519e-05	0.0003	0.0265	0.0040	0.0053	0.0035	0.0036	0.0036	0.0038	0.0033	0.0054	0.0033	0.0032	0.0045	0.0041	0.0010	0	0.0054	0.0216	0	0.0003	0.0374	0.0043	0.0104	0.0037	0.163	0.23450	T	0.095	0.48336	T	0.092	0.25296	B	0.002	0.06944	B	0.157719	0.03014	N	1.971570	1	0.08975	N	.	.	.	3.94	0.03597	T	-0.59	0.17624	N	0.075	0.11626	-0.9618	0.38839	T	0.007	0.02518	T	10	0.0044397414	0.00091	T	.	.	.	0.073	0.21317	.	.	0.0138822411134	0.00435	0.45776120767345174	0.45694	0.222400704968	0.24772	0.377672582865	0.21925	T	0.021313	0.16617	T	-0.62893	0.00097	T	-0.674686	0.07311	T	0.00170340232547441	0.00017	T	0.509649	0.16214	T	0.028322374	0.02152	0.030063309	0.01416	0.028322374	0.02151	0.030063309	0.01415	-5.103	0.40376	T	.	.	0.105	0.19559	B	.;.;.;.	.;.;.;.	1.248499	0.16447	12.55	0.94216204161609229	0.24461	0.05184	0.11004	N	AEFDBCI	0.064026	0.12409	N	-1.13637647039827	0.06007	0.2754035	-1.18334913895505	0.06187	0.2970505	1.35823505308899E-4	0.05486	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.58	1.52	0.22158	0.373000	0.20215	0.117000	0.14863	-0.881000	0.02461	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3029:0.6971:0.0	7.229	0.25209	871	0.31377	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2018.11	33	chr19	18258063	.	C	T	2018.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.56;DP=889;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.320e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:22,43:65:99:1110,0,507	19	0	2	0
chr19	18921914	18921914	G	A	exonic	DDX49	.	nonsynonymous SNV	DDX49:NM_019070:exon4:c.G397A:p.D133N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.961	D	0.000	D	1.000	D	2.23	M	3.37	T	-1.168	T	0.053	T	0.223	4.764	26.7	4.4	1.304	9.346	12.675	0.370	0.103008909665	.	0.000399361	8.351e-05	0	8.66e-05	0	0	3.05e-05	0	0.0004	7.76e-05	12	154602	rs562469064	5.884e-05	5.883e-05	4.493e-05	7.289e-05	0.0007	4.877e-05	4.497e-05	0.0003	0.0003	0	6.709e-05	3.827e-05	0	0	0.0007	3.687e-05	3.312e-05	0.0004	3.939e-05	3.937e-05	2.569e-05	5.37e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	6.531e-05	0	0	0	0	1.47e-05	0	0.0008	0.015	0.52492	D	0.011	0.64786	D	0.991	0.64070	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.84	0.82582	M	3.37	0.05847	T	-4.51	0.78222	D	0.976	0.98657	-1.1680	0.00579	T	0.053	0.22462	T	10	0.7192699	0.73553	D	0.103009	0.77680	D	0.370	0.68930	.	.	0.511220899679	0.50763	0.779462653133559	0.77897	1.16590570783	0.79617	0.734115123749	0.72109	T	0.147791	0.48605	T	-0.347814	0.04865	T	-0.43284	0.29614	T	0.933413207530975	0.60015	D	0.994251	0.98100	D	0.5462916	0.69749	0.3389096	0.59663	0.5462916	0.69750	0.3389096	0.59662	-11.784	0.83782	D	.	.	0.940	0.85917	P	.	.	5.267835	0.88451	29.6	0.99910475432143153	0.98022	0.96401	0.68957	D	AEFDBCI	0.917694	0.88568	D	0.700300362934198	0.79653	7.123067	0.646517350126198	0.78353	6.858897	0.999999585392701	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.44	4.4	0.52402	9.471000	0.96845	11.735000	0.95074	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0805:0.0:0.9195:0.0	12.675	0.56252	940	0.13648	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding 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	0.02381	894.98	35	chr19	18921914	.	G	A	894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.993;DP=830;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=2.65;SOR=0.502	GT:AD:DP:GQ:PL	0/1:38,33:71:99:909,0,1128	20	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,63:63:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1497,1497,1497,137,137,0:20624327	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,63:63:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1497,1497,1497,137,137,0:20624327	0	4	3	7
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I,	.	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1507.17	46	chr19	21383191	.	G	A	1507.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.034e+00;DP=1693;ExcessHet=1.1607;FS=5.964;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.03;MQRankSum=-1.079e+01;QD=1.91;ReadPosRankSum=-1.253e+00;SOR=1.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,11:117:99:0|1:21383168_A_G:143,0,4418:21383168	15	0	5	1
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S,	.	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1201.17	46	chr19	21383196	.	T	C	1201.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.03;DP=1683;ExcessHet=1.1607;FS=6.327;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.06;MQRankSum=-1.086e+01;QD=1.53;ReadPosRankSum=-1.685e+00;SOR=1.443	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,10:115:99:0|1:21383168_A_G:104,0,4379:21383168	15	0	5	1
chr19	21383611	21383611	G	A	exonic	ZNF738	.	stopgain	ZNF738:NM_001355237:exon5:c.G1065A:p.W355X,	.	.	524	995	3	0	0	3	0.00150527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	.	.	.	.	.	.	.	.	0.0039957	104	26028	rs147309910	0.0051	0.0048	0.0052	0.0050	0.0066	0.0049	0.0049	0.0064	0.0064	0.0015	0.0027	0.0001	0	0.0031	0.0020	0.0066	0.0046	0.0012	0.0042	0.0041	0.0047	0.0037	0.0069	0.0039	0.0038	0.0064	0.0062	0.0013	0	0.0031	0.0006	0	0.0041	0	0.0069	0.0060	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	939.98	46	chr19	21383611	.	G	A	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.976;DP=979;ExcessHet=0.0000;FS=1.624;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.13;ReadPosRankSum=1.07;SOR=0.495	GT:AD:DP:GQ:PL	0/1:61,42:103:99:954,0,1467	20	0	1	0
chr19	21536638	21536638	T	A	exonic	ZNF429	.	nonsynonymous SNV	ZNF429:NM_001346916:exon3:c.T393A:p.H131Q	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.974	D	0.497	P	.	.	0.995	N	3.6	H	-2.44	D	-0.051	T	0.652	D	0.169	1.411	10.65	-0.371	-1.431	-1.329	6.079	0.299	0.00309283820574	0.0045	0.00219649	0.0041	0.0013	0.0020	0	0.0023	0.0064	0.0022	0.0010	0.0042626	659	154602	rs200113769	0.0059	0.0059	0.0059	0.0058	0.0071	0.0058	0.0057	0.0069	0.0069	0.0013	0.0031	7.656e-05	0	0.0026	0.0019	0.0071	0.0046	0.0013	0.0043	0.0043	0.0048	0.0038	0.0073	0.0040	0.0039	0.0068	0.0066	0.0013	0	0.0029	0.0006	0	0.0038	0	0.0073	0.0061	0.0008	0.011	0.55530	D	0.013	0.65728	D	0.974	0.57829	D	0.497	0.47562	P	.	.	.	.	0.995012	0.23391	N	2.935	0.84639	M	-2.44	0.88767	D	-5.69	0.87300	D	0.389	0.43029	-0.0513	0.81178	T	0.652	0.87893	D	9	0.006724328	0.00153	T	0.003093	0.06696	T	0.299	0.61955	0.767	0.89452	0.777867242166	0.77582	0.015973642570542054	0.01553	0.207944944611	0.23260	0.45930403471	0.33215	T	0.020338	0.16033	T	-0.368398	0.03676	T	-0.29795	0.44940	T	0.0816867275065418	0.10202	T	0.0864913	0.03000	T	0.254001	0.48425	0.31475633	0.57466	0.254001	0.48425	0.31475633	0.57465	-6.812	0.52648	T	.	.	0.222	0.62271	B	.;.	.;.	1.205308	0.15976	12.23	0.76990713843133651	0.11692	0.01443	0.04843	N	AEFBCI	0.069268	0.13702	N	-0.900326082026865	0.10834	0.519749	-1.26169966198927	0.04959	0.2352342	0.330136942020879	0.19477	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	0.185	-0.371	0.11902	-0.635000	0.05568	.	.	-0.919000	0.02208	0.000000	0.06391	0.000000	0.08366	0.135000	0.19760	0.0:0.6769:0.0:0.3231	6.079	0.19154	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1567.98	36	chr19	21536638	.	T	A	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=937;ExcessHet=0.0000;FS=1.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=1.03;SOR=0.664	GT:AD:DP:GQ:PL	0/1:72,60:132:99:1582,0,1817	20	0	1	0
chr19	24127753	24127753	C	T	exonic	ZNF254	.	nonsynonymous SNV	ZNF254:NM_001278678:exon2:c.C1498T:p.R500W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.303	B	0.042	B	.	.	1.000	N	1.335	L	3.19	T	-0.961	T	0.014	T	0.196	0.998	9.075	-0.621	-0.295	-0.252	2.203	0.015	0.001022816492	0.0030	0.000798722	0.0028	0.0019	0.0004	0.0001	0	0.0046	0.0011	0.0003	0.0027749	429	154602	rs146672619	0.0030	0.0030	0.0031	0.0029	0.0037	0.0029	0.0029	0.0036	0.0035	0.0011	0.0004	0.0002	5.046e-05	0.0010	0	0.0037	0.0018	0.0002	0.0018	0.0018	0.0019	0.0016	0.0030	0.0016	0.0015	0.0027	0.0026	0.0012	0	0.0005	0.0006	0.0002	0.0005	0	0.0030	0.0010	0	0.416	0.09958	T	0.207	0.27679	T	0.303	0.32643	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	1.925	0.51371	L	3.19	0.07353	T	-1.3	0.32590	N	0.133	0.14054	-0.9607	0.39050	T	0.014	0.05753	T	9	0.003712982	0.00069	T	0.001023	0.01120	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.009809851484075465	0.00942	0.00147402651923	0.00125	0.295972287655	0.09803	T	0.004322	0.03729	T	-0.618174	0.00113	T	-0.659788	0.08281	T	0.0030301096404045	0.00032	T	0.257774	0.05417	T	0.04297975	0.06616	0.029831648	0.01366	0.04297975	0.06616	0.029831648	0.01366	-2.706	0.07354	T	.	.	0.215	0.50663	B	.;.;.;.	.;.;.;.	1.230976	0.16258	12.42	0.98072150279757986	0.38038	0.00011	0.00159	N	AEFDBHCI	0.051844	0.09198	N	-0.966702361835392	0.09321	0.440682	-1.10058871161028	0.07690	0.3750271	6.63863612526585E-5	0.04366	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	0.525	-0.621	0.10984	-1.322000	0.02802	.	.	0.294000	0.18828	0.000000	0.06391	0.000000	0.08366	0.966000	0.53164	0.0:0.3573:0.3412:0.3015	2.203	0.03688	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.02381	1363.98	34	chr19	24127753	.	C	T	1363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=819;ExcessHet=0.0000;FS=2.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-3.830e-01;SOR=0.530	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1378,0,1188	20	0	1	0
chr19	34342156	34342156	T	C	exonic	GARRE1	.	nonsynonymous SNV	GARRE1:NM_014686:exon10:c.T2222C:p.I741T,	.	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.13	B	0.055	B	0.000	D	0.999	D	0.805	L	1.54	T	-1.083	T	0.054	T	0.499	3.635	18.49	5.65	2.150	4.458	9.532	0.085	0.0148172796724	0.0013	0.000798722	0.0016	9.632e-05	0.0003	0	0.0005	0.0021	0.0011	0.0025	0.0014359	222	154602	rs145908385	0.0014	0.0014	0.0013	0.0015	0.0029	0.0013	0.0013	0.0025	0.0024	0.0002	0.0003	0.0199	2.519e-05	0.0004	0.0029	0.0010	0.0025	0.0028	0.0012	0.0012	0.0013	0.0012	0.0021	0.0011	0.0010	0.0011	0.0010	0.0002	0	0.0005	0.0205	0	0.0002	0.0034	0.0013	0.0014	0.0021	0.022	0.48642	D	0.1	0.38742	T	0.13	0.27095	B	0.055	0.25995	B	0.000029	0.55875	D	0.119538	0.998944	0.45735	D	0.975	0.24501	L	1.54	0.30133	T	-1.28	0.32185	N	0.576	0.59816	-1.0828	0.06814	T	0.054	0.22921	T	10	0.008531302	0.00193	T	0.014817	0.35183	T	0.085	0.24743	.	.	0.082315109003	0.07666	0.10805245265841971	0.10734	0.332956946099	0.35338	0.395007580519	0.24373	T	0.062233	0.31862	T	-0.414698	0.01851	T	-0.372765	0.36566	T	0.0285525306430237	0.01769	T	0.768923	0.39853	T	0.05121029	0.09370	0.08773982	0.20413	0.05121029	0.09370	0.08773982	0.20412	-1.404	0.01579	T	.	.	0.144	0.31758	B	.	.	3.176140	0.43089	21.7	0.99811508799186421	0.89531	0.96395	0.68928	D	AEFDBI	0.299181	0.40830	N	0.0316287033590267	0.43297	2.625488	0.221066606803657	0.51017	3.288059	0.972996621385707	0.29417	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	4.438000	0.59704	4.204000	0.42488	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0781:0.0:0.9219	9.532	0.38363	934	0.15400	.	.	.	.	.	.	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	0.02381	2081.98	35	chr19	34342156	.	T	C	2081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.551e+00;DP=900;ExcessHet=0.0000;FS=1.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.936;SOR=0.692	GT:AD:DP:GQ:PL	0/1:94,83:177:99:2096,0,2660	20	0	1	0
chr19	34404769	34404769	G	T	exonic	PDCD2L	.	nonsynonymous SNV	PDCD2L:NM_001353433:exon2:c.G229T:p.V77L	.	.	424	1094	4	0	0	4	0.00182482	.	.	2343564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.794	P	0.199	B	0.000	D	1.000	D	1.385	L	.	.	-0.973	T	0.122	T	0.606	4.135	21.3	5.04	2.325	4.066	16.160	0.138	0.0167952062519	7.7e-05	.	0.0004	0	0.0001	0	0.0007	0.0004	0	0.0007	0.0002458	38	154602	rs202226528	0.0004	0.0004	0.0004	0.0004	0.0016	0.0004	0.0004	0.0008	0.0006	8.978e-05	9.031e-05	0	0	0.0004	0.0016	0.0004	0.0006	0.0008	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0001	0	0	0.0002	0.0034	0.0005	0.0005	0.0004	0.167	0.23095	T	0.327	0.25362	T	0.794	0.44757	P	0.199	0.36804	B	0.000254	0.46924	D	0.140503	0.99985	0.49910	D	1.8	0.47472	L	.	.	.	-1.21	0.30762	N	0.617	0.63289	-0.9730	0.36562	T	0.122	0.42420	T	9	0.12001422	0.22723	T	0.016795	0.38225	T	0.138	0.37187	0.5	0.59147	0.0954503805726	0.09146	0.5787450335108484	0.57803	0.183322869054	0.20616	0.711546778679	0.68817	T	0.04322	0.26433	T	-0.253499	0.13672	T	-0.219942	0.52743	T	0.0687943771481514	0.08481	T	0.842416	0.51891	T	0.15419336	0.34913	0.179676	0.40718	0.15419336	0.34912	0.179676	0.40717	-3.288	0.13583	T	.	.	0.321	0.54558	B	.;.	.;.	4.026073	0.59503	24.1	0.98603416835121704	0.43533	0.85259	0.44376	D	AEFDGBHCI	0.451826	0.50564	N	0.113207699234417	0.47079	2.938638	0.182282922697209	0.48875	3.097818	0.999999999999999	0.74766	0.493124	0.18060	0	0.52208	0.09955	0	0.52208	0.10781	0	0.627883	0.49187	0	.	.	5.04	5.04	0.67293	4.570000	0.60586	11.530000	0.93084	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.758000	0.36073	0.0:0.0:1.0:0.0	16.160	0.81506	939	0.14249	.;.	.	.	.	.	.	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	0.02381	656.98	37	chr19	34404769	.	G	T	656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.944;DP=770;ExcessHet=0.0000;FS=0.947;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=0.312;SOR=0.489	GT:AD:DP:GQ:PL	0/1:43,28:71:99:671,0,1118	20	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1248.58	34	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	A,*	1248.58	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.761;DP=1237;ExcessHet=3.5521;FS=1.779;InbreedingCoeff=-0.2353;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.054;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,36:69:99:.:.:1413,1513,2843,0,1330,1210	13	0	1	0
chr19	36891896	36891896	T	C	exonic	ZNF829	.	nonsynonymous SNV	ZNF829:NM_001037232:exon6:c.A895G:p.K299E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.645	P	0.223	B	.	.	1.000	N	-0.8	N	3.18	T	-0.992	T	0.008	T	0.252	2.763	15.20	3.18	1.690	-2.044	6.027	0.062	0.00555126399315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.051	0.47828	T	0.645	0.40526	P	0.223	0.37929	B	.	.	.	.	0.999833	0.54805	N	-0.28	0.03718	N	3.18	0.07478	T	-3.11	0.63669	D	0.123	0.13198	-0.9916	0.32193	T	0.008	0.02968	T	9	0.07254508	0.10843	T	0.005551	0.14319	T	0.062	0.17934	0.441	0.49648	0.0551355673512	0.04727	0.017484765724269793	0.01703	0.664488356366	0.59089	0.29109403491	0.09081	T	0.191072	0.54581	T	-0.261315	0.12747	T	-0.613137	0.11732	T	0.688999158805551	0.40202	D	0.00616367	0.00023	T	0.4311698	0.62828	0.31431648	0.57424	0.4311698	0.62829	0.31431648	0.57423	-5.736	0.45016	T	.	.	0.136	0.29724	B	.;.	.;.	2.650023	0.34500	19.64	0.99856481959622156	0.93548	0.04831	0.10559	N	AEFDGBHCI	0.070440	0.13984	N	-0.516737943371161	0.21539	1.143802	-0.44858457885286	0.23588	1.287194	0.0376540911176863	0.14308	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	3.18	3.18	0.35615	-1.732000	0.01951	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.3617:0.0:0.0:0.6383	6.027	0.18886	584	0.69381	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	709.98	38	chr19	36891896	.	T	C	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=768;ExcessHet=0.0000;FS=0.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=1.82;SOR=0.796	GT:AD:DP:GQ:PL	0/1:41,28:69:99:724,0,1025	20	0	1	0
chr19	37129036	37129036	-	TGGCTCACAAGTTTACATGTGAATTGTC	exonic	ZNF420	.	stopgain	ZNF420:NM_001329520:exon4:c.1832_1833insTGGCTCACAAGTTTACATGTGAATTGTC:p.H611_G612delinsHGSQVYMX	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1461.94	34	chr19	37129036	.	A	ATGGCTCACAAGTTTACATGTGAATTGTC	1461.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.430e-01;DP=826;ExcessHet=0.0000;FS=12.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.76;ReadPosRankSum=0.920;SOR=2.115	GT:AD:DP:GQ:PL	0/1:36,38:74:99:1476,0,1409	20	0	1	0
chr19	37885478	37885478	C	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G8193C:p.K2731N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	.	.	1.000	N	0.975	L	0.95	T	-0.990	T	0.144	T	0.216	-0.178	3.135	0.113	0.135	0.214	6.778	0.061	0.0424069194523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.966	0.71341	D	.	.	.	.	1	0.08975	N	.	.	.	0.95	0.43279	T	-2.63	0.56466	D	0.396	0.44283	-0.9896	0.32702	T	0.144	0.46605	T	9	0.20194328	0.36296	T	0.042407	0.60446	D	0.061	0.17616	0.298	0.26362	0.184867976434	0.18130	0.16500171187729412	0.16420	.	.	0.54839849472	0.45631	T	.	.	.	-0.19616	0.21360	T	-0.519546	0.20339	T	0.395060750468901	0.28756	T	0.440756	0.12177	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.69456	P	.;.	.;.	2.937630	0.39049	20.9	0.61567676950263228	0.06741	0.48320	0.28180	N	AEFDBHCI	0.070667	0.14036	N	-0.260728531451413	0.30676	1.712781	-0.407094091885144	0.24789	1.359421	0.0057692984484574	0.11036	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.55	0.113	0.13937	0.029000	0.13555	.	.	-0.171000	0.11205	0.995000	0.38783	0.069000	0.22184	0.951000	0.49849	0.0:0.6152:0.0:0.3848	6.778	0.22818	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1845.98	177	chr19	37885478	.	C	G	1845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.528e+00;DP=2973;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-1.077e+00;SOR=0.649	GT:AD:DP:GQ:PL	0/1:82,78:160:99:1860,0,2297	20	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.55	N	-0.28	T	-0.989	T	0.121	T	0.114	1.268	10.14	-4.52	-1.174	-2.695	8.886	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	3239.79	87	chr19	37887093	.	A	G	3239.79	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-3.813e+00;DP=2213;ExcessHet=7.7275;FS=216.184;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.38;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,28:117:99:0|1:37887093_A_G:384,0,3137:37887093	5	0	11	5
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,28:117:99:0|1:37887093_A_G:384,0,3137:37887093	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,28:116:99:0|1:37887093_A_G:387,0,3102:37887093	1	0	15	5
chr19	38915624	38915624	-	CCAGGCAGC	exonic	SARS2	.	nonframeshift insertion	SARS2:NM_017827:exon16:c.1538_1539insGCTGCCTGG:p.G513_Q514insLPG	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	.	1	1493	28	0	0	28	0.00928998	.	.	211871	not_provided|SARS2-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00259585	0.0023	0.0004	0.0012	0	0.0014	0.0018	0.0022	0.0081	0.0015368	40	26028	rs551671819	0.0023	0.0023	0.0022	0.0024	0.0077	0.0023	0.0022	0.0072	0.0070	0.0004	0.0013	0.0016	2.519e-05	0.0021	0.0057	0.0021	0.0026	0.0077	0.0015	0.0016	0.0012	0.0019	0.0071	0.0014	0.0013	0.0052	0.0045	9.624e-05	0	0.0008	0.0023	0	0.0025	0.0068	0.0022	0	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2472.94	37	chr19	38915624	.	G	GCCAGGCAGC	2472.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.170e-01;DP=1637;ExcessHet=0.0000;FS=2.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.08;ReadPosRankSum=-2.320e-01;SOR=0.449	GT:AD:DP:GQ:PL	0/1:49,63:112:99:2487,0,1851	20	0	1	0
chr19	39873243	39873243	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon24:c.G11156A:p.S3719N,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.236	B	0.262	B	0.426	U	1.000	N	0.85	L	0.26	T	-0.953	T	0.132	T	0.048	1.883	12.25	-7.74	-1.073	-0.666	11.541	0.094	0.00763630474886	0.0002	.	0.0002	0	0.0006	0	0	0.0003	0.0011	0	0.0001811	28	154602	rs149938362	0.0002	0.0001	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	3.803e-05	0.0005	0.0005	0	3.075e-05	0.0002	0.0002	0.0003	1.204e-05	0.0001	0.0001	0.0001	9.412e-05	0.0002	7.089e-05	5.746e-05	0.0001	0.0001	0	0	6.544e-05	0	0	9.407e-05	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	875.98	34	chr19	39873243	.	C	T	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.100e+00;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-3.720e-01;SOR=0.831	GT:AD:DP:GQ:PL	0/1:33,33:66:99:890,0,915	20	0	1	0
chr19	39875925	39875925	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon23:c.G10066A:p.G3356S,	.	.	411	1095	16	0	0	16	0.00725295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.983	D	0.001	U	0.824	D	3.385	M	0.05	T	0.358	D	0.515	D	0.325	2.665	14.87	4.05	2.253	0.832	15.467	0.332	.	7.7e-05	0.00279553	0.0023	0	0.0003	0	0	0.0002	0.0063	0.0144	0.0018305	283	154602	rs200280608	0.0011	0.0010	0.0006	0.0017	0.0149	0.0011	0.0011	0.0142	0.0139	7.603e-05	2.684e-05	5.93e-05	0	0	0.0025	0.0001	0.0010	0.0149	0.0006	0.0006	0.0004	0.0009	0.0178	0.0005	0.0005	0.0148	0.0137	0	0	0	0	0	9.423e-05	0.0034	0.0001	0	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1496.98	39	chr19	39875925	.	C	T	1496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.042;DP=1299;ExcessHet=0.0000;FS=2.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-1.784e+00;SOR=0.503	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1511,0,1728	20	0	1	0
chr19	40374500	40374500	G	A	exonic	PLD3	.	nonsynonymous SNV	PLD3:NM_001031696:exon10:c.G899A:p.C300Y	.	.	413	1104	4	1	0	6	0.00271003	.	.	2106767	not_provided|PLD3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.723	P	0.841	P	0.000	D	1.000	D	2.955	M	0.86	T	-0.418	T	0.334	T	0.768	4.511	24.3	6.08	2.894	5.894	13.706	0.385	0.0275957947642	0.0007	0.000199681	0.0009	0.0003	0.0010	0	0.0002	0.0012	0	0.0013	0.0008473	131	154602	rs146083475	0.0006	0.0006	0.0005	0.0006	0.0031	0.0005	0.0005	0.0020	0.0017	0.0001	0.0005	0.0082	0	1.873e-05	0.0031	0.0004	0.0009	0.0010	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0004	0.0003	2.406e-05	0	0.0003	0.0072	0	0	0.0136	0.0005	0.0005	0.0006	0.002	0.72154	D	0.008	0.67890	D	0.723	0.42412	P	0.841	0.60228	P	0.000000	0.84330	D	0.045848	0.999985	0.54805	D	3.115	0.87836	M	0.86	0.46777	T	-6.85	0.93097	D	0.867	0.86404	-0.4180	0.71456	T	0.334	0.70134	T	10	0.049577415	0.04567	T	0.027596	0.50390	D	0.385	0.70194	.	.	0.740592746267	0.73827	0.9034438134770669	0.90317	1.5269052154	0.87516	0.826454758644	0.86018	D	0.35858	0.72511	T	-0.176797	0.24213	T	-0.0722853	0.65464	T	0.114248189813283	0.13859	T	0.948505	0.80194	D	0.8974716	0.91158	0.92826766	0.96975	0.8974716	0.91159	0.92826766	0.96975	-9.292	0.69557	D	.	.	0.900	0.82768	P	.;.;.;.;.	.;.;.;.;.	5.389127	0.90289	31	0.99823633192832395	0.90590	0.98323	0.81627	D	AEFDBI	0.923037	0.89892	D	0.799278552719836	0.86061	8.766069	0.807773248449009	0.90330	10.358	0.999508322816039	0.40062	0.706298	0.61202	0	0.709663	0.81188	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	5.291000	0.65468	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1542:0.8458:0.0	13.706	0.62119	702	0.57624	PLD-like domain;PLD-like domain;PLD-like domain;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	952.98	34	chr19	40374500	.	G	A	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.153e+00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.191;SOR=0.702	GT:AD:DP:GQ:PL	0/1:31,40:71:99:967,0,750	20	0	1	0
chr19	40627738	40627738	C	T	exonic	LTBP4	.	nonsynonymous SNV	LTBP4:NM_001042545:exon29:c.C4400T:p.A1467V	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	507803	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.988	D	0.723	P	0.389	N	1.000	D	.	.	-1.55	D	-0.545	T	0.210	T	0.291	3.668	18.64	3.57	1.108	4.578	12.719	0.423	.	0.0068	0.0061901	0.0034	0.0369	0.0015	0.0004	0.0009	0	0	0	0.0015524	240	154602	rs148715056	0.0007	0.0007	0.0008	0.0006	0.0247	0.0006	0.0006	0.0233	0.0227	0.0247	0.0009	0	0	1.988e-05	0.0014	8.142e-06	0.0013	6.02e-05	0.0066	0.0066	0.0068	0.0064	0.0235	0.0063	0.0062	0.0223	0.0218	0.0235	0	0.0016	0	0	9.414e-05	0.0034	1.47e-05	0.0024	0.0002	.	.	.	0.004	0.74150	D	0.923	0.51194	P	0.3	0.41053	B	0.389241	0.13279	N	0.614416	0.990024	0.41071	D	.	.	.	.	.	.	.	.	.	0.501	0.53357	-0.5455	0.66956	T	0.210	0.57054	T	9	0.0077299178	0.00175	T	.	.	.	0.423	0.73152	.	.	0.377143385212	0.37329	0.7978051752814448	0.79733	0.794935810401	0.66003	0.547647833824	0.45525	T	0.194888	0.75918	T	-0.416311	0.01806	T	-0.353193	0.38839	T	0.0233161398371151	0.01061	T	0.947205	0.84482	D	0.06545577	0.13989	0.118936144	0.28709	0.0611012	0.12614	0.10507422	0.25251	-8.754	0.66099	D	.	.	0.165	0.45211	B	.;.;.;.	.;.;.;.	3.248993	0.44386	21.9	0.99835402700738229	0.91628	0.96725	0.70606	D	AEFDBCI	0.767950	0.70365	D	0.0906392315147007	0.46027	2.849528	0.119157687828386	0.45529	2.814479	0.997171353117234	0.35344	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	4.65	3.57	0.40014	3.154000	0.50391	.	.	0.599000	0.40250	0.976000	0.34826	0.971000	0.29754	0.949000	0.49496	0.1663:0.8337:0.0:0.0	12.719	0.56500	749	0.51929	EGF-like domain|EGF-like calcium-binding domain;EGF-like domain|EGF-like calcium-binding domain;.;EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	713.98	40	chr19	40627738	.	C	T	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-1.184e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/1:29,31:60:99:728,0,632	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,19,0:34:99:0|1:40667975_C_T:686,0,546,731,603,1334:40667975	4	8	8	0
chr19	41094349	41094349	C	A	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon7:c.C1078A:p.Q360K,	.	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.972	D	0.000	U	0.547	D	3.285	M	-0.5	T	0.116	D	0.323	T	0.268	3.294	17.07	3.15	0.998	5.717	11.076	0.422	.	0.0086	0.0081869	0.0024	0.0272	0.0008	0	0	5.993e-05	0	0	0.0023156	358	154602	rs116368403	0.0007	0.0007	0.0009	0.0006	0.0273	0.0007	0.0007	0.0258	0.0252	0.0273	0.0015	0	0	0	0.0007	1.169e-05	0.0014	5.797e-05	0.0072	0.0072	0.0077	0.0068	0.0254	0.0069	0.0067	0.0242	0.0236	0.0254	0	0.0017	0	0	0	0	4.412e-05	0.0057	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	U	0.000000	0.546909	0.32100	D	4.44	0.98786	H	-0.5	0.70480	T	-3.71	0.70674	D	0.845	0.84090	0.116	0.84460	D	0.323	0.69195	T	10	0.023592263	0.00622	T	.	.	.	0.422	0.73078	.	.	0.743530720129	0.74123	0.5913157157551624	0.59061	0.505908923053	0.48822	0.437271863222	0.30204	T	0.206191	0.56546	T	-0.323809	0.06590	T	-0.218309	0.52899	T	0.104952379054455	0.12892	T	0.974103	0.90741	D	0.992242	0.99870	0.96967995	0.99451	0.992242	0.99870	0.96967995	0.99451	-11.007	0.79696	D	.	.	0.778	0.76291	P	.	.	4.135320	0.61910	24.4	0.98991140021590707	0.49943	0.97899	0.77970	D	AEFDBI	0.645262	0.62122	D	0.50676136161011	0.67489	5.088414	0.346070846760895	0.58272	3.99675	0.703792491782663	0.22733	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.19	3.15	0.35301	5.964000	0.70093	4.748000	0.44643	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0:0.9057:0.0:0.0943	11.076	0.47253	716	0.55970	.	.	.	.	.	.	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	0.02381	4555.98	36	chr19	41094349	.	C	A	4555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=1095;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-8.390e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:172,183:355:99:4570,0,4239	20	0	1	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	1.000	D	3.53	H	-4.0	D	1.095	D	0.951	D	0.859	4.691	26.0	3.99	2.214	7.600	15.399	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1076.49	79	chr19	42095399	.	C	G	1076.49	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-3.789e+00;DP=1906;ExcessHet=4.7172;FS=144.686;InbreedingCoeff=-0.3152;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=0.594;SOR=10.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,21:85:99:0|1:42095395_A_G:179,0,1420:42095395	11	0	9	1
chr19	42375804	42375804	A	G	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon41:c.A7366G:p.T2456A	Carpenter syndrome 2, Autosomal recessive	.	424	1089	9	0	0	9	0.00411523	.	.	574992	not_provided|MEGF8-related_Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.08	B	0.015	B	0.005	N	0.940	D	0.695	N	2.08	T	-1.044	T	0.026	T	0.197	-0.994	0.269	2.65	0.848	0.404	4.195	0.022	0.00759160223063	0.0012	0.000399361	0.0007	0	0.0003	0	0	0.0011	0	0.0003	0.0006856	106	154602	rs139192223	0.0010	0.0010	0.0010	0.0010	0.0028	0.0009	0.0009	0.0017	0.0014	5.974e-05	0.0008	0	0	7.624e-05	0.0028	0.0012	0.0008	8.122e-05	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0009	0	0	0	0.0034	0.0013	0.0014	0	0.687	0.04786	T	0.99	0.59732	T	0.007	0.24543	B	0.007	0.17295	B	0.004758	0.33426	N	0.250905	0.903676	0.37270	D	0.69	0.16971	N	2.08	0.20255	T	-1.51	0.37759	N	0.078	0.05287	-1.0443	0.16030	T	0.026	0.11309	T	10	0.0058243275	0.00130	T	0.007592	0.20139	T	0.022	0.04323	.	.	0.082315109003	0.07666	0.47315711403515465	0.47234	0.552710321655	0.52069	0.605184435844	0.53636	T	0.125787	0.45172	T	-0.544514	0.00315	T	-0.590312	0.13638	T	0.00601910847245111	0.00066	T	0.674133	0.29175	T	0.044804946	0.07226	0.045418486	0.06105	0.03812522	0.05018	0.049402796	0.07542	-3.902	0.22333	T	.	.	0.061	0.01109	B	.;.;.	.;.;.	1.737561	0.22111	15.49	0.2974132960014253	0.01592	0.18261	0.20187	N	AEFBI	0.054439	0.09898	N	-0.611698597557831	0.18592	0.9664808	-0.51733406530727	0.21683	1.174102	0.00955033530699278	0.11873	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.06	2.65	0.30588	0.529000	0.22727	5.562000	0.48920	0.756000	0.94297	0.669000	0.28339	1.000000	0.68203	0.938000	0.47775	0.448:0.0:0.0962:0.4557	4.195	0.09898	553	0.71930	.;.;.	.	.	.	.	.	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	0.02381	781.98	34	chr19	42375804	.	A	G	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=769;ExcessHet=0.0000;FS=5.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-4.360e-01;SOR=0.242	GT:AD:DP:GQ:PL	0/1:30,26:56:99:796,0,755	20	0	1	0
