Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES938	WT	HH	HZ	NC
chr1	945520	945520	C	T	exonic	NOC2L	.	nonsynonymous SNV	NOC2L:NM_015658:exon17:c.G2051A:p.R684K	.	411	1110	1	0	0	1	0.000450248	0.0004	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00577519495809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.07920	T	0.753	0.04754	T	0.029	0.19866	B	0.012	0.16012	B	0.000198	0.48115	N	0.177514	0.957087	0.26274	N	0.77	0.19370	N	2.06	0.20523	T	0.28	0.04233	N	0.083	0.05929	-0.9780	0.35458	T	0.024	0.10284	T	10	0.053874165	0.05648	T	0.005775	0.14982	T	0.034	0.08419	0.167	0.07186	0.357519025918	0.35359	0.0774515753278477	0.07681	.	.	0.277003854513	0.07078	T	0.01433	0.12223	T	-0.288393	0.09797	T	-0.652033	0.08813	T	0.0945254862308502	0.11743	T	0.316468	0.06291	T	0.024344916	0.01257	0.030680938	0.01555	0.024344916	0.01257	0.030680938	0.01555	-2.926	0.09406	T	.	.	0.066	0.02257	B	.	.	-0.217549	0.03003	0.454	0.91266389095463574	0.20525	0.41675	0.26710	N	AEFDGBHCI	0.067149	0.13186	N	-0.803408214239254	0.13223	0.6498914	-0.730774623738495	0.16196	0.8556208	0.999999983456006	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.07	0.647	0.16968	0.213000	0.17310	.	.	-0.193000	0.09282	0.888000	0.31154	0.000000	0.08366	0.058000	0.15825	0.0:0.2724:0.5077:0.2199	4.138	0.09647	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1599.43	34	chr1	945520	.	C	T	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.317;DP=460;ExcessHet=0;FS=2.056;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-1.114;SOR=0.873	GT:AD:DP:GQ:PL	0/1:75,71:146:99:1611,0,1789	9	0	1	0
chr1	1020239	1020239	G	C	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon1:c.G67C:p.V23L	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	14	1448	54	6	0	66	0.0222822	.	.	.	206690	not_specified|not_provided|Congenital_myasthenic_syndrome_8|AGRN-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	.	.	0.00878594	0.0348	0.0127	0.0641	0.0089	.	0.0123	0.0455	0.0432	0.0026067	403	154602	rs201073369	0.0071	0.0067	0.0062	0.0080	0.0319	0.0070	0.0069	0.0308	0.0303	0.0045	0.0019	0.0188	0.0010	0.0054	0.0164	0.0055	0.0088	0.0319	0.0067	0.0067	0.0066	0.0069	0.0311	0.0064	0.0062	0.0270	0.0255	0.0043	0	0.0031	0.0185	0.0048	0.0036	0.0034	0.0074	0.0086	0.0311	0.632	0.05121	T	0.192	0.28300	T	.	.	.	.	.	.	0.726910	0.09888	U	0.737577	1	0.08975	N	0.14	0.08730	N	-0.9	0.74896	T	-0.25	0.11008	N	0.053	0.02462	-0.9797	0.35071	T	0.184	0.53270	T	10	0.0018510222	0.00025	T	.	.	.	0.040	0.10527	.	.	.	.	0.18601286770968664	0.18519	0.422332236549	0.42733	0.913664937019	0.97804	D	.	.	.	-0.458053	0.01011	T	-0.40567	0.32724	T	0.00447011521354338	0.00048	T	0.49875	0.15541	T	.	.	.	.	.	.	.	.	-2.074	0.03474	T	.	.	0.079	0.07224	B	.	.	1.215538	0.16088	12.31	0.43474261126813984	0.03275	0.00656	0.02847	N	ALL	0.038155	0.05356	N	-1.10990126718945	0.06466	0.297743	-1.16109306244423	0.06570	0.316724	0.999999999973226	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	2.05	1.04	0.19220	0.455000	0.21555	0.558000	0.19484	0.458000	0.21545	0.002000	0.15269	0.988000	0.31051	0.789000	0.37270	0.142:0.0:0.858:0.0	7.971	0.29289	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016317	0.009259	0.009009	0.018519	0.000000	0.000000	0.000000	0.016393	0.1	455.14	36	chr1	1020239	.	G	C	455.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.602;DP=223;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.557;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,7:14:99:179,0,153	8	0	2	0
chr1	2198795	2198795	C	T	exonic	FAAP20	.	nonsynonymous SNV	FAAP20:NM_001282670:exon4:c.G194A:p.R65H	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00519169	0.0077	0.0018	0.0106	0	0.0417	0.0090	0.0154	0.0075	0.0023997	371	154602	rs142593122	0.0110	0.0086	0.0110	0.0109	0.0120	0.0108	0.0107	0.0118	0.0117	0.0019	0.0052	0.0089	0.0004	0.0033	0.0067	0.0120	0.0109	0.0072	0.0073	0.0073	0.0075	0.0070	0.0110	0.0069	0.0068	0.0104	0.0101	0.0022	0.0154	0.0081	0.0086	0	0.0029	0.0102	0.0110	0.0095	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1755.14	42	chr1	2198795	.	C	T	1755.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.593;DP=431;ExcessHet=0.2348;FS=2.311;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.182;SOR=0.488	GT:AD:DP:GQ:PL	0/1:31,36:67:99:960,0,799	8	0	2	0
chr1	10324813	10324813	A	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon24:c.A2455C:p.S819R,KIF1B:NM_001365951:exon26:c.A2593C:p.S865R,KIF1B:NM_001365952:exon26:c.A2593C:p.S865R	Pheochromocytoma, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	212065	not_specified|KIF1B-related_disorder|Charcot-Marie-Tooth_disease_type_2|Neuroblastoma|not_provided	MedGen:CN169374|.|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.203	0.0552539015225	0.0002	0.000199681	0.0005	0	8.637e-05	0	0	0.0003	0	0.0020	0.000401	62	154602	rs140015591	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0018	0.0017	5.974e-05	2.236e-05	0	0	0	0.0019	0.0001	0.0003	0.0020	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	0	0	6.539e-05	0	0	0	0	0.0002	0	0.0027	0.07	0.36113	T	0.231	0.26066	T	0.018	0.39346	B	0.005	0.33763	B	0.113296	0.19321	N	0.594135	1	0.08975	N	1.24	0.30952	L	-1.04	0.76561	T	-2.19	0.52451	N	0.388	0.42931	-0.5797	0.65629	T	0.347	0.71186	T	10	0.013733387	0.00290	T	0.055254	0.66166	D	0.203	0.48915	0.28	0.23483	0.358461578395	0.35455	0.32385600642809853	0.32298	0.480496331412	0.47068	0.340876281261	0.16569	T	0.21082	0.57142	T	-0.433936	0.01404	T	-0.41511	0.31636	T	0.0315681055838614	0.02238	T	0.937606	0.76517	D	0.06760196	0.14655	0.09778286	0.23289	0.09682651	0.22812	0.11483441	0.27720	-13.099	0.90549	D	.	.	0.283	0.54573	B	.;.;.;.;.	.;.;.;.;.	1.290857	0.16917	12.84	0.97799280949174983	0.36052	0.14046	0.18193	N	AEFDBI	0.126548	0.24354	N	-1.11769318026756	0.06328	0.291007	-1.19571223126447	0.05981	0.2865523	0.00432771497233626	0.10502	0.732398	0.92422	0	0.601575	0.49859	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.69	-2.96	0.05212	0.211000	0.17268	0.327000	0.17244	-0.566000	0.04804	0.000000	0.06391	0.000000	0.08366	0.475000	0.28453	0.3743:0.1118:0.5139:0.0	10.393	0.43367	230	0.91032	.;Kinesin-like KIF1-type;.;Kinesin-like KIF1-type;Kinesin-like KIF1-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	1	0	0.003024	0.000000	0.000000	0.000000	0.050000	0.008621	0.000000	0.011364	0.05	1174.43	34	chr1	10324813	.	A	C	1174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.408;DP=410;ExcessHet=0;FS=2.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.974;SOR=0.485	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1186,0,1121	9	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	5513.28	34	chr1	10326244	.	G	C	5513.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-6.793;DP=1395;ExcessHet=4.5998;FS=275.809;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.5;ReadPosRankSum=1.84;SOR=11.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,64:186:99:0|1:10326244_G_C:1296,0,4314:10326244	5	0	5	0
chr1	10948556	10948556	G	A	exonic	C1orf127	.	stopgain	C1orf127:NM_001366227:exon10:c.C1162T:p.R388X,C1orf127:NM_001170754:exon12:c.C1579T:p.R527X	.	416	1099	6	1	0	8	0.00362647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00119808	0.0011	9.634e-05	0.0003	0	0	0.0002	0.0011	0.0073	0.0009573	148	154602	rs146743970	0.0005	0.0005	0.0003	0.0008	0.0072	0.0005	0.0005	0.0067	0.0065	0	0.0001	0	2.519e-05	0	0.0003	8.093e-05	0.0004	0.0072	0.0003	0.0003	0.0002	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	2.405e-05	0	0.0003	0	0	0	0	2.94e-05	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	0.016122	0.01433	N	2.848190	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0298398	0.55701	T	0.273533	0.86767	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.701076	0.96777	36	0.98607864084398644	0.43598	0.13083	0.17653	N	AEFDBHCI	0.090047	0.18250	N	-0.0716543577450887	0.38640	2.26617	-0.440912045205142	0.23807	1.300269	0.0173810677814046	0.12943	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.07	0.378	0.15435	1.047000	0.29976	0.281000	0.16766	0.618000	0.50648	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.4841:0.3435:0.1724	7.099	0.24504	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1009.43	76	chr1	10948556	.	G	A	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=621;ExcessHet=0;FS=4.079;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.654;SOR=0.389	GT:AD:DP:GQ:PL	0/1:47,38:85:99:1021,0,1179	9	0	1	0
chr1	13345161	13345161	G	C	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon2:c.C154G:p.L52V	.	448	1050	24	0	0	24	0.0112994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00122823695766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4083405	0.0065	0.0097	0.0062	0.0068	0.0101	0.0064	0.0064	0.0096	0.0094	0.0017	0.0019	0.0034	0.0010	0.0209	0.0078	0.0061	0.0069	0.0101	0.0086	0.0090	0.0082	0.0091	0.0128	0.0083	0.0081	0.0114	0.0111	0.0023	0	0.0030	0.0055	0.0030	0.0226	0.0069	0.0121	0.0062	0.0128	0.027	0.46513	D	0.04	0.50809	D	.	.	.	.	.	.	0.003069	0.35480	N	0.187155	0.999829	0.20203	N	.	.	.	2.34	0.16351	T	-2.62	0.56301	D	0.314	0.35408	-1.1271	0.01926	T	0.085	0.33014	T	10	0.013097256	0.00279	T	0.002789	0.05810	T	0.060	0.17295	.	.	0.151262610727	0.14761	0.351644659497815	0.35078	3.38724322197	0.99691	.	.	.	.	.	.	-0.235238	0.15962	T	-0.575679	0.14933	T	0.56700986623764	0.35120	D	0.610839	0.23175	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25592	B	.	.	1.240337	0.16358	12.49	0.99596510723236842	0.73925	0.03915	0.09299	N	AEFI	0.037934	0.05291	N	-0.134736818385502	0.35886	2.06705	-0.392184949578586	0.25228	1.386172	4.36143937790654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	1.543000	0.35754	-1.448000	0.05416	0.478000	0.22058	0.023000	0.19925	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.888	0.23393	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	791.14	38	chr1	13345161	.	G	C	791.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.74;DP=370;ExcessHet=0.2348;FS=12.214;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=34.06;MQRankSum=-2.752;QD=8.33;ReadPosRankSum=1.74;SOR=2.276	GT:AD:DP:GQ:PL	0/1:22,21:43:99:532,0,568	8	0	2	0
chr1	13389787	13389787	T	G	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon1:c.T130G:p.S44A	.	424	1086	11	0	1	12	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00108201928901	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878978459	3.861e-05	0.0031	4.116e-05	3.604e-05	0.0002	3.05e-05	2.741e-05	8.897e-05	6.453e-05	0	0.0002	0	0	0	0.0002	3.81e-05	3.335e-05	3.49e-05	3.291e-05	0.0004	6.441e-05	0	6.554e-05	1.262e-05	7.99e-06	1.174e-05	6.26e-06	2.409e-05	0	6.554e-05	0	0	0	0	4.424e-05	0	0	0.015	0.52492	D	0.01	0.65728	D	0.002	0.09854	B	0.007	0.12992	B	0.014965	0.28378	N	0.352416	1	0.08975	N	0.345	0.11182	N	3.64	0.04309	T	0.05	0.06369	N	0.265	0.30004	-0.9651	0.38191	T	0.009	0.03183	T	10	0.2735368	0.44903	T	0.001143	0.01410	T	0.038	0.09825	0.786	0.90919	0.043077524339	0.03247	0.34463560231599055	0.34376	1.59320647565	0.88566	0.657632708549	0.61071	T	0.006265	0.05696	T	-0.278162	0.10863	T	-0.637337	0.09864	T	0.121334537863731	0.14559	T	0.394561	0.09893	T	0.11320514	0.26739	0.08482383	0.19541	0.11320514	0.26738	0.08482383	0.19541	-4.361	0.29023	T	.	.	0.087	0.11414	B	.	.	1.101370	0.14855	11.39	0.909885272771082	0.20238	0.00553	0.02530	N	AEFI	0.021247	0.00925	N	-1.02090303051333	0.08170	0.3821699	-1.10666643224229	0.07572	0.3688448	4.81103890285E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	1.09	0.19517	0.599000	0.23788	-1.771000	0.04756	0.493000	0.22426	0.010000	0.18352	0.000000	0.08366	0.024000	0.12247	0.0:0.0:0.0:1.0	4.427	0.10936	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	446.43	36	chr1	13389787	.	T	G	446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.854;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.39;MQRankSum=-11.05;QD=3.38;ReadPosRankSum=1.97;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,19:132:99:0|1:13389787_T_G:458,0,4609:13389787	9	0	1	0
chr1	13389788	13389788	C	T	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon1:c.C131T:p.S44F	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00139010948268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879250620	4.206e-05	0.0031	4.391e-05	4.019e-05	0.0002	3.337e-05	3.025e-05	8.898e-05	6.454e-05	0	0.0002	0	0	0	0	3.901e-05	5.002e-05	8.143e-05	5.269e-05	0.0004	9.021e-05	1.347e-05	0.0001	2.562e-05	1.834e-05	2.268e-05	1.128e-05	2.41e-05	0	0.0001	0	0	0	0	5.9e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.014965	0.28378	N	0.352416	1	0.08975	N	-3.265	0.00006	N	3.81	0.03754	T	7.05	0.00003	N	0.261	0.29544	-0.9337	0.43590	T	0.002	0.00585	T	10	0.12454003	0.23656	T	0.00139	0.02037	T	0.104	0.29647	0.766	0.89373	0.043077524339	0.03247	0.3694231751582216	0.36856	1.94698254813	0.93348	0.654295921326	0.60596	T	0.00516	0.04603	T	-0.346811	0.04930	T	-0.735947	0.04063	T	0.0700963822954792	0.08664	T	0.359964	0.08281	T	0.03438067	0.03846	0.04243111	0.05052	0.03438067	0.03846	0.04243111	0.05051	2.614	0.00030	T	.	.	0.040	0.00014	B	.	.	-0.668012	0.01396	0.081	0.1028743499578364	0.00126	0.00008	0.00134	N	AEFI	0.010690	0.00081	N	-1.89761845329633	0.00347	0.01490997	-1.82639125041871	0.00678	0.03017617	2.83126045677641E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-0.159	0.12724	0.606000	0.23891	-0.592000	0.08316	-0.320000	0.05874	0.008000	0.17931	0.000000	0.08366	0.012000	0.09680	0.0:0.2712:0.0:0.7288	3.235	0.06361	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	446.43	36	chr1	13389788	.	C	T	446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.413;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.27;MQRankSum=-11.05;QD=3.38;ReadPosRankSum=1.98;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,19:132:99:0|1:13389787_T_G:458,0,4609:13389787	9	0	1	0
chr1	13389835	13389835	C	T	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon1:c.C178T:p.P60S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.000519209070154	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs878905302	0.0002	0.0004	0.0002	0.0002	0.0041	0.0002	0.0002	0.0035	0.0033	0.0041	0.0008	0	5.038e-05	0	0.0013	0.0001	0.0003	0	0.0013	0.0014	0.0013	0.0014	0.0043	0.0012	0.0011	0.0038	0.0036	0.0043	0	0.0012	0	0	0	0	8.824e-05	0.0014	0	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999947	0.19238	N	3.73	0.94857	H	2.34	0.16351	T	-7.51	0.95074	D	0.442	0.48042	-1.0249	0.22116	T	0.134	0.44720	T	10	0.41863424	0.56712	T	0.001271	0.01733	T	0.156	0.40720	0.85	0.95202	0.196089822672	0.19227	0.6860648120516822	0.68546	3.31666214769	0.99594	0.552836596966	0.46258	T	0.378699	0.74161	T	-0.128758	0.31697	T	-0.422728	0.30764	T	0.599439978599548	0.36378	D	0.824917	0.48720	T	0.7443584	0.80543	0.44385314	0.67587	0.7443584	0.80544	0.44385314	0.67587	-7.92	0.60524	D	.	.	0.464	0.62874	A	.	.	2.373652	0.30458	18.44	0.99598825182559148	0.74101	0.13614	0.17955	N	AEFI	0.033352	0.03938	N	0.180650014561441	0.50270	3.218696	-0.123216797300957	0.34456	1.982199	5.5610729557629E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	1.09	0.19517	1.680000	0.37224	1.139000	0.24389	0.445000	0.21165	1.000000	0.71638	0.994000	0.32194	0.066000	0.16387	0.0:1.0:0.0:0.0	5.599	0.16625	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	223.43	36	chr1	13389835	.	C	T	223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.2;DP=438;ExcessHet=0;FS=2.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.58;MQRankSum=-11.01;QD=1.82;ReadPosRankSum=-1.434;SOR=1.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,14:123:99:0|1:13389835_C_T:235,0,4426:13389835	9	0	1	0
chr1	13389845	13389845	G	A	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon1:c.G188A:p.R63H	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00107702405104	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs879165544	0.0001	0.0002	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0010	0.0001	8.944e-05	0	0.0014	3.744e-05	0	9.715e-05	0.0001	4.64e-05	0.0001	0.0002	0.0001	0.0002	0.0014	9.159e-05	7.713e-05	0.0006	0.0005	7.246e-05	0	0.0002	0	0.0014	0	0	0.0001	0	0.0002	0.191	0.21066	T	0.544	0.09621	T	0.012	0.16265	B	0.004	0.10090	B	0.383110	0.04433	N	1.379330	1	0.08975	N	1.075	0.27130	L	0.86	0.46777	T	-2.14	0.48523	N	0.215	0.24010	-1.0496	0.14509	T	0.129	0.43848	T	10	0.12911937	0.24566	T	0.003043	0.06547	T	0.125	0.34456	0.534	0.64293	0.043077524339	0.03247	0.26275243924267794	0.26188	2.13410484638	0.95201	0.493344068527	0.37902	T	0.066734	0.33021	T	-0.258023	0.13132	T	-0.608409	0.12114	T	0.034310512450044	0.02691	T	0.0767923	0.00564	T	0.032324117	0.03236	0.037530858	0.03425	0.032324117	0.03235	0.037530858	0.03425	-3.49	0.16292	T	.	.	0.080	0.07889	B	.	.	0.585481	0.09539	6.316	0.26395503035690338	0.01262	0.00305	0.01619	N	AEFI	0.032876	0.03794	N	-1.20662437717423	0.04901	0.2222587	-1.38106114101122	0.03454	0.161143	5.12982806261287E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-1.88	0.07294	0.082000	0.14697	-5.402000	0.01732	-0.315000	0.05944	0.003000	0.16062	0.000000	0.08366	0.024000	0.12247	0.2528:0.0:0.4105:0.3366	1.831	0.02941	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	192.43	36	chr1	13389845	.	G	A	192.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.041;DP=435;ExcessHet=0;FS=1.137;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.74;MQRankSum=-10.88;QD=1.6;ReadPosRankSum=-1.696;SOR=1.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,13:120:99:0|1:13389835_C_T:204,0,4365:13389835	9	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T,CASP9:NM_001278054:exon2:c.G283A:p.A95T,CASP9:NM_032996:exon2:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	336.1	40	chr1	15518245	.	C	T	336.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.497;DP=1203;ExcessHet=4.5998;FS=175.279;InbreedingCoeff=-0.3998;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.57;SOR=10.685	GT:AD:DP:GQ:PL	0/1:121,38:159:99:128,0,2548	4	0	6	0
chr1	16017190	16017190	C	T	exonic	HSPB7	.	nonsynonymous SNV	HSPB7:NM_001349683:exon2:c.G229A:p.G77S,HSPB7:NM_001349686:exon2:c.G217A:p.G73S,HSPB7:NM_001349687:exon2:c.G217A:p.G73S,HSPB7:NM_001349688:exon2:c.G229A:p.G77S,HSPB7:NM_001349689:exon2:c.G232A:p.G78S,HSPB7:NM_014424:exon2:c.G217A:p.G73S,HSPB7:NM_001349682:exon3:c.G442A:p.G148S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.320755214526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.08996	T	0.026	0.56640	D	0.997	0.77913	D	0.921	0.69900	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	-2.87	0.94940	D	-0.41	0.24460	N	0.714	0.74918	0.417	0.89360	D	0.805	0.93421	D	10	0.73559964	0.74598	D	0.320755	0.91467	D	0.561	0.82003	0.321	0.30064	0.973220696517	0.97293	0.7218208348204903	0.72126	0.772346005941	0.64831	0.731583535671	0.71737	T	0.025069	0.18817	T	0.277774	0.81124	D	0.161226	0.80880	D	0.933558225631714	0.60039	D	0.940606	0.77652	D	0.1631685	0.36441	0.17315339	0.39622	0.1631685	0.36440	0.17315339	0.39621	-3.724	0.23218	T	.	.	0.134	0.50572	B	.;.;.;.;.;.	.;.;.;.;.;.	4.651717	0.74163	26.1	0.99682679654099771	0.79373	0.97366	0.74295	D	AEFDGBI	0.977624	0.99731	D	0.179185868575928	0.50201	3.212351	0.205753943730955	0.50167	3.211568	0.999999999999967	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	5.772000	0.68543	7.572000	0.60737	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.318000	0.24924	0.0:1.0:0.0:0.0	17.379	0.87290	439	0.80177	Alpha crystallin/Hsp20 domain|Heat shock protein beta-7, ACD domain;Alpha crystallin/Hsp20 domain|Heat shock protein beta-7, ACD domain;Alpha crystallin/Hsp20 domain|Heat shock protein beta-7, ACD domain;Alpha crystallin/Hsp20 domain|Heat shock protein beta-7, ACD domain;.;Alpha crystallin/Hsp20 domain|Heat shock protein beta-7, ACD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3398.43	33	chr1	16017190	.	C	T	3398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=537;ExcessHet=0;FS=3.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=1.32;SOR=0.992	GT:AD:DP:GQ:PL	0/1:93,121:214:99:3410,0,2396	9	0	1	0
chr1	16400834	16400834	C	T	exonic	SPATA21	.	nonsynonymous SNV	SPATA21:NM_001353349:exon9:c.G991A:p.V331I,SPATA21:NM_198546:exon11:c.G1060A:p.V354I	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00514295662579	7.7e-05	0.000399361	0.0005	0	0.0007	0	0	0.0001	0	0.0029	0.0004204	65	154602	rs140765732	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0024	0.0023	2.987e-05	0.0008	0	2.519e-05	0	0.0012	5.755e-05	0.0004	0.0026	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	9.62e-05	0	0.0009	0	0	0	0	0	0.0009	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.994206	0.08010	N	0.996911	1	0.08975	N	-1.79	0.00298	N	0.99	0.63403	T	0.06	0.07008	N	0.041	0.01658	-1.0237	0.22508	T	0.060	0.25090	T	10	0.005812824	0.00130	T	0.005143	0.13063	T	0.081	0.23632	.	.	0.0716867268079	0.06686	0.13942537549410816	0.13865	0.0730412947791	0.08188	0.31747674942	0.13039	T	6.92E-4	0.00312	T	-0.603146	0.00140	T	-0.64408	0.09374	T	0.00645700944199864	0.00072	T	0.324268	0.07018	T	0.024307951	0.01250	0.055541426	0.09761	0.024307951	0.01249	0.055541426	0.09761	-3.397	0.15016	T	.	.	0.060	0.01161	B	.;.;.	.;.;.	-0.536659	0.01753	0.132	0.80793261980074038	0.13371	0.00277	0.01499	N	AEFDBCI	0.011297	0.00097	N	-1.33076955875802	0.03329	0.1484966	-1.21596256966188	0.05653	0.2699394	0.981349876414268	0.30250	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.714379	0.83352	0	.	.	3.93	2.8	0.31881	-0.291000	0.08379	-0.833000	0.07248	-0.115000	0.14600	0.003000	0.16062	0.000000	0.08366	0.055000	0.15596	0.0:0.1115:0.0:0.8885	6.368	0.20670	764	0.49969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	958.43	33	chr1	16400834	.	C	T	958.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.245;DP=405;ExcessHet=0;FS=2.8;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.9;SOR=0.45	GT:AD:DP:GQ:PL	0/1:52,41:93:99:970,0,1183	9	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.5	19915.0	795	chr1	16563946	.	C	T	19915.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.034;DP=5672;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.33;MQRankSum=-8.109;QD=3.62;ReadPosRankSum=0.15;SOR=0.707	GT:AD:DP:GQ:PL	0/1:289,107:396:99:2228,0,8334	0	0	10	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.5	25605.0	1089	chr1	16563989	.	G	C	25605.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.602;DP=7782;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.72;MQRankSum=-3.519;QD=3.37;ReadPosRankSum=0.72;SOR=0.713	GT:AD:DP:GQ:PL	0/1:420,152:572:99:2835,0,11102	0	0	10	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.35	27604.9	1046	chr1	16564107	.	T	G	27604.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.873;DP=6880;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.41;MQRankSum=4.65;QD=5.15;ReadPosRankSum=0.56;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:330,232:562:99:.:.:5621,0,10257:.	3	0	7	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	51922.0	769	chr1	16564144	.	C	T	51922.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.597;DP=5482;ExcessHet=22.563;FS=1.183;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.28;MQRankSum=-17.39;QD=9.75;ReadPosRankSum=-0.081;SOR=0.807	GT:AD:DP:GQ:PL	0/1:169,224:393:99:5983,0,6279	0	0	10	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.45	38369.0	743	chr1	16564149	.	C	T	38369.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.237;DP=5102;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=53.19;MQRankSum=6.51;QD=8.24;ReadPosRankSum=-0.21;SOR=0.699	GT:AD:DP:GQ:PL	0/1:220,161:381:99:3833,0,8619	1	0	9	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.1	5105.14	143	chr1	16567226	.	A	C	5105.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.71;DP=3343;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.35;MQRankSum=-2.313;QD=2.9;ReadPosRankSum=1;SOR=0.718	GT:AD:DP:GQ:PL	0/1:590,151:741:99:2400,0,16159	8	0	2	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.1	5704.14	147	chr1	16569091	.	T	C	5704.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.036;DP=1533;ExcessHet=0.2348;FS=0.539;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.19;MQRankSum=-0.791;QD=6.99;ReadPosRankSum=0.879;SOR=0.72	GT:AD:DP:GQ:PL	0/1:211,136:347:99:2603,0,5123	8	0	2	0
chr1	16758074	16758074	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon12:c.C1529T:p.T510M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	.	.	.	0.0008	0.0002	0.0006	0	0.0010	0.0011	0.0012	0.0005	3.84e-05	1	26028	rs761937193	1.647e-05	3.771e-05	1.626e-05	1.669e-05	0.0001	1.078e-05	9.21e-06	2.795e-05	1.474e-05	0.0001	0	0	0	2.077e-05	0	1.352e-05	5.416e-05	1.397e-05	2.266e-05	7.347e-05	2.913e-05	1.569e-05	4.833e-05	6.02e-06	2.67e-06	1.283e-05	6.56e-06	0	0	0	0	0	0	0	4.833e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	121.43	387	chr1	16758074	.	G	A	121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.485;DP=2495;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=40.09;MQRankSum=-3.086;QD=0.4;ReadPosRankSum=0.214;SOR=0.736	GT:AD:DP:GQ:PL	0/1:268,39:307:99:133,0,7385	9	0	1	0
chr1	16758583	16758583	T	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon11:c.A1397G:p.Q466R	.	381	1122	19	0	0	19	0.00839593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	.	0.0063	0.0015	0.0026	0	0.0070	0.0081	0.0045	0.0079	0.0005379	14	26028	rs1267876048	6.221e-06	8.418e-05	9.614e-06	2.783e-06	8.161e-06	2.93e-06	2.12e-06	3.84e-06	2.78e-06	0	0	0	0	0	0	8.161e-06	0	0	5.593e-05	0.0002	2.719e-05	8.636e-05	7.629e-05	2.702e-05	1.934e-05	2.928e-05	1.917e-05	0	0.0012	6.992e-05	0	0	0.0001	0	7.629e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	448.43	143	chr1	16758583	.	T	C	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.163;DP=1655;ExcessHet=0;FS=1.954;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.49;MQRankSum=-1.413;QD=1.44;ReadPosRankSum=0.578;SOR=0.516	GT:AD:DP:GQ:PL	0/1:258,53:311:99:460,0,6745	9	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	6195.93	32	chr1	16759590	.	G	GC	6195.93	.	AC=14;AF=0.7;AN=20;BaseQRankSum=4.12;DP=691;ExcessHet=0.6204;FS=9.451;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=43.53;MQRankSum=-1.968;QD=12.62;ReadPosRankSum=-3.002;SOR=0.893	GT:AD:DP:GQ:PL	0/1:77,17:94:99:307,0,2454	1	5	4	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	4717.98	171	chr1	16760446	.	C	T	4717.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=3.08;DP=2202;ExcessHet=4.5998;FS=15.492;InbreedingCoeff=-0.4285;MLEAC=6;MLEAF=0.3;MQ=45.05;MQRankSum=-0.209;QD=3.2;ReadPosRankSum=-0.377;SOR=1.841	GT:AD:DP:GQ:PL	0/1:114,34:148:99:759,0,3326	4	0	6	0
chr1	17000309	17000309	T	A	exonic	ATP13A2	.	nonsynonymous SNV	ATP13A2:NM_001141973:exon10:c.A829T:p.S277C,ATP13A2:NM_001141974:exon10:c.A829T:p.S277C,ATP13A2:NM_022089:exon10:c.A844T:p.S282C	Kufor-Rakeb syndrome, Autosomal recessive;Spastic paraplegia 78, autosomal recessive, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	515306	Autosomal_recessive_spastic_paraplegia_type_78|Kufor-Rakeb_syndrome|not_provided	MONDO:MONDO:0014975,MedGen:C5567893,OMIM:617225,Orphanet:513436|MONDO:MONDO:0011706,MedGen:C1847640,OMIM:606693,Orphanet:306674,Orphanet:314632|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.71652311242	.	0.000199681	0.0012	0	0.0027	0	0	0	0.0075	0.0039	0.0003558	55	154602	rs538497077	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	3.038e-05	0.0008	0	0	0	0.0017	2.099e-05	0.0003	0.0027	0.0002	0.0002	0.0001	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0009	0	0	0	0	1.473e-05	0	0.0033	0.033	0.61437	D	0.093	0.57587	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999647	0.48019	D	3.295	0.90403	M	-2.75	0.90792	D	-3.2	0.67359	D	0.878	0.87590	0.672	0.92818	D	0.808	0.93529	D	10	0.07707608	0.12119	T	0.716523	0.97701	D	0.729	0.90501	0.744	0.87570	0.970977610466	0.97066	0.688922962712473	0.68832	1.05403310488	0.76262	0.482453584671	0.36395	T	0.826	0.95792	D	-0.0186517	0.49044	T	0.195505	0.82880	D	0.149582149042247	0.17070	T	0.950205	0.81824	D	0.31373098	0.54106	0.22297612	0.47161	0.35394886	0.57372	0.2186752	0.46579	-10.946	0.79505	D	0.4682878081554091	0.54922	0.145	0.51077	B	.;.;.;.;.	.;.;.;.;.	4.603345	0.72932	25.9	0.99040253592095528	0.51006	0.91162	0.52981	D	AEFDBI	0.489002	0.52709	N	0.553509864016431	0.70295	5.48079	0.507976475590223	0.68526	5.232249	0.27483419522533	0.18929	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	2.570000	0.45645	7.696000	0.66036	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.064	0.52876	846	0.36215	.;.;.;.;.	.	.	.	.	.	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	0.001015	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	1875.43	38	chr1	17000309	.	T	A	1875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.484;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.52;SOR=0.644	GT:AD:DP:GQ:PL	0/1:48,72:120:99:1887,0,1247	9	0	1	0
chr1	18482857	18482857	G	C	exonic	KLHDC7A	.	nonsynonymous SNV	KLHDC7A:NM_152375:exon1:c.G1876C:p.A626P	.	431	1065	24	2	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	.	0.0002	0.0339457	0.0195	0.0005	0.0012	0.0001	0	0.0002	0.0176	0.1335	0.0157695	2438	154602	rs137875112	0.0077	0.0077	0.0043	0.0111	0.1216	0.0076	0.0075	0.1197	0.1189	0.0005	0.0002	0	7.561e-05	0	0.0038	0.0002	0.0082	0.1216	0.0045	0.0045	0.0025	0.0065	0.1363	0.0042	0.0041	0.1277	0.1243	0.0002	0	0.0003	0	0.0006	0	0	7.35e-05	0.0019	0.1363	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.67	0.78151	M	-0.28	0.67543	T	-4.99	0.82221	D	0.276	0.31253	0.069	0.83603	D	0.508	0.81498	D	10	0.002309084	0.00034	T	.	.	.	0.669	0.87722	.	.	.	.	0.855593517401203	0.85522	1.34841275358	0.84028	0.710741639137	0.68701	T	0.134846	0.46632	T	-0.162255	0.26414	T	0.101277	0.76992	D	0.0808052761480006	0.10090	T	0.818018	0.47523	T	0.93457544	0.94697	0.8894984	0.94231	0.93457544	0.94697	0.8894984	0.94231	-10.349	0.75975	D	.	.	0.383	0.58588	A	.	.	5.220644	0.87614	29.3	0.99748549339016168	0.84077	0.99423	0.95841	D	AEFDBHI	0.957521	0.97676	D	0.813802399230385	0.86962	9.056622	0.76634760555131	0.87372	9.199578	0.999999958725453	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	8.019000	0.89128	11.799000	0.96598	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.059	0.86417	975	0.05339	.	.	.	.	.	.	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	0.016616	0.000000	0.000000	0.011696	0.050000	0.000000	0.003049	0.068182	0.05	1642.43	40	chr1	18482857	.	G	C	1642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=522;ExcessHet=0;FS=1.247;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.728;SOR=0.801	GT:AD:DP:GQ:PL	0/1:98,64:162:99:1654,0,2519	9	0	1	0
chr1	19906461	19906461	C	T	exonic	OTUD3	.	stopgain	OTUD3:NM_015207:exon7:c.C865T:p.R289X	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0.0011	0	0.0002	0	0.0011	0.0003	0.0001358	21	154602	rs191701178	4.858e-05	4.857e-05	4.357e-05	5.364e-05	0.0009	3.927e-05	3.605e-05	0.0007	0.0006	0	0.0009	0	2.519e-05	1.872e-05	0.0003	3.598e-06	6.625e-05	0.0002	2.628e-05	2.625e-05	1.285e-05	4.032e-05	0.0002	8.14e-06	5.14e-06	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.493229	0.12033	N	0.762817	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.179	0.19325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105051	0.64834	D	0.31893	0.89045	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.290974	0.96361	36	0.99586033747463643	0.73336	0.25576	0.22740	N	AEFDBI	0.079608	0.16082	N	0.383171811175741	0.60509	4.240671	0.176803601391542	0.48580	3.071915	1.78624942172077E-4	0.05786	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.78	2.43	0.28797	0.425000	0.21065	3.018000	0.35990	0.594000	0.32500	0.003000	0.16062	0.968000	0.29604	0.994000	0.71098	0.2794:0.4847:0.2359:0.0	8.687	0.33407	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2548.43	33	chr1	19906461	.	C	T	2548.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.61;DP=560;ExcessHet=0;FS=2.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.11;SOR=0.877	GT:AD:DP:GQ:PL	0/1:140,101:241:99:2560,0,3426	9	0	1	0
chr1	25805153	25805153	G	A	exonic	SELENON	.	unknown	UNKNOWN	Muscular dystrophy, rigid spine, 1, Autosomal recessive;Myopathy, congenital, with fiber-type disproportion, Autosomal recessive, Autosomal dominant	2	1515	5	0	0	5	0.00164745	.	.	.	206785	Congenital_myopathy_with_fiber_type_disproportion|Eichsfeld_type_congenital_muscular_dystrophy|SEPN1-related_disorder|not_specified|not_provided	MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0011271,MedGen:C0410180,OMIM:602771|MedGen:CN239420|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.023	0.0122374439035	0.0005	.	0.0007	0.0002	0.0006	0	0	0.0011	0.0022	0.0001	0.000815	126	154602	rs201692549	0.0012	0.0012	0.0012	0.0011	0.0014	0.0011	0.0011	0.0013	0.0013	0.0004	0.0010	0	0	7.525e-05	0.0004	0.0014	0.0010	0.0001	0.0009	0.0009	0.0010	0.0007	0.0014	0.0008	0.0007	0.0011	0.0010	0.0005	0	0.0013	0	0	0	0	0.0014	0.0014	0	1.0	0.11550	T	0.666	0.06427	T	0.004	0.12183	B	0.001	0.04355	B	0.701531	0.06206	N	1.144270	1	0.08975	N	-0.17	0.04298	N	2.95	0.54540	T	0.27	0.05217	N	0.057	0.31027	-1.0282	0.21038	T	0.043	0.18493	T	10	0.007618934	0.00173	T	0.012237	0.30635	T	0.023	0.04649	.	.	0.158396225186	0.15383	.	.	0.235359856156	0.26065	0.224432840943	0.01582	T	0.051133	0.28794	T	-0.559902	0.00254	T	-0.601664	0.12672	T	0.000496167081268919	0.00004	T	0.513749	0.16498	T	0.051467117	0.09456	0.057641283	0.10515	0.051467117	0.09456	0.057641283	0.10515	.	.	.	.	.	0.072	0.04396	B	.;.;.	.;.;.	1.135421	0.15225	11.68	0.59833787531009552	0.06318	0.09258	0.15050	N	AEFDGBI	0.097508	0.19665	N	-1.42331487098782	0.02435	0.1075211	-1.38879890599823	0.03370	0.1570784	0.999988263948068	0.51787	0.695654	0.57023	0	0.681609	0.65952	0	0.723109	0.80598	0	0.591603	0.36755	0	.	.	4.19	-1.02	0.09618	0.697000	0.25234	1.702000	0.28138	0.672000	0.70159	0.000000	0.06391	0.002000	0.18203	0.137000	0.19835	0.3338:0.0:0.513:0.1532	4.066	0.09341	661	0.61838	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1255.43	33	chr1	25805153	.	G	A	1255.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.816;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,49:97:99:0|1:25805153_G_A:1267,0,1109:25805153	9	0	1	0
chr1	25988233	25988233	G	C	exonic	PAFAH2	.	nonsynonymous SNV	PAFAH2:NM_000437:exon4:c.C339G:p.F113L	.	.	.	.	.	.	.	.	0.9295	0.624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0138774376806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.46910	D	0.171	0.30339	T	0.948	0.53620	P	0.754	0.56161	P	0.000003	0.62929	D	0.000000	1	0.81001	D	2.865	0.83145	M	0.51	0.55439	T	-3.27	0.67824	D	0.77	0.76760	-0.9926	0.31933	T	0.160	0.49463	T	10	0.7320503	0.74365	D	0.013877	0.33612	T	0.280	0.59740	0.816	0.93060	0.469248961376	0.46551	0.4175625665605737	0.41672	0.379620937222	0.39352	0.670211315155	0.62868	T	0.40766	0.76321	T	0.0892291	0.63104	D	-0.109605	0.62643	T	0.987691700458527	0.78141	D	0.948505	0.93712	D	0.49179837	0.66609	0.41604352	0.65700	0.49179837	0.66610	0.41604352	0.65700	-10.2	0.75100	D	.	.	0.912	0.84664	P	.;.;.;.	.;.;.;.	5.279278	0.88641	29.7	0.99869048646591763	0.94726	0.90289	0.51347	D	AEFDBI	0.524913	0.54791	D	0.401751944433067	0.61518	4.354089	0.480443975030024	0.66695	4.985676	0.999999980210273	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.84	5.84	0.93373	4.061000	0.57199	9.991000	0.82984	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0775:0.0:0.9225:0.0	12.941	0.57737	690	0.58899	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1151.43	40	chr1	25988233	.	G	C	1151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.531;DP=407;ExcessHet=0;FS=2.997;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.542;SOR=1.135	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1163,0,1001	9	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	2219.09	64	chr1	26282357	.	CTGGGGCCGGG	*	2219.09	.	AC=14;AF=0.7;AN=20;DP=410;ExcessHet=1.5895;FS=14.029;InbreedingCoeff=-0.25;MLEAC=14;MLEAF=0.7;MQ=60;QD=5.92;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,20:30:99:0|1:26282323_A_G:799,0,339:26282323	0	4	6	0
chr1	26344884	26344884	A	G	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.T1774C:p.S592P	.	398	1117	7	0	0	7	0.00312361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0029	0	0	0	0.0128	0.0006	0	0.0047	0.0004657	72	154602	rs538385557	0.0006	0.0006	0.0005	0.0008	0.0056	0.0006	0.0006	0.0046	0.0045	3.174e-05	5.618e-05	3.982e-05	0	0.0023	0.0056	0.0003	0.0006	0.0050	0.0007	0.0007	0.0005	0.0008	0.0045	0.0006	0.0005	0.0030	0.0025	7.951e-05	0	0.0001	0	0	0.0024	0	0.0007	0.0015	0.0045	0.007	0.59928	D	0.372	0.16376	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.19	0.78427	T	-3.67	0.70191	D	0.045	0.01740	.	.	.	.	.	.	.	0.0076414645	0.00174	T	.	.	.	.	.	.	.	0.593458155424	0.59024	0.02519222091890092	0.02470	.	.	0.312482118607	0.12282	T	0.508241	0.82561	D	-0.544142	0.00316	T	-0.553583	0.16984	T	.	.	.	0.20068	0.02286	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12181	B	.;.;.	.;.;.	0.128573	0.05245	1.749	0.46358438282256698	0.03707	0.00081	0.00551	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.060607950324704	0.15203	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0567458	0.13447	2.56	-0.481	0.11479	-0.598000	0.05802	-3.681000	0.02609	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3975:0.0:0.3879:0.2146	2.632	0.04647	355	0.85216	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005359	0.000000	0.001416	0.006993	0.000000	0.019608	0.006369	0.007812	0.05	2088.43	115	chr1	26344884	.	A	G	2088.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.421;DP=1233;ExcessHet=0;FS=0.547;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=1.3;QD=11.41;ReadPosRankSum=-1.142;SOR=0.624	GT:AD:DP:GQ:PL	0/1:100,83:183:99:2100,0,2691	9	0	1	0
chr1	26346482	26346482	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.G176A:p.R59H	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	8.2e-05	0.000798722	0.0005	0.0001	0.0006	0	0	6.263e-05	0.0012	0.0031	0.0004463	69	154602	rs370067840	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	0.0004	0	5.038e-05	0	0	1.259e-05	0.0002	0.0033	0.0002	0.0002	6.426e-05	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	4.813e-05	0	0.0001	0	0.0002	0	0	0	0	0.0043	.	.	.	0.544	0.09621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-0.9585	0.39461	T	0.012	0.04510	T	9	0.006425917	0.00146	T	.	.	.	0.044	0.11924	.	.	0.0297737177859	0.01360	0.04577471199051958	0.04521	.	.	0.206053942442	0.00655	T	.	.	.	-0.782315	0.00011	T	-0.899882	0.00503	T	0.0125665755209146	0.00209	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.46250	B	.;.;.	.;.;.	0.382107	0.07541	4.190	0.5933387920255544	0.06200	0.00575	0.02600	N	AEFDBHCI	.	.	.	-1.48351235336492	0.01966	0.08633371	-1.46811101694895	0.02610	0.1203354	0.0267706460024836	0.13733	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.04	-2.42	0.06164	-0.432000	0.07026	-4.291000	0.02235	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3138:0.1908:0.1383:0.3571	0.242	0.00179	349	0.85513	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001554	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.007576	0.05	2031.43	42	chr1	26346482	.	C	T	2031.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.96;DP=574;ExcessHet=0;FS=2.393;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=1.97;SOR=0.75	GT:AD:DP:GQ:PL	0/1:129,85:214:99:2043,0,3051	9	0	1	0