chr19	42868932	42868932	T	G	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.A533C:p.Y178S	.	.	17	1499	4	2	0	8	0.00266134	.	.	2201496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.88	H	2.55	T	-1.015	T	0.134	T	0.646	1.777	11.90	1.51	0.654	0.278	4.985	0.131	0.000591120611433	0.0018	0.000599042	0.0013	0.0003	0.0014	0	0	0.0020	0.0033	0.0002	0.0007684	20	26028	rs149977860	0.0016	0.0016	0.0016	0.0016	0.0042	0.0016	0.0016	0.0027	0.0023	0.0004	0.0017	0.0039	0	0.0002	0.0042	0.0018	0.0020	0.0005	0.0012	0.0012	0.0014	0.0011	0.0017	0.0011	0.0010	0.0014	0.0013	0.0003	0	0.0013	0.0069	0	9.441e-05	0.0068	0.0017	0.0033	0.0004	0.001	0.91255	D	0.025	0.57104	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.985	0.85602	M	2.55	0.13795	T	-4.02	0.93999	D	0.492	0.52563	-1.0153	0.25240	T	0.134	0.44778	T	9	0.013652593	0.00289	T	5.91E-4	0.00260	T	0.131	0.35738	.	.	0.209622950755	0.20551	0.2765459755762992	0.27567	0.0463152719668	0.05031	.	.	.	0.013206	0.21454	T	-0.3712	0.03533	T	-0.324994	0.42024	T	0.0743179620431168	0.09245	T	0.873913	0.59828	D	0.68405384	0.77188	0.5369795	0.73243	0.68405384	0.77189	0.5369795	0.73243	-9.312	0.69701	D	.	.	0.287	0.55719	B	.;.;.;.;.;.	.;.;.;.;.;.	1.622116	0.20720	14.88	0.88773503032227863	0.18244	0.01291	0.04495	N	AEFI	0.027060	0.02143	N	-0.122673264950722	0.36406	2.103938	-0.499453950857699	0.22169	1.202804	2.5465997390203E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.51	1.51	0.22094	0.115000	0.15373	-1.297000	0.05784	0.293000	0.18814	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.0:1.0	4.985	0.13531	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	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	0.02381	4091.98	35	chr19	42868932	.	T	G	4091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1901;ExcessHet=0.0000;FS=1.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.09;MQRankSum=-2.446e+00;QD=9.30;ReadPosRankSum=1.47;SOR=0.579	GT:AD:DP:GQ:PL	0/1:264,176:440:99:4106,0,6878	20	0	1	0
chr19	42916256	42916256	G	C	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon2:c.C296G:p.T99R	.	.	10	1498	14	0	0	14	0.00465116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.231	B	0.319	B	.	.	1.000	N	2.115	M	-0.25	T	-0.718	T	0.264	T	0.331	0.555	7.003	-0.034	0.236	-1.586	3.946	0.086	.	0.0026	0.00499201	0.0047	0.0008	0.0008	0	0.0003	0.0034	0.0055	0.0195	0.0044695	691	154602	rs143569741	0.0046	0.0046	0.0042	0.0049	0.0195	0.0045	0.0044	0.0187	0.0184	0.0007	0.0012	0.0011	5.044e-05	0.0003	0.0038	0.0041	0.0044	0.0195	0.0027	0.0027	0.0025	0.0028	0.0169	0.0025	0.0024	0.0139	0.0128	0.0010	0.0066	0.0008	0.0006	0	0.0003	0	0.0038	0.0028	0.0169	0.042	0.41637	D	0.069	0.43913	T	0.005	0.30614	B	0.024	0.41696	B	.	.	.	.	1	0.08975	N	2.625	0.76847	M	-0.25	0.67011	T	-3.06	0.72820	D	0.148	0.18920	-0.7183	0.59546	T	0.264	0.63480	T	9	0.0034293234	0.00060	T	.	.	.	0.086	0.25016	.	.	0.192905019026	0.18896	0.14506165333442325	0.14429	.	.	.	.	.	0.059195	0.31049	T	-0.449284	0.01140	T	-0.415807	0.31556	T	0.0544640921644639	0.06267	T	0.682432	0.29103	T	0.17627425	0.38532	0.13637933	0.32628	0.17627425	0.38531	0.13637933	0.32627	-7.364	0.56650	T	.	.	0.073	0.10835	B	.;.;.;.	.;.;.;.	0.006133	0.04325	1.097	0.90573760340463183	0.19828	0.00464	0.02234	N	AEFGI	0.040070	0.05907	N	-0.932405512763169	0.10090	0.4805695	-1.08778951031158	0.07940	0.3882797	3.33166649766369E-4	0.06583	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.24	-0.0342	0.13225	-2.360000	0.01163	-14.273000	0.00412	-0.447000	0.05153	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.409:0.0:0.591:0.0	3.946	0.08844	749	0.51929	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set 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	0.02381	6612.98	33	chr19	42916256	.	G	C	6612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.740e-01;DP=4026;ExcessHet=0.0000;FS=0.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=-1.488e+00;QD=12.16;ReadPosRankSum=0.073;SOR=0.761	GT:AD:DP:GQ:PL	0/1:286,258:544:99:6627,0,7602	20	0	1	0
chr19	43186387	43186387	G	T	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon1:c.C19A:p.P7T	.	.	13	1507	2	0	0	2	0.00066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.996	D	0.968	D	.	.	1.000	N	1.955	M	5.32	T	-1.040	T	0.012	T	0.246	0.222	5.200	-2.83	-0.789	-1.448	5.397	0.025	0.000511812910594	0.0013	0.000998403	0.0017	0.0003	0.0057	0	0	0.0019	0.0055	0.0003	0.0016365	253	154602	rs140275565	0.0019	0.0020	0.0020	0.0019	0.0036	0.0019	0.0019	0.0032	0.0030	0.0004	0.0036	0.0001	0	0.0003	0.0019	0.0022	0.0022	0.0005	0.0013	0.0013	0.0014	0.0011	0.0021	0.0011	0.0011	0.0017	0.0016	0.0004	0	0.0021	0	0	9.429e-05	0.0136	0.0019	0.0019	0.0006	0.052	0.39334	T	0.087	0.44106	T	0.996	0.68779	D	0.968	0.71741	D	.	.	.	.	1	0.08975	N	2.385	0.68708	M	5.32	0.33842	T	-4.83	0.87300	D	0.098	0.14480	-1.0398	0.17374	T	0.012	0.04747	T	9	0.005730301	0.00128	T	5.12E-4	0.00163	T	0.025	0.05312	.	.	0.276065633971	0.27208	0.2681405630419642	0.26727	0.0816263488406	0.09187	.	.	.	0.017115	0.14019	T	-0.549995	0.00292	T	-0.558801	0.16489	T	0.0419177379352302	0.04041	T	0.955004	0.82846	D	0.07530802	0.16959	0.11951649	0.28848	0.07530802	0.16959	0.11951649	0.28847	-8.805	0.66433	D	.	.	0.073	0.05188	B	.;.;.;.;.;.	.;.;.;.;.;.	0.753017	0.11226	7.859	0.75621911351738313	0.11146	0.00269	0.01464	N	AEFBHI	0.027424	0.02236	N	-0.786047923403124	0.13673	0.6752633	-1.08805447500017	0.07935	0.3880037	0.990889032900073	0.32301	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.41	-2.83	0.05425	-1.653000	0.02088	.	.	0.422000	0.20808	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5394:0.0:0.4606:0.0	5.397	0.15575	798	0.45050	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3019.98	39	chr19	43186387	.	G	T	3019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.230e-01;DP=1804;ExcessHet=0.0000;FS=0.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=-2.038e+00;QD=11.44;ReadPosRankSum=-5.530e-01;SOR=0.609	GT:AD:DP:GQ:PL	0/1:134,130:264:99:3034,0,3199	20	0	1	0
chr19	44011406	44011406	G	A	exonic	ZNF230	.	nonsynonymous SNV	ZNF230:NM_006300:exon5:c.G1367A:p.R456H,	.	.	455	1060	7	0	0	7	0.00329102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.791	P	.	.	1.000	D	1.185	L	2.41	T	-1.115	T	0.036	T	0.083	3.787	19.23	0.908	0.347	0.074	7.203	0.058	0.00118461041216	0.0032	0.00139776	0.0028	0.0005	0.0011	0.0005	0.0018	0.0036	0	0.0035	0.0028331	438	154602	rs141922155	0.0042	0.0042	0.0041	0.0043	0.0047	0.0041	0.0041	0.0046	0.0045	0.0008	0.0019	0.0052	0.0001	0.0024	0.0007	0.0047	0.0032	0.0041	0.0033	0.0033	0.0035	0.0031	0.0054	0.0030	0.0029	0.0049	0.0047	0.0007	0	0.0031	0.0069	0	0.0016	0	0.0054	0.0024	0.0027	0.13	0.26740	T	0.09	0.40267	T	0.997	0.70673	D	0.791	0.57754	P	.	.	.	.	0.995276	0.23330	N	1.555	0.39373	L	2.41	0.15492	T	-0.6	0.17834	N	0.029	0.00666	-1.1145	0.02710	T	0.036	0.15465	T	9	0.012740195	0.00273	T	0.001185	0.01509	T	0.058	0.16647	.	.	0.289847578895	0.28608	0.01977654127965355	0.01930	0.578436699546	0.53752	0.209166675806	0.00776	T	0.007975	0.07346	T	-0.664748	0.00059	T	-0.72586	0.04517	T	0.0159630912259395	0.00379	T	0.328467	0.06836	T	0.027876174	0.02041	0.035562873	0.02832	0.027876174	0.02041	0.035562873	0.02832	-5.268	0.39625	T	.	.	0.110	0.21315	B	.	.	1.497956	0.19258	14.17	0.99749932736054747	0.84152	0.00036	0.00313	N	AEFBCI	0.051627	0.09138	N	-0.369747057008027	0.26553	1.450017	-0.579866756507505	0.20018	1.076673	0.0100973858468435	0.11966	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	1.99	0.908	0.18455	-0.048000	0.11898	.	.	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.1628:0.0:0.8372:0.0	7.203	0.25065	599	0.68140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1376.98	33	chr19	44011406	.	G	A	1376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.607e+00;DP=809;ExcessHet=0.0000;FS=1.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=0.039;SOR=0.496	GT:AD:DP:GQ:PL	0/1:39,54:93:99:1391,0,989	20	0	1	0
chr19	44086698	44086698	G	T	exonic	ZNF284	.	nonsynonymous SNV	ZNF284:NM_001037813:exon5:c.G1220T:p.R407I,	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.507	P	0.251	B	.	.	1.000	N	1.745	L	2.11	T	-1.003	T	0.029	T	0.143	1.348	10.43	-3.08	-0.303	-0.907	1.290	0.018	0.00112853160472	0.0032	0.00139776	0.0026	0.0004	0.0011	0.0001	0.0017	0.0036	0	0.0032	0.0027361	423	154602	rs192483922	0.0041	0.0041	0.0040	0.0041	0.0045	0.0040	0.0039	0.0044	0.0044	0.0007	0.0015	0.0051	0.0001	0.0023	0.0007	0.0045	0.0029	0.0039	0.0029	0.0029	0.0032	0.0027	0.0049	0.0027	0.0026	0.0045	0.0043	0.0006	0	0.0022	0.0069	0	0.0016	0	0.0049	0.0019	0.0027	0.011	0.55530	D	0.06	0.45744	T	0.507	0.37264	P	0.251	0.39041	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	2.11	0.19860	T	-1.35	0.33598	N	0.157	0.16308	-1.0030	0.29050	T	0.029	0.12234	T	9	0.008793741	0.00199	T	0.001129	0.01385	T	0.018	0.03083	.	.	0.117506650769	0.11410	0.04932101501447625	0.04875	0.0765624021012	0.08593	0.276010513306	0.06943	T	0.002266	0.01662	T	-0.585759	0.00178	T	-0.613638	0.11691	T	0.00352978434269478	0.00037	T	0.767423	0.39577	T	0.04909126	0.08663	0.08429646	0.19382	0.04909126	0.08663	0.08429646	0.19382	-5.344	0.40376	T	.	.	0.118	0.23986	B	.	.	1.493628	0.19208	14.15	0.91581046666860466	0.20862	0.05863	0.11809	N	AEFBI	0.030152	0.02980	N	-0.991292101426629	0.08789	0.4134385	-1.19101242835643	0.06060	0.2905255	2.49233569194229E-4	0.06141	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	2.59	-3.08	0.05022	0.143000	0.15936	.	.	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.219000	0.22435	0.3343:0.1454:0.3736:0.1467	1.290	0.01933	670	0.60992	Zinc finger C2H2-type	.	.	.	.	.	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	0.02381	2021.98	83	chr19	44086698	.	G	T	2021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.544e+00;DP=1570;ExcessHet=0.0000;FS=6.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.556;SOR=0.578	GT:AD:DP:GQ:PL	0/1:87,76:163:99:2036,0,2451	20	0	1	0
chr19	45419130	45419130	C	T	exonic	ERCC1	.	nonsynonymous SNV	ERCC1:NM_001369411:exon4:c.G493A:p.A165T	Cerebrooculofacioskeletal syndrome 4, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.884	P	0.109	B	0.011	N	0.658	D	0.55	N	0.94	T	-1.016	T	0.045	T	0.126	2.121	13.05	3.59	2.159	2.697	9.989	0.043	0.00454591223057	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758217738	1.598e-05	1.71e-05	1.654e-05	1.541e-05	2.415e-05	1.064e-05	8.89e-06	1.104e-05	8.9e-06	0	0	0	0	0	0	1.727e-05	3.362e-05	2.415e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.556	0.06461	T	0.573	0.09113	T	0.79	0.44599	P	0.062	0.26930	B	0.010710	0.29815	N	0.342406	0.65807	0.33026	D	0.405	0.12330	N	0.94	0.44461	T	-1.14	0.30762	N	0.2	0.29774	-1.0163	0.24916	T	0.045	0.19356	T	10	0.1454336	0.27587	T	0.004546	0.11189	T	0.043	0.11576	0.308	0.27967	0.380223377699	0.37629	0.21598456024666457	0.21514	0.142922433737	0.16124	0.467398941517	0.34324	T	0.209293	0.56946	T	-0.241111	0.15206	T	-0.584116	0.14179	T	0.387334677316622	0.28463	T	0.919908	0.82903	D	0.13537693	0.31420	0.10549051	0.25360	0.13537693	0.31420	0.10549051	0.25359	-6.556	0.50716	T	0.09384808221118544	0.06217	0.075	0.09820	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.107739	0.41911	21.4	0.98633424943394454	0.43947	0.53168	0.29306	D	AEFDGBCI	0.188974	0.31624	N	-0.112790991197356	0.36834	2.135	0.0231346342551424	0.40791	2.440121	0.999999027188126	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.71	3.59	0.40253	2.964000	0.48885	3.176000	0.36634	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.985000	0.61073	0.0:0.7938:0.2062:0.0	9.989	0.41030	884	0.28482	.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	507.98	35	chr19	45419130	.	C	T	507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.202e+00;DP=760;ExcessHet=0.0000;FS=5.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=2.23;SOR=1.061	GT:AD:DP:GQ:PL	0/1:25,23:48:99:522,0,639	20	0	1	0
chr19	46018311	46018311	C	T	exonic	CCDC61	.	nonsynonymous SNV	CCDC61:NM_001267723:exon14:c.C1463T:p.A488V,	.	.	392	1115	15	0	0	15	0.00668151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.001	B	0.150	N	1.000	N	1.155	L	.	.	-1.039	T	0.071	T	0.042	1.972	12.55	2.39	0.355	0.636	6.313	0.018	.	0.0006	0.00359425	0.0059	0.0008	0.0112	0	0	0.0022	0.0037	0.0151	0.0018434	285	154602	rs200930017	0.0015	0.0015	0.0012	0.0019	0.0131	0.0015	0.0014	0.0125	0.0122	0.0002	0.0015	0.0001	0.0001	0.0001	0.0129	0.0008	0.0014	0.0131	0.0010	0.0010	0.0008	0.0011	0.0130	0.0009	0.0008	0.0105	0.0095	9.622e-05	0	0.0008	0	0.0002	0	0.0136	0.0010	0.0009	0.0130	0.01	0.56456	D	0.106	0.37872	T	.	.	.	.	.	.	0.150065	0.17997	N	0.565165	0.999996	0.08975	N	2.015	0.55033	M	.	.	.	-0.15	0.09297	N	0.1	0.19593	-1.0391	0.17587	T	0.071	0.29034	T	9	0.0035758913	0.00065	T	.	.	.	0.018	0.03083	.	.	0.229264304666	0.22521	0.3306702447853706	0.32980	0.833967175837	0.67741	0.409634768963	0.26406	T	0.003717	0.03121	T	-0.637576	0.00086	T	-0.677579	0.07132	T	0.0187710791674414	0.00589	T	0.610839	0.23175	T	0.020563293	0.00619	0.057317853	0.10398	0.020563293	0.00619	0.057317853	0.10398	-5.148	0.45909	T	.	.	0.095	0.32469	B	.;.;.	.;.;.	2.282466	0.29185	18.04	0.98973339018356021	0.49580	0.14098	0.18221	N	AEFDBI	0.077167	0.15541	N	-0.822255558081436	0.12742	0.6230783	-0.756162632851209	0.15572	0.8195905	0.00144421728894764	0.08543	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.61	2.39	0.28492	0.246000	0.17935	0.534000	0.19274	-0.856000	0.02670	0.267000	0.25017	0.066000	0.22130	0.776000	0.36750	0.0:0.699:0.1949:0.1061	6.313	0.20384	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1429.11	36	chr19	46018311	.	C	T	1429.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.36;DP=860;ExcessHet=0.1072;FS=2.988;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=1.02;SOR=0.475	GT:AD:DP:GQ:PL	0/1:45,21:66:99:524,0,1047	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.112	B	0.028	B	.	.	1.000	N	.	.	1.92	T	-1.014	T	0.040	T	0.794	0.114	4.614	0.983	0.689	-0.261	4.179	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	0.02381	1774.98	34	chr19	46148279	.	A	G	1774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.271e+00;DP=838;ExcessHet=0.0000;FS=1.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-7.370e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:64,81:145:99:1789,0,1553	20	0	1	0
chr19	46160724	46160724	G	A	exonic	IGFL2	.	nonsynonymous SNV	IGFL2:NM_001135113:exon3:c.G184A:p.E62K	.	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.083	B	0.014	B	.	.	1.000	N	0.345	N	2.24	T	-1.012	T	0.020	T	0.125	0.548	6.965	-5.65	-2.544	-2.561	7.865	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3195.98	34	chr19	46160724	.	G	A	3195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=1083;ExcessHet=0.0000;FS=0.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.480;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,132:282:99:0|1:46160724_G_A:3210,0,5740:46160724	20	0	1	0
chr19	46160730	46160730	C	T	exonic	IGFL2	.	nonsynonymous SNV	IGFL2:NM_001135113:exon3:c.C190T:p.R64C	.	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.953	P	0.453	P	.	.	1.000	N	1.04	L	1.66	T	-1.030	T	0.058	T	0.221	1.987	12.60	-1.06	-0.106	-0.131	8.339	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5090.98	34	chr19	46160730	.	C	T	5090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=1074;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.31;ReadPosRankSum=-3.880e-01;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,135:278:99:0|1:46160724_G_A:5105,0,3446:46160724	20	0	1	0
chr19	47539772	47539772	G	A	exonic	ZNF541	.	nonsynonymous SNV	ZNF541:NM_001277075:exon8:c.C2729T:p.A910V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.886	P	0.214	N	1.000	N	0.805	L	1.4	T	-1.024	T	0.098	T	0.389	2.759	15.19	4.79	2.471	3.806	13.173	0.070	0.0166385849052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.034	0.52727	D	0.989	0.62824	D	0.773	0.56974	P	0.213972	0.16298	N	0.558247	1	0.08975	N	1.845	0.48678	L	1.4	0.33630	T	-1.1	0.28497	N	0.28	0.31702	-1.0243	0.22311	T	0.098	0.36625	T	10	0.17628348	0.32604	T	0.016639	0.37992	T	0.154	0.40340	0.086	0.00867	0.139678290688	0.13603	0.08297575694763148	0.08232	.	.	0.393351495266	0.24141	T	0.001339	0.00808	T	-0.126284	0.32100	T	-0.419174	0.31169	T	0.786299228668213	0.45449	D	0.548745	0.18852	T	0.11070669	0.26165	0.14429817	0.34263	0.11070669	0.26165	0.14429817	0.34262	-3.061	0.10854	T	.	.	0.114	0.23148	B	.;.	.;.	1.621345	0.20707	14.87	0.99022814253033598	0.50613	0.66895	0.33238	D	AEFDBI	0.182410	0.30974	N	-0.114591886147459	0.36758	2.12898	-0.126374206824787	0.34331	1.973563	0.99678668524881	0.35006	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	4.79	4.79	0.60909	4.206000	0.58271	2.282000	0.31903	0.658000	0.54486	0.439000	0.26479	0.940000	0.28757	0.052000	0.15357	0.0:0.0:1.0:0.0	13.173	0.59031	856	0.34373	.;.	.	.	.	.	.	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	0.02381	1026.98	40	chr19	47539772	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.808;DP=797;ExcessHet=0.0000;FS=1.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.242;SOR=0.966	GT:AD:DP:GQ:PL	0/1:43,40:83:99:1041,0,1035	20	0	1	0
chr19	48136115	48136115	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon13:c.G1138A:p.G380R	DNA ligase I deficiency (3)	.	.	.	.	.	.	.	.	.	.	1550286	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	1.0	D	1.0	D	0.000	N	1.000	D	2.435	M	2.08	T	-0.916	T	0.149	T	0.909	5.016	29.6	4.99	2.491	3.941	16.218	0.362	0.0682593496008	.	0.000798722	0.0006	0	0.0013	0.0056	0	0.0001	0.0056	0.0004	0.0002005	31	154602	rs139908769	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0030	0.0028	0	2.604e-05	0	0.0035	0	0	3.032e-05	0.0002	0.0007	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	0	0	0	0	0.0052	0	0	0.0001	0	0.0006	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.965	0.97372	D	0.000001	0.84330	N	0.053568	1	0.81001	D	2.75	0.80375	M	2.08	0.20255	T	-7.99	0.96426	D	0.729	0.75650	-0.9164	0.46037	T	0.149	0.47540	T	10	0.024110198	0.00652	T	0.068259	0.70401	D	0.362	0.68230	0.775	0.90080	0.441844919209	0.43804	0.8386880164705979	0.83828	1.05361816438	0.76248	0.803375005722	0.82478	D	0.316603	0.68813	T	-0.093652	0.37471	T	0.0953108	0.76598	D	0.21166191351648	0.21040	T	0.996578	0.98962	D	0.8875633	0.90299	0.7779542	0.86904	0.8875633	0.90300	0.7779542	0.86905	-12.833	0.89281	D	.	.	0.298	0.55685	B	.;.;.;.	.;.;.;.	5.198759	0.87212	29.2	0.99924538721071599	0.98980	0.91591	0.53849	D	AEFBI	0.523324	0.54697	D	0.69625442273053	0.79387	7.066907	0.652705413642944	0.78811	6.952274	0.999999984319403	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.99	4.99	0.65942	4.140000	0.57795	7.517000	0.59705	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.269000	0.23743	0.0:1.0:0.0:0.0	16.218	0.82059	846	0.36215	DNA ligase, ATP-dependent, N-terminal;DNA ligase, ATP-dependent, 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	0.02381	1351.98	41	chr19	48136115	.	C	T	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=1058;ExcessHet=0.0000;FS=2.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.780;SOR=0.439	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1366,0,1286	20	0	1	0
chr19	48612943	48612943	C	G	exonic	FAM83E	.	nonsynonymous SNV	FAM83E:NM_017708:exon3:c.G430C:p.E144Q,	.	.	422	1076	24	0	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.251	B	0.132	B	0.001	N	0.565	N	2.115	M	2.38	T	-1.053	T	0.037	T	0.202	2.495	14.30	4.32	1.378	1.662	14.092	0.091	.	0.0036	0.00279553	0.0151	0.0026	0.0030	0	0.0698	0.0198	0.0095	0.0124	0.0035347	92	26028	rs144922959	0.0056	0.0056	0.0055	0.0057	0.0090	0.0055	0.0055	0.0084	0.0082	0.0007	0.0022	0.0021	2.615e-05	0.0199	0.0053	0.0053	0.0048	0.0090	0.0053	0.0053	0.0047	0.0060	0.0065	0.0050	0.0049	0.0060	0.0058	0.0010	0.0307	0.0029	0.0014	0	0.0191	0.0034	0.0065	0.0061	0.0062	0.097	0.30943	T	0.057	0.55341	T	0.251	0.31212	B	0.132	0.33005	B	0.000783	0.41772	N	0.194180	0.564695	0.31228	N	2.285	0.65182	M	2.38	0.15843	T	-1.57	0.37955	N	0.222	0.24883	-1.0529	0.13601	T	0.037	0.15986	T	10	0.008989662	0.00203	T	.	.	.	0.091	0.26358	.	.	0.260735089382	0.25697	0.607910831339999	0.60723	0.291684175593	0.31578	0.400802254677	0.25180	T	0.033081	0.22763	T	-0.546146	0.00308	T	-0.551727	0.17161	T	0.0221097732247113	0.00922	T	0.708229	0.31875	T	0.17021164	0.37583	0.096265286	0.22865	0.17021164	0.37582	0.096265286	0.22865	-6.732	0.52051	T	.	.	0.140	0.30791	B	.;.	.;.	3.268119	0.44723	22.0	0.9961531712173114	0.75052	0.78484	0.38727	D	AEFBCI	0.505119	0.53640	D	-0.128154318384685	0.36169	2.087091	-0.0750261702795989	0.36427	2.119697	0.999999743710461	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.38	4.32	0.50899	1.933000	0.39783	3.998000	0.41048	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.848:0.152:0.0	14.092	0.64522	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	542.98	33	chr19	48612943	.	C	G	542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=748;ExcessHet=0.0000;FS=1.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.014;SOR=0.392	GT:AD:DP:GQ:PL	0/1:20,20:40:99:557,0,474	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:21,0,0,33:57:99:.:.:1136,1328,2527,1328,2527,2527,0,838,838,755	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:21,0,0,33:57:99:.:.:1136,1328,2527,1328,2527,2527,0,838,838,755	5	4	8	0
chr19	49616159	49616159	G	A	exonic	PRR12	.	nonsynonymous SNV	PRR12:NM_020719:exon9:c.G5437A:p.G1813R,	.	.	412	1099	11	0	0	11	0.00497963	.	.	2818598	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.002	B	0.056	N	0.999	N	0.69	N	.	.	-1.091	T	0.061	T	0.249	2.091	12.95	3.72	2.507	1.728	7.149	0.035	0.00523459104631	.	0.000399361	0.0014	0	0.0017	0	0	0.0007	0	0.0035	0.0004204	65	154602	rs575045686	0.0004	0.0004	0.0004	0.0005	0.0048	0.0004	0.0004	0.0034	0.0029	3.112e-05	0.0004	0	2.724e-05	0	0.0048	0.0003	0.0004	0.0021	0.0003	0.0003	0.0002	0.0004	0.0023	0.0002	0.0002	0.0013	0.0010	2.406e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0023	0.181	0.21884	T	0.138	0.37589	T	0.001	0.07471	B	0.002	0.06944	B	0.056254	0.22575	N	0.325941	0.999494	0.21100	N	0.69	0.16971	N	.	.	.	-1.32	0.32991	N	0.231	0.25989	-1.0909	0.05383	T	0.061	0.25635	T	9	0.009221971	0.00208	T	0.005235	0.13341	T	0.035	0.08770	0.268	0.21576	0.0934897674506	0.08844	0.5002204742617575	0.49943	1.15477031298	0.79331	0.653204441071	0.60441	T	0.007512	0.06912	T	-0.463009	0.00941	T	-0.443715	0.28393	T	0.0362889213210903	0.03032	T	0.727427	0.36376	T	0.06152916	0.12751	0.08645577	0.20030	0.06152916	0.12751	0.08645577	0.20030	.	.	.	.	.	0.231	0.52102	B	.;.	.;.	4.251278	0.64538	24.7	0.99722372962702299	0.82125	0.79106	0.39137	D	AEFBI	0.106450	0.21238	N	-0.38024584700704	0.26174	1.426465	-0.251383694461775	0.29724	1.667626	0.00124049920714649	0.08362	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.81	3.72	0.41857	0.667000	0.24794	7.176000	0.57738	0.526000	0.24426	0.086000	0.22486	1.000000	0.68203	0.291000	0.24285	0.1237:0.0:0.8763:0.0	7.149	0.24776	759	0.50631	.;.	.	.	.	.	.	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	0.02381	600.98	36	chr19	49616159	.	G	A	600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=794;ExcessHet=0.0000;FS=3.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.46;ReadPosRankSum=-5.750e-01;SOR=1.143	GT:AD:DP:GQ:PL	0/1:44,27:71:99:615,0,1020	20	0	1	0
chr19	50908801	50908801	T	C	exonic	KLK4	.	nonsynonymous SNV	KLK4:NM_004917:exon3:c.A253G:p.S85G,	Amelogenesis imperfecta, type IIA1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2361287	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.961	D	0.685	P	0.008	N	1.000	N	1.325	L	-3.17	D	0.010	D	0.712	D	0.276	1.920	12.38	1.42	0.592	0.922	5.244	0.313	0.0364593263154	.	0.000199681	0.0001	9.664e-05	0.0003	0	0	3.015e-05	0	0.0005	0.0001164	18	154602	rs529400471	6.022e-05	6.02e-05	3.949e-05	8.117e-05	0.0005	4.963e-05	4.628e-05	0.0004	0.0003	0	0.0003	3.826e-05	0	0	0	2.518e-05	6.623e-05	0.0005	6.588e-05	6.568e-05	6.439e-05	6.743e-05	0.0008	3.525e-05	2.622e-05	0.0003	0.0002	7.252e-05	0	0	0	0	0	0	4.415e-05	0	0.0008	0.029	0.45756	D	0.037	0.52389	D	.	.	.	.	.	.	0.007840	0.31171	N	0.150079	1	0.08975	N	.	.	.	-3.17	0.93054	D	-2.18	0.49187	N	0.264	0.29889	0.010	0.82465	D	0.712	0.90123	D	10	0.13943785	0.26512	T	0.036459	0.57003	D	0.313	0.63482	0.543	0.65589	0.910483753794	0.90958	0.6670491479681954	0.66642	0.496559253354	0.48160	0.341797202826	0.16707	T	.	.	.	-0.210981	0.19240	T	-0.191404	0.55458	T	0.0953084900975227	0.11833	T	0.661834	0.27067	T	.	.	.	.	.	.	.	.	-8.787	0.66316	D	.	.	0.247	0.48198	B	.;.	.;.	1.991990	0.25307	16.72	0.97953228418674165	0.37122	0.30926	0.24207	N	AEFDBI	0.041473	0.06309	N	-0.188401938213646	0.33616	1.909204	-0.344618245267457	0.26675	1.475005	0.380525415041232	0.19956	0.554377	0.28877	0	0.588066	0.40923	0	0.507148	0.09336	0	0.530356	0.10902	0	.	.	3.82	1.42	0.21524	0.969000	0.28967	-0.377000	0.09567	-0.144000	0.12334	0.984000	0.35821	0.000000	0.08366	0.377000	0.26268	0.1745:0.0:0.1792:0.6464	5.244	0.14804	799	0.44747	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1455.98	35	chr19	50908801	.	T	C	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.537e+00;DP=818;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.14;SOR=0.954	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1470,0,1495	20	0	1	0
chr19	51965274	51965274	T	G	exonic	ZNF350	.	nonsynonymous SNV	ZNF350:NM_021632:exon5:c.A1179C:p.Q393H,	.	.	386	1122	12	2	0	16	0.00707965	.	.	2818707	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.059	B	0.042	B	0.003	N	1.000	N	1.755	L	3.18	T	-1.022	T	0.021	T	0.329	1.806	12.00	-3.03	-0.683	-2.114	10.996	0.055	0.00145382532368	0.0014	0.00139776	0.0017	0.0002	0.0008	0	0.0005	0.0014	0	0.0061	0.0016623	257	154602	rs4988335	0.0017	0.0017	0.0016	0.0017	0.0085	0.0016	0.0016	0.0066	0.0059	0.0002	0.0008	0.0001	2.519e-05	0.0003	0.0085	0.0015	0.0022	0.0055	0.0011	0.0011	0.0011	0.0012	0.0046	0.0010	0.0009	0.0031	0.0026	0.0004	0	0.0008	0	0	0.0002	0.0034	0.0017	0	0.0046	0.058	0.37750	T	0.073	0.43159	T	0.059	0.23051	B	0.042	0.24114	B	0.003175	0.35330	N	0.000000	0.999981	0.18198	N	1.555	0.39373	L	3.18	0.07478	T	-3.84	0.72240	D	0.183	0.19861	-1.0223	0.22965	T	0.021	0.08732	T	10	0.007285595	0.00166	T	0.001454	0.02189	T	0.055	0.15663	0.554	0.67133	0.117506650769	0.11410	0.13985376483419276	0.13908	0.744836898648	0.63452	0.479540765285	0.35993	T	0.108632	0.42184	T	-0.558061	0.00261	T	-0.572196	0.15249	T	0.0498061578783311	0.05466	T	0.447355	0.12562	T	0.35781085	0.57669	0.27973923	0.53944	0.35781085	0.57669	0.27973923	0.53943	-5.577	0.42582	T	.	.	0.823	0.78383	P	.	.	1.392598	0.18056	13.52	0.98199288933276874	0.39105	0.19220	0.20575	N	AEFDBCI	0.077809	0.15685	N	-0.847201414148941	0.12119	0.5888097	-0.920739106781187	0.11605	0.5922507	6.92460446046409E-4	0.07645	0.631515	0.41029	0	0.697927	0.68747	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.41	-3.03	0.05100	-2.109000	0.01422	.	.	0.601000	0.45875	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.615:0.0:0.385	10.996	0.46792	982	0.03397	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	0.02381	1801.98	39	chr19	51965274	.	T	G	1801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.929;DP=1380;ExcessHet=0.0000;FS=0.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.09;ReadPosRankSum=1.22;SOR=0.813	GT:AD:DP:GQ:PL	0/1:49,63:112:99:1816,0,1313	20	0	1	0
chr19	54076246	54076249	CTTT	-	exonic	TARM1	.	frameshift deletion	TARM1:NM_001330650:exon1:c.27_30del:p.R12Kfs*41,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0004	0	0	0.0071	0	0.0004	0	0.0003	0.0002305	6	26028	rs587744412	0.0019	0.0019	0.0019	0.0019	0.0022	0.0018	0.0018	0.0021	0.0021	0.0006	0.0013	0.0003	0.0014	0.0005	0.0004	0.0022	0.0014	0.0002	0.0017	0.0017	0.0018	0.0015	0.0029	0.0015	0.0015	0.0025	0.0024	0.0006	0	0.0011	0	0.0029	0.0005	0	0.0028	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1766.94	44	chr19	54076245	.	CCTTT	C	1766.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.984e+00;DP=937;ExcessHet=0.0000;FS=2.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.79;ReadPosRankSum=0.306;SOR=0.453	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1781,0,1430	20	0	1	0
chr19	54168618	54168618	C	T	exonic	TMC4	.	nonsynonymous SNV	TMC4:NM_001145303:exon4:c.G523A:p.V175M	.	.	143	1375	4	0	0	4	0.00145243	.	.	2330274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.552	P	0.094	B	0.184	N	1.000	D	1.54	L	0.98	T	-1.057	T	0.069	T	0.3	1.685	11.59	1.92	0.858	0.029	3.656	0.039	0.0502262193264	.	.	0.0002	0	0	0	0	0.0003	0.0030	0.0001	0.0001035	16	154602	rs772052187	9.281e-05	9.713e-05	8.522e-05	0.0001	0.0023	7.989e-05	7.457e-05	0.0014	0.0011	3.018e-05	4.754e-05	0	0	0	0.0023	8.519e-05	0.0002	0.0001	5.941e-05	5.913e-05	7.737e-05	4.057e-05	0.0001	3.09e-05	2.219e-05	6.816e-05	5.096e-05	0	0	0	0	0	0	0	0.0001	0	0	0.084	0.32929	T	0.057	0.46632	T	.	.	.	.	.	.	0.184052	0.17024	N	0.582606	0.999607	0.20887	N	.	.	.	0.98	0.42122	T	-0.41	0.14000	N	0.287	0.32812	-1.0568	0.12569	T	0.069	0.28313	T	10	0.18887287	0.34462	T	0.050226	0.64151	D	0.039	0.10176	0.469	0.54214	0.492404595834	0.48873	0.2693207544665042	0.26845	.	.	0.506427943707	0.39723	T	0.009826	0.08919	T	-0.345864	0.04992	T	-0.47954	0.24496	T	0.0351790749495487	0.02839	T	0.633437	0.24876	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.;.;.	.;.;.	1.429020	0.18466	13.75	0.97847522170714418	0.36372	0.21501	0.21424	N	ALL	0.272323	0.38798	N	-0.258925140276037	0.30747	1.717434	-0.253939523740027	0.29635	1.661939	0.999999999952212	0.74766	0.685219	0.55550	0	0.567169	0.20442	1	0.674405	0.61402	0	0.825845	0.99933	0	.	.	4.2	1.92	0.24912	0.218000	0.17407	.	.	0.587000	0.30956	0.934000	0.32416	0.000000	0.08366	0.747000	0.35681	0.1492:0.4427:0.3115:0.0967	3.656	0.07759	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	539.98	37	chr19	54168618	.	C	T	539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.320e-01;DP=840;ExcessHet=0.0000;FS=4.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-1.491e+00;SOR=0.248	GT:AD:DP:GQ:PL	0/1:23,24:47:99:554,0,527	20	0	1	0
chr19	54587233	54587233	G	A	exonic	LILRA2	.	nonsynonymous SNV	LILRA2:NM_001290270:exon6:c.G1252A:p.V418M	.	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.996	D	0.939	D	0.011	N	1.000	N	1.89	L	6.97	T	-0.901	T	0.005	T	0.348	1.548	11.13	1.69	1.526	-0.271	4.905	0.121	.	.	0.00998403	0.0052	0	0.0003	0.0001	0	2.997e-05	0	0.0377	0.0045989	711	154602	rs377042732	0.0021	0.0022	0.0012	0.0031	0.0337	0.0021	0.0020	0.0327	0.0323	8.961e-05	4.472e-05	0	5.038e-05	0	0.0007	2.068e-05	0.0029	0.0337	0.0013	0.0014	0.0009	0.0018	0.0395	0.0012	0.0011	0.0349	0.0332	9.63e-05	0	0	0	0.0004	0	0	4.411e-05	0.0014	0.0395	0.208	0.19782	T	0.2	0.27591	T	0.988	0.62325	D	0.808	0.58514	P	0.011403	0.01305	N	3.607130	1	0.18198	N	.	.	.	6.97	0.00494	T	-0.83	0.24460	N	0.205	0.27077	-0.9013	0.47857	T	0.005	0.01615	T	10	0.003334105	0.00058	T	.	.	.	0.121	0.33580	0.434	0.48500	0.361558571881	0.35766	0.09159311947339123	0.09092	0.072316980376	0.08112	.	.	.	0.010693	0.09633	T	-0.580136	0.00192	T	-0.579641	0.14576	T	0.0200827617830714	0.00709	T	0.833317	0.50212	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.28116	B	.;.;.;.;.	.;.;.;.;.	1.364680	0.17740	13.34	0.99239800419703561	0.56501	0.01327	0.04579	N	AEFBI	0.069972	0.13873	N	-0.27118351665017	0.30265	1.685982	-0.508387749701442	0.21925	1.188397	1.68489167529508E-4	0.05721	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.74	1.69	0.23290	-0.605000	0.05757	.	.	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.123000	0.19290	0.1792:0.0:0.8208:0.0	4.905	0.13147	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2668.98	33	chr19	54587233	.	G	A	2668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.414;DP=946;ExcessHet=0.0000;FS=3.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.529;SOR=0.506	GT:AD:DP:GQ:PL	0/1:123,106:229:99:2683,0,3115	20	0	1	0
chr19	54594895	54594895	G	A	exonic	LILRA1	.	nonsynonymous SNV	LILRA1:NM_001278319:exon3:c.G301A:p.G101S	.	.	14	1505	3	0	0	3	0.000995685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.986	D	0.745	P	0.000	N	1.000	N	-0.22	N	5.92	T	-0.988	T	0.003	T	0.167	0.794	8.184	-3.16	-0.979	-7.095	2.108	0.091	.	.	0.00678914	0.0036	0	0.0003	0.0002	0	0	0	0.0259	0.0031565	488	154602	rs201715627	0.0015	0.0015	0.0009	0.0021	0.0237	0.0015	0.0014	0.0229	0.0225	2.987e-05	4.473e-05	0	0.0002	0	0.0007	1.799e-05	0.0020	0.0237	0.0010	0.0010	0.0007	0.0012	0.0265	0.0008	0.0008	0.0228	0.0214	0.0001	0	6.533e-05	0	0.0008	0	0	5.882e-05	0.0014	0.0265	0.393	0.10730	T	0.409	0.14588	T	0.093	0.61523	B	0.083	0.55870	B	0.000000	0.00162	N	8.473480	1	0.08975	N	-0.195	0.04202	N	5.92	0.00621	T	0.1	0.16799	N	0.1	0.08227	-0.9881	0.33077	T	0.003	0.00832	T	10	0.0028571486	0.00046	T	.	.	.	0.091	0.26358	.	.	0.0297737177859	0.01360	0.06064675443020376	0.06004	0.0258598480746	0.02640	0.232274666429	0.02141	T	1.63E-4	0.00025	T	-0.671528	0.00054	T	-0.717783	0.04904	T	0.0519666922231313	0.05841	T	.	.	.	0.088846505	0.20739	0.09042751	0.21204	0.088846505	0.20739	0.09042751	0.21203	-4.087	0.31856	T	.	.	0.104	0.21653	B	.;.	.;.	-0.900205	0.00925	0.035	0.86717309694172229	0.16725	0.00044	0.00357	N	AEFBI	0.033420	0.03961	N	-1.61299750278277	0.01201	0.05221125	-1.78236775774007	0.00817	0.03649151	0.999920003164853	0.46280	0.59774	0.34471	0	0.596491	0.49125	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-3.16	0.04897	-3.387000	0.00542	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3495:0.0:0.1803:0.4702	2.108	0.03472	946	0.12043	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3083.98	152	chr19	54594895	.	G	A	3083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=2929;ExcessHet=0.0000;FS=6.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.82;MQRankSum=1.64;QD=11.38;ReadPosRankSum=1.37;SOR=0.714	GT:AD:DP:GQ:PL	0/1:144,127:271:99:3098,0,3429	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|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	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,107,0:374:99:0|1:54633108_T_G:3689,0,10818,4493,11140,15633:54633108	1	0	19	0
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:171,205,0:376:99:5155,0,4828,5668,5443,11111	6	0	14	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.953	D	.	.	1.000	N	1.66	L	7.17	T	-0.907	T	0.003	T	0.251	0.161	4.868	-1.94	-0.713	0.615	4.008	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	21150.31	340	chr19	54752378	.	A	T	21150.31	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-3.320e+00;DP=5262;ExcessHet=5.2939;FS=0.000;InbreedingCoeff=-0.2512;MLEAC=17;MLEAF=0.425;MQ=55.87;MQRankSum=-1.639e+01;QD=5.39;ReadPosRankSum=2.32;SOR=0.699	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1634,186,0	6	2	12	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.073	B	.	.	1.000	N	1.885	L	7.21	T	-0.958	T	0.001	T	0.079	-0.731	0.875	-2.12	-2.428	-1.068	4.380	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	28617.15	340	chr19	54752434	.	G	C	28617.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.210e+00;DP=6144;ExcessHet=5.2939;FS=7.479;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.79;MQRankSum=-1.832e+01;QD=6.00;ReadPosRankSum=1.58;SOR=1.014	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1485,163,0	6	2	12	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.003	B	.	.	1.000	N	1.1	L	7.14	T	-0.946	T	0.001	T	0.168	-0.325	2.456	-1.82	-2.219	0.300	4.091	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	33791.15	340	chr19	54752445	.	C	T	33791.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.020e-01;DP=6238;ExcessHet=5.2939;FS=10.711;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.95;MQRankSum=-1.853e+01;QD=6.90;ReadPosRankSum=-2.400e-01;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:54752445_C_T:2500,169,0:54752445	6	2	12	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.004	B	.	.	1.000	N	0.74	N	7.07	T	-0.942	T	0.001	T	0.034	-1.003	0.256	-0.268	-0.552	-0.743	3.096	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	17127.06	73	chr19	54752485	.	T	C	17127.06	.	AC=15;AF=0.375;AN=40;BaseQRankSum=1.81;DP=4524;ExcessHet=3.6553;FS=28.218;InbreedingCoeff=-0.1733;MLEAC=16;MLEAF=0.400;MQ=57.11;MQRankSum=-1.853e+01;QD=4.19;ReadPosRankSum=-2.676e+00;SOR=2.729	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,39:39:99:1|1:54752482_T_C:1728,117,0:54752482	7	2	11	1
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	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.801	P	.	.	1.000	N	1.7	L	7.23	T	-0.964	T	0.002	T	0.108	-0.217	2.948	-1.82	-2.079	-1.122	6.337	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.275	5860.81	73	chr19	54752511	.	G	A	5860.81	.	AC=11;AF=0.275;AN=40;BaseQRankSum=4.75;DP=3070;ExcessHet=0.4926;FS=36.779;InbreedingCoeff=0.1222;MLEAC=11;MLEAF=0.275;MQ=57.65;MQRankSum=-1.666e+01;QD=2.73;ReadPosRankSum=-1.190e-01;SOR=4.105	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,13:13:39:1|1:54752511_G_A:565,39,0:54752511	11	2	7	1
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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,22:178:99:0|1:54760643_A_G:454,0,6405:54760643	8	0	13	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11917.16	37	chr19	54760651	.	G	C	11917.16	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.207e+00;DP=4125;ExcessHet=11.8493;FS=0.785;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=54.02;MQRankSum=-7.539e+00;QD=3.52;ReadPosRankSum=-5.850e-01;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,25:183:99:0|1:54760643_A_G:574,0,6528:54760643	8	0	13	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	5323.44	37	chr19	54760659	.	G	A	5323.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.612e+00;DP=4063;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=53.72;MQRankSum=-6.027e+00;QD=3.24;ReadPosRankSum=-3.710e-01;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,33:188:99:0|1:54760643_A_G:919,0,6409:54760643	16	0	5	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,33:187:99:0|1:54760643_A_G:922,0,6367:54760643	7	0	14	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,33:180:99:0|1:54760643_A_G:943,0,6073:54760643	7	0	14	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,33:167:99:0|1:54760643_A_G:982,0,5507:54760643	7	0	14	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,33:157:99:0|1:54760643_A_G:1012,0,5087:54760643	7	0	14	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	59730.09	38	chr19	54767353	.	A	C,*	59730.09	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=-1.860e+00;DP=4843;ExcessHet=0.1361;FS=0.529;InbreedingCoeff=0.2741;MLEAC=13,2;MLEAF=0.310,0.048;MQ=58.91;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.166;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,237,0:238:99:.:.:6820,681,0,7385,751,9053	10	4	5	0
chr19	54775321	54775321	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A527G:p.K176R	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	.	.	1.000	N	-0.105	N	1.98	T	-1.002	T	0.021	T	0.246	-0.452	1.906	-0.528	0.045	0.507	3.540	0.018	.	.	0.0285543	.	.	.	.	.	.	.	.	0.0054941	143	26028	rs551912555	8.066e-07	3.135e-06	0	1.627e-06	1.358e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.358e-05	0	9.404e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.991	0.02359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.69	0.19933	N	0.037	0.01135	-1.0019	0.29372	T	0.021	0.09101	T	9	0.004271269	0.00086	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.019697881130799132	0.01922	0.286032070692	0.31010	0.328735619783	0.14742	T	0.004251	0.03660	T	-0.268425	0.11932	T	-0.62335	0.10925	T	0.097581160795981	0.12089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.;.	.;.	0.196263	0.05818	2.258	0.65962790167702579	0.07922	0.00008	0.00134	N	AEFBI	0.015820	0.00321	N	-1.50332710389849	0.01828	0.08013823	-1.56523357978012	0.01873	0.08537886	1.69642889776649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.528	0.11310	0.180000	0.16672	.	.	-1.221000	0.01338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2906:0.0:0.7094:0.0	3.540	0.07364	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	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:122,0,93:215:99:0|1:54775321_A_G:3538,3844,8953,0,5123,4843:54775321	14	0	1	0
chr19	54775321	54775321	A	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:122,0,93:215:99:0|1:54775321_A_G:3538,3844,8953,0,5123,4843:54775321	14	0	1	0
chr19	54775322	54775322	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G528C:p.K176N	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.375	B	0.035	B	.	.	1.000	N	1.405	L	1.96	T	-1.032	T	0.034	T	0.215	0.284	5.538	-0.175	0.019	-1.768	4.925	0.019	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0038804	101	26028	rs142432377	2.414e-06	7.05e-06	0	4.87e-06	4.068e-05	6.4e-07	1.8e-07	1.08e-05	5e-06	0	0	0	0	0	0	0	0	4.068e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.226	0.26467	T	0.375	0.34209	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.52	0.16187	N	0.087	0.12484	-1.0322	0.19745	T	0.034	0.14509	T	9	0.004861355	0.00104	T	.	.	.	0.019	0.03383	0.372	0.38340	0.227934060464	0.22382	0.025502537409497105	0.02501	0.404161105383	0.41326	0.335895627737	0.15823	T	0.004204	0.03611	T	-0.284357	0.10210	T	-0.646235	0.09220	T	0.0611866430199818	0.07353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.42052	B	.;.	.;.	-0.534999	0.01758	0.133	0.94203204982077993	0.24439	0.00039	0.00329	N	AEFBI	0.018778	0.00597	N	-1.06418851789445	0.07312	0.3392801	-1.222503267997	0.05550	0.2647508	1.6514964015941E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.175	0.12662	-4.523000	0.00254	.	.	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.4054:0.0	4.925	0.13239	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	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:121,0,92:213:99:0|1:54775321_A_G:3499,3819,8890,0,5081,4804:54775321	14	0	1	0
chr19	54775322	54775322	G	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:121,0,92:213:99:0|1:54775321_A_G:3499,3819,8890,0,5081,4804:54775321	14	0	1	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V	.	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.009	B	0.168	N	1.000	N	0.08	N	2.74	T	-1.017	T	0.015	T	0.072	-2.393	0.003	-0.275	-0.112	-0.220	3.173	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;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	12807.67	37	chr19	54805068	.	A	G	12807.67	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.640e+00;DP=4275;ExcessHet=11.8493;FS=4.752;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.368;MQ=58.95;MQRankSum=-1.149e+01;QD=3.70;ReadPosRankSum=0.620;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:198,26:224:81:.:.:81,0,5651	6	0	13	2
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F	.	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.198	B	0.327	B	.	.	1.000	N	2.125	M	5.76	T	-0.946	T	0.005	T	0.221	0.808	8.245	-0.172	-0.120	0.024	3.728	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	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9084.15	108	chr19	54805957	.	A	T	9084.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.15;DP=4262;ExcessHet=11.8493;FS=0.848;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.77;MQRankSum=-1.667e+01;QD=2.69;ReadPosRankSum=1.69;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,31:251:99:0|1:54805940_TCTC_T:639,0,9144:54805940	8	0	13	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G	.	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.006	B	.	.	1.000	N	0.675	N	5.81	T	-0.937	T	0.002	T	0.192	0.190	5.025	-1.55	-0.654	-0.494	4.324	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	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9747.15	108	chr19	54805960	.	A	G	9747.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.407;DP=4341;ExcessHet=11.8493;FS=1.800;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.74;MQRankSum=-1.688e+01;QD=2.82;ReadPosRankSum=1.56;SOR=0.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,31:257:99:0|1:54805940_TCTC_T:621,0,9396:54805940	8	0	13	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S	.	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.001	B	0.001	N	1.000	N	-2.79	N	2.73	T	-0.875	T	0.006	T	0.022	-2.303	0.004	-0.047	-0.086	0.239	3.134	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	.;.;.;.;.;.	.	.	.	.	.	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	0.3095	15353.15	108	chr19	54805974	.	A	T	15353.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.50;DP=4725;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.65;MQRankSum=-1.628e+01;QD=4.01;ReadPosRankSum=0.664;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,43:291:99:0|1:54805940_TCTC_T:1014,0,10214:54805940	8	0	13	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q	.	.	421	659	441	1	0	443	0.251562	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.02	B	0.001	B	0.465	N	1.000	N	-2.62	N	2.75	T	-0.952	T	0.004	T	0.043	-2.074	0.006	-1.94	-0.822	-1.007	1.446	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	.	.	.	.	.	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	0.3095	19196.15	108	chr19	54805981	.	G	A	19196.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=2.63;DP=5055;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.67;MQRankSum=-1.608e+01;QD=4.63;ReadPosRankSum=-2.990e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,52:318:99:0|1:54805940_TCTC_T:1241,0,10660:54805940	8	0	13	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K	.	.	416	603	500	3	0	506	0.295561	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.077	B	0.073	B	0.219	U	1.000	N	2.025	M	2.69	T	-1.014	T	0.041	T	0.15	-0.307	2.540	-2.07	-1.920	-1.601	4.213	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25116.68	292	chr19	54806034	.	C	A	25116.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.535e+00;DP=7277;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.67;MQRankSum=-1.709e+01;QD=5.20;ReadPosRankSum=1.71;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,73:402:99:0|1:54806034_C_A:2045,0,13536:54806034	8	0	12	1
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R	.	.	417	602	500	3	0	506	0.295906	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.02	B	0.219	N	1.000	N	-0.195	N	2.67	T	-0.982	T	0.015	T	0.086	-2.553	0.003	-1.76	-1.632	0.104	6.415	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25188.68	292	chr19	54806035	.	A	G	25188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.795e+00;DP=7269;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.69;MQRankSum=-1.721e+01;QD=5.19;ReadPosRankSum=1.92;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:331,73:404:99:0|1:54806034_C_A:2039,0,13620:54806034	8	0	12	1
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M	.	.	413	617	488	4	0	496	0.286705	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.06	B	0.022	N	1.000	N	-0.28	N	2.71	T	-0.951	T	0.016	T	0.09	-4.753	0.001	-2.09	-4.463	-0.751	4.6	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	22542.15	292	chr19	54806051	.	C	G	22542.15	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.004e+00;DP=7737;ExcessHet=9.6308;FS=2.445;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.342;MQ=57.95;MQRankSum=-1.708e+01;QD=4.53;ReadPosRankSum=3.86;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,68:424:99:0|1:54806034_C_A:1784,0,14744:54806034	7	0	12	2
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	24607.11	292	chr19	54806072	.	GGA	G	24607.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.628;DP=7660;ExcessHet=11.8493;FS=3.525;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.97;MQRankSum=-1.728e+01;QD=4.45;ReadPosRankSum=2.39;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:365,66:431:99:0|1:54806034_C_A:1673,0,15128:54806034	8	0	13	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	28945.47	292	chr19	54806075	.	A	AGG	28945.47	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-5.960e-01;DP=7796;ExcessHet=14.4320;FS=3.507;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=57.86;MQRankSum=-1.730e+01;QD=4.78;ReadPosRankSum=2.42;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:362,66:428:99:0|1:54806034_C_A:1682,0,15002:54806034	6	0	14	1
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P	.	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.024	B	0.044	B	.	.	1.000	N	0.83	L	5.72	T	-0.892	T	0.002	T	0.193	-1.464	0.019	-1.46	-2.181	-4.220	0.244	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	29384.38	292	chr19	54806086	.	T	C	29384.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.199e+00;DP=7767;ExcessHet=17.4423;FS=4.575;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.83;MQRankSum=-1.735e+01;QD=4.51;ReadPosRankSum=0.065;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,65:413:99:0|1:54806034_C_A:1682,0,14417:54806034	6	0	15	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V	.	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	N	1.000	N	-1.53	N	2.72	T	-0.970	T	0.008	T	0.063	-3.538	0.001	-0.854	-3.514	-0.448	.	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	24913.38	292	chr19	54806109	.	A	G	24913.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.236e+00;DP=7520;ExcessHet=17.4423;FS=7.542;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=58.03;MQRankSum=-1.656e+01;QD=3.98;ReadPosRankSum=-3.141e+00;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,52:400:99:0|1:54806034_C_A:1136,0,14456:54806034	6	0	15	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D	.	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.012	B	0.024	B	0.006	U	1.000	N	0.765	N	2.53	T	-0.990	T	0.026	T	0.033	-0.167	3.186	-0.795	-0.445	-1.162	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	9512.01	292	chr19	54806112	.	A	G	9512.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.490e-01;DP=7263;ExcessHet=4.7172;FS=5.109;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.76;MQRankSum=-1.587e+01;QD=2.63;ReadPosRankSum=-2.764e+00;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:349,52:401:99:0|1:54806034_C_A:1133,0,14498:54806034	12	0	9	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S	.	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.003	B	0.046	U	1.000	N	0.13	N	7.15	T	-0.925	T	0.001	T	0.11	-1.679	0.012	-1.7	-1.068	-0.084	2.159	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	25713.48	41	chr19	54808838	.	C	T	25713.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=3.86;DP=5771;ExcessHet=14.4320;FS=0.714;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.82;MQRankSum=-1.875e+01;QD=4.71;ReadPosRankSum=0.460;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,57:363:99:0|1:54808838_C_T:1472,0,12616:54808838	7	0	14	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5	.	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28348.44	41	chr19	54808850	.	TGG	T	28348.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.40;DP=6077;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=4.95;ReadPosRankSum=0.095;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,62:397:99:0|1:54808838_C_T:1595,0,13851:54808838	7	0	14	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15	.	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28654.44	41	chr19	54808853	.	C	CAT	28654.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.62;DP=6070;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=5.01;ReadPosRankSum=-1.110e-01;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:333,62:395:99:0|1:54808838_C_T:1601,0,13767:54808838	7	0	14	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S	.	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.491	U	1.000	N	-1.24	N	7.38	T	-0.982	T	0.000	T	0.081	-2.864	0	-1.7	-0.659	-3.350	3.991	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	29056.48	41	chr19	54808875	.	T	C	29056.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.156;DP=6159;ExcessHet=14.4320;FS=1.502;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.16;MQRankSum=-1.759e+01;QD=5.05;ReadPosRankSum=-6.680e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:331,61:392:99:1568,0,8940	7	0	14	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:408,74,0:482:99:.:.:709,0,13849,1933,14071,16004	4	0	11	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F	.	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.957	D	0.987	U	1.000	N	1.885	L	5.76	T	-0.914	T	0.007	T	0.13	2.147	13.14	-0.254	-0.134	-1.675	3.712	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	20296.38	88	chr19	54855625	.	A	T	20296.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-8.030e-01;DP=5048;ExcessHet=17.4423;FS=6.158;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.76;MQRankSum=-1.439e+01;QD=4.26;ReadPosRankSum=0.340;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,29:304:99:0|1:54855608_TCTC_T:390,0,11460:54855608	6	0	15	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G	.	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.99	D	0.407	U	1.000	N	0.715	N	5.81	T	-0.864	T	0.005	T	0.109	0.702	7.744	0.993	0.705	-1.951	4.242	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	19524.38	88	chr19	54855628	.	A	G	19524.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.458e+00;DP=5081;ExcessHet=17.4423;FS=6.361;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.81;MQRankSum=-1.448e+01;QD=4.07;ReadPosRankSum=0.351;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,28:309:99:0|1:54855608_TCTC_T:330,0,11644:54855608	6	0	15	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R	.	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	-0.69	N	7.32	T	-0.976	T	0.001	T	0.094	-0.882	0.475	-0.763	-1.126	-1.523	.	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31702.71	90	chr19	54865810	.	T	C	31702.71	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.293e+00;DP=3755;ExcessHet=14.4320;FS=1.258;InbreedingCoeff=-0.5016;MLEAC=14;MLEAF=0.333;MQ=58.31;MQRankSum=-9.487e+00;QD=9.30;ReadPosRankSum=1.76;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,56:244:99:0|1:54865770_G_A:1786,0,7726:54865770	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,50:250:99:0|1:54865770_G_A:1497,0,8247:54865770	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,51:243:99:0|1:54865770_G_A:1564,0,7909:54865770	7	0	14	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I	.	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.521	N	1.000	N	-2.6	N	7.41	T	-0.951	T	0.000	T	0.186	-2.169	0.005	-0.556	-1.246	-2.075	1.833	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	28126.08	90	chr19	54865852	.	T	A	28126.08	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.146e+00;DP=3964;ExcessHet=11.8493;FS=0.602;InbreedingCoeff=-0.4757;MLEAC=13;MLEAF=0.325;MQ=58.29;MQRankSum=-1.050e+01;QD=8.38;ReadPosRankSum=0.494;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,50:241:99:0|1:54865770_G_A:1525,0,7870:54865770	7	0	13	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I	.	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.021	B	0.026	N	1.000	N	-0.145	N	7.01	T	-0.867	T	0.001	T	0.124	-3.306	0.001	-1.51	-3.388	-1.355	6.404	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26881.91	90	chr19	54865864	.	C	A	26881.91	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.450e-01;DP=3884;ExcessHet=11.8493;FS=0.608;InbreedingCoeff=-0.4745;MLEAC=13;MLEAF=0.325;MQ=58.33;MQRankSum=-9.748e+00;QD=8.20;ReadPosRankSum=-7.570e-01;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,50:240:99:0|1:54865770_G_A:1528,0,7828:54865770	7	0	13	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F	.	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.959	U	1.000	N	1.445	L	6.74	T	-0.940	T	0.004	T	0.25	0.087	4.467	-1.58	-0.826	-0.444	2.405	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26642.8	90	chr19	54865870	.	C	T	26642.8	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.75;DP=3832;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=58.31;MQRankSum=-9.500e+00;QD=8.27;ReadPosRankSum=-1.440e+00;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,50:238:99:0|1:54865770_G_A:1534,0,7744:54865770	7	0	13	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H	.	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.001	N	1.000	N	-2.525	N	7.27	T	-0.904	T	0.000	T	0.061	-2.893	0.001	-0.356	-0.649	-0.514	4.953	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	23642.28	90	chr19	54865885	.	T	C	23642.28	.	AC=13;AF=0.325;AN=40;BaseQRankSum=3.17;DP=3617;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4940;MLEAC=14;MLEAF=0.350;MQ=58.28;MQRankSum=-9.078e+00;QD=7.87;ReadPosRankSum=-1.919e+00;SOR=0.730	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,41:212:99:0|1:54865770_G_A:1207,0,7057:54865770	7	0	13	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C	.	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.997	D	0.003	U	1.000	N	1.9	L	7.01	T	-0.926	T	0.005	T	0.315	0.191	5.027	0.792	0.706	-0.531	4.875	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	22402.2	90	chr19	54865888	.	C	T	22402.2	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.84;DP=3561;ExcessHet=11.8493;FS=0.626;InbreedingCoeff=-0.4886;MLEAC=14;MLEAF=0.350;MQ=58.25;MQRankSum=-9.209e+00;QD=7.57;ReadPosRankSum=-1.902e+00;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,41:209:99:0|1:54865770_G_A:1216,0,6903:54865770	7	0	13	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C	.	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.005	U	1.000	N	2.56	M	7.16	T	-0.938	T	0.005	T	0.423	0.755	7.999	0.792	0.706	0.774	4.875	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	21734.24	90	chr19	54865893	.	G	C	21734.24	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.60;DP=3482;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4768;MLEAC=13;MLEAF=0.325;MQ=58.20;MQRankSum=-8.978e+00;QD=7.60;ReadPosRankSum=-2.084e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,39:198:99:0|1:54865770_G_A:1159,0,6511:54865770	7	0	13	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,34:256:99:0|1:54866416_T_C:759,0,9204:54866416	7	0	14	0