chr1	33625105	33625105	G	A	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon34:c.C5446T:p.L1816F,CSMD2:NM_052896:exon34:c.C5326T:p.L1776F	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0397671201126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.45756	T	0.016	0.60972	D	0.992	0.67487	D	0.917	0.72226	D	0.000001	0.84330	D	0.000000	0.998957	0.81001	D	2.48	0.72069	M	-0.23	0.66652	T	-1.37	0.34795	N	0.544	0.62526	-0.0486	0.81236	T	0.536	0.82825	D	10	0.45392996	0.58871	T	0.039767	0.58997	D	0.291	0.61040	0.463	0.53242	0.713242254277	0.71073	0.2562714461483835	0.25541	.	.	0.568041622639	0.48401	T	0.04929	0.28264	T	0.0495398	0.58284	T	-0.166616	0.57753	T	0.953926682472229	0.64142	D	0.916808	0.70203	D	0.20832162	0.43065	0.25479883	0.51151	0.20832162	0.43065	0.25479883	0.51150	-7.733	0.59237	D	.	.	0.086	0.11366	B	.;.;.;.	.;.;.;.	3.963560	0.58153	23.9	0.9986875180844812	0.94637	0.86990	0.46399	D	AEFDGBHCI	0.667404	0.63553	D	0.843118614872463	0.88711	9.682883	0.831833643253109	0.91912	11.13409	0.999999998711654	0.74766	0.77792	0.99625	0	0.615948	0.52940	0	0.854111	0.99894	0	0.584449	0.35598	0	.	.	6.16	6.16	0.99302	4.648000	0.61122	8.622000	0.77815	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.424	0.94724	469	0.78175	.;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	.	.	.	.	.	.	.	.	0.05	720.43	37	chr1	33625105	.	G	A	720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.722;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.013;SOR=0.768	GT:AD:DP:GQ:PL	0/1:54,33:87:99:732,0,1311	9	0	1	0
chr1	34212324	34212324	C	G	exonic	C1orf94	.	nonsynonymous SNV	C1orf94:NM_001134734:exon6:c.C1639G:p.P547A,C1orf94:NM_032884:exon6:c.C1069G:p.P357A	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	.	0.00439297	0.0027	0	0	0.0001	0	1.499e-05	0.0011	0.0194	0.0022574	349	154602	rs373171181	0.0012	0.0012	0.0006	0.0018	0.0187	0.0011	0.0011	0.0179	0.0176	2.987e-05	0	0	2.519e-05	0	0.0005	3.417e-05	0.0011	0.0187	0.0007	0.0007	0.0003	0.0010	0.0194	0.0005	0.0005	0.0162	0.0150	7.229e-05	0	0	0	0.0004	0	0	1.47e-05	0	0.0194	0.0	0.91255	D	0.0	0.92824	D	0.987	0.61912	D	0.849	0.60615	P	0.000406	0.44736	D	0.099352	0.524156	0.31921	D	1.625	0.41611	L	1.7	0.27822	T	-5.7	0.87380	D	0.501	0.53972	-0.6499	0.62719	T	0.151	0.47856	T	10	0.0063800216	0.00144	T	.	.	.	0.132	0.35948	.	.	0.544738774389	0.54127	0.37178014279075466	0.37092	0.197010425649	0.22071	.	.	.	0.022062	0.17072	T	-0.426871	0.01548	T	-0.371011	0.36771	T	0.170159305944066	0.18591	T	0.669833	0.27843	T	0.54448825	0.69648	0.5142958	0.71935	0.54448825	0.69649	0.5142958	0.71936	-3.744	0.20282	T	.	.	0.087	0.11220	B	.;.	.;.	2.850862	0.37639	20.5	0.99572670672526864	0.72501	0.73407	0.35908	D	AEFDBI	0.103673	0.20764	N	0.409477621458752	0.61941	4.402433	0.341976418535488	0.58027	3.970891	0.407444686760271	0.20183	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.18	4.25	0.49658	2.043000	0.40854	2.160000	0.30975	0.597000	0.34315	0.427000	0.26385	0.989000	0.31174	0.975000	0.56047	0.1879:0.8121:0.0:0.0	10.931	0.46432	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3269.43	36	chr1	34212324	.	C	G	3269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.018;DP=617;ExcessHet=0;FS=0.429;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.192;SOR=0.654	GT:AD:DP:GQ:PL	0/1:146,139:285:99:3281,0,3648	9	0	1	0
chr1	36456246	36456246	G	C	exonic	MRPS15	.	nonsynonymous SNV	MRPS15:NM_031280:exon7:c.C577G:p.P193A	.	431	1084	6	0	1	7	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	.	.	0.0103834	0.0060	0.0002	0.0003	0	0	6.008e-05	0.0022	0.0436	0.0052522	812	154602	rs201522148	0.0028	0.0028	0.0016	0.0040	0.0439	0.0027	0.0027	0.0427	0.0422	0.0001	0.0002	0	0.0002	0	0.0010	7.284e-05	0.0026	0.0439	0.0015	0.0015	0.0008	0.0023	0.0449	0.0014	0.0013	0.0400	0.0381	9.624e-05	0	0.0002	0	0.0004	0	0	8.835e-05	0.0005	0.0449	0.023	0.48186	D	0.029	0.54541	D	0.908	0.50127	P	0.527	0.48453	P	0.000006	0.62929	D	0.146573	0.999996	0.58761	D	2.14	0.59869	M	.	.	.	-5.4	0.85103	D	0.406	0.44666	-0.3091	0.74730	T	0.320	0.68882	T	9	0.004027784	0.00078	T	.	.	.	0.402	0.71558	.	.	0.637113853397	0.63413	0.43436745631338997	0.43353	0.597807685971	0.54967	0.380589306355	0.22339	T	0.388229	0.74896	T	-0.303701	0.08315	T	-0.177605	0.56744	T	0.0898948957610165	0.11206	T	0.713029	0.32487	T	0.22880065	0.45606	0.24839096	0.50388	0.22880065	0.45606	0.24839096	0.50387	-9.134	0.68555	D	.	.	0.200	0.42302	B	.	.	2.808836	0.36971	20.4	0.9930085584776398	0.58613	0.98848	0.87654	D	AEFBI	0.644050	0.62044	D	0.53193251129426	0.68988	5.293776	0.53074201271359	0.70068	5.451288	0.999995593311148	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.26	0.73479	6.279000	0.72647	1.902000	0.29588	-0.107000	0.15377	1.000000	0.71638	0.979000	0.30280	0.935000	0.47363	0.0:0.0:0.8634:0.1366	15.845	0.78661	126	0.94940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.026515	0.05	709.43	33	chr1	36456246	.	G	C	709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.485;DP=370;ExcessHet=0;FS=0.984;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.232;SOR=0.475	GT:AD:DP:GQ:PL	0/1:31,31:62:99:721,0,775	9	0	1	0
chr1	37857470	37857470	G	T	exonic	MTF1	.	nonsynonymous SNV	MTF1:NM_005955:exon2:c.C189A:p.D63E	.	8	1509	5	0	0	5	0.00165399	.	.	.	696718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.166	.	0.0062	0.00259585	0.0096	0.0011	0.0007	0	0.0295	0.0139	0.0088	0.0007	0.0093013	1438	154602	rs41267341	0.0094	0.0094	0.0097	0.0091	0.0106	0.0093	0.0092	0.0104	0.0104	0.0016	0.0011	0	0	0.0264	0.0010	0.0106	0.0061	0.0007	0.0073	0.0074	0.0071	0.0075	0.0107	0.0070	0.0068	0.0101	0.0098	0.0016	0.0318	0.0009	0	0	0.0250	0	0.0107	0.0033	0.0008	0.635	0.05076	T	1.0	0.01155	T	0.139	0.27501	B	0.055	0.25995	B	0.000000	0.84330	D	0.049574	0.990873	0.24113	N	0.525	0.13617	N	3.12	0.08106	T	-0.67	0.19297	N	0.156	0.16168	-1.0497	0.14481	T	0.005	0.01506	T	10	0.001942426	0.00027	T	.	.	.	0.166	0.42578	0.304	0.27325	0.368770208536	0.36493	0.28210966629395823	0.28123	1.10674519468	0.77915	0.523692309856	0.42146	T	.	.	.	-0.620519	0.00109	T	-0.647853	0.09104	T	0.00484275242672533	0.00052	T	0.711729	0.32279	T	0.1058727	0.25032	0.067161396	0.13856	0.1058727	0.25032	0.067161396	0.13855	-2.349	0.04830	T	.	.	0.175	0.38245	B	.	.	-1.774560	0.00166	0.002	0.79552786494980054	0.12794	0.07678	0.13683	N	AEFBI	0.118550	0.23177	N	-1.8798017172648	0.00378	0.01623017	-1.83812928703088	0.00644	0.02865607	0.999999996327996	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	5.62	-8.4	0.00843	-2.032000	0.01514	-2.755000	0.03395	-1.324000	0.01223	0.000000	0.06391	0.000000	0.08366	0.254000	0.23365	0.6024:0.0744:0.3232:0.0	13.711	0.62148	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	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	2355.43	35	chr1	37857470	.	G	T	2355.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.35;DP=525;ExcessHet=0;FS=1.711;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.296;SOR=0.75	GT:AD:DP:GQ:PL	0/1:110,92:202:99:2367,0,2695	9	0	1	0
chr1	40069786	40069786	C	T	exonic	CAP1	.	nonsynonymous SNV	CAP1:NM_001105530:exon9:c.C905T:p.A302V,CAP1:NM_001330502:exon9:c.C902T:p.A301V,CAP1:NM_001350476:exon9:c.C905T:p.A302V,CAP1:NM_001350477:exon9:c.C905T:p.A302V,CAP1:NM_001350479:exon9:c.C905T:p.A302V,CAP1:NM_001350480:exon9:c.C905T:p.A302V,CAP1:NM_001350481:exon9:c.C905T:p.A302V,CAP1:NM_001350482:exon9:c.C902T:p.A301V,CAP1:NM_001350483:exon9:c.C902T:p.A301V,CAP1:NM_001350485:exon9:c.C902T:p.A301V,CAP1:NM_006367:exon9:c.C905T:p.A302V,CAP1:NM_001350475:exon10:c.C905T:p.A302V,CAP1:NM_001350478:exon10:c.C905T:p.A302V,CAP1:NM_001350484:exon10:c.C902T:p.A301V	.	431	1075	14	2	0	18	0.00830258	.	.	.	3298832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.00627107017972	0.0003	0.000199681	0.0005	0.0002	0.0003	0	0.0003	0.0005	0.0011	0.0012	0.0003946	61	154602	rs201677980	0.0004	0.0004	0.0004	0.0004	0.0069	0.0004	0.0004	0.0052	0.0046	0.0003	0.0009	0.0003	0	0.0004	0.0069	0.0003	0.0008	0.0008	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0010	0.0008	0.0002	0	0.0014	0	0	0.0006	0.0068	0.0005	0.0014	0.0010	0.01	0.56456	D	0.05	0.48336	T	0.837	0.46346	P	0.434	0.45506	B	0.000009	0.62929	D	0.111766	0.999705	0.50595	D	2.305	0.65957	M	2.76	0.11515	T	-2.01	0.46337	N	0.205	0.22998	-1.1838	0.00317	T	0.041	0.17615	T	10	0.038006812	0.02191	T	0.006271	0.16464	T	0.101	0.28911	.	.	0.350697349064	0.34675	0.34790820602998895	0.34704	0.342173482841	0.36152	0.506744980812	0.39768	T	0.068491	0.33471	T	-0.382951	0.02984	T	-0.394346	0.34044	T	0.0612388219738065	0.07363	T	0.770723	0.40088	T	0.27285254	0.50354	0.22329414	0.47203	0.27285254	0.50354	0.22329414	0.47202	-6.553	0.50800	T	.	.	0.075	0.10304	B	.;.;.;.;.;.	.;.;.;.;.;.	3.291997	0.45147	22.1	0.9990005796791841	0.97199	0.94855	0.62564	D	AEFBCI	0.805473	0.73005	D	0.285680783092782	0.55421	3.706285	0.40573520871201	0.61922	4.399274	0.999999999968951	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.59	5.59	0.84677	4.447000	0.59762	3.357000	0.37830	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.598	0.91192	334	0.86273	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006579	0.000000	0.008152	0.008824	0.000000	0.034483	0.000000	0.000000	0.05	1512.43	34	chr1	40069786	.	C	T	1512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.073;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.9;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.63;SOR=0.7	GT:AD:DP:GQ:PL	0/1:83,62:145:99:1524,0,2088	9	0	1	0
chr1	41382210	41382211	CA	-	exonic	FOXO6	.	frameshift deletion	FOXO6:NM_001291281:exon3:c.1009_1010del:p.Q337Gfs*39	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.00073	19	26028	rs373524987	0.0043	0.0026	0.0045	0.0042	0.0067	0.0042	0.0042	0.0046	0.0041	0.0037	0.0031	0.0057	0.0067	0	0.0037	0.0043	0.0050	0.0039	4.089e-05	0.0013	5.307e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	289.49	4	chr1	41382209	.	CCA	C	289.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=86;ExcessHet=0.2348;FS=11.139;InbreedingCoeff=-0.1289;MLEAC=1;MLEAF=0.05;MQ=59.31;MQRankSum=0;QD=18.09;ReadPosRankSum=0.938;SOR=4.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:41382209_CCA_C:78,0,78:41382209	9	0	1	0
chr1	41382212	41382212	-	GGAC	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1011_1012insGGAC:p.A338Gfs*40	.	580	911	21	4	6	35	0.0156672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	.	0.0043	0.0026	0.0045	0.0042	0.0068	0.0042	0.0042	0.0048	0.0041	0.0038	0.0030	0.0057	0.0068	0	0.0037	0.0043	0.0048	0.0039	4.088e-05	0.0009	5.306e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	73.33	4	chr1	41382212	.	G	GGGAC	73.33	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.887;DP=88;ExcessHet=0;FS=6.368;InbreedingCoeff=-0.062;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:41382209_CCA_C:75,0,120:41382209	9	0	1	0
chr1	44701045	44701045	G	C	exonic	ARMH1	.	nonsynonymous SNV	ARMH1:NM_001145636:exon5:c.G565C:p.G189R	.	427	1091	4	0	0	4	0.00182983	.	.	.	2812759	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.205	.	0.0061	0.00319489	0.0048	0.0005	0.0024	0	0.0135	0.0076	0.0124	0.0013	0.0020051	310	154602	rs4322271	0.0070	0.0068	0.0073	0.0068	0.0078	0.0069	0.0069	0.0076	0.0076	0.0011	0.0065	0.0069	0	0.0109	0.0026	0.0078	0.0066	0.0012	0.0054	0.0054	0.0056	0.0051	0.0076	0.0051	0.0049	0.0071	0.0068	0.0014	0.0186	0.0062	0.0055	0	0.0085	0	0.0076	0.0080	0.0008	0.018	0.63226	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	.	.	.	0.43	0.56772	T	-5.19	0.83625	D	0.821	0.81658	-0.5268	0.67662	T	0.260	0.63066	T	10	0.009191453	0.00208	T	.	.	.	0.494	0.77973	.	.	0.203808441222	0.19973	0.7365968518368619	0.73604	.	.	.	.	.	0.316552	0.68808	T	-0.0405432	0.45869	T	0.178381	0.81903	D	0.0253349440291391	0.01317	T	0.922508	0.76517	D	0.69405615	0.77732	0.80958045	0.88874	0.69405615	0.77733	0.80958045	0.88874	-11.985	0.84778	D	.	.	0.968	0.89096	P	.;.;.;.	.;.;.;.	5.204782	0.87323	29.2	0.99943175025758968	0.99848	0.66957	0.33260	D	AEFBCI	0.861877	0.78003	D	0.551578394565844	0.70178	5.46357	0.635854040271539	0.77563	6.703158	0.999999999999846	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.11	6.11	0.99132	6.284000	0.72677	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.329	0.98710	0	0.99858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002457	0.000000	0.007812	0.000000	0.000000	0.000000	0.005814	0.000000	0.05	580.43	33	chr1	44701045	.	G	C	580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.083;DP=381;ExcessHet=0;FS=1.931;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.74;ReadPosRankSum=0.189;SOR=0.722	GT:AD:DP:GQ:PL	0/1:45,30:75:99:592,0,1084	9	0	1	0
chr1	45012913	45012913	G	C	exonic	UROD	.	nonsynonymous SNV	UROD:NM_000374:exon2:c.G27C:p.Q9H	Porphyria cutanea tarda, Autosomal dominant;Porphyria, hepatoerythropoietic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	864495	Familial_porphyria_cutanea_tarda|not_specified|not_provided	MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.0506838942365	0.0002	.	7.567e-05	0	8.721e-05	0	0	0.0001	0	0	6.47e-05	10	154602	rs150027651	9.717e-05	9.714e-05	9.941e-05	9.491e-05	0.0001	8.379e-05	7.918e-05	9.613e-05	8.96e-05	0	2.237e-05	0.0004	0	0	0	0.0001	8.283e-05	0	5.929e-05	5.915e-05	7.723e-05	4.049e-05	6.569e-05	3.085e-05	2.215e-05	1.973e-05	1.125e-05	2.423e-05	0	6.569e-05	0.0009	0	0	0	5.884e-05	0	0	0.254	0.16903	T	0.311	0.19660	T	0.009	0.15093	B	0.009	0.14300	B	0.008225	0.30949	N	0.382752	1	0.08975	N	0.27	0.09956	N	-3.53	0.94764	D	-0.66	0.24026	N	0.289	0.32701	-0.4407	0.70707	T	0.514	0.81797	D	10	0.08211532	0.13516	T	0.050684	0.64345	D	0.201	0.48592	0.368	0.37687	0.945078011147	0.94450	0.6834013975892372	0.68279	0.438197802347	0.43858	0.328576415777	0.14718	T	0.206947	0.56643	T	-0.0795716	0.39783	T	-0.147525	0.59462	T	0.0415920302382287	0.03980	T	0.735926	0.35246	T	0.059924174	0.12234	0.041797135	0.04833	0.059924174	0.12234	0.041797135	0.04833	-5.365	0.40582	T	.	.	0.117	0.31203	B	.;.;.;.	.;.;.;.	2.286894	0.29245	18.06	0.83463738485573846	0.14740	0.92895	0.56810	D	ALL	0.436401	0.49664	N	-0.656715504612448	0.17265	0.8869372	-0.520795385792772	0.21589	1.168597	1.0	0.98316	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.56214	0.19341	0	.	.	6.07	4.16	0.48138	0.476000	0.21890	4.272000	0.42850	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.467000	0.28274	0.1483:0.0:0.506:0.3457	4.534	0.11422	719	0.55657	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2543.43	39	chr1	45012913	.	G	C	2543.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.227;DP=506;ExcessHet=0;FS=1.214;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=1.8;SOR=0.813	GT:AD:DP:GQ:PL	0/1:68,104:172:99:2555,0,1592	9	0	1	0
chr1	54210066	54210066	T	C	exonic	MRPL37	.	nonsynonymous SNV	MRPL37:NM_001330602:exon4:c.T767C:p.F256S,MRPL37:NM_016491:exon4:c.T767C:p.F256S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0335022744679	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs773879342	1.3e-05	1.368e-05	1.089e-05	1.513e-05	2.698e-06	8.31e-06	6.7e-06	7.2e-07	2e-07	0	0	0	0	0.0003	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.002	0.79402	D	0.999	0.77913	D	0.97	0.72226	D	0.000021	0.62929	D	0.188597	1	0.81001	D	2.89	0.83701	M	2.15	0.19311	T	-4.78	0.80851	D	0.917	0.93252	-0.3742	0.72833	T	0.368	0.72803	T	10	0.82483566	0.81669	D	0.033502	0.55023	D	0.267	0.58126	0.73	0.86373	0.619976913611	0.61689	0.9353813624967855	0.93518	1.25690945348	0.81934	0.488486647606	0.37228	T	0.152742	0.67962	T	0.0884814	0.63018	D	-0.110679	0.62556	T	0.944587767124176	0.62090	D	0.913209	0.69058	D	0.8699025	0.88853	0.8484292	0.91399	0.8699025	0.88855	0.8484292	0.91399	-3.383	0.14829	T	.	.	0.533	0.69803	A	.;.;.	.;.;.	4.547758	0.71547	25.7	0.99876800846766478	0.95328	0.99068	0.90757	D	AEFBI	0.927426	0.91006	D	0.484303158431185	0.66174	4.916035	0.552483796250419	0.71569	5.675043	0.99999999835719	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	7.402000	0.79208	7.823000	0.69822	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.0:0.0:1.0	15.928	0.79419	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2294.43	35	chr1	54210066	.	T	C	2294.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.857;DP=524;ExcessHet=0;FS=1.053;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.636;SOR=0.598	GT:AD:DP:GQ:PL	0/1:118,98:216:99:2306,0,3082	9	0	1	0
chr1	59321646	59321646	C	G	exonic	FGGY	.	nonsynonymous SNV	FGGY:NM_001113411:exon2:c.C97G:p.L33V,FGGY:NM_001244714:exon2:c.C97G:p.L33V,FGGY:NM_001350790:exon2:c.C97G:p.L33V,FGGY:NM_001350791:exon2:c.C97G:p.L33V,FGGY:NM_001350794:exon2:c.C97G:p.L33V,FGGY:NM_001350795:exon2:c.C97G:p.L33V,FGGY:NM_018291:exon2:c.C97G:p.L33V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00658430892354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.10838	T	0.752	0.17014	T	0.0	0.02946	B	0.005	0.11217	B	0.001993	0.37503	N	0.179398	0.999998	0.08975	N	0.685	0.16464	N	0.42	0.56937	T	-0.05	0.08033	N	0.07	0.04307	-1.0723	0.08915	T	0.038	0.16333	T	9	0.07695553	0.12086	T	0.006584	0.17358	T	0.019	0.03383	0.439	0.49321	0.0884992946249	0.08302	0.374189757088041	0.37332	0.0261489626011	0.02673	0.3889118433	0.23516	T	0.004116	0.03978	T	-0.166569	0.25755	T	-0.477041	0.24761	T	0.0978046730160713	0.12114	T	0.883212	0.60517	D	0.04983651	0.08912	0.045236386	0.06042	0.04983651	0.08912	0.045236386	0.06042	-4.025	0.25555	T	.	.	0.105	0.21877	B	.;.;.;.;.	.;.;.;.;.	0.788807	0.11589	8.182	0.80252526562547799	0.13116	0.42979	0.26997	N	AEFBI	0.149720	0.27386	N	-0.910757218303322	0.10590	0.5067561	-0.809806032092984	0.14259	0.7440907	0.0261613837719064	0.13695	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.2	2.21	0.27042	1.326000	0.33341	1.726000	0.28294	-0.223000	0.07921	0.852000	0.30477	0.932000	0.28569	0.375000	0.26223	0.2363:0.3365:0.4273:0.0	9.099	0.35817	950	0.11238	.;Carbohydrate kinase, FGGY, N-terminal;.;Carbohydrate kinase, FGGY, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1648.43	33	chr1	59321646	.	C	G	1648.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.501;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.699;SOR=0.741	GT:AD:DP:GQ:PL	0/1:45,65:110:99:1660,0,1065	9	0	1	0
chr1	62450619	62450619	A	G	exonic	USP1	.	nonsynonymous SNV	USP1:NM_001017415:exon9:c.A1996G:p.I666V,USP1:NM_001017416:exon9:c.A1996G:p.I666V,USP1:NM_003368:exon9:c.A1996G:p.I666V	.	427	1043	51	1	0	53	0.0247779	.	.	.	2808940	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.294	0.00157778008887	0.0013	0.00219649	0.0030	0.0002	0.0023	0	0	0.0027	0.0044	0.0091	0.0028395	439	154602	rs141001844	0.0020	0.0020	0.0016	0.0023	0.0295	0.0019	0.0019	0.0259	0.0245	0.0006	0.0023	0.0191	0	9.368e-05	0.0295	0.0009	0.0041	0.0092	0.0024	0.0024	0.0022	0.0025	0.0070	0.0022	0.0021	0.0052	0.0045	0.0001	0.0899	0.0025	0.0204	0	0	0.0510	0.0015	0.0057	0.0070	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000008	0.62929	N	0.109127	0.863988	0.28312	N	-1.9	0.00240	N	2.78	0.11298	T	0.06	0.06253	N	0.027	0.00571	-0.9329	0.43710	T	0.009	0.03359	T	10	0.0028123558	0.00044	T	0.001578	0.02523	T	0.294	0.61388	.	.	0.043077524339	0.03247	0.12277180186797472	0.12203	0.0809128222663	0.09109	0.262857377529	0.05235	T	0.077786	0.35738	T	-0.735338	0.00022	T	-0.823065	0.01391	T	0.00143022983137073	0.00014	T	0.530047	0.17581	T	0.046241585	0.07707	0.059083413	0.11029	0.046241585	0.07707	0.059083413	0.11029	-2.613	0.06603	T	.	.	0.049	0.00112	B	.;.	.;.	-1.993868	0.00102	0.002	0.74274434919979704	0.10634	0.11600	0.16740	N	AEFDGBI	0.045861	0.07548	N	-1.10456425471422	0.06562	0.3023988	-0.932802013638722	0.11323	0.5761336	0.833729220619067	0.24739	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	-2.28	0.06438	0.242000	0.17862	-5.550000	0.01678	-2.134000	0.00380	0.612000	0.27847	0.000000	0.08366	0.824000	0.38829	0.2925:0.0:0.7075:0.0	12.722	0.56521	866	0.32446	Ubiquitin specific protease domain;Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021148	0.005051	0.025815	0.052632	0.050000	0.034483	0.012195	0.003788	0.05	1374.43	36	chr1	62450619	.	A	G	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.848;DP=438;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.027;SOR=0.906	GT:AD:DP:GQ:PL	0/1:68,60:128:99:1386,0,1758	9	0	1	0
chr1	67182913	67182913	G	A	exonic	IL23R	.	nonsynonymous SNV	IL23R:NM_144701:exon4:c.G445A:p.G149R	.	422	1094	5	1	0	7	0.00318907	.	.	.	1153674	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0031	0.0111821	0.0071	0.0012	0.0071	0.0512	0.0064	0.0037	0.0044	0.0016	0.0067852	1049	154602	rs76418789	0.0063	0.0063	0.0064	0.0062	0.0628	0.0062	0.0061	0.0608	0.0599	0.0007	0.0061	0.0002	0.0628	0.0053	0.0017	0.0049	0.0069	0.0029	0.0050	0.0050	0.0052	0.0047	0.0444	0.0047	0.0045	0.0397	0.0378	0.0005	0.0099	0.0034	0.0003	0.0444	0.0066	0	0.0052	0.0019	0.0027	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000099	0.51296	D	0.132706	0.999622	0.47904	D	2.815	0.81989	M	0.49	0.55775	T	-7.86	0.96085	D	0.921	0.92433	-0.3225	0.74352	T	0.318	0.68779	T	10	0.008963466	0.00203	T	.	.	.	0.331	0.65325	0.484	0.56621	0.857617907083	0.85624	0.9166954182914536	0.91644	0.759124871029	0.64150	0.523234724998	0.42081	T	0.692949	0.91089	D	-0.0737695	0.40724	T	0.176331	0.81784	D	0.0502850754697659	0.05550	T	0.864814	0.56255	D	0.8911355	0.90604	0.7783029	0.86925	0.8911355	0.90606	0.7783029	0.86926	-8.743	0.66027	D	.	.	0.512	0.65141	A	.	.	4.576904	0.72268	25.8	0.99937433696193656	0.99661	0.90198	0.51187	D	AEFBI	0.625136	0.60845	D	0.755388666411983	0.83254	7.969833	0.693267314173342	0.81867	7.628266	0.0233105093093452	0.13497	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	5.262000	0.65319	11.767000	0.95766	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.0:0.0:1.0:0.0	14.342	0.66193	592	0.68746	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	1482.43	37	chr1	67182913	.	G	A	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.372;SOR=0.732	GT:AD:DP:GQ:PL	0/1:75,60:135:99:1494,0,1865	9	0	1	0
chr1	68494608	68494608	C	A	exonic	DEPDC1	.	nonsynonymous SNV	DEPDC1:NM_001114120:exon2:c.G136T:p.A46S,DEPDC1:NM_017779:exon2:c.G136T:p.A46S	.	639	880	2	1	0	4	0.00226757	.	.	.	3237109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.293	0.0264316345784	.	.	4.958e-05	0	0	0	0	4.503e-05	0	0.0002	4.53e-05	7	154602	rs776724301	8.142e-05	8.14e-05	5.991e-05	0.0001	0.0007	6.936e-05	6.488e-05	0.0004	0.0004	0	6.709e-05	0	0	0	0.0007	5.577e-05	4.97e-05	0.0005	3.939e-05	3.937e-05	3.854e-05	4.027e-05	0.0004	1.714e-05	1.129e-05	7.285e-05	3.027e-05	0	0	6.533e-05	0	0	0	0.0034	2.94e-05	0	0.0004	0.083	0.40068	T	0.009	0.66756	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	2.43	0.15261	T	-1.92	0.44657	N	0.815	0.81957	-1.0404	0.17192	T	0.107	0.38931	T	9	0.79532504	0.79018	D	0.026432	0.49337	D	0.293	0.61272	0.651	0.78858	0.528761452848	0.52524	0.736500165403895	0.73595	0.367955838784	0.38357	0.662032604218	0.61700	T	0.061151	0.31577	T	-0.125394	0.32243	T	-0.0816368	0.64784	T	0.22222497710162	0.21574	T	0.922208	0.71716	D	0.2117917	0.43513	0.22816494	0.47849	0.2117917	0.43513	0.22816494	0.47848	-6.308	0.50739	T	.	.	0.363	0.57374	A	.;.	.;.	4.796083	0.77887	26.8	0.99749997232558008	0.84152	0.98318	0.81579	D	AEFBI	0.911525	0.87091	D	0.83308675803367	0.88124	9.462367	0.812675261951308	0.90662	10.50972	0.999999999999994	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.58	5.58	0.84361	7.506000	0.80535	7.635000	0.62917	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.152	0.93478	946	0.12043	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	1	0	0	0	0	0	0	0	0	0	0	0.001043	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.003876	0.05	1457.43	33	chr1	68494608	.	C	A	1457.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.026;DP=429;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.44;MQRankSum=0.008;QD=12.46;ReadPosRankSum=-0.584;SOR=0.779	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1469,0,1349	9	0	1	0
chr1	75728443	75728443	A	G	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_000016:exon2:c.A73G:p.T25A,ACADM:NM_001127328:exon2:c.A85G:p.T29A,ACADM:NM_001286043:exon2:c.A73G:p.T25A	Acyl-CoA dehydrogenase, medium chain, deficiency of, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.0904751449671	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.19225	T	0.52	0.18789	T	0.001	0.07471	B	0.001	0.04355	B	0.002787	0.35935	N	0.267587	1	0.81001	D	0.895	0.22405	L	-4.32	0.97267	D	-1.48	0.36189	N	0.498	0.54584	-0.0973	0.80160	T	0.579	0.84831	D	10	0.23983172	0.41130	T	0.090475	0.75526	D	0.424	0.73226	0.224	0.14813	0.87496722109	0.87374	0.4380577905867984	0.43722	0.18191146158	0.20451	0.414616405964	0.27095	T	0.462412	0.79878	T	0.147706	0.69053	D	-0.0256066	0.68660	D	0.322697758674622	0.25931	T	0.617538	0.23835	T	0.044340022	0.07070	0.05143414	0.08275	0.044340022	0.07070	0.05143414	0.08274	-4.437	0.30055	T	.	.	0.064	0.05145	B	.;.;.	.;.;.	2.405391	0.30907	18.58	0.94935580446929924	0.25824	0.81605	0.40975	D	AEFGBI	0.673238	0.63936	D	-0.376038653303992	0.26326	1.435891	-0.179927010198185	0.32276	1.834617	0.99999687909066	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.35	4.2	0.48814	2.866000	0.48119	6.635000	0.56164	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.8521:0.0:0.0:0.1479	10.232	0.42437	765	0.49814	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	971.43	34	chr1	75728443	.	A	G	971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=433;ExcessHet=0;FS=1.718;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.56;SOR=0.601	GT:AD:DP:GQ:PL	0/1:48,41:89:99:983,0,1097	9	0	1	0
chr1	76868678	76868678	A	G	exonic	ST6GALNAC5	.	nonsynonymous SNV	ST6GALNAC5:NM_001320273:exon2:c.A197G:p.Q66R,ST6GALNAC5:NM_001320274:exon2:c.A197G:p.Q66R,ST6GALNAC5:NM_030965:exon2:c.A197G:p.Q66R	.	376	1129	16	1	0	18	0.00790861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0005	0.00219649	0.0050	0.0007	0.0027	0	0	0.0018	0	0.0111	0.0013971	216	154602	rs143010807	0.0016	0.0016	0.0013	0.0018	0.0208	0.0015	0.0015	0.0178	0.0166	0.0011	0.0019	0.0009	5.453e-05	0.0001	0.0208	0.0011	0.0021	0.0088	0.0015	0.0015	0.0014	0.0016	0.0098	0.0013	0.0013	0.0075	0.0068	0.0003	0	0.0023	0.0014	0.0002	0.0002	0.0171	0.0017	0.0024	0.0098	0.818	0.02974	T	0.592	0.08161	T	0.0	0.02946	B	0.001	0.04355	B	0.879119	0.07224	N	1.058050	0.999999	0.08975	N	0.69	0.16971	N	1.8	0.25344	T	-0.09	0.08340	N	0.072	0.04547	-0.9746	0.36213	T	0.017	0.06902	T	10	0.0040742457	0.00080	T	.	.	.	0.040	0.10527	.	.	0.0675242888579	0.06100	0.24362056139935523	0.24276	0.365251766803	0.38123	0.643308639526	0.59035	T	0.003651	0.03060	T	-0.709402	0.00032	T	-0.786375	0.02266	T	0.000591769945659934	0.00005	T	0.256074	0.03980	T	0.051826894	0.09575	0.068529576	0.14323	0.051826894	0.09575	0.068529576	0.14323	-3.171	0.12129	T	.	.	0.066	0.02285	B	.	.	1.920179	0.24388	16.38	0.5886146095808017	0.06090	0.23561	0.22116	N	AEFDBCIJ	0.114398	0.22533	N	-0.864118029501418	0.11704	0.5662958	-0.793534210565514	0.14654	0.7667593	0.999976067596103	0.50053	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.37	2.33	0.27981	0.765000	0.26211	3.148000	0.36512	-0.260000	0.06918	0.339000	0.25666	0.999000	0.35428	0.897000	0.43391	0.5458:0.3315:0.1227:0.0	8.102	0.30022	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029474	0.005208	0.037088	0.071429	0.050000	0.045455	0.012346	0.015152	0.05	266.43	39	chr1	76868678	.	A	G	266.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.341;DP=318;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=1.89;SOR=0.722	GT:AD:DP:GQ:PL	0/1:20,12:32:99:278,0,646	9	0	1	0
chr1	77741401	77741401	C	T	exonic	USP33	.	nonsynonymous SNV	USP33:NM_001377431:exon3:c.G110A:p.G37E,USP33:NM_001377434:exon3:c.G110A:p.G37E,USP33:NM_001377435:exon3:c.G110A:p.G37E,USP33:NM_001377436:exon3:c.G110A:p.G37E,USP33:NM_001377437:exon3:c.G110A:p.G37E,USP33:NM_201624:exon3:c.G110A:p.G37E,USP33:NM_001377430:exon4:c.G203A:p.G68E,USP33:NM_001377432:exon4:c.G203A:p.G68E,USP33:NM_001377433:exon4:c.G203A:p.G68E,USP33:NM_015017:exon4:c.G203A:p.G68E,USP33:NM_201626:exon4:c.G203A:p.G68E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0203241325672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.01	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.45	0.71042	M	0.89	0.45636	T	-3.76	0.91353	D	0.391	0.46928	-0.9623	0.38742	T	0.156	0.48841	T	10	0.84443444	0.83606	D	0.020324	0.42890	T	0.391	0.70684	0.766	0.89373	0.625240302323	0.62219	0.8967375538010217	0.89644	1.95920376204	0.93432	0.828889548779	0.86393	D	0.177378	0.52765	T	0.257262	0.79276	D	0.131763	0.79007	D	0.997024714946747	0.90598	D	0.970303	0.89869	D	0.5803117	0.71625	0.5741674	0.75334	0.5803117	0.71627	0.5741674	0.75334	-11.862	0.84172	D	.	.	0.978	0.93507	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.194051	0.87119	29.1	0.99760784347232867	0.85011	0.98524	0.83701	D	AEFGBI	0.706107	0.66127	D	0.711212733275138	0.80369	7.27876	0.688655926290875	0.81517	7.545253	0.999792592724356	0.43153	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.08	4.16	0.48138	4.873000	0.62751	7.552000	0.60294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9184:0.0:0.0816	12.004	0.52543	773	0.48803	.;Zinc finger, UBP-type|Zinc finger, UBP-type|Zinc finger, UBP-type;Zinc finger, UBP-type|Zinc finger, UBP-type|Zinc finger, UBP-type;.;Zinc finger, UBP-type|Zinc finger, UBP-type|Zinc finger, UBP-type;Zinc finger, UBP-type|Zinc finger, UBP-type|Zinc finger, UBP-type;Zinc finger, UBP-type|Zinc finger, UBP-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	694.43	33	chr1	77741401	.	C	T	694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.692;DP=355;ExcessHet=0;FS=2.415;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-1.028;SOR=1.161	GT:AD:DP:GQ:PL	0/1:24,28:52:99:706,0,659	9	0	1	0
chr1	78492766	78492766	A	T	exonic	PTGFR	.	nonsynonymous SNV	PTGFR:NM_000959:exon2:c.A23T:p.Q8L,PTGFR:NM_001039585:exon2:c.A23T:p.Q8L	.	432	1070	20	0	0	20	0.00925926	.	.	.	719090	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0041	0.00738818	0.0059	0.0006	0.0031	0.0013	0.0009	0.0046	0.0102	0.0224	0.0056079	867	154602	rs41292960	0.0051	0.0051	0.0046	0.0056	0.0191	0.0050	0.0050	0.0183	0.0180	0.0005	0.0042	0.0023	0.0025	0.0010	0.0158	0.0044	0.0057	0.0191	0.0041	0.0041	0.0038	0.0043	0.0205	0.0038	0.0037	0.0172	0.0160	0.0008	0	0.0067	0.0023	0.0017	0.0013	0.0170	0.0048	0.0090	0.0205	0.05	0.39575	D	0.164	0.45961	T	0.0	0.07471	B	0.0	0.08700	B	0.018422	0.27485	N	0.385314	0.622299	0.30769	N	1.1	0.28011	L	-2.53	0.89430	D	-1.34	0.33998	N	0.122	0.21969	-0.7105	0.59928	T	0.300	0.67166	T	10	0.003374815	0.00059	T	.	.	.	0.181	0.45247	.	.	0.419120893867	0.41530	0.47915917809288416	0.47835	0.209392805901	0.23407	0.331329494715	0.15136	T	0.170723	0.51857	T	-0.309677	0.07777	T	-0.20267	0.54392	T	0.0158607068693178	0.00372	T	0.659534	0.26859	T	0.096999705	0.22858	0.11808839	0.28506	0.096999705	0.22857	0.11808839	0.28505	-2.188	0.04441	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.602499	0.33784	19.44	0.98998694768417228	0.50106	0.75837	0.37153	D	AEFBIJ	0.174670	0.30181	N	-0.189002705709389	0.33591	1.907492	-0.00394887460488699	0.39536	2.345695	0.999976573831492	0.50053	0.549168	0.22868	0	0.563428	0.19063	0	0.563428	0.18855	0	0.616125	0.45549	0	.	.	5.55	4.35	0.51454	3.044000	0.49520	6.687000	0.56329	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.6324:0.2477:0.0:0.1199	6.821	0.23038	280	0.88949	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.014099	0.000000	0.014946	0.008772	0.000000	0.000000	0.021341	0.011364	0.05	1347.43	39	chr1	78492766	.	A	T	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.812;DP=432;ExcessHet=0;FS=1.599;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.395;SOR=0.534	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1359,0,1693	9	0	1	0
chr1	84414641	84414641	A	C	exonic	DNASE2B	.	nonsynonymous SNV	DNASE2B:NM_058248:exon4:c.A235C:p.N79H,DNASE2B:NM_021233:exon6:c.A859C:p.N287H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.0393029055031	.	.	8.25e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs766038489	5.473e-06	5.472e-06	6.806e-06	4.125e-06	1.159e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.405	0.91733	M	2.4	0.15608	T	-4.46	0.78891	D	0.941	0.94904	-0.7618	0.57307	T	0.128	0.43666	T	10	0.96709734	0.96215	D	0.039303	0.58733	D	0.527	0.80007	0.85	0.95202	0.747807528701	0.74553	0.7214464417065364	0.72088	0.439334003021	0.43960	0.573755383492	0.49208	T	0.325	0.69539	T	-0.0981367	0.36733	T	-0.281889	0.46610	T	0.985913097858429	0.76772	D	0.840116	0.51512	T	0.9117735	0.92460	0.8580931	0.92050	0.9117735	0.92461	0.8580931	0.92050	-5.772	0.44330	T	.	.	0.444	0.61927	A	.;.	.;.	4.377972	0.67463	25.1	0.99699736739534539	0.80522	0.98950	0.89059	D	AEFBI	0.914523	0.87801	D	0.925805053674758	0.92965	11.73736	0.855725473849936	0.93346	11.98225	0.999956065129009	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	5.28	5.28	0.74118	8.361000	0.89995	10.854000	0.83952	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	15.361	0.74183	513	0.74941	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1433.43	35	chr1	84414641	.	A	C	1433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.88;DP=420;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.209;SOR=0.569	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1445,0,1417	9	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1448.14	72	chr1	85158757	.	C	G	1448.14	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.334;DP=723;ExcessHet=15.1594;FS=160.488;InbreedingCoeff=-0.8658;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.981;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,19:65:99:.:.:282,0,1020:.	3	0	7	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	4548.25	276	chr1	86580219	.	ACCTACT	*	4548.25	.	AC=14;AF=0.7;AN=20;BaseQRankSum=-0.525;DP=2733;ExcessHet=2.8389;FS=1.255;InbreedingCoeff=-0.3333;MLEAC=14;MLEAF=0.7;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.846;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,247:249:99:1|1:86580213_TCCTACA_T:12374,830,0:86580213	1	5	4	0
chr1	92184133	92184133	C	G	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon7:c.C3643G:p.L1215V,BTBD8:NM_001376131:exon18:c.C5182G:p.L1728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0190780032136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.146e-07	6.84e-07	1.41e-06	0	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999529	0.47407	D	.	.	.	.	.	.	.	.	.	.	.	-1.0856	0.06298	T	0.064	0.26385	T	10	0.3291154	0.50170	T	0.019078	0.41344	T	0.218	0.51265	0.252	0.19067	0.151104730317	0.14643	0.20956648700883299	0.20872	.	.	0.679211735725	0.64156	T	0.11897	0.44016	T	0.0119849	0.53297	T	-0.220561	0.52683	T	0.91614294052124	0.57345	D	0.916508	0.70155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.67276	A	.;.;.;.	.;.;.;.	3.542683	0.49765	22.8	0.99658142899018609	0.77757	0.95026	0.63168	D	AEFGBI	0.589776	0.58653	D	0.601594218466537	0.73274	5.939652	0.557650617828793	0.71931	5.730668	0.997342182401955	0.35520	0.554377	0.28877	0	0.486142	0.07564	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.58	4.62	0.56946	3.813000	0.55340	4.099000	0.41853	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.7926:0.0:0.2074	7.677	0.27655	732	0.54084	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2187.43	42	chr1	92184133	.	C	G	2187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.478;DP=516;ExcessHet=0;FS=0.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.258;SOR=0.627	GT:AD:DP:GQ:PL	0/1:85,86:171:99:2199,0,2327	9	0	1	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1070.13	151	chr1	99884400	.	T	C	1070.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.868;DP=818;ExcessHet=2.8389;FS=160.887;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.31;ReadPosRankSum=1.64;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,26:101:99:0|1:99884398_T_C:438,0,1864:99884398	5	0	5	0
chr1	109261233	109261233	C	T	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon3:c.C4150T:p.R1384C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.263420497756	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286591349	5.474e-06	5.472e-06	4.085e-06	6.877e-06	2.519e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.295e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	3.19	0.88972	M	-1.31	0.79666	T	-6.74	0.92648	D	0.797	0.79310	0.586	0.91707	D	0.708	0.89947	D	9	0.8935499	0.88703	D	0.26342	0.89598	D	0.807	0.93738	0.626	0.76141	0.813029694999	0.81127	0.8270530484759968	0.82663	1.38724322197	0.84908	0.78561848402	0.79777	T	0.606744	0.87477	D	0.260175	0.79545	D	0.135947	0.79280	D	0.998726665973663	0.94977	D	0.996975	0.98834	D	0.56502247	0.70787	0.46344954	0.68853	0.56502247	0.70788	0.46344954	0.68853	-12.973	0.89252	D	0.7625660922923794	0.84425	0.868	0.80786	P	.	.	5.803324	0.93624	33	0.99946650814083626	0.99913	0.96307	0.68501	D	AEFDBCI	0.856016	0.77321	D	0.831004731247185	0.88001	9.417388	0.752227329716701	0.86324	8.85252	0.999999983947827	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.77	4.77	0.60425	5.936000	0.69869	4.935000	0.46163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.993	0.89096	785	0.46916	Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1665.43	33	chr1	109261233	.	C	T	1665.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=462;ExcessHet=0;FS=1.29;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.582;SOR=0.575	GT:AD:DP:GQ:PL	0/1:83,70:153:99:1677,0,1912	9	0	1	0
chr1	109621124	109621124	C	G	exonic	AMPD2	.	nonsynonymous SNV	AMPD2:NM_001308170:exon1:c.C17G:p.A6G	Pontocerebellar hypoplasia, type 9, Autosomal recessive	411	1102	8	1	0	10	0.00451671	.	.	.	690324	Hereditary_spastic_paraplegia_63|Pontocerebellar_hypoplasia_type_9|not_provided	MONDO:MONDO:0014305,MedGen:C3810295,OMIM:615686,Orphanet:401805|MONDO:MONDO:0014351,MedGen:C4014354,OMIM:615809,Orphanet:369920|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.036	0.647434471807	.	0.000798722	0.0012	0	0.0003	0	0	8.212e-05	0	0.0060	0.0006533	101	154602	rs570541266	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0	2.29e-05	0	5.154e-05	0	0.0004	3.349e-05	0.0004	0.0050	0.0002	0.0002	0.0001	0.0002	0.0044	0.0001	9.7e-05	0.0029	0.0025	0	0	0	0	0	0	0	5.882e-05	0	0.0044	0.974	0.02034	T	0.568	0.08870	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999541	0.47497	D	.	.	.	-2.03	0.85613	D	-0.16	0.09460	N	0.279	0.31590	-1.0043	0.28666	T	0.102	0.37694	T	7	0.005859673	0.00131	T	0.647434	0.97009	D	0.157	0.40909	0.148	0.05138	0.658416286431	0.65555	.	.	.	.	.	.	.	.	.	.	-0.23072	0.16555	T	-0.102547	0.63201	T	0.0155271133238361	0.00352	T	0.49655	0.15423	T	.	.	.	.	.	.	.	.	-3.355	0.14457	T	.	.	0.080	0.07937	B	.	.	2.123303	0.27030	17.32	0.82919572938239627	0.14445	0.07285	0.13308	N	ALL	0.022525	0.01136	N	-0.310894542526896	0.28732	1.58731	-0.372469697760626	0.25820	1.422366	0.999999999999989	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	3.81	0.29	0.14978	-0.115000	0.10713	0.424000	0.18252	0.549000	0.26987	0.001000	0.13787	0.997000	0.33255	0.984000	0.60418	0.0:0.416:0.4695:0.1145	6.662	0.22211	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	814.43	33	chr1	109621124	.	C	G	814.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.229;DP=369;ExcessHet=0;FS=5.884;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=1.02;SOR=0.214	GT:AD:DP:GQ:PL	0/1:22,33:55:99:826,0,576	9	0	1	0
chr1	110112994	110112994	G	A	exonic	UBL4B	.	nonsynonymous SNV	UBL4B:NM_203412:exon1:c.G460A:p.A154T	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0025	0.00359425	0.0011	0.0123	0.0005	0	0	4.122e-05	0	8.681e-05	0.0008603	133	154602	rs140174144	0.0003	0.0003	0.0004	0.0003	0.0110	0.0003	0.0003	0.0100	0.0097	0.0110	0.0008	0	0	0	0.0005	1.803e-05	0.0010	9.398e-05	0.0029	0.0029	0.0030	0.0029	0.0096	0.0027	0.0026	0.0088	0.0085	0.0096	0	0.0029	0	0	0	0	1.47e-05	0.0024	0	0.011	0.55530	D	0.044	0.49663	D	0.734	0.42776	P	0.243	0.38752	B	0.302349	0.03962	U	1.577180	1	0.08975	N	1.445	0.36358	L	.	.	.	-0.49	0.15578	N	0.115	0.10340	-1.0100	0.26917	T	0.053	0.22539	T	9	0.0034535825	0.00061	T	.	.	.	0.078	0.22779	.	.	0.259761712551	0.25597	0.06295684546142372	0.06234	0.136686896134	0.15421	0.243465900421	0.03111	T	0.024039	0.18239	T	-0.525145	0.00410	T	-0.519149	0.20381	T	0.0213969687791669	0.00842	T	0.371663	0.08799	T	0.07460351	0.16754	0.13777359	0.32923	0.07460351	0.16754	0.13777359	0.32922	-4.246	0.27412	T	.	.	0.075	0.05711	B	.	.	1.712391	0.21803	15.36	0.96059001699027491	0.28588	0.27395	0.23265	N	AEFGBHCI	0.048161	0.08190	N	-0.419603215364067	0.24781	1.340587	-0.561480721751342	0.20501	1.104844	0.989185021057756	0.31747	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.75	2.75	0.31439	2.427000	0.44397	2.570000	0.33360	0.618000	0.50648	0.048000	0.21332	0.917000	0.28245	0.003000	0.05239	0.0:0.0:1.0:0.0	11.331	0.48714	370	0.84343	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	794.43	35	chr1	110112994	.	G	A	794.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.584;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.255;SOR=0.61	GT:AD:DP:GQ:PL	0/1:24,35:59:99:806,0,608	9	0	1	0
chr1	110223499	110223499	T	C	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.T1214C:p.I405T,KCNC4:NM_001377330:exon2:c.T1214C:p.I405T,KCNC4:NM_004978:exon2:c.T1214C:p.I405T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	0.302057152959	.	.	8.286e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs750297898	6.842e-06	7.524e-06	9.53e-06	4.126e-06	2.987e-05	3.46e-06	2.52e-06	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	4.496e-06	3.312e-05	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.061	0.37118	T	0.052	0.47581	T	0.985	0.61118	D	0.756	0.56253	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.08	0.27187	L	-4.85	0.98245	D	-3.71	0.70674	D	0.87	0.86725	1.083	0.98984	D	0.922	0.97415	D	10	0.8524344	0.84427	D	0.302057	0.90915	D	0.863	0.95839	0.472	0.54699	0.999911786721	0.99991	0.8946391373405372	0.89434	2.43584855541	0.97295	0.89025914669	0.95293	D	0.638008	0.88863	D	0.458681	0.92866	D	0.421087	0.92777	D	0.982883274555206	0.74762	D	0.944706	0.79020	D	0.39695436	0.60521	0.35028428	0.60640	0.39695436	0.60521	0.35028428	0.60640	-8.082	0.61919	D	.	.	0.572	0.67711	P	.;.;.	.;.;.	4.760786	0.76968	26.6	0.99750778316777111	0.84228	0.97431	0.74706	D	AEFGBI	0.856770	0.77405	D	0.530028039053655	0.68875	5.277657	0.5477744271187	0.71244	5.625155	0.9999999797738	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	4.93	4.93	0.64394	8.017000	0.88732	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.0:1.0	14.861	0.70017	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3053.43	37	chr1	110223499	.	T	C	3053.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.241;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.386;SOR=0.694	GT:AD:DP:GQ:PL	0/1:143,108:251:99:3065,0,4331	9	0	1	0
chr1	110518708	110518708	C	T	exonic	KCNA10	.	nonsynonymous SNV	KCNA10:NM_005549:exon1:c.G80A:p.G27D	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	.	0.0081	0.00878594	0.0026	0.0279	0.0014	0	0	7.974e-05	0.0012	0	0.002335	361	154602	rs115598075	0.0008	0.0008	0.0009	0.0007	0.0228	0.0008	0.0007	0.0215	0.0209	0.0228	0.0019	0	0	0	0.0019	0.0002	0.0013	0	0.0070	0.0070	0.0073	0.0067	0.0240	0.0066	0.0065	0.0228	0.0223	0.0240	0	0.0027	0	0	0	0	0.0002	0.0061	0	0.014	0.53172	D	0.442	0.13252	T	0.001	0.07471	B	0.002	0.06944	B	0.537747	0.05295	N	1.257310	0.837341	0.28678	N	1.01	0.25309	L	-4.18	0.96882	D	-1.15	0.29525	N	0.197	0.21710	-0.4350	0.70897	T	0.527	0.82385	D	10	0.005542755	0.00122	T	.	.	.	0.260	0.57221	.	.	0.58115309548	0.57786	0.17914753881455575	0.17833	0.0412586449432	0.04428	0.376091957092	0.21702	T	0.06909	0.33623	T	-0.352471	0.04573	T	-0.260152	0.48809	T	0.00467385380938013	0.00050	T	0.518548	0.16835	T	0.086403124	0.20082	0.0790709	0.17769	0.086403124	0.20082	0.0790709	0.17769	-2.973	0.09893	T	.	.	0.077	0.06341	B	.	.	1.188891	0.15801	12.11	0.97355296653308143	0.33544	0.59379	0.30899	D	AEFBI	0.199721	0.32650	N	-0.553128617459778	0.20385	1.074267	-0.431292337405844	0.24084	1.316911	4.28745433579627E-4	0.06935	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	1.51	0.22094	1.603000	0.36404	0.389000	0.17868	-0.234000	0.07639	0.043000	0.21118	0.006000	0.19429	0.652000	0.32748	0.1327:0.4679:0.2572:0.1421	3.149	0.06093	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.010101	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1611.43	38	chr1	110518708	.	C	T	1611.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.794;DP=481;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-1.154;SOR=0.727	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1623,0,1768	9	0	1	0
chr1	111414961	111414961	A	0	exonic	OVGP1	.	.	.	.	423	578	414	100	7	621	0.346893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1571.06	110	chr1	111414961	.	A	*	1571.06	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.5;DP=805;ExcessHet=0.2065;FS=0.523;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=2.12;SOR=0.756	GT:AD:DP:GQ:PL	1/0:2,43:92:99:3441,1585,1864	6	0	4	0
chr1	111414970	111414970	A	0	exonic	OVGP1	.	.	.	.	427	574	414	100	7	621	0.348468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1837.02	110	chr1	111414970	.	A	*	1837.02	.	AC=4;AF=0.2;AN=20;DP=807;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;QD=4.32;SOR=0.707	GT:AD:DP:GQ:PL	1/0:0,43:91:99:4094,1989,1840	6	0	4	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2536.04	155	chr1	114732648	.	C	G	2536.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.921;DP=1438;ExcessHet=22.563;FS=272.517;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=1.34;SOR=12.553	GT:AD:DP:GQ:PL	0/1:90,39:147:99:148,0,1323	0	0	10	0
chr1	116128208	116128208	G	A	exonic	MAB21L3	.	nonsynonymous SNV	MAB21L3:NM_152367:exon6:c.G724A:p.E242K	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.0206339754138	.	.	3.296e-05	0	0	0	0	5.997e-05	0	0	2.59e-05	4	154602	rs750057560	2.257e-05	2.257e-05	2.45e-05	2.063e-05	0.0005	1.61e-05	1.416e-05	0.0001	7.541e-05	0	0	0	2.519e-05	3.744e-05	0.0005	2.338e-05	1.656e-05	0	4.599e-05	4.597e-05	2.569e-05	6.725e-05	8.819e-05	2.109e-05	1.527e-05	3.761e-05	2.575e-05	0	0	0	0	0	9.411e-05	0	8.819e-05	0	0	0.016	0.51853	D	0.083	0.41405	T	0.032	0.20242	B	0.042	0.24114	B	0.000107	0.50451	D	0.084915	0.999966	0.52935	D	2.77	0.80896	M	1.96	0.22270	T	-3.09	0.63438	D	0.975	0.98563	-1.0632	0.10974	T	0.058	0.24502	T	10	0.97793424	0.97646	D	0.020634	0.43263	T	0.438	0.74235	0.933	0.98990	0.601095518603	0.59790	0.8815122705563192	0.88119	0.0980872584222	0.11074	0.480538368225	0.36131	T	0.329143	0.69947	T	0.078338	0.61846	D	0.0723937	0.75071	D	0.624193251132965	0.37378	D	0.877412	0.59112	D	0.40104905	0.60805	0.3264293	0.58549	0.40104905	0.60805	0.3264293	0.58549	-5.304	0.39983	T	.	.	0.300	0.52961	B	.	.	4.104975	0.61238	24.3	0.99823351733040722	0.90590	0.98327	0.81666	D	AEFBI	0.853742	0.77073	D	0.273958361509996	0.54832	3.647978	0.37971967614089	0.60314	4.217784	0.999997846002496	0.74766	0.497415	0.19182	0	0.546412	0.12157	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	7.565000	0.81337	9.982000	0.82930	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	19.167	0.93547	881	0.29269	Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1602.43	33	chr1	116128208	.	G	A	1602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=467;ExcessHet=0;FS=4.449;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.589;SOR=0.537	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1614,0,1276	9	0	1	0
chr1	117076755	117076755	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon7:c.C1505G:p.P502R	.	423	1087	9	3	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0546821588281	0.0008	0.000798722	0.0006	9.61e-05	0.0004	0	0.0002	0.0009	0.0022	6.089e-05	0.0005563	86	154602	rs142460316	0.0009	0.0009	0.0009	0.0009	0.0017	0.0009	0.0009	0.0010	0.0010	0.0003	0.0007	0.0007	0	0.0001	0.0017	0.0011	0.0012	0.0002	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0009	0	0	0.0002	0	0.0011	0.0019	0.0004	0.026	0.46910	D	0.032	0.53426	D	0.684	0.41517	P	0.209	0.37260	B	0.048019	0.23291	N	0.219801	1	0.08975	N	2.05	0.56469	M	-2.22	0.87038	D	-2.38	0.52451	N	0.368	0.40963	-0.3139	0.74595	T	0.531	0.82583	D	10	0.018920392	0.00416	T	0.054682	0.65950	D	0.247	0.55478	.	.	0.820817334265	0.81912	0.41558741462957033	0.41474	0.199913314117	0.22393	0.28744751215	0.08552	T	0.029907	0.21320	T	-0.28428	0.10218	T	-0.231566	0.51621	T	0.00934911947987783	0.00119	T	0.329867	0.06895	T	0.09596712	0.22596	0.06615327	0.13510	0.09596712	0.22596	0.06615327	0.13510	-6.046	0.46662	T	.	.	0.085	0.10256	B	.	.	1.364117	0.17734	13.34	0.9849430273230676	0.42132	0.19087	0.20522	N	AEFBI	0.051833	0.09196	N	-0.289949994759726	0.29536	1.638753	-0.443235559324899	0.23742	1.296302	0.913130403057434	0.26414	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.93	3.01	0.33872	1.252000	0.32476	0.114000	0.14823	-0.176000	0.10722	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.1584:0.6772:0.0:0.1644	5.531	0.16273	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	0.002518	0.005051	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	1421.43	38	chr1	117076755	.	C	G	1421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.417;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.009;SOR=0.728	GT:AD:DP:GQ:PL	0/1:72,66:138:99:1433,0,1792	9	0	1	0
chr1	117623641	117623641	C	T	exonic	TENT5C	.	nonsynonymous SNV	TENT5C:NM_017709:exon2:c.C773T:p.T258I	.	420	1101	1	0	0	1	0.000453926	.	.	.	137969	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.013	0.00399986456325	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs587778306	1.71e-05	1.71e-05	1.497e-05	1.925e-05	0.0004	1.174e-05	9.92e-06	0.0003	0.0002	0.0004	4.472e-05	0	0	0	0	0	0.0001	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.078	0.42261	T	0.017	0.17573	B	0.028	0.21332	B	0.423250	0.12842	N	0.725554	0.801782	0.29106	N	.	.	.	1.97	0.22067	T	-1.01	0.26639	N	0.054	0.02559	-1.0436	0.16236	T	0.017	0.07092	T	10	0.10252601	0.18796	T	0.004	0.09493	T	0.013	0.01715	0.407	0.44066	0.123314135267	0.11883	0.41507378258615785	0.41423	0.625271187301	0.56708	0.42029517889	0.27877	T	0.023835	0.18124	T	-0.377326	0.03238	T	-0.582807	0.14295	T	0.125313431024551	0.14942	T	0.875013	0.58582	D	0.1335313	0.31056	0.13290815	0.31882	0.1335313	0.31056	0.13290815	0.31881	-5.281	0.39754	T	.	.	0.111	0.21616	B	.	.	3.061137	0.41109	21.3	0.99154400916757435	0.53903	0.76765	0.37676	D	AEFDGBCI	0.259641	0.37794	N	-0.0918224845173871	0.37750	2.20083	0.103430443372737	0.44723	2.748624	0.999999998920901	0.74766	0.625279	0.40028	0	0.60822	0.50512	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.71	4.8	0.61157	2.416000	0.44298	3.356000	0.37822	-0.176000	0.10722	0.979000	0.35152	0.995000	0.32472	0.973000	0.55318	0.0:0.8545:0.0:0.1455	9.620	0.38881	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2766.43	34	chr1	117623641	.	C	T	2766.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.619;DP=545;ExcessHet=0;FS=5.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.625;SOR=0.642	GT:AD:DP:GQ:PL	0/1:99,104:203:99:2778,0,2575	9	0	1	0
chr1	119383022	119383022	T	A	exonic	HAO2	.	nonsynonymous SNV	HAO2:NM_016527:exon3:c.T239A:p.F80Y,HAO2:NM_001005783:exon4:c.T278A:p.F93Y,HAO2:NM_001377472:exon4:c.T278A:p.F93Y	.	433	1055	32	2	0	36	0.0167754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0221846542679	0.0015	0.00119808	0.0023	0.0009	0.0026	0	0	0.0028	0.0036	0.0025	0.0020763	321	154602	rs41306185	0.0019	0.0019	0.0018	0.0020	0.0170	0.0018	0.0018	0.0143	0.0133	0.0006	0.0022	0.0010	0	0.0004	0.0170	0.0019	0.0025	0.0026	0.0016	0.0016	0.0018	0.0014	0.0024	0.0014	0.0014	0.0021	0.0019	0.0007	0	0.0018	0.0009	0	9.418e-05	0.0170	0.0024	0.0052	0.0021	0.013	0.53900	D	0.109	0.37449	T	0.186	0.29254	B	0.274	0.40037	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.28	0.32218	L	1.56	0.29602	T	-1.68	0.40082	N	0.66	0.71055	-1.0737	0.08619	T	0.046	0.19800	T	9	0.020435303	0.00471	T	0.022185	0.45053	T	0.174	0.44019	.	.	0.184867976434	0.18130	0.7442278364771182	0.74368	0.148931395982	0.16796	0.553254902363	0.46316	T	0.016884	0.39789	T	-0.371119	0.03538	T	-0.31079	0.43573	T	0.0347134229547542	0.02759	T	0.940406	0.77539	D	0.4336018	0.62987	0.30213737	0.56246	0.4336018	0.62988	0.30213737	0.56245	-4.546	0.31486	T	.	.	0.205	0.43032	B	.;.;.;.	.;.;.;.	3.012749	0.40293	21.1	0.98698266928499656	0.44866	0.98959	0.89186	D	AEFBI	0.970689	0.99290	D	0.044259173628731	0.43878	2.672305	0.151712515987709	0.47231	2.956636	0.99940961548204	0.39524	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.565000	0.81337	6.039000	0.52998	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.068000	0.16518	0.0:0.0:0.0:1.0	15.668	0.77002	770	0.49152	FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;.;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.025253	0.020380	0.008772	0.000000	0.017241	0.024390	0.007576	0.05	1213.43	36	chr1	119383022	.	T	A	1213.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.903;DP=413;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.721;SOR=0.804	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1225,0,1056	9	0	1	0
chr1	145907402	145907402	G	A	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_003637:exon2:c.C116T:p.A39V	.	430	1091	1	0	0	1	0.000458085	.	.	.	2436169	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.00428286882632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372880825	8.551e-05	8.551e-05	6.806e-05	0.0001	0.0006	7.312e-05	6.815e-05	0.0005	0.0004	0	0	0.0016	2.519e-05	0	0.0003	1.259e-05	0.0002	0.0006	7.224e-05	7.218e-05	7.71e-05	6.716e-05	0.0006	3.969e-05	3.126e-05	0.0002	8.996e-05	0	0	0	0.0020	0	0	0	1.47e-05	0	0.0006	0.147	0.24955	T	0.083	0.41405	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6	0.71662	T	-1.86	0.43524	N	0.46	0.49692	.	.	.	.	.	.	.	0.18663383	0.34137	T	.	.	.	.	.	.	.	.	.	0.9665454062817345	0.96642	.	.	.	.	.	0.138848	0.47256	T	.	.	.	.	.	.	.	.	.	0.863614	0.55989	D	.	.	.	.	.	.	.	.	-6.779	0.52403	T	.	.	0.233	0.46619	B	.	.	4.498736	0.70345	25.5	.	.	.	.	.	.	0.447427	0.50307	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.917000	0.75604	9.807000	0.81726	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1457.43	34	chr1	145907402	.	G	A	1457.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.267;DP=468;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.327;SOR=0.596	GT:AD:DP:GQ:PL	0/1:82,63:145:99:1469,0,2057	9	0	1	0
chr1	146994431	146994431	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon37:c.C4230G:p.D1410E	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0013438849078	.	0.000998403	0.0015	0.0001	0.0003	0	0	0.0003	0.0012	0.0081	0.0010479	162	154602	rs587610532	0.0005	0.0005	0.0003	0.0007	0.0065	0.0005	0.0005	0.0060	0.0058	5.985e-05	4.473e-05	3.827e-05	0	0	0.0015	0.0002	0.0005	0.0065	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	7.267e-05	0	0	0	0.0002	0	0	0.0002	0	0.0058	.	.	.	0.032	0.54541	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.083	0.16725	-0.9866	0.33445	T	0.014	0.05369	T	6	0.0059071183	0.00132	T	0.001344	0.01910	T	.	.	.	.	0.132336055621	0.12781	4.0613534839188605E-4	0.00037	.	.	.	.	.	0.07846	0.35896	T	-0.242254	0.15062	T	-0.585758	0.14035	T	0.0435956033519497	0.04346	T	0.888511	0.73561	D	0.13349986	0.31048	0.103441626	0.24820	0.13349986	0.31048	0.103441626	0.24820	-5.249	0.39435	T	.	.	0.366	0.57616	A	.;.;.;.;.;.	.;.;.;.;.;.	1.093268	0.14769	11.31	0.9579767046672597	0.27849	0.01602	0.05196	N	AEFHCI	0.036093	0.04755	N	-0.677581902665687	0.16662	0.8508681	-0.917115520137308	0.11690	0.5971268	1.42272786872639E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.59	0.59	0.16642	-0.310000	0.08175	-1.148000	0.06189	-0.670000	0.04303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	797	0.45241	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2664.43	85	chr1	146994431	.	C	G	2664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=803;ExcessHet=0;FS=2.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.53;MQRankSum=0.127;QD=10.62;ReadPosRankSum=-1.93;SOR=0.858	GT:AD:DP:GQ:PL	0/1:147,104:251:99:2676,0,3997	9	0	1	0
chr1	146994534	146994534	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon37:c.C4333G:p.L1445V	.	439	995	80	8	0	96	0.0460211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00878594	0.0133	0.0008	0.0125	0	0.0008	0.0115	0.0275	0.0385	0.0105367	1629	154602	rs200424287	0.0097	0.0097	0.0089	0.0105	0.0367	0.0096	0.0095	0.0320	0.0301	0.0017	0.0071	0.0172	0	0.0012	0.0367	0.0087	0.0129	0.0303	0.0070	0.0070	0.0067	0.0073	0.0296	0.0066	0.0065	0.0256	0.0241	0.0012	0	0.0057	0.0208	0	0.0007	0.0136	0.0098	0.0130	0.0296	.	.	.	0.04	0.53072	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.25867	-0.9640	0.38409	T	0.008	0.02968	T	6	0.0031640828	0.00053	T	.	.	.	.	.	.	.	.	.	1.2685876947599533E-4	0.00011	.	.	.	.	.	0.022672	0.17437	T	-0.596757	0.00153	T	-0.603517	0.12517	T	0.00373065755183608	0.00040	T	0.717528	0.33152	T	0.070765465	0.15614	0.07999147	0.18057	0.070765465	0.15614	0.07999147	0.18056	-3.886	0.22092	T	.	.	0.242	0.47600	B	.;.;.;.;.;.	.;.;.;.;.;.	0.664702	0.10331	7.061	0.74286934923283787	0.10639	0.12687	0.17419	N	AEFCI	0.077979	0.15723	N	-0.49473663388212	0.22253	1.186899	-0.71056478873505	0.16698	0.884545	1.28053174850038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.429	0.429	0.15721	0.830000	0.27115	-4.642000	0.02055	-0.678000	0.04252	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	803	0.44167	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	5762.14	143	chr1	146994534	.	C	G	5762.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.39;DP=835;ExcessHet=0.2348;FS=0.795;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=54.43;MQRankSum=7.59;QD=15.08;ReadPosRankSum=0.205;SOR=0.743	GT:AD:DP:GQ:PL	0/1:135,109:244:99:2734,0,3172	8	0	2	0
chr1	152109804	152109804	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G3413A:p.R1138K	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00758786	0.0048	0.0001	0.0003	0	0	2.999e-05	0	0.0348	0.0040491	626	154602	rs533992300	0.0021	0.0021	0.0011	0.0032	0.0339	0.0021	0.0020	0.0329	0.0325	9.158e-05	0	0	0	0	0.0025	2.364e-05	0.0021	0.0339	0.0011	0.0011	0.0005	0.0016	0.0346	0.0009	0.0009	0.0302	0.0286	0	0	0	0	0	0	0	0	0.0005	0.0346	0.0	0.91255	D	0.339	0.18071	T	0.141	0.27581	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	1.87	0.49600	L	3.58	0.04594	T	-0.36	0.13035	N	0.215	0.24135	-0.9188	0.45716	T	0.003	0.00832	T	9	0.0022397041	0.00033	T	.	.	.	0.015	0.02232	0.292	0.25400	0.39798585902	0.39410	0.020110557720561088	0.01964	0.269095252176	0.29422	0.304328262806	0.11049	T	0.002148	0.01547	T	-0.575642	0.00205	T	-0.573884	0.15095	T	0.110068335798985	0.13431	T	0.153785	0.01329	T	0.16616009	0.36933	0.2301852	0.48113	0.17152028	0.37790	0.27158147	0.53059	-6.744	0.52141	T	.	.	0.192	0.44986	B	.;.	.;.	1.747150	0.22230	15.53	0.51538923033367567	0.04581	0.04943	0.10703	N	AEFDBHCI	0.076084	0.15298	N	-1.1373360611999	0.05990	0.2746135	-1.17216560275044	0.06378	0.3068309	0.999861090633338	0.44398	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.554799	0.18163	0	.	.	3.01	2.08	0.26079	1.223000	0.32131	.	.	0.440000	0.21072	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	0.0:0.8634:0.0:0.1366	7.490	0.26625	479	0.77495	.;.	.	.	.	.	.	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	0.004228	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.026515	0.05	2181.43	68	chr1	152109804	.	C	T	2181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.044;DP=768;ExcessHet=0;FS=1.887;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.82;MQRankSum=1.73;QD=12.83;ReadPosRankSum=-0.896;SOR=0.846	GT:AD:DP:GQ:PL	0/1:86,84:170:99:2193,0,2414	9	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	550.24	308	chr1	152214827	.	A	*	550.24	.	AC=6;AF=0.3;AN=20;BaseQRankSum=4.01;DP=1774;ExcessHet=10.3881;FS=42.431;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.67;MQRankSum=2.78;QD=0.34;ReadPosRankSum=-3.783;SOR=9.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,17:239:30:1|0:152214800_C_T:30,0,9204:152214800	4	0	6	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	470.2	308	chr1	152214830	.	C	*	470.2	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.142;DP=1764;ExcessHet=10.3881;FS=42.67;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.6;MQRankSum=2.83;QD=0.3;ReadPosRankSum=-4.464;SOR=9.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,17:239:30:1|0:152214800_C_T:30,0,9204:152214800	4	0	6	0
chr1	152566019	152566019	G	A	exonic	LCE3E	.	nonsynonymous SNV	LCE3E:NM_178435:exon2:c.C190T:p.R64W	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0007	0.00179712	0.0028	0	0.0003	0.0001	0.0163	0.0015	0.0088	0.0070	0.0023415	362	154602	rs141660085	0.0017	0.0017	0.0015	0.0020	0.0069	0.0017	0.0017	0.0065	0.0063	8.961e-05	0.0004	0	2.519e-05	0.0159	0.0024	0.0009	0.0017	0.0069	0.0020	0.0020	0.0012	0.0028	0.0056	0.0018	0.0018	0.0040	0.0034	0.0001	0	0.0004	0	0.0004	0.0178	0	0.0011	0.0009	0.0056	0.001	0.78490	D	0.072	0.43344	T	1.0	0.90584	D	0.981	0.75168	D	.	.	.	.	0.512765	0.31633	N	.	.	.	3.58	0.04594	T	-7.34	0.94594	D	0.243	0.27435	-1.0691	0.09612	T	0.018	0.07282	T	8	0.0069955885	0.00159	T	.	.	.	0.119	0.33137	.	.	0.42081714158	0.41701	0.045876631416582526	0.04531	0.0109884020189	0.01019	0.290862977505	0.09048	T	0.169304	0.51663	T	-0.532448	0.00372	T	-0.534154	0.18873	T	0.129430871580562	0.15329	T	0.615438	0.23533	T	0.2365254	0.46504	0.18598147	0.41743	0.2365254	0.46504	0.18598147	0.41742	-6.756	0.52231	T	.	.	0.123	0.25753	B	.	.	1.079586	0.14625	11.18	0.86540543742528564	0.16605	0.02377	0.06757	N	AEFBI	0.071883	0.14325	N	-0.358730681885269	0.26953	1.47501	-0.622997363671662	0.18902	1.011872	0.0117669632086188	0.12232	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.82	-4.79	0.02966	-1.063000	0.03576	.	.	-0.110000	0.15115	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.1312:0.1909:0.6778	8.553	0.32624	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007634	0.05	3297.43	33	chr1	152566019	.	G	A	3297.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=576;ExcessHet=0;FS=1.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.6;MQRankSum=-0.814;QD=15.13;ReadPosRankSum=-0.901;SOR=0.56	GT:AD:DP:GQ:PL	0/1:97,121:218:99:3309,0,2462	9	0	1	0
chr1	152827648	152827648	G	T	exonic	LCE1A	.	nonsynonymous SNV	LCE1A:NM_178348:exon1:c.G176T:p.G59V	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0048	0.00279553	0.0071	0.0006	0.0026	0	0.0198	0.0077	0.0078	0.0099	0.0066299	1025	154602	rs137886860	0.0064	0.0064	0.0061	0.0066	0.0107	0.0062	0.0062	0.0102	0.0099	0.0005	0.0020	0.0027	2.519e-05	0.0181	0.0024	0.0062	0.0056	0.0107	0.0062	0.0063	0.0060	0.0065	0.0084	0.0059	0.0058	0.0078	0.0076	0.0010	0.0537	0.0026	0.0029	0.0002	0.0176	0.0034	0.0084	0.0047	0.0083	.	.	.	0.037	0.51737	D	0.252	0.31228	B	0.065	0.27321	B	0.001619	0.38497	N	0.000000	0.511832	0.31641	N	0.975	0.24501	L	4.05	0.03092	T	0.1	0.05810	N	0.327	0.36779	-0.9207	0.45458	T	0.004	0.01261	T	10	0.0056049526	0.00124	T	.	.	.	0.053	0.14996	.	.	0.42573502686	0.42190	0.02000986391656538	0.01953	0.00632469907816	0.00551	.	.	.	0.013973	0.11984	T	-0.551778	0.00285	T	-0.555972	0.16757	T	0.0141190291080568	0.00276	T	.	.	.	0.28463754	0.51490	0.29991361	0.56025	0.28463754	0.51490	0.29991361	0.56024	-8.34	0.63364	D	.	.	0.139	0.30423	B	.	.	2.033724	0.25852	16.91	0.92754091606875322	0.22261	0.96048	0.67297	D	AEFBI	0.289958	0.40147	N	-0.0558428762478233	0.39341	2.318482	0.0934079522935043	0.44217	2.707679	0.0109707312120962	0.12109	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	4.706000	0.61534	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.124000	0.19330	0.0:0.0:1.0:0.0	12.484	0.55203	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	0.003178	0.000000	0.000000	0.004098	0.000000	0.000000	0.006135	0.011364	0.05	1074.43	36	chr1	152827648	.	G	T	1074.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.662;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.699;SOR=0.688	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1086,0,1031	9	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1110.25	41	chr1	153760378	.	C	G	1110.25	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.62;DP=1190;ExcessHet=2.8389;FS=304.04;InbreedingCoeff=-0.3798;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.05;SOR=11.598	GT:AD:DP:GQ:PL	0/1:90,48:150:99:240,0,1368	4	0	5	1
chr1	156011827	156011827	G	A	exonic	SSR2	.	stopgain	SSR2:NM_003145:exon5:c.C424T:p.R142X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.942	0.94904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	9.926211	0.99439	44	0.99213921751579504	0.55685	0.88238	0.48077	D	AEFGBI	0.118731	0.23204	N	0.572417952431753	0.71458	5.653797	0.410843908091509	0.62240	4.436054	0.999968225531357	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	3.24	0.36257	1.712000	0.37560	0.938000	0.22831	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.982000	0.59238	0.0:0.0:0.6097:0.3903	12.276	0.54054	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	756.7	39	chr1	156011827	.	G	A	756.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.875;DP=704;ExcessHet=0.7463;FS=223.895;InbreedingCoeff=-0.1843;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=2.76;ReadPosRankSum=-1.04;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,12:75:99:0|1:156011822_G_A:138,0,2340:156011822	7	0	3	0
chr1	156906751	156906751	C	T	exonic	PEAR1	.	nonsynonymous SNV	PEAR1:NM_001080471:exon6:c.C515T:p.P172L,PEAR1:NM_001353682:exon6:c.C323T:p.P108L,PEAR1:NM_001353683:exon7:c.C323T:p.P108L	.	408	1107	7	0	0	7	0.00315173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	.	0.00778754	0.0044	0	0	0	0	0.0002	0.0011	0.0317	0.0038809	600	154602	rs150756495	0.0020	0.0020	0.0012	0.0028	0.0294	0.0019	0.0019	0.0284	0.0280	5.974e-05	0.0001	0	5.038e-05	0	0.0014	0.0002	0.0018	0.0294	0.0009	0.0009	0.0006	0.0013	0.0273	0.0008	0.0008	0.0235	0.0221	7.215e-05	0	6.531e-05	0	0	0	0	8.819e-05	0	0.0273	0.166	0.91255	T	0.641	0.92824	T	0.999	0.77913	D	0.899	0.63802	P	0.000154	0.49130	D	0.000000	0.999186	0.46274	D	0.755	0.19153	N	1.42	0.33842	T	-2.01	0.52128	N	0.248	0.28498	-1.1053	0.03507	T	0.087	0.33634	T	9	0.003223002	0.00055	T	.	.	.	0.155	0.40530	.	.	0.370789594751	0.36692	0.3037308238689374	0.30286	0.665093408823	0.59118	0.4376912117	0.30262	T	0.005733	0.05178	T	-0.419639	0.01719	T	-0.351874	0.38991	T	0.0634809934303742	0.07705	T	0.646635	0.46941	T	0.09234668	0.21661	0.08665678	0.20092	0.09234668	0.21661	0.08665678	0.20092	-8.063	0.61499	D	.	.	0.113	0.27553	B	.;.;.	.;.;.	3.867641	0.56134	23.7	0.9961555568950391	0.75112	0.92570	0.56022	D	AEFGBI	0.457199	0.50874	N	0.32455226443108	0.57411	3.908349	0.30190875673106	0.55650	3.728034	0.999999980784135	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	4.81	4.81	0.61401	-0.191000	0.09598	4.835000	0.45233	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.110000	0.18741	0.0:1.0:0.0:0.0	15.405	0.74596	403	0.82567	Laminin EGF domain|EGF-like domain;.;Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.018939	0.05	1281.43	38	chr1	156906751	.	C	T	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=461;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.535;SOR=0.81	GT:AD:DP:GQ:PL	0/1:86,55:141:99:1293,0,1974	9	0	1	0
chr1	157524551	157524551	A	G	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon10:c.T1967C:p.V656A,FCRL5:NM_031281:exon10:c.T1967C:p.V656A	.	410	1104	8	0	0	8	0.00361011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00299521	0.0027	0	0	0.0001	0	1.53e-05	0.0012	0.0227	0.0022445	347	154602	rs369557186	0.0011	0.0011	0.0005	0.0017	0.0181	0.0011	0.0010	0.0174	0.0171	0	0	0	5.088e-05	0	0.0009	5.467e-06	0.0012	0.0181	0.0007	0.0007	0.0004	0.0010	0.0210	0.0006	0.0005	0.0177	0.0164	2.523e-05	0	0	0	0	0	0	1.47e-05	0	0.0210	0.107	0.29554	T	0.32	0.19131	T	0.204	0.29802	B	0.1	0.30674	B	.	.	.	.	0.99896	0.22253	N	1.695	0.43389	L	3.93	0.03435	T	-1.58	0.38151	N	0.262	0.29659	-0.9479	0.41330	T	0.003	0.01026	T	9	0.003702104	0.00068	T	.	.	.	0.014	0.01968	0.372	0.38340	0.115124310173	0.11017	0.126260073752703	0.12552	0.110544938361	0.12480	0.37901031971	0.22116	T	0.003419	0.02829	T	-0.62078	0.00109	T	-0.648227	0.09078	T	0.0223756344928609	0.00951	T	0.707329	0.31793	T	0.027784029	0.02020	0.031413727	0.01727	0.027784029	0.02019	0.031413727	0.01727	-8.125	0.62162	D	.	.	0.159	0.41932	B	.;.	.;.	0.940373	0.13162	9.661	0.70427798974680356	0.09292	0.38289	0.25955	N	AEFGBI	0.087630	0.17767	N	-0.880255248068911	0.11313	0.54528	-0.854551474002846	0.13178	0.682235	0.999910294143059	0.45857	0.730579	0.87903	0	0.749866	0.99406	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.69	0.885	0.18323	0.957000	0.28812	0.523000	0.19181	0.665000	0.62972	0.824000	0.30046	0.000000	0.08366	0.120000	0.19168	0.6102:0.1813:0.2085:0.0	3.930	0.08779	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2559.43	34	chr1	157524551	.	A	G	2559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.24;DP=483;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.756;SOR=0.744	GT:AD:DP:GQ:PL	0/1:81,93:174:99:2571,0,2013	9	0	1	0
chr1	158606703	158606703	G	A	exonic	OR10Z1	.	nonsynonymous SNV	OR10Z1:NM_001004478:exon1:c.G265A:p.D89N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00344666877125	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762941391	4.789e-06	4.788e-06	2.723e-06	6.876e-06	5.797e-05	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	4.472e-05	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.07163	T	0.595	0.08079	T	0.001	0.07471	B	0.001	0.04355	B	0.205631	0.03350	N	1.747910	1	0.08975	N	-0.09	0.04745	N	4.08	0.03003	T	1.15	0.01151	N	0.073	0.04668	-0.9066	0.47262	T	0.002	0.00615	T	10	0.04290232	0.03085	T	0.003447	0.07786	T	0.005	0.00259	0.262	0.20631	0.101711395817	0.09552	0.04160838191088692	0.04105	0.00421502833054	0.00371	0.222309291363	0.01447	T	3.65E-4	0.00107	T	-0.591742	0.00164	T	-0.911926	0.00424	T	0.0358584012878096	0.02957	T	0.0781922	0.00576	T	0.03220403	0.03201	0.02769015	0.00941	0.03220403	0.03201	0.02769015	0.00941	-3.891	0.22167	T	.	.	0.075	0.06896	B	.;.	.;.	0.225777	0.06078	2.519	0.48319316409408242	0.04022	0.04574	0.10220	N	AEFI	0.091263	0.18488	N	-1.44398463990084	0.02264	0.09980777	-1.4492750445393	0.02776	0.1283239	0.0212390250387999	0.13331	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.36	-3.4	0.04549	-0.492000	0.06547	0.214000	0.15995	-0.706000	0.03979	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.6685:0.1237:0.2078:0.0	9.044	0.35496	544	0.72685	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	.	.	.	.	.	.	.	.	0.05	2389.43	35	chr1	158606703	.	G	A	2389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.84;DP=537;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.204;SOR=0.677	GT:AD:DP:GQ:PL	0/1:121,92:213:99:2401,0,3341	9	0	1	0
chr1	160130114	160130114	G	A	exonic	ATP1A2	.	nonsynonymous SNV	ATP1A2:NM_000702:exon12:c.G1474A:p.E492K	Alternating hemiplegia of childhood, Autosomal dominant;Migraine, familial basilar, Autosomal dominant;Migraine, familial hemiplegic, 2, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	201085	Inborn_genetic_diseases|not_provided|ATP1A2-related_disorder|Familial_hemiplegic_migraine|Migraine,_familial_hemiplegic,_2|Alternating_hemiplegia_of_childhood_1|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.519	0.0640059234259	0.0006	0.000399361	0.0004	0.0002	0.0003	0.0006	0	0.0006	0	0	0.0004334	67	154602	rs142348542	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0002	0.0003	3.826e-05	0.0001	5.617e-05	0.0003	0.0009	0.0005	1.159e-05	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0007	0.0006	0.0003	0	0.0004	0	0	0	0	0.0008	0	0	0.328	0.13349	T	0.498	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	0.000058	0.53742	D	0.162892	0.999959	0.52396	D	-0.23	0.03940	N	-3.92	0.96078	D	-1.85	0.43334	N	0.729	0.78737	-0.3605	0.73248	T	0.431	0.77310	T	10	0.106758386	0.19798	T	0.064006	0.69143	D	0.519	0.79522	.	.	0.979021304379	0.97879	0.7538960804138075	0.75336	0.85012815804	0.68487	0.718519389629	0.69831	T	0.68582	0.90819	D	-0.0346796	0.46733	T	0.126968	0.78693	D	0.0237014412251835	0.01108	T	0.913309	0.69109	D	0.14419505	0.33108	0.16760999	0.38659	0.15800595	0.35570	0.16268353	0.37776	-12.805	0.88543	D	0.2354241078118426	0.31877	0.291	0.52849	B	.;.	.;.	3.504872	0.49049	22.7	0.99611251427386815	0.74813	0.69331	0.34146	D	AEFDBI	0.314508	0.41935	N	-0.433391562358734	0.24307	1.311514	-0.217131797702824	0.30922	1.745264	0.999999539512934	0.74766	0.732398	0.92422	0	0.563428	0.19063	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.61	3.68	0.41359	1.426000	0.34478	6.732000	0.56460	0.654000	0.53741	0.905000	0.31549	1.000000	0.68203	0.989000	0.64315	0.0921:0.0:0.9079:0.0	11.355	0.48848	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1432.43	33	chr1	160130114	.	G	A	1432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.14;DP=431;ExcessHet=0;FS=10.37;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.573;SOR=0.531	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1444,0,1495	9	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2552.8	148	chr1	161048864	.	C	G	2552.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-5.803;DP=2098;ExcessHet=15.1594;FS=227.99;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.96;SOR=12.441	GT:AD:DP:GQ:PL	0/1:156,48:213:99:220,0,3420	0	0	9	1
chr1	161228740	161228740	C	T	exonic	TOMM40L	.	nonsynonymous SNV	TOMM40L:NM_001286374:exon7:c.C515T:p.A172V,TOMM40L:NM_001286373:exon8:c.C608T:p.A203V,TOMM40L:NM_032174:exon9:c.C710T:p.A237V	.	432	1058	31	1	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	.	0.0016	0.00219649	0.0033	0.0003	0.0012	0.0001	0.0002	0.0022	0.0055	0.0139	0.0029948	463	154602	rs145255926	0.0025	0.0025	0.0020	0.0029	0.0143	0.0024	0.0024	0.0136	0.0134	0.0004	0.0011	0.0003	2.519e-05	0.0001	0.0059	0.0019	0.0021	0.0143	0.0016	0.0016	0.0013	0.0020	0.0150	0.0015	0.0014	0.0122	0.0112	0.0003	0	0.0020	0	0.0002	0	0.0136	0.0019	0.0009	0.0150	0.195	0.21144	T	0.167	0.30729	T	0.536	0.37827	P	0.348	0.42747	B	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.92	0.51302	L	0.98	0.42122	T	-1.4	0.34596	N	0.799	0.81162	-1.0738	0.08598	T	0.054	0.22846	T	9	0.013122827	0.00279	T	.	.	.	0.298	0.61843	.	.	0.255117706274	0.25116	0.5664337149296164	0.56571	1.32499314031	0.83536	0.610180258751	0.54341	T	0.046743	0.27515	T	-0.177935	0.24042	T	-0.017336	0.69205	D	0.0415316929974051	0.03969	T	0.893711	0.63332	D	0.28046897	0.51094	0.30697423	0.56720	0.28046897	0.51094	0.30697423	0.56719	-9.201	0.68981	D	.	.	0.391	0.59051	A	.;.;.	.;.;.	4.981590	0.82523	27.8	0.98918564707376344	0.48509	0.98218	0.80639	D	AEFBI	0.896907	0.83850	D	-0.00998232733866537	0.41403	2.475816	0.127036350981368	0.45937	2.848119	0.999999999469914	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	4.71	0.59010	7.568000	0.81546	7.661000	0.64234	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9202:0.0:0.0798	12.828	0.57112	715	0.56137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.009511	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1380.43	35	chr1	161228740	.	C	T	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.368;DP=432;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.639;SOR=0.822	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1392,0,1243	9	0	1	0
chr1	161526528	161526528	T	C	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.T1870C:p.C624R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00385198014394	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1456907374	4.147e-06	4.104e-06	2.742e-06	5.575e-06	7.083e-05	1.49e-06	9.8e-07	3.04e-05	2.068e-05	0	0	0	0	0	0	0	0	7.083e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.239	0.24477	T	0.001	0.07471	B	0.002	0.06944	B	0.226567	0.16015	U	0.314266	1.000	0.50806	D	1.32	0.33002	L	5.53	0.00894	T	-1.15	0.29525	N	0.297	0.33578	-0.8728	0.50318	T	0.001	0.00287	T	10	0.11682245	0.22046	T	0.003852	0.09024	T	0.042	0.11227	0.303	0.27164	0.259272394797	0.25527	0.13102881773493308	0.13027	.	.	0.593473792076	0.51984	T	0.00116	0.00668	T	-0.319903	0.06905	T	-0.594352	0.13291	T	0.0361654089356636	0.03009	T	0.716128	0.32863	T	0.65912914	0.75852	0.5187475	0.72194	0.65912914	0.75853	0.5187475	0.72195	-4.32	0.28457	T	.	.	0.142	0.31203	B	.	.	1.497561	0.19258	14.17	0.95212442476415737	0.26421	0.36432	0.25531	N	AEFDBI	0.336622	0.43468	N	-0.622900798164291	0.18257	0.9464404	-0.4902674595574	0.22420	1.217677	0.999975937744443	0.50053	0.59774	0.34471	0	0.61073	0.52368	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.59	3.59	0.40253	0.849000	0.27375	0.229000	0.16167	0.607000	0.46521	0.690000	0.28531	0.000000	0.08366	0.368000	0.26066	0.0:0.0:0.0:1.0	10.171	0.42082	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	573.43	39	chr1	161526528	.	T	C	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.623;DP=383;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.19;MQRankSum=0.518;QD=9.89;ReadPosRankSum=1.44;SOR=0.537	GT:AD:DP:GQ:PL	0/1:32,26:58:99:585,0,927	9	0	1	0
chr1	171205623	171205623	G	C	exonic	FMO2	.	nonsynonymous SNV	FMO2:NM_001301347:exon5:c.G512C:p.R171T,FMO2:NM_001365900:exon6:c.G977C:p.R326T,FMO2:NM_001460:exon7:c.G1172C:p.R391T	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	.	0.0049	0.0115815	0.0040	0.0172	0.0047	0	0	0.0006	0.0036	0.0150	0.0035834	554	154602	rs28369899	0.0016	0.0016	0.0012	0.0019	0.0175	0.0015	0.0015	0.0163	0.0158	0.0175	0.0032	3.911e-05	2.525e-05	0	0.0135	0.0003	0.0032	0.0107	0.0055	0.0055	0.0053	0.0057	0.0154	0.0052	0.0050	0.0144	0.0140	0.0154	0	0.0062	0	0	0	0.0102	0.0005	0.0047	0.0112	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000002	0.62929	D	0.094778	0.999957	0.52396	D	.	.	.	0.41	0.57100	T	-4.86	0.81187	D	0.716	0.71854	-0.0738	0.80691	T	0.401	0.75195	T	10	0.012713671	0.00272	T	.	.	.	0.473	0.76619	.	.	0.927178182052	0.92643	0.769924132341514	0.76941	.	.	0.644250631332	0.59169	T	.	.	.	-0.329994	0.06112	T	-0.233164	0.51465	T	0.0435719167914988	0.04342	T	0.950005	0.80823	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.59016	A	.	.	5.146066	0.86174	28.8	0.98568330491178069	0.43076	0.99608	0.97942	D	AEFBI	0.871379	0.79274	D	0.950511489294664	0.94005	12.43282	0.863264346806545	0.93768	12.26565	0.999999999830897	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	9.984000	0.99176	7.393000	0.58525	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	18.647	0.91371	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016327	0.010101	0.023098	0.018987	0.000000	0.017241	0.006098	0.018939	0.05	1046.43	40	chr1	171205623	.	G	C	1046.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.8;DP=417;ExcessHet=0;FS=4.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.53;SOR=1.321	GT:AD:DP:GQ:PL	0/1:51,36:87:99:1058,0,1318	9	0	1	0