chr19	54885268	54885268	C	A	exonic	FCAR	.	stopgain	FCAR:NM_133272:exon2:c.C68A:p.S23X	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	.	.	.	.	0.685	N	1.000	A	.	.	.	.	.	.	.	.	.	2.055	12.83	2.1	0.852	1.083	7.398	.	.	.	.	8.249e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs773603335	6.842e-06	6.84e-06	5.446e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0.0002	5.397e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684825	0.10226	N	0.788741	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.688	0.81559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210558	0.74883	D	0.0801617	0.75588	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;.;.;.;.;.	.;.;High;.;.;.;.;.	7.182471	0.96239	35	0.98410676724863377	0.41169	0.02684	0.07317	N	AEFDBI	0.025566	0.01771	N	0.143827391951706	0.48520	3.063265	-0.24504354254119	0.29943	1.681704	2.4030892897795E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.19	2.1	0.26226	0.639000	0.24378	.	.	0.530000	0.24713	0.000000	0.06391	0.002000	0.18203	0.001000	0.02609	0.2597:0.7403:0.0:0.0	7.398	0.26119	976	0.04745	.;Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1520.98	58	chr19	54885268	.	C	A	1520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=1134;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-6.050e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1535,0,1596	20	0	1	0
chr19	55056680	55056680	G	A	exonic	RDH13	.	stopgain	RDH13:NM_001145971:exon3:c.C313T:p.R105X	.	.	429	1085	3	0	5	8	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.003	N	1.000	A	.	.	.	.	.	.	.	.	.	7.135	38	3.37	0.998	3.121	10.085	.	.	.	.	0.0001	0	0	0.0010	0.0002	6.001e-05	0	0.0002	0.0001229	19	154602	rs200525958	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0007	0	6.708e-05	0	0.0010	3.744e-05	0.0016	9.263e-05	8.279e-05	0.0003	0.0001	0.0001	8.999e-05	0.0001	0.0010	7.101e-05	5.755e-05	0.0004	0.0002	4.834e-05	0	0	0	0.0010	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.003361	0.35069	N	0.203527	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.274	0.32370	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201438	0.74027	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.	.;High;.;.	10.542524	0.99782	48	0.99757598717960083	0.84772	0.83182	0.42321	D	AEFDBCI	0.077076	0.15521	N	0.335732055158041	0.57991	3.968929	0.131906277409427	0.46188	2.869076	0.598290683848579	0.21704	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.42	3.37	0.37692	3.546000	0.53409	.	.	-0.138000	0.12486	1.000000	0.71638	1.000000	0.68203	0.235000	0.22869	0.0:0.0:0.6362:0.3638	10.085	0.41583	982	0.03397	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1589.98	33	chr19	55056680	.	G	A	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.887;DP=1039;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-1.204e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:67,67:134:99:1604,0,1499	20	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,59,0:59:99:.:.:2646,183,0,2646,183,2646	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,59,0:59:99:.:.:2646,183,0,2646,183,2646	0	18	2	0
chr19	55442638	55442638	G	A	exonic	SHISA7	.	nonsynonymous SNV	SHISA7:NM_001145176:exon1:c.C226T:p.P76S,	.	.	411	1103	8	0	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	B	0.245	B	.	.	0.527	D	0	N	.	.	-0.955	T	0.076	T	0.215	3.328	17.20	3.3	1.593	3.175	10.544	0.058	.	.	0.00199681	0.0046	0	0	0.0036	0	0.0002	0.0071	0.0084	0.000511	79	154602	rs562026468	0.0008	0.0008	0.0006	0.0011	0.0110	0.0008	0.0008	0.0104	0.0101	0	0.0001	0	0.0071	0.0009	0.0005	5.755e-05	0.0016	0.0110	0.0005	0.0005	0.0004	0.0006	0.0091	0.0004	0.0004	0.0070	0.0062	2.439e-05	0	0	0	0.0044	0	0	0.0001	0	0.0091	0.147	0.24955	T	0.061	0.45530	T	0.191	0.29411	B	0.245	0.38823	B	.	.	.	.	0.527486	0.31948	D	0.695	0.17993	N	.	.	.	-2.46	0.53736	N	0.279	0.31590	-0.9548	0.40131	T	0.076	0.30429	T	7	0.005387306	0.00118	T	.	.	.	0.058	0.16647	0.343	0.33626	0.132336055621	0.12781	0.31836276832275384	0.31749	.	.	0.867279529572	0.92177	D	0.030269	0.21497	T	-0.465757	0.00904	T	-0.433842	0.29499	T	0.0671139891509457	0.08240	T	0.518948	0.16858	T	0.12601453	0.29527	0.223598	0.47244	0.12601453	0.29527	0.223598	0.47243	-4.768	0.34216	T	.	.	0.148	0.32685	B	.	.	4.992041	0.82765	27.9	0.99803115742848358	0.88728	0.67425	0.33428	D	AEFDBHCI	0.128828	0.24675	N	-0.299429354536607	0.29171	1.615297	-0.173224278958124	0.32526	1.851315	0.999928305866092	0.46280	0.59774	0.34471	0	0.578056	0.33634	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.3	3.3	0.36912	4.290000	0.58812	7.305000	0.58104	0.481000	0.22134	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	10.544	0.44236	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	901.98	38	chr19	55442638	.	G	A	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.890e+00;DP=826;ExcessHet=0.0000;FS=0.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=2.00;SOR=0.534	GT:AD:DP:GQ:PL	0/1:42,40:82:99:916,0,1073	20	0	1	0
chr19	56816629	56816629	C	T	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001369735:exon8:c.G1348A:p.G450R	.	.	432	1087	2	1	0	4	0.00183655	.	.	2840312	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.417	B	0.048	B	0.444	N	.	.	0.895	L	3.52	T	-1.004	T	0.011	T	0.211	0.823	8.315	-0.584	0.014	0.252	5.934	0.033	0.00434452834836	0.0011	0.000399361	0.0013	0.0003	0.0007	0	0	0.0021	0.0011	0.0006	0.0011966	185	154602	rs55885735	0.0008	0.0008	0.0008	0.0009	0.0014	0.0008	0.0008	0.0007	0.0005	2.988e-05	0.0007	0.0217	2.519e-05	0	0.0014	0.0004	0.0020	0.0006	0.0011	0.0011	0.0011	0.0010	0.0010	0.0009	0.0009	0.0006	0.0005	7.223e-05	0	0.0010	0.0256	0	0	0.0034	0.0007	0.0024	0.0002	0.079	0.33753	T	0.102	0.38450	T	0.123	0.26785	B	0.008	0.13708	B	0.444264	0.12588	N	0.694155	.	.	.	0.205	0.09354	N	3.52	0.05710	T	-3.0	0.62343	D	0.126	0.12055	-1.0041	0.28725	T	0.011	0.04181	T	9	0.0053491294	0.00117	T	0.004345	0.10561	T	0.033	0.08068	.	.	0.370789594751	0.36692	.	.	0.0537603850345	0.05938	0.237546890974	0.02573	T	0.569133	0.85704	D	-0.560177	0.00253	T	-0.650237	0.08937	T	0.00877541672367101	0.00108	T	0.451655	0.12799	T	0.1298894	0.30324	0.18060389	0.40871	0.1298894	0.30324	0.18060389	0.40870	-4.667	0.34731	T	.	.	0.129	0.29004	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.784906	0.11551	8.146	0.93944221121227578	0.24001	0.28288	0.23513	N	AEFBCI	0.161537	0.28761	N	-0.900877733817179	0.10822	0.5190613	-0.985064841546338	0.10120	0.5077085	0.0104681830865035	0.12029	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.14	-0.584	0.11115	0.122000	0.15515	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:0.5327:0.288:0.1793	5.934	0.18394	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1924.98	38	chr19	56816629	.	C	T	1924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.40;DP=1026;ExcessHet=0.0000;FS=2.060;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.541;SOR=0.921	GT:AD:DP:GQ:PL	0/1:84,68:152:99:1939,0,2166	20	0	1	0
chr19	57493645	57493645	G	A	exonic	ZNF419	.	nonsynonymous SNV	ZNF419:NM_001098495:exon3:c.G953A:p.R318H	.	.	424	1089	7	2	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.992	D	.	.	1.000	N	2.47	M	1.78	T	-1.025	T	0.096	T	0.262	2.448	14.15	-0.582	-0.073	0.874	2.945	0.026	.	0.007	0.00179712	0.0069	0.0018	0.0010	0.0001	0.0157	0.0103	0.0033	0.0010	0.0067011	1036	154602	rs190991901	0.0081	0.0081	0.0084	0.0079	0.0095	0.0080	0.0080	0.0093	0.0092	0.0015	0.0013	0.0005	7.557e-05	0.0137	0.0010	0.0095	0.0066	0.0012	0.0057	0.0057	0.0058	0.0056	0.0091	0.0054	0.0053	0.0085	0.0082	0.0013	0	0.0028	0.0009	0.0004	0.0134	0	0.0091	0.0028	0.0006	0.002	0.78490	D	0.024	0.79402	D	1.0	0.90584	D	0.946	0.70672	D	.	.	.	.	1	0.08975	N	1.905	0.50856	L	1.78	0.25678	T	-3.87	0.75139	D	0.309	0.42050	-1.0253	0.21985	T	0.096	0.36029	T	9	0.005657226	0.00126	T	.	.	.	0.026	0.05648	.	.	0.215109475489	0.21095	0.02654891569215712	0.02604	0.177019155059	0.19917	0.498757123947	0.38654	T	0.072844	0.34553	T	-0.517906	0.00452	T	-0.508893	0.21430	T	0.0443826195562264	0.04490	T	0.539146	0.22875	T	0.23445682	0.46267	0.27970666	0.53941	0.23445682	0.46267	0.27970666	0.53940	-10.514	0.76927	D	.	.	0.658	0.71961	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.857490	0.37744	20.6	0.99745433717500886	0.83852	0.06457	0.12464	N	AEFGBI	0.046647	0.07769	N	-0.31816867139106	0.28459	1.569819	-0.645093629492661	0.18340	0.9793189	0.0278239713266579	0.13796	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.8	-0.582	0.11122	-0.058000	0.11707	.	.	0.467000	0.21759	0.000000	0.06391	0.000000	0.08366	0.228000	0.22680	0.2787:0.0:0.5051:0.2162	2.945	0.05487	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;.;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	ZNF544	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1981.98	42	chr19	57493645	.	G	A	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=1082;ExcessHet=0.0000;FS=1.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.57;MQRankSum=-2.514e+00;QD=12.23;ReadPosRankSum=-1.020e+00;SOR=0.797	GT:AD:DP:GQ:PL	0/1:82,80:162:99:1996,0,1907	20	0	1	0
chr20	3166252	3166252	G	A	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon4:c.C568T:p.R190W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.981	D	0.004	N	1.000	D	1.24	L	1.42	T	-0.890	T	0.157	T	0.848	3.987	20.4	5.26	2.450	4.592	13.008	0.162	0.0160562482763	.	.	8.513e-06	0	0	0	0	1.545e-05	0	0	6.5e-06	1	154602	rs777367896	1.779e-05	1.779e-05	2.179e-05	1.376e-05	0.0002	1.238e-05	1.052e-05	1.295e-05	1.106e-05	0	0	0	2.52e-05	0	0.0002	1.979e-05	0	2.32e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.008	0.68238	D	0.01	0.65728	D	1.0	0.90584	D	0.958	0.75168	D	0.004053	0.34172	N	0.306548	0.999633	0.47961	D	1.65	0.42232	L	1.42	0.33630	T	-3.38	0.68999	D	0.572	0.62950	-0.8897	0.48960	T	0.157	0.49010	T	10	0.5599779	0.64733	D	0.016056	0.37127	T	0.162	0.41843	0.218	0.13932	0.452650218784	0.44890	0.34660704983872326	0.34574	0.724124553774	0.62372	0.704626381397	0.67813	T	0.070574	0.33993	T	0.0407585	0.57146	T	-0.0101015	0.69678	D	0.860206723213196	0.51070	D	0.906009	0.67324	D	0.20906793	0.43162	0.17767194	0.40384	0.20906793	0.43162	0.17767194	0.40384	-5.019	0.37045	T	.	.	0.146	0.52442	B	.;.;.;.	.;.;.;.	5.228593	0.87761	29.4	0.99914352699946518	0.98309	0.96739	0.70680	D	AEFDBI	0.825918	0.74551	D	0.611597661045481	0.73906	6.043396	0.61956065455439	0.76361	6.476935	0.998623603740125	0.37330	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.26	5.26	0.73479	3.833000	0.55492	9.770000	0.81549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7286:0.2714	13.008	0.58120	669	0.61081	.;.;.;.	.	.	.	.	.	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	0.02381	1967.98	36	chr20	3166252	.	G	A	1967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=904;ExcessHet=0.0000;FS=0.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=3.16;SOR=0.720	GT:AD:DP:GQ:PL	0/1:79,80:159:99:1982,0,1834	20	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:68,40:118:99:188,0,1124	5	0	16	0
chr20	5952484	5952484	A	G	exonic	MCM8	.	nonsynonymous SNV	MCM8:NM_001281520:exon3:c.A209G:p.D70G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.035	B	0.048	B	0.000	D	1.000	D	1.735	L	1.48	T	-1.090	T	0.089	T	0.705	2.543	14.46	6.07	2.326	7.190	16.641	0.139	.	7.7e-05	0.00439297	0.0016	0	0	0	0	0	0.0011	0.0115	0.0013777	213	154602	rs145498575	0.0006	0.0006	0.0004	0.0009	0.0097	0.0006	0.0006	0.0092	0.0090	5.974e-05	0	0	2.521e-05	0	0.0002	1.799e-06	0.0009	0.0097	0.0003	0.0003	0.0002	0.0005	0.0108	0.0003	0.0002	0.0084	0.0076	2.406e-05	0	0	0	0	0	0	0	0	0.0108	0.118	0.29288	T	0.258	0.25670	T	0.012	0.20614	B	0.013	0.24975	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	1.48	0.31731	T	-2.13	0.48354	N	0.679	0.68863	-1.0901	0.05515	T	0.089	0.34298	T	10	0.0064270496	0.00146	T	.	.	.	0.139	0.37390	.	.	0.456830177556	0.45309	0.6377711437502377	0.63711	0.380991170605	0.39459	0.50742995739	0.39863	T	0.040747	0.25628	T	-0.278036	0.10877	T	-0.161768	0.58192	T	0.131447303121071	0.15516	T	0.918808	0.70803	D	0.15492493	0.35041	0.2144587	0.45997	0.17400499	0.38180	0.123851694	0.29858	-2.132	0.06672	T	.	.	0.238	0.50194	B	.;.;.;.;.	.;.;.;.;.	2.952193	0.39288	20.9	0.99193103868106136	0.55053	0.98918	0.88611	D	AEFBI	0.786901	0.71684	D	0.0950207580601129	0.46230	2.86663	0.256093240403545	0.52996	3.470944	0.999999999993006	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.07	6.07	0.98675	7.244000	0.77673	11.140000	0.87044	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.664000	0.33081	1.0:0.0:0.0:0.0	16.641	0.84955	622	0.65860	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1374.98	46	chr20	5952484	.	A	G	1374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.572e+00;DP=848;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-9.190e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1389,0,1532	20	0	1	0
chr20	21396175	21396175	-	GGC	exonic	NKX2-4	.	nonframeshift insertion	NKX2-4:NM_033176:exon2:c.800_801insGCC:p.P270_S271insP,	.	.	5	1514	2	0	1	3	0.000660066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0	0	0	0.0009	0.0075	0.0014	0.0002305	6	26028	rs758509573	0.0001	0.0001	0.0001	0.0002	0.0025	0.0001	0.0001	0.0014	0.0010	3.69e-05	7.714e-05	0.0009	0	0	0.0025	3.77e-05	0.0004	0.0013	9.224e-05	9.194e-05	6.445e-05	0.0001	0.0004	5.542e-05	4.376e-05	7.307e-05	3.346e-05	0	0	0.0001	0.0009	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1784.94	35	chr20	21396175	.	A	AGGC	1784.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.054;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=28.33;ReadPosRankSum=-5.500e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/1:17,46:63:99:1799,0,572	20	0	1	0
chr20	32052437	32052437	T	C	exonic	HCK	.	nonsynonymous SNV	HCK:NM_001172130:exon1:c.T13C:p.S5P	.	.	414	1107	1	0	0	1	0.000451467	.	.	2428212	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	0.169	N	1.000	D	0.805	L	-0.84	T	-0.914	T	0.196	T	0.156	2.822	15.40	0.687	0.112	0.527	4.455	0.187	0.10967920031	.	.	.	.	.	.	.	.	.	.	.	.	.	rs957448914	1.329e-05	2.599e-05	1.185e-05	1.485e-05	0.0007	7.98e-06	6.32e-06	0.0002	0.0001	0	0	0	0	2.636e-05	0.0007	9.606e-06	4.435e-05	0	7.901e-05	7.886e-05	6.434e-05	9.44e-05	0.0006	4.505e-05	3.519e-05	0.0003	0.0002	2.419e-05	0	0.0006	0	0	0	0	1.472e-05	0.0005	0	0.0	0.91255	D	0.104	0.41074	T	0.0	0.02946	B	0.0	0.01387	B	0.169136	0.17427	N	0.319446	0.999996	0.58761	D	1.95	0.52479	M	-0.84	0.74265	T	-0.22	0.10480	N	0.252	0.28498	-0.9139	0.46364	T	0.196	0.54970	T	10	0.065944284	0.08972	T	0.109679	0.78674	D	0.187	0.46274	0.106	0.01810	0.783308726947	0.78130	0.10110937250270897	0.10041	.	.	0.75763887167	0.75578	T	0.009556	0.31948	T	-0.0870355	0.38565	T	-0.362797	0.37728	T	0.506542921066284	0.32869	D	0.449255	0.12651	T	0.22419545	0.45056	0.19252543	0.42772	0.22419545	0.45056	0.19252543	0.42771	-5.221	0.39155	T	.	.	0.064	0.03197	B	.;.;.;.	.;.;.;.	3.090811	0.41615	21.4	0.99484598679944303	0.67069	0.14461	0.18415	N	AEFDBCI	0.120338	0.23446	N	-0.617436490712869	0.18420	0.9561971	-0.566408689253108	0.20372	1.09725	0.999998832462309	0.74766	0.59774	0.34471	0	0.52208	0.09955	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.04	0.687	0.17184	0.148000	0.16042	0.109000	0.14755	0.580000	0.29708	0.257000	0.24919	0.018000	0.20648	0.965000	0.52897	0.0:0.383:0.0:0.617	4.455	0.11062	502	0.75873	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	279.98	35	chr20	32052437	.	T	C	279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.760e+00;DP=707;ExcessHet=0.0000;FS=1.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.782;SOR=0.307	GT:AD:DP:GQ:PL	0/1:14,14:28:99:294,0,362	20	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:82,58:140:99:347,0,1291	2	0	19	0
chr20	35652830	35652830	-	GGGCCG	exonic	RBM12	.	nonframeshift insertion	RBM12:NM_001198840:exon2:c.2492_2493insCGGCCC:p.P837_I838insGP	.	.	317	1072	122	8	3	141	0.0604733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4619.11	33	chr20	35652818	.	AGGGCCGGGGCCG	AGGGCCGGGGCCGGGGCCG,A	4619.11	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=1.02;DP=856;ExcessHet=0.0082;FS=5.219;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.83;ReadPosRankSum=2.37;SOR=0.690	GT:AD:DP:GQ:PL	0/1:18,19,0:37:99:639,0,673,695,730,1425	18	0	2	0
chr20	35652819	35652830	GGGCCGGGGCCG	-	exonic	RBM12	.	nonframeshift deletion	RBM12:NM_001198840:exon2:c.2493_2504del:p.G834_P837del	.	.	317	1072	122	8	3	141	0.0604733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	.	0.0003	0	0	0.0001	0	0.0002	0.0012	0.0009	0.0002005	31	154602	rs746941434	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	0.0003	0.0005	7.991e-05	0.0002	0	0.0014	0.0003	0.0003	0.0007	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	0.0001	0	0.0009	0	0.0004	0	0	0.0003	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4619.11	33	chr20	35652818	.	AGGGCCGGGGCCG	AGGGCCGGGGCCGGGGCCG,A	4619.11	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=1.02;DP=856;ExcessHet=0.0082;FS=5.219;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.83;ReadPosRankSum=2.37;SOR=0.690	GT:AD:DP:GQ:PL	0/1:18,19,0:37:99:639,0,673,695,730,1425	18	0	2	0
chr20	38771634	38771634	A	G	exonic	ACTR5	.	nonsynonymous SNV	ACTR5:NM_024855:exon9:c.A1642G:p.N548D,	.	.	429	1087	6	0	0	6	0.00275229	.	.	2306146	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.204	N	1.000	N	-0.06	N	-3.39	D	-0.589	T	0.466	T	0.021	-0.215	2.960	-0.377	-0.197	0.689	6.285	0.212	0.0399369646239	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs376195704	9.371e-05	9.371e-05	9.937e-05	8.8e-05	0.0023	8.092e-05	7.584e-05	0.0013	0.0011	2.987e-05	0.0002	0.0012	0	0	0.0023	4.676e-05	0.0001	0.0002	0.0001	0.0001	6.428e-05	0.0002	0.0003	7.091e-05	5.747e-05	0.0001	8.283e-05	0	0	0.0003	0.0020	0	0	0	4.411e-05	0.0005	0.0002	0.578	0.06030	T	0.595	0.08079	T	0.0	0.02946	B	0.0	0.01387	B	0.203621	0.16538	N	0.652566	1	0.08975	N	-0.61	0.02200	N	-3.39	0.94210	D	-0.61	0.18042	N	0.046	0.01825	-0.5886	0.65276	T	0.466	0.79361	T	10	0.010678619	0.00237	T	0.039937	0.59093	D	0.212	0.50341	.	.	0.506673610527	0.50307	0.12701628256818664	0.12627	0.0978838310417	0.11035	0.238634496927	0.02669	T	0.215823	0.57782	T	-0.347507	0.04886	T	-0.439387	0.28876	T	0.00440419145084432	0.00047	T	0.309069	0.05976	T	0.044496242	0.07123	0.0427612	0.05165	0.044496242	0.07122	0.0427612	0.05165	-4.005	0.23878	T	.	.	0.052	0.00216	B	.	.	0.016651	0.04400	1.142	0.61763001896971836	0.06791	0.00589	0.02644	N	AEFGBI	0.018718	0.00590	N	-1.27850945377716	0.03935	0.1767066	-1.23603658478628	0.05341	0.2542429	0.373090066784497	0.19889	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	-0.377	0.11879	0.720000	0.25566	0.414000	0.18144	-0.137000	0.12594	0.001000	0.13787	0.000000	0.08366	0.744000	0.35576	0.3201:0.1185:0.5614:0.0	6.285	0.20239	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1386.98	34	chr20	38771634	.	A	G	1386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=817;ExcessHet=0.0000;FS=1.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=0.627;SOR=0.877	GT:AD:DP:GQ:PL	0/1:66,57:123:99:1401,0,1552	20	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T,	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.82	M	0.56	T	-0.099	T	0.396	T	0.851	4.753	26.6	5.27	2.134	8.040	15.488	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	69.59	45	chr20	41100210	.	T	C	69.59	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.482e+00;DP=972;ExcessHet=1.7912;FS=83.153;InbreedingCoeff=-0.1659;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.377;SOR=8.550	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,7:35:25:0|1:41100207_G_A:25,0,456:41100207	15	0	6	0
chr20	41137682	41137682	C	T	exonic	PLCG1	.	nonsynonymous SNV	PLCG1:NM_002660:exon1:c.C41T:p.P14L	.	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.017	B	0.022	B	0.002	N	1.000	D	1.59	L	-0.18	T	-0.890	T	0.179	T	0.394	4.108	21.2	4.22	2.041	2.782	11.298	0.120	0.920737595684	.	.	0	0	0	0	0	0	0	0	0.0001537	4	26028	rs767209449	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0015	0.0012	0.0001	0.0003	0.0082	0	0	0.0027	8.168e-05	0.0008	0.0008	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	8.989e-05	0	0	0.0002	0.0090	0	0	0	8.842e-05	0.0010	0.0006	0.124	0.27426	T	0.634	0.07105	T	0.017	0.17573	B	0.022	0.19653	B	0.002172	0.37095	N	0.223501	1	0.81001	D	1.15	0.29295	L	-0.18	0.65747	T	-1.52	0.36980	N	0.118	0.11054	-0.8902	0.48916	T	0.179	0.52520	T	10	0.0062251687	0.00140	T	0.920738	0.99416	D	0.120	0.33359	.	.	0.596664231354	0.59345	0.30183769221919754	0.30096	.	.	0.880596995354	0.94040	D	0.428943	0.77791	T	-0.0335502	0.46899	T	-0.285969	0.46189	T	0.166146948709637	0.18314	T	0.836716	0.50835	T	0.108609505	0.25680	0.16106948	0.37485	0.108609505	0.25680	0.16106948	0.37484	-4.519	0.31136	T	.	.	0.090	0.12655	B	.;.	.;.	4.098685	0.61094	24.3	0.99717363190664421	0.81773	0.88364	0.48258	D	ALL	0.235582	0.35817	N	-0.16010616765004	0.34807	1.991224	-0.021859116129746	0.38730	2.286004	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.22	4.22	0.49153	1.261000	0.32582	7.364000	0.58360	0.555000	0.28237	0.523000	0.27135	1.000000	0.68203	0.997000	0.79791	0.0:0.9073:0.0:0.0927	11.298	0.48526	933	0.16026	.;.	.	.	.	.	.	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	0.02381	539.98	34	chr20	41137682	.	C	T	539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=742;ExcessHet=0.0000;FS=1.146;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.689;SOR=0.889	GT:AD:DP:GQ:PL	0/1:30,21:51:99:554,0,797	20	0	1	0
chr20	41347644	41347644	T	A	exonic	LPIN3	.	nonsynonymous SNV	LPIN3:NM_001301860:exon3:c.T285A:p.D95E	.	.	408	1089	25	0	0	25	0.0113482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	B	0.012	B	0.824	N	1.000	N	0.07	N	-0.98	T	-1.006	T	0.154	T	0.103	0.838	8.384	0.458	0.073	-0.214	1.266	0.083	.	0.0013	0.00119808	0.0024	0.0013	0.0004	0	0	0.0015	0.0024	0.0111	0.0020698	320	154602	rs141757517	0.0012	0.0013	0.0010	0.0015	0.0091	0.0012	0.0012	0.0083	0.0081	0.0019	0.0006	0.0076	0	0	0.0091	0.0005	0.0019	0.0088	0.0012	0.0012	0.0011	0.0014	0.0075	0.0011	0.0010	0.0055	0.0049	0.0012	0	0.0006	0.0089	0	0	0	0.0008	0.0033	0.0075	0.44	0.09264	T	0.791	0.04274	T	0.028	0.19712	B	0.012	0.16012	B	0.823554	0.06898	N	1.071380	0.999996	0.08975	N	0.175	0.09039	N	-0.98	0.75789	T	-0.57	0.17210	N	0.092	0.07125	-1.0061	0.28126	T	0.154	0.48412	T	9	0.004119873	0.00081	T	.	.	.	0.083	0.24192	0.448	0.50793	0.367612772649	0.36367	0.0823226243251057	0.08167	0.144117593316	0.16271	0.3481528759	0.17650	T	0.004792	0.04206	T	-0.519451	0.00443	T	-0.512535	0.21054	T	0.00127356250301974	0.00013	T	0.681532	0.29705	T	0.03167756	0.03051	0.03288729	0.02094	0.03167756	0.03051	0.03288729	0.02094	-2.728	0.07567	T	.	.	0.091	0.17103	B	.;.	.;.	0.674402	0.10428	7.150	0.57772500901972024	0.05843	0.13557	0.17923	N	AEFDGBHI	0.109753	0.21789	N	-1.11831149760462	0.06317	0.2904757	-1.06424798322431	0.08413	0.4135292	0.814905485133851	0.24421	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.56	0.458	0.15882	-0.180000	0.09747	-0.617000	0.08192	-0.137000	0.12594	0.006000	0.17386	0.058000	0.21979	0.258000	0.23468	0.2349:0.1378:0.1214:0.5059	1.266	0.01890	955	0.09969	Lipin, 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	0.02381	1130.98	37	chr20	41347644	.	T	A	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=772;ExcessHet=0.0000;FS=1.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-8.130e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1145,0,836	20	0	1	0
chr20	45841309	45841309	-	T	exonic	SNX21	.	stoploss	SNX21:NM_033421:exon4:c.1118_1119insT:p.*374delinsLTLA*,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.651e-05	0	0	0	0	4.784e-05	0.0013	0	6.5e-06	1	154602	rs746565501	4.289e-05	4.583e-05	2.682e-05	5.937e-05	0.0003	3.39e-05	3.051e-05	0.0002	0.0002	0	0	0	0	0	0	2.307e-05	0.0002	0.0003	3.939e-05	3.937e-05	2.569e-05	5.37e-05	0.0004	1.714e-05	1.129e-05	7.287e-05	3.028e-05	0	0	6.534e-05	0	0	0	0	4.41e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1118.94	39	chr20	45841309	.	A	AT	1118.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.63;ReadPosRankSum=0.033;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,29:57:99:0|1:45841309_A_AT:1133,0,1053:45841309	20	0	1	0
chr20	45841313	45841313	-	G	exonic	SNX21	.	nonframeshift insertion	SNX21:NM_033421:exon4:c.1122_1123insG:p.X374delinsX,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-05	0	0	0	0	4.796e-05	0.0013	0	6.5e-06	1	154602	rs770339693	4.323e-05	4.583e-05	2.698e-05	5.996e-05	0.0003	3.417e-05	3.074e-05	0.0002	0.0002	0	0	0	0	0	0	2.318e-05	0.0002	0.0003	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0004	1.714e-05	1.129e-05	7.29e-05	3.029e-05	0	0	6.536e-05	0	0	0	0	4.411e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1121.94	39	chr20	45841313	.	A	AG	1121.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.03;ReadPosRankSum=-4.020e-01;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,29:56:99:0|1:45841309_A_AT:1136,0,1046:45841309	20	0	1	0
chr20	46541431	46541431	G	T	exonic	OCSTAMP	.	nonsynonymous SNV	OCSTAMP:NM_080721:exon3:c.C1544A:p.P515Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.344	B	0.054	B	.	.	1.000	N	0	N	0.5	T	-1.049	T	0.063	T	0.212	0.749	7.972	-0.735	-0.152	-0.260	5.101	0.032	0.00978672009553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.0	0.92824	D	0.344	0.33532	B	0.054	0.25828	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.5	0.55608	T	-0.18	0.09796	N	0.176	0.18920	-1.0491	0.14649	T	0.063	0.26172	T	9	0.07171339	0.10610	T	0.009787	0.25540	T	0.032	0.07718	0.187	0.09646	0.0551355673512	0.04727	0.34225498981728397	0.34138	.	.	0.220159992576	0.01319	T	0.001769	0.01195	T	-0.228104	0.16901	T	-0.565432	0.15870	T	0.0765133462810067	0.09535	T	0.351465	0.07848	T	0.026889374	0.01805	0.051629107	0.08347	0.026889374	0.01805	0.051629107	0.08346	-4.376	0.29230	T	.	.	0.086	0.10545	B	.	.	-0.148329	0.03363	0.598	0.66451135673158057	0.08063	0.01487	0.04941	N	AEFDGBI	0.030755	0.03155	N	-1.31736065308022	0.03476	0.1553581	-1.3800663621557	0.03465	0.1616836	0.355341893849647	0.19724	0.549168	0.22868	0	0.627178	0.54094	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	3.4	-0.735	0.10575	-0.269000	0.08626	-0.537000	0.08604	-0.794000	0.03222	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3466:0.5232:0.1302:0.0	5.101	0.14096	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2820.98	34	chr20	46541431	.	G	T	2820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.55;DP=933;ExcessHet=0.0000;FS=2.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.63;ReadPosRankSum=0.962;SOR=0.946	GT:AD:DP:GQ:PL	0/1:64,96:160:99:2835,0,1521	20	0	1	0