chr1	179142975	179142975	G	T	exonic	ABL2	.	nonsynonymous SNV	ABL2:NM_001136000:exon1:c.C70A:p.L24M,ABL2:NM_001168239:exon1:c.C70A:p.L24M,ABL2:NM_005158:exon1:c.C70A:p.L24M	Leukemia, acute myeloid, with eosinophilia (1)	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	0.0109824	0.0067	0.0001	0.0006	0	0	7.494e-05	0.0011	0.0480	0.0057179	884	154602	rs202125612	0.0029	0.0029	0.0015	0.0042	0.0455	0.0028	0.0028	0.0443	0.0438	5.974e-05	8.944e-05	3.827e-05	2.519e-05	0	0.0007	6.565e-05	0.0028	0.0455	0.0015	0.0016	0.0008	0.0023	0.0477	0.0014	0.0013	0.0426	0.0407	7.218e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0477	0.05	0.39575	D	0.229	0.44106	T	0.001	0.12996	B	0.004	0.14300	B	.	.	.	.	1	0.81001	D	.	.	.	-0.94	0.75438	T	-0.33	0.14000	N	0.252	0.30233	-0.4926	0.68916	T	0.443	0.78014	T	8	0.0033200681	0.00057	T	.	.	.	0.151	0.39764	.	.	0.566372544126	0.56301	.	.	.	.	0.299717366695	0.10359	T	.	.	.	-0.433076	0.01421	T	-0.358355	0.38243	T	0.0212990671265439	0.00832	T	0.408659	0.11777	T	.	.	.	.	.	.	.	.	-5.762	0.45333	T	.	.	0.102	0.17995	B	.;.;.	.;.;.	0.470252	0.08397	5.153	0.9679132504787068	0.31113	0.22449	0.21750	N	ALL	0.226394	0.35035	N	-0.339868788388351	0.27645	1.518464	-0.33240103306098	0.27059	1.498859	0.999999999997922	0.74766	0.441713	0.08003	0	0.491513	0.07743	0	0.55458	0.18720	0	0.56214	0.19341	0	.	.	5.34	4.41	0.52588	0.241000	0.17843	0.877000	0.22363	0.676000	0.76740	0.230000	0.24643	0.599000	0.25709	0.185000	0.21450	0.0:0.0:0.8304:0.1696	12.320	0.54300	516	0.74704	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006054	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.022727	0.05	1108.43	34	chr1	179142975	.	G	T	1108.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.526;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-2.156;SOR=0.664	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1120,0,1584	9	0	1	0
chr1	180196583	180196583	C	T	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon12:c.C1790T:p.P597L,QSOX1:NM_002826:exon12:c.C1790T:p.P597L	.	428	1091	3	0	0	3	0.001373	.	.	.	706906	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0002	0.00239617	0.0022	9.639e-05	0.0003	0	0	9.01e-05	0	0.0156	0.0018628	288	154602	rs145708234	0.0010	0.0010	0.0006	0.0014	0.0153	0.0010	0.0010	0.0147	0.0144	8.961e-05	6.708e-05	0	2.519e-05	0	0.0002	8.004e-05	0.0010	0.0153	0.0005	0.0005	0.0003	0.0008	0.0143	0.0004	0.0004	0.0116	0.0106	0.0001	0	0	0	0	0	0	7.351e-05	0.0005	0.0143	0.08	0.33585	T	0.3	0.51737	T	0.246	0.41767	B	0.008	0.28435	B	0.003987	0.34245	N	0.000000	1	0.08975	N	0.205	0.09354	N	3.71	0.04309	T	-2.3	0.51157	N	0.039	0.02272	-0.9305	0.44066	T	0.009	0.03140	T	10	0.0036527812	0.00067	T	.	.	.	0.031	0.07369	.	.	0.197625483188	0.19356	0.25758597401411304	0.25672	0.120610380543	0.13580	0.328654587269	0.14730	T	0.055205	0.29940	T	-0.634666	0.00090	T	-0.671456	0.07516	T	0.00684526511982748	0.00077	T	0.621038	0.23867	T	0.023696337	0.01131	0.031898208	0.01845	0.023696337	0.01131	0.031898208	0.01845	-4.099	0.25275	T	.	.	0.066	0.06159	B	.;.	.;.	0.666643	0.10352	7.079	0.47427196367465257	0.03877	0.05425	0.11298	N	AEFDBI	0.120464	0.23466	N	-0.86201127826857	0.11756	0.5690883	-0.94416556179527	0.11059	0.5610655	0.96431206505802	0.28751	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.47	1.33	0.20958	-0.391000	0.07383	-0.401000	0.09410	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1553:0.5948:0.1523:0.0977	4.248	0.10132	790	0.46189	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	2093.43	35	chr1	180196583	.	C	T	2093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=516;ExcessHet=0;FS=3.247;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.206;SOR=0.525	GT:AD:DP:GQ:PL	0/1:108,89:197:99:2105,0,2449	9	0	1	0
chr1	198713049	198713049	C	T	exonic	PTPRC	.	nonsynonymous SNV	PTPRC:NM_080921:exon9:c.C785T:p.T262I,PTPRC:NM_002838:exon12:c.C1268T:p.T423I	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	.	364699	not_specified|Immunodeficiency_104	MedGen:CN169374|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.130	.	0.0068	0.00579073	0.0020	0.0222	0.0012	0	0	8.999e-05	0.0011	0	0.0019534	302	154602	rs6696162	0.0007	0.0007	0.0008	0.0006	0.0244	0.0007	0.0006	0.0230	0.0224	0.0244	0.0013	0	0	0	0.0012	2.429e-05	0.0016	0.0001	0.0068	0.0068	0.0071	0.0066	0.0239	0.0065	0.0064	0.0227	0.0222	0.0239	0	0.0018	0	0	0	0	0.0001	0.0047	0	.	.	.	0.367	0.16619	T	.	.	.	.	.	.	0.002546	0.00896	N	3.526910	1	0.08975	N	.	.	.	0.38	0.57575	T	.	.	.	0.08	0.05542	-1.0407	0.17101	T	0.031	0.13504	T	10	0.0033831298	0.00059	T	.	.	.	0.130	0.35528	.	.	0.364535869594	0.36064	0.40492469543911325	0.40408	0.185757737437	0.20887	0.307649195194	0.11552	T	0.016292	0.13495	T	-0.469731	0.00853	T	-0.428588	0.30094	T	0.0090220478533474	0.00113	T	0.427957	0.11563	T	0.0674463	0.14606	0.035348263	0.02770	0.045349058	0.07408	0.042616215	0.05117	-6.41	0.51577	T	.	.	0.158	0.37274	B	.;.;.;.	.;.;.;.	-4.411972	0.00000	0.001	0.054401745563220187	0.00011	0.00109	0.00694	N	AEFBI	0.042900	0.06714	N	-1.90956713813556	0.00328	0.01409573	-2.07822145132555	0.00208	0.009151382	0.999999875087337	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.18	-8.36	0.00858	-8.218000	0.00030	-20.000000	0.00162	-0.822000	0.02949	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3767:0.0904:0.1653:0.3676	1.397	0.02127	598	0.68232	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004536	0.015152	0.004076	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	683.43	33	chr1	198713049	.	C	T	683.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.791;DP=388;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=0.122;SOR=0.573	GT:AD:DP:GQ:PL	0/1:50,31:81:99:695,0,1230	9	0	1	0
chr1	202148682	202148682	G	A	exonic	PTPN7	.	nonsynonymous SNV	PTPN7:NM_001364878:exon9:c.C1007T:p.T336M,PTPN7:NM_080588:exon9:c.C1124T:p.T375M,PTPN7:NM_001199797:exon10:c.C1229T:p.T410M,PTPN7:NM_001364877:exon10:c.C1004T:p.T335M,PTPN7:NM_002832:exon10:c.C1007T:p.T336M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.667	0.300605116737	.	.	1.679e-05	0	8.761e-05	0	0	0	0	6.142e-05	1.29e-05	2	154602	rs781093850	1.574e-05	1.642e-05	1.362e-05	1.788e-05	0.0002	1.048e-05	8.75e-06	1.012e-05	8.35e-06	0	2.238e-05	0	2.52e-05	0	0.0002	1.619e-05	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.034	0.56192	D	1.0	0.90584	D	0.998	0.88582	D	0.000022	0.55875	D	0.000000	0.999899	0.58761	D	.	.	.	2.18	0.18875	T	-5.52	0.85994	D	0.844	0.86191	-0.6181	0.64067	T	0.189	0.54079	T	10	0.87545156	0.86832	D	0.300605	0.90869	D	0.667	0.87625	.	.	0.561027722634	0.55763	0.617582545577373	0.61690	0.679948637296	0.59958	0.770737707615	0.77535	T	0.682228	0.90681	D	0.199236	0.73821	D	0.156069	0.80564	D	0.97398042678833	0.70320	D	0.987701	0.95793	D	.	.	.	.	.	.	.	.	-10.879	0.80002	D	.	.	0.478	0.66996	A	.;.;.	.;.;.	5.500409	0.91581	32	0.99902441421915555	0.97426	0.97180	0.73161	D	AEFBHCI	0.916947	0.88386	D	0.9226995864736	0.92826	11.65263	0.850582954148592	0.93051	11.793	0.999999999571609	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	9.043000	0.93270	11.720000	0.94800	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.401	0.83478	834	0.38640	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1675.43	34	chr1	202148682	.	G	A	1675.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.747;SOR=0.754	GT:AD:DP:GQ:PL	0/1:66,66:132:99:1687,0,1527	9	0	1	0
chr1	202729710	202729710	A	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon25:c.T4359A:p.D1453E,KDM5B:NM_006618:exon26:c.T4494A:p.D1498E,KDM5B:NM_001314042:exon27:c.T4602A:p.D1534E	.	426	1092	3	1	0	5	0.00228415	.	.	.	2367551	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.230	0.0222825450552	0.0002	0.000199681	0.0002	0	0	0	0	0.0003	0.0011	0	0.0001358	21	154602	rs200575696	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0030	0.0026	2.992e-05	0.0001	0	0	0	0.0043	0.0002	0.0003	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	9.143e-05	7.699e-05	0.0001	9.898e-05	0	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0	0.284	0.16198	T	0.75	0.06970	T	0.011	0.22658	B	0.028	0.22546	B	0.000001	0.84330	D	0.093483	0.985224	0.40254	D	0.545	0.13751	N	-1.88	0.84487	D	-1.07	0.31375	N	0.336	0.38746	-0.9005	0.47942	T	0.278	0.64987	T	10	0.07231936	0.10778	T	0.022283	0.45152	T	0.230	0.53062	0.441	0.49648	0.298745278005	0.29478	0.23540536816406193	0.23455	0.25013123898	0.27594	0.75641387701	0.75395	T	0.019393	0.15458	T	-0.262637	0.12593	T	-0.314713	0.43150	T	0.0289787732481065	0.01834	T	0.783822	0.43772	T	0.05931857	0.12040	0.06687431	0.13758	0.05931857	0.12039	0.06687431	0.13757	-4.149	0.26009	T	.	.	0.127	0.61796	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.028378	0.25781	16.88	0.93444781135175159	0.23224	0.89554	0.50092	D	AEFDBI	0.189266	0.31652	N	-0.536383643627091	0.20912	1.10596	-0.351452235908104	0.26465	1.461926	0.392652138265036	0.20060	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.68	2.03	0.25714	0.907000	0.28154	1.243000	0.25119	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.6602:0.1244:0.2154:0.0	6.089	0.19206	411	0.82069	Zinc finger, PHD-finger|Zinc finger, PHD-finger|Zinc finger, PHD-type;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003535	0.000000	0.004076	0.002941	0.000000	0.008621	0.003106	0.000000	0.05	786.43	35	chr1	202729710	.	A	T	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.33;DP=355;ExcessHet=0;FS=8.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=0.77;SOR=2.395	GT:AD:DP:GQ:PL	0/1:22,24:46:99:798,0,568	9	0	1	0
chr1	203347823	203347823	C	G	exonic	FMOD	.	nonsynonymous SNV	FMOD:NM_002023:exon2:c.G448C:p.V150L	.	427	1092	3	0	0	3	0.00137174	.	.	.	3432464	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0262434320911	.	.	2.471e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs758862040	3.694e-05	3.694e-05	2.995e-05	4.401e-05	0.0049	2.894e-05	2.592e-05	0.0034	0.0030	2.987e-05	0	0	0	0	0.0049	1.619e-05	4.967e-05	4.637e-05	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	0.078	0.33923	T	0.228	0.25286	T	0.3	0.32550	B	0.129	0.32841	B	0.008803	0.30655	N	0.337584	0.580285	0.31105	N	0.56	0.15190	N	0.45	0.56446	T	-1.65	0.39503	N	0.402	0.44283	-0.9824	0.34445	T	0.093	0.35444	T	10	0.09985161	0.18148	T	0.026243	0.49161	D	0.052	0.14661	0.621	0.75576	0.528059499947	0.52454	0.56706175672735	0.56634	0.0551494826904	0.06106	0.41206997633	0.26743	T	0.358419	0.72498	T	-0.297809	0.08867	T	-0.509193	0.21399	T	0.0739832354725179	0.09199	T	0.715028	0.32905	T	0.20460917	0.42576	0.1291647	0.31062	0.20460917	0.42576	0.1291647	0.31061	-6.652	0.51448	T	.	.	0.783	0.76510	P	.;.	.;.	2.007248	0.25502	16.79	0.89747168359450313	0.19066	0.69401	0.34173	D	AEFDBI	0.499295	0.53304	N	-0.890871778742094	0.11059	0.5316753	-0.87939744275269	0.12582	0.6480833	0.647271911277109	0.22121	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.39	0.258	0.14835	0.941000	0.28602	1.086000	0.23936	-0.850000	0.02721	0.291000	0.25242	0.973000	0.29867	0.619000	0.31870	0.0:0.5292:0.0:0.4708	8.994	0.35201	920	0.19381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	2362.43	33	chr1	203347823	.	C	G	2362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.82;DP=506;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=1.29;SOR=0.669	GT:AD:DP:GQ:PL	0/1:104,88:192:99:2374,0,2824	9	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1775.95	150	chr1	204444146	.	C	T	1775.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.45;DP=1261;ExcessHet=7.0302;FS=231.663;InbreedingCoeff=-0.5226;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=1.11;SOR=9.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,24:127:99:0|1:204444146_C_T:137,0,3301:204444146	3	0	7	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	438.75	150	chr1	204444147	.	A	G	438.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.263;DP=1122;ExcessHet=1.5895;FS=176.128;InbreedingCoeff=-0.2371;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.71;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,24:127:99:0|1:204444146_C_T:137,0,3301:204444146	6	0	4	0
chr1	206937104	206937104	C	T	exonic	PIGR	.	nonsynonymous SNV	PIGR:NM_002644:exon4:c.G1036A:p.V346I	.	417	1073	30	2	0	34	0.0155963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00933196404289	0.0043	0.00279553	0.0052	0.0016	0.0029	0.0002	0.0005	0.0074	0.0038	0.0045	0.0048318	747	154602	rs12748810	0.0052	0.0052	0.0051	0.0052	0.0107	0.0051	0.0050	0.0086	0.0078	0.0009	0.0038	0.0133	0.0001	0.0009	0.0107	0.0057	0.0052	0.0025	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0054	0.0052	0.0013	0.0319	0.0029	0.0118	0.0002	0.0005	0.0204	0.0059	0.0062	0.0021	0.172	0.22660	T	0.092	0.39954	T	0.959	0.55135	D	0.344	0.42549	B	0.000454	0.44317	N	0.098719	0.646236	0.32921	D	1.545	0.39105	L	2.3	0.16953	T	-0.58	0.17417	N	0.099	0.08088	-0.9996	0.30030	T	0.029	0.12409	T	10	0.005029261	0.00108	T	0.009332	0.24483	T	0.072	0.21020	.	.	0.189391138174	0.18552	0.4810212973730127	0.48022	0.426954359613	0.43058	0.376184433699	0.21714	T	0.174517	0.52377	T	-0.666129	0.00058	T	-0.724497	0.04581	T	0.0185711887291415	0.00572	T	0.661834	0.27067	T	0.091067985	0.21330	0.051946834	0.08461	0.091067985	0.21329	0.051946834	0.08461	-5.41	0.41016	T	.	.	0.082	0.08899	B	.	.	2.155181	0.27454	17.47	0.99591695879643904	0.73631	0.29423	0.23817	N	AEFBI	0.158394	0.28405	N	0.005644445633114	0.42111	2.531223	-0.0272485895640157	0.38489	2.268321	0.93774651646716	0.27311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	4.61	0.56724	0.074000	0.14525	-0.668000	0.07948	0.599000	0.40250	0.028000	0.20300	0.000000	0.08366	0.750000	0.35786	0.0:0.8245:0.0:0.1755	8.417	0.31840	798	0.45050	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	0.012588	0.010101	0.006793	0.005848	0.000000	0.008621	0.027439	0.018939	0.05	1532.43	61	chr1	206937104	.	C	T	1532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.673;DP=484;ExcessHet=0;FS=1.554;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.675;SOR=0.538	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1544,0,1607	9	0	1	0
chr1	215647651	215647651	T	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon67:c.A14662T:p.T4888S	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	2	1508	11	1	0	13	0.00429185	.	.	YES	172373	not_specified|not_provided|Retinitis_pigmentosa_39|Usher_syndrome_type_2A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	.	0.00339457	0.0019	0.0003	0.0004	0	0	1.5e-05	0.0022	0.0132	0.0016041	248	154602	rs200993435	0.0008	0.0008	0.0004	0.0012	0.0130	0.0008	0.0007	0.0124	0.0121	0	0	0	0	0	0.0009	1.799e-06	0.0007	0.0130	0.0004	0.0004	0.0002	0.0007	0.0126	0.0003	0.0003	0.0101	0.0092	0.0001	0	0	0	0	0	0	0	0	0.0126	0.466	0.08584	T	0.495	0.11371	T	0.0	0.02946	B	0.002	0.06944	B	0.239619	0.03573	N	1.979230	1	0.08975	N	0.62	0.15745	N	0.41	0.57100	T	-0.25	0.11008	N	0.085	0.06190	-0.9991	0.30171	T	0.060	0.25163	T	10	0.0072621405	0.00165	T	.	.	.	0.117	0.32689	.	.	0.606442066225	0.60329	0.17513259371677825	0.17432	0.0285023843648	0.02934	0.216341197491	0.01109	T	0.022511	0.17341	T	-0.667378	0.00057	T	-0.720387	0.04777	T	0.0126929710453862	0.00213	T	0.274073	0.04660	T	0.03577876	0.04276	0.023033546	0.00320	0.03577876	0.04276	0.023033546	0.00320	-2.403	0.05151	T	0.0997274215141531	0.07276	0.083	0.09385	B	.	.	-1.514873	0.00286	0.005	0.20515617161648358	0.00741	0.06157	0.12138	N	AEFBI	0.068052	0.13406	N	-1.63666393831437	0.01092	0.04741578	-1.76370717513333	0.00883	0.03944998	0.999999999757835	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.8	-11.6	0.00045	-1.845000	0.01770	-6.941000	0.01268	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.3658:0.2845:0.0904:0.2594	1.596	0.02503	672	0.60758	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	402.43	35	chr1	215647651	.	T	A	402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=361;ExcessHet=0;FS=1.099;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.45;ReadPosRankSum=-1.837;SOR=0.504	GT:AD:DP:GQ:PL	0/1:36,18:54:99:414,0,886	9	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	191.32	95	chr1	220154029	.	G	C	191.32	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.127;DP=777;ExcessHet=7.0302;FS=236.426;InbreedingCoeff=-0.4786;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.194;SOR=10.961	GT:AD:DP:GQ:PL	0/1:39,23:72:78:78,0,438	3	0	7	0
chr1	222629720	222629720	A	G	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.A2500G:p.I834V,MIA3:NM_001324063:exon4:c.A2500G:p.I834V,MIA3:NM_198551:exon4:c.A2500G:p.I834V,MIA3:NM_001324064:exon5:c.A2008G:p.I670V	.	419	1088	15	0	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0053	0.00339457	0.0063	0.0016	0.0047	0	0.0067	0.0088	0.0101	0.0032	0.0061383	949	154602	rs79054337	0.0075	0.0075	0.0076	0.0074	0.0086	0.0074	0.0073	0.0084	0.0084	0.0013	0.0045	0.0007	0	0.0078	0.0036	0.0086	0.0072	0.0036	0.0055	0.0055	0.0055	0.0055	0.0084	0.0052	0.0051	0.0079	0.0076	0.0015	0.0044	0.0048	0	0	0.0079	0.0068	0.0084	0.0076	0.0048	0.071	0.35165	T	0.636	0.07059	T	0.017	0.17573	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	0.14	0.05405	N	0.06	0.03175	-0.9047	0.47481	T	0.007	0.02360	T	9	0.0034705698	0.00061	T	.	.	.	0.010	0.01040	.	.	0.126345400529	0.12197	0.02975397248211301	0.02924	0.0474528487497	0.05180	0.231261909008	0.02063	T	2.94E-4	0.00073	T	-0.674629	0.00052	T	-0.735578	0.04079	T	0.00121981089687263	0.00012	T	0.264874	0.04312	T	0.018474111	0.00368	0.0287193	0.01134	0.018474111	0.00368	0.0287193	0.01134	-2.737	0.07619	T	.	.	0.071	0.03887	B	.	.	-1.077967	0.00667	0.019	0.19956957880846973	0.00697	0.02504	0.06993	N	AEFBCI	0.020073	0.00756	N	-1.18086869438657	0.05290	0.2407763	-1.24845453336349	0.05154	0.2448985	0.988158556269713	0.31431	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.23	-1.89	0.07271	-0.116000	0.10697	-0.546000	0.08555	-0.056000	0.16711	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3763:0.3183:0.3054:0.0	4.205	0.09939	910	0.22284	.	.	.	.	.	rs79054337	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	1127.43	77	chr1	222629720	.	A	G	1127.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.507;DP=588;ExcessHet=0;FS=1.609;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.392;SOR=0.845	GT:AD:DP:GQ:PL	0/1:55,46:101:99:1139,0,1454	9	0	1	0
chr1	224617189	224617189	C	A	exonic	CNIH3	.	nonsynonymous SNV	CNIH3:NM_001322305:exon1:c.C15A:p.F5L,CNIH3:NM_152495:exon1:c.C15A:p.F5L	.	429	1092	1	0	0	1	0.000457666	.	.	.	3941212	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.276	0.0134285889882	.	0.000399361	0.0002	0	0	0	0	4.502e-05	0	0.0011	0.0001488	23	154602	rs551694372	7.662e-05	7.661e-05	6.534e-05	8.801e-05	0.0009	6.491e-05	6.07e-05	0.0006	0.0006	0	2.237e-05	0	0	0	0.0009	3.058e-05	0.0001	0.0008	5.907e-05	5.905e-05	6.422e-05	5.368e-05	0.0010	3.074e-05	2.208e-05	0.0004	0.0003	0	0	0	0	0	0	0	5.879e-05	0	0.0010	0.253	0.16958	T	0.26	0.23029	T	0.997	0.70673	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.57	0.39626	L	1.03	0.40469	T	-3.04	0.62863	D	0.757	0.75559	-1.0176	0.24495	T	0.133	0.44583	T	10	0.16096994	0.30206	T	0.013429	0.32827	T	0.276	0.59253	0.442	0.49811	0.251116650651	0.24721	0.8997989924725598	0.89951	0.755411650053	0.63989	0.914600789547	0.97886	D	0.190127	0.54457	T	-0.210633	0.19290	T	-0.148141	0.59408	T	0.324620395898819	0.26008	T	0.913209	0.69058	D	0.34403345	0.56598	0.2929335	0.55321	0.34403345	0.56598	0.2929335	0.55320	-6.154	0.47550	T	.	.	0.983	0.91837	P	.	.	4.575217	0.72228	25.8	0.99837769797959808	0.91886	0.86663	0.45991	D	AEFDBHCI	0.379296	0.46237	N	0.361257886311547	0.59336	4.11221	0.377235990681675	0.60165	4.201051	0.999999999319856	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	4.85	4.85	0.62375	2.656000	0.46380	2.068000	0.30429	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.9087:0.0:0.0913	10.427	0.43572	452	0.79239	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1159.43	36	chr1	224617189	.	C	A	1159.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.026;DP=433;ExcessHet=0;FS=2.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=1.78;SOR=0.91	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1171,0,1076	9	0	1	0
chr1	228294842	228294842	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon43:c.G11458A:p.V3820M,OBSCN:NM_052843:exon43:c.G11458A:p.V3820M,OBSCN:NM_001271223:exon48:c.G12745A:p.V4249M	.	0	1521	1	0	0	1	0.000328623	.	.	.	1789303	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.108	0.0029611393849	8.2e-05	.	4.971e-05	0	0	0.0005	0	1.5e-05	0	6.056e-05	3.88e-05	6	154602	rs371818048	2.875e-05	2.873e-05	1.634e-05	4.129e-05	0.0002	2.153e-05	1.909e-05	0.0001	0.0001	2.989e-05	6.734e-05	0	0.0002	1.873e-05	0	1.08e-05	1.657e-05	0.0002	4.601e-05	4.595e-05	2.573e-05	6.721e-05	0.0002	2.11e-05	1.527e-05	6.275e-05	4.295e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.036	0.43393	D	0.012	0.69154	D	0.137	0.64070	B	0.027	0.56930	B	0.617039	0.05734	N	1.210850	1	0.08975	N	0.795	0.19620	N	3.42	0.05507	T	-0.73	0.21644	N	0.093	0.09914	-0.9528	0.40485	T	0.041	0.17488	T	10	0.11753315	0.22198	T	0.002961	0.06309	T	0.108	0.30607	.	.	0.0954503805726	0.09146	0.05251743736582365	0.05193	0.0931597170186	0.10528	0.218760341406	0.01239	T	0.031219	0.21942	T	-0.449387	0.01139	T	-0.574422	0.15046	T	0.0319732121479949	0.02302	T	0.0372963	0.00314	T	0.034858607	0.03992	0.05739778	0.10427	0.034858607	0.03991	0.05739778	0.10426	-5.078	0.42820	T	.	.	0.085	0.10400	B	.;.;.;.;.	.;.;.;.;.	0.729372	0.10985	7.647	0.79170518590379479	0.12622	0.00127	0.00790	N	AEFBI	0.024789	0.01590	N	-1.18676425350641	0.05200	0.2364685	-1.28121666968211	0.04684	0.2215374	1.55386502629633E-4	0.05650	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.22	1.59	0.22622	0.224000	0.17520	-0.417000	0.09309	-2.657000	0.00221	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.8641:0.0:0.1359:0.0	12.982	0.57974	437	0.80299	.;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;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	4195.43	39	chr1	228294842	.	G	A	4195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=692;ExcessHet=0;FS=0.869;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.239;SOR=0.621	GT:AD:DP:GQ:PL	0/1:148,162:310:99:4207,0,3549	9	0	1	0
chr1	229594944	229594944	T	C	exonic	TAF5L	.	nonsynonymous SNV	TAF5L:NM_014409:exon5:c.A1123G:p.T375A	.	424	1070	28	0	0	28	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.041030562328	0.0018	0.000798722	0.0018	0.0002	0.0017	0	0.0002	0.0022	0.0011	0.0028	0.0016753	259	154602	rs41304137	0.0015	0.0015	0.0014	0.0017	0.0075	0.0015	0.0015	0.0057	0.0051	0.0002	0.0021	0.0035	0	3.744e-05	0.0075	0.0015	0.0021	0.0025	0.0014	0.0014	0.0016	0.0012	0.0022	0.0012	0.0012	0.0019	0.0018	0.0001	0	0.0016	0.0043	0	0	0.0034	0.0022	0.0033	0.0019	0.002	0.72154	D	0.028	0.54934	D	0.998	0.73220	D	0.905	0.64260	P	0.000002	0.62929	D	0.134455	0.999991	0.58761	D	0.845	0.21182	L	-1.46	0.80983	T	-3.35	0.66436	D	0.435	0.47395	-0.2505	0.76346	T	0.434	0.77452	T	10	0.013750076	0.00291	T	0.041031	0.59702	D	0.490	0.77720	.	.	0.769446296808	0.76733	0.29677258180428256	0.29590	1.12360715339	0.78375	0.678666114807	0.64078	T	0.301206	0.67366	T	-0.236463	0.15802	T	-0.117366	0.62018	T	0.0680710538834115	0.08378	T	0.857914	0.54791	D	0.4239527	0.62354	0.47594044	0.69633	0.4239527	0.62355	0.47594044	0.69634	-5.77	0.44312	T	.	.	0.096	0.16054	B	.;.	.;.	4.074489	0.60568	24.2	0.9983002637239563	0.91198	0.98171	0.80217	D	AEFDBI	0.651621	0.62531	D	0.382703484073972	0.60485	4.237883	0.438231524770192	0.63965	4.641191	0.999994111094632	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.88	4.75	0.59954	6.270000	0.72545	7.850000	0.70922	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1321:0.8678	13.298	0.59746	520	0.74355	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.005051	0.008152	0.005848	0.000000	0.017241	0.015244	0.022727	0.05	2677.43	43	chr1	229594944	.	T	C	2677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.09;DP=560;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.449;SOR=0.68	GT:AD:DP:GQ:PL	0/1:99,110:209:99:2689,0,2432	9	0	1	0
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K,URB2:NM_014777:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	151.3	117	chr1	229659277	.	G	A	151.3	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-2.176;DP=843;ExcessHet=0.2348;FS=268.231;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=1;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=1.22;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,39:122:96:.:.:96,0,1388:.	0	0	2	8
chr1	230710441	230710441	G	A	exonic	AGT	.	nonsynonymous SNV	AGT:NM_001382817:exon2:c.C383T:p.T128M,AGT:NM_001384479:exon2:c.C383T:p.T128M	Renal tubular dysgenesis, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	732255	Essential_hypertension,_genetic|Renal_tubular_dysgenesis_of_genetic_origin|AGT-related_disorder|not_provided|Renal_tubular_dysgenesis	MONDO:MONDO:0007781,MedGen:CN305331,OMIM:145500|MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.274	0.0650232041908	0.0037	0.00219649	0.0032	0.0011	0.0006	0.0001	0.0006	0.0038	0.0011	0.0065	0.003247	502	154602	rs34829218	0.0050	0.0050	0.0051	0.0050	0.0062	0.0050	0.0049	0.0058	0.0056	0.0013	0.0012	0.0023	0.0001	0.0004	0.0017	0.0056	0.0066	0.0062	0.0032	0.0032	0.0036	0.0027	0.0056	0.0030	0.0029	0.0048	0.0046	0.0014	0	0.0025	0.0020	0.0004	9.407e-05	0	0.0052	0.0005	0.0056	0.168	0.23007	T	0.305	0.20037	T	0.62	0.39915	P	0.106	0.31143	B	0.611642	0.05704	N	1.180660	1	0.08975	N	1.89	0.50145	L	-1.79	0.83815	D	-0.3	0.11913	N	0.15	0.15328	-0.8007	0.55103	T	0.263	0.63383	T	10	0.015063405	0.00316	T	0.065023	0.69454	D	0.274	0.59007	.	.	0.848757901837	0.84730	0.24359545680352862	0.24273	0.0681984301376	0.07639	0.236947342753	0.02522	T	0.255942	0.62680	T	-0.469362	0.00858	T	-0.444371	0.28320	T	0.00722227715113186	0.00083	T	0.573243	0.20505	T	0.060462918	0.12410	0.062347665	0.12184	0.060462918	0.12410	0.062347665	0.12183	-3.837	0.21358	T	.	.	0.084	0.09772	B	.	.	1.324243	0.17287	13.07	0.88818795352835911	0.18281	0.06668	0.12687	N	AEFDBCI	0.385052	0.46594	N	-0.999996565577523	0.08604	0.4040506	-1.09620397908141	0.07774	0.379504	0.999995389417063	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.09	-2.34	0.06321	0.689000	0.25118	1.147000	0.24451	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.5684:0.0:0.4316:0.0	11.791	0.51343	934	0.15400	Serpin domain|Serpin domain|Angiotensinogen serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2634.43	35	chr1	230710441	.	G	A	2634.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=563;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.367;SOR=0.696	GT:AD:DP:GQ:PL	0/1:108,104:212:99:2646,0,2651	9	0	1	0
chr1	230990117	230990117	G	A	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon3:c.G302A:p.G101E,ARV1:NM_022786:exon3:c.G302A:p.G101E	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	436	1043	41	2	0	45	0.0211168	.	.	.	707195	not_provided|ARV1-related_disorder	MedGen:C3661900|MedGen:CN235539	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0046	0.00519169	0.0056	0.0011	0.0016	0	0.0005	0.0044	0.0066	0.0216	0.0054204	838	154602	rs35764859	0.0068	0.0068	0.0064	0.0072	0.0203	0.0067	0.0067	0.0195	0.0191	0.0012	0.0020	0.0050	7.62e-05	0.0004	0.0126	0.0066	0.0089	0.0203	0.0041	0.0041	0.0043	0.0039	0.0195	0.0038	0.0037	0.0163	0.0151	0.0010	0	0.0033	0.0032	0	0.0003	0.0204	0.0061	0.0038	0.0195	0.377	0.17761	T	0.817	0.39492	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.055422	1	0.81001	D	1.75	0.45442	L	1.04	0.40218	T	-2.05	0.53577	N	0.84	0.83576	-1.0017	0.29430	T	0.138	0.45583	T	10	0.012885034	0.00275	T	.	.	.	0.256	0.56694	.	.	0.902235681755	0.90125	0.7012005147172009	0.70061	0.783812259885	0.65410	0.61260843277	0.54685	T	0.132561	0.51226	T	-0.30417	0.08272	T	-0.193439	0.55267	T	0.0165582415434583	0.00418	T	0.930707	0.74322	D	0.6035068	0.72879	0.68881744	0.81694	0.629531	0.74274	0.68881744	0.81694	-9.63	0.71665	D	0.4046614240751881	0.49594	0.487	0.73409	A	.;.	.;.	5.299921	0.88975	29.8	0.99815137079353544	0.89885	0.98673	0.85416	D	AEFBI	0.927170	0.90941	D	0.586677778091351	0.72343	5.790699	0.659699080626773	0.79335	7.060692	0.999999999999997	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.17	6.17	0.99707	7.584000	0.81862	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	801	0.44448	.;.	.	.	.	.	.	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	0.017120	0.005051	0.010870	0.032164	0.000000	0.017241	0.021341	0.003788	0.05	888.43	33	chr1	230990117	.	G	A	888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=372;ExcessHet=0;FS=11.792;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.478;SOR=2.116	GT:AD:DP:GQ:PL	0/1:36,31:67:99:900,0,997	9	0	1	0
chr1	247429610	247429610	A	G	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon5:c.A2176G:p.S726G,NLRP3:NM_001243133:exon5:c.A2176G:p.S726G,NLRP3:NM_004895:exon5:c.A2182G:p.S728G,NLRP3:NM_001079821:exon6:c.A2176G:p.S726G	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	231483	not_provided|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Familial_cold_autoinflammatory_syndrome_1|Cryopyrin_associated_periodic_syndrome|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|NLRP3-related_disorder|Autoinflammatory_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	0.0411947171493	0.0005	0.000199681	0.0005	9.713e-05	0.0002	0	0	0.0007	0.0022	0.0005	0.0004398	68	154602	rs147946775	0.0009	0.0009	0.0010	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	5.974e-05	0.0003	0	0	0.0002	0	0.0011	0.0006	0.0006	0.0005	0.0005	0.0006	0.0003	0.0008	0.0004	0.0003	0.0007	0.0006	0.0002	0	0.0003	0	0	0	0.0034	0.0008	0.0009	0	0.139	0.25873	T	0.222	0.64786	T	0.009	0.68779	B	0.004	0.62049	B	0.016499	0.27965	N	0.257437	1	0.08975	N	.	.	.	0.6	0.53731	T	-1.76	0.41618	N	0.279	0.32037	-0.9738	0.36387	T	0.176	0.52084	T	10	0.022883028	0.00583	T	0.041195	0.59795	D	0.038	0.09825	.	.	0.949384705857	0.94885	0.3841348814436495	0.38328	0.420246171216	0.42557	0.27722170949	0.07108	T	0.223883	0.58815	T	-0.45094	0.01115	T	-0.498508	0.22502	T	0.0239688560245489	0.01142	T	0.0380962	0.01457	T	0.08673594	0.20171	0.055595174	0.09783	0.08007643	0.18329	0.056004256	0.09928	-4.141	0.29475	T	.	.	0.066	0.03773	B	.;.;.;.;.	.;.;.;.;.	1.360880	0.17698	13.32	0.99278829188562556	0.57834	0.04714	0.10406	N	AEFDBI	0.094929	0.19187	N	-0.659865494959964	0.17174	0.8814577	-0.756988247753405	0.15550	0.8184156	0.572682051226211	0.21505	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.31	2.02	0.25641	0.238000	0.17782	.	.	0.743000	0.86499	0.000000	0.06391	0.014000	0.20376	0.393000	0.26625	0.7736:0.0:0.2264:0.0	5.365	0.15413	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1570.43	34	chr1	247429610	.	A	G	1570.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.772;DP=461;ExcessHet=0;FS=3.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.353;SOR=0.961	GT:AD:DP:GQ:PL	0/1:82,73:155:99:1582,0,2029	9	0	1	0
chr1	248038745	248038745	G	A	exonic	OR2L2	.	nonsynonymous SNV	OR2L2:NM_001004686:exon1:c.G478A:p.V160I	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00197246020742	0.0019	0.000798722	0.0015	0.0004	0.0008	0	0.0005	0.0024	0	0.0005	0.0014942	231	154602	rs146509597	0.0021	0.0021	0.0021	0.0021	0.0025	0.0020	0.0020	0.0025	0.0024	0.0003	0.0006	7.652e-05	0	0.0005	0.0012	0.0025	0.0016	0.0007	0.0011	0.0011	0.0011	0.0012	0.0020	0.0010	0.0009	0.0018	0.0017	0.0004	0	0.0007	0	0	0.0002	0	0.0020	0.0009	0.0004	0.389	0.10874	T	0.679	0.06128	T	0.001	0.07471	B	0.02	0.19048	B	0.143394	0.02903	U	2.120970	1	0.08975	N	0.15	0.08895	N	1.22	0.37052	T	-0.69	0.19720	N	0.057	0.02861	-1.0199	0.23747	T	0.070	0.28577	T	10	0.0074587166	0.00169	T	0.001972	0.03535	T	0.009	0.00846	.	.	0.0551355673512	0.04727	0.03582228898664548	0.03529	0.0154856023659	0.01475	0.201332330704	0.00497	T	0.003716	0.03121	T	-0.679017	0.00049	T	-0.752129	0.03404	T	0.000255671766353771	0.00002	T	0.728627	0.34357	T	0.039619584	0.05505	0.031232359	0.01685	0.039619584	0.05504	0.031232359	0.01685	-3.835	0.21328	T	.	.	0.077	0.07083	B	.;.;.	.;.;.	-0.687930	0.01349	0.075	0.5580624574880515	0.05419	0.00808	0.03281	N	AEFDI	0.021197	0.00918	N	-1.25312094537153	0.04258	0.1918495	-1.37374089245119	0.03534	0.1650454	1.52753510087019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.9	-1.73	0.07646	-3.213000	0.00614	-20.000000	0.00162	-2.337000	0.00312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3611:0.0:0.6389:0.0	7.001	0.23988	912	0.21483	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	5287.43	33	chr1	248038745	.	G	A	5287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.167;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.721;SOR=0.689	GT:AD:DP:GQ:PL	0/1:158,197:355:99:5299,0,4314	9	0	1	0
chr1	248239536	248239536	G	T	exonic	OR2M4	.	nonsynonymous SNV	OR2M4:NM_017504:exon1:c.G608T:p.C203F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00354842020129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263209670	3.42e-06	3.42e-06	0	6.875e-06	4.637e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	1.656e-05	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000320	0.45977	D	0.000000	1	0.08975	N	2.32	0.66415	M	1.4	0.33630	T	-10.87	0.99235	D	0.146	0.14763	-1.0776	0.07821	T	0.132	0.44288	T	10	0.47378993	0.60021	T	0.003548	0.08092	T	0.113	0.31778	0.549	0.66436	0.890235384139	0.88915	0.19755784199407003	0.19672	0.709099904505	0.61589	0.273340344429	0.06581	T	0.031095	0.21883	T	-0.267607	0.12025	T	-0.440648	0.28735	T	0.999064981937408	0.96056	D	0.730727	0.34650	T	0.83167213	0.86019	0.51425076	0.71933	0.83167213	0.86020	0.51425076	0.71934	-8.784	0.66296	D	.	.	0.212	0.43989	B	.;.	.;.	2.746029	0.35978	20.1	0.98609727965185545	0.43625	0.02409	0.06817	N	AEFI	0.064070	0.12420	N	-0.0129268087829543	0.41271	2.46556	-0.176741649294746	0.32393	1.842525	2.98272819703517E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.34	2.31	0.27816	-1.166000	0.03239	-0.992000	0.06676	0.593000	0.32247	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.1786:0.6394:0.182	7.375	0.25994	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2920.43	50	chr1	248239536	.	G	T	2920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.05;DP=593;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-1.101;SOR=0.642	GT:AD:DP:GQ:PL	0/1:104,101:205:99:2932,0,2794	9	0	1	0
chr1	248273651	248273651	G	C	exonic	OR2T33	.	nonsynonymous SNV	OR2T33:NM_001004695:exon1:c.C164G:p.T55R	.	464	1053	1	0	4	5	0.000474608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.000823765542666	.	0.00219649	0.0003	0.0014	0	0.0001	0	0.0003	0	0	0.0004226	11	26028	rs200099241	0.0004	0.0009	0.0004	0.0004	0.0021	0.0004	0.0004	0.0017	0.0016	0.0021	6.719e-05	0.0020	0.0002	3.744e-05	0.0007	0.0004	0.0005	6.958e-05	0.0025	0.0068	0.0026	0.0023	0.0076	0.0022	0.0022	0.0069	0.0066	0.0076	0	0.0007	0.0029	0	9.427e-05	0	0.0005	0.0024	0	0.034	0.44029	D	0.032	0.53426	D	0.052	0.22494	B	0.07	0.27859	B	0.002679	0.36137	U	0.000000	0.561935	0.31249	N	2.87	0.83286	M	7.12	0.00443	T	-4.15	0.75297	D	0.239	0.26957	-1.1117	0.02928	T	0.002	0.00738	T	10	0.013262421	0.00282	T	8.24E-4	0.00670	T	0.050	0.13987	.	.	0.387366425376	0.38348	0.3707034820033098	0.36984	1.23414605163	0.81429	0.229459643364	0.01928	T	0.00804	0.07400	T	-0.447884	0.01162	T	-0.51922	0.20374	T	0.135941162705421	0.15920	T	0.588241	0.21547	T	0.43025655	0.62769	0.36532795	0.61884	0.43025655	0.62769	0.36532795	0.61883	-8.245	0.62727	D	.	.	0.191	0.40968	B	.;.	.;.	1.594117	0.20388	14.72	0.98202979066494933	0.39140	0.06655	0.12673	N	AEFI	0.050669	0.08878	N	-0.422016234625839	0.24698	1.335497	-0.475297457888655	0.22836	1.242368	1.25424676217451E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.7	1.7	0.23359	0.216000	0.17370	-13.341000	0.00465	0.632000	0.51917	0.042000	0.21073	0.000000	0.08366	0.857000	0.40602	0.0:0.1877:0.8123:0.0	11.330	0.48705	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001152	0.012987	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1781.43	52	chr1	248273651	.	G	C	1781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.43;DP=1215;ExcessHet=0;FS=17.271;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.72;MQRankSum=-5.707;QD=5.16;ReadPosRankSum=-0.078;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,91:345:99:0|1:248273651_G_C:1793,0,8275:248273651	9	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	149.87	81	chr2	23864893	.	T	C	149.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.021;DP=546;ExcessHet=4.5998;FS=193.172;InbreedingCoeff=-0.4024;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.279;SOR=8.069	GT:AD:DP:GQ:PL	0/1:42,11:53:24:24,0,571	4	0	6	0
chr2	27364573	27364573	G	A	exonic	EIF2B4	.	nonsynonymous SNV	EIF2B4:NM_001318965:exon12:c.C1462T:p.R488W,EIF2B4:NM_001318968:exon12:c.C814T:p.R272W,EIF2B4:NM_172195:exon12:c.C1459T:p.R487W,EIF2B4:NM_001034116:exon13:c.C1399T:p.R467W,EIF2B4:NM_001318966:exon13:c.C1354T:p.R452W,EIF2B4:NM_001318967:exon13:c.C1306T:p.R436W,EIF2B4:NM_001318969:exon13:c.C781T:p.R261W,EIF2B4:NM_015636:exon13:c.C1396T:p.R466W	Leukoencephaly with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	271696	Leukoencephalopathy_with_vanishing_white_matter_4|not_provided|Vanishing_white_matter_disease	MONDO:MONDO:0957872,MedGen:C5830406,OMIM:620314|MedGen:C3661900|MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.840	0.393907724022	7.7e-05	.	2.471e-05	9.612e-05	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs138249238	3.147e-05	3.147e-05	3.947e-05	2.338e-05	2.878e-05	2.412e-05	2.157e-05	2.082e-05	1.782e-05	0	0	0	0	0.0002	0	2.878e-05	8.279e-05	0	3.944e-05	3.94e-05	2.57e-05	5.382e-05	7.35e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.414e-05	0	0	0	0	0	0	7.35e-05	0	0	0.01	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	-3.09	0.92613	D	-3.92	0.73151	D	0.757	0.85766	0.926	0.96039	D	0.870	0.95674	D	10	0.9064431	0.90009	D	0.393908	0.93249	D	0.840	0.94989	.	.	0.93300369908	0.93231	0.8080112056559952	0.80756	0.927717698686	0.71705	0.56323492527	0.47724	T	0.06959	0.90063	T	0.318639	0.84374	D	0.401454	0.92161	D	0.913488507270813	0.56977	D	0.957704	0.84069	D	0.3363513	0.55987	0.29249954	0.55277	0.34061995	0.56329	0.3474352	0.60397	-9.68	0.71974	D	.	.	0.098	0.24123	B	.;.;.;.;.	.;.;.;.;.	4.883713	0.80116	27.3	0.99900498545706573	0.97275	0.95625	0.65473	D	AEFBHCI	0.665909	0.63456	D	0.507178151025696	0.67512	5.091707	0.384674933891336	0.60621	4.251573	0.99999173209715	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.11	4.2	0.48814	3.158000	0.50422	7.399000	0.58563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.522000	0.29520	0.0:0.0:0.8348:0.1652	13.800	0.62682	321	0.86949	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5503.12	35	chr2	27364573	.	G	A	5503.12	.	AC=2;AF=0.1;AN=20;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.63;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,174:174:99:5526,521,0	9	1	0	0