chr20	48639834	48639834	T	C	exonic	PREX1	.	nonsynonymous SNV	PREX1:NM_020820:exon30:c.A3836G:p.Q1279R,	.	.	418	1102	2	0	0	2	0.000906618	.	.	3195359	PREX1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.023	B	0.019	B	0.070	U	0.813	D	1.01	L	1.2	T	-1.034	T	0.063	T	0.122	2.463	14.19	4.08	0.927	3.926	8.530	0.033	0.00687883017877	0.0020	0.000998403	0.0028	0.0003	0.0016	0	0.0009	0.0041	0.0022	0.0018	0.0027296	422	154602	rs143830265	0.0037	0.0037	0.0037	0.0036	0.0043	0.0036	0.0036	0.0042	0.0042	0.0005	0.0025	0.0002	2.519e-05	0.0016	0.0012	0.0043	0.0029	0.0019	0.0025	0.0026	0.0027	0.0024	0.0042	0.0023	0.0023	0.0036	0.0034	0.0007	0	0.0042	0	0	0.0014	0	0.0040	0.0019	0.0010	0.099	0.30656	T	0.218	0.26066	T	0.001	0.07471	B	0.003	0.08700	B	0.070317	0.21548	U	0.385688	0.813027	0.34668	D	0.97	0.24054	L	1.2	0.37405	T	-0.73	0.20576	N	0.111	0.09772	-1.0342	0.19109	T	0.063	0.26101	T	10	0.0060810745	0.00137	T	0.006879	0.18205	T	0.033	0.08068	.	.	0.450867454232	0.44710	0.37541621918837764	0.37455	0.369583947691	0.38485	0.435956090689	0.30024	T	0.054298	0.29684	T	-0.525146	0.00410	T	-0.526708	0.19617	T	0.00644917836514222	0.00072	T	0.762724	0.38847	T	0.09386067	0.22055	0.08241405	0.18807	0.09386067	0.22055	0.08241405	0.18806	-3.934	0.22813	T	.	.	0.101	0.17742	B	.	.	2.678114	0.34927	19.76	0.9947502008096325	0.66579	0.88500	0.48456	D	AEFGBCI	0.464442	0.51293	N	-0.225161230224869	0.32104	1.807018	-0.0580162418324101	0.37144	2.170986	0.999999981928159	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.19	4.08	0.46880	3.769000	0.55013	5.036000	0.46868	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1497:0.0:0.8503	8.530	0.32492	819	0.41190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	782.98	46	chr20	48639834	.	T	C	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.890e-01;DP=848;ExcessHet=0.0000;FS=0.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=1.16;SOR=0.832	GT:AD:DP:GQ:PL	0/1:45,37:82:99:797,0,1063	20	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.72	T	0.381	D	0.611	D	0.955	5.001	29.4	5.25	2.455	7.813	18.871	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	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3182	1110.73	33	chr20	51516834	.	C	G	1110.73	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.139e+00;DP=1283;ExcessHet=2.5830;FS=294.373;InbreedingCoeff=-0.4045;MLEAC=10;MLEAF=0.455;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=-4.600e-02;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,18:52:50:.:.:50,0,507	4	0	7	10
chr20	53576159	53576159	A	G	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon4:c.T2605C:p.S869P	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.0	B	0.005	N	1.000	N	1.245	L	2.92	T	-1.059	T	0.007	T	0.024	1.171	9.765	-10.1	-3.372	-2.754	5.205	0.021	.	0.0093	0.00579073	0.0021	0.0234	0.0006	0	0	7.492e-05	0	0.0001	0.0019469	301	154602	rs34533727	0.0008	0.0008	0.0009	0.0007	0.0280	0.0007	0.0007	0.0265	0.0259	0.0280	0.0012	0	0	0	0.0029	3.597e-05	0.0015	8.115e-05	0.0076	0.0076	0.0073	0.0078	0.0269	0.0072	0.0071	0.0256	0.0251	0.0269	0	0.0011	0	0	0	0.0034	2.941e-05	0.0062	0.0002	0.347	0.12428	T	0.252	0.23570	T	0.0	0.02946	B	0.0	0.01387	B	0.004925	0.01052	N	2.706720	1	0.08975	N	0.77	0.19370	N	2.92	0.09915	T	-1.04	0.27259	N	0.052	0.02366	-1.0589	0.12032	T	0.007	0.02478	T	10	0.0033615828	0.00058	T	.	.	.	0.021	0.04004	.	.	0.043077524339	0.03247	0.019413054824994527	0.01895	0.284023243776	0.30833	0.279278099537	0.07391	T	0.064579	0.32470	T	-0.780588	0.00011	T	-0.873087	0.00714	T	0.0121820117041624	0.00195	T	0.239776	0.03423	T	0.039135423	0.05346	0.042958	0.05234	0.039135423	0.05346	0.042958	0.05234	-3.654	0.18641	T	.	.	0.069	0.02960	B	.;.	.;.	-1.174457	0.00557	0.013	0.62081987616873346	0.06872	0.04676	0.10356	N	AEFBCI	0.036756	0.04948	N	-1.81278722058596	0.00514	0.02214876	-1.97190981643906	0.00351	0.01548699	0.99999999999747	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.03	-10.1	0.00330	-2.764000	0.00854	-1.532000	0.05230	-1.263000	0.01289	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4723:0.3391:0.1035:0.0851	5.205	0.14610	990	0.01402	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1250.98	80	chr20	53576159	.	A	G	1250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.252;DP=1316;ExcessHet=0.0000;FS=2.945;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=1.77;SOR=0.947	GT:AD:DP:GQ:PL	0/1:103,55:158:99:1265,0,2632	20	0	1	0
chr20	57610337	57610337	G	A	exonic	ZBP1	.	nonsynonymous SNV	ZBP1:NM_001160418:exon6:c.C680T:p.S227L	.	.	425	1090	6	1	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.003	B	0.001	B	0.274	N	1.000	N	0.625	N	2.78	T	-0.999	T	0.035	T	0.141	0.758	8.014	-2.01	-0.842	0.177	6.254	0.024	0.00276879610424	0.0005	0.000399361	0.0002	0.0013	0	0	0	5.994e-05	0	0.0008	0.000207	32	154602	rs147660947	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	0.0001	0.0009	0.0007	0.0007	6.708e-05	0	0	0	0.0017	5.576e-05	0.0003	0.0007	0.0003	0.0003	0.0004	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	6.534e-05	0	0.0002	0	0	4.411e-05	0.0005	0	0.208	0.21224	T	0.475	0.14544	T	0.003	0.11197	B	0.001	0.04355	B	0.274332	0.03792	N	1.660540	1	0.08975	N	0.46	0.12951	N	2.77	0.19166	T	-3.04	0.66325	D	0.198	0.22357	-0.9986	0.30311	T	0.035	0.14900	T	10	0.011058569	0.00243	T	0.002769	0.05752	T	0.024	0.04979	.	.	0.0297737177859	0.01360	0.13514105519119388	0.13438	0.0416388823659	0.04473	0.351839631796	0.18193	T	0.020933	0.16390	T	-0.610148	0.00126	T	-0.70556	0.05527	T	0.00400829358743086	0.00043	T	0.522848	0.18591	T	0.069611475	0.15265	0.078054175	0.17447	0.069611475	0.15265	0.078054175	0.17447	-3.735	0.20999	T	.	.	0.088	0.11510	B	.;.	.;.	0.335904	0.07097	3.670	0.73928704971111314	0.10506	0.02582	0.07135	N	AEFDGBI	0.077967	0.15718	N	-1.63501630046524	0.01099	0.04773893	-1.6770460352064	0.01242	0.05597528	0.00569621942886428	0.11016	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.98	-2.01	0.07003	0.136000	0.15794	0.182000	0.15643	-0.692000	0.04118	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3565:0.1292:0.5143:0.0	6.254	0.20071	807	0.43470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1806.98	37	chr20	57610337	.	G	A	1806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.559;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=0.551;SOR=0.680	GT:AD:DP:GQ:PL	0/1:79,76:155:99:1821,0,1886	20	0	1	0
chr20	62324455	62324455	A	G	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon42:c.T5629C:p.S1877P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.952	D	0.000	U	1.000	D	2.14	M	0.04	T	-0.325	T	0.362	T	0.563	3.190	16.68	4.25	1.685	2.405	9.127	0.361	0.15942233487	.	.	.	.	.	.	.	.	.	.	.	.	.	rs916216649	1.37e-06	1.368e-06	0	2.755e-06	5.977e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.977e-05	0	0	0	0	0	0	0	0	1.315e-05	1.314e-05	2.57e-05	0	4.83e-05	2.19e-06	8.2e-07	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.002	0.79402	D	0.997	0.70673	D	0.952	0.69102	D	0.000030	0.55875	U	0.124562	0.999686	0.48270	D	1.955	0.52871	M	0.04	0.62051	T	-3.08	0.63323	D	0.618	0.63374	-0.3245	0.74295	T	0.362	0.72361	T	10	0.7736162	0.77280	D	0.159422	0.83963	D	0.361	0.68141	0.557	0.67547	0.656388501474	0.65352	0.5923614330281681	0.59166	.	.	0.46628895402	0.34173	T	0.141445	0.47650	T	0.0242786	0.54957	T	-0.202902	0.54371	T	0.938844680786133	0.60980	D	0.871113	0.57669	D	0.8704962	0.88900	0.84973776	0.91487	0.8704962	0.88902	0.84973776	0.91487	-11.4	0.81806	D	.	.	0.523	0.65607	A	.	.	3.830061	0.55357	23.6	0.99818654406857132	0.90150	0.95135	0.63566	D	AEFGBHCI	0.560850	0.56908	D	0.440435781189747	0.63664	4.604403	0.355795793642168	0.58859	4.059082	0.999880044818787	0.44867	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	2.473000	0.44803	3.290000	0.37298	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.8368:0.0:0.0:0.1632	9.127	0.35982	779	0.47767	Laminin EGF domain|Laminin EGF domain|TNFR/NGFR cysteine-rich region|Laminin EGF domain|EGF-like domain	.	.	.	.	.	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	0.02381	796.98	40	chr20	62324455	.	A	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.223;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.39;ReadPosRankSum=-7.140e-01;SOR=0.683	GT:AD:DP:GQ:PL	0/1:60,35:95:99:811,0,1508	20	0	1	0
chr20	62412675	62412675	C	G	exonic	RBBP8NL	.	nonsynonymous SNV	RBBP8NL:NM_080833:exon13:c.G1825C:p.G609R,	.	.	414	1098	10	0	0	10	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.002	B	0.896	N	1.000	N	0.49	N	2.21	T	-0.944	T	0.018	T	0.117	-1.762	0.010	-6.28	-1.713	-0.382	7.425	0.009	0.00370893324027	.	0.000599042	0.0005	0.0002	0	0	0	7.646e-05	0.0011	0.0034	0.0004334	67	154602	rs541334076	0.0002	0.0002	0.0002	0.0004	0.0034	0.0002	0.0002	0.0030	0.0029	0	0	3.827e-05	0	0	0.0030	4.227e-05	0.0001	0.0034	0.0002	0.0002	6.422e-05	0.0003	0.0031	0.0001	9.231e-05	0.0019	0.0015	7.215e-05	0	0	0	0	0	0	7.35e-05	0.0005	0.0031	1.0	0.00964	T	0.664	0.06427	T	0.001	0.07471	B	0.002	0.06944	B	0.895653	0.07323	N	1.073060	1	0.08975	N	0.6	0.15550	N	2.21	0.18414	T	-0.31	0.12099	N	0.187	0.20395	-0.9437	0.42025	T	0.018	0.07659	T	10	0.0039628446	0.00076	T	0.003709	0.08589	T	0.009	0.00846	0.143	0.04650	0.0551355673512	0.04727	0.020127441008813102	0.01965	0.0664678907798	0.07414	0.228260159492	0.01841	T	0.002254	0.01652	T	-0.685035	0.00045	T	-0.76046	0.03096	T	0.00579405762255192	0.00063	T	0.322868	0.06576	T	0.03517458	0.04089	0.059728425	0.11259	0.03517458	0.04089	0.059728425	0.11258	-4.582	0.31945	T	.	.	0.076	0.05935	B	.	.	-0.550220	0.01713	0.126	0.34319652011045199	0.02093	0.04401	0.09986	N	AEFDGBHCI	0.039691	0.05799	N	-1.95224618864562	0.00267	0.01147543	-2.03527943018272	0.00258	0.01136416	0.999999999996455	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.14	-6.28	0.01844	-1.652000	0.02090	-1.118000	0.06277	-2.422000	0.00288	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1802:0.1723:0.6474	7.425	0.26269	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	952.98	43	chr20	62412675	.	C	G	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.510e-01;DP=797;ExcessHet=0.0000;FS=5.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=1.05;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,40:88:99:0|1:62412675_C_G:967,0,1824:62412675	20	0	1	0
chr20	62754880	62754880	G	A	exonic	NTSR1	.	nonsynonymous SNV	NTSR1:NM_002531:exon2:c.G910A:p.V304I,	.	.	406	1074	42	0	0	42	0.0191781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.084	B	0.024	B	0.008	N	1.000	D	1.335	L	1.19	T	-1.064	T	0.032	T	0.452	2.222	13.39	4.01	1.940	8.163	16.474	0.193	.	0.0062	0.0225639	0.0144	0.0082	0.0088	0.0506	0.0007	0.0101	0.0099	0.0238	0.0103815	1605	154602	rs2273075	0.0081	0.0080	0.0077	0.0085	0.0368	0.0079	0.0079	0.0353	0.0346	0.0072	0.0073	0.0064	0.0368	0.0014	0.0200	0.0061	0.0102	0.0227	0.0090	0.0090	0.0089	0.0091	0.0352	0.0086	0.0084	0.0310	0.0294	0.0072	0	0.0121	0.0049	0.0352	0.0011	0.0204	0.0073	0.0099	0.0300	0.038	0.42783	D	0.11	0.37310	T	0.084	0.24799	B	0.024	0.20255	B	0.007801	0.31194	N	0.254669	0.999893	0.50595	D	1.265	0.31966	L	1.19	0.37578	T	-0.3	0.11913	N	0.182	0.19728	-1.0637	0.10855	T	0.032	0.13898	T	10	0.008374959	0.00190	T	.	.	.	0.193	0.47281	.	.	.	.	0.509259065189681	0.50847	0.376781133715	0.39117	0.539178967476	0.44329	T	0.075811	0.35267	T	-0.421426	0.01675	T	-0.349558	0.39255	T	0.028397520659595	0.01745	T	0.805019	0.45286	T	0.20894349	0.43145	0.2529774	0.50937	0.20894349	0.43145	0.2529774	0.50936	-4.525	0.31214	T	.	.	0.211	0.43949	B	.	.	3.154920	0.42722	21.6	0.99284567613437347	0.58043	0.93323	0.57910	D	AEFDGBCI	0.811549	0.73450	D	-0.283147476488811	0.29799	1.655778	-0.250873902885711	0.29741	1.668761	0.999999972392244	0.74766	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	4.01	4.01	0.45821	6.485000	0.73532	11.428000	0.92732	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:0.0:1.0:0.0	16.474	0.83969	856	0.34373	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	0.02381	353.98	47	chr20	62754880	.	G	A	353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.425e+00;DP=791;ExcessHet=0.0000;FS=4.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=-1.265e+00;SOR=0.195	GT:AD:DP:GQ:PL	0/1:30,15:45:99:368,0,1011	20	0	1	0
chr20	62896738	62896738	G	A	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon7:c.C1847T:p.P616L	.	.	421	1069	32	0	0	32	0.0147465	.	.	2824601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.002	B	0.001	B	0.269	N	1.000	N	-0.535	N	2.99	T	-0.961	T	0.009	T	0.077	-0.349	2.352	2.19	0.155	1.389	3.938	0.023	0.0161839697626	0.0012	0.00179712	0.0017	0	0.0009	0.0001	0	0.0020	0.0033	0.0033	0.0015718	243	154602	rs141286941	0.0013	0.0013	0.0012	0.0015	0.0243	0.0013	0.0013	0.0210	0.0198	0.0002	0.0013	0.0036	7.558e-05	1.882e-05	0.0243	0.0011	0.0022	0.0031	0.0014	0.0014	0.0015	0.0014	0.0035	0.0013	0.0012	0.0022	0.0018	0.0002	0	0.0017	0.0032	0	0	0.0170	0.0021	0.0043	0.0035	0.29	0.15303	T	0.447	0.15602	T	0.001	0.09854	B	0.0	0.04355	B	0.268630	0.15171	N	0.467007	1	0.08975	N	0.05	0.08135	N	2.99	0.13095	T	-2.02	0.49846	N	0.042	0.01911	-0.9607	0.39050	T	0.009	0.03096	T	10	0.003640741	0.00066	T	0.016184	0.37308	T	0.023	0.04649	.	.	0.082315109003	0.07666	0.17859476949119857	0.17778	0.376070962561	0.39050	0.312232494354	0.12243	T	0.120741	0.44321	T	-0.691157	0.00041	T	-0.768626	0.02813	T	0.00609465993545652	0.00067	T	0.69563	0.30512	T	0.029675107	0.02500	0.033476338	0.02250	0.029675107	0.02500	0.033476338	0.02250	-4.871	0.35407	T	.	.	0.059	0.01622	B	.;.;.	.;.;.	1.165825	0.15551	11.93	0.51831254512982572	0.04635	0.04233	0.09754	N	AEFDBCI	0.024205	0.01462	N	-1.17664540079205	0.05354	0.2438813	-1.11156375339998	0.07478	0.3639165	0.993926152137287	0.33413	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.58	2.19	0.26890	0.854000	0.27445	3.603000	0.39228	-0.135000	0.12811	0.065000	0.21925	0.972000	0.29809	0.001000	0.02609	0.6774:0.0:0.1332:0.1894	3.938	0.08811	798	0.45050	.;.;.	.	.	.	.	.	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	0.04762	3648.11	72	chr20	62896738	.	G	A	3648.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.22;DP=2002;ExcessHet=0.1072;FS=3.446;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.835;SOR=0.597	GT:AD:DP:GQ:PL	0/1:61,63:124:99:1627,0,1464	19	0	2	0
chr20	64068073	64068073	C	T	exonic	TCEA2	.	nonsynonymous SNV	TCEA2:NM_003195:exon4:c.C268T:p.R90W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.023	B	0.003	B	0.237	N	0.994	N	0.345	N	.	.	-1.052	T	0.061	T	0.341	2.898	15.65	3.51	2.257	0.553	8.66	0.072	0.0165187535976	.	.	4.433e-05	0	0	0.0001	0	6.366e-05	0	0	3.23e-05	5	154602	rs767883408	2.888e-05	3.215e-05	3.009e-05	2.767e-05	0.0004	2.163e-05	1.918e-05	6.612e-05	2.677e-05	0	4.559e-05	0	5.089e-05	0	0.0004	2.705e-05	9.986e-05	0	3.943e-05	3.94e-05	3.855e-05	4.035e-05	6.544e-05	1.716e-05	1.13e-05	1.972e-05	1.125e-05	2.413e-05	0	6.544e-05	0	0	0	0	5.881e-05	0	0	0.003	0.78490	D	0.005	0.79402	D	0.001	0.18885	B	0.002	0.08700	B	0.236521	0.15806	N	0.610508	0.996265	0.23642	N	0	0.06538	N	.	.	.	-2.91	0.69118	D	0.236	0.27316	-1.0525	0.13709	T	0.061	0.25383	T	9	0.078133136	0.12416	T	0.016519	0.37815	T	0.072	0.21020	.	.	0.354822389136	0.35094	0.2010188334595265	0.20018	0.669719564107	0.59375	0.348630309105	0.17720	T	0.21187	0.57276	T	-0.26262	0.12595	T	-0.38931	0.34632	T	0.136661472500068	0.15984	T	0.880112	0.61581	D	0.10773597	0.25475	0.11252127	0.27151	0.10773597	0.25475	0.11252127	0.27150	-9.414	0.70323	D	.	.	0.124	0.28693	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.924832	0.57328	23.8	0.99760633964888379	0.85011	0.18502	0.20287	N	AEFDBHI	0.331567	0.43125	N	-0.467374738005555	0.23155	1.241465	-0.360622280930225	0.26182	1.444515	0.999971360903183	0.50053	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	3.51	3.51	0.39297	-0.893000	0.04234	4.361000	0.43118	0.596000	0.33519	0.000000	0.06391	1.000000	0.68203	0.842000	0.39752	0.2883:0.7117:0.0:0.0	8.66	0.33248	.	.	.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	848.98	36	chr20	64068073	.	C	T	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.352e+00;DP=757;ExcessHet=0.0000;FS=0.879;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=1.84;SOR=0.883	GT:AD:DP:GQ:PL	0/1:36,40:76:99:863,0,833	20	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	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	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:117,146:263:99:3750,0,2863	6	6	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	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	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	0/1:123,100:223:99:2531,0,3283	6	6	9	0
chr21	13615163	13615163	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon2:c.G562A:p.V188I,	.	.	443	970	99	10	0	119	0.057795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.828	P	0.277	B	0.231	N	0.996	P	0.59	N	0.02	T	-0.958	T	0.103	T	0.189	0.879	8.566	0.47	0.155	2.071	3.756	0.122	0.00376332875409	.	.	.	.	.	.	.	.	.	.	0.0017011	263	154602	rs202239184	0	2.067e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.345	0.34477	T	0.828	0.46021	P	0.277	0.40197	B	0.230892	0.15923	N	0.510182	0.996496	0.22997	P	0.6	0.15550	N	0.02	0.62318	T	-0.67	0.19297	N	0.111	0.12484	-0.9580	0.39552	T	0.103	0.37969	T	9	0.14735743	0.27923	T	0.003763	0.08744	T	0.122	0.33800	0.594	0.72371	0.0675242888579	0.06100	0.04725406536774047	0.04668	.	.	0.770040154457	0.77431	T	0.011295	0.10097	T	-0.177465	0.24114	T	-0.492693	0.23110	T	0.224179267883301	0.21671	T	0.772023	0.41691	T	0.041820783	0.06228	0.031511057	0.01751	0.041820783	0.06228	0.031511057	0.01751	-4.42	0.29827	T	.	.	0.083	0.19398	B	.;.	.;.	0.741717	0.11111	7.758	0.90155155682714561	0.19433	0.40751	0.26506	N	AEFI	0.040205	0.05947	N	-0.58706486722076	0.19337	1.011209	-0.717818458711297	0.16516	0.874134	1.57862715642254E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	0.47	0.15957	1.445000	0.34690	.	.	-1.674000	0.00795	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.2531:0.0:0.7469:0.0	3.756	0.08111	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3777.11	39	chr21	13615163	.	G	A	3777.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.61;DP=984;ExcessHet=0.1072;FS=0.414;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=49.10;MQRankSum=0.715;QD=12.18;ReadPosRankSum=-9.160e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1336,0,1495	19	0	2	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V,	.	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	0/1:96,82:178:99:1753,0,2288	6	6	9	0
chr21	30881265	30881265	C	T	exonic	KRTAP11-1	.	nonsynonymous SNV	KRTAP11-1:NM_175858:exon1:c.G260A:p.R87Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.993	D	0.772	P	0.001	N	1.000	N	2.625	M	3.99	T	-1.025	T	0.030	T	0.335	3.220	16.79	3.44	1.398	1.165	14.436	0.138	0.0116620044545	7.7e-05	0.000199681	0.0001	0	0.0003	0	0	7.496e-05	0	0.0003	9.7e-05	15	154602	rs368602449	5.951e-05	5.951e-05	4.492e-05	7.425e-05	0.0009	4.883e-05	4.561e-05	0.0003	0.0002	0	0.0002	0	2.52e-05	0	0.0009	3.867e-05	0.0001	0.0002	3.941e-05	3.937e-05	3.855e-05	4.031e-05	0.0001	1.715e-05	1.129e-05	2.259e-05	1.125e-05	0	0	0.0001	0	0	0	0	5.881e-05	0	0	0.01	0.56456	D	0.163	0.31125	T	0.993	0.65571	D	0.772	0.56930	P	0.001147	0.40056	N	0.155844	1	0.08975	N	.	.	.	3.99	0.03268	T	-0.9	0.24244	N	0.157	0.16308	-1.0250	0.22083	T	0.030	0.13111	T	10	0.099481344	0.18057	T	0.011662	0.29506	T	0.138	0.37187	.	.	0.394837016283	0.39092	0.10821475807060425	0.10750	0.655370170623	0.58582	0.311800301075	0.12178	T	0.001068	0.00587	T	-0.402696	0.02223	T	-0.515898	0.20711	T	0.555301368236542	0.34677	D	0.626337	0.24237	T	0.18477063	0.39807	0.131798	0.31641	0.18477063	0.39807	0.131798	0.31640	-3.63	0.18292	T	.	.	0.074	0.05231	B	.	.	3.389725	0.46927	22.4	0.99911213154365919	0.98022	0.08552	0.14465	N	AEFBI	0.053198	0.09565	N	0.101792990974441	0.46547	2.893317	-0.0255660915200285	0.38564	2.273822	1.30070148954668E-4	0.05386	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.4	3.44	0.38486	1.191000	0.31747	0.260000	0.16533	0.599000	0.40250	0.376000	0.25973	0.002000	0.18203	0.986000	0.61781	0.0:0.7222:0.2778:0.0	14.436	0.66854	786	0.46839	.	.	.	.	.	.	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	0.02381	1876.98	33	chr21	30881265	.	C	T	1876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=1006;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=1.48;SOR=0.711	GT:AD:DP:GQ:PL	0/1:97,75:172:99:1891,0,2284	20	0	1	0
chr21	34614827	34614827	T	C	exonic	RCAN1	.	nonsynonymous SNV	RCAN1:NM_004414:exon1:c.A185G:p.Q62R,	.	.	380	1139	3	0	0	3	0.00131521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.002	B	0.684	N	1.000	D	-0.55	N	.	.	-1.078	T	0.059	T	0.058	0.795	8.185	2.1	0.574	0.498	6.304	0.078	0.352371672104	.	0.00119808	5.636e-05	0	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs528556911	6.192e-05	9.029e-05	3.986e-05	8.445e-05	0.0011	5.1e-05	4.691e-05	0.0005	0.0003	0.0003	5.959e-05	0	0.0001	0	0.0011	4.565e-05	0.0002	0.0001	7.31e-05	7.227e-05	5.197e-05	9.52e-05	0.0012	4.015e-05	3.159e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	5.933e-05	0	0.0002	0.193	0.20912	T	0.383	0.15842	T	0.0	0.02946	B	0.002	0.06944	B	0.683929	0.10235	N	0.854787	0.987265	0.24534	N	0.205	0.09354	N	.	.	.	-0.78	0.21644	N	0.072	0.04547	-1.0782	0.07701	T	0.059	0.24539	T	9	0.015578955	0.00327	T	0.352372	0.92302	D	0.078	0.22779	0.474	0.55020	0.082315109003	0.07666	.	.	0.48447268662	0.47353	0.838611245155	0.87883	D	0.274951	0.64747	T	-0.252364	0.13810	T	-0.60028	0.12788	T	0.0196221726740328	0.00665	T	0.531447	0.17660	T	0.10386237	0.24551	0.09591569	0.22769	0.10386237	0.24550	0.09591569	0.22768	-3.332	0.14153	T	.	.	0.077	0.06387	B	.	.	2.772777	0.36401	20.2	0.80761896155542157	0.13356	0.00662	0.02865	N	AEFDGBHCI	0.089112	0.18063	N	-0.771476851365781	0.14058	0.6971962	-0.625457403382101	0.18840	1.008225	0.9999986752979	0.74766	0.72623	0.87236	0	0.516746	0.08562	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	4.47	2.1	0.26226	0.517000	0.22539	3.047000	0.36105	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.21:0.0:0.79	6.304	0.20335	878	0.29785	.	.	.	.	.	.	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	0.02381	735.98	36	chr21	34614827	.	T	C	735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=782;ExcessHet=0.0000;FS=0.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.81;ReadPosRankSum=0.478;SOR=0.869	GT:AD:DP:GQ:PL	0/1:40,35:75:99:750,0,918	20	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	0/1:21,25,0:46:99:923,0,665,986,757,1743	5	1	7	3
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,61,0:128:99:0|1:44558605_G_A:2348,0,2630,2550,2813,5363:44558605	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,60,0:130:99:0|1:44558605_G_A:2304,0,2698,2514,2878,5393:44558605	0	17	3	0
chr21	44600767	44600767	-	CA	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.146_147insCA:p.A50Rfs*5,	.	.	398	1104	3	0	17	20	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0013	0.0003	0.0003	0.0025	0.0003	0.0002	0.0021	0.0019	0.0017	6.746e-05	0.0005	0.0025	0.0002	0	9.306e-05	0.0005	0.0012	0.0014	0.0054	0.0012	0.0016	0.0032	0.0013	0.0012	0.0027	0.0026	0.0032	0.0011	0.0009	0.0006	0.0023	0.0014	0	0.0005	0.0020	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	408.07	37	chr21	44600767	.	C	CCA	408.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.28;DP=1122;ExcessHet=0.1072;FS=46.102;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.63;MQRankSum=-1.444e+00;QD=2.08;ReadPosRankSum=-3.258e+00;SOR=4.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,12:104:99:0|1:44600767_C_CCA:213,0,3805:44600767	19	0	2	0
chr21	44600768	44600768	-	CTGCTGC	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.147_148insCTGCTGC:p.A50Lfs*26,	.	.	408	1098	8	1	7	17	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0013	0.0002	0.0002	0.0024	0.0002	0.0002	0.0020	0.0018	0.0014	2.305e-05	0.0004	0.0024	0.0002	0	7.187e-05	0.0004	0.0010	0.0013	0.0060	0.0011	0.0014	0.0032	0.0011	0.0010	0.0026	0.0024	0.0032	0.0012	0.0008	0.0003	0.0023	0.0012	0	0.0004	0.0023	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	409.51	37	chr21	44600768	.	G	GCTGCTGC	409.51	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.03;DP=1112;ExcessHet=0.1072;FS=46.102;InbreedingCoeff=-0.0769;MLEAC=2;MLEAF=0.053;MQ=57.75;MQRankSum=-1.444e+00;QD=2.09;ReadPosRankSum=-3.792e+00;SOR=4.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,12:104:99:0|1:44600767_C_CCA:213,0,3805:44600767	17	0	2	2
chr21	44600992	44600992	A	G	exonic	KRTAP10-7	.	nonsynonymous SNV	KRTAP10-7:NM_198689:exon1:c.A371G:p.Y124C,	.	.	400	1120	2	0	0	2	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	0.997	N	-1.32	N	6.12	T	-0.956	T	0.001	T	0.117	-0.641	1.169	1.41	-0.047	0.740	6.766	0.045	0.00177366407245	0.0007	.	0.0010	0.0016	0.0003	0.0003	0	5.993e-05	0	0.0056	0.0009989	26	26028	rs233308	0.0004	0.0007	0.0003	0.0005	0.0041	0.0004	0.0003	0.0038	0.0036	0.0022	9.002e-05	7.739e-05	0.0002	1.873e-05	0.0007	6.119e-05	0.0008	0.0041	0.0008	0.0030	0.0009	0.0008	0.0035	0.0007	0.0007	0.0022	0.0019	0.0024	0	0.0005	0	0	0	0	0.0001	0.0010	0.0035	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.997054	0.43598	D	.	.	.	.	.	.	.	.	.	0.093	0.07262	-0.9557	0.39970	T	0.001	0.00287	T	9	0.009441346	0.00213	T	0.001774	0.03012	T	.	.	.	.	0.44318313171	0.43938	0.034987585274720984	0.03445	.	.	0.238280236721	0.02637	T	.	.	.	-0.593468	0.00160	T	-0.618288	0.11319	T	0.000101533842098434	0.00001	T	0.00217578	0.00005	T	0.06432147	0.13634	0.07265843	0.15702	0.06432147	0.13634	0.07265843	0.15701	1.845	0.00060	T	.	.	0.059	0.00793	B	.	.	0.276085	0.06533	3.017	0.51907744867553907	0.04649	0.00279	0.01508	N	AEFDBI	0.012352	0.00132	N	-1.40052402262657	0.02635	0.1166113	-1.28660371055326	0.04610	0.2178882	0.113434485259947	0.16708	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	3.43	1.41	0.21461	1.001000	0.29384	0.160000	0.15395	-0.312000	0.06069	0.065000	0.21925	0.001000	0.17328	0.009000	0.08673	0.1048:0.3382:0.557:0.0	6.766	0.22755	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1752.98	37	chr21	44600992	.	A	G	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.875e+00;DP=2228;ExcessHet=0.0000;FS=1.016;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.32;MQRankSum=-1.374e+01;QD=7.10;ReadPosRankSum=0.466;SOR=0.771	GT:AD:DP:GQ:PL	0/1:155,92:247:99:1767,0,3979	20	0	1	0
chr21	44697568	44697568	G	A	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.G367A:p.V123I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.006	B	.	.	1.000	N	0.345	N	4.87	T	-0.904	T	0.004	T	0.067	-0.837	0.581	-5.57	-1.279	-0.528	11.624	0.018	0.00115749357804	7.7e-05	.	4.123e-05	0	0	0	0	5.993e-05	0	6.056e-05	3.23e-05	5	154602	rs367590451	3.968e-05	3.967e-05	3.948e-05	3.988e-05	0.0002	3.113e-05	2.847e-05	3.373e-05	3.038e-05	0	2.238e-05	0	2.519e-05	0	0.0002	4.407e-05	3.312e-05	4.639e-05	4.63e-05	4.607e-05	6.462e-05	2.709e-05	8.84e-05	2.122e-05	1.535e-05	3.769e-05	2.58e-05	0	0	0	0	0	9.651e-05	0	8.84e-05	0	0	0.208	0.19782	T	0.313	0.19539	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	4.87	0.01449	T	-0.48	0.15379	N	0.097	0.07811	-0.9038	0.47583	T	0.004	0.01261	T	9	0.042086095	0.02924	T	0.001157	0.01459	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.02722406819878973	0.02672	0.218754404323	0.24414	0.209964349866	0.00810	T	7.34E-4	0.00340	T	-0.518125	0.00451	T	-0.800499	0.01890	T	0.0354380838637341	0.02884	T	0.049595	0.00352	T	0.026195759	0.01647	0.035103858	0.02698	0.026195759	0.01646	0.035103858	0.02698	-5.967	0.46003	T	.	.	0.077	0.06205	B	.	.	-0.287014	0.02674	0.344	0.67640761502794311	0.08415	0.01210	0.04304	N	AEFBI	0.030483	0.03078	N	-1.70806135961625	0.00814	0.03517337	-1.80224772458997	0.00752	0.03352193	0.999940128944892	0.47345	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.530356	0.10902	0	.	.	2.93	-5.57	0.02321	-2.146000	0.01380	-9.174000	0.00857	-2.217000	0.00350	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2542:0.0:0.7458:0.0	11.624	0.50394	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4684.98	38	chr21	44697568	.	G	A	4684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1297;ExcessHet=0.0000;FS=6.987;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=-1.047e+00;QD=11.29;ReadPosRankSum=0.218;SOR=0.787	GT:AD:DP:GQ:PL	0/1:218,197:415:99:4699,0,5085	20	0	1	0
chr21	44787954	44787954	C	G	exonic	UBE2G2	.	nonsynonymous SNV	UBE2G2:NM_003343:exon3:c.G91C:p.E31Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.882	P	0.000	D	1.000	D	2.86	M	1.12	T	-0.403	T	0.285	T	0.631	4.396	23.3	5.52	2.595	4.947	16.391	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;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	105.98	35	chr21	44787954	.	C	G	105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.187e+00;DP=1218;ExcessHet=0.0000;FS=118.139;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.61;ReadPosRankSum=2.11;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,30:173:99:0|1:44787949_C_G:120,0,5261:44787949	20	0	1	0
chr21	46287125	46287125	-	A	splicing	YBEY	NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs530846715	0.0005	0.0032	0.0004	0.0005	0.0018	0.0004	0.0004	0.0014	0.0012	0.0018	0.0010	0.0006	0.0015	0.0004	0.0012	0.0003	0.0005	0.0012	0.0005	0.0005	0.0004	0.0005	0.0013	0.0004	0.0003	0.0010	0.0009	0.0012	0	6.661e-05	0	0.0008	0.0002	0	7.419e-05	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8455.27	32	chr21	46287125	.	T	TAAAAAA,TAAAAA,TA	8455.27	.	AC=7,7,1;AF=0.167,0.167,0.024;AN=42;BaseQRankSum=-1.320e+00;DP=957;ExcessHet=0.1361;FS=1.223;InbreedingCoeff=0.2741;MLEAC=7,7,1;MLEAF=0.167,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.35;ReadPosRankSum=-9.300e-02;SOR=0.767	GT:AD:DP:GQ:PL	1/2:0,9,17,0:32:99:1265,472,379,203,0,103,887,423,194,797	10	0	3	0
chr21	46431973	46431973	A	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon38:c.A8155G:p.K2719E	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.98	D	0.701	P	0.003	N	0.995	N	1.04	L	4.64	T	-0.946	T	0.009	T	0.194	3.448	17.67	2.79	0.379	1.417	11.909	0.050	0.00890663867455	.	.	4.142e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs771959458	1.847e-05	1.847e-05	8.168e-06	2.888e-05	0.0003	1.265e-05	1.084e-05	0.0002	0.0002	0	0	0	0	0	0	8.993e-07	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.092	0.39954	T	0.966	0.56202	D	0.505	0.47795	P	0.003088	0.35449	N	0.000000	0.99479	0.23443	N	2.19	0.61577	M	4.64	0.01799	T	-2.33	0.51646	N	0.258	0.29197	-0.9461	0.41632	T	0.009	0.03315	T	10	0.16442165	0.30762	T	0.008907	0.23487	T	0.050	0.13987	0.245	0.17984	0.576874179423	0.57357	0.10850244875157723	0.10779	0.343834707981	0.36306	0.292673200369	0.09313	T	0.127045	0.45381	T	-0.427172	0.01542	T	-0.535224	0.18769	T	0.32207783955517	0.25906	T	0.473153	0.14076	T	0.18561676	0.39932	0.24421275	0.49882	0.18561676	0.39931	0.24421275	0.49881	-4.608	0.32272	T	.	.	0.168	0.36986	B	.	.	3.431932	0.47700	22.5	0.99710132285119768	0.81283	0.97501	0.75158	D	AEFDGBI	0.333528	0.43259	N	0.084593867511131	0.45744	2.825916	0.0823585541218907	0.43662	2.663318	0.999834577939866	0.43792	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.21	2.79	0.31792	3.117000	0.50099	2.153000	0.30925	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.762000	0.36218	0.5448:0.4552:0.0:0.0	11.909	0.52009	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1438.98	43	chr21	46431973	.	A	G	1438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.490e-01;DP=1039;ExcessHet=0.0000;FS=5.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-7.900e-01;SOR=1.198	GT:AD:DP:GQ:PL	0/1:67,57:124:99:1453,0,1765	20	0	1	0
chr22	19479987	19479987	C	G	exonic	CDC45	.	nonsynonymous SNV	CDC45:NM_001178010:exon1:c.C19G:p.R7G	Meier-Gorlin syndrome 7, Autosomal recessive	.	422	1097	3	0	0	3	0.0013655	.	.	798053	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.955	P	0.554	P	0.000	D	1.000	D	2.31	M	1.81	T	-0.745	T	0.141	T	0.908	4.713	26.2	4.28	1.561	2.838	13.269	0.286	0.0624737005561	0.0008	0.00119808	0.0015	0.0003	0.0014	0	0.0005	0.0018	0.0022	0.0018	0.0014942	231	154602	rs147730653	0.0012	0.0012	0.0012	0.0012	0.0019	0.0011	0.0011	0.0016	0.0015	8.961e-05	0.0019	3.827e-05	0	0.0005	0.0005	0.0013	0.0010	0.0017	0.0012	0.0012	0.0011	0.0012	0.0029	0.0010	0.0010	0.0023	0.0020	0.0002	0.0077	0.0029	0	0	0.0004	0.0068	0.0015	0.0019	0.0019	0.028	0.53900	D	0.047	0.55759	D	0.881	0.48446	P	0.414	0.44907	B	0.000001	0.62929	D	0.098330	1	0.81001	D	2.81	0.81869	M	1.81	0.47477	T	-4.16	0.77881	D	0.842	0.83781	-0.7450	0.58195	T	0.141	0.46054	T	10	0.012328148	0.00265	T	0.062474	0.68663	D	0.286	0.60456	.	.	0.526437037968	0.52289	0.6790420802326358	0.67843	1.05904356239	0.76417	0.717340230942	0.69659	T	0.396885	0.75540	T	-0.0729052	0.40862	T	0.115716	0.77949	D	0.0788720697164536	0.09842	T	0.935106	0.78720	D	0.84202707	0.86753	0.71766865	0.83334	0.88631564	0.90195	0.7272498	0.83888	-10.903	0.79123	D	.	.	0.533	0.71031	A	.;.;.;.;.	.;.;.;.;.	4.657480	0.74301	26.1	0.99746332154707695	0.83927	0.67472	0.33445	D	AEFGBHCIJ	0.703920	0.65980	D	0.433117360986327	0.63252	4.555463	0.432311386879424	0.63588	4.595688	0.999999999999677	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.32	4.28	0.50183	3.265000	0.51264	7.518000	0.59719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9201:0.0:0.0799	13.269	0.59581	547	0.72440	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	558.98	33	chr22	19479987	.	C	G	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-3.720e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:33,27:60:99:573,0,728	20	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	25	583	905	9	0	923	0.441838	.	.	1196252	not_provided|Chronic_myelogenous_leukemia,_BCR-ABL1_positive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	9572.82	36	chr22	23311788	.	T	TCCGG	9572.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.511;DP=1943;ExcessHet=20.9642;FS=19.140;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=55.14;MQRankSum=-7.359e+00;QD=5.78;ReadPosRankSum=0.550;SOR=1.916	GT:AD:DP:GQ:PL	0/1:76,24:100:99:779,0,3119	5	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	59	994	464	5	0	474	0.192526	.	.	247185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.986	D	0.771	P	0.000	D	1.000	D	1.13	L	2.66	T	-1.146	T	0.053	T	0.225	5.285	33	4.49	2.258	9.533	16.632	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1509.16	36	chr22	23311830	.	G	A	1509.16	.	AC=9;AF=0.214;AN=42;BaseQRankSum=2.22;DP=1620;ExcessHet=4.7172;FS=18.276;InbreedingCoeff=-0.2741;MLEAC=9;MLEAF=0.214;MQ=57.72;MQRankSum=-8.970e+00;QD=1.86;ReadPosRankSum=-2.564e+00;SOR=2.383	GT:AD:DP:GQ:PL	0/1:78,17:95:99:230,0,1924	12	0	9	0
chr22	26026666	26026666	G	A	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.G6695A:p.R2232Q	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.116	B	0.008	B	0.497	N	1.000	N	0.4	N	-2.21	D	-0.737	T	0.348	T	0.11	1.672	11.55	-7.57	-1.435	-0.811	8.215	0.008	0.0650720746779	8.3e-05	.	1.68e-05	0	0	0	0	1.522e-05	0	6.109e-05	1.29e-05	2	154602	rs373233326	6.842e-06	6.84e-06	8.168e-06	5.501e-06	1.159e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.656e-05	1.159e-05	1.316e-05	1.313e-05	1.285e-05	1.347e-05	4.832e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.832e-05	0	0	0	0	0	0	0	0	0	0.544	0.06713	T	0.388	0.15602	T	0.07	0.23866	B	0.003	0.08700	B	0.497269	0.05071	N	1.378230	1	0.08975	N	0.455	0.12820	N	-2.21	0.87116	D	-1.42	0.34992	N	0.05	0.02861	-0.7373	0.58591	T	0.348	0.71249	T	10	0.057952195	0.06737	T	0.065072	0.69469	D	0.149	0.39377	.	.	0.449187354989	0.44539	0.1980927915988317	0.19726	0.0761378595763	0.08550	0.190037697554	0.00226	T	0.031175	0.21919	T	-0.290989	0.09537	T	-0.474234	0.25060	T	0.0259905178885366	0.01405	T	0.548145	0.18826	T	0.02490069	0.01370	0.037624974	0.03456	0.02490069	0.01369	0.037624974	0.03456	-4.513	0.31058	T	.	.	0.070	0.03736	B	.;.;.	.;.;.	-0.439972	0.02067	0.190	0.93610990977322095	0.23473	0.01483	0.04933	N	AEFBI	0.071009	0.14119	N	-1.51664266694787	0.01740	0.07618522	-1.62362731931674	0.01518	0.06873288	0.995275743779153	0.34040	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.36	-7.57	0.01176	-0.955000	0.03979	-2.655000	0.03502	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.5955:0.1124:0.2921:0.0	8.215	0.30667	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	5202.98	34	chr22	26026666	.	G	A	5202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.22;DP=1351;ExcessHet=0.0000;FS=1.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.028e+00;SOR=0.789	GT:AD:DP:GQ:PL	0/1:198,199:397:99:5217,0,4904	20	0	1	0
chr22	30612919	30612919	A	G	exonic	TCN2	.	nonsynonymous SNV	TCN2:NM_000355:exon3:c.A304G:p.M102V	Transcobalamin II deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.482	P	0.192	B	0.015	N	1.000	D	1.21	L	2.55	T	-1.095	T	0.050	T	0.24	-0.164	3.200	3.28	0.371	1.840	7.372	0.022	0.00473443870241	.	.	1.653e-05	0	0	0	0	3.009e-05	0	0	1.29e-05	2	154602	rs763879488	4.104e-06	4.104e-06	5.445e-06	2.75e-06	2.987e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	2.987e-05	2.236e-05	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878	0.14352	T	0.395	0.15506	T	0.482	0.36779	P	0.111	0.31539	B	0.015121	0.28339	N	0.451625	0.981215	0.25056	N	2.28	0.64929	M	2.55	0.33412	T	-0.85	0.23156	N	0.258	0.33904	-1.0953	0.04709	T	0.050	0.21261	T	10	0.25811082	0.43234	T	0.004734	0.11784	T	0.022	0.04323	0.689	0.82653	0.539206206136	0.53571	0.2959239555765157	0.29505	0.00935334602833	0.00849	0.330963075161	0.15080	T	0.039826	0.25322	T	-0.22311	0.17570	T	-0.494612	0.22909	T	0.0921735609875855	0.11473	T	0.60024	0.22995	T	0.042714678	0.06527	0.04451591	0.05784	0.042714678	0.06526	0.04451591	0.05784	-2.484	0.05801	T	0.5890810490218252	0.65587	0.080	0.10594	B	.;.;.;.	.;.;.;.	2.386366	0.30640	18.50	0.80326709130820639	0.13150	0.52525	0.29152	D	AEFDBHCI	0.225850	0.34988	N	-0.253697585293724	0.30957	1.731072	-0.137262894767306	0.33903	1.944268	0.998147873922527	0.36487	0.706548	0.73137	0	0.69481	0.67340	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.41	3.28	0.36691	2.120000	0.41591	5.371000	0.48428	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.953000	0.50222	0.8193:0.0:0.1807:0.0	7.372	0.25978	583	0.69484	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	843.98	33	chr22	30612919	.	A	G	843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e-01;DP=760;ExcessHet=0.0000;FS=5.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=0.195;SOR=0.212	GT:AD:DP:GQ:PL	0/1:23,34:57:99:858,0,508	20	0	1	0
chr22	32233024	32233024	T	C	exonic	SLC5A4	.	nonsynonymous SNV	SLC5A4:NM_014227:exon9:c.A896G:p.Q299R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.965	D	0.982	D	0.000	D	1.000	D	3.995	H	-2.42	D	0.981	D	0.877	D	0.954	2.911	15.70	4.69	2.098	7.762	12.397	0.898	0.0427658781163	.	.	8.29e-06	0	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs756791616	5.475e-06	5.472e-06	9.533e-06	1.376e-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	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.0	0.92824	D	0.965	0.56013	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.395	0.91620	M	-2.42	0.88611	D	-3.88	0.72710	D	0.939	0.94550	0.981	0.96870	D	0.877	0.95904	D	10	0.9857892	0.98852	D	0.042766	0.60635	D	0.898	0.97135	0.907	0.98068	0.693223118719	0.69058	0.9572486635417619	0.95709	0.704328707761	0.61311	0.580861449242	0.50207	T	0.392316	0.75202	T	0.43427	0.91745	D	0.386022	0.91643	D	0.977867841720581	0.72047	D	0.890111	0.62362	D	0.57511425	0.71341	0.53309596	0.73021	0.57511425	0.71342	0.53309596	0.73021	-10.201	0.75106	D	.	.	0.840	0.79219	P	.	.	4.594764	0.72715	25.9	0.99770621867506293	0.85834	0.98215	0.80611	D	AEFGBI	0.923518	0.90012	D	0.77423900253216	0.84472	8.297098	0.614332274054689	0.75980	6.407495	0.999999999981489	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	4.69	4.69	0.58546	7.912000	0.86869	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.739000	0.35404	0.0:0.0:0.0:1.0	12.397	0.54723	282	0.88846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1507.98	34	chr22	32233024	.	T	C	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.142e+00;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=1.63;SOR=0.716	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1522,0,1708	20	0	1	0
chr22	36265601	36265601	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G711C:p.R237S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.002	B	0.001	B	0.001	N	1.000	N	0.345	N	3.93	T	-0.936	T	0.006	T	0.17	-0.705	0.957	-6.25	-2.958	-2.146	1.741	0.011	0.000907701874081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.085e-06	0.0006	2.76e-06	1.4e-06	2.728e-06	5.6e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.728e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.30375	T	0.283	0.46632	T	0.002	0.09854	B	0.001	0.04355	B	0.000540	0.00634	N	5.050130	1	0.08975	N	0	0.06538	N	3.93	0.03435	T	-0.32	0.12283	N	0.052	0.05287	-0.9365	0.43164	T	0.006	0.02131	T	10	0.08132845	0.13302	T	9.08E-4	0.00866	T	0.011	0.01250	0.408	0.44230	0.185906805712	0.18197	0.18011142860078055	0.17930	0.0660165172608	0.07365	0.244562089443	0.03216	T	0.00853	0.07826	T	-0.342634	0.05208	T	-0.729947	0.04330	T	0.0890489221116852	0.11104	T	0.716728	0.32905	T	0.07998894	0.18304	0.038347237	0.03684	0.07998894	0.18304	0.038347237	0.03684	-1.822	0.02808	T	.	.	0.273	0.50708	B	.;.;.;.;.	.;.;.;.;.	-2.042542	0.00092	0.002	0.34530247570989991	0.02117	0.00520	0.02423	N	AEFDBI	0.218833	0.34379	N	-1.93437648620656	0.00291	0.01250946	-2.04200221281962	0.00249	0.0109851	0.999770420652857	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-2.263000	0.01256	-8.769000	0.00916	-1.311000	0.01235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2299:0.2804:0.3507:0.139	1.741	0.02774	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	234.82	143	chr22	36265601	.	G	C	234.82	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.960e+00;DP=2907;ExcessHet=0.0000;FS=168.767;InbreedingCoeff=-0.0566;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=1.51;ReadPosRankSum=2.06;SOR=9.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,31:167:99:.:.:248,0,4071	18	0	1	2
chr22	36265604	36265604	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G714C:p.E238D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.997	D	0.992	D	0.771	N	1.000	N	1.9	L	3.83	T	-1.024	T	0.022	T	0.109	2.068	12.87	-6.25	-1.115	-0.527	0.870	0.082	0.00111242078578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.196	0.28860	T	0.992	0.64738	D	0.989	0.78396	D	0.770951	0.06597	N	1.103480	1	0.08975	N	1.665	0.42610	L	3.83	0.03702	T	-1.87	0.43717	N	0.092	0.11483	-1.0243	0.22311	T	0.022	0.09421	T	10	0.27728033	0.45294	T	0.001112	0.01336	T	0.082	0.23913	0.507	0.60232	0.53906709209	0.53559	0.16556427240615473	0.16476	0.360721973955	0.37738	0.259047538042	0.04778	T	0.012596	0.11043	T	-0.333464	0.05853	T	-0.716774	0.04953	T	0.245490476489067	0.22670	T	0.777122	0.41012	T	0.06793174	0.14756	0.04626168	0.06409	0.06793174	0.14756	0.04626168	0.06409	-3.75	0.20954	T	.	.	0.137	0.29779	B	.;.;.;.;.	.;.;.;.;.	0.291250	0.06675	3.178	0.98905130924322504	0.48254	0.01941	0.05908	N	AEFDBI	0.220069	0.34487	N	-0.670268106369882	0.16873	0.8634436	-1.02054216251253	0.09334	0.4637797	0.994276953357058	0.33564	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-0.470000	0.06717	-7.429000	0.01158	-1.187000	0.01379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.341:0.3049:0.2002:0.1539	0.870	0.01134	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	364.04	140	chr22	36265604	.	G	C	364.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.697e+00;DP=2923;ExcessHet=0.0000;FS=398.004;InbreedingCoeff=-0.0918;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=2.14;ReadPosRankSum=3.61;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,44:170:99:.:.:376,0,4054	15	0	1	5
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.618	N	1.000	D	.	.	.	.	.	.	.	.	.	3.773	19.16	-2.28	-0.449	-1.035	3.413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	3603.9	128	chr22	36265782	.	G	T	3603.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.811e+00;DP=3016;ExcessHet=3.5521;FS=129.024;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.90;ReadPosRankSum=0.599;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,36:156:99:0|1:36265782_G_T:873,0,4580:36265782	13	0	8	0
chr22	36265787	36265787	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G897T:p.Q299H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.832	P	0.6	P	0.486	N	1.000	N	2	M	3.59	T	-0.987	T	0.028	T	0.143	1.827	12.07	0.676	0.477	1.048	7.454	0.076	0.00174566368718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.05	0.50514	T	0.832	0.46138	P	0.6	0.50752	P	0.486182	0.05010	N	1.272740	1	0.08975	N	1.98	0.53716	M	3.59	0.04544	T	-3.32	0.66085	D	0.056	0.07262	-0.9872	0.33298	T	0.028	0.11926	T	10	0.41554847	0.56516	T	0.001746	0.02934	T	0.076	0.22200	0.787	0.90993	0.536147182381	0.53264	0.1934163824026781	0.19259	0.198314738213	0.22208	0.238215714693	0.02632	T	0.036324	0.24062	T	-0.28305	0.10346	T	-0.644358	0.09354	T	0.571350753307343	0.35286	D	0.882812	0.60417	D	0.09095966	0.21301	0.08753992	0.20354	0.09095966	0.21301	0.08753992	0.20354	-4.203	0.26795	T	.	.	0.158	0.37293	B	.;.;.;.;.	.;.;.;.;.	1.086071	0.14694	11.25	0.98800888467532288	0.46445	0.06423	0.12427	N	AEFDBI	0.210716	0.33657	N	-0.470422674084812	0.23054	1.235307	-0.693552490859705	0.17120	0.908959	0.445296783057563	0.20490	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	0.676	0.17125	0.445000	0.21392	-1.627000	0.05032	-0.298000	0.06216	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5404:0.4596	7.454	0.26427	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2052.92	120	chr22	36265787	.	G	T	2052.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.138e+00;DP=2808;ExcessHet=0.6776;FS=120.485;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=0.964;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,36:153:99:0|1:36265782_G_T:861,0,4491:36265782	17	0	4	0
chr22	37510307	37510307	-	CTCCTT	exonic	CARD10	.	nonframeshift insertion	CARD10:NM_014550:exon4:c.813_814insAAGGAG:p.E273_P274insKE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16961.64	74	chr22	37510301	.	GCTCCTT	G,GCTCCTTCTCCTT	16961.64	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=-1.560e-01;DP=1329;ExcessHet=0.2067;FS=0.550;InbreedingCoeff=0.2125;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=27.36;ReadPosRankSum=0.379;SOR=0.644	GT:AD:DP:GQ:PL	0/1:34,65,0:99:99:2629,0,1165,2731,1362,4094	13	1	6	0
chr22	37621640	37621640	T	G	exonic	GGA1	.	nonsynonymous SNV	GGA1:NM_001001560:exon7:c.T553G:p.S185A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.248	B	0.206	B	0.032	N	1.000	D	1.795	L	0.95	T	-0.981	T	0.118	T	0.336	2.997	15.99	4.86	2.157	2.185	10.192	0.043	0.0083923629852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.14e-06	2.052e-06	2.816e-06	1.446e-06	3.782e-05	5.7e-07	1.6e-07	1.004e-05	4.78e-06	0	0	0	0	0	0	0	0	3.782e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.53900	T	0.059	0.49120	T	0.212	0.30008	B	0.146	0.33945	B	0.032112	0.25075	N	0.461885	0.999866	0.53665	D	1.79	0.46772	L	0.95	0.43279	T	-1.82	0.42763	N	0.35	0.39153	-0.9813	0.34701	T	0.118	0.41385	T	10	0.192759	0.35018	T	0.008392	0.22206	T	0.043	0.11576	0.169	0.07419	0.459148520276	0.45539	0.11466195704632573	0.11394	0.245738116212	0.27100	0.70672082901	0.68118	T	0.158086	0.50096	T	-0.123329	0.32581	T	-0.41493	0.31658	T	0.651047646999359	0.38506	D	0.661834	0.27137	T	0.23012257	0.45762	0.16130465	0.37526	0.23012257	0.45762	0.16130465	0.37525	-6.13	0.60291	T	.	.	0.154	0.35602	B	.;.;.;.;.	.;.;.;.;.	3.896678	0.56739	23.8	0.98980401388155193	0.49720	0.92818	0.56620	D	AEFDBHI	0.468553	0.51531	N	0.0413685485654708	0.43745	2.661562	0.159631037545225	0.47654	2.992439	0.999051462134588	0.38317	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.86	4.86	0.62624	1.412000	0.34322	5.936000	0.51400	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1484:0.0:0.0:0.8516	10.192	0.42206	929	0.16858	GAT domain;.;.;GAT domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	621.98	35	chr22	37621640	.	T	G	621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.900e-02;DP=747;ExcessHet=0.0000;FS=2.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.310;SOR=0.895	GT:AD:DP:GQ:PL	0/1:18,26:44:99:636,0,412	20	0	1	0
chr22	38682432	38682432	A	G	exonic	TOMM22	.	nonsynonymous SNV	TOMM22:NM_020243:exon2:c.A227G:p.K76R,	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.999	D	0.966	D	0.000	D	1.000	D	2.815	M	.	.	-0.142	T	0.457	T	0.673	5.171	32	5.25	1.976	6.551	15.138	0.402	0.0530367961043	7.7e-05	.	0.0002	0.0002	0	0	0	0.0004	0	0.0002	0.0002005	31	154602	rs144614555	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	0	0.0019	0	7.49e-05	0	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	9.656e-05	0	0	0.0020	0	9.423e-05	0	0.0003	0	0	0.269	0.16091	T	0.248	0.23845	T	0.999	0.77913	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.09	0.87444	M	.	.	.	-1.59	0.38345	N	0.2	0.22098	-0.1417	0.79123	T	0.457	0.78872	T	9	0.05865103	0.06929	T	0.053037	0.65308	D	0.402	0.71558	.	.	0.409069985131	0.40521	0.4947102426998851	0.49392	0.718610679393	0.62102	0.748560249805	0.74234	T	0.139588	0.47369	T	-0.0543263	0.43789	T	-0.0154885	0.69325	D	0.293455451726913	0.24733	T	0.730127	0.34567	T	0.35078353	0.57128	0.22174244	0.46995	0.35078353	0.57129	0.22174244	0.46994	-4.22	0.27040	T	.	.	0.130	0.27998	B	.	.	4.892187	0.80333	27.3	0.99828092720263095	0.91026	0.94228	0.60504	D	AEBCI	0.890882	0.82633	D	0.714501635042143	0.80583	7.326432	0.6716073211418	0.80229	7.252622	0.999999999991067	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	5.25	0.73169	5.420000	0.66180	10.982000	0.84611	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.138	0.72264	814	0.42100	.	.	.	.	.	.	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	0.02381	879.98	33	chr22	38682432	.	A	G	879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.098e+00;DP=800;ExcessHet=0.0000;FS=2.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-6.890e-01;SOR=1.035	GT:AD:DP:GQ:PL	0/1:41,39:80:99:894,0,1152	20	0	1	0
chr22	42126877	42126877	G	A	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon7:c.C1136T:p.P379L	.	.	3	1516	3	0	0	3	0.000988468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.99	D	0.761	P	0.718	N	0.962	N	2.6	M	-0.44	T	-0.562	T	0.398	T	0.182	2.974	15.91	-0.28	-0.316	-0.900	11.175	0.323	0.144987812844	.	0.000599042	0.0004	0.0011	0	0	0	0.0001	0	0.0005	0.0001921	5	26028	rs3021084	0.0001	0.0002	9.225e-05	0.0001	0.0006	9.07e-05	8.54e-05	0.0005	0.0004	0.0005	0.0001	0	0.0001	0	0.0005	6.158e-05	0.0001	0.0006	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	6.579e-05	0	0.0002	0	0	7.382e-05	0	0.0006	0.019	0.50132	D	0.073	0.48336	T	.	.	.	.	.	.	0.717800	0.09960	N	0.871665	0.971698	0.25640	N	1.255	0.31814	L	-0.44	0.69777	T	-3.77	0.76655	D	0.211	0.32370	-0.5623	0.66316	T	0.398	0.75045	T	10	0.07836032	0.12479	T	0.144988	0.82721	D	0.323	0.64522	.	.	0.774184965001	0.77210	0.5618480706216105	0.56111	0.444170810499	0.44332	0.272574156523	0.06479	T	0.015828	0.30526	T	-0.385736	0.02865	T	-0.467916	0.25742	T	0.0947852012280804	0.11773	T	0.964504	0.86967	D	0.1406056	0.32433	0.1346403	0.32257	0.1406056	0.32433	0.1346403	0.32256	-9.465	0.70840	D	.	.	0.205	0.44592	B	.;.;.;.;.	.;.;.;.;.	2.165884	0.27598	17.52	0.99575945526640208	0.72682	0.06982	0.13008	N	AEFI	0.399828	0.47496	N	-0.224322569620784	0.32137	1.809272	-0.434078138476595	0.24004	1.312076	1.18816738180606E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.604944	0.38103	0	.	.	4.85	-0.28	0.12248	-1.132000	0.03346	-4.030000	0.02383	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.787000	0.37188	0.0:0.0942:0.2238:0.682	11.175	0.47819	106	0.95650	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1511.98	33	chr22	42126877	.	G	A	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1039;ExcessHet=0.0000;FS=0.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.14;MQRankSum=-1.383e+00;QD=9.69;ReadPosRankSum=-1.135e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/1:89,67:156:99:1526,0,2096	20	0	1	0
chr22	42573937	42573937	A	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon10:c.A635G:p.Q212R	.	.	428	1066	25	2	1	30	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.001	B	0.340	N	0.851	N	-1.06	N	2.63	T	-0.932	T	0.007	T	0.282	-1.198	0.073	0.677	-0.231	0.253	9.210	0.042	0.00273946324379	0.0018	0.00239617	0.0023	0.0016	0.0004	0.0014	0.0027	0.0032	0.0022	0.0011	0.0030077	465	154602	rs138265477	0.0038	0.0047	0.0038	0.0038	0.0038	0.0037	0.0036	0.0037	0.0037	0.0010	0.0016	0.0099	0.0021	0.0062	0.0037	0.0038	0.0044	0.0026	0.0059	0.0077	0.0058	0.0060	0.0084	0.0055	0.0054	0.0075	0.0073	0.0019	0.0143	0.0049	0.0105	0.0013	0.0062	0.0106	0.0081	0.0048	0.0084	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.340459	0.13971	N	0.660400	1	0.28491	N	-1.545	0.00469	N	2.63	0.12884	T	1.04	0.01350	N	0.018	0.01911	-0.9322	0.43814	T	0.007	0.02518	T	10	0.0032922626	0.00057	T	0.002739	0.05665	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.12637963387391346	0.12563	0.00194193416123	0.00161	0.314020216465	0.12514	T	0.001342	0.00816	T	-0.616796	0.00115	T	-0.649366	0.08998	T	0.00100489590793231	0.00010	T	0.136686	0.03932	T	0.028621312	0.02227	0.04173513	0.04812	0.028621312	0.02227	0.04173513	0.04812	-0.233	0.04655	T	.	.	0.064	0.01645	B	.;.;.	.;.;.	-0.362353	0.02357	0.256	0.69060806457524659	0.08852	0.05371	0.11233	N	AEFDGBCI	0.028698	0.02576	N	-1.69285038434225	0.00867	0.03753006	-1.55999469358862	0.01908	0.08702481	4.14785957651922E-4	0.06899	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.05	0.677	0.17130	0.374000	0.20232	-0.109000	0.11851	-2.314000	0.00318	0.746000	0.29090	0.000000	0.08366	0.035000	0.13729	0.5051:0.0:0.4949:0.0	9.210	0.36477	254	0.90023	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	rs138265477	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	0.04762	127.11	73	chr22	42573937	.	A	G	127.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.24;DP=1140;ExcessHet=0.1072;FS=11.950;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.27;MQRankSum=-7.028e+00;QD=0.93;ReadPosRankSum=-2.921e+00;SOR=2.170	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,10:74:86:.:.:86,0,1687	19	0	2	0
chr22	45212334	45212334	G	A	exonic	KIAA0930	.	stopgain	KIAA0930:NM_015264:exon1:c.C10T:p.Q4X,	.	.	428	1091	3	0	0	3	0.001373	.	.	2819660	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.919	15.73	-1.47	-0.192	-0.788	4.865	.	.	0.0029	0.00199681	0.0038	0.0008	0.0014	0	0.0024	0.0059	0.0034	0.0020	0.0036481	564	154602	rs150665432	0.0039	0.0039	0.0038	0.0040	0.0052	0.0038	0.0038	0.0042	0.0042	0.0006	0.0021	0.0057	0	0.0039	0.0052	0.0043	0.0033	0.0024	0.0031	0.0031	0.0034	0.0029	0.0049	0.0029	0.0028	0.0045	0.0043	0.0008	0.0143	0.0022	0.0043	0	0.0019	0	0.0049	0.0052	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.029	0.05929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.37721	0.03244	T	-0.313108	0.43325	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	-0.192803	0.03128	0.501	0.97273141113812711	0.33144	0.06331	0.12329	N	ALL	0.041809	0.06406	N	-0.264687512630437	0.30521	1.702629	-0.700882714057974	0.16939	0.8984094	0.999999999998426	0.74766	0.693307	0.56506	0	0.379588	0.06130	0	0.658952	0.52864	0	0.372554	0.06265	0	.	.	2.41	-1.47	0.08312	-0.757000	0.04877	-0.195000	0.11000	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1506:0.3861:0.4633:0.0	4.865	0.12962	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	519.98	40	chr22	45212334	.	G	A	519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-02;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-8.390e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:22,21:43:99:534,0,585	20	0	1	0