chr2	29071203	29071203	T	C	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.A3059G:p.Q1020R	.	0	1503	19	0	0	19	0.00628099	.	.	.	190300	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	.	0.0002	0.00279553	0.0086	0.0024	0.0024	0	0.0121	0.0128	0.0074	0.0010	0.0068757	1063	154602	rs200367963	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0018	0.0029	0.0169	0	0.0115	0.0056	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0089	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.117	0.28271	T	0.323	0.18959	T	0.063	0.23376	B	0.018	0.18489	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.01	0.21291	T	-3.06	0.63090	D	0.084	0.06059	-0.9912	0.32295	T	0.041	0.17700	T	10	0.0048058033	0.00102	T	.	.	.	0.026	0.05648	.	.	0.249502417897	0.24576	0.21886280284673723	0.21802	0.0140011853721	0.01334	.	.	.	0.019667	0.15628	T	-0.567802	0.00228	T	-0.57899	0.14634	T	0.00539879757628147	0.00059	T	0.376562	0.08996	T	0.16208237	0.36261	0.17164351	0.39362	0.1437882	0.33031	0.17164351	0.39361	-3.378	0.14762	T	.	.	0.103	0.18539	B	.	.	1.436758	0.18559	13.80	0.98913200757516251	0.48418	0.42764	0.26950	N	AEFDBI	0.121755	0.23657	N	-0.644156492515505	0.17630	0.9088619	-0.611557115836324	0.19196	1.028853	0.109324984171799	0.16604	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	1.51	0.22094	0.539000	0.22885	0.395000	0.17934	0.609000	0.47794	0.152000	0.23684	0.953000	0.29079	0.385000	0.26447	0.1293:0.2894:0.0:0.5813	5.306	0.15116	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006552	0.005051	0.000000	0.000000	0.050000	0.000000	0.030488	0.007576	0.15	12536.4	34	chr2	29071203	.	T	C	12536.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.883;DP=802;ExcessHet=0;FS=3.241;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=32.14;ReadPosRankSum=1.98;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,196:196:99:1|1:29071203_T_C:8650,590,0:29071203	8	1	1	0
chr2	29071204	29071204	G	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C3058A:p.Q1020K	.	0	1507	15	0	0	15	0.00495213	.	.	.	190299	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	.	.	0.00279553	0.0085	0.0024	0.0024	0	0.0121	0.0127	0.0074	0.0010	0.0068693	1062	154602	rs201355503	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0017	0.0029	0.0169	0	0.0115	0.0053	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0088	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.148	0.24857	T	0.356	0.17166	T	0.454	0.36182	P	0.09	0.29851	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.0	0.21473	T	-3.06	0.63090	D	0.25	0.28264	-1.0517	0.13926	T	0.051	0.21611	T	10	0.0063916743	0.00145	T	.	.	.	0.105	0.29889	.	.	0.393316636838	0.38940	0.2500554077571631	0.24919	0.0237916299832	0.02408	.	.	.	0.034351	0.23286	T	-0.541652	0.00328	T	-0.541427	0.18156	T	0.0217380883788979	0.00880	T	0.458954	0.13262	T	0.35774997	0.57664	0.20621154	0.44825	0.30511588	0.53360	0.20621154	0.44824	-3.734	0.19821	T	.	.	0.123	0.25689	B	.	.	3.092638	0.41652	21.4	0.98464053864446577	0.41780	0.67894	0.33599	D	AEFDBI	0.114024	0.22475	N	-0.131883062482818	0.36009	2.075708	-0.0888338562462418	0.35850	2.079073	0.590696172868296	0.21644	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	4.38	0.52019	2.585000	0.45776	8.340000	0.76993	0.526000	0.24426	0.441000	0.26495	1.000000	0.68203	0.475000	0.28453	0.0:0.1335:0.728:0.1385	11.656	0.50578	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006552	0.005051	0.000000	0.000000	0.050000	0.000000	0.030488	0.007576	0.15	12536.4	34	chr2	29071204	.	G	T	12536.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.082;DP=800;ExcessHet=0;FS=3.241;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=32.14;ReadPosRankSum=1.86;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,196:196:99:1|1:29071203_T_C:8650,590,0:29071203	8	1	1	0
chr2	38074704	38074704	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon2:c.G685A:p.E229K	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1411	106	5	0	116	0.0394826	.	.	.	79359	not_provided|Irido-corneo-trabecular_dysgenesis|Congenital_glaucoma|Congenital_ocular_coloboma|not_specified|Glaucoma_3A	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MONDO:MONDO:0020366,MedGen:C0020302|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MedGen:CN169374|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign|other	.	.	.	.	.	.	.	.	0.395	.	0.0037	0.0103834	0.0142	0.0017	0.0025	0	0.0040	0.0098	0.0214	0.0562	0.0107955	1669	154602	rs57865060	0.0085	0.0085	0.0070	0.0101	0.0518	0.0084	0.0083	0.0506	0.0501	0.0010	0.0021	0.0101	5.041e-05	0.0026	0.0206	0.0061	0.0088	0.0518	0.0062	0.0062	0.0055	0.0069	0.0503	0.0059	0.0057	0.0451	0.0431	0.0008	0	0.0034	0.0118	0.0004	0.0023	0.0102	0.0078	0.0076	0.0503	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.000014	0.62929	D	0.111194	0.999619	0.47849	D	1.57	0.39626	L	.	.	.	.	.	.	0.697	0.70351	-0.8290	0.53365	T	0.124	0.42841	T	10	0.004917532	0.00105	T	.	.	.	.	.	.	.	.	.	0.5846823461645314	0.58398	.	.	0.597627282143	0.52569	T	0.457736	0.79599	T	-0.163042	0.26294	T	0.029531	0.72247	D	0.026333973035908	0.01451	T	0.933007	0.74900	D	0.62011653	0.73769	0.7128727	0.83058	0.72305995	0.79334	0.68006516	0.81203	-9.726	0.72255	D	.	.	0.244	0.53261	B	.;.	.;.	3.594627	0.50741	23.0	0.99863475441628191	0.94184	0.79813	0.39624	D	AEFDGBHCI	0.475083	0.51907	N	0.142951330129671	0.48478	3.059665	0.201290397305074	0.49920	3.189551	0.999999999999926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.65	3.77	0.42499	2.673000	0.46524	3.320000	0.37537	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.9053:0.0:0.0947	10.465	0.43786	922	0.19044	.;.	EIF2AK2	Cells_Cultured_fibroblasts	.	.	rs57865060	Likely benign	0	0	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	0.018182	0.005102	0.008152	0.017544	0.050000	0.008621	0.024540	0.049242	0.1	6328.12	34	chr2	38074704	.	C	T	6328.12	.	AC=2;AF=0.1;AN=20;DP=501;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.79;SOR=0.703	GT:AD:DP:GQ:PL	1/1:0,193:193:99:6351,579,0	9	1	0	0
chr2	54643117	54643117	C	A	exonic	SPTBN1	.	nonsynonymous SNV	SPTBN1:NM_178313:exon18:c.C3954A:p.D1318E,SPTBN1:NM_003128:exon19:c.C3993A:p.D1331E	.	431	1088	3	0	0	3	0.00137678	.	.	.	2815786	not_provided|SPTBN1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.00242180867171	0.0042	0.000798722	0.0036	0.0010	0.0015	0	0.0029	0.0056	0.0044	0.0007	0.0036934	571	154602	rs144815582	0.0053	0.0053	0.0054	0.0052	0.0061	0.0052	0.0052	0.0060	0.0059	0.0007	0.0020	0.0077	2.519e-05	0.0048	0.0017	0.0061	0.0054	0.0010	0.0042	0.0042	0.0047	0.0037	0.0069	0.0040	0.0038	0.0064	0.0062	0.0009	0.0362	0.0018	0.0081	0	0.0035	0	0.0069	0.0028	0.0010	0.687	0.04340	T	0.956	0.03399	T	0.0	0.09854	B	0.009	0.16012	B	0.000076	0.52346	D	0.196913	0.957819	0.38043	D	0.18	0.09070	N	1.4	0.33630	T	-0.5	0.17210	N	0.133	0.12913	-1.0680	0.09858	T	0.042	0.18035	T	10	0.009002894	0.00204	T	0.002422	0.04757	T	0.053	0.14996	0.346	0.34112	0.436739265542	0.43292	0.3682441680426455	0.36738	0.817318788461	0.66998	0.399248808622	0.24963	T	0.312995	0.68477	T	-0.572155	0.00215	T	-0.587389	0.13893	T	0.0125999643201656	0.00210	T	0.782022	0.41734	T	0.10338055	0.24434	0.084004246	0.19293	0.10338055	0.24434	0.084004246	0.19293	-2.2	0.05600	T	.	.	0.114	0.25429	B	.;.;.	.;.;.	2.748004	0.36012	20.1	0.54165806149982321	0.05083	0.96321	0.68567	D	AEFBI	0.543016	0.55852	D	-0.227099513551954	0.32024	1.801788	0.00450927799252095	0.39925	2.374617	0.999998095312445	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	1.342000	0.33524	3.360000	0.37852	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.8581:0.1419:0.0	16.199	0.81876	781	0.47532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002026	0.005102	0.002725	0.000000	0.000000	0.008621	0.000000	0.000000	0.1	3007.12	34	chr2	54643117	.	C	A	3007.12	.	AC=2;AF=0.1;AN=20;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.33;SOR=1.661	GT:AD:DP:GQ:PL	1/1:0,93:93:99:3030,279,0	9	1	0	0
chr2	70964973	70964973	G	A	exonic	ATP6V1B1	.	nonsynonymous SNV	ATP6V1B1:NM_001692:exon14:c.G1394A:p.R465H	Renal tubular acidosis with deafness, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	178236	Renal_tubular_acidosis_with_progressive_nerve_deafness|not_specified|not_provided	MONDO:MONDO:0009968,MedGen:C0403554,OMIM:267300,Orphanet:93611|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.828	.	0.0025	0.0061901	0.0035	0.0075	0.0003	0.0046	0	0.0002	0.0033	0.0170	0.0031047	480	154602	rs142905621	0.0015	0.0015	0.0011	0.0019	0.0153	0.0015	0.0014	0.0147	0.0144	0.0076	0.0003	0	0.0060	0	0.0035	0.0002	0.0027	0.0153	0.0031	0.0031	0.0030	0.0032	0.0168	0.0028	0.0028	0.0138	0.0127	0.0076	0	0.0012	0	0.0058	0	0.0034	0.0003	0.0024	0.0168	0.0	0.91255	D	0.022	0.57587	D	1.0	0.90584	D	0.973	0.72923	D	0.000149	0.49130	D	0.000000	0.999959	0.52396	D	3.51	0.92865	H	-1.1	0.77336	T	-3.42	0.67241	D	0.814	0.80964	0.403	0.89140	D	0.586	0.85131	D	10	0.0092583	0.00209	T	.	.	.	0.828	0.94541	.	.	0.95792341004	0.95747	0.7600005871969095	0.75948	1.12815551387	0.78511	0.545493364334	0.45222	T	0.802041	0.94963	D	0.0258883	0.55174	T	0.277384	0.86985	D	0.0668853237405869	0.08206	T	0.999	0.99243	D	0.74366266	0.80502	0.74012125	0.84638	0.6942448	0.77744	0.7570738	0.85645	-11.369	0.81642	D	0.7549529545501241	0.83695	0.729	0.74794	P	.;.;.	.;.;.	5.790736	0.93567	33	0.99946741374590364	0.99913	0.91468	0.53595	D	ALL	0.926492	0.90768	D	0.834722817885169	0.88221	9.497847	0.729656684466395	0.84630	8.345883	0.999999999999999	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.81	3.81	0.43020	10.003000	0.99689	9.822000	0.81809	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	13.252	0.59487	829	0.39537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.015152	0.05	1722.43	37	chr2	70964973	.	G	A	1722.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.683;DP=516;ExcessHet=0;FS=1.189;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-1.563;SOR=0.591	GT:AD:DP:GQ:PL	0/1:103,76:179:99:1734,0,2519	9	0	1	0
chr2	79158731	79158731	G	T	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.C115A:p.R39S,REG3A:NM_002580:exon3:c.C115A:p.R39S,REG3A:NM_138937:exon3:c.C115A:p.R39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00112225708441	.	.	2.493e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs141740162	3.437e-06	0.0007	1.366e-06	5.532e-06	3.554e-05	1.01e-06	7.3e-07	9.44e-06	4.62e-06	0	2.28e-05	0	0	0	0	9.017e-07	0	3.554e-05	6.645e-06	0.0009	0	1.361e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.037403	0.24405	N	0.400827	1	0.08975	N	-2.765	0.00026	N	2.64	0.12780	T	3.27	0.00108	N	0.061	0.03502	-0.9351	0.43379	T	0.007	0.02244	T	10	0.08776298	0.15048	T	0.001122	0.01360	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.23763958079538905	0.23677	0.0547631763429	0.06061	0.20862942934	0.00754	T	0.021425	0.16689	T	-0.398869	0.02355	T	-0.810724	0.01649	T	0.0314632799417354	0.02220	T	0.0610939	0.00444	T	0.24203835	0.47127	0.078462504	0.17576	0.24203835	0.47126	0.078462504	0.17575	-1.334	0.01457	T	.	.	0.132	0.28778	B	.;.;.	.;.;.	0.622617	0.09910	6.670	0.71659157753313818	0.09704	0.00024	0.00244	N	AEFGI	0.042367	0.06565	N	-1.53127221375122	0.01647	0.07204684	-1.40102100368093	0.03242	0.1508413	1.10306997856234E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.83	2.66	0.30672	1.142000	0.31152	-0.207000	0.10889	-0.832000	0.02862	0.480000	0.26800	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.2961:0.7039	7.457	0.26440	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	395.43	34	chr2	79158731	.	G	T	395.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.11;DP=579;ExcessHet=0;FS=41.519;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.4;MQRankSum=-11.83;QD=2.13;ReadPosRankSum=-4.96;SOR=5.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,23:186:99:0|1:79158731_G_T:407,0,6542:79158731	9	0	1	0
chr2	79158740	79158740	C	G	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.G106C:p.A36P,REG3A:NM_002580:exon3:c.G106C:p.A36P,REG3A:NM_138937:exon3:c.G106C:p.A36P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00119945206927	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879246680	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.615e-06	9.867e-05	0	1.355e-05	2.434e-05	0	0	.	.	2.434e-05	0	0	0	0	0	0	0	0	0	0.581	0.05973	T	0.505	0.11004	T	0.0	0.02946	B	0.001	0.04355	B	0.535357	0.11593	N	0.756680	1	0.08975	N	-0.53	0.02533	N	2.42	0.15376	T	2.33	0.00281	N	0.054	0.02759	-0.9463	0.41599	T	0.018	0.07282	T	10	0.027589142	0.00903	T	0.001199	0.01558	T	0.004	0.00165	.	.	0.0716867268079	0.06686	0.33399060644688777	0.33312	0.0611122652635	0.06801	0.238550752401	0.02661	T	0.032509	0.22518	T	-0.424626	0.01599	T	-0.847722	0.00989	T	0.074214801539753	0.09230	T	0.079692	0.00587	T	0.15057418	0.34273	0.08919294	0.20842	0.15057418	0.34272	0.08919294	0.20841	-3.45	0.15738	T	.	.	0.069	0.03336	B	.;.;.	.;.;.	-1.318655	0.00423	0.008	0.77301282109243619	0.11819	0.00151	0.00912	N	AEFGI	0.031644	0.03426	N	-1.79722693943582	0.00552	0.02376501	-1.84703743509883	0.00620	0.02755625	2.8203287188887E-4	0.06355	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.62	-3.84	0.03976	-1.654000	0.02086	-3.050000	0.03106	-3.544000	0.00077	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0961:0.6064:0.1787:0.1188	6.578	0.21775	956	0.09877	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	183.43	34	chr2	79158740	.	C	G	183.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=557;ExcessHet=0;FS=28.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.35;MQRankSum=-12.94;QD=1.09;ReadPosRankSum=-4.111;SOR=4.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,16:169:99:0|1:79158731_G_T:195,0,6271:79158731	9	0	1	0
chr2	94871904	94871904	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_144705:exon1:c.A325G:p.M109V	.	423	1067	31	1	0	33	0.0152284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00122875723365	.	.	0.0001	0.0005	0	0	0	0.0001	0	0	0.0007568	117	154602	rs77824556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.301	0.20293	T	0.0	0.02946	B	0.0	0.01387	B	0.006010	0.32339	N	0.291643	1	0.08975	N	-1.705	0.00347	N	4.4	0.02215	T	1.17	0.01121	N	0.045	0.01740	-0.9369	0.43103	T	0.002	0.00707	T	10	0.02163878	0.00522	T	0.001229	0.01633	T	0.064	0.18567	.	.	0.107399877778	0.10242	0.11023828764567724	0.10952	0.0293419903988	0.03019	0.716191112995	0.69491	T	0.02647	0.19579	T	-0.332775	0.05903	T	-0.715784	0.05001	T	0.0280548110973322	0.01696	T	0.232777	0.03161	T	0.06496922	0.13836	0.09327323	0.22022	0.06496922	0.13836	0.09327323	0.22021	-2.804	0.08221	T	.	.	0.059	0.00793	B	.	.	0.636446	0.10050	6.799	0.4154982300263122	0.03005	0.05116	0.10920	N	AEFDGBHI	0.024169	0.01454	N	-1.39660453890581	0.02670	0.1182283	-1.38285152646484	0.03434	0.1601971	0.955553942976374	0.28196	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.84	-1.91	0.07225	1.406000	0.34254	2.690000	0.34081	-0.324000	0.05829	0.075000	0.22209	0.999000	0.35428	0.024000	0.12247	0.5824:0.2018:0.2158:0.0	4.088	0.09432	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019231	0.046875	0.023098	0.026316	0.000000	0.008621	0.037037	0.007576	0.05	38.43	40	chr2	94871904	.	A	G	38.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.338;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.38;MQRankSum=-6.006;QD=0.37;ReadPosRankSum=-0.72;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,8:103:50:0|1:94871888_G_A:50,0,3954:94871888	9	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	2261.95	255	chr2	94876587	.	C	A	2261.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.331;DP=2020;ExcessHet=7.0302;FS=4.884;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.43;MQRankSum=-15.6;QD=1.32;ReadPosRankSum=-3.168;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,32:254:99:0|1:94876587_C_A:675,0,9164:94876587	3	0	7	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	12818.0	371	chr2	94876618	.	C	G	12818.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.592;DP=2902;ExcessHet=10.3881;FS=1.546;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.49;MQRankSum=-16.9;QD=4.98;ReadPosRankSum=-3.186;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,79:341:99:0|1:94876587_C_A:2529,0,10764:94876587	2	0	8	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.45	17750.0	414	chr2	94876632	.	C	T	17750.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.235;DP=3296;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.17;MQRankSum=-17.88;QD=5.56;ReadPosRankSum=-1.61;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,105:378:99:0|1:94876587_C_A:3532,0,11044:94876587	1	0	9	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	22415.0	462	chr2	94876671	.	A	G	22415.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.483;DP=3731;ExcessHet=15.1594;FS=0.656;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.88;MQRankSum=-18.99;QD=6.13;ReadPosRankSum=4.6;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,128:434:99:0|1:94876671_A_G:4443,0,12331:94876671	1	0	9	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.45	22825.0	467	chr2	94876674	.	G	A	22825.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.542;DP=3741;ExcessHet=15.1594;FS=0.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.87;MQRankSum=-19.21;QD=6.22;ReadPosRankSum=4.81;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,128:437:99:0|1:94876671_A_G:4434,0,12439:94876671	1	0	9	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4	9474.98	407	chr2	94876731	.	C	T	9474.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.787;DP=3262;ExcessHet=10.3881;FS=2.421;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.44;MQRankSum=-19.06;QD=3.04;ReadPosRankSum=-0.667;SOR=0.952	GT:AD:DP:GQ:PL	0/1:322,95:417:99:1908,0,8246	2	0	8	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3218.11	408	chr2	94876737	.	C	A	3218.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.43;DP=2132;ExcessHet=2.8389;FS=1.922;InbreedingCoeff=-0.3316;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.5;QD=1.67;ReadPosRankSum=-1.101;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:388,36:424:99:0|1:94876737_C_A:331,0,16062:94876737	5	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3284.14	401	chr2	94876740	.	A	C	3284.14	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.303;DP=2122;ExcessHet=2.8389;FS=1.912;InbreedingCoeff=-0.3332;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.57;QD=1.72;ReadPosRankSum=-1.808;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:385,36:421:99:0|1:94876737_C_A:340,0,15970:94876737	5	0	5	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10728.0	198	chr2	95855390	.	T	C	10728.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=3.24;DP=2185;ExcessHet=22.563;FS=21.098;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.81;MQRankSum=-10.64;QD=5.08;ReadPosRankSum=-6.398;SOR=2.057	GT:AD:DP:GQ:PL	0/1:161,57:218:99:1278,0,4335	0	0	10	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29732.0	323	chr2	95855549	.	T	C	29732.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.71;DP=3043;ExcessHet=22.563;FS=10.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.38;MQRankSum=-11.67;QD=10.06;ReadPosRankSum=0.065;SOR=1.292	GT:AD:DP:GQ:PL	0/1:182,127:309:99:2685,0,5121	0	0	10	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	23128.0	277	chr2	95855576	.	A	G	23128.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.388;DP=2563;ExcessHet=22.563;FS=25.938;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.02;MQRankSum=-11.14;QD=9.29;ReadPosRankSum=-3.416;SOR=1.932	GT:AD:DP:GQ:PL	0/1:183,83:266:99:2303,0,5442	0	0	10	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2532.98	278	chr2	95855586	.	T	C	2532.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.765;DP=2381;ExcessHet=10.3881;FS=20.257;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.03;MQRankSum=-5.391;QD=1.31;ReadPosRankSum=-1.294;SOR=2.4	GT:AD:DP:GQ:PL	0/1:211,41:252:99:533,0,8392	2	0	8	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16467.0	271	chr2	95855588	.	T	C	16467.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.817;DP=2387;ExcessHet=22.563;FS=33.426;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=47.27;MQRankSum=-10.54;QD=7.16;ReadPosRankSum=-3.626;SOR=2.329	GT:AD:DP:GQ:PL	0/1:182,62:244:99:1636,0,5597	0	0	10	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	3460.98	101	chr2	95859895	.	T	C	3460.98	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.147;DP=709;ExcessHet=7.0302;FS=1.515;InbreedingCoeff=-0.5391;MLEAC=7;MLEAF=0.35;MQ=58.18;MQRankSum=-1.883;QD=7.09;ReadPosRankSum=-0.362;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,20:64:99:0|1:95859895_T_C:585,0,1744:95859895	3	0	7	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10909.0	176	chr2	95859969	.	A	AT	10909.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.932;DP=1221;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.94;MQRankSum=-7.848;QD=9.05;ReadPosRankSum=0.563;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,41:139:99:0|1:95859969_A_AT:1407,0,3957:95859969	0	0	10	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10942.0	176	chr2	95859970	.	G	T	10942.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.161;DP=1219;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.93;MQRankSum=-7.945;QD=9.05;ReadPosRankSum=0.658;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,41:139:99:0|1:95859969_A_AT:1407,0,3957:95859969	0	0	10	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10894.0	178	chr2	95859975	.	C	T	10894.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.325;DP=1203;ExcessHet=22.563;FS=2.826;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.89;MQRankSum=-7.848;QD=9.12;ReadPosRankSum=0.594;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,40:137:99:0|1:95859969_A_AT:1388,0,3953:95859969	0	0	10	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9586.04	176	chr2	95859988	.	T	C	9586.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.058;DP=1199;ExcessHet=22.563;FS=2.87;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.82;MQRankSum=-7.568;QD=8.1;ReadPosRankSum=-0.168;SOR=0.973	GT:AD:DP:GQ:PL	0/1:97,39:136:99:1138,0,2442	0	0	10	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7776.04	171	chr2	95860002	.	T	A	7776.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.667;DP=1147;ExcessHet=22.563;FS=2.169;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.83;MQRankSum=-6.851;QD=6.85;ReadPosRankSum=-0.911;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,34:128:99:0|1:95860002_T_A:1124,0,3784:95860002	0	0	10	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8461.04	165	chr2	95860007	.	A	T	8461.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.586;DP=1122;ExcessHet=22.563;FS=3.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.81;MQRankSum=-7.219;QD=7.6;ReadPosRankSum=-1.213;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,32:125:99:0|1:95860002_T_A:1043,0,3768:95860002	0	0	10	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7240.04	151	chr2	95860020	.	G	A	7240.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.1;DP=1028;ExcessHet=22.563;FS=5.221;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.247;QD=7.14;ReadPosRankSum=-1.475;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,28:117:99:0|1:95860020_G_A:905,0,3587:95860020	0	0	10	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6874.04	150	chr2	95860023	.	A	C	6874.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.07;DP=1000;ExcessHet=22.563;FS=6.519;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.331;QD=6.9;ReadPosRankSum=-1.636;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,27:116:99:0|1:95860020_G_A:866,0,3590:95860020	0	0	10	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	4291.02	127	chr2	95860046	.	C	A	4291.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.879;DP=789;ExcessHet=15.1594;FS=10.476;InbreedingCoeff=-0.8183;MLEAC=9;MLEAF=0.45;MQ=58.48;MQRankSum=-7.511;QD=5.8;ReadPosRankSum=-0.896;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,18:96:99:.:.:522,0,1989:.	1	0	9	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6780.01	153	chr2	95927222	.	G	GAT	6780.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.39;DP=1300;ExcessHet=22.563;FS=36.882;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.27;MQRankSum=-8.534;QD=5.25;ReadPosRankSum=-4.266;SOR=3.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,23:114:99:0|1:95927222_G_GAT:692,0,3752:95927222	0	0	10	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10021.0	172	chr2	95927226	.	GTT	G	10021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.93;DP=1457;ExcessHet=22.563;FS=15.566;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.12;MQRankSum=-9.165;QD=6.89;ReadPosRankSum=-4.116;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,38:136:99:0|1:95927222_G_GAT:1301,0,4001:95927222	0	0	10	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13156.0	192	chr2	95927234	.	T	C	13156.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.459;DP=1595;ExcessHet=22.563;FS=10.628;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.9;MQRankSum=-9.948;QD=8.25;ReadPosRankSum=-5.267;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,46:148:99:0|1:95927222_G_GAT:1624,0,4144:95927222	0	0	10	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26684.0	255	chr2	95927252	.	A	G	26684.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.671;DP=2139;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.89;MQRankSum=-12.53;QD=12.48;ReadPosRankSum=-5.1;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,83:201:99:0|1:95927222_G_GAT:3130,0,4705:95927222	0	0	10	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36703.0	299	chr2	95927268	.	C	A	36703.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-4.947;DP=2541;ExcessHet=22.563;FS=3.353;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.06;MQRankSum=-13.88;QD=14.46;ReadPosRankSum=-4.025;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,104:235:99:0|1:95927222_G_GAT:3851,0,5147:95927222	0	0	10	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	37021.0	320	chr2	95927277	.	C	T	37021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.131;DP=2686;ExcessHet=22.563;FS=3.336;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.08;MQRankSum=-14.3;QD=14.04;ReadPosRankSum=-1.349;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,105:245:99:0|1:95927222_G_GAT:3846,0,5400:95927222	0	0	10	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13585.0	206	chr2	95929092	.	T	C	13585.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.99;DP=1657;ExcessHet=22.563;FS=12.134;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=48.26;MQRankSum=-8.366;QD=8.24;ReadPosRankSum=-2.829;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,44:154:99:0|1:95929092_T_C:1445,0,4462:95929092	0	0	10	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16538.0	236	chr2	95929110	.	A	G	16538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=8.4;DP=1892;ExcessHet=22.563;FS=17.499;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.47;MQRankSum=-8.35;QD=8.75;ReadPosRankSum=-1.353;SOR=1.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,53:180:99:0|1:95929092_T_C:1843,0,5173:95929092	0	0	10	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23460.0	271	chr2	95929126	.	C	A	23460.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=4.32;DP=2223;ExcessHet=22.563;FS=26.443;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.92;MQRankSum=-9.139;QD=10.56;ReadPosRankSum=-1.058;SOR=2.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,79:220:99:0|1:95929092_T_C:2893,0,5683:95929092	0	0	10	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24873.0	281	chr2	95929130	.	G	C	24873.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.79;DP=2277;ExcessHet=22.563;FS=24.162;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.53;MQRankSum=-8.928;QD=10.93;ReadPosRankSum=-1.036;SOR=2.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,79:220:99:0|1:95929092_T_C:2893,0,5683:95929092	0	0	10	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26298.0	285	chr2	95929135	.	C	T	26298.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.09;DP=2381;ExcessHet=22.563;FS=26.117;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=43.98;MQRankSum=-8.81;QD=11.3;ReadPosRankSum=-1.019;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,86:224:99:0|1:95929092_T_C:3191,0,5515:95929092	0	0	10	0
chr2	96289939	96289939	T	C	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon21:c.A2800G:p.T934A	Retinitis pigmentosa 33, Autosomal dominant	0	1491	27	4	0	35	0.0116009	.	.	YES	176954	Retinitis_pigmentosa_33|Retinal_dystrophy|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0012477,MedGen:C1835895,OMIM:610359,Orphanet:791|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.165	.	0.0002	0.00439297	0.0030	0.0002	0.0003	0	0	0.0006	0.0022	0.0196	0.0026584	411	154602	rs149616320	0.0014	0.0014	0.0009	0.0019	0.0166	0.0014	0.0013	0.0159	0.0156	8.961e-05	0.0003	0	0	1.872e-05	0.0047	0.0004	0.0015	0.0166	0.0010	0.0010	0.0008	0.0011	0.0166	0.0008	0.0008	0.0137	0.0126	0.0002	0	0.0002	0	0.0002	0	0.0034	0.0007	0.0014	0.0166	0.928	0.02262	T	0.834	0.03674	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.62929	D	0.055481	0.999988	0.81001	D	0.63	0.15941	N	-0.25	0.67011	T	-1.47	0.35991	N	0.184	0.19995	-0.9045	0.47504	T	0.163	0.49963	T	10	0.010088056	0.00226	T	.	.	.	0.165	0.42395	.	.	0.436739265542	0.43292	0.5706196549623248	0.56989	0.94614905809	0.72416	0.64514040947	0.59295	T	0.226826	0.59195	T	-0.382492	0.03005	T	-0.30792	0.43882	T	0.0235686665673508	0.01092	T	0.781022	0.41604	T	0.32588062	0.55131	0.2603615	0.51798	0.32588062	0.55131	0.2603615	0.51797	-7.187	0.55388	T	0.1834308797246747	0.23745	0.067	0.02609	B	.	.	3.030621	0.40590	21.2	0.67612076650963937	0.08406	0.93456	0.58265	D	AEFDBCI	0.428187	0.49182	N	-0.252644075754081	0.30998	1.73384	-0.0173378992172096	0.38931	2.300858	0.999995431897257	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	2.233000	0.42672	4.134000	0.42048	0.665000	0.62972	0.988000	0.36536	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.070	0.71702	291	0.88420	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.001359	0.002924	0.100000	0.000000	0.003049	0.018939	0.05	1198.43	35	chr2	96289939	.	T	C	1198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.6;DP=421;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.222;SOR=0.846	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1210,0,1345	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2008.94	160	chr2	97185336	.	GC	G	2008.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.691;DP=1002;ExcessHet=10.3881;FS=1.877;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.13;MQRankSum=-4.821;QD=2.23;ReadPosRankSum=0.714;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,14:117:99:1|0:97185332_A_G:278,0,4242:97185332	2	0	8	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	2007.98	167	chr2	97185340	.	C	G	2007.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.465;DP=1013;ExcessHet=10.3881;FS=1.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.82;MQRankSum=-4.808;QD=2.2;ReadPosRankSum=0.876;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,14:118:99:1|0:97185332_A_G:275,0,4325:97185332	2	0	8	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1983.94	169	chr2	97185341	.	A	AG	1983.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.507;DP=1021;ExcessHet=10.3881;FS=0.867;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.66;MQRankSum=-4.689;QD=2.15;ReadPosRankSum=1.2;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,14:119:99:1|0:97185332_A_G:272,0,4367:97185332	2	0	8	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1905.94	179	chr2	97185345	.	GTAAT	G	1905.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.397;DP=1063;ExcessHet=10.3881;FS=0.865;InbreedingCoeff=-0.6663;MLEAC=8;MLEAF=0.4;MQ=45.93;MQRankSum=-4.495;QD=1.98;ReadPosRankSum=1.87;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,14:125:99:1|0:97185332_A_G:254,0,4619:97185332	2	0	8	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	400.57	35	chr2	97243989	.	C	T	400.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.099;DP=774;ExcessHet=1.5895;FS=29.789;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=38.65;MQRankSum=-2.483;QD=1.01;ReadPosRankSum=0.724;SOR=1.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,6:76:41:0|1:97243981_C_T:41,0,2921:97243981	6	0	4	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	22311.0	211	chr2	97513220	.	G	A	22311.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.053;DP=1505;ExcessHet=22.563;FS=2.574;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.14;MQRankSum=-3.622;QD=14.84;ReadPosRankSum=0.342;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,46:167:99:0|1:97513219_T_C:1567,0,4942:97513219	0	0	10	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	23638.0	227	chr2	97513227	.	T	C	23638.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.435;DP=1607;ExcessHet=22.563;FS=2.554;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.25;MQRankSum=-3.798;QD=14.94;ReadPosRankSum=0.612;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,51:176:99:0|1:97513219_T_C:1704,0,5086:97513219	0	0	10	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	29141.0	257	chr2	97513244	.	G	T	29141.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.874;DP=1818;ExcessHet=22.563;FS=1.121;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.81;MQRankSum=-4.032;QD=16.06;ReadPosRankSum=0.265;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,63:193:99:0|1:97513244_G_T:2254,0,5236:97513244	0	0	10	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	31529.0	274	chr2	97513253	.	A	G	31529.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.011;DP=1915;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.66;ReadPosRankSum=-0.44;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,69:205:99:0|1:97513244_G_T:2479,0,5490:97513244	0	0	10	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	31538.0	273	chr2	97513254	.	C	T	31538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.403;DP=1919;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.69;ReadPosRankSum=-0.7;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,69:205:99:0|1:97513244_G_T:2479,0,5490:97513244	0	0	10	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	34648.0	295	chr2	97513268	.	C	T	34648.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.562;DP=2031;ExcessHet=22.563;FS=1.756;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.45;MQRankSum=-4.865;QD=17.14;ReadPosRankSum=-0.434;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,76:218:99:0|1:97513268_C_T:2764,0,5734:97513268	0	0	10	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	32483.0	301	chr2	97513270	.	A	C	32483.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.141;DP=2044;ExcessHet=22.563;FS=1.745;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.51;MQRankSum=-4.865;QD=15.9;ReadPosRankSum=-0.382;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,76:218:99:0|1:97513268_C_T:2764,0,5734:97513268	0	0	10	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	34968.0	304	chr2	97513271	.	T	C	34968.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.323;DP=2052;ExcessHet=22.563;FS=1.108;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.54;MQRankSum=-4.877;QD=17.04;ReadPosRankSum=-0.39;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,76:219:99:0|1:97513268_C_T:2761,0,5756:97513268	0	0	10	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	34754.0	295	chr2	97513281	.	C	T	34754.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.105;DP=2075;ExcessHet=22.563;FS=1.744;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.89;MQRankSum=-5.07;QD=16.85;ReadPosRankSum=-0.404;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,76:220:99:0|1:97513268_C_T:2758,0,5711:97513268	0	0	10	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	8228.04	185	chr2	97513354	.	T	C	8228.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.32;DP=1254;ExcessHet=22.563;FS=1.23;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=40.12;MQRankSum=-3.558;QD=6.78;ReadPosRankSum=0.474;SOR=0.601	GT:AD:DP:GQ:PL	0/1:82,38:120:99:767,0,2092	0	0	10	0
chr2	99390610	99390610	G	C	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2653C:p.G885R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.763	0.205255554131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	3.51	0.92865	H	-1.32	0.79761	T	-7.43	0.94843	D	0.888	0.88687	0.556	0.91309	D	0.713	0.90144	D	8	0.97005266	0.96579	D	0.205256	0.86975	D	0.763	0.91962	0.916	0.98422	0.689092108259	0.68642	0.717341916029575	0.71677	2.22149279626	0.95840	0.881300926208	0.94135	D	0.617984	0.87985	D	0.218853	0.75667	D	0.0765911	0.75349	D	0.99372377728329	0.84643	D	0.993201	0.97808	D	0.5181491	0.68153	0.6166811	0.77684	0.5181491	0.68154	0.6166811	0.77685	-12.442	0.86937	D	.	.	0.983	0.91793	P	.;.	.;.	5.305674	0.89070	29.8	0.99935592256078964	0.99579	0.98972	0.89372	D	AEFBI	0.922611	0.89785	D	0.907512754117322	0.92122	11.24571	0.86181587170268	0.93687	12.21075	0.999999999984001	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.994000	0.87951	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0738:0.0:0.9262:0.0	13.083	0.58534	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	219.16	95	chr2	99390610	.	G	C	219.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.223;DP=545;ExcessHet=0.2348;FS=118.475;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.26;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,18:115:76:0|1:99390610_G_C:76,0,3788:99390610	9	0	1	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	544.3	97	chr2	99390613	.	G	A	544.3	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.313;DP=859;ExcessHet=1.5895;FS=106.986;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.22;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,18:116:73:0|1:99390610_G_C:73,0,3830:99390610	6	0	3	1
chr2	101402546	101402546	G	T	exonic	RFX8	.	nonsynonymous SNV	RFX8:NM_001367510:exon10:c.C622A:p.P208T,RFX8:NM_001145664:exon11:c.C1135A:p.P379T,RFX8:NM_001367508:exon12:c.C622A:p.P208T,RFX8:NM_001367509:exon13:c.C622A:p.P208T	.	229	1288	4	1	0	6	0.00232378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	0.00419329	0.0073	0	0	0	0	0.0001	0.0086	0.0193	0.0012484	193	154602	rs371118069	0.0012	0.0011	0.0006	0.0017	0.0194	0.0011	0.0011	0.0186	0.0183	3.165e-05	0.0002	0	5.596e-05	0	0.0005	5.561e-06	0.0011	0.0194	0.0008	0.0008	0.0004	0.0013	0.0228	0.0007	0.0007	0.0193	0.0180	2.405e-05	0	0.0008	0	0	0	0	0	0	0.0228	0.016	0.51853	D	0.095	0.39492	T	0.137	0.27402	B	0.109	0.31370	B	0.158828	0.17728	N	0.518652	1	0.08975	N	.	.	.	0.67	0.52187	T	-1.36	0.33798	N	0.043	0.01577	-0.7560	0.57620	T	0.313	0.68273	T	10	0.0025900602	0.00039	T	.	.	.	0.088	0.25558	.	.	0.0138822411134	0.00435	0.12071475359501806	0.11998	4.55836737235E-4	0.00048	0.283619046211	0.08002	T	.	.	.	-0.626073	0.00101	T	-0.65715	0.08460	T	0.0175715956425276	0.00491	T	0.424758	0.11367	T	.	.	.	.	.	.	.	.	-3.594	0.17770	T	.	.	0.070	0.03443	B	.;.;.	.;.;.	0.964213	0.13410	9.916	0.85097568947857349	0.15684	0.09885	0.15538	N	AEFDBCI	0.066964	0.13140	N	-1.20918879511262	0.04864	0.2204965	-1.19897703723134	0.05927	0.2838391	0.888688871165162	0.25795	0.549168	0.22868	0	0.563428	0.19063	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.23	2.97	0.33479	0.276000	0.18478	2.861000	0.35203	-0.212000	0.08331	0.000000	0.06391	0.397000	0.24692	0.006000	0.07323	0.2372:0.0:0.7628:0.0	9.429	0.37760	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1985.43	39	chr2	101402546	.	G	T	1985.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.289;DP=516;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.184;SOR=0.688	GT:AD:DP:GQ:PL	0/1:79,81:160:99:1997,0,2090	9	0	1	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	130.48	34	chr2	106413119	.	A	G	130.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.55;DP=388;ExcessHet=0.7463;FS=27.782;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=49.23;MQRankSum=-3.883;QD=0.98;ReadPosRankSum=-1.757;SOR=4.531	GT:AD:DP:GQ:PL	0/1:57,7:64:41:41,0,1570	7	0	3	0
chr2	106423468	106423468	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.C4499T:p.T1500I	.	200	1309	13	0	0	13	0.00494109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0119896907415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273465468	4.199e-05	0.0002	2.786e-05	5.624e-05	0.0006	3.289e-05	2.946e-05	0.0004	0.0004	0	0.0004	0	0	0	0	0	0	0.0006	0.0003	0.0014	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0006	0	0	0	0	0.0002	0.0011	0.0005	0.047	0.40319	D	0.02	0.58613	D	0.736	0.42845	P	0.169	0.35248	B	.	.	.	.	0.990442	0.24170	N	2.65	0.77586	M	0.79	0.49068	T	-3.72	0.70793	D	0.384	0.42541	-0.9758	0.35948	T	0.122	0.42357	T	9	0.27889556	0.45461	T	0.01199	0.30154	T	0.205	0.49236	0.255	0.19533	0.154104182512	0.14974	0.02645934888400776	0.02595	.	.	0.887564063072	0.94954	D	0.07577	0.35257	T	-0.202734	0.20411	T	-0.52899	0.19387	T	0.90847259759903	0.56307	D	0.720928	0.33404	T	0.28036207	0.51083	0.24469802	0.49942	0.28036207	0.51083	0.24469802	0.49941	-3.259	0.13214	T	.	.	0.913	0.83681	P	.;.	.;.	4.146309	0.62163	24.4	0.99662394313883751	0.78011	0.97234	0.73484	D	AEFI	0.591115	0.58734	D	0.0544002248301934	0.44345	2.710265	0.00862253652414415	0.40113	2.388896	5.45496462360253E-5	0.04171	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.35	2.35	0.28166	7.458000	0.79818	11.915000	0.99681	0.315000	0.19243	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	10.412	0.43482	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	78.53	77	chr2	106423468	.	G	A	78.53	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.896;DP=401;ExcessHet=0.2348;FS=22.465;InbreedingCoeff=-0.1258;MLEAC=2;MLEAF=0.1;MQ=28.6;MQRankSum=0.604;QD=0.9;ReadPosRankSum=-2.571;SOR=4.187	GT:AD:DP:GQ:PL	0/1:56,7:63:22:22,0,1419	8	0	2	0
chr2	106425126	106425126	T	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.A2841C:p.L947F	.	113	1395	14	0	0	14	0.00499287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0020587420718	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1476016006	0.0005	0.0005	0.0005	0.0006	0.0046	0.0005	0.0005	0.0030	0.0025	0.0020	0.0011	0.0091	0.0005	9.36e-05	0.0046	0.0002	0.0014	0.0005	0.0019	0.0024	0.0019	0.0020	0.0025	0.0018	0.0017	0.0021	0.0020	0.0025	0.0066	0.0022	0.0203	0.0004	0	0.0308	0.0009	0.0033	0.0010	0.574	0.06106	T	0.78	0.04330	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999998	0.08975	N	-1.01	0.01154	N	0.99	0.41750	T	-0.98	0.25986	N	0.03	0.00942	-1.0068	0.27912	T	0.031	0.13330	T	9	0.005949378	0.00133	T	0.002059	0.03775	T	0.030	0.07022	0.216	0.13643	0.0138822411134	0.00435	0.018732201110094104	0.01827	.	.	0.342962920666	0.16881	T	0.001418	0.00874	T	-0.354284	0.04464	T	-0.746681	0.03617	T	0.0213250157278407	0.00834	T	0.0176316	0.00098	T	0.034799747	0.03973	0.05283961	0.08786	0.034799747	0.03973	0.05283961	0.08785	-4.196	0.26694	T	.	.	0.050	0.00681	B	.;.	.;.	-0.178293	0.03203	0.531	0.095329349896583163	0.00099	0.01478	0.04921	N	AEFI	0.048129	0.08182	N	-1.51119489834506	0.01775	0.07778743	-1.43651834146274	0.02894	0.1340043	6.37762098460014E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.35	1.35	0.21078	0.207000	0.17194	0.674000	0.20619	-0.675000	0.04277	0.001000	0.13787	0.023000	0.20922	0.056000	0.15673	0.3626:0.0:0.3923:0.2451	2.125	0.03510	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	431.43	40	chr2	106425126	.	T	G	431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.39;DP=538;ExcessHet=0;FS=7.497;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.27;MQRankSum=-9.228;QD=2.52;ReadPosRankSum=0.552;SOR=0.647	GT:AD:DP:GQ:PL	0/1:138,33:171:99:443,0,3731	9	0	1	0
chr2	107866307	107866307	C	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon18:c.C2587T:p.H863Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00279255082743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.002	0.79402	D	0.02	0.18235	B	0.008	0.13708	B	.	.	.	.	0.95657	0.26293	N	0.46	0.12951	N	1.78	0.25678	T	-3.19	0.64593	D	0.331	0.37197	-1.0489	0.14705	T	0.050	0.21378	T	9	0.117120445	0.22111	T	0.002793	0.05810	T	0.062	0.17934	0.355	0.35571	0.0551355673512	0.04727	0.037720295582585404	0.03718	.	.	0.843544125557	0.88635	D	0.085946	0.37614	T	-0.157578	0.27133	T	-0.464127	0.26151	T	0.266489923104728	0.23597	T	0.868113	0.56980	D	0.17120335	0.37740	0.20056725	0.43995	0.17120335	0.37739	0.20056725	0.43994	-2.9	0.09143	T	.	.	0.137	0.29806	B	.	.	4.067519	0.60414	24.2	0.87849479811471132	0.17528	0.74512	0.36452	D	AEFI	0.319458	0.42286	N	-0.341362746348103	0.27591	1.515003	-0.280672256788466	0.28735	1.604482	2.23634056779839E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	2.3	2.3	0.27735	4.332000	0.59063	7.711000	0.66806	0.253000	0.18341	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.8466:0.0:0.1534	6.283	0.20225	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	136.46	18	chr2	107866307	.	C	T	136.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=129;ExcessHet=0;FS=0;InbreedingCoeff=-0.0557;MLEAC=1;MLEAF=0.05;MQ=24.13;MQRankSum=-0.206;QD=10.5;ReadPosRankSum=0.138;SOR=0.859	GT:AD:DP:GQ:PL	0/1:6,7:13:99:148,0,127	9	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	21749.2	34	chr2	108259015	.	G	*	21749.2	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.702;DP=1615;ExcessHet=0.3701;FS=0.589;InbreedingCoeff=0.1667;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.809;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,141:141:99:.:.:6316,429,0:.	7	1	2	0
chr2	108755041	108755041	C	T	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon16:c.C2339T:p.P780L	.	139	1339	41	3	0	47	0.0172477	.	.	.	365612	Familial_acute_necrotizing_encephalopathy|not_provided|not_specified	MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.106	.	0.0050	0.0103834	0.0083	0.0019	0.0043	0.0289	0.0012	0.0048	0.0100	0.0209	0.0070892	1096	154602	rs61758802	0.0072	0.0072	0.0069	0.0075	0.0346	0.0071	0.0070	0.0331	0.0324	0.0010	0.0048	0.0048	0.0346	0.0007	0.0053	0.0059	0.0066	0.0201	0.0050	0.0050	0.0047	0.0054	0.0211	0.0047	0.0046	0.0178	0.0166	0.0012	0	0.0054	0.0063	0.0203	0.0005	0.0068	0.0055	0.0114	0.0211	0.006	0.61437	D	0.0	0.92824	D	0.08	0.24543	B	0.013	0.16460	B	.	.	.	.	0.720624	0.41334	D	2.085	0.57729	M	2.01	0.21291	T	-6.71	0.92518	D	0.225	0.25253	-1.1210	0.02269	T	0.023	0.09741	T	9	0.0070511103	0.00160	T	.	.	.	0.106	0.30130	.	.	0.301078425253	0.29709	0.5345138066050453	0.53376	1.06551080451	0.76615	0.538223028183	0.44194	T	0.829789	0.95924	D	-0.462804	0.00944	T	-0.41729	0.31385	T	0.0387030613274791	0.03457	T	0.79482	0.43725	T	0.12360301	0.29020	0.20846748	0.45150	0.12360301	0.29020	0.20846748	0.45149	-4.27	0.27754	T	.	.	0.099	0.16756	B	.	.	3.272021	0.44790	22.0	0.99814182742091295	0.89797	0.97359	0.74250	D	AEFBI	0.339065	0.43633	N	-0.0878478647518014	0.37925	2.213562	0.0741356962974324	0.43252	2.630885	0.982125366228784	0.30356	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.77	4.9	0.63643	3.967000	0.56509	4.915000	0.45989	0.584000	0.30380	1.000000	0.71638	0.989000	0.31174	0.799000	0.37691	0.0:0.9302:0.0:0.0698	14.596	0.68006	858	0.34001	.	.	.	.	.	.	Likely benign	0	0	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	0.008631	0.000000	0.009615	0.004505	0.000000	0.008929	0.008000	0.017241	0.05	2724.43	34	chr2	108755041	.	C	T	2724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.172;DP=550;ExcessHet=0;FS=0.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.42;MQRankSum=-6.121;QD=11.35;ReadPosRankSum=-0.037;SOR=0.635	GT:AD:DP:GQ:PL	0/1:123,117:240:99:2736,0,2875	9	0	1	0
chr2	131264142	131264142	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.G2687A:p.R896H	.	1	1512	8	0	1	9	0.00263852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.0643642992396	.	.	1.698e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs780394961	2.052e-06	1.779e-05	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	2.519e-05	0	0.0002	8.993e-07	0	0	6.641e-06	0.0006	1.296e-05	0	1.488e-05	0	0	.	.	0	0	0	0	0	0	0	1.488e-05	0	0	0.107	0.29554	T	0.017	0.60337	D	0.84	0.46486	P	0.089	0.29769	B	.	.	.	.	1	0.81001	D	3.605	0.93784	H	-3.54	0.94799	D	-3.63	0.69714	D	0.272	0.30800	0.255	0.86826	D	0.756	0.91689	D	8	0.5234951	0.62777	D	0.064364	0.69254	D	0.415	0.72555	0.717	0.85230	0.410603549233	0.40672	0.1142392138303711	0.11351	.	.	0.49760299921	0.38493	T	0.627126	0.88394	D	0.12207	0.66580	D	-0.0624317	0.66162	T	0.647554271321181	0.38358	D	0.779322	0.41328	T	0.072089106	0.16008	0.07193647	0.15463	0.072089106	0.16008	0.07193647	0.15462	-10.788	0.78482	D	.	.	0.185	0.40114	B	.	.	2.588395	0.33574	19.38	0.99638666526857933	0.76510	0.76673	0.37623	D	AEFI	0.321779	0.42448	N	-0.229497971043787	0.31929	1.795331	-0.465909109590448	0.23099	1.257969	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	6.898000	0.75496	.	.	0.199000	0.17910	1.000000	0.71638	0.000000	0.08366	0.031000	0.13245	8.0E-4:0.0:0.9992:0.0	5.905	0.18235	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001059	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	93.43	117	chr2	131264142	.	G	A	93.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.02;DP=1706;ExcessHet=0;FS=59.925;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.53;MQRankSum=-8.094;QD=0.39;ReadPosRankSum=-4.63;SOR=5.135	GT:AD:DP:GQ:PL	0/1:214,26:240:99:105,0,5761	9	0	1	0
chr2	135638906	135638906	G	A	exonic	R3HDM1	.	nonsynonymous SNV	R3HDM1:NM_001282800:exon11:c.G835A:p.D279N,R3HDM1:NM_001282799:exon12:c.G871A:p.D291N,R3HDM1:NM_001282798:exon14:c.G1003A:p.D335N,R3HDM1:NM_001354199:exon14:c.G1003A:p.D335N,R3HDM1:NM_001354200:exon14:c.G1003A:p.D335N,R3HDM1:NM_001378107:exon14:c.G1003A:p.D335N,R3HDM1:NM_015361:exon14:c.G1003A:p.D335N	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0232625170754	.	0.000798722	0.0001	0	0	0	0	3.022e-05	0	0.0007	0.00011	17	154602	rs548719362	6.158e-05	6.156e-05	4.493e-05	7.839e-05	0.0010	5.095e-05	4.716e-05	0.0005	0.0005	0	0	0	2.519e-05	0	0.0010	1.619e-05	9.936e-05	0.0007	6.58e-05	6.566e-05	3.864e-05	9.417e-05	0.0017	3.521e-05	2.62e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.472e-05	0.0005	0.0017	0.014	0.72154	D	0.158	0.36101	T	0.546	0.38028	P	0.156	0.34472	B	0.000282	0.46274	D	0.227068	0.545884	0.49283	D	2.08	0.57402	M	1.39	0.35405	T	-3.08	0.65742	D	0.133	0.17553	-0.4906	0.68987	T	0.275	0.64629	T	10	0.04398939	0.03307	T	0.023263	0.46211	T	0.166	0.42578	0.273	0.22369	0.67667615416	0.67393	0.22419525035368837	0.22334	0.53408203819	0.50830	0.551749944687	0.46105	T	0.237879	0.60566	T	-0.445772	0.01196	T	-0.528666	0.19419	T	0.313217341899872	0.25546	T	0.955704	0.83186	D	0.4270486	0.62559	0.39488363	0.64170	0.4270486	0.62559	0.39488363	0.64170	-9.946	0.79691	D	.	.	0.188	0.41526	B	.;.;.;.;.	.;.;.;.;.	5.105291	0.85319	28.6	0.99889692413916609	0.96436	0.99835	0.99758	D	AEFBI	0.866439	0.78586	D	0.505386202669504	0.67409	5.077629	0.595651674479069	0.74628	6.169427	0.999999859378431	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.271000	0.77894	11.876000	0.98705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.279	0.94033	362	0.84826	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1386.43	39	chr2	135638906	.	G	A	1386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.215;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.173;SOR=0.648	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1398,0,1016	9	0	1	0
chr2	137656861	137656861	A	C	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon23:c.A4171C:p.S1391R	.	434	1087	1	0	0	1	0.00045977	.	.	.	3913669	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.179	0.0155072759586	.	.	0.0001	0	0	0	0	3e-05	0	0.0008	9.7e-05	15	154602	rs766970685	6.431e-05	6.43e-05	4.084e-05	8.802e-05	0.0008	5.362e-05	4.977e-05	0.0006	0.0006	0	6.708e-05	0	0	0	0.0002	1.619e-05	8.282e-05	0.0008	1.971e-05	1.97e-05	0	4.035e-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	0.093	0.31532	T	0.162	0.32568	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999946	0.81001	D	.	.	.	2.46	0.14907	T	-1.9	0.44284	N	0.785	0.84505	-1.0919	0.05223	T	0.072	0.29387	T	10	0.44337058	0.58242	T	0.015507	0.36282	T	0.179	0.44899	.	.	0.503063991398	0.49945	0.6937141672519127	0.69312	0.155593762217	0.17559	0.484709113836	0.36705	T	0.014823	0.12548	T	-0.119652	0.33182	T	-0.0134702	0.69458	D	0.265021175146103	0.23533	T	0.873013	0.58243	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.644	0.70694	P	.;.;.	.;.;.	3.730126	0.53349	23.4	0.99327485184767239	0.59622	0.97091	0.72637	D	AEFI	0.841839	0.75900	D	0.470314372094076	0.65363	4.81324	0.550005604975915	0.71399	5.648737	0.00739471562831118	0.11456	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	5.982000	0.70215	9.359000	0.80360	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9315:0.0:0.0685:0.0	11.051	0.47107	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1551.43	35	chr2	137656861	.	A	C	1551.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.975;DP=424;ExcessHet=0;FS=0.718;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.09;SOR=0.614	GT:AD:DP:GQ:PL	0/1:51,61:112:99:1563,0,1354	9	0	1	0
chr2	147952460	147952460	A	C	exonic	ORC4	.	nonsynonymous SNV	ORC4:NM_001190881:exon5:c.T249G:p.H83Q,ORC4:NM_001190882:exon7:c.T279G:p.H93Q,ORC4:NM_002552:exon8:c.T501G:p.H167Q,ORC4:NM_181741:exon8:c.T501G:p.H167Q,ORC4:NM_181742:exon8:c.T501G:p.H167Q,ORC4:NM_001190879:exon9:c.T501G:p.H167Q,ORC4:NM_001374272:exon9:c.T249G:p.H83Q,ORC4:NM_001374270:exon10:c.T501G:p.H167Q	Meier-Gorlin syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.158635835134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.841e-07	1.364e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.032	0.53426	D	0.037	0.20876	B	0.147	0.34014	B	0.000001	0.84330	N	0.096295	0.999268	0.81001	D	2.505	0.72935	M	-3.04	0.92357	D	-6.87	0.93175	D	0.349	0.39861	-0.2499	0.76362	T	0.610	0.86187	D	10	0.34211516	0.51248	T	0.158636	0.83899	D	0.152	0.39956	0.404	0.43573	0.924435120398	0.92367	0.5339902043326814	0.53324	0.326412114761	0.34790	0.579629421234	0.50034	T	0.166067	0.51215	T	0.0448615	0.57680	T	-0.173336	0.57138	T	0.884059488773346	0.53427	D	0.794321	0.44511	T	0.74107856	0.80354	0.5248352	0.72547	0.74107856	0.80356	0.5248352	0.72547	-8.183	0.63324	D	0.601928977617784	0.66900	0.353	0.56767	A	.;.;.;.;.	.;.;.;.;.	3.298200	0.45264	22.1	0.95968306843252982	0.28320	0.84634	0.43718	D	AEBCI	0.358904	0.44942	N	-0.353789333699048	0.27132	1.486234	-0.211953562680255	0.31105	1.757323	2.84094382655772E-4	0.06355	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	3.46	0.38718	2.514000	0.45164	2.869000	0.35254	-0.122000	0.13826	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.6236:0.1515:0.2249:0.0	5.176	0.14460	913	0.21160	.;AAA+ ATPase domain;.;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	46.2	34	chr2	147952460	.	A	C	46.2	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.138;DP=370;ExcessHet=0.2348;FS=114.678;InbreedingCoeff=-0.1141;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=-0.125;SOR=6.932	GT:AD:DP:GQ:PL	0/1:68,19:87:24:24,0,1063	8	0	2	0
chr2	148470197	148470197	A	G	exonic	MBD5	.	nonsynonymous SNV	MBD5:NM_001378120:exon8:c.A2254G:p.I752V,MBD5:NM_018328:exon9:c.A2254G:p.I752V	Mental retardation, autosomal dominant 1, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	365624	MBD5-related_disorder|not_provided|Inborn_genetic_diseases|Intellectual_disability,_autosomal_dominant_1	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.080	0.00236703355941	0.0005	.	0.0004	0	0.0004	0	0.0002	0.0005	0	0.0002	0.0003363	52	154602	rs147455836	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0022	0.0018	2.988e-05	0.0003	0.0004	0.0003	0.0001	0.0033	0.0003	0.0006	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	4.809e-05	0	0.0008	0.0006	0	0.0003	0	0.0006	0.0005	0.0002	0.039	0.47320	D	0.582	0.16280	T	0.0	0.12996	B	0.0	0.06944	B	0.000317	0.45977	D	0.097072	0.995565	0.23258	N	0.345	0.11182	N	1.02	0.41058	T	-0.38	0.13418	N	0.193	0.24634	-1.0838	0.06628	T	0.044	0.19029	T	10	0.046809852	0.03919	T	0.002367	0.04618	T	0.080	0.23350	.	.	0.128874641272	0.12493	0.2543113046449451	0.25345	0.150950531144	0.17036	0.51235294342	0.40550	T	0.039994	0.25379	T	-0.45526	0.01051	T	-0.518275	0.20469	T	0.0265196337275132	0.01477	T	0.70443	0.35686	T	0.027835634	0.02032	0.036509965	0.03113	0.027835634	0.02031	0.036509965	0.03113	-3.135	0.11703	T	0.12894777943400632	0.13414	0.108	0.20391	B	.;.;.;.;.	.;.;.;.;.	2.064462	0.26254	17.05	0.95448442889327412	0.26964	0.82901	0.42068	D	AEFDBI	0.203018	0.32956	N	-0.423276997439156	0.24655	1.332824	-0.244425973962412	0.29964	1.683076	0.798658967154758	0.24146	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.96	2.41	0.28644	1.403000	0.34220	1.948000	0.29869	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.5152:0.1363:0.0889:0.2596	1.494	0.02314	600	0.68026	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	1529.43	35	chr2	148470197	.	A	G	1529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.621;DP=427;ExcessHet=0;FS=1.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.27;SOR=0.889	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1541,0,1527	9	0	1	0
chr2	151592093	151592093	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon95:c.G14767A:p.V4923M,NEB:NM_001164508:exon95:c.G14767A:p.V4923M,NEB:NM_001271208:exon95:c.G14767A:p.V4923M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	72	1448	2	0	0	2	0.000690131	.	.	.	2408118	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00931681802712	0.0004	0.000599042	0.0002	0.0019	0	0	0	0	0	0	4.53e-05	7	154602	rs371004065	5.654e-05	8.003e-05	5.791e-05	5.515e-05	0.0009	4.614e-05	4.271e-05	0.0006	0.0005	0.0009	2.802e-05	0	5.597e-05	0	0.0002	3.245e-05	0.0002	5.054e-05	0.0005	0.0006	0.0004	0.0005	0.0013	0.0004	0.0004	0.0010	0.0009	0.0013	0	0.0010	0	0	0	0	4.409e-05	0	0	0.029	0.45756	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	3.29	0.06445	T	-0.19	0.09965	N	0.172	0.18512	-0.9466	0.41549	T	0.018	0.07234	T	7	0.021748364	0.00527	T	0.009317	0.24459	T	0.019	0.03383	.	.	0.229264304666	0.22521	0.005961659842614152	0.00565	0.324208047398	0.34584	.	.	.	0.010037	0.09096	T	-0.544975	0.00313	T	-0.677864	0.07115	T	0.0610592724011454	0.07335	T	0.340666	0.07588	T	.	.	.	.	.	.	.	.	-10.626	0.77568	D	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	1.077318	0.14602	11.16	0.70906129435366072	0.09450	0.03574	0.08788	N	AEFBCI	0.036392	0.04843	N	-0.63088768965369	0.18021	0.9322741	-0.777459131280878	0.15048	0.7894695	0.00201316038908668	0.09087	0.581397	0.33459	0	0.61073	0.52368	0	0.685742	0.62368	0	0.622129	0.49086	0	.	.	2.65	0.753	0.17552	-0.695000	0.05211	.	.	-0.323000	0.05837	0.000000	0.06391	0.006000	0.19429	0.521000	0.29498	0.0:0.7453:0.0:0.2547	7.006	0.24014	903	0.23940	.;.;.;.;.	.	.	.	.	.	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	0.005660	0.008475	0.000000	0.016949	0.000000	0.000000	0.000000	0.000000	0.05	952.43	34	chr2	151592093	.	C	T	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.6;DP=577;ExcessHet=0;FS=5.325;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.27;MQRankSum=-7.229;QD=3.57;ReadPosRankSum=-1.161;SOR=1.086	GT:AD:DP:GQ:PL	0/1:208,59:267:99:964,0,4810	9	0	1	0
chr2	151602646	151602646	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon87:c.G13309A:p.V4437M,NEB:NM_001164508:exon87:c.G13309A:p.V4437M,NEB:NM_001271208:exon87:c.G13309A:p.V4437M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0106536536769	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335467972	0	2.156e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.633e-05	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	0.069	0.35537	T	0.063	0.45110	T	.	.	.	.	.	.	.	.	.	.	1	0.21065	N	.	.	.	3.19	0.07353	T	-0.49	0.15578	N	0.219	0.24510	-0.9523	0.40573	T	0.019	0.07846	T	7	0.11761981	0.22217	T	0.010654	0.27430	T	0.010	0.01040	0.325	0.30711	0.167679373172	0.16340	0.0038656120000573977	0.00362	0.324208047398	0.34584	.	.	.	0.015075	0.12713	T	-0.294591	0.09179	T	-0.660936	0.08203	T	0.160811328283078	0.17931	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	-8.021	0.61213	D	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	1.677249	0.21378	15.17	0.56847788574136682	0.05641	0.01192	0.04260	N	AEFI	0.024494	0.01526	N	-0.657017165168692	0.17257	0.8864123	-0.768222665527684	0.15275	0.8025638	0.00176877846835635	0.08861	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.51	-0.168	0.12689	-0.481000	0.06631	.	.	0.297000	0.18867	0.000000	0.06391	0.014000	0.20376	0.569000	0.30626	0.0:0.6085:0.0:0.3914	7.705	0.27812	911	0.21964	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	89.62	.	chr2	151602646	.	C	T	89.62	.	AC=2;AF=0.333;AN=6;DP=21;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=35.17;QD=22.4;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	2	1	0	7
chr2	152542775	152542775	A	G	exonic	FMNL2	.	nonsynonymous SNV	FMNL2:NM_052905:exon3:c.A238G:p.I80V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0226591904871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.166	0.30828	T	0.026	0.19406	B	0.038	0.23361	B	0.000048	0.53742	D	0.161001	0.999762	0.48888	D	2.125	0.59049	M	-2.2	0.86888	D	-0.76	0.21215	N	0.439	0.47765	-0.2384	0.76668	T	0.512	0.81690	D	10	0.2859226	0.46174	T	0.022659	0.45569	T	0.289	0.60808	0.581	0.70733	0.685350872001	0.68266	0.25489116159309166	0.25403	0.324760781884	0.34632	0.778911232948	0.78764	T	.	.	.	0.052101	0.58613	T	-0.162937	0.58086	T	0.73555850982666	0.42500	D	0.956904	0.83579	D	.	.	.	.	.	.	.	.	-9.809	0.72760	D	.	.	0.164	0.36214	B	.	.	3.677646	0.52329	23.2	0.99494589107806364	0.67630	0.78809	0.38939	D	AEFGBCIJ	0.653196	0.62632	D	0.0232668351802864	0.42914	2.594784	0.227720640856015	0.51392	3.322047	0.999999902535199	0.74766	0.730579	0.87903	0	0.588015	0.36545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	6.02	6.02	0.97559	4.597000	0.60770	9.210000	0.79232	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.527	0.75655	278	0.89047	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2464.43	34	chr2	152542775	.	A	G	2464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.149;DP=511;ExcessHet=0;FS=4.162;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.044;SOR=0.782	GT:AD:DP:GQ:PL	0/1:85,107:192:99:2476,0,2068	9	0	1	0
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.15	2070.45	39	chr2	157799450	.	G	C	2070.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.947;DP=484;ExcessHet=0.7463;FS=1.701;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.03;SOR=0.568	GT:AD:DP:GQ:PL	0/1:48,39:87:99:820,0,1233	7	0	3	0
chr2	158634114	158634114	C	T	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon9:c.C1387T:p.L463F,PKP4:NM_001304969:exon9:c.C1384T:p.L462F,PKP4:NM_001304970:exon9:c.C358T:p.L120F,PKP4:NM_001304971:exon9:c.C1387T:p.L463F,PKP4:NM_001377218:exon9:c.C1387T:p.L463F,PKP4:NM_001377219:exon9:c.C1384T:p.L462F,PKP4:NM_001377222:exon9:c.C1381T:p.L461F,PKP4:NM_001377223:exon9:c.C1381T:p.L461F,PKP4:NM_001377224:exon9:c.C1378T:p.L460F,PKP4:NM_001377225:exon9:c.C1387T:p.L463F,PKP4:NM_001377226:exon9:c.C1384T:p.L462F,PKP4:NM_003628:exon9:c.C1387T:p.L463F,PKP4:NM_001377220:exon10:c.C1384T:p.L462F,PKP4:NM_001377221:exon10:c.C1384T:p.L462F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0422653132746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.705	0.06071	T	0.982	0.67487	D	0.79	0.61233	P	0.000831	0.41547	D	0.165501	0.999999	0.58761	D	1.525	0.38595	L	-0.87	0.74583	T	-1.26	0.31778	N	0.585	0.64478	-0.2566	0.76180	T	0.512	0.81690	D	10	0.5543177	0.64431	D	0.042265	0.60372	D	0.254	0.56428	0.225	0.14960	0.783973327195	0.78197	0.4885891693623237	0.48778	0.610841183028	0.55752	0.687761306763	0.65384	T	0.084974	0.47559	T	0.0906535	0.63263	D	-0.107559	0.62806	T	0.799578718832487	0.46324	D	0.927707	0.73352	D	0.06449611	0.13690	0.120411575	0.29058	0.06449611	0.13690	0.120411575	0.29057	-9.98	0.74532	D	.	.	0.166	0.36574	B	.;.;.	.;.;.	4.697743	0.75339	26.3	0.99897830129088649	0.97048	0.98365	0.82038	D	AEFBI	0.722827	0.67264	D	0.615070181896314	0.74125	6.080184	0.655289984482591	0.79005	6.991899	0.999999823959065	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	2.709000	0.46828	.	.	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.439	0.99109	831	0.39019	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1128.43	34	chr2	158634114	.	C	T	1128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=407;ExcessHet=0;FS=2.716;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.651;SOR=1.04	GT:AD:DP:GQ:PL	0/1:55,46:101:99:1140,0,1316	9	0	1	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N,BAZ2B:NM_001329857:exon28:c.G4346A:p.S1449N,BAZ2B:NM_001329858:exon28:c.G4433A:p.S1478N,BAZ2B:NM_013450:exon28:c.G4508A:p.S1503N	.	431	977	111	3	0	117	0.0564944	.	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016616	0.000000	0.016304	0.014620	0.000000	0.008621	0.009146	0.049242	0.05	3168.43	34	chr2	159350063	.	C	T	3168.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.209;DP=568;ExcessHet=0;FS=0.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.138;SOR=0.642	GT:AD:DP:GQ:PL	0/1:135,120:255:99:3180,0,3696	9	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2238.14	35	chr2	162268086	.	C	T	2238.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.375;DP=454;ExcessHet=0.2348;FS=0.615;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.77;SOR=0.619	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1135,0,1344	8	0	2	0
chr2	162276886	162276886	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon11:c.C2105T:p.T702I	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	436	1075	9	2	0	13	0.00601017	.	.	.	516575	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00311255286654	0.0022	0.00119808	0.0022	0.0006	0.0010	0	0.0006	0.0035	0.0022	0.0006	0.0022509	348	154602	rs72650663	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0039	0.0038	0.0006	0.0013	0.0040	0	0.0010	0.0040	0.0040	0.0038	0.0005	0.0025	0.0025	0.0028	0.0022	0.0043	0.0023	0.0022	0.0039	0.0037	0.0006	0	0.0016	0.0040	0	0.0007	0.0034	0.0043	0.0033	0.0010	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.001	0.04355	B	0.398190	0.13161	N	0.752997	1	0.08975	N	1.04	0.26193	L	3.57	0.04645	T	-1.61	0.38734	N	0.155	0.16028	-0.9783	0.35390	T	0.006	0.01870	T	10	0.0051235557	0.00111	T	0.003113	0.06756	T	0.030	0.07022	.	.	0.154104182512	0.14974	0.14239699947887652	0.14162	0.0253377058962	0.02582	0.310032010078	0.11912	T	0.110274	0.42483	T	-0.716175	0.00029	T	-0.80152	0.01865	T	0.0012033429791264	0.00012	T	0.641436	0.26514	T	0.07622874	0.17225	0.07474176	0.16384	0.07366213	0.16476	0.09073053	0.21293	-4.842	0.35077	T	0.2081342723913996	0.27833	0.084	0.41977	B	.;.;.	.;.;.	0.056580	0.04687	1.330	0.89092026717404338	0.18504	0.07279	0.13301	N	AEFBI	0.093619	0.18940	N	-1.26431277885618	0.04113	0.1850451	-1.29815290767241	0.04456	0.2102195	0.753146186280519	0.23392	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.36	-5.56	0.02328	-0.177000	0.09789	0.032000	0.13746	-0.106000	0.15538	0.000000	0.06391	0.161000	0.23262	0.986000	0.61781	0.5061:0.0865:0.1488:0.2586	3.213	0.06292	446	0.79659	Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.006793	0.005848	0.050000	0.008621	0.003049	0.000000	0.1	2010.14	33	chr2	162276886	.	G	A	2010.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.681;DP=461;ExcessHet=0.2348;FS=0.57;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.929;SOR=0.608	GT:AD:DP:GQ:PL	0/1:45,39:84:99:970,0,1182	8	0	2	0
chr2	178527550	178527550	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon190:c.T80381C:p.M26794T,TTN:NM_133432:exon191:c.T80756C:p.M26919T,TTN:NM_133437:exon191:c.T80957C:p.M26986T,TTN:NM_133378:exon311:c.T99872C:p.M33291T,TTN:NM_001256850:exon312:c.T102653C:p.M34218T,TTN:NM_001267550:exon362:c.T107576C:p.M35859T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1491	30	0	0	30	0.00996016	.	.	YES	56884	Cardiomyopathy|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|TTN-related_disorder|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|.|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.398	.	0.0011	0.00219649	0.0022	0.0002	0.0003	0	0.0002	0.0016	0.0044	0.0093	0.0019987	309	154602	rs72629793	0.0013	0.0013	0.0010	0.0016	0.0099	0.0013	0.0012	0.0094	0.0092	0.0002	0.0002	0.0090	0.0002	5.618e-05	0.0064	0.0006	0.0022	0.0099	0.0010	0.0010	0.0008	0.0011	0.0112	0.0009	0.0008	0.0088	0.0080	7.213e-05	0	0	0.0089	0.0004	0	0	0.0008	0.0014	0.0112	0.009	0.58626	D	.	.	.	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.820675	0.35804	D	0.55	0.14455	N	-0.1	0.64264	T	-2.73	0.58085	D	0.729	0.76946	-0.8893	0.48995	T	0.141	0.46072	T	9	0.00726828	0.00165	T	.	.	.	0.398	0.71242	.	.	0.615614480955	0.61251	.	.	0.0968877573739	0.10942	0.604412436485	0.53527	T	.	.	.	-0.144099	0.29240	T	0.0266331	0.72058	D	0.0309438198874612	0.02137	T	0.664234	0.27311	T	.	.	.	.	.	.	.	.	-4.129	0.25716	T	.	.	0.436	0.61490	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.207637	0.28159	17.71	0.83464716704103281	0.14740	0.94805	0.62390	D	AEFDBCI	0.834171	0.75226	D	-0.273761059275001	0.30164	1.679445	-0.0634768986456481	0.36913	2.154379	0.999999989243797	0.74766	0.554377	0.28877	0	0.516746	0.08562	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.77	4.62	0.56946	5.583000	0.67179	.	.	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9261:0.0:0.0739:0.0	10.371	0.43238	348	0.85549	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.000000	0.000000	0.000000	0.015244	0.007576	0.05	1696.43	36	chr2	178527550	.	A	G	1696.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.822;DP=487;ExcessHet=0;FS=3.711;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.167;SOR=0.99	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1708,0,2467	9	0	1	0
chr2	178569180	178569180	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.T49757C:p.V16586A,TTN:NM_133432:exon155:c.T50132C:p.V16711A,TTN:NM_133437:exon155:c.T50333C:p.V16778A,TTN:NM_133378:exon275:c.T69248C:p.V23083A,TTN:NM_001256850:exon276:c.T72029C:p.V24010A,TTN:NM_001267550:exon326:c.T76952C:p.V25651A	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	YES	198999	not_provided|Cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.318	0.0286275876135	8.3e-05	.	4.163e-05	0	0	0	0	7.516e-05	0	0	3.23e-05	5	154602	rs370768049	6.85e-06	6.84e-06	8.176e-06	5.509e-06	0.0005	3.46e-06	2.53e-06	0.0001	7.57e-05	0	0	0	0	0	0.0005	6.3e-06	0	0	1.315e-05	1.313e-05	0	2.692e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.063	0.91255	T	.	.	.	0.996	0.68779	D	0.914	0.64984	D	.	.	.	.	0.999999	0.58761	D	2.305	0.65957	M	0.43	0.56772	T	-2.8	0.59226	D	0.466	0.65844	-0.3849	0.72500	T	0.321	0.69004	T	9	0.3269905	0.49988	T	0.028628	0.51275	D	0.318	0.64008	.	.	0.595842844361	0.59262	.	.	0.425013203818	0.42916	0.650216460228	0.60017	T	.	.	.	-0.0274259	0.47791	T	-0.213526	0.53358	T	0.211096656379681	0.21011	T	0.793221	0.45757	T	.	.	.	.	.	.	.	.	-6.905	0.53336	T	.	.	0.250	0.48458	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.993896	0.39977	21.1	0.88603465294668438	0.18107	0.99116	0.91460	D	AEFBI	0.928654	0.91320	D	0.827333270315347	0.87782	9.339007	0.835577308591545	0.92146	11.26139	0.999999944914961	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.54472	0.12158	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	9.268000	0.94851	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.371	0.83191	434	0.80536	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2202.43	115	chr2	178569180	.	A	G	2202.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=975;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.861;SOR=0.675	GT:AD:DP:GQ:PL	0/1:96,85:181:99:2214,0,2519	9	0	1	0
chr2	178587968	178587968	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon133:c.G36244A:p.A12082T,TTN:NM_133432:exon134:c.G36619A:p.A12207T,TTN:NM_133437:exon134:c.G36820A:p.A12274T,TTN:NM_133378:exon254:c.G55735A:p.A18579T,TTN:NM_001256850:exon255:c.G58516A:p.A19506T,TTN:NM_001267550:exon305:c.G63439A:p.A21147T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1509	12	0	0	12	0.0039604	.	.	.	172850	Tip-toe_gait|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|not_provided|TTN-related_disorder|Cardiomyopathy|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.662	0.060071761413	8.3e-05	0.000798722	0.0008	0	0	0	0	0.0004	0.0025	0.0035	0.0005951	92	154602	rs72646853	0.0004	0.0004	0.0003	0.0006	0.0040	0.0004	0.0004	0.0037	0.0035	2.994e-05	8.997e-05	0.0003	2.54e-05	3.757e-05	0.0016	0.0002	0.0006	0.0040	0.0003	0.0003	0.0003	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	2.407e-05	0	0	0.0003	0	0	0	0.0004	0	0.0041	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	3.775	0.95212	H	-0.44	0.69777	T	-3.33	0.66206	D	0.659	0.75374	0.554	0.91288	D	0.656	0.88034	D	9	0.013289392	0.00282	T	0.060072	0.67879	D	0.662	0.87381	.	.	0.563544018958	0.56017	.	.	0.457598942377	0.45392	0.798892438412	0.81794	T	.	.	.	-0.0650879	0.42110	T	0.130993	0.78957	D	0.135726307329004	0.15901	T	0.955104	0.82903	D	.	.	.	.	.	.	.	.	-9.233	0.69286	D	.	.	0.826	0.78546	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.603461	0.50905	23.0	0.95132808160082727	0.26245	0.98992	0.89656	D	AEFBI	0.950012	0.96323	D	1.06637797746111	0.97460	16.16587	0.990588351698279	0.98437	18.277	0.999999999982724	0.74766	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.020	0.97498	404	0.82510	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	1717.43	39	chr2	178587968	.	C	T	1717.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.68;DP=480;ExcessHet=0;FS=1.229;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.434;SOR=0.806	GT:AD:DP:GQ:PL	0/1:92,71:163:99:1729,0,2361	9	0	1	0
chr2	178658281	178658281	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon185:c.G37702A:p.A12568T	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	.	.	.	.	.	.	.	.	.	.	392116	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy_9	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.0176962884608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1060500468	3.355e-05	4.607e-05	3.294e-05	3.412e-05	0.0001	2.297e-05	2.017e-05	2.602e-05	2.173e-05	0.0001	4.718e-05	0	0	0	0	3.909e-05	0	1.838e-05	0.0001	0.0002	6.962e-05	0.0002	0.0002	5.782e-05	4.321e-05	7.814e-05	5.538e-05	0	0.0026	0.0002	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.11	0.64445	T	.	.	.	0.063	0.03502	-1.0279	0.21136	T	0.062	0.25923	T	7	0.057545424	0.06626	T	0.017696	0.39501	T	.	.	.	.	0.107399877778	0.10242	.	.	0.0811842030757	0.09130	.	.	.	.	.	.	-0.466197	0.00898	T	-0.681735	0.06878	T	0.0415743938472112	0.03976	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.442764	0.02058	0.188	0.75871451274757895	0.11244	0.01726	0.05462	N	AEFI	0.055642	0.10221	N	-1.12564490445725	0.06190	0.2842832	-1.15957288992871	0.06597	0.3181081	0.0028617005979655	0.09760	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	1.11	0.19640	-5.587000	0.00133	.	.	-0.315000	0.05944	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.0:0.282:0.4301:0.2879	8.364	0.31535	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	289.31	19	chr2	178658281	.	C	T	289.31	.	AC=1;AF=0.056;AN=18;BaseQRankSum=2.32;DP=104;ExcessHet=0;FS=0;InbreedingCoeff=-0.0904;MLEAC=1;MLEAF=0.056;MQ=26.5;MQRankSum=-1.098;QD=22.25;ReadPosRankSum=0.594;SOR=1.473	GT:AD:DP:GQ:PL	0/1:2,11:13:22:300,0,22	8	0	1	1
chr2	178733688	178733688	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon50:c.T11969C:p.F3990S,TTN:NM_001256850:exon51:c.T14750C:p.F4917S,TTN:NM_001267550:exon53:c.T15701C:p.F5234S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.00686138669083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	0.09836	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	-0.19	0.65931	T	-2.19	0.49352	N	0.506	0.53796	-1.0414	0.16890	T	0.049	0.20947	T	9	0.16300628	0.30535	T	0.006861	0.18149	T	0.221	0.51721	0.517	0.61763	0.376393476264	0.37247	.	.	0.150935704758	0.17036	0.310632407665	0.12003	T	.	.	.	-0.0791786	0.39847	T	-0.351511	0.39032	T	0.101598507035054	0.12532	T	0.539746	0.21965	T	.	.	.	.	.	.	.	.	-1.969	0.03066	T	.	.	0.058	0.00625	B	.;.;.;.	.;.;.;.	2.046054	0.26006	16.97	0.95500326780026734	0.27089	0.79646	0.39507	D	AEFBI	0.263772	0.38125	N	-0.522736326943391	0.21345	1.13216	-0.250817327390364	0.29742	1.668885	0.956090880587551	0.28227	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.79	3.43	0.38372	1.868000	0.39146	.	.	0.756000	0.94297	0.974000	0.34632	0.019000	0.20708	0.993000	0.69303	0.4701:0.1998:0.1391:0.191	0.711	0.00865	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3761.43	36	chr2	178733688	.	A	G	3761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.989;DP=655;ExcessHet=0;FS=3.169;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.246;SOR=0.521	GT:AD:DP:GQ:PL	0/1:147,147:294:99:3773,0,3547	9	0	1	0
chr2	178773193	178773193	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon32:c.G7633C:p.V2545L,TTN:NM_133432:exon32:c.G7633C:p.V2545L,TTN:NM_133437:exon32:c.G7633C:p.V2545L,TTN:NM_001256850:exon33:c.G7771C:p.V2591L,TTN:NM_001267550:exon33:c.G7771C:p.V2591L,TTN:NM_133378:exon33:c.G7771C:p.V2591L,TTN:NM_133379:exon33:c.G7771C:p.V2591L	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	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0196124366724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.49613	T	0.087	0.40747	T	0.075	0.48103	B	0.133	0.42432	B	.	.	.	.	0.869337	0.35533	D	.	.	.	-0.2	0.66113	T	-1.96	0.51478	N	0.275	0.65758	-0.9527	0.40503	T	0.147	0.47147	T	9	0.21065396	0.37467	T	0.019612	0.42016	T	0.223	0.52023	0.725	0.85937	0.459906663326	0.45615	.	.	0.114562253734	0.12917	0.652924478054	0.60401	T	.	.	.	-0.0240363	0.48276	T	-0.272303	0.47587	T	0.289597327791087	0.24573	T	0.912709	0.68911	D	.	.	.	.	.	.	.	.	-3.029	0.10530	T	.	.	0.395	0.59291	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.394168	0.30746	18.53	0.9264183828746192	0.22116	0.94838	0.62504	D	AEFBI	0.704072	0.65990	D	-0.0681739725550954	0.38794	2.277689	0.0870409544319142	0.43895	2.68191	0.885931625784354	0.25730	0.487112	0.14033	0	0.54472	0.11627	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.59	4.71	0.59010	2.068000	0.41097	.	.	0.599000	0.40250	1.000000	0.71638	0.950000	0.28999	0.994000	0.71098	0.0:0.8522:0.0:0.1478	10.528	0.44151	343	0.85802	.;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1014.43	41	chr2	178773193	.	C	G	1014.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.338;DP=425;ExcessHet=0;FS=2.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.017;SOR=0.454	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1026,0,1349	9	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	443.45	47	chr2	186504215	.	G	C	443.45	.	AC=3;AF=0.188;AN=16;BaseQRankSum=1.62;DP=389;ExcessHet=10.4813;FS=166.33;InbreedingCoeff=-0.578;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.57;SOR=8.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,16:33:17:.:.:203,0,67:.	5	0	3	2