chr22	46261984	46261984	T	C	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A1339G:p.R447G,	.	.	430	1082	9	1	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.425	B	0.136	B	0.468	N	1.000	N	1.39	L	-0.47	T	-0.849	T	0.222	T	0.305	2.023	12.72	5.18	2.082	1.251	14.520	0.202	0.0333634615805	0.0028	0.00159744	0.0029	0.0004	0.0042	0	0	0.0039	0.0033	0.0021	0.002859	442	154602	rs138648054	0.0032	0.0032	0.0032	0.0032	0.0050	0.0031	0.0031	0.0036	0.0031	0.0004	0.0021	0.0218	0	7.498e-05	0.0050	0.0031	0.0039	0.0028	0.0022	0.0022	0.0022	0.0022	0.0031	0.0020	0.0020	0.0028	0.0026	0.0005	0	0.0010	0.0222	0	0	0.0034	0.0031	0.0009	0.0019	0.064	0.36509	T	0.094	0.39645	T	0.425	0.35474	B	0.136	0.33270	B	0.467895	0.04909	N	1.329130	1	0.08975	N	1.59	0.40313	L	-0.47	0.70133	T	-1.21	0.30762	N	0.198	0.21839	-0.8487	0.52058	T	0.222	0.58550	T	10	0.012722552	0.00272	T	0.033363	0.54931	D	0.202	0.48754	.	.	0.594481630172	0.59126	0.5717681867786336	0.57104	.	.	0.224519848824	0.01587	T	0.26092	0.63235	T	-0.390525	0.02669	T	-0.336789	0.40707	T	0.0320356330174442	0.02311	T	0.466053	0.13673	T	0.18932635	0.40469	0.23438753	0.48654	0.18932635	0.40469	0.23438753	0.48653	-5.68	0.43515	T	.	.	0.181	0.39373	B	.	.	1.474486	0.18991	14.03	0.92803596724513682	0.22326	0.17380	0.19812	N	AEFBI	0.114120	0.22490	N	-0.493396017032117	0.22297	1.189566	-0.520587552811255	0.21595	1.168933	0.999999987850324	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.18	5.18	0.71140	1.321000	0.33283	0.370000	0.17667	0.665000	0.62972	0.004000	0.16614	0.000000	0.08366	0.068000	0.16518	0.0:0.0:0.0:1.0	14.520	0.67430	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1942.98	37	chr22	46261984	.	T	C	1942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.368e+00;DP=1081;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-3.510e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/1:99,80:179:99:1957,0,2653	20	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	369.11	13	chr22	50201141	.	C	G	369.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.263;DP=639;ExcessHet=0.1072;FS=1.397;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=1.00;SOR=0.430	GT:AD:DP:GQ:PL	0/1:5,14:19:99:289,0,100	19	0	2	0
chr22	50744797	50744797	G	A	exonic	ACR	.	nonsynonymous SNV	ACR:NM_001097:exon5:c.G856A:p.A286T,	.	.	437	1083	1	1	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	1.0	D	0.976	D	0.023	N	1.000	D	-0.015	N	0.29	T	-0.959	T	0.141	T	0.316	2.660	14.85	2.78	1.997	1.275	5.62	0.142	0.0231281468857	.	.	9.46e-05	0	0.0014	0	0	0	0	0	3.84e-05	1	26028	rs748831621	3.704e-05	3.831e-05	4.366e-05	3.035e-05	0.0011	2.902e-05	2.599e-05	0.0008	0.0007	0	0.0011	0	0	0	0	6.305e-06	0	0	1.319e-05	1.313e-05	1.289e-05	1.351e-05	0.0001	2.19e-06	8.2e-07	2.265e-05	9.09e-06	0	0	0.0001	0	0	0	0	0	0	0	0.251	0.17069	T	0.415	0.14326	T	1.0	0.90584	D	0.976	0.73562	D	0.022891	0.26547	N	0.183072	0.770584	0.29441	N	0.485	0.13215	N	0.29	0.58897	T	-1.11	0.28703	N	0.267	0.30233	-0.9585	0.39461	T	0.141	0.46202	T	10	0.07963368	0.12834	T	0.023128	0.46073	T	0.142	0.37995	0.351	0.34922	0.756286902179	0.75407	0.2225517324746304	0.22170	.	.	0.400285899639	0.25109	T	0.374576	0.73835	T	-0.397111	0.02418	T	-0.38875	0.34699	T	0.115687978345737	0.14004	T	.	.	.	0.10243359	0.24204	0.11175612	0.26959	0.10243359	0.24204	0.11175612	0.26959	-4.177	0.26417	T	.	.	0.149	0.32992	B	.	.	3.718024	0.53115	23.3	0.99824750091471992	0.90677	0.10035	0.15650	N	AEFGI	0.122348	0.23745	N	-0.168051263960591	0.34468	1.967831	-0.217789659097748	0.30899	1.74374	3.48572202509651E-5	0.03775	0.623552	0.39893	0	0.610034	0.51514	0	0.577349	0.28860	0	0.579976	0.35079	0	.	.	3.88	2.78	0.31702	1.151000	0.31263	4.596000	0.43977	0.614000	0.49286	0.127000	0.23295	1.000000	0.68203	0.807000	0.38039	0.1577:0.0:0.8423:0.0	5.62	0.16731	703	0.57489	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1744.98	45	chr22	50744797	.	G	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.642;DP=998;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.65;MQRankSum=-2.673e+00;QD=10.58;ReadPosRankSum=1.15;SOR=0.628	GT:AD:DP:GQ:PL	0/1:87,78:165:99:1759,0,1943	20	0	1	0
chrX	2949581	2949581	G	T	exonic	ARSL	.	nonsynonymous SNV	ARSL:NM_001282631:exon5:c.C415A:p.L139M	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.185	B	0.187	B	0.771	N	1.000	N	2.12	M	-3.48	D	-0.058	T	0.775	D	0.141	0.822	8.309	0.617	-0.027	-0.022	3.387	0.260	0.776129433328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.085	0.41573	T	0.185	0.29232	B	0.187	0.36167	B	0.771342	0.06599	N	1.137120	1	0.08975	N	1.685	0.43254	L	-3.48	0.94584	D	-1.25	0.31576	N	0.098	0.07949	-0.0578	0.81040	T	0.775	0.92353	D	10	0.27514297	0.45071	T	0.776129	0.98234	D	0.260	0.57221	0.469	0.54214	0.578813787709	0.57551	0.8251499603683399	0.82472	1.04755800621	0.76010	0.360966145992	0.19526	T	0.66639	0.90049	D	-0.0706902	0.41217	T	-0.339318	0.40421	T	0.123483844101429	0.14767	T	0.585341	0.21331	T	0.17103419	0.37713	0.08359563	0.19169	0.17103419	0.37713	0.08359563	0.19169	-4.551	0.31550	T	.	.	0.097	0.19032	B	.;.;.	.;.;.	0.747239	0.11166	7.807	0.91306905955294571	0.20567	0.07045	0.13072	N	AEFBI	.	.	.	.	.	.	.	.	.	0.988793743189767	0.31630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.56	0.617	0.16794	0.260000	0.18192	0.817000	0.21810	0.674000	0.70861	0.065000	0.21925	0.320000	0.24318	0.003000	0.05239	0.3711:0.0:0.432:0.1969	3.387	0.06853	1000	0.00083	Sulfatase, N-terminal;Sulfatase, N-terminal;Sulfatase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2628.98	33	chrX	2949581	.	G	T	2628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=885;ExcessHet=0.0000;FS=1.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-2.430e-01;SOR=0.816	GT:AD:DP:GQ:PL	0/1:92,96:188:99:2643,0,2296	20	0	1	0
chrX	6533824	6533883	TCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	-	exonic	VCX3A	.	nonframeshift deletion	VCX3A:NM_016379:exon3:c.423_482del:p.V160_E179del,	.	.	45	125	45	1	10	57	0.158249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0006	6.599e-05	0.0042	0.0004	0.0004	0.0031	0.0027	0.0003	0.0005	0.0028	0.0042	0.0009	0.0014	0.0003	0.0010	0.0004	0.0044	0.0088	0.0058	0	0.0074	0.0039	0.0038	0.0043	0.0039	0.0053	0.0028	0.0055	0.0040	0.0074	0.0053	0.0227	0.0036	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:50,0,7,0:57:43:.:.:43,661,8506,0,1967,1501,668,7629,2019,7511	2	0	1	11
chrX	6533823	6533883	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	0	exonic	VCX3A	.	.	.	.	.	627	586	269	6	34	315	0.193393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:50,0,7,0:57:43:.:.:43,661,8506,0,1967,1501,668,7629,2019,7511	2	0	1	11
chrX	7843938	7843938	A	0	exonic	VCX	.	.	.	.	.	446	1000	38	24	14	100	0.0412272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1098.86	416	chrX	7843938	.	A	G,*	1098.86	.	AC=1,2;AF=0.026,0.053;AN=38;BaseQRankSum=1.73;DP=4502;ExcessHet=0.3300;FS=24.150;InbreedingCoeff=-0.1053;MLEAC=1,2;MLEAF=0.026,0.053;MQ=40.47;MQRankSum=0.780;QD=2.13;ReadPosRankSum=-2.742e+00;SOR=2.256	GT:AD:DP:GQ:PL	0/1:177,59,0:236:99:1112,0,4355,1709,4349,7171	16	0	1	2
chrX	7843963	7843963	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G568A:p.V190M,	.	.	437	977	32	24	52	132	0.0393314	.	.	2823790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.96	D	0.35	B	.	.	1.000	N	-0.895	N	1.95	T	-0.975	T	0.015	T	0.15	-0.236	2.861	.	-2.086	-0.450	5.945	0.114	.	.	0.00397351	0.0023	0.0005	0.0015	0	0.0064	0.0024	0.0034	0.0033	0.0033311	515	154602	rs201876650	0.0058	0.0087	0.0070	0.0034	0.0127	0.0057	0.0056	0.0090	0.0078	0.0004	0.0027	0.0047	4.041e-05	0.0127	0.0127	0.0060	0.0058	0.0058	0.0042	0.0065	0.0052	0.0001	0.0066	0.0038	0.0037	0.0059	0.0056	0.0006	0	0.0016	0.0077	0	0.0070	0	0.0066	0.0033	0.0061	0.138	0.25873	T	0.106	0.37872	T	0.96	0.55278	D	0.35	0.42815	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	1.95	0.22474	T	-0.73	0.25986	N	0.067	0.03956	-0.9754	0.36037	T	0.015	0.06090	T	8	0.0065913796	0.00149	T	.	.	.	0.114	0.32008	.	.	0.043077524339	0.03247	0.0032430097609367696	0.00302	0.354020575304	0.37190	0.454822123051	0.32603	T	0.011581	0.10309	T	-0.720018	0.00028	T	-0.892538	0.00557	T	0.00885473886292793	0.00110	T	0.460954	0.13351	T	0.105991945	0.25061	0.08594243	0.19877	0.105991945	0.25061	0.08594243	0.19877	-6.074	0.46894	T	.	.	0.125	0.26514	B	.;.	.;.	1.214405	0.16076	12.30	0.56313972898184261	0.05526	0.00026	0.00253	N	AEFI	.	.	.	.	.	.	.	.	.	2.63253077637493E-4	0.06244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.318000	0.02813	-3.812000	0.02521	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6784:0.3216:0.0	5.945	0.18451	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	0.1111	1857.61	416	chrX	7843963	.	G	A,*	1857.61	.	AC=2,2;AF=0.056,0.056;AN=36;BaseQRankSum=1.90;DP=4808;ExcessHet=0.6776;FS=3.155;InbreedingCoeff=-0.1507;MLEAC=2,2;MLEAF=0.056,0.056;MQ=46.15;MQRankSum=1.89;QD=1.91;ReadPosRankSum=-2.610e+00;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:197,59,0:256:99:.:.:844,0,6880,1635,5455,7741	14	0	2	3
chrX	7843963	7843963	G	0	exonic	VCX	.	.	.	.	.	437	977	32	24	52	132	0.0393314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1857.61	416	chrX	7843963	.	G	A,*	1857.61	.	AC=2,2;AF=0.056,0.056;AN=36;BaseQRankSum=1.90;DP=4808;ExcessHet=0.6776;FS=3.155;InbreedingCoeff=-0.1507;MLEAC=2,2;MLEAF=0.056,0.056;MQ=46.15;MQRankSum=1.89;QD=1.91;ReadPosRankSum=-2.610e+00;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:197,59,0:256:99:.:.:844,0,6880,1635,5455,7741	14	0	2	3
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,249,0,0:249:99:.:.:10519,789,0,10496,789,10739,10496,789,10739,10739	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,249,0,0:249:99:.:.:10519,789,0,10496,789,10739,10496,789,10739,10739	0	8	6	4
chrX	16123996	16123996	C	T	exonic	GRPR	.	nonsynonymous SNV	GRPR:NM_005314:exon1:c.C43T:p.H15Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.248	N	1.000	N	1.1	L	1.29	T	-1.048	T	0.055	T	0.086	0.375	6.035	-1.3	-0.150	-0.076	4.651	0.149	0.102066324985	.	0.000264901	2.285e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs192252725	1.371e-05	1.366e-05	1.089e-05	1.947e-05	0.0002	8.23e-06	6.53e-06	8.61e-05	6.447e-05	0.0001	2.841e-05	0	0	0	0	0	4.35e-05	0.0002	2.693e-05	2.612e-05	2.572e-05	2.973e-05	9.78e-05	7.16e-06	2.98e-06	2.591e-05	1.418e-05	9.78e-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	0.0	0.01387	B	0.247597	0.03625	N	1.472120	1	0.08975	N	0.345	0.11182	N	1.29	0.35775	T	-0.03	0.07444	N	0.096	0.07673	-1.0480	0.14960	T	0.055	0.23186	T	10	0.022175014	0.00547	T	0.102066	0.77532	D	0.149	0.39377	.	.	0.517983797298	0.51440	0.5172656547949241	0.51649	0.394429896476	0.40597	0.26572728157	0.05591	T	0.110999	0.42615	T	-0.65249	0.00070	T	-0.915354	0.00403	T	0.00216764405370507	0.00022	T	0.417258	0.10990	T	0.044368282	0.07080	0.06320388	0.12486	0.044368282	0.07080	0.06320388	0.12486	-3.328	0.14100	T	.	.	0.086	0.10835	B	.	.	0.151370	0.05437	1.907	0.51451038584542763	0.04565	0.04848	0.10581	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.99992117201726	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.54	-1.3	0.08777	-0.048000	0.11898	-0.254000	0.10482	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.4955:0.201:0.0:0.3035	4.651	0.11979	440	0.80101	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1070.98	43	chrX	16123996	.	C	T	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.684;DP=799;ExcessHet=0.0000;FS=0.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-3.070e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1085,0,1280	20	0	1	0
chrX	19464336	19464336	C	T	exonic	MAP3K15	.	nonsynonymous SNV	MAP3K15:NM_001001671:exon4:c.G596A:p.S199N,	.	.	428	1085	5	4	0	13	0.00595511	.	.	706187	not_provided|MAP3K15-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	0.000	N	1.000	N	1.085	L	2.93	T	-1.053	T	0.019	T	0.076	0.759	8.020	2.61	0.189	1.341	6.784	0.070	.	0.0053	0.00344371	0.0051	0.0001	0.0065	0	0.0007	0.0076	0.0101	0.0006	0.0046183	714	154602	rs55916006	0.0058	0.0058	0.0059	0.0058	0.0097	0.0057	0.0057	0.0073	0.0065	0.0008	0.0050	0.0301	3.312e-05	0.0012	0.0097	0.0061	0.0070	0.0012	0.0044	0.0043	0.0045	0.0041	0.0059	0.0041	0.0039	0.0053	0.0051	0.0007	0	0.0059	0.0281	0	0.0005	0.0140	0.0058	0.0066	0.0023	0.115	0.28520	T	0.23	0.25135	T	.	.	.	.	.	.	0.000003	0.62929	N	0.135509	0.72938	0.31452	N	1.4	0.35362	L	2.93	0.09822	T	-1.4	0.34596	N	0.036	0.01068	-1.0527	0.13655	T	0.019	0.07893	T	8	0.003536582	0.00063	T	.	.	.	0.070	0.20419	.	.	0.298403945805	0.29456	0.5549259637513874	0.55419	0.0496078120372	0.05439	0.454575121403	0.32569	T	0.011514	0.10265	T	-0.809961	0.00006	T	-0.933201	0.00319	T	0.00641915535838144	0.00071	T	0.793521	0.43550	T	0.25714728	0.48757	0.20126945	0.44099	0.25714728	0.48757	0.20126945	0.44098	-4.795	0.34533	T	.	.	0.113	0.22318	B	.	.	0.328042	0.07020	3.582	0.97205353681153728	0.32829	0.64882	0.32552	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.0469937152480588	0.14713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4	2.61	0.30255	1.380000	0.33958	0.505000	0.19029	0.599000	0.40250	0.778000	0.29449	0.063000	0.22074	0.123000	0.19290	0.0:0.5839:0.2651:0.151	6.784	0.22850	937	0.14592	Domain of unknown function DUF4071	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1143.98	69	chrX	19464336	.	C	T	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.54;ReadPosRankSum=-1.180e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:86,48:134:99:1158,0,2111	20	0	1	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	1/4:1,34,0,0,52,0,0:87:99:2870,1823,1933,2981,1973,3230,2981,1973,3230,3230,1151,0,1364,1364,1340,2981,1973,3230,3230,1364,3230,2981,1973,3230,3230,1364,3230,3230	8	0	1	0
chrX	24364259	24364259	-	TGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGC:p.A543_P544insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	1/4:1,34,0,0,52,0,0:87:99:2870,1823,1933,2981,1973,3230,2981,1973,3230,3230,1151,0,1364,1364,1340,2981,1973,3230,3230,1364,3230,2981,1973,3230,3230,1364,3230,3230	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGC:p.A543_P544insAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	1/4:1,34,0,0,52,0,0:87:99:2870,1823,1933,2981,1973,3230,2981,1973,3230,3230,1151,0,1364,1364,1340,2981,1973,3230,3230,1364,3230,2981,1973,3230,3230,1364,3230,3230	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGC:p.A543_P544insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	1/4:1,34,0,0,52,0,0:87:99:2870,1823,1933,2981,1973,3230,2981,1973,3230,3230,1151,0,1364,1364,1340,2981,1973,3230,3230,1364,3230,2981,1973,3230,3230,1364,3230,3230	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	1/4:1,34,0,0,52,0,0:87:99:2870,1823,1933,2981,1973,3230,2981,1973,3230,3230,1151,0,1364,1364,1340,2981,1973,3230,3230,1364,3230,2981,1973,3230,3230,1364,3230,3230	8	0	1	0
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	2/3:0,0,14,33,0,0,0:47:99:1745,1764,1835,1231,1248,1204,526,605,0,568,1764,1835,1248,605,1835,1764,1835,1248,605,1835,1835,1764,1835,1248,605,1835,1835,1835	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	2/3:0,0,14,33,0,0,0:47:99:1745,1764,1835,1231,1248,1204,526,605,0,568,1764,1835,1248,605,1835,1764,1835,1248,605,1835,1835,1764,1835,1248,605,1835,1835,1835	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	2/3:0,0,14,33,0,0,0:47:99:1745,1764,1835,1231,1248,1204,526,605,0,568,1764,1835,1248,605,1835,1764,1835,1248,605,1835,1835,1764,1835,1248,605,1835,1835,1835	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	2/3:0,0,14,33,0,0,0:47:99:1745,1764,1835,1231,1248,1204,526,605,0,568,1764,1835,1248,605,1835,1764,1835,1248,605,1835,1835,1764,1835,1248,605,1835,1835,1835	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	2/3:0,0,14,33,0,0,0:47:99:1745,1764,1835,1231,1248,1204,526,605,0,568,1764,1835,1248,605,1835,1764,1835,1248,605,1835,1835,1764,1835,1248,605,1835,1835,1835	7	4	1	0
chrX	36071879	36071879	A	T	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon28:c.A4373T:p.D1458V,	.	.	436	1082	4	0	0	4	0.00184502	.	.	3206736	CFAP47-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.004	B	0.001	B	0.096	N	1.000	N	0.345	N	.	.	-1.057	T	0.047	T	0.158	1.190	9.838	-0.799	-0.268	0.635	0.365	0.035	0.00416932569255	0.0018	.	0.0012	0.0004	0.0015	0	0.0016	0.0018	0	0	0.001119	173	154602	rs144780406	0.0012	0.0012	0.0012	0.0011	0.0027	0.0011	0.0011	0.0015	0.0012	7.637e-05	0.0007	0.0020	0	0.0016	0.0027	0.0013	0.0015	0.0001	0.0011	0.0011	0.0012	0.0010	0.0017	0.0010	0.0009	0.0014	0.0013	0.0002	0.0087	0.0003	0.0019	0	0.0026	0	0.0017	0.0007	0	0.006	0.61437	D	0.035	0.52389	D	.	.	.	.	.	.	0.096226	0.02504	N	2.226620	1	0.08975	N	.	.	.	.	.	.	-2.04	0.46842	N	0.306	0.34552	-1.0569	0.12543	T	0.047	0.20235	T	9	0.008805841	0.00199	T	0.004169	0.10026	T	0.035	0.08770	.	.	0.082315109003	0.07666	0.23395377719231908	0.23310	0.199415716933	0.22337	0.28432738781	0.08102	T	.	.	.	-0.670173	0.00055	T	-0.741601	0.03823	T	0.0150458580020347	0.00324	T	0.562144	0.19728	T	0.088939875	0.20763	0.044682864	0.05844	0.088939875	0.20763	0.044682864	0.05844	-2.779	0.07991	T	.	.	0.087	0.13362	B	.;.	.;.	0.379934	0.07521	4.165	0.95786523930809275	0.27817	0.02533	0.07046	N	AEFGI	.	.	.	.	.	.	.	.	.	3.70217673108582E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.23	-0.799	0.10351	0.089000	0.14843	1.305000	0.25500	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.4084:0.2274:0.1397:0.2245	0.365	0.00344	512	0.75040	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1746.98	34	chrX	36071879	.	A	T	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.005e+00;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-3.082e+00;SOR=0.675	GT:AD:DP:GQ:PL	0/1:64,76:140:99:1761,0,1494	20	0	1	0
chrX	40064393	40064401	CAGTGGTCT	-	exonic	BCOR	.	nonframeshift deletion	BCOR:NM_001123384:exon6:c.3383_3391del:p.E1128_T1130del	Microphthalmia, syndromic 2, X-linked dominant	.	0	1521	0	1	0	2	0.00065703	.	.	513396	Oculofaciocardiodental_syndrome	MONDO:MONDO:0010261,MedGen:C1846265,OMIM:300166,Orphanet:2712	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1991.94	33	chrX	40064392	.	GCAGTGGTCT	G	1991.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.663e+00;DP=813;ExcessHet=0.0000;FS=10.321;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.75;ReadPosRankSum=1.60;SOR=0.204	GT:AD:DP:GQ:PL	0/1:45,51:96:99:2006,0,1727	20	0	1	0
chrX	49030447	49030447	C	G	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon10:c.G1124C:p.G375A	Renal cell carcinoma, papillary, 1	.	9	1500	4	7	2	20	0.00596421	.	.	743371	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.87	T	0.0	B	0.001	B	0.013	N	1.000	N	0.55	N	2.64	T	-0.980	T	0.019	T	0.07	-1.656	0.012	-7.86	-3.064	.	11.478	0.039	0.00321243265175	0.0012	0.000264901	0.0010	0.0008	0.0017	0.0009	0	0.0010	0	0.0010	0.0008473	131	154602	rs149649619	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0009	0.0011	0.0010	0.0007	0.0012	0.0003	0.0004	0.0001	0.0007	0.0011	0.0006	0.0010	0.0006	0.0007	0.0007	0.0005	0.0011	0.0005	0.0005	0.0006	0.0005	0.0005	0	0.0006	0	0.0011	0.0003	0	0.0008	0.0007	0.0004	0.333	0.13003	T	0.835	0.03663	T	0.0	0.02946	B	0.001	0.04355	B	0.012587	0.01340	N	3.423240	1	0.08975	N	-0.205	0.04094	N	2.64	0.12780	T	-0.22	0.10480	N	0.058	0.02964	-0.9800	0.35002	T	0.019	0.08173	T	10	0.009028733	0.00204	T	0.003212	0.07057	T	0.039	0.10176	.	.	0.082315109003	0.07666	0.3482871711273847	0.34742	0.0352480869995	0.03718	0.518507540226	0.41416	T	0.310375	0.68234	T	-0.915975	0.00000	T	-1.12389	0.00016	T	0.0070648804322078	0.00080	T	0.506749	0.16047	T	0.04144507	0.06106	0.0698852	0.14781	0.04144507	0.06106	0.0698852	0.14780	-3.827	0.21208	T	.	.	0.062	0.01215	B	.	.	-1.086482	0.00657	0.018	0.32482497332739219	0.01885	0.01711	0.05430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999846525099	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.93	-7.86	0.01052	-1.501000	0.02385	-2.162000	0.04122	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.719000	0.34739	0.0714:0.6347:0.1927:0.1012	11.478	0.49556	37	0.98026	MiT/TFE transcription factors, 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	1	0	0	0	0.02381	1456.98	33	chrX	49030447	.	C	G	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.72;ReadPosRankSum=-1.167e+00;SOR=0.644	GT:AD:DP:GQ:PL	0/1:103,64:167:99:1471,0,2554	20	0	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.081	B	0.006	B	0.033	N	0.592	D	0.975	L	2.36	T	-1.075	T	0.033	T	0.372	3.606	18.35	4.5	1.032	4.104	10.422	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1111	316.45	92	chrX	49039321	.	G	A	316.45	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.018e+00;DP=1222;ExcessHet=0.6776;FS=177.302;InbreedingCoeff=-0.1672;MLEAC=5;MLEAF=0.139;MQ=60.00;MQRankSum=0.00;QD=0.84;ReadPosRankSum=-3.700e-02;SOR=10.330	GT:AD:DP:GQ:PL	0/1:61,21:82:59:59,0,879	14	0	4	3
chrX	54809806	54809806	A	G	exonic	MAGED2	.	nonsynonymous SNV	MAGED2:NM_014599:exon3:c.A130G:p.K44E	Bartter syndrome, type 5, antenatal, transient, X-linked recessive	.	439	1082	0	1	0	2	0.000923361	.	.	439264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.99	T	0.99	D	0.979	D	0.000	D	1.000	N	0.805	L	0.98	T	-0.995	T	0.077	T	0.577	1.315	10.31	3.2	0.798	2.571	5.630	0.222	0.007661411742	0.0038	0.000794702	0.0040	0.0012	0.0015	0	0	0.0065	0.0027	0.0018	0.0029883	462	154602	rs11555928	0.0047	0.0047	0.0048	0.0047	0.0057	0.0046	0.0046	0.0056	0.0055	0.0006	0.0007	0.0021	0	0.0011	0.0002	0.0057	0.0035	0.0018	0.0027	0.0027	0.0029	0.0022	0.0048	0.0025	0.0024	0.0043	0.0041	0.0008	0	0.0009	0.0015	0	0.0010	0	0.0048	0.0020	0.0008	0.002	0.72154	D	1.0	0.42261	T	0.982	0.60036	D	0.952	0.69102	D	0.000102	0.50451	D	0.000000	1	0.19363	N	1.1	0.28011	L	0.96	0.42888	T	-0.43	0.20791	N	0.068	0.33469	-0.9950	0.31299	T	0.077	0.30798	T	10	0.0052116215	0.00113	T	0.007661	0.20325	T	0.222	0.51872	.	.	0.662532638527	0.65970	0.44486442733304665	0.44404	0.878080247472	0.69652	0.377601206303	0.21915	T	0.01894	0.15180	T	-0.486439	0.00680	T	-0.469178	0.25604	T	0.0270737403458536	0.01555	T	0.70223	0.31206	T	0.26182878	0.49242	0.33919218	0.59687	0.2900168	0.51994	0.37003294	0.62261	-2.668	0.07038	T	.	.	0.070	0.08224	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.226219	0.28416	17.79	0.98747854822047887	0.45602	0.54137	0.29542	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999912393134666	0.45857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	3.2	0.35826	1.213000	0.32011	3.906000	0.40380	0.756000	0.94297	0.622000	0.27931	0.967000	0.29559	0.597000	0.31313	0.8775:0.0:0.1225:0.0	5.630	0.16782	332	0.86382	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	859.98	34	chrX	54809806	.	A	G	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.350e-01;DP=762;ExcessHet=0.0000;FS=3.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=2.49;SOR=0.668	GT:AD:DP:GQ:PL	0/1:22,31:53:99:874,0,562	20	0	1	0
chrX	55015725	55015725	C	T	exonic	ALAS2	.	nonsynonymous SNV	ALAS2:NM_001037967:exon7:c.G910A:p.E304K	Anemia, sideroblastic, 1, X-linked recessive;Protoporphyria, erythropoietic, X-linked, X-linked dominant	.	.	.	.	.	.	.	.	.	.	1896061	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.22	T	0.854	P	0.547	P	0.000	D	1.000	D	0.435	N	-3.49	D	0.507	D	0.736	D	0.672	4.326	22.7	5.75	2.576	7.818	17.851	0.687	0.712871194819	9.5e-05	.	2.35e-05	0	0	0	0.0002	2.144e-05	0	0	1.29e-05	2	154602	rs142713771	1.639e-05	1.639e-05	1.361e-05	2.201e-05	3.695e-05	1.024e-05	8.45e-06	9.65e-06	7.55e-06	0	0	0	3.311e-05	2.468e-05	0	1.663e-05	0	3.695e-05	1.807e-05	1.742e-05	1.285e-05	3.04e-05	3.296e-05	3e-06	1.12e-06	.	.	3.296e-05	0	0	0	0	0	0	1.892e-05	0	0	0.155	0.24758	T	0.245	0.25748	T	0.854	0.47077	P	0.547	0.49095	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.295	0.03650	N	-3.49	0.94621	D	-1.85	0.43334	N	0.559	0.60325	0.507	0.90649	D	0.736	0.90976	D	10	0.5077619	0.61918	D	0.712871	0.97667	D	0.687	0.88585	.	.	0.901057772881	0.90007	0.9283277697895067	0.92810	0.891168684966	0.70239	0.752092659473	0.74755	T	0.583874	0.86415	D	0.177004	0.71768	D	0.166771	0.81216	D	0.303344666957855	0.25141	T	0.984901	0.94937	D	0.6094481	0.73198	0.65662134	0.79894	0.6094481	0.73200	0.65662134	0.79895	-5.915	0.45562	T	0.11194169468056868	0.09631	0.099	0.29505	B	.;.;.;.	.;.;.;.	4.020923	0.59386	24.1	0.99845160063174754	0.92489	0.97140	0.72924	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999999999999	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	5.75	0.90390	7.905000	0.86479	7.616000	0.62106	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.641000	0.32449	0.0:1.0:0.0:0.0	17.851	0.88658	104	0.95701	.;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	852.98	38	chrX	55015725	.	C	T	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.405;DP=789;ExcessHet=0.0000;FS=7.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-1.669e+00;SOR=1.478	GT:AD:DP:GQ:PL	0/1:43,36:79:99:867,0,1044	20	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	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	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	0/1:143,517:660:99:14880,0,2305	0	6	15	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:152,439:591:99:12589,0,2712	0	1	20	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S	.	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.988	D	0.986	D	0.181	N	1.000	N	-0.08	N	1.06	T	-1.010	T	0.074	T	0.096	-0.199	3.032	0.436	0.049	0.532	2.954	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	12630.32	397	chrX	55146242	.	C	T	12630.32	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.806;DP=9077;ExcessHet=3.5521;FS=0.686;InbreedingCoeff=-0.2394;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=3.42;ReadPosRankSum=0.420;SOR=0.625	GT:AD:DP:GQ:PL	0/1:410,57:467:99:399,0,12938	13	0	8	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	0/1:161,250:411:99:6516,0,3989	0	1	20	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:119,199:318:99:6092,0,2701	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:228,48:276:99:629,0,7741	5	0	15	1
chrX	57592664	57592664	G	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.G616A:p.G206R,	.	.	432	1055	35	0	0	35	0.016317	.	.	3351554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.001	B	0.001	B	0.012	N	1.000	N	0.205	N	2.81	T	-0.949	T	0.012	T	0.133	-2.655	0	1.78	0.520	-0.287	4.304	0.014	0.00644329845832	.	.	0.0014	0.0004	0.0013	0.0024	0.0011	0.0014	0.0062	0.0020	0.0001921	5	26028	rs747364155	0.0006	0.0018	0.0006	0.0006	0.0015	0.0006	0.0006	0.0011	0.0010	0.0004	0.0015	0.0046	0.0011	0.0002	0.0015	0.0005	0.0008	0.0011	0.0004	0.0017	0.0004	0.0004	0.0022	0.0003	0.0003	0.0010	0.0007	9.791e-05	0.0015	0	0.0037	0.0022	0.0003	0	0.0004	0.0007	0	0.47	0.08483	T	0.187	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.011697	0.29437	N	0.160870	1	0.08975	N	0.69	0.16971	N	2.81	0.10975	T	-0.91	0.24460	N	0.028	0.00618	-0.9489	0.41160	T	0.012	0.04700	T	10	0.012963623	0.00276	T	0.006443	0.16956	T	0.014	0.01968	0.256	0.19689	0.043077524339	0.03247	0.18998404845993977	0.18916	1.24468813859	0.81636	0.759609699249	0.75871	T	0.028547	0.20653	T	-0.531361	0.00377	T	-1.00104	0.00137	T	0.00039367558201775	0.00003	T	0.377662	0.09049	T	0.067176715	0.14523	0.076588094	0.16976	0.067176715	0.14523	0.076588094	0.16976	-5.085	0.37748	T	.	.	0.108	0.20430	B	.	.	0.033570	0.04519	1.218	0.79293539811230451	0.12676	0.03073	0.07985	N	ALL	.	.	.	.	.	.	.	.	.	0.999999745769581	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.65	1.78	0.23918	-0.187000	0.09652	-1.834000	0.04642	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3435:0.0:0.6565:0.0	4.304	0.10382	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	0.02381	144.98	50	chrX	57592664	.	G	A	144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.62;DP=1050;ExcessHet=0.0000;FS=20.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.79;MQRankSum=-6.986e+00;QD=1.28;ReadPosRankSum=-3.813e+00;SOR=4.073	GT:AD:DP:GQ:PL	0/1:101,12:113:99:159,0,2823	20	0	1	0
chrX	69505338	69505338	-	CTG	exonic	FAM155B	.	nonframeshift insertion	FAM155B:NM_015686:exon1:c.56_57insCTG:p.C24_W25insC,	.	.	412	1026	81	1	2	85	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1287.01	86	chrX	69505335	.	TCTG	T,TCTGCTG	1287.01	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=8.000e-03;DP=1050;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.1975;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=2.52;ReadPosRankSum=-1.560e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:76,7,0:83:65:65,0,3153,294,3175,3469	14	0	6	0