chr2	197013669	197013669	G	A	exonic	ANKRD44	.	nonsynonymous SNV	ANKRD44:NM_001195144:exon18:c.C1766T:p.S589L,ANKRD44:NM_001367495:exon18:c.C1820T:p.S607L,ANKRD44:NM_001367496:exon18:c.C1766T:p.S589L,ANKRD44:NM_001367497:exon18:c.C1766T:p.S589L	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0187938808886	7.7e-05	0.000199681	0.0001	0	0	0.0009	0	1.501e-05	0.0011	0.0002	9.7e-05	15	154602	rs145893149	5.816e-05	5.814e-05	3.54e-05	8.114e-05	0.0005	4.81e-05	4.432e-05	0.0003	0.0002	2.987e-05	2.236e-05	0	0.0005	3.744e-05	0.0004	2.248e-05	8.283e-05	0.0004	3.284e-05	3.281e-05	2.57e-05	4.03e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.384e-05	2.407e-05	0	0	0	0.0006	0	0	0	0	0.0002	0.229	0.18371	T	0.673	0.06245	T	.	.	.	.	.	.	0.002192	0.37053	N	0.232357	0.846846	0.35156	D	0.625	0.15840	N	-0.13	0.64818	T	-2.14	0.48523	N	0.544	0.57092	-0.9503	0.40920	T	0.115	0.40875	T	10	0.043186456	0.03141	T	0.018794	0.40966	T	0.094	0.27141	.	.	0.59594264156	0.59273	0.2429055142058824	0.24204	.	.	0.674703776836	0.63510	T	0.034552	0.23366	T	-0.284213	0.10226	T	-0.270183	0.47801	T	0.0214450245967606	0.00847	T	0.964504	0.93484	D	0.1692521	0.37431	0.17887364	0.40585	0.1692521	0.37431	0.17887364	0.40584	-10.097	0.74490	D	.	.	0.184	0.42906	B	.;.;.;.;.	.;.;.;.;.	4.645306	0.73998	26.1	0.99191593003987577	0.54994	0.93754	0.59096	D	AEFBI	0.491088	0.52829	N	-0.00630709823642558	0.41570	2.488782	0.12080327781263	0.45614	2.821486	0.814429655860507	0.24413	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.43	4.43	0.52967	5.166000	0.64807	11.853000	0.98135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:1.0:0.0	17.265	0.86969	405	0.82444	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1299.43	33	chr2	197013669	.	G	A	1299.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.86;DP=419;ExcessHet=0;FS=5.223;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.541;SOR=1.252	GT:AD:DP:GQ:PL	0/1:54,47:101:99:1311,0,1329	9	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	1527.34	112	chr2	197523648	.	T	C	1527.34	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.265;DP=605;ExcessHet=4.5998;FS=381.692;InbreedingCoeff=-0.601;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.23;ReadPosRankSum=1.14;SOR=10.505	GT:AD:DP:GQ:PL	0/1:41,24:65:99:122,0,629	1	0	6	3
chr2	201258305	201258305	C	G	exonic	CASP8	.	nonsynonymous SNV	CASP8:NM_001080125:exon1:c.C74G:p.P25R	Hepatocellular carcinoma, somatic	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00341644650533	0.0002	0.000199681	0.0002	0	0	0	0	0.0004	0.0011	0	0.000207	32	154602	rs34210251	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.987e-05	2.236e-05	0.0029	2.519e-05	0	0.0016	9.353e-05	0.0004	5.797e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	9.7e-05	9.048e-05	7.012e-05	0	0	0	0.0035	0.0002	0	0.0034	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	0.899	0.49514	P	0.592	0.50503	P	0.004482	0.01028	U	18.659400	1	0.18198	N	.	.	.	4.24	0.02590	T	-0.01	0.07155	N	0.135	0.13198	-1.0078	0.27603	T	0.016	0.06711	T	9	0.009954512	0.00223	T	0.003416	0.07664	T	0.048	0.13305	.	.	0.620835944356	0.61775	0.1330555284189671	0.13229	1.01308813769	0.74840	0.241224437952	0.02902	T	.	.	.	-0.356653	0.04322	T	-0.470649	0.25446	T	0.13392797263969	0.15740	T	0.29847	0.05558	T	.	.	.	.	.	.	.	.	-3.717	0.19569	T	.	.	0.067	0.02578	B	.	.	0.026058	0.04465	1.184	0.99246078691032391	0.56727	0.03557	0.08760	N	ALL	0.050365	0.08796	N	-0.373260483198781	0.26426	1.442093	-0.571576646970454	0.20236	1.089296	0.999999999999994	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.587068	0.30358	0	0.372554	0.06265	0	.	.	3.94	2.06	0.25932	-0.520000	0.06338	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7459:0.0:0.2541	5.801	0.17677	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1606.43	35	chr2	201258305	.	C	G	1606.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.984;DP=482;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.507;SOR=0.657	GT:AD:DP:GQ:PL	0/1:56,72:128:99:1618,0,1402	9	0	1	0
chr2	203454473	203454473	C	T	exonic	RAPH1	.	nonsynonymous SNV	RAPH1:NM_213589:exon10:c.G1370A:p.R457Q,RAPH1:NM_001329728:exon12:c.G1526A:p.R509Q,RAPH1:NM_203365:exon12:c.G1526A:p.R509Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.0527243920483	.	.	8.725e-06	0	0	0	0	1.574e-05	0	0	6.5e-06	1	154602	rs768545801	3.421e-06	3.42e-06	4.085e-06	2.751e-06	4.473e-05	1e-06	7.3e-07	7.41e-06	2.77e-06	0	4.473e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.72154	D	0.01	0.69154	D	1.0	0.90584	D	0.968	0.71741	D	0.000378	0.45194	D	0.000000	0.999994	0.58761	D	1.915	0.51223	L	-0.92	0.75108	T	-2.84	0.60665	D	0.859	0.89020	0.034	0.82930	D	0.538	0.82941	D	10	0.8268504	0.81862	D	0.052724	0.65185	D	0.623	0.85406	0.509	0.60540	0.817334670928	0.81561	0.4663686137412945	0.46555	0.848943078135	0.68439	0.759454131126	0.75847	T	0.751073	0.93179	D	0.241763	0.77829	D	0.192365	0.82703	D	0.985839426517487	0.76713	D	0.969603	0.94028	D	0.7061124	0.78393	0.58117044	0.75722	0.7061124	0.78394	0.58117044	0.75723	-13.465	0.91188	D	.	.	0.196	0.58738	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.218768	0.87585	29.3	0.99950883948713753	0.99944	0.94909	0.62752	D	AEFBCI	0.876930	0.80124	D	0.787156191822736	0.85293	8.533668	0.819445457520896	0.91111	10.72429	0.999999999927494	0.74766	0.67177	0.52595	0	0.615948	0.52940	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.96	5.96	0.96695	7.905000	0.86479	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.422	0.99051	337	0.86119	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	563.43	33	chr2	203454473	.	C	T	563.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.807;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-1.087;SOR=0.693	GT:AD:DP:GQ:PL	0/1:38,26:64:99:575,0,858	9	0	1	0
chr2	208243587	208243587	T	C	exonic	IDH1	.	nonsynonymous SNV	IDH1:NM_001282386:exon6:c.A538G:p.M180V,IDH1:NM_001282387:exon6:c.A538G:p.M180V,IDH1:NM_005896:exon6:c.A538G:p.M180V	.	.	.	.	.	.	.	.	.	.	.	2464439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.359	0.0471725362425	7.7e-05	.	0.0002	0	0.0015	0	0	4.501e-05	0	0	0.0001358	21	154602	rs374474539	3.216e-05	3.215e-05	3.949e-05	2.476e-05	0.0005	2.478e-05	2.221e-05	0.0003	0.0003	2.988e-05	0.0005	0	0	0	0.0002	1.889e-05	1.656e-05	1.159e-05	1.972e-05	1.97e-05	3.856e-05	0	0.0001	5.24e-06	2.45e-06	2.263e-05	9.08e-06	2.416e-05	0	0.0001	0	0	0	0	0	0	0	0.01	0.56456	D	0.009	0.66756	D	0.281	0.32101	B	0.108	0.31289	B	0.000000	0.84330	D	0.121445	0.999728	0.48557	D	3.33	0.90841	M	-0.19	0.65931	T	-2.63	0.56466	D	0.671	0.68516	-0.4867	0.69126	T	0.271	0.64235	T	10	0.2819928	0.45776	T	0.047173	0.62801	D	0.359	0.67962	.	.	0.781965175485	0.77995	0.718991644645176	0.71842	0.282354618092	0.30694	0.417705476284	0.27522	T	0.621399	0.88138	D	-0.16676	0.25727	T	-0.15535	0.58768	T	0.132652677659736	0.15625	T	0.970903	0.89563	D	0.6366611	0.74653	0.53745896	0.73270	0.6366611	0.74654	0.53745896	0.73271	-5.869	0.45170	T	0.3834943469973371	0.47759	0.240	0.47437	B	.;.;.	.;.;.	3.573721	0.50344	22.9	0.98874931262045029	0.47719	0.94270	0.60634	D	AEFBCI	0.662781	0.63253	D	0.193383685546328	0.50881	3.274017	0.278155143870122	0.54267	3.592145	0.991007068533874	0.32341	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	0.966000	0.28929	2.904000	0.35468	0.609000	0.47794	0.994000	0.38300	1.000000	0.68203	0.992000	0.67800	0.1367:0.0:0.1426:0.7207	7.822	0.28456	828	0.39726	Isopropylmalate dehydrogenase-like domain|Isopropylmalate dehydrogenase-like domain;Isopropylmalate dehydrogenase-like domain|Isopropylmalate dehydrogenase-like domain;Isopropylmalate dehydrogenase-like domain|Isopropylmalate dehydrogenase-like domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	830.43	33	chr2	208243587	.	T	C	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.192;DP=372;ExcessHet=0;FS=4.13;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.194;SOR=1.371	GT:AD:DP:GQ:PL	0/1:22,32:54:99:842,0,517	9	0	1	0
chr2	211712109	211712109	T	A	exonic	ERBB4	.	nonsynonymous SNV	ERBB4:NM_001042599:exon9:c.A1065T:p.K355N,ERBB4:NM_005235:exon9:c.A1065T:p.K355N	Amyotrophic lateral sclerosis 19, Autosomal dominant	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0189250997405	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs748858562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.13088	T	0.55	0.10138	T	0.999	0.77913	D	0.911	0.69585	D	0.000000	0.84330	D	0.000000	0.999945	0.51968	D	0.97	0.24054	L	0.97	0.42502	T	-1.3	0.33197	N	0.546	0.57263	-0.7055	0.60174	T	0.231	0.59719	T	10	0.29511184	0.47081	T	0.018925	0.41149	T	0.173	0.43840	0.476	0.55342	0.74125211765	0.73892	0.8225085520189672	0.82207	0.37558572423	0.39016	0.764939844608	0.76666	T	0.256188	0.78457	T	-0.189028	0.22402	T	-0.509302	0.21388	T	0.78750079870224	0.45526	D	0.726827	0.34112	T	0.46500126	0.64982	0.34961268	0.60583	0.46500126	0.64983	0.34961268	0.60583	-6.621	0.52261	T	0.13091471088821854	0.13816	0.259	0.52219	B	.;.;.	.;.;.	3.236524	0.44165	21.9	0.99307284445152644	0.58869	0.79292	0.39264	D	AEFI	0.310698	0.41664	N	-0.339481463868141	0.27660	1.519389	-0.397596538680113	0.25068	1.376429	6.46920480525073E-4	0.07527	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	-5.26	0.02559	0.201000	0.17074	.	.	0.609000	0.47794	0.978000	0.35038	0.322000	0.24328	0.999000	0.91618	0.0:0.56:0.0:0.44	15.519	0.75589	832	0.38914	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1149.43	35	chr2	211712109	.	T	A	1149.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.115;DP=405;ExcessHet=0;FS=2.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.297;SOR=0.456	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1161,0,962	9	0	1	0
chr2	224856960	224856960	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon15:c.G1690A:p.G564R,DOCK10:NM_001363762:exon15:c.G1747A:p.G583R,DOCK10:NM_014689:exon15:c.G1708A:p.G570R	.	438	1077	6	1	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	.	0.0036	0.00179712	0.0073	0.0013	0.0016	0	0.0189	0.0099	0.0112	0.0027	0.0055885	864	154602	rs147752392	0.0044	0.0044	0.0044	0.0044	0.0046	0.0043	0.0043	0.0045	0.0044	0.0013	0.0012	0.0005	0	0.0143	0.0033	0.0046	0.0042	0.0024	0.0037	0.0037	0.0033	0.0041	0.0048	0.0034	0.0033	0.0044	0.0042	0.0007	0	0.0010	0.0006	0	0.0146	0.0136	0.0048	0.0033	0.0037	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	3.23	0.89537	M	3.44	0.05375	T	-5.6	0.86608	D	0.906	0.90704	-1.0800	0.07349	T	0.061	0.25419	T	10	0.008191079	0.00186	T	.	.	.	0.545	0.81077	0.443	0.49975	0.557637382247	0.55423	0.6570825683408931	0.65645	0.730046716047	0.62692	0.812227606773	0.83834	D	0.270856	0.64315	T	-0.145724	0.28983	T	0.023028	0.71826	D	0.0562138681236204	0.06559	T	0.984901	0.94786	D	0.66764766	0.76307	0.58087593	0.75706	0.66764766	0.76308	0.58087593	0.75707	-11.14	0.81580	D	.	.	0.929	0.89791	P	.;.;.	.;.;.	4.435301	0.68814	25.3	0.99933456748133986	0.99488	0.98110	0.79682	D	AEFBI	0.914574	0.87813	D	0.893626219626821	0.91443	10.88673	0.854522730130527	0.93278	11.93824	0.999999999998327	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	7.557000	0.81197	5.969000	0.51963	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.444	0.94833	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	0.004028	0.000000	0.006793	0.008772	0.000000	0.000000	0.003049	0.003788	0.05	891.43	36	chr2	224856960	.	C	T	891.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.501;DP=408;ExcessHet=0;FS=5.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-1.178;SOR=0.35	GT:AD:DP:GQ:PL	0/1:53,41:94:99:903,0,1197	9	0	1	0
chr2	225513525	225513525	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon3:c.G376A:p.G126S,NYAP2:NM_001371273:exon4:c.G376A:p.G126S	.	428	1066	23	5	0	33	0.0152425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0087	0.00559105	0.0070	0.0131	0.0036	0	0.0015	0.0095	0.0068	0.0013	0.0064488	997	154602	rs61752215	0.0066	0.0066	0.0067	0.0065	0.0161	0.0065	0.0064	0.0135	0.0125	0.0105	0.0042	0.0572	2.52e-05	0.0015	0.0161	0.0060	0.0102	0.0011	0.0079	0.0079	0.0083	0.0075	0.0109	0.0075	0.0074	0.0101	0.0098	0.0109	0	0.0044	0.0550	0	0.0016	0.0170	0.0066	0.0067	0.0010	1.0	0.00964	T	0.985	0.02393	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.955	0.23872	L	1.28	0.35960	T	0.06	0.06253	N	0.839	0.83473	-1.0657	0.10386	T	0.098	0.36548	T	10	0.0072583854	0.00165	T	.	.	.	0.271	0.58633	.	.	0.043077524339	0.03247	0.19063985266315145	0.18981	0.340736581271	0.36013	0.712054312229	0.68891	T	0.004777	0.04195	T	-0.423853	0.01617	T	-0.371224	0.36745	T	0.0854194623662757	0.10666	T	0.791221	0.43226	T	0.1879688	0.40274	0.24215227	0.49630	0.1879688	0.40274	0.24215227	0.49628	2.523	0.00032	T	.	.	0.148	0.32804	B	.;.	.;.	3.433565	0.47730	22.5	0.98737237100527531	0.45452	0.93948	0.59658	D	AEFGBHCI	0.931760	0.92107	D	0.355289609203242	0.59019	4.078083	0.363728750906551	0.59340	4.110883	1.0	0.98316	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.526000	0.97097	11.744000	0.95258	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.434	0.94775	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.020202	0.023098	0.038012	0.000000	0.034483	0.009146	0.003788	0.1	9794.14	35	chr2	225513525	.	G	A	9794.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.24;DP=774;ExcessHet=0.2348;FS=2.445;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=0.333;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,121:264:99:0|1:225513525_G_A:4614,0,5631:225513525	8	0	2	0
chr2	225513526	225513526	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon3:c.G377A:p.G126D,NYAP2:NM_001371273:exon4:c.G377A:p.G126D	.	426	1068	23	5	0	33	0.0152144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	.	0.0088	0.00539137	0.0070	0.0131	0.0033	0	0.0015	0.0095	0.0068	0.0013	0.0064229	993	154602	rs61753537	0.0066	0.0066	0.0067	0.0065	0.0161	0.0065	0.0064	0.0135	0.0125	0.0106	0.0040	0.0572	2.521e-05	0.0015	0.0161	0.0060	0.0102	0.0011	0.0079	0.0079	0.0082	0.0075	0.0109	0.0075	0.0074	0.0101	0.0098	0.0109	0	0.0042	0.0550	0	0.0016	0.0170	0.0066	0.0066	0.0010	0.152	0.24468	T	0.627	0.07267	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.67	0.78151	M	0.94	0.43672	T	-2.32	0.51478	N	0.91	0.91162	-0.8570	0.51477	T	0.185	0.53376	T	10	0.007973403	0.00181	T	.	.	.	0.303	0.62400	.	.	0.102598925029	0.09809	0.2733870242097265	0.27251	0.672938121939	0.59561	0.790424525738	0.80507	T	0.086051	0.37638	T	-0.3985	0.02369	T	-0.334806	0.40931	T	0.0451339892480626	0.04626	T	0.947205	0.79675	D	0.39915887	0.60674	0.43386617	0.66925	0.39915887	0.60675	0.43386617	0.66925	-6.284	0.48595	T	.	.	0.788	0.76741	P	.;.	.;.	4.722858	0.75993	26.4	0.9982111281595506	0.90414	0.93948	0.59658	D	AEFGBHCI	0.931760	0.92107	D	0.568793636542226	0.71232	5.619923	0.516089587561411	0.69071	5.308454	1.0	0.98316	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.526000	0.97097	11.744000	0.95258	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.434	0.94775	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.020202	0.023098	0.038012	0.000000	0.034483	0.009146	0.003788	0.1	9794.14	35	chr2	225513526	.	G	A	9794.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=775;ExcessHet=0.2348;FS=2.445;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=0.495;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,121:264:99:0|1:225513525_G_A:4614,0,5631:225513525	8	0	2	0
chr2	231525360	231525360	C	T	exonic	NMUR1	.	nonsynonymous SNV	NMUR1:NM_006056:exon3:c.G964A:p.V322I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00243931198973	.	0.00159744	0.0011	0	8.669e-05	0	0	0	0.0011	0.0079	0.0009185	142	154602	rs561296009	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0005	0.0074	0.0072	5.974e-05	0	3.827e-05	2.519e-05	0	0.0002	1.709e-05	0.0005	0.0078	0.0003	0.0003	0.0002	0.0004	0.0083	0.0003	0.0002	0.0062	0.0055	7.215e-05	0	6.533e-05	0	0	0	0	2.94e-05	0.0024	0.0083	0.131	0.26629	T	0.206	0.27056	T	0.009	0.15093	B	0.008	0.13708	B	0.016126	0.28059	N	0.422188	0.999949	0.19238	N	0.235	0.09667	N	1.24	0.36691	T	0.58	0.02598	N	0.031	0.00770	-1.0879	0.05890	T	0.030	0.12848	T	10	0.013422489	0.00285	T	0.002439	0.04813	T	0.101	0.28911	0.715	0.85051	0.405700215632	0.40186	0.17421341847945582	0.17340	0.14311169101	0.16145	0.227450877428	0.01784	T	0.076473	0.35426	T	-0.666599	0.00057	T	-0.725313	0.04543	T	0.0269949021824409	0.01543	T	0.237876	0.03362	T	0.018911634	0.00415	0.04143181	0.04708	0.018911634	0.00415	0.04143181	0.04707	-4.89	0.35622	T	.	.	0.077	0.06525	B	.	.	0.129939	0.05258	1.759	0.87237076987361351	0.17085	0.72888	0.35663	D	AEFBI	0.131683	0.25072	N	-1.52213438768635	0.01704	0.07460626	-1.46961609071195	0.02597	0.1197147	0.184577065919541	0.17918	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.22	-3.63	0.04238	2.173000	0.42099	1.100000	0.24060	-1.538000	0.00984	1.000000	0.71638	0.048000	0.21764	0.097000	0.18139	0.4599:0.1181:0.198:0.224	0.793	0.00994	952	0.10565	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	.	.	.	.	.	.	.	.	0.05	1809.43	34	chr2	231525360	.	C	T	1809.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=516;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=2.05;SOR=0.67	GT:AD:DP:GQ:PL	0/1:80,77:157:99:1821,0,1768	9	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4156.0	117	chr2	232847517	.	A	*	4156.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.101;DP=939;ExcessHet=0.3131;FS=1.955;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=0.509;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,120:120:99:.:.:5166,361,0:.	4	2	4	0
chr2	233551416	233551416	G	A	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001365479:exon7:c.C797T:p.T266I,USP40:NM_001382295:exon7:c.C797T:p.T266I,USP40:NM_001382296:exon7:c.C797T:p.T266I,USP40:NM_001382297:exon7:c.C797T:p.T266I,USP40:NM_001382299:exon7:c.C797T:p.T266I,USP40:NM_001382300:exon7:c.C797T:p.T266I,USP40:NM_001382301:exon7:c.C797T:p.T266I,USP40:NM_018218:exon7:c.C797T:p.T266I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0211454813187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	0.991	0.64070	D	0.931	0.66596	D	0.021598	0.26803	N	0.451624	0.802056	0.34524	D	2.48	0.72069	M	1.48	0.31731	T	-3.2	0.64710	D	0.744	0.74918	-0.4265	0.71180	T	0.233	0.59928	T	10	0.7485858	0.75469	D	0.021145	0.43873	T	0.352	0.67326	0.523	0.62668	0.585382094262	0.58212	0.2674321121739993	0.26656	0.173741090173	0.19561	0.495058357716	0.38140	T	0.013729	0.11817	T	-0.0713418	0.41112	T	-0.340254	0.40316	T	0.942872643470764	0.61749	D	0.89491	0.63503	D	0.13332939	0.31015	0.17038059	0.39143	0.13332939	0.31015	0.17038059	0.39142	-9.721	0.72224	D	.	.	0.142	0.34840	B	.;.;.	.;.;.	3.037286	0.40708	21.2	0.9989187869890449	0.96589	0.89378	0.49806	D	AEFBI	0.321575	0.42433	N	0.601830131885395	0.73291	5.942076	0.506147270835235	0.68402	5.215241	0.999999948911874	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	3.659000	0.54227	7.466000	0.59102	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.709000	0.34421	0.0:0.0:1.0:0.0	19.660	0.95860	773	0.48803	.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	239.82	35	chr2	233551416	.	G	A	239.82	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.143;DP=467;ExcessHet=1.5895;FS=202.816;InbreedingCoeff=-0.2375;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.482;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,7:44:42:0|1:233551415_T_C:42,0,1296:233551415	6	0	4	0
chr2	241494066	241494066	C	T	exonic	FARP2	.	stopgain	FARP2:NM_014808:exon27:c.C3106T:p.Q1036X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.266e-06	0	0	0	0	1.621e-05	0	0	1.29e-05	2	154602	rs775042492	2.176e-05	2.257e-05	2.123e-05	2.232e-05	2.621e-05	1.509e-05	1.299e-05	1.795e-05	1.538e-05	0	0	0	0	0	0	2.621e-05	1.895e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256314	0.15404	N	0.609098	0.999579	0.47641	D	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368301	0.87904	D	0.291262	0.87750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.074091	0.94497	34	0.9455643464012079	0.25077	0.35724	0.25368	N	AEFDBCI	0.254020	0.37341	N	0.219335905239695	0.52138	3.38983	-0.148270649185404	0.33474	1.915217	0.827822606878035	0.24639	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.508809	0.08732	0	.	.	2.91	1.72	0.23498	-0.005000	0.12791	0.807000	0.21715	0.530000	0.24713	0.005000	0.17040	0.663000	0.26026	0.008000	0.08271	0.4071:0.5929:0.0:0.0	5.949	0.18470	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	.	.	.	.	.	.	.	.	0.05	1811.43	39	chr2	241494066	.	C	T	1811.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.782;DP=510;ExcessHet=0;FS=6.346;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.31;SOR=1.063	GT:AD:DP:GQ:PL	0/1:67,71:138:99:1823,0,1858	9	0	1	0
chr2	241872992	241872992	C	G	exonic	RTP5	.	nonsynonymous SNV	RTP5:NM_173821:exon2:c.C1437G:p.F479L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00194085046419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.17410	T	0.286	0.21277	T	0.114	0.26387	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	0.99	0.25021	L	2.26	0.17596	T	-1.38	0.34198	N	0.03	0.00717	-0.9967	0.30838	T	0.023	0.09968	T	9	0.05341187	0.05529	T	0.001941	0.03456	T	0.005	0.00259	0.502	0.59460	0.0297737177859	0.01360	0.08146663059390093	0.08081	0.204166068536	0.22834	0.398306906223	0.24832	T	0.019483	0.15513	T	-0.295696	0.09071	T	-0.662524	0.08096	T	0.116898508070938	0.14123	T	0.321368	0.06521	T	0.056227617	0.11033	0.0650823	0.13140	0.056227617	0.11033	0.0650823	0.13140	-2.625	0.06695	T	.	.	0.834	0.78938	P	.	.	-0.305306	0.02594	0.320	0.6153180354958101	0.06732	0.01672	0.05346	N	AEFDBI	0.031482	0.03376	N	-1.33959908696544	0.03233	0.1441141	-1.41587822611353	0.03093	0.1436064	0.961300638053437	0.28545	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.14	0.162	0.14269	-0.279000	0.08512	-2.396000	0.03807	-0.993000	0.01841	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6033:0.2392:0.1574	4.013	0.09120	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1866.43	39	chr2	241872992	.	C	G	1866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.03;DP=492;ExcessHet=0;FS=1.273;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.103;SOR=0.56	GT:AD:DP:GQ:PL	0/1:86,69:155:99:1878,0,2017	9	0	1	0
chr3	4410875	4410875	G	A	exonic	SUMF1	.	nonsynonymous SNV	SUMF1:NM_001164674:exon6:c.C869T:p.T290M,SUMF1:NM_001164675:exon7:c.C944T:p.T315M,SUMF1:NM_182760:exon7:c.C944T:p.T315M	Multiple sulfatase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2137061	Inborn_genetic_diseases|Multiple_sulfatase_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010088,MedGen:C0268263,OMIM:272200,Orphanet:585	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.330	0.104735074412	0.0002	.	5.768e-05	0	8.664e-05	0	0.0002	5.994e-05	0	6.056e-05	4.53e-05	7	154602	rs146164667	4.653e-05	4.652e-05	4.493e-05	4.814e-05	5.797e-05	3.728e-05	3.412e-05	3.632e-05	3.288e-05	2.988e-05	4.472e-05	0	0	1.872e-05	0	4.677e-05	0.0001	5.797e-05	6.572e-05	6.567e-05	8.993e-05	4.037e-05	0.0001	3.517e-05	2.617e-05	4.765e-05	3.339e-05	7.24e-05	0	0	0	0	0	0	0.0001	0	0	0.089	0.32141	T	0.091	0.40110	T	0.934	0.52202	P	0.493	0.47443	P	0.276150	0.15033	N	0.697001	1	0.08975	N	1.055	0.26876	L	-3.46	0.94508	D	-1.08	0.33401	N	0.149	0.42737	-0.0443	0.81327	T	0.689	0.89246	D	10	0.12035918	0.22796	T	0.104735	0.77947	D	0.330	0.65226	.	.	0.777478822742	0.77542	0.5842205896079422	0.58351	0.0938416663665	0.10600	0.309596598148	0.11846	T	0.604521	0.88607	D	-0.162139	0.26431	T	-0.255343	0.49287	T	0.024825333057979	0.01249	T	0.808019	0.54241	T	0.040013433	0.05631	0.03569767	0.02870	0.024084842	0.01205	0.044559356	0.05798	-7.544	0.57919	D	0.17035818648955256	0.21415	0.067	0.11269	B	.;.;.;.	.;.;.;.	1.364693	0.17740	13.34	0.99439743937600378	0.64720	0.16246	0.19299	N	AEFDGBCIJ	0.112289	0.22200	N	-0.580902577400272	0.19524	1.022561	-0.680558358315045	0.17447	0.9277631	0.999989433794365	0.51787	0.75658	0.98901	0	0.522029	0.08744	0	0.659464	0.59346	0	0.656636	0.63459	0	.	.	5.42	1.43	0.21585	0.923000	0.28364	0.609000	0.20011	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.2231:0.1315:0.6454:0.0	6.479	0.21252	923	0.18507	Sulfatase-modifying factor enzyme;.;Sulfatase-modifying factor enzyme;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1713.43	42	chr3	4410875	.	G	A	1713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.016;DP=497;ExcessHet=0;FS=1.899;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.97;SOR=0.85	GT:AD:DP:GQ:PL	0/1:96,76:172:99:1725,0,2290	9	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	994.1	208	chr3	15003967	.	C	G	994.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.547;DP=1799;ExcessHet=4.5998;FS=193.146;InbreedingCoeff=-0.431;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.99;SOR=11.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:206,54:260:32:.:.:32,0,5769:.	4	0	6	0
chr3	15332386	15332386	C	T	exonic	SH3BP5	.	nonsynonymous SNV	SH3BP5:NM_004844:exon1:c.G23A:p.S8N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.235365405073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.443e-06	1.368e-06	0	2.924e-06	2.523e-05	2.4e-07	9e-08	4.19e-06	1.57e-06	0	0	0	0	0	0	0	0	2.523e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.15251	T	0.796	0.04117	T	0.0	0.02946	B	0.0	0.01387	B	0.623602	0.10754	U	0.720818	1	0.81001	D	0.205	0.09354	N	.	.	.	0.0	0.07008	N	0.094	0.07398	-1.0423	0.16621	T	0.085	0.33213	T	9	0.07976231	0.12870	T	0.235365	0.88452	D	0.092	0.26621	0.138	0.04187	0.436671004673	0.43285	0.045665287350674134	0.04510	0.818075938871	0.67025	0.851078093052	0.89777	D	0.071235	0.34157	T	-0.231559	0.16443	T	-0.570395	0.15413	T	0.130770221352577	0.15453	T	0.465553	0.13627	T	0.063230425	0.13291	0.08101372	0.18374	0.063230425	0.13290	0.08101372	0.18374	-5.198	0.38921	T	.	.	0.072	0.04277	B	.	.	1.550534	0.19873	14.48	0.98844555736520823	0.47186	0.27136	0.23192	N	AEFDBHCIJ	0.094865	0.19176	N	-0.500131531688943	0.22076	1.17627	-0.370916445422149	0.25868	1.425266	0.99999999994515	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.581474	0.35302	0	.	.	3.53	2.65	0.30588	-0.117000	0.10681	-0.020000	0.12938	-1.100000	0.01511	0.561000	0.27433	0.005000	0.19230	0.050000	0.15192	0.0:0.8698:0.0:0.1302	6.955	0.23746	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	177.43	26	chr3	15332386	.	C	T	177.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.404;DP=202;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.12;ReadPosRankSum=1.46;SOR=0.903	GT:AD:DP:GQ:PL	0/1:20,9:29:99:189,0,510	9	0	1	0
chr3	25733900	25733900	C	A	exonic	NGLY1	.	nonsynonymous SNV	NGLY1:NM_001145293:exon8:c.G1178T:p.R393L,NGLY1:NM_001145294:exon8:c.G1106T:p.R369L,NGLY1:NM_001145295:exon8:c.G1232T:p.R411L,NGLY1:NM_018297:exon8:c.G1232T:p.R411L	Congenital disorder of deglycosylation, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0126869778394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	2.052e-06	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.08212	T	0.534	0.10429	T	0.017	0.24543	B	0.019	0.24114	B	0.000049	0.53742	D	0.120349	0.992156	0.81001	D	-0.015	0.05111	N	1.28	0.35960	T	-0.15	0.09796	N	0.389	0.54147	-1.0701	0.09391	T	0.057	0.23791	T	10	0.18790793	0.34322	T	0.012687	0.31483	T	0.130	0.35528	0.488	0.57257	0.650396906566	0.64749	0.6326354292416294	0.63197	0.0443505034524	0.04785	0.514817476273	0.40897	T	0.108747	0.42204	T	-0.107062	0.35256	T	-0.391564	0.34367	T	0.961127579212189	0.65994	D	0.922508	0.71813	D	0.1407037	0.32452	0.16880266	0.38866	0.1407037	0.32452	0.16880266	0.38866	-1.996	0.03165	T	0.1931836056884787	0.25411	0.286	0.52360	B	.;.;.;.;.	.;.;.;.;.	3.178197	0.43127	21.7	0.74844782770693907	0.10849	0.94860	0.62581	D	AEFBI	0.612955	0.60083	D	-0.0787052111906486	0.38328	2.243107	0.181892034439614	0.48854	3.095955	0.99999895525639	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.77	5.77	0.91077	5.851000	0.69211	4.917000	0.46007	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.363	0.98865	671	0.60868	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1789.43	47	chr3	25733900	.	C	A	1789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=584;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=1.02;SOR=0.711	GT:AD:DP:GQ:PL	0/1:95,82:177:99:1801,0,2054	9	0	1	0
chr3	32873854	32873854	A	G	exonic	TRIM71	.	nonsynonymous SNV	TRIM71:NM_001039111:exon2:c.A889G:p.I297V	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	.	.	0.000798722	0.0018	0.0001	8.657e-05	0	0	1.516e-05	0	0.0148	0.0014618	226	154602	rs530720674	0.0008	0.0008	0.0004	0.0012	0.0129	0.0008	0.0008	0.0123	0.0120	0	0	0	0	0	0.0009	2.88e-05	0.0007	0.0129	0.0004	0.0004	0.0002	0.0006	0.0121	0.0003	0.0003	0.0096	0.0087	2.411e-05	0	0	0	0	0	0	0	0	0.0121	0.271	0.15984	T	0.358	0.17064	T	0.993	0.65571	D	0.987	0.77487	D	0.000001	0.62929	U	0.000000	1	0.81001	D	1.02	0.25474	L	0.96	0.42888	T	-0.57	0.17210	N	0.276	0.31253	-0.9559	0.39934	T	0.171	0.51197	T	10	0.015493184	0.00325	T	.	.	.	0.204	0.49076	0.564	0.68499	0.440933369655	0.43716	0.37916615449894325	0.37831	0.886304860184	0.70013	0.671640992165	0.63071	T	0.082684	0.36884	T	-0.377469	0.03232	T	-0.304597	0.44238	T	0.0950434490508009	0.11803	T	0.832517	0.50110	T	0.11061842	0.26145	0.081068866	0.18393	0.11061842	0.26144	0.081068866	0.18393	-4.924	0.36004	T	.	.	0.179	0.39029	B	.	.	2.447179	0.31507	18.76	0.99643338050678387	0.76819	0.96033	0.67230	D	AEFDGBHCI	0.688586	0.64953	D	0.479129773976413	0.65871	4.877484	0.515321809838017	0.69019	5.301078	1.0	0.98316	0.645754	0.44609	0	0.615948	0.52940	0	0.696144	0.63334	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	5.224000	0.65119	6.990000	0.57158	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.778	0.69366	849	0.35778	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1523.43	41	chr3	32873854	.	A	G	1523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.298;DP=479;ExcessHet=0;FS=0.676;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.111;SOR=0.796	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1535,0,1373	9	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	116.92	86	chr3	48174283	.	C	G	116.92	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-1.236;DP=735;ExcessHet=0.7463;FS=134.56;InbreedingCoeff=-0.2658;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.31;SOR=9.624	GT:AD:DP:GQ:PL	0/1:48,20:72:51:51,0,696	5	0	3	2
chr3	48225345	48225345	A	G	exonic	CAMP	.	nonsynonymous SNV	CAMP:NM_004345:exon4:c.A434G:p.K145R	.	423	1091	8	0	0	8	0.00365297	.	.	.	734111	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.084	0.00551770141081	0.0017	0.000798722	0.0025	0.0002	0.0016	0.0001	0.0021	0.0025	0.0033	0.0061	0.0022639	350	154602	rs55708841	0.0026	0.0026	0.0026	0.0027	0.0063	0.0026	0.0025	0.0059	0.0057	0.0003	0.0014	0.0001	0	0.0020	0.0012	0.0027	0.0022	0.0063	0.0023	0.0023	0.0022	0.0023	0.0056	0.0021	0.0020	0.0039	0.0034	0.0004	0	0.0030	0	0.0004	0.0021	0	0.0034	0.0005	0.0056	0.161	0.23631	T	0.192	0.28300	T	.	.	.	.	.	.	0.655875	0.10471	N	0.829666	1	0.08975	N	.	.	.	.	.	.	0.02	0.06739	N	0.153	0.15749	-1.0404	0.17192	T	0.080	0.31645	T	9	0.004702896	0.00099	T	0.005518	0.14227	T	0.084	0.24469	.	.	0.656017828596	0.65314	0.18612583150538917	0.18530	0.131608955516	0.14841	0.343488365412	0.16960	T	.	.	.	-0.579679	0.00194	T	-0.602833	0.12575	T	0.0127265363205766	0.00215	T	0.50435	0.15896	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.712789	0.10815	7.498	0.98271447364863418	0.39768	0.05125	0.10931	N	AEFBI	0.033395	0.03951	N	-0.570577377113834	0.19843	1.041695	-0.802772151304632	0.14429	0.7538354	0.80604200452028	0.24272	0.643511	0.44296	0	0.688494	0.66719	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.24	-1.66	0.07824	0.009000	0.13117	-2.234000	0.04020	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.438:0.1597:0.0934:0.3089	1.127	0.01629	22	0.98466	Cathelicidin, antimicrobial peptide, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	757.43	34	chr3	48225345	.	A	G	757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-2.867;SOR=0.6	GT:AD:DP:GQ:PL	0/1:34,30:64:99:769,0,790	9	0	1	0
chr3	49793178	49793178	G	C	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon13:c.C1757G:p.S586C	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0382643440431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.0	0.92824	D	0.998	0.73220	D	0.909	0.64565	D	.	.	.	.	0.730722	0.33716	D	2.675	0.78361	M	1.99	0.21666	T	-3.15	0.64132	D	0.705	0.70878	-0.9832	0.34258	T	0.088	0.33968	T	9	0.8071664	0.80042	D	0.038264	0.58119	D	0.262	0.57482	0.583	0.70990	0.488055169367	0.48438	0.5962366985233843	0.59553	0.231585736217	0.25714	0.410056918859	0.26465	T	0.194527	0.55033	T	-0.00474477	0.50998	T	-0.244592	0.50349	T	0.960277736186981	0.65760	D	0.665433	0.27458	T	0.20680329	0.42867	0.21172972	0.45613	0.20680329	0.42866	0.21172972	0.45612	-9.158	0.68708	D	.	.	0.201	0.42535	B	.	.	4.333181	0.66420	25.0	0.9891492476089182	0.48436	0.97524	0.75311	D	AEFGI	0.525217	0.54808	D	0.502562566161703	0.67241	5.055465	0.502225174607636	0.68140	5.179191	0.999999999808527	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.78	5.78	0.91418	5.426000	0.66214	11.775000	0.95959	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.132000	0.19645	0.0:0.0:1.0:0.0	16.986	0.86213	2	0.99499	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3144.43	35	chr3	49793178	.	G	C	3144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=531;ExcessHet=0;FS=2.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.688;SOR=0.547	GT:AD:DP:GQ:PL	0/1:105,116:221:99:3156,0,2795	9	0	1	0
chr3	49798873	49798873	G	A	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon4:c.C448T:p.R150W	.	412	1098	11	1	0	13	0.00588502	.	.	.	3292817	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0648912581705	.	.	0.0001	0	8.98e-05	0	0	6.17e-05	0.0011	0.0004	7.76e-05	12	154602	rs757284426	8.826e-05	8.893e-05	6.807e-05	0.0001	0.0009	7.556e-05	7.102e-05	0.0005	0.0004	0	0.0004	0	0	0	0.0009	4.497e-05	0.0001	0.0006	0.0002	0.0002	0.0001	0.0003	0.0021	0.0001	0.0001	0.0011	0.0009	2.407e-05	0	0.0010	0	0	0	0	1.47e-05	0.0005	0.0021	0.174	0.42487	T	0.027	0.55341	D	0.993	0.68779	D	0.548	0.52381	P	.	.	.	.	1	0.08975	N	1.7	0.43825	L	0.43	0.56772	T	-2.18	0.64246	N	0.337	0.37820	-1.0721	0.08957	T	0.054	0.23034	T	9	0.13008124	0.24755	T	0.064891	0.69415	D	0.114	0.32008	0.549	0.66436	0.321951552304	0.31805	0.2815806244629813	0.28071	0.0731342430252	0.08196	0.244320109487	0.03193	T	0.151213	0.49105	T	-0.384971	0.02897	T	-0.454501	0.27201	T	0.0436726099490868	0.04360	T	0.861714	0.55578	D	0.075667776	0.17063	0.08783108	0.20439	0.075667776	0.17063	0.08783108	0.20439	-6.545	0.50633	T	.	.	0.088	0.14614	B	.;.	.;.	1.421024	0.18380	13.70	0.99819624502397142	0.90238	0.08500	0.14421	N	AEFDBI	0.111530	0.22079	N	-0.831311963618236	0.12514	0.6104934	-0.861418357148815	0.13013	0.6727184	0.999942491101769	0.47345	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.81	0.456	0.15868	-0.024000	0.12382	0.005000	0.13351	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.464000	0.28207	0.0:0.135:0.4495:0.4155	8.860	0.34412	2	0.99499	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1	3716.14	38	chr3	49798873	.	G	A	3716.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.42;DP=632;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.294;SOR=0.717	GT:AD:DP:GQ:PL	0/1:85,77:162:99:1997,0,2091	8	0	2	0
chr3	50295070	50295070	C	T	exonic	HYAL3	.	nonsynonymous SNV	HYAL3:NM_001200029:exon2:c.G533A:p.R178H,HYAL3:NM_001200030:exon2:c.G533A:p.R178H,HYAL3:NM_003549:exon2:c.G533A:p.R178H	.	417	1041	59	5	0	69	0.0320781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0035	0.00539137	0.0053	0.0006	0.0045	0	0	0.0045	0.01	0.0171	0.004877	754	154602	rs139756596	0.0039	0.0039	0.0034	0.0044	0.0178	0.0038	0.0038	0.0170	0.0167	0.0007	0.0040	0.0331	0	7.569e-05	0.0168	0.0024	0.0061	0.0178	0.0032	0.0032	0.0030	0.0034	0.0170	0.0029	0.0028	0.0140	0.0129	0.0006	0	0.0041	0.0331	0	0.0002	0.0102	0.0027	0.0028	0.0170	0.004	0.65419	D	0.029	0.65728	D	1.0	0.90584	D	0.999	0.97372	D	0.000042	0.53742	U	0.069612	0.990805	0.81001	D	3.48	0.92553	M	1.72	0.26588	T	-3.56	0.68880	D	0.299	0.33796	-0.7459	0.58149	T	0.140	0.45922	T	10	0.006772101	0.00154	T	.	.	.	0.250	0.55888	.	.	0.104622674875	0.10061	0.7554816360088094	0.75495	0.737908363262	0.63085	0.288535296917	0.08710	T	0.446394	0.78906	T	-0.423238	0.01632	T	-0.367103	0.37227	T	0.0763690686936043	0.09517	T	0.819918	0.47811	T	0.22886135	0.45613	0.2439974	0.49856	0.22886135	0.45613	0.2439974	0.49855	-7.173	0.55288	T	.	.	0.107	0.22098	B	.;.;.;.	.;.;.;.	3.297172	0.45244	22.1	0.99949030492686874	0.99931	0.33740	0.24901	N	AEFBCI	.	.	.	0.351077098192796	0.58796	4.054184	0.17647269697279	0.48562	3.07037	0.999997892522706	0.74766	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.74	2.89	0.32713	0.397000	0.20608	1.098000	0.24042	-0.186000	0.09761	0.024000	0.20007	0.869000	0.27571	0.945000	0.48827	0.0:0.8124:0.0:0.1876	9.003	0.35256	3	0.99430	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.005051	0.012228	0.029240	0.000000	0.017241	0.018293	0.015152	0.1	2143.14	37	chr3	50295070	.	C	T	2143.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.88;DP=450;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.6;SOR=0.692	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1067,0,1187	8	0	2	0
chr3	57557400	57557400	G	A	exonic	PDE12	.	nonsynonymous SNV	PDE12:NM_001322176:exon1:c.G1021A:p.G341S,PDE12:NM_001322177:exon1:c.G1021A:p.G341S,PDE12:NM_177966:exon1:c.G1021A:p.G341S	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	.	0.0002	0.00878594	0.0041	0.0002	0.0007	0	0	5.996e-05	0.0055	0.0286	0.0035899	555	154602	rs202007984	0.0019	0.0019	0.0010	0.0028	0.0303	0.0018	0.0018	0.0293	0.0289	5.974e-05	0.0002	0.0008	7.557e-05	0	0.0016	1.439e-05	0.0016	0.0303	0.0014	0.0014	0.0007	0.0021	0.0413	0.0012	0.0012	0.0366	0.0348	2.409e-05	0	0.0003	0.0009	0	0	0	1.47e-05	0.0009	0.0413	0.0	0.91255	D	0.018	0.92824	D	0.997	0.70673	D	0.892	0.66722	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.36	0.34107	L	-1.18	0.78314	T	-5.9	0.88839	D	0.813	0.80866	0.068	0.83577	D	0.564	0.84179	D	10	0.010037243	0.00225	T	.	.	.	0.603	0.84345	.	.	0.889734786325	0.88865	0.7581215157733566	0.75760	.	.	0.667153358459	0.62432	T	0.495882	0.81841	T	-0.16251	0.26374	T	0.0154188	0.71333	D	0.097231623483076	0.12049	T	0.914909	0.70203	D	0.9252455	0.93763	0.86099815	0.92247	0.9252455	0.93763	0.86099815	0.92248	-9.029	0.67884	D	.	.	0.462	0.71978	A	.;.	.;.	4.777826	0.77414	26.7	0.99868084763331821	0.94637	0.95560	0.65208	D	ALL	0.937278	0.93483	D	0.77956842798287	0.84812	8.393525	0.786675839753086	0.88852	9.740399	1.0	0.98316	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	5.42	5.42	0.78666	9.510000	0.97004	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	19.213	0.93753	201	0.92177	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.026515	0.05	3951.43	41	chr3	57557400	.	G	A	3951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=638;ExcessHet=0;FS=1.49;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.313;SOR=0.817	GT:AD:DP:GQ:PL	0/1:122,145:267:99:3963,0,2790	9	0	1	0