chrX	70258561	70258561	C	T	exonic	P2RY4	.	nonsynonymous SNV	P2RY4:NM_002565:exon1:c.G1064A:p.S355N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.002	B	0.229	U	1.000	N	0	N	-0.63	T	-1.040	T	0.127	T	0.085	1.883	12.25	2.83	2.169	0.292	6.577	0.115	0.0171567670902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.08115	T	0.711	0.05506	T	0.0	0.02946	B	0.002	0.06944	B	0.229486	0.15952	U	0.506738	1	0.08975	N	0	0.06538	N	-0.63	0.72011	T	-0.21	0.10308	N	0.135	0.13198	-1.0403	0.17223	T	0.127	0.43339	T	10	0.06975949	0.10056	T	0.017157	0.38744	T	0.115	0.32236	0.164	0.06842	0.786709123045	0.78473	0.15014429427620998	0.14936	0.0818412678812	0.09219	0.279569625854	0.07432	T	0.072621	0.34499	T	-0.331644	0.05988	T	-0.71416	0.05084	T	0.0774389467893177	0.09656	T	0.334967	0.07125	T	0.07613244	0.17199	0.095476925	0.22645	0.07613244	0.17199	0.095476925	0.22644	-5.717	0.43845	T	.	.	0.112	0.21987	B	.	.	0.919012	0.12937	9.446	0.97723463556042411	0.35573	0.03388	0.08496	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.698283359999457	0.22666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7	2.83	0.32150	0.540000	0.22900	.	.	0.589000	0.31548	0.000000	0.06391	0.001000	0.17328	0.367000	0.26044	0.1813:0.7178:0.0:0.1008	6.577	0.21766	49	0.97662	.	.	.	.	.	.	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	0.02381	1249.98	35	chrX	70258561	.	C	T	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.425;DP=807;ExcessHet=0.0000;FS=1.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.49;SOR=0.846	GT:AD:DP:GQ:PL	0/1:70,50:120:99:1264,0,1882	20	0	1	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	.	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.0	B	0.264	N	0.950	D	1.545	L	3.03	T	-1.071	T	0.025	T	0.431	0.577	7.117	4.55	1.072	2.664	13.469	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	280.42	34	chrX	74591813	.	G	A	280.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.189e+00;DP=1340;ExcessHet=1.1607;FS=0.872;InbreedingCoeff=-0.1196;MLEAC=3;MLEAF=0.071;MQ=58.73;MQRankSum=-7.437e+00;QD=0.60;ReadPosRankSum=-3.262e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/1:99,17:116:99:132,0,3533	16	0	5	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	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	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,45:373:99:0|1:74591902_T_A:902,0,13617:74591902	8	0	13	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4: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	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.017	N	1.000	N	0.895	L	-1.6	D	-0.872	T	0.310	T	0.192	-1.096	0.146	4.1	1.077	-0.129	7.602	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	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1974.03	34	chrX	74591957	.	C	T	1974.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.777e+00;DP=2767;ExcessHet=1.7912;FS=2.136;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.08;MQRankSum=-1.348e+01;QD=1.28;ReadPosRankSum=-2.514e+00;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:393,30:423:77:0|1:74591902_T_A:77,0,16388:74591902	15	0	6	0
chrX	79171270	79171270	C	A	exonic	GPR174	.	nonsynonymous SNV	GPR174:NM_032553:exon3:c.C263A:p.P88H,	.	.	431	1072	8	11	0	30	0.0137994	.	.	3192389	GPR174-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.003	B	0.978	N	1.000	N	0.305	N	-0.62	T	-0.929	T	0.181	T	0.143	0.241	5.300	3.04	0.891	1.078	7.885	0.082	0.00898659524547	0.0014	0.0010596	0.0022	0.0007	0.0012	0	0.0005	0.0027	0	0.0046	0.0021992	340	154602	rs147721174	0.0029	0.0029	0.0029	0.0030	0.0065	0.0029	0.0028	0.0046	0.0040	0.0005	0.0018	0.0004	3.315e-05	0.0005	0.0065	0.0032	0.0028	0.0043	0.0019	0.0019	0.0020	0.0015	0.0031	0.0016	0.0016	0.0027	0.0025	0.0005	0	0.0016	0.0004	0	0.0003	0	0.0031	0.0013	0.0030	0.14	0.25664	T	0.141	0.33442	T	0.0	0.02946	B	0.003	0.08700	B	0.978483	0.08110	N	0.990227	1	0.08975	N	-0.29	0.03673	N	-0.62	0.71895	T	0.33	0.03889	N	0.057	0.02861	-0.9286	0.44342	T	0.181	0.52843	T	10	0.007401705	0.00168	T	0.008987	0.23678	T	0.082	0.23913	.	.	0.161926535498	0.15789	0.6680447524467892	0.66742	0.294491625161	0.31871	0.389591693878	0.23612	T	0.005212	0.04657	T	-0.580106	0.00192	T	-0.606203	0.12296	T	0.0021638483810557	0.00022	T	0.639636	0.25265	T	0.20237204	0.42280	0.16100536	0.37472	0.20237204	0.42280	0.16100536	0.37471	-3.426	0.15408	T	.	.	0.158	0.36928	B	.;.	.;.	0.990417	0.13686	10.22	0.87387625887651899	0.17191	0.02742	0.07419	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999065652146942	0.38343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.08	3.04	0.34171	1.121000	0.30897	0.159000	0.15383	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.979000	0.57723	0.398:0.4773:0.1247:0.0	7.885	0.28805	663	0.61610	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	4167.98	78	chrX	79171270	.	C	A	4167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=1601;ExcessHet=0.0000;FS=0.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.464;SOR=0.763	GT:AD:DP:GQ:PL	0/1:144,154:300:99:4182,0,3465	20	0	1	0
chrX	85108710	85108710	G	C	exonic	SATL1	.	nonsynonymous SNV	SATL1:NM_001012980:exon1:c.C259G:p.P87A	.	.	418	1079	19	6	0	31	0.0141617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	P	0.162	B	.	.	1.000	N	1.355	L	1.07	T	-1.058	T	0.039	T	0.112	-0.058	3.720	-5.03	-0.781	0.952	1.011	0.046	0.00450242559426	0.0047	0.0015894	0.0056	0.0003	0.0022	0	0.0016	0.0081	0.0080	0.0061	0.0040038	619	154602	rs141330942	0.0053	0.0052	0.0053	0.0051	0.0107	0.0051	0.0051	0.0082	0.0073	0.0009	0.0019	0.0295	3.336e-05	0.0009	0.0107	0.0054	0.0055	0.0039	0.0035	0.0035	0.0035	0.0035	0.0048	0.0032	0.0031	0.0044	0.0042	0.0004	0	0.0025	0.0283	0	0.0010	0.0093	0.0048	0.0026	0.0034	0.342	0.12632	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.07	0.39586	T	-3.86	0.72471	D	0.038	0.01203	-1.0576	0.12362	T	0.039	0.16720	T	8	0.004095465	0.00080	T	0.004502	0.11063	T	0.046	0.12618	.	.	0.239305524855	0.23518	0.16590832793118604	0.16510	0.247864250827	0.27341	0.195693701506	0.00342	T	.	.	.	-0.80291	0.00007	T	-0.924182	0.00358	T	0.0362402813275104	0.03023	T	0.478252	0.17252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03849	B	.;.;.;.	.;.;.;.	-0.372480	0.02317	0.247	0.25182517694932277	0.01149	0.07519	0.13533	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999955647072135	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.81	-5.03	0.02751	-0.700000	0.05183	-13.444000	0.00458	-0.941000	0.02090	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3:0.1614:0.3765:0.1621	1.011	0.01403	889	0.27310	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3863.98	37	chrX	85108710	.	G	C	3863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.22;DP=1085;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-4.230e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:164,138:302:99:3878,0,4430	20	0	1	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S,	.	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.473	P	0.19	B	.	.	1.000	N	0.85	L	.	.	-1.044	T	0.038	T	0.103	0.978	8.993	0.013	-0.145	0.534	2.812	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2557.98	42	chrX	107981733	.	G	C	2557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=947;ExcessHet=0.0000;FS=1.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.694e+00;SOR=0.606	GT:AD:DP:GQ:PL	0/1:121,102:223:99:2572,0,3129	20	0	1	0
chrX	108597067	108597067	C	A	exonic	COL4A5	.	nonsynonymous SNV	COL4A5:NM_000495:exon23:c.C1586A:p.P529Q,	Alport syndrome, X-linked dominant	YES	.	.	.	.	.	.	.	0.0026	0.076	1159280	not_provided|X-linked_Alport_syndrome	MedGen:C3661900|MONDO:MONDO:0010520,MedGen:C4746986,OMIM:301050,Orphanet:63,Orphanet:88917	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.14	T	0.739	P	0.459	P	0.004	N	1.000	D	1.115	L	-3.03	D	0.430	D	0.696	D	0.496	1.515	11.02	4.89	1.994	1.263	17.246	0.533	0.143737840127	.	.	9.367e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs758983710	4.18e-05	4.189e-05	2.059e-05	8.617e-05	0.0008	3.186e-05	2.844e-05	0.0006	0.0005	0	0	0	0	0	0	0	6.637e-05	0.0008	9.014e-06	8.721e-06	1.287e-05	0	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.274	0.18246	T	0.05	0.48080	T	0.739	0.42933	P	0.459	0.46380	P	0.004278	0.33923	N	0.283481	0.999884	0.50402	D	1.915	0.51223	L	-3.03	0.92307	D	-2.74	0.58248	D	0.111	0.19190	0.430	0.89539	D	0.696	0.89506	D	10	0.28137165	0.45714	T	0.143738	0.82604	D	0.533	0.80367	0.569	0.69167	0.77710244213	0.77505	0.25295174549652055	0.25209	0.278847348967	0.30363	0.323997169733	0.14027	T	0.820674	0.95612	D	-0.16873	0.25426	T	-0.119352	0.61857	T	0.210765333415545	0.20993	T	0.890111	0.67274	D	0.21863261	0.44376	0.2853957	0.54542	0.21863261	0.44376	0.2853957	0.54541	-6.244	0.48730	T	0.2241154729131657	0.30262	0.072	0.10014	B	.;.;.	.;.;.	1.816667	0.23087	15.88	0.90535169116662362	0.19791	0.76408	0.37471	D	AEFBI	.	.	.	.	.	.	.	.	.	0.994946986508792	0.33875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.89	4.89	0.63387	1.339000	0.33489	2.885000	0.35353	0.599000	0.40250	0.057000	0.21666	0.996000	0.32793	0.899000	0.43558	0.0:1.0:0.0:0.0	17.246	0.86911	235	0.90838	.;.;.	.	.	.	.	.	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	0.02381	1804.98	33	chrX	108597067	.	C	A	1804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.999;DP=830;ExcessHet=0.0000;FS=1.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-1.084e+00;SOR=0.840	GT:AD:DP:GQ:PL	0/1:58,71:129:99:1819,0,1307	20	0	1	0
chrX	109465204	109465204	A	G	exonic	GUCY2F	.	nonsynonymous SNV	GUCY2F:NM_001522:exon3:c.T970C:p.Y324H,	.	.	438	1073	6	5	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.368	B	0.201	B	0.000	D	0.998	D	1.73	L	-1.76	D	-0.191	T	0.441	T	0.303	1.286	10.21	4.18	1.852	1.658	10.547	0.365	0.0853084875989	0.0009	0.0018543	0.0017	0.0002	0.0003	0	0	0.0013	0.0016	0.0083	0.0017658	273	154602	rs73248160	0.0018	0.0018	0.0017	0.0022	0.0101	0.0018	0.0017	0.0094	0.0091	7.586e-05	0.0004	5.163e-05	0	4.934e-05	0.0041	0.0016	0.0015	0.0101	0.0010	0.0010	0.0010	0.0011	0.0112	0.0009	0.0008	0.0080	0.0070	0.0002	0	0.0004	0	0	0	0	0.0014	0.0007	0.0112	0.256	0.16793	T	0.245	0.24054	T	0.368	0.34048	B	0.201	0.36881	B	0.000003	0.62929	D	0.062165	0.997681	0.44098	D	1.545	0.39105	L	-1.76	0.83578	D	-1.92	0.44657	N	0.191	0.20925	-0.1905	0.77915	T	0.441	0.77903	T	10	0.0073500574	0.00167	T	0.085308	0.74506	D	0.365	0.68495	.	.	0.684160453752	0.68146	0.756099335759661	0.75557	0.153896172561	0.17371	0.458259791136	0.33071	T	0.238752	0.60672	T	-0.384429	0.02920	T	-0.318017	0.42791	T	0.0235812666470097	0.01093	T	0.779122	0.41282	T	0.4113793	0.61512	0.31480473	0.57470	0.4113793	0.61513	0.31480473	0.57469	-6.232	0.48181	T	.	.	0.095	0.14797	B	.	.	2.288760	0.29275	18.07	0.98178932688111042	0.38925	0.89624	0.50208	D	AEFBI	.	.	.	.	.	.	.	.	.	0.302508611197394	0.19203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.18	4.18	0.48473	1.940000	0.39851	4.910000	0.45943	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	10.547	0.44253	151	0.94052	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	10661.66	34	chrX	109465204	.	A	G	10661.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.89;DP=1206;ExcessHet=0.0000;FS=1.194;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.97;ReadPosRankSum=0.519;SOR=0.568	GT:AD:DP:GQ:PL	0/1:169,169:338:99:4380,0,4151	19	1	1	0
chrX	120379482	120379482	A	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon8:c.A922T:p.T308S	.	.	430	1034	30	28	0	86	0.0399257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.711	P	0.41	B	0.000	D	1.000	D	0.49	N	1.56	T	-1.091	T	0.060	T	0.166	2.429	14.08	5.72	1.911	4.079	14.033	0.094	.	0.0014	0.00529801	0.0038	0.0005	0.0005	0	0.0022	0.0024	0.0082	0.0223	0.0036804	569	154602	rs138577504	0.0023	0.0023	0.0018	0.0032	0.0288	0.0022	0.0022	0.0245	0.0230	0.0002	0.0008	0.0005	3.334e-05	0.0015	0.0288	0.0013	0.0036	0.0195	0.0018	0.0019	0.0016	0.0024	0.0190	0.0016	0.0015	0.0148	0.0133	0.0001	0.0044	0.0019	0.0004	0.0006	0.0011	0.0327	0.0019	0.0033	0.0190	0.208	0.19782	T	0.2	0.27591	T	0.711	0.42090	P	0.41	0.44785	B	0.000000	0.84330	D	0.047345	0.999845	0.49770	D	0.995	0.25082	L	1.56	0.29602	T	-1.65	0.39692	N	0.067	0.07398	-1.0910	0.05367	T	0.060	0.24981	T	10	0.009136409	0.00206	T	.	.	.	0.094	0.27141	.	.	0.516770950016	0.51320	0.7401097463312105	0.73955	0.433384082707	0.43495	0.614305377007	0.54924	T	0.016557	0.13660	T	-0.654293	0.00068	T	-0.697686	0.05953	T	0.0296468893722377	0.01935	T	0.79512	0.43772	T	0.40518048	0.61089	0.34659722	0.60326	0.40518048	0.61090	0.34659722	0.60325	-5.61	0.43210	T	.	.	0.194	0.52177	B	.;.;.	.;.;.	2.149820	0.27382	17.44	0.99072733689664194	0.51762	0.84846	0.43938	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999872186014163	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	5.72	0.89380	4.136000	0.57766	11.011000	0.84858	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	1.0:0.0:0.0:0.0	14.033	0.64149	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	1578.66	33	chrX	120379482	.	A	T	1578.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.075;DP=656;ExcessHet=0.0000;FS=4.401;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.93;ReadPosRankSum=1.35;SOR=0.244	GT:AD:DP:GQ:PL	0/1:19,35:54:99:1032,0,555	19	1	1	0
chrX	129751771	129751771	A	T	exonic	XPNPEP2	.	nonsynonymous SNV	XPNPEP2:NM_003399:exon9:c.A766T:p.I256F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.959	D	0.000	D	1.000	D	3.635	H	0.96	T	-0.115	T	0.348	T	0.804	4.120	21.2	5.43	1.814	6.453	12.317	0.487	0.433259068805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268157835	2.733e-06	2.732e-06	2.722e-06	2.754e-06	3.564e-06	7.3e-07	2e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.564e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.959	0.70163	D	0.000000	0.84330	D	0.046996	0.999965	0.52935	D	3.485	0.92608	M	0.96	0.42888	T	-3.92	0.73151	D	0.89	0.88909	-0.1145	0.79763	T	0.348	0.71218	T	10	0.8972866	0.89084	D	0.433259	0.94023	D	0.487	0.77528	0.701	0.83777	0.458917189328	0.45515	0.9300619561594711	0.92985	0.419145018288	0.42472	0.721583008766	0.70277	T	0.164299	0.50971	T	0.136262	0.67966	D	-0.0420459	0.67563	D	0.968985112604099	0.68431	D	0.925307	0.72522	D	0.95001954	0.96268	0.9081859	0.95559	0.95001954	0.96268	0.9081859	0.95560	-11.498	0.82319	D	.	.	0.344	0.56171	A	.	.	3.900581	0.56818	23.8	0.98943594463359585	0.48997	0.97041	0.72348	D	AEFDI	.	.	.	.	.	.	.	.	.	0.999795599568852	0.43153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.43	5.43	0.79006	6.587000	0.73960	6.145000	0.54110	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	1.0:0.0:0.0:0.0	12.317	0.54286	148	0.94114	.	.	.	.	.	.	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	0.02381	1972.98	40	chrX	129751771	.	A	T	1972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=883;ExcessHet=0.0000;FS=1.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-7.490e-01;SOR=0.901	GT:AD:DP:GQ:PL	0/1:86,78:164:99:1987,0,2136	20	0	1	0
chrX	131278044	131278044	C	G	exonic	IGSF1	.	nonsynonymous SNV	IGSF1:NM_001170962:exon12:c.G2105C:p.G702A	Hypothyroidism, central, and testicular enlargement, X-linked recessive	.	10	1509	3	0	0	3	0.000993049	.	.	1196303	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	no_assertion_criteria_provided	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.73	T	0.716	P	0.384	B	0.101	N	0.981	P	1.605	L	2.72	T	-1.035	T	0.001	T	0.097	-0.007	3.976	-0.287	-0.341	0.311	4.672	0.085	.	0.0022	0.0323179	0.0150	0.0036	0.0011	0.1764	0.0007	0.0013	0.0063	0.0037	0.0128524	1987	154602	rs146715796	0.0061	0.0061	0.0063	0.0059	0.1465	0.0060	0.0060	0.1429	0.1414	0.0019	0.0009	0.0008	0.1465	0.0005	0.0015	0.0018	0.0099	0.0040	0.0066	0.0069	0.0067	0.0065	0.1399	0.0062	0.0061	0.1297	0.1256	0.0035	0	0.0011	0	0.1399	0.0002	0	0.0018	0.0079	0.0080	0.135	0.26409	T	0.132	0.34716	T	0.089	0.42206	B	0.047	0.43970	B	0.101208	0.02549	N	1.782880	0.999992	0.20638	P	0.805	0.20218	L	2.72	0.11947	T	-1.23	0.31170	N	0.089	0.09490	-1.0349	0.18888	T	0.001	0.00378	T	9	0.0016301274	0.00019	T	.	.	.	0.085	0.24743	.	.	.	.	0.21282559510905735	0.21198	0.316542733125	0.33910	0.35345223546	0.18430	T	0.025516	0.19064	T	-0.919269	0.00000	T	-0.949422	0.00264	T	0.000310890644523598	0.00003	T	0.787921	0.42712	T	0.07540579	0.16985	0.087864995	0.20451	0.07554993	0.17028	0.087864995	0.20450	-7.649	0.58652	D	.	.	0.094	0.14842	B	.;.;.;.	.;.;.;.	0.666501	0.10347	7.077	0.8783984342710347	0.17520	0.33800	0.24915	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998403719745011	0.36906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	-0.287	0.12222	0.365000	0.20076	0.792000	0.21577	0.599000	0.40250	0.059000	0.21734	0.357000	0.24501	0.545000	0.30055	0.0:0.4382:0.1537:0.4081	4.672	0.12077	61	0.97388	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1548.98	41	chrX	131278044	.	C	G	1548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=851;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=-3.870e-01;SOR=0.799	GT:AD:DP:GQ:PL	0/1:92,62:154:99:1563,0,2501	20	0	1	0
chrX	131544966	131544966	G	A	exonic	OR13H1	.	nonsynonymous SNV	OR13H1:NM_001004486:exon1:c.G893A:p.R298Q,	.	.	432	1089	0	1	0	2	0.000917431	.	.	706104	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.071	B	0.02	B	0.113	U	1.000	N	0.335	N	1.15	T	-1.043	T	0.032	T	0.156	0.828	8.337	2.97	0.392	0.193	3.356	0.036	.	0.0015	0.00450331	0.0059	0.0005	0.0338	0.0167	0.0002	0.0012	0.0017	0.0010	0.0045989	711	154602	rs57328754	0.0027	0.0027	0.0028	0.0024	0.0290	0.0026	0.0026	0.0275	0.0269	0.0002	0.0290	0.0006	0.0093	0.0005	0.0010	0.0017	0.0025	0.0019	0.0025	0.0025	0.0025	0.0025	0.0164	0.0022	0.0021	0.0130	0.0118	0.0002	0	0.0113	0.0004	0.0164	0.0003	0	0.0015	0.0033	0.0011	0.254	0.16903	T	0.105	0.38016	T	0.071	0.23930	B	0.02	0.19048	B	0.112602	0.19350	U	0.369652	1	0.08975	N	0.22	0.09567	N	1.15	0.38236	T	0.32	0.03955	N	0.062	0.03392	-1.0431	0.16383	T	0.032	0.13635	T	10	0.0031189024	0.00052	T	.	.	.	0.036	0.09122	.	.	0.625611624611	0.62256	0.05160876942779672	0.05102	0.0213590030515	0.02119	0.185172438622	0.00151	T	0.001146	0.00651	T	-0.741415	0.00020	T	-0.81477	0.01561	T	0.00424520009113609	0.00045	T	0.0642936	0.00470	T	0.06876672	0.15009	0.09726598	0.23144	0.06876672	0.15009	0.09726598	0.23143	-3.139	0.11750	T	.	.	0.088	0.11654	B	.	.	1.185942	0.15766	12.09	0.9824939882935777	0.39558	0.02316	0.06643	N	AEFBI	.	.	.	.	.	.	.	.	.	2.46793128973697E-4	0.06141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.87	2.97	0.33479	-0.732000	0.05008	0.490000	0.18893	-0.715000	0.03906	0.000000	0.06391	0.001000	0.17328	0.765000	0.36330	0.2386:0.0:0.5639:0.1975	3.356	0.06751	29	0.98227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1805.98	49	chrX	131544966	.	G	A	1805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.17;DP=935;ExcessHet=0.0000;FS=3.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-7.510e-01;SOR=1.050	GT:AD:DP:GQ:PL	0/1:82,69:151:99:1820,0,1968	20	0	1	0
chrX	132669134	132669134	C	T	exonic	HS6ST2	.	nonsynonymous SNV	HS6ST2:NM_001077188:exon5:c.G1046A:p.R349Q,	.	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.016	B	0.004	B	0.411	U	1.000	D	0.69	N	-0.58	T	-0.900	T	0.226	T	0.085	4.052	20.8	2.31	0.508	1.013	5.732	0.093	0.0192522507933	0.0003	0.0010596	0.0014	0	0.0018	0	0	0.0014	0.0017	0.0044	0.0012031	186	154602	rs201239951	0.0009	0.0009	0.0008	0.0011	0.0039	0.0008	0.0008	0.0031	0.0029	0.0002	0.0015	0.0170	3.323e-05	4.94e-05	0.0039	0.0004	0.0017	0.0035	0.0008	0.0008	0.0007	0.0011	0.0031	0.0007	0.0006	0.0015	0.0011	9.776e-05	0	0.0015	0.0155	0	0	0	0.0004	0.0013	0.0031	0.007	0.59928	D	0.064	0.44905	T	.	.	.	.	.	.	0.410568	0.13002	U	0.423768	1	0.81001	D	.	.	.	-0.58	0.71425	T	-0.69	0.19720	N	0.14	0.13911	-0.9002	0.47973	T	0.226	0.59032	T	10	0.006667018	0.00151	T	0.019252	0.41561	T	0.093	0.26882	.	.	0.652731858869	0.64984	0.5304026432894727	0.52964	0.711249349536	0.61720	0.302379369736	0.10756	T	.	.	.	-0.575706	0.00205	T	-0.603416	0.12526	T	0.037962485685805	0.03325	T	0.59564	0.22108	T	.	.	.	.	.	.	.	.	-2.991	0.10084	T	.	.	0.103	0.18247	B	.;.;.	.;.;.	2.947622	0.39208	20.9	0.9993386130405435	0.99535	0.54775	0.29698	D	AEFBI	.	.	.	.	.	.	.	.	.	0.84818917095557	0.24993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.09	2.31	0.27816	1.021000	0.29642	0.502000	0.19004	0.599000	0.40250	1.000000	0.71638	0.915000	0.28207	0.996000	0.76049	0.0:0.7504:0.0:0.2496	5.732	0.17314	498	0.76166	.;.;.	.	.	.	.	.	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	0.02381	998.98	33	chrX	132669134	.	C	T	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-02;DP=801;ExcessHet=0.0000;FS=3.376;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.12;ReadPosRankSum=-2.000e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/1:75,48:123:99:1013,0,1767	20	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:57,31:92:85:85,0,673	5	0	16	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:184,171,0:355:99:.:.:4189,0,4507,4739,5017,9756	4	11	2	2
chrX	148962804	148962804	G	A	exonic	AFF2	.	nonsynonymous SNV	AFF2:NM_001170628:exon10:c.G1703A:p.R568H	Mental retardation, X-linked, FRAXE type, X-linked recessive	.	7	1488	19	8	0	35	0.011624	.	.	191365	not_specified|FRAXE|not_provided|AFF2-related_disorder	MedGen:CN169374|MONDO:MONDO:0010659,MedGen:C0751157,OMIM:309548,Orphanet:100973|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.002	N	1.000	D	2.015	M	-0.1	T	-0.183	T	0.434	T	0.838	4.786	26.9	5.87	2.618	3.552	18.241	0.290	0.788945586857	0.0006	0.000794702	0.0015	0.0001	0.0007	0	0	0.0015	0.0080	0.0051	0.0013777	213	154602	rs140927355	0.0010	0.0010	0.0009	0.0013	0.0054	0.0010	0.0010	0.0049	0.0047	0.0004	0.0006	0.0171	3.313e-05	0	0.0022	0.0004	0.0018	0.0054	0.0008	0.0008	0.0008	0.0008	0.0034	0.0007	0.0006	0.0018	0.0013	3.244e-05	0	0.0003	0.0170	0	0	0	0.0006	0.0013	0.0034	0.003	0.72154	D	0.228	0.35840	T	1.0	0.90584	D	0.999	0.92359	D	0.001805	0.37945	N	0.251509	0.999985	0.54805	D	2.14	0.59869	M	-0.1	0.64264	T	0.13	0.05503	N	0.059	0.31925	-0.1835	0.78092	T	0.434	0.77452	T	10	0.0070457757	0.00160	T	0.788946	0.98342	D	0.290	0.60924	.	.	0.931681299323	0.93097	0.3173714879489815	0.31650	0.646509102496	0.58061	0.417903870344	0.27549	T	0.406954	0.76270	T	-0.0729265	0.40859	T	0.123148	0.78444	D	0.0418868720804479	0.04033	T	0.868913	0.57225	D	0.18802847	0.40283	0.18903407	0.42227	0.15770656	0.35520	0.20170383	0.44162	-3.437	0.18466	T	.	.	0.115	0.32565	B	.;.;.;.	.;.;.;.	3.581396	0.50496	23.0	0.99937657744518793	0.99661	0.93683	0.58894	D	AEFGI	.	.	.	.	.	.	.	.	.	0.99999999828898	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.87	5.87	0.94266	3.614000	0.53901	4.259000	0.42796	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.241	0.89904	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1284.98	33	chrX	148962804	.	G	A	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.341;DP=826;ExcessHet=0.0000;FS=5.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-3.440e-01;SOR=1.161	GT:AD:DP:GQ:PL	0/1:76,58:134:99:1299,0,1757	20	0	1	0
chrX	153073262	153073262	T	G	exonic	PNMA6A	.	nonsynonymous SNV	PNMA6A:NM_032882:exon2:c.T200G:p.V67G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	2.37	T	-1.031	T	0.044	T	0.397	2.490	14.29	1.99	1.077	0.503	5.511	0.025	0.0369201328504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.725e-05	0.0002	5.377e-05	0	8.781e-05	1.997e-05	1.559e-05	2.054e-05	1.391e-05	8.781e-05	8.319e-05	0	0	0	0	4.466e-05	5.765e-05	0	0	3.293e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.33	0.16492	T	-6.52	0.91695	D	0.504	0.53620	-1.0739	0.08577	T	0.085	0.33269	T	8	0.5577507	0.64614	D	0.355273	0.92373	D	0.234	0.53644	0.66	0.79791	0.154104182512	0.14974	0.44074457449472765	0.43991	.	.	0.797610878944	0.81599	T	0.07346	0.34703	T	-0.0376367	0.46298	T	-0.291839	0.45580	T	0.879471444823567	0.52944	D	0.262774	0.04248	T	0.09392669	0.22070	0.15312491	0.35995	0.09392669	0.22070	0.15312491	0.35994	-10.718	0.78089	D	.	.	0.519	0.65421	A	.	.	2.561390	0.33175	19.26	0.9900846234778935	0.50314	0.00385	0.01942	N	AEFI	.	.	.	.	.	.	.	.	.	1.28807437351111E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14	1.14	0.19817	-0.168000	0.09914	.	.	0.467000	0.21759	0.000000	0.06391	0.041000	0.21590	0.110000	0.18741	0.0:0.0:0.0:1.0	4.200	0.09923	77	0.96778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1154	49.97	6	chrX	153073262	.	T	G	49.97	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-5.570e-01;DP=168;ExcessHet=0.5115;FS=0.000;InbreedingCoeff=-0.1923;MLEAC=4;MLEAF=0.154;MQ=27.00;MQRankSum=0.00;QD=5.00;ReadPosRankSum=0.00;SOR=0.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,1:5:14:0|1:153073262_T_G:14,0,137:153073262	10	0	3	8
chrX	153775089	153775089	C	T	exonic	PLXNB3	.	nonsynonymous SNV	PLXNB3:NM_005393:exon24:c.C4141T:p.L1381F	.	.	430	1085	3	4	0	11	0.00504356	.	.	2824296	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.999	D	0.993	D	0.000	D	1.000	D	2.39	M	2.24	T	-1.024	T	0.106	T	0.39	2.251	13.48	4.84	1.971	2.554	12.221	0.190	0.0413069770604	.	0.0013245	0.0005	0	0	0	0	5.824e-05	0	0.0053	0.0005175	80	154602	rs782389181	0.0004	0.0004	0.0003	0.0005	0.0033	0.0003	0.0003	0.0029	0.0027	3.812e-05	5.865e-05	0	6.654e-05	0	0.0010	0.0002	0.0004	0.0033	0.0002	0.0002	0.0002	0.0003	0.0039	0.0001	0.0001	0.0022	0.0017	0	0	9.195e-05	0	0	0	0	0.0002	0.0006	0.0039	0.076	0.50676	T	0.037	0.51737	D	0.999	0.77913	D	0.993	0.81110	D	0.000004	0.62929	D	0.063289	0.99925	0.81001	D	2.125	0.59049	M	2.24	0.17923	T	-2.67	0.57110	D	0.434	0.47949	-1.0240	0.22410	T	0.106	0.38636	T	10	0.009679943	0.00218	T	0.041307	0.59855	D	0.190	0.46781	.	.	0.43965937752	0.43585	0.2408745345011648	0.24001	.	.	0.603324532509	0.53373	T	0.135046	0.46664	T	-0.532008	0.00374	T	-0.537114	0.18581	T	0.169733807490269	0.18562	T	0.855714	0.54342	D	0.6231251	0.73930	0.43017003	0.66676	0.6231251	0.73932	0.43017003	0.66676	-10.653	0.77721	D	.	.	0.127	0.28145	B	.;.	.;.	3.763768	0.54020	23.4	0.99554709022589361	0.71397	0.93440	0.58222	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999362221795	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.84	4.84	0.62125	2.617000	0.46049	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8311:0.1689:0.0	12.221	0.53745	56	0.97520	.;Plexin, cytoplasmic RasGAP 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	0.02381	1904.98	60	chrX	153775089	.	C	T	1904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.767;DP=1049;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.085;SOR=0.654	GT:AD:DP:GQ:PL	0/1:76,65:141:99:1919,0,2075	20	0	1	0
chrX	154556314	154556314	G	A	exonic	IKBKG	.	nonsynonymous SNV	IKBKG:NM_001099856:exon3:c.G541A:p.D181N	Ectodermal dysplasia, hypohidrotic, with immune deficiency;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency;Immunodeficiency 33, X-linked recessive;Immunodeficiency, isolated;Incontinentia pigmenti, X-linked dominant;Invasive pneumococcal disease, recurrent isolated, 2	.	284	1211	26	1	0	28	0.0114286	.	.	79126	Immunodeficiency_33|not_provided|Ectodermal_dysplasia_and_immunodeficiency_1	MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612|MedGen:C3661900|MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.959	D	0.501	P	0.349	N	1.000	N	1.5	L	-0.75	T	0.204	D	0.789	D	0.049	1.516	11.02	4.4	1.929	2.388	11.865	0.189	0.224673559886	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs179363896	0.0086	0.0072	0.0130	0.0002	0.0098	0.0084	0.0083	0.0094	0.0093	0.0009	0.0027	0.0057	0	0.0175	0.0068	0.0098	0.0102	0.0065	0.0071	0.0069	0.0086	0.0003	0.0110	0.0067	0.0065	0.0102	0.0099	0.0018	0	0.0029	0.0069	0	0.0118	0.0057	0.0110	0.0070	0.0053	0.051	0.39334	T	0.1	0.66756	T	0.959	0.55135	D	0.501	0.47677	P	0.348836	0.13848	N	0.711988	0.99991	0.19781	N	1.245	0.31408	L	-1.65	0.95145	D	-1.33	0.36385	N	0.268	0.67304	0.204	0.85974	D	0.789	0.92861	D	10	0.006111324	0.00137	T	0.224674	0.87961	D	0.189	0.46613	0.188	0.09776	0.887711601573	0.88661	0.2985456713466058	0.29767	.	.	0.304108560085	0.11016	T	0.029732	0.70431	T	-0.467963	0.00875	T	-0.430693	0.29857	T	0.00792731663657177	0.00093	T	0.759324	0.40277	T	0.062621504	0.13099	0.12752393	0.30696	0.05325337	0.10051	0.15068215	0.35525	-5.747	0.44110	T	0.16878907404782587	0.21126	0.106	0.47848	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.886100	0.23959	16.22	0.99598339821547865	0.74042	0.28121	0.23466	N	AEFGI	.	.	.	.	.	.	.	.	.	0.998316003727758	0.36741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4	4.4	0.52402	1.686000	0.37287	4.926000	0.46086	-0.749000	0.03603	0.071000	0.22100	1.000000	0.68203	0.776000	0.36750	0.0:0.0:1.0:0.0	11.865	0.51766	80	0.96670	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.05263	133.36	9	chrX	154556314	.	G	A	133.36	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.35;DP=148;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0907;MLEAC=2;MLEAF=0.053;MQ=27.00;MQRankSum=0.00;QD=5.80;ReadPosRankSum=0.319;SOR=0.200	GT:AD:DP:GQ:PL	0/1:6,2:8:39:39,0,167	17	0	2	2