chr3	63831170	63831170	A	C	exonic	C3orf49	.	nonsynonymous SNV	C3orf49:NM_001355236:exon4:c.A631C:p.M211L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00506704006673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.221	0.28032	T	0.003	0.11197	B	0.003	0.08700	B	0.342008	0.13948	N	0.713881	1	0.08975	N	.	.	.	.	.	.	-0.75	0.21003	N	0.195	0.21449	-1.0526	0.13682	T	0.057	0.23904	T	8	0.07217845	0.10739	T	0.005067	0.12846	T	0.006	0.00375	0.255	0.19533	0.0297737177859	0.01360	0.018217260818407622	0.01775	.	.	.	.	.	0.014042	0.12031	T	-0.179273	0.23844	T	-0.495289	0.22836	T	0.087689608335495	0.10941	T	0.608539	0.22995	T	0.08981169	0.20996	0.15036981	0.35467	0.08981169	0.20995	0.15036981	0.35466	-1.606	0.01996	T	.	.	0.168	0.40408	B	.;.;.;.	.;.;.;.	-0.039357	0.04020	0.920	0.57435343462636457	0.05769	0.04264	0.09797	N	AEFBI	0.090701	0.18377	N	-0.986855568986404	0.08884	0.4182786	-1.04929086742339	0.08722	0.4302188	0.16188703384139	0.17605	0.475973	0.10046	0	0.446627	0.06534	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	6.03	-2.78	0.05512	-0.106000	0.10860	-0.267000	0.10379	0.756000	0.94297	0.011000	0.18532	0.000000	0.08366	0.674000	0.33367	0.452:0.1381:0.4099:0.0	6.637	0.22081	517	0.74620	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	761.43	36	chr3	63831170	.	A	C	761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.825;SOR=0.752	GT:AD:DP:GQ:PL	0/1:38,33:71:99:773,0,916	9	0	1	0
chr3	63912714	63912714	-	GCC	exonic	ATXN7	.	nonframeshift insertion	ATXN7:NM_001177387:exon2:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_001377406:exon2:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_000333:exon3:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_001377405:exon3:c.116_117insGCC:p.P43_Q44insP	Spinocerebellar ataxia 7, Autosomal dominant	30	1415	44	2	31	79	0.0166782	.	.	.	2827531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0	0	0	0.0049	0.0169	0.125	0.0165	0.0008085	125	154602	rs770364745	0.0074	0.0063	0.0073	0.0075	0.0273	0.0072	0.0072	0.0223	0.0205	0.0021	0.0049	0.0091	0.0008	0.0031	0.0273	0.0077	0.0079	0.0069	0.0079	0.0079	0.0079	0.0079	0.0167	0.0075	0.0074	0.0150	0.0143	0.0022	0.0176	0.0167	0.0091	0.0006	0.0026	0.0350	0.0104	0.0132	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059524	0.064103	0.051282	0.044776	0.000000	0.214286	0.049296	0.042857	0.05	547.39	13	chr3	63912714	.	A	AGCC	547.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.918;DP=186;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=27.37;ReadPosRankSum=2.14;SOR=0.963	GT:AD:DP:GQ:PL	0/1:13,7:20:99:559,0,415	9	0	1	0
chr3	65391268	65391268	T	G	exonic	MAGI1	.	nonsynonymous SNV	MAGI1:NM_001033057:exon14:c.A2290C:p.T764P,MAGI1:NM_001365903:exon14:c.A2293C:p.T765P,MAGI1:NM_001365904:exon14:c.A2293C:p.T765P,MAGI1:NM_001365905:exon14:c.A2293C:p.T765P,MAGI1:NM_004742:exon14:c.A2290C:p.T764P,MAGI1:NM_015520:exon14:c.A2290C:p.T764P	.	8	1462	50	2	0	54	0.018133	.	.	.	3547128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.032	0.00554250367539	0.0019	0.00179712	0.0025	0.0004	0.0011	0	0	0.0033	0.0022	0.0038	0.0022962	355	154602	rs61740330	0.0017	0.0017	0.0015	0.0019	0.0234	0.0017	0.0017	0.0202	0.0190	0.0004	0.0014	0.0105	2.519e-05	3.744e-05	0.0234	0.0014	0.0032	0.0038	0.0016	0.0016	0.0015	0.0017	0.0031	0.0014	0.0014	0.0019	0.0016	0.0004	0	0.0019	0.0115	0	9.413e-05	0.0102	0.0019	0.0047	0.0031	0.086	0.36709	T	0.299	0.22291	T	0.0	0.57599	B	0.001	0.55480	B	0.004631	0.33547	N	0.375437	0.959861	0.38149	D	-0.135	0.04517	N	2.25	0.18875	T	0.47	0.03090	N	0.105	0.13769	-1.0333	0.19395	T	0.034	0.14726	T	10	0.0046277046	0.00096	T	0.005543	0.14288	T	0.032	0.07718	.	.	0.23798241625	0.23396	0.13796831742168336	0.13720	0.725152338694	0.62432	0.317334890366	0.13017	T	0.041969	0.26030	T	-0.525761	0.00407	T	-0.530101	0.19277	T	0.00590482259284364	0.00065	T	.	.	.	.	.	.	.	.	.	.	.	-12.517	0.87278	D	.	.	0.065	0.02399	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.980096	0.25155	16.66	0.96601938851103708	0.30409	0.52638	0.29179	D	AEFDBI	0.231897	0.35505	N	-0.698435024602363	0.16065	0.8152945	-0.620132010009374	0.18976	1.016116	0.998471281238113	0.37033	0.562547	0.31514	0	0.573888	0.26702	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.98	0.817	0.17914	-0.035000	0.12156	-0.272000	0.10340	0.665000	0.62972	0.814000	0.29906	0.430000	0.24851	0.993000	0.69303	0.0:0.2598:0.1263:0.614	5.872	0.18059	839	0.37672	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.015609	0.010101	0.013587	0.023392	0.050000	0.000000	0.024390	0.003788	0.05	763.43	33	chr3	65391268	.	T	G	763.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.984;DP=390;ExcessHet=0;FS=0.85;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.279;SOR=0.648	GT:AD:DP:GQ:PL	0/1:49,33:82:99:775,0,1186	9	0	1	0
chr3	68988936	68988936	-	G	exonic	EOGT	.	frameshift insertion	EOGT:NM_001278689:exon11:c.912_913insC:p.D305Rfs*8	Adams-Oliver syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.196e-06	2.052e-06	1.447e-06	2.964e-06	2.592e-05	5.9e-07	1.6e-07	4.3e-06	1.61e-06	0	0	0	0	0	0	0	1.745e-05	2.592e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1970.39	36	chr3	68988936	.	C	CG	1970.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.388;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.453;SOR=0.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,52:119:99:0|1:68988936_C_CG:1982,0,2637:68988936	9	0	1	0
chr3	68988937	68988937	A	T	exonic	EOGT	.	stopgain	EOGT:NM_001278689:exon11:c.T912A:p.Y304X	Adams-Oliver syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.928e-06	3.423e-06	1.447e-06	4.447e-06	2.593e-05	6.9e-07	4.6e-07	4.3e-06	1.61e-06	0	0	0	0	0	0	9.373e-07	1.745e-05	2.593e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000084	0.51296	D	0.176662	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.429	0.46835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.199242	0.20915	T	-0.523974	0.19892	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.390004	0.95131	34	0.98951932757339234	0.49150	0.39054	0.26127	N	ALL	0.187795	0.31509	N	-0.852365044177792	0.11992	0.5818767	-0.915265620071205	0.11733	0.5995991	0.99999459126098	0.74766	0.744818	0.98587	0	0.601575	0.49859	0	0.743671	0.96076	0	0.76194	0.99817	0	.	.	5.72	-6.23	0.01875	-0.008000	0.12724	-2.779000	0.03370	-0.267000	0.06790	0.786000	0.29545	0.000000	0.08366	0.980000	0.58198	0.8518:0.0:0.1482:0.0	16.301	0.82641	645	0.63593	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	6443.32	36	chr3	68988937	.	A	T	6443.32	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.789;DP=706;ExcessHet=2.8389;FS=0.524;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.108;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,52:119:99:0|1:68988936_C_CG:1982,0,2637:68988936	9	0	1	0
chr3	73062596	73062596	C	T	exonic	EBLN2	.	nonsynonymous SNV	EBLN2:NM_018029:exon1:c.C515T:p.P172L	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	0.0115815	0.0058	0.0001	0.0005	0	0	0	0.0056	0.0420	0.0050646	783	154602	rs200718150	0.0024	0.0024	0.0013	0.0034	0.0376	0.0023	0.0023	0.0366	0.0361	0	0.0002	0	2.519e-05	0	0.0003	1.889e-05	0.0030	0.0376	0.0015	0.0015	0.0007	0.0023	0.0437	0.0013	0.0012	0.0389	0.0370	0.0001	0	0.0003	0	0	0	0	0	0.0014	0.0437	0.097	0.30943	T	0.122	0.35710	T	0.997	0.70673	D	0.975	0.73362	D	.	.	.	.	0.999995	0.08975	N	0.695	0.17993	N	.	.	.	-3.17	0.64363	D	0.188	0.20528	-1.0174	0.24560	T	0.102	0.37669	T	7	0.0032675862	0.00056	T	.	.	.	0.057	0.16321	0.428	0.47515	0.156986980423	0.15292	0.031591400297448835	0.03108	0.0177108750862	0.01731	0.429879635572	0.29191	T	0.028676	0.20717	T	-0.474699	0.00795	T	-0.425372	0.30461	T	0.0574022526149461	0.06754	T	0.442056	0.12263	T	0.078201234	0.17795	0.1561364	0.36568	0.078201234	0.17794	0.1561364	0.36567	-2.038	0.03327	T	.	.	0.367	0.57677	A	.	.	1.353112	0.17613	13.27	0.97145696462405118	0.32564	0.01832	0.05685	N	AEFBI	0.026340	0.01961	N	-0.405049778883976	0.25291	1.371857	-0.643069018172606	0.18391	0.9822884	0.763362079681197	0.23547	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	0.468	0.468	0.15943	0.305000	0.19006	0.063000	0.14158	0.469000	0.21855	0.405000	0.26210	0.003000	0.18671	0.351000	0.25682	.	.	.	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.015152	0.05	3738.43	34	chr3	73062596	.	C	T	3738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=1051;ExcessHet=0;FS=2.023;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.383;SOR=0.822	GT:AD:DP:GQ:PL	0/1:137,133:270:99:3750,0,3692	9	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	21306.0	161	chr3	75730451	.	T	G	21306.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.248;DP=1190;ExcessHet=22.563;FS=6.109;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.37;MQRankSum=-6.108;QD=18.26;ReadPosRankSum=1.56;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,13:89:99:0|1:75730450_C_T:317,0,3132:75730450	0	0	10	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3032.01	154	chr3	75736884	.	G	GA	3032.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.024;DP=1489;ExcessHet=22.563;FS=2.546;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.59;MQRankSum=-6.777;QD=2.12;ReadPosRankSum=0.738;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:135,13:148:99:.:.:103,0,5630:.	0	0	10	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11377.0	152	chr3	75736891	.	G	A	11377.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.179;DP=1494;ExcessHet=22.563;FS=2.868;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.49;MQRankSum=-8.968;QD=7.73;ReadPosRankSum=0.917;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,13:154:99:0|1:75736891_G_A:101,0,5846:75736891	0	0	10	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18634.0	209	chr3	75737092	.	C	T	18634.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.903;DP=1554;ExcessHet=22.563;FS=3.439;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.93;MQRankSum=-7.091;QD=12.08;ReadPosRankSum=1.29;SOR=0.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,13:149:99:0|1:75737092_C_T:136,0,5658:75737092	0	0	10	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18621.0	209	chr3	75737094	.	T	A	18621.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.506;DP=1548;ExcessHet=22.563;FS=4.367;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.04;MQRankSum=-7.138;QD=12.06;ReadPosRankSum=1.29;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,13:151:99:0|1:75737092_C_T:130,0,5755:75737092	0	0	10	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	17689.0	206	chr3	75737105	.	T	A	17689.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.706;DP=1528;ExcessHet=22.563;FS=6.432;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.66;MQRankSum=-8.798;QD=11.61;ReadPosRankSum=0.99;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,14:151:99:0|1:75737092_C_T:175,0,5710:75737092	0	0	10	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	15026.0	179	chr3	75737127	.	A	C	15026.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.995;DP=1458;ExcessHet=22.563;FS=6.735;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.36;MQRankSum=-9.527;QD=10.36;ReadPosRankSum=0.724;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,13:162:98:0|1:75737092_C_T:98,0,5939:75737092	0	0	10	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29055.0	242	chr3	75737519	.	G	A	29055.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.23;DP=1778;ExcessHet=22.563;FS=3.187;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.52;MQRankSum=-6.977;QD=17.01;ReadPosRankSum=0.822;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,24:145:99:.:.:599,0,4800:.	0	0	10	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	33226.0	257	chr3	75737590	.	A	G	33226.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.639;DP=2000;ExcessHet=22.563;FS=0.523;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.83;MQRankSum=-11.54;QD=16.75;ReadPosRankSum=1.09;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,33:184:99:0|1:75737590_A_G:927,0,6241:75737590	0	0	10	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36674.0	275	chr3	75737608	.	T	C	36674.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.136;DP=2142;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.69;MQRankSum=-12.91;QD=17.15;ReadPosRankSum=0.045;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,37:208:99:0|1:75737590_A_G:1039,0,7069:75737590	0	0	10	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	37943.0	274	chr3	75737622	.	T	A	37943.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.327;DP=2188;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.99;MQRankSum=-12.64;QD=17.41;ReadPosRankSum=-0.408;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,37:217:99:0|1:75737590_A_G:1012,0,7447:75737590	0	0	10	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36785.0	278	chr3	75737651	.	G	A	36785.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.29;DP=2144;ExcessHet=22.563;FS=1.096;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.76;MQRankSum=-11.17;QD=17.26;ReadPosRankSum=-0.326;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,37:215:99:0|1:75737590_A_G:1018,0,7363:75737590	0	0	10	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	34235.0	265	chr3	75737676	.	A	T	34235.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.48;DP=2005;ExcessHet=22.563;FS=1.748;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.4;MQRankSum=-9.806;QD=17.19;ReadPosRankSum=-0.156;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,34:190:99:0|1:75737590_A_G:958,0,6448:75737590	0	0	10	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	17386.0	242	chr3	75737840	.	C	T	17386.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.182;DP=1956;ExcessHet=22.563;FS=9.369;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.03;MQRankSum=-4.376;QD=9.13;ReadPosRankSum=0.509;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,21:201:99:0|1:75737814_C_T:337,0,7078:75737814	0	0	10	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2132.41	109	chr3	98133456	.	ACCCC	A	2132.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.678;DP=871;ExcessHet=0.7463;FS=369.503;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=1.63;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,32:109:99:0|1:98133456_ACCCC_A:780,0,2832:98133456	7	0	3	0
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2124.47	85	chr3	98133460	.	C	CGGGG	2124.47	.	AC=3;AF=0.5;AN=6;DP=740;ExcessHet=0.7463;FS=363.85;InbreedingCoeff=-0.4815;MLEAC=5;MLEAF=0.833;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=2.58;SOR=9.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,32:109:99:0|1:98133456_ACCCC_A:780,0,2832:98133456	0	0	3	7
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	771.43	44	chr3	98133463	.	C	G	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.71;DP=587;ExcessHet=0;FS=120.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.14;ReadPosRankSum=3.79;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,32:108:99:0|1:98133456_ACCCC_A:783,0,2790:98133456	9	0	1	0
chr3	98283014	98283014	A	G	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.A127G:p.T43A	.	419	1042	58	3	0	64	0.0297952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0065	0.00539137	0.0065	0.0017	0.0061	0.0001	0.0008	0.0094	0.0099	0.0037	0.0063518	982	154602	rs138288586	0.0078	0.0078	0.0076	0.0080	0.0499	0.0077	0.0076	0.0452	0.0434	0.0020	0.0086	0.0137	7.56e-05	0.0012	0.0499	0.0083	0.0099	0.0047	0.0065	0.0065	0.0068	0.0062	0.0109	0.0062	0.0060	0.0095	0.0090	0.0021	0.0033	0.0109	0.0130	0.0004	0.0010	0.0442	0.0087	0.0175	0.0060	0.005	0.63226	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.000995	0.40743	U	0.000000	1	0.08975	N	1.3	0.32576	L	6.94	0.01376	T	-4.77	0.80851	D	0.348	0.38950	-0.9212	0.45390	T	0.003	0.00864	T	10	0.004910052	0.00105	T	.	.	.	0.085	0.24743	.	.	0.483082108137	0.47938	0.1894909077158087	0.18867	0.128535529483	0.14494	0.273199915886	0.06563	T	0.010184	0.09221	T	-0.537174	0.00348	T	-0.531416	0.19145	T	0.0974352649828437	0.12072	T	0.665633	0.27494	T	0.677092	0.76812	0.5844975	0.75907	0.677092	0.76814	0.5844975	0.75908	-6.724	0.51991	T	.	.	0.144	0.31832	B	.;.	.;.	3.611633	0.51069	23.0	0.98460605800049295	0.41734	0.17022	0.19654	N	AEFDGI	0.077694	0.15659	N	-0.0972181323188493	0.37514	2.183617	-0.331202449396319	0.27097	1.501209	0.00147991741085891	0.08567	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	3.2	0.35826	5.548000	0.66963	.	.	0.665000	0.62972	0.908000	0.31627	0.670000	0.26062	0.013000	0.09966	1.0:0.0:0.0:0.0	9.723	0.39484	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053877	0.045455	0.063859	0.058480	0.100000	0.086207	0.033537	0.015152	0.05	2548.43	141	chr3	98283014	.	A	G	2548.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.318;DP=755;ExcessHet=0;FS=3.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.188;SOR=0.756	GT:AD:DP:GQ:PL	0/1:144,111:255:99:2560,0,3713	9	0	1	0
chr3	98283683	98283683	C	T	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.C796T:p.R266C	.	436	1066	18	2	0	22	0.0102136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0066	0.00379393	0.0063	0.0011	0.0067	0	0.0044	0.0077	0.0155	0.0072	0.0063389	980	154602	rs17787561	0.0073	0.0073	0.0072	0.0074	0.0113	0.0072	0.0072	0.0091	0.0083	0.0013	0.0078	0.0082	0	0.0069	0.0113	0.0077	0.0075	0.0074	0.0059	0.0059	0.0058	0.0060	0.0097	0.0056	0.0054	0.0084	0.0080	0.0015	0.0011	0.0097	0.0107	0.0002	0.0049	0.0136	0.0079	0.0114	0.0056	0.067	0.35918	T	0.053	0.47336	T	0.059	0.23051	B	0.024	0.20255	B	0.159738	0.17701	U	0.410613	1	0.08975	N	2.42	0.70002	M	1.29	0.35775	T	-3.22	0.64939	D	0.067	0.03956	-1.0152	0.25272	T	0.055	0.23186	T	10	0.008219928	0.00187	T	.	.	.	0.033	0.08068	.	.	0.366277470483	0.36239	0.10926526766360327	0.10855	0.0203041429472	0.01996	0.2047714293	0.00609	T	0.006162	0.05598	T	-0.589192	0.00170	T	-0.607433	0.12195	T	0.00985053846370298	0.00130	T	0.455554	0.13039	T	0.14295922	0.32877	0.11448131	0.27634	0.14295922	0.32877	0.11448131	0.27633	-7.856	0.60085	D	.	.	0.118	0.30713	B	.;.	.;.	1.805741	0.22947	15.83	0.75477644448646841	0.11090	0.02887	0.07671	N	AEFI	0.049293	0.08500	N	-1.11984821568533	0.06291	0.2891762	-1.25655528946903	0.05034	0.2389404	1.39399034786534E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.03	-1.07	0.09459	-0.032000	0.12217	.	.	-2.099000	0.00395	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1797:0.3604:0.0:0.4599	3.522	0.07302	756	0.51065	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	0.010574	0.025253	0.010870	0.005848	0.000000	0.017241	0.006098	0.007576	0.05	1617.43	112	chr3	98283683	.	C	T	1617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.611;DP=590;ExcessHet=0;FS=0.655;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.203;SOR=0.609	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1629,0,1575	9	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	146.44	142	chr3	99790960	.	T	C	146.44	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.024;DP=1076;ExcessHet=0.2348;FS=125.682;InbreedingCoeff=-0.2316;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=1.85;SOR=7.808	GT:AD:DP:GQ:PL	0/1:87,18:105:5:5,0,1890	4	0	2	4
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	1170.79	50	chr3	100775333	.	T	C	1170.79	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.379;DP=401;ExcessHet=15.1594;FS=290.87;InbreedingCoeff=-0.7983;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=0.5;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,17:41:99:0|1:100775333_T_C:233,0,346:100775333	1	0	9	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	993.31	120	chr3	121697608	.	C	T	993.31	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.669;DP=961;ExcessHet=7.0302;FS=290.798;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.85;SOR=11.255	GT:AD:DP:GQ:PL	0/1:77,58:142:99:295,0,1137	0	0	7	3
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	1586.91	59	chr3	128055734	.	T	C	1586.91	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.356;DP=621;ExcessHet=15.1594;FS=117.441;InbreedingCoeff=-0.8095;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.678;SOR=9.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,16:61:99:0|1:128055734_T_C:282,0,990:128055734	1	0	9	0
chr3	130376650	130376650	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon3:c.G481A:p.G161R,COL6A5:NM_153264:exon3:c.G481A:p.G161R	.	414	1095	12	1	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0398813810751	.	.	0.0002	0.0001	0.0003	0	0	0.0001	0.0037	0.0005	0.0001617	25	154602	rs777760382	0.0001	0.0001	0.0001	0.0002	0.0068	0.0001	0.0001	0.0051	0.0045	5.979e-05	0.0002	0	5.045e-05	5.626e-05	0.0068	7.558e-05	0.0002	0.0005	0.0002	0.0002	8.999e-05	0.0002	0.0012	0.0001	8.717e-05	0.0005	0.0004	9.625e-05	0	0.0002	0	0	9.432e-05	0	0.0001	0	0.0012	0.031	0.45039	D	0.039	0.51112	D	.	.	.	.	.	.	.	.	.	.	0.501094	0.31725	N	.	.	.	-1.74	0.83413	D	-6.67	0.92346	D	0.713	0.71587	0.690	0.93044	D	0.722	0.90455	D	9	0.8898239	0.88321	D	0.039881	0.59059	D	0.582	0.83193	0.716	0.85141	0.704975094451	0.70241	0.42902855019127556	0.42819	0.244522584449	0.26956	0.449179172516	0.31832	T	0.384598	0.74619	T	0.013283	0.53473	T	0.111305	0.77659	D	0.699732840061188	0.40706	D	0.878012	0.59262	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45810	B	.	.	4.538136	0.71308	25.7	0.9969134712643879	0.79977	0.97513	0.75238	D	AEFBI	0.787311	0.71713	D	0.545023087047701	0.69778	5.405776	0.420110695420657	0.62819	4.503933	0.999904969327129	0.45458	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.14	4.25	0.49658	6.215000	0.72150	11.296000	0.92177	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:0.8484:0.1516	14.146	0.64886	413	0.81939	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	2191.43	40	chr3	130376650	.	G	A	2191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=493;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.287;SOR=0.783	GT:AD:DP:GQ:PL	0/1:61,83:144:99:2203,0,1361	9	0	1	0
chr3	130379796	130379796	C	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon4:c.C1046T:p.P349L,COL6A5:NM_153264:exon4:c.C1046T:p.P349L	.	428	1044	47	3	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	.	0.00199681	0.0131	0.0005	0.0049	0	0	0.0039	0.0158	0.0279	0.0021539	333	154602	rs142949552	0.0030	0.0028	0.0023	0.0037	0.0240	0.0029	0.0029	0.0231	0.0227	0.0006	0.0015	0.0040	5.597e-05	0.0002	0.0226	0.0016	0.0043	0.0240	0.0021	0.0021	0.0019	0.0024	0.0204	0.0019	0.0019	0.0171	0.0159	0.0004	0	0.0015	0.0063	0	0.0005	0.0170	0.0021	0.0047	0.0204	0.017	0.51248	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.69	0.82985	D	-3.96	0.73579	D	0.058	0.02964	-0.4461	0.70529	T	0.458	0.78901	T	9	0.005708158	0.00127	T	.	.	.	0.228	0.52768	.	.	.	.	0.41726518107133853	0.41642	0.188780204204	0.21197	0.303890168667	0.10984	T	0.18915	0.54328	T	-0.378357	0.03190	T	-0.297336	0.45005	T	0.0376475582209328	0.03269	T	0.787421	0.42665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	2.481712	0.32005	18.91	0.99593865867800668	0.73748	0.12434	0.17266	N	AEFDBI	0.155089	0.28022	N	-0.088144379818127	0.37910	2.212591	-0.0915332530468588	0.35738	2.071255	0.999450908489858	0.39788	0.742599	0.98188	0	0.588764	0.42986	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	0.554000	0.23113	4.837000	0.45250	0.599000	0.40250	0.000000	0.06391	0.542000	0.25421	0.150000	0.20306	0.163:0.8369:0.0:0.0	12.876	0.57381	402	0.82617	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018072	0.000000	0.031915	0.014019	0.000000	0.050000	0.021429	0.016667	0.05	1935.43	43	chr3	130379796	.	C	T	1935.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.4;DP=493;ExcessHet=0;FS=5.395;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.603;SOR=1.195	GT:AD:DP:GQ:PL	0/1:66,71:137:99:1947,0,1813	9	0	1	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1438.56	46	chr3	130421335	.	G	A	1438.56	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.907;DP=433;ExcessHet=8.3924;FS=407.622;InbreedingCoeff=-0.7391;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=0.501;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,13:49:99:0|1:130421335_G_A:182,0,1104:130421335	3	0	4	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	1438.09	47	chr3	130421337	.	T	C	1438.09	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.036;DP=426;ExcessHet=8.3924;FS=409.477;InbreedingCoeff=-0.7391;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.651;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,13:49:99:0|1:130421335_G_A:182,0,1104:130421335	1	0	6	3
chr3	131382112	131382112	C	G	exonic	NUDT16	.	nonsynonymous SNV	NUDT16:NM_001171905:exon2:c.C67G:p.L23V,NUDT16:NM_001171906:exon2:c.C205G:p.L69V,NUDT16:NM_152395:exon2:c.C205G:p.L69V	.	431	1084	6	1	0	8	0.00367647	.	.	.	708579	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.092	.	0.0078	0.00359425	0.0077	0.0020	0.0042	0	0.0079	0.0111	0.0071	0.0043	0.0075678	1170	154602	rs150437674	0.0100	0.0100	0.0102	0.0098	0.0113	0.0099	0.0098	0.0111	0.0110	0.0016	0.0049	0.0162	2.525e-05	0.0095	0.0031	0.0113	0.0088	0.0041	0.0071	0.0071	0.0076	0.0066	0.0106	0.0068	0.0066	0.0100	0.0097	0.0021	0.0088	0.0058	0.0161	0	0.0087	0.0136	0.0106	0.0052	0.0041	0.074	0.37750	T	0.01	0.69154	D	1.0	0.90584	D	0.997	0.86255	D	0.001074	0.40389	N	0.105878	0.99155	0.44063	D	1.805	0.47535	L	3.12	0.19726	T	-2.23	0.52451	N	0.552	0.57775	-1.1243	0.02076	T	0.058	0.24354	T	10	0.007732898	0.00176	T	.	.	.	0.092	0.26621	.	.	0.261217442401	0.25729	0.7443446148493671	0.74380	1.27310340077	0.82332	0.732468962669	0.71867	T	0.011685	0.10390	T	-0.552145	0.00283	T	-0.554863	0.16861	T	0.0124549675384815	0.00205	T	0.925707	0.74696	D	0.4506067	0.64079	0.1936274	0.42942	0.4506067	0.64080	0.1936274	0.42941	-7.338	0.59920	T	.	.	0.182	0.54646	B	.;.;.	.;.;.	3.910572	0.57021	23.8	0.99655861537948243	0.77631	0.79170	0.39181	D	AEFDGBHCI	0.314781	0.41954	N	0.23238901767712	0.52774	3.449558	0.147035585226228	0.46984	2.935704	0.999999999998535	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	3.63	1.8	0.24069	1.852000	0.38988	3.149000	0.36517	0.524000	0.24156	0.998000	0.41325	1.000000	0.68203	0.966000	0.53164	0.0:0.7748:0.0:0.2252	7.342	0.25817	858	0.34001	.;NUDIX hydrolase domain|NUDIX hydrolase 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	0.005539	0.015152	0.004076	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	1390.43	37	chr3	131382112	.	C	G	1390.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.723;DP=471;ExcessHet=0;FS=2.114;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-1.439;SOR=0.888	GT:AD:DP:GQ:PL	0/1:87,60:147:99:1402,0,2170	9	0	1	0
chr3	131462839	131462839	C	T	exonic	MRPL3	.	nonsynonymous SNV	MRPL3:NM_007208:exon10:c.G931A:p.G311S	Combined oxidative phosphorylation deficiency 9, Autosomal recessive	0	1483	37	2	0	41	0.0136349	.	.	.	361444	MRPL3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.002	0.00314387884353	0.0035	0.00279553	0.0038	0.0012	0.0038	0.0001	0.0006	0.0050	0.0099	0.0031	0.0036093	558	154602	rs148679749	0.0034	0.0034	0.0032	0.0035	0.0113	0.0033	0.0032	0.0091	0.0083	0.0010	0.0031	0.0029	2.526e-05	0.0013	0.0113	0.0036	0.0037	0.0040	0.0031	0.0031	0.0031	0.0031	0.0050	0.0029	0.0028	0.0045	0.0044	0.0008	0	0.0037	0.0029	0	0.0002	0.0136	0.0050	0.0057	0.0037	0.788	0.03642	T	0.735	0.05072	T	0.0	0.09854	B	0.001	0.04355	B	0.909251	0.08565	N	0.961828	1	0.08975	N	-1.15	0.00907	N	1.03	0.40469	T	1.52	0.00719	N	0.083	0.09207	-0.9917	0.32167	T	0.015	0.05946	T	10	0.0067156255	0.00152	T	0.003144	0.06845	T	0.017	0.02790	.	.	0.65303778533	0.65014	0.2228443256438723	0.22199	0.0657605408263	0.07340	0.321589320898	0.13662	T	0.013901	0.11938	T	-0.577776	0.00199	T	-0.598986	0.12897	T	0.00196668566367264	0.00020	T	0.294271	0.05429	T	0.06487237	0.13809	0.037524298	0.03422	0.08629366	0.20052	0.041416664	0.04701	-2.296	0.04533	T	0.046333162862433	0.00630	0.079	0.07412	B	.;.	.;.	0.405654	0.07765	4.453	0.55205899206743336	0.05294	0.02737	0.07411	N	AEFBI	0.075076	0.15067	N	-1.11238720123199	0.06421	0.2955541	-1.20970494867536	0.05753	0.2750065	0.0407881398341368	0.14455	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	-4.62	0.03129	-0.237000	0.09007	1.158000	0.24531	-0.157000	0.11712	0.000000	0.06391	0.064000	0.22093	0.151000	0.20341	0.2997:0.4345:0.0722:0.1935	3.796	0.08254	898	0.25240	.;.	.	.	.	.	.	Likely benign	0	0	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	0.010595	0.010204	0.010870	0.002924	0.050000	0.000000	0.018405	0.011364	0.05	709.43	35	chr3	131462839	.	C	T	709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=392;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-0.158;SOR=1.002	GT:AD:DP:GQ:PL	0/1:51,31:82:99:721,0,1174	9	0	1	0
chr3	132619485	132619485	C	G	exonic	ACAD11	.	nonsynonymous SNV	ACAD11:NM_032169:exon10:c.G1258C:p.V420L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.145422972176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.389e-06	1.368e-06	1.381e-06	1.397e-06	1.813e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.813e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.753	0.03555	T	0.718	0.12491	T	0.004	0.12183	B	0.009	0.14300	B	.	.	.	.	0.999985	0.81001	D	1.05	0.26816	L	-5.16	0.98796	D	-0.43	0.14390	N	0.504	0.53620	0.715	0.93363	D	0.869	0.95647	D	9	0.24896997	0.42202	T	0.145423	0.82761	D	0.429	0.73590	0.621	0.75576	0.849746914196	0.84830	0.5142291416957646	0.51345	0.147862766513	0.16680	.	.	.	0.302782	0.67517	T	0.299908	0.82961	D	0.193021	0.82740	D	0.203781465782972	0.20623	T	0.889011	0.61998	D	0.43031567	0.62772	0.5117404	0.71786	0.43031567	0.62773	0.5117404	0.71786	-4.395	0.29489	T	.	.	0.109	0.29367	B	.;.	.;.	1.998301	0.25390	16.74	0.92238892078561485	0.21617	0.93316	0.57891	D	AEFBI	0.511455	0.54008	D	-0.162857489431731	0.34688	1.983079	0.0711905239419617	0.43107	2.619413	0.999984011997123	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	5.82	0.92740	2.287000	0.43166	1.451000	0.26606	0.599000	0.40250	0.972000	0.34453	0.334000	0.24388	0.998000	0.85391	0.0:1.0:0.0:0.0	18.868	0.92271	845	0.36510	Acyl-CoA dehydrogenase/oxidase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	909.43	34	chr3	132619485	.	C	G	909.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.9;SOR=0.765	GT:AD:DP:GQ:PL	0/1:51,42:93:99:921,0,1125	9	0	1	0
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	278.94	82	chr3	133947398	.	T	C	278.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.818;DP=688;ExcessHet=0.7463;FS=151.401;InbreedingCoeff=-0.2079;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=0.194;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,25:77:99:.:.:154,0,1024:.	7	0	3	0
chr3	140448648	140448648	T	A	exonic	CLSTN2	.	nonsynonymous SNV	CLSTN2:NM_022131:exon6:c.T917A:p.I306N	.	425	1091	6	0	0	6	0.00274223	.	.	.	697859	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.493	0.0978105766652	0.0048	0.00239617	0.0033	0.0016	0.0015	0	0.0014	0.0047	0.0022	0.0024	0.0034282	530	154602	rs41265459	0.0054	0.0054	0.0055	0.0053	0.0063	0.0053	0.0053	0.0062	0.0062	0.0010	0.0014	0.0081	0	0.0016	0.0040	0.0063	0.0039	0.0022	0.0036	0.0036	0.0039	0.0033	0.0057	0.0033	0.0032	0.0052	0.0050	0.0014	0.0033	0.0024	0.0109	0	0.0009	0	0.0057	0.0043	0.0015	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.896	0.63555	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	0.72	0.50976	T	-5.71	0.87457	D	0.914	0.91621	-0.3619	0.73207	T	0.248	0.61751	T	10	0.033489287	0.01527	T	0.097811	0.76836	D	0.493	0.77910	.	.	0.895227171874	0.89419	0.7803292918744039	0.77983	0.966996163592	0.73223	0.712702155113	0.68984	T	0.696357	0.91217	D	-0.172031	0.24929	T	-0.0165804	0.69254	D	0.0299720670178695	0.01985	T	0.979902	0.93196	D	0.8626946	0.88291	0.75548524	0.85550	0.8626946	0.88292	0.75548524	0.85550	-13.688	0.91999	D	.	.	0.726	0.74038	P	.	.	5.029218	0.83633	28.1	0.99418079785669466	0.63645	0.98108	0.79665	D	AEFBI	0.932384	0.92266	D	0.796845758482005	0.85907	8.718929	0.737815365233439	0.85245	8.523132	0.999999984462586	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	8.017000	0.88732	7.846000	0.70742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:0.0:1.0	13.034	0.58269	829	0.39537	.	.	.	.	.	.	Likely benign	0	0	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	0.002018	0.010101	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1485.43	38	chr3	140448648	.	T	A	1485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.342;DP=426;ExcessHet=0;FS=2.508;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.518;SOR=0.47	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1497,0,1174	9	0	1	0
chr3	147396245	147396245	C	G	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001168378:exon3:c.G445C:p.G149R,ZIC4:NM_001168379:exon3:c.G409C:p.G137R,ZIC4:NM_032153:exon3:c.G295C:p.G99R	.	134	1355	33	0	0	33	0.0120306	.	.	.	2113997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.269	.	0.0059	0.00519169	0.0071	0.0017	0.0040	0.0001	0.0157	0.0087	0.0084	0.0065	0.0067787	1048	154602	rs34676558	0.0081	0.0081	0.0080	0.0082	0.0113	0.0080	0.0079	0.0091	0.0083	0.0014	0.0042	0.0109	0	0.0149	0.0113	0.0085	0.0077	0.0068	0.0067	0.0067	0.0066	0.0069	0.0093	0.0064	0.0063	0.0087	0.0085	0.0020	0	0.0048	0.0112	0	0.0142	0	0.0093	0.0061	0.0070	0.007	0.78490	D	0.184	0.37872	T	0.994	0.66517	D	0.923	0.65830	D	0.000258	0.46924	D	0.000000	.	.	.	2.28	0.64929	M	0.97	0.42502	T	-3.96	0.74661	D	0.707	0.76203	-0.8022	0.55015	T	0.147	0.47129	T	10	0.0103960335	0.00232	T	.	.	.	0.269	0.58381	0.628	0.76366	0.799349794875	0.79747	0.6008591114934073	0.60016	1.56576822731	0.88110	0.708737492561	0.68410	T	0.577982	0.86135	D	-0.266311	0.12170	T	-0.145919	0.59604	T	0.0226727302625135	0.00985	T	0.967253	0.88140	D	0.3260748	0.55147	0.40053952	0.64588	0.3260748	0.55147	0.40053952	0.64588	-12.54	0.87381	D	.	.	0.627	0.70621	P	.;.;.;.;.;.	.;.;.;.;.;.	3.880911	0.56402	23.7	0.9988786241018941	0.96281	0.96824	0.71137	D	AEFDBHCI	0.809104	0.73270	D	0.604603678742957	0.73464	5.970528	0.573160142656645	0.73021	5.902948	0.999999943667802	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.98	4.98	0.65679	3.034000	0.49441	2.192000	0.31216	0.599000	0.40250	1.000000	0.71638	0.800000	0.26941	0.990000	0.65344	0.1613:0.7572:0.0:0.0816	7.852	0.28624	921	0.19240	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.025253	0.009511	0.023392	0.000000	0.008621	0.021341	0.003788	0.05	1976.43	33	chr3	147396245	.	C	G	1976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.578;DP=498;ExcessHet=0;FS=1.209;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.661;SOR=0.588	GT:AD:DP:GQ:PL	0/1:85,82:167:99:1988,0,2025	9	0	1	0
chr3	148834543	148834543	A	G	exonic	CPB1	.	nonsynonymous SNV	CPB1:NM_001871:exon3:c.A193G:p.S65G	.	431	1088	3	0	0	3	0.00137678	.	.	.	3198639	CPB1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.107	0.00754813595591	0.0032	0.00199681	0.0036	0.0011	0.0013	0	0.0026	0.0051	0	0.0035	0.0036222	560	154602	rs146504027	0.0043	0.0043	0.0043	0.0043	0.0048	0.0042	0.0041	0.0047	0.0046	0.0007	0.0010	0.0049	2.52e-05	0.0021	0.0009	0.0048	0.0044	0.0038	0.0029	0.0029	0.0032	0.0027	0.0050	0.0027	0.0026	0.0042	0.0040	0.0009	0	0.0022	0.0046	0.0002	0.0016	0	0.0046	0.0028	0.0050	0.331	0.42783	T	0.285	0.37173	T	0.299	0.32525	B	0.028	0.21332	B	0.077851	0.21079	N	0.564881	0.90347	0.27654	N	2.38	0.68558	M	2.53	0.14038	T	-2.15	0.51157	N	0.275	0.31140	-1.0697	0.09479	T	0.028	0.12190	T	10	0.006259382	0.00141	T	0.007548	0.20033	T	0.107	0.30369	.	.	0.502130797271	0.49849	0.6325481484252009	0.63188	0.227667183009	0.25318	0.302994430065	0.10848	T	0.05177	0.28972	T	-0.539895	0.00335	T	-0.54707	0.17607	T	0.0321980288459391	0.02339	T	0.521048	0.17685	T	0.1884533	0.40345	0.11964176	0.28876	0.1884533	0.40344	0.11964176	0.28875	-4.886	0.35577	T	.	.	0.103	0.18372	B	.;.;.;.	.;.;.;.	2.481685	0.32005	18.91	0.99110396250176813	0.52699	0.99328	0.94563	D	AEFI	0.818789	0.73996	D	-0.115588688387535	0.36712	2.125875	-0.00132011944924051	0.39658	2.354624	0.986795640517507	0.31127	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	6.344000	0.72941	8.123000	0.76630	0.677000	0.82338	1.000000	0.71638	0.988000	0.31051	0.128000	0.19490	1.0:0.0:0.0:0.0	14.734	0.69016	505	0.75648	Carboxypeptidase, activation peptide;Carboxypeptidase, activation peptide;Carboxypeptidase, activation peptide;Carboxypeptidase, activation peptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.008772	0.000000	0.000000	0.006098	0.003788	0.05	515.43	34	chr3	148834543	.	A	G	515.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.879;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=-0.538;SOR=0.643	GT:AD:DP:GQ:PL	0/1:37,26:63:99:527,0,971	9	0	1	0
chr3	154122017	154122017	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T25A:p.F9I,ARHGEF26:NM_001251963:exon2:c.T25A:p.F9I,ARHGEF26:NM_015595:exon2:c.T25A:p.F9I	.	427	1033	57	5	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0067	0.00738818	0.0098	0.0017	0.0036	0	0.0062	0.0101	0.0129	0.0262	0.0091267	1411	154602	rs139430962	0.0097	0.0097	0.0091	0.0104	0.0245	0.0096	0.0095	0.0237	0.0233	0.0012	0.0043	0.0010	5.11e-05	0.0066	0.0212	0.0097	0.0089	0.0245	0.0067	0.0067	0.0064	0.0070	0.0278	0.0064	0.0062	0.0240	0.0225	0.0013	0.0011	0.0061	0.0020	0.0002	0.0045	0.0136	0.0098	0.0076	0.0278	0.0	0.91255	D	0.096	0.52060	T	0.001	0.07471	B	0.001	0.04355	B	0.000190	0.48115	D	0.140928	0.558637	0.32194	D	1.78	0.46185	L	0.23	0.64630	T	-0.91	0.30762	N	0.233	0.38438	-1.0122	0.26228	T	0.071	0.28871	T	10	0.003982842	0.00077	T	.	.	.	0.024	0.04979	.	.	0.459818148978	0.45609	0.13923310431093144	0.13846	0.121683234402	0.13713	0.574688792229	0.49339	T	0.002676	0.02065	T	-0.420583	0.01696	T	-0.359329	0.38131	T	0.0941204471095192	0.11697	T	0.592841	0.22456	T	0.54745376	0.69814	0.28995273	0.55016	0.54745376	0.69815	0.28995273	0.55015	-3.511	0.16600	T	.	.	0.076	0.37159	B	.;.;.;.	.;.;.;.	2.139647	0.27245	17.40	0.98046948600260686	0.37835	0.71905	0.35217	D	AEFDGBCIJ	0.150255	0.27451	N	-0.463189237740392	0.23295	1.249935	-0.320018905430494	0.27452	1.523414	0.999999999235656	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	4.79	2.38	0.28415	0.882000	0.27824	-0.375000	0.09580	0.665000	0.62972	0.997000	0.40164	0.000000	0.08366	0.967000	0.53440	0.1533:0.0862:0.0:0.7605	5.602	0.16638	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.010101	0.010870	0.011696	0.000000	0.025862	0.039634	0.034091	0.15	6007.45	43	chr3	154122017	.	T	A	6007.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.523;DP=850;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.591;SOR=0.748	GT:AD:DP:GQ:PL	0/1:82,78:160:99:1968,0,2084	7	0	3	0
chr3	158669561	158669561	T	C	exonic	LXN	.	nonsynonymous SNV	LXN:NM_020169:exon3:c.A242G:p.Q81R	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0094615251403	0.0006	.	0.0005	0	0	0	0	0.0008	0.0044	0	0.0004916	76	154602	rs142211639	0.0005	0.0005	0.0005	0.0006	0.0016	0.0005	0.0005	0.0008	0.0006	0.0001	0.0004	3.827e-05	0	7.488e-05	0.0016	0.0006	0.0003	0.0002	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	4.823e-05	0	0.0005	0	0	0	0.0032	0.0007	0	0	0.09	0.31987	T	0.13	0.34716	T	0.483	0.36807	P	0.255	0.39216	B	0.001944	0.37596	N	0.260252	0.998984	0.45816	D	2.38	0.68558	M	0.85	0.47130	T	-1.81	0.42575	N	0.194	0.21319	-0.9117	0.46645	T	0.155	0.48653	T	10	0.061083227	0.07605	T	0.009462	0.24786	T	0.118	0.32913	.	.	0.658768918763	0.65591	0.22068530286071483	0.21983	0.305303193982	0.32830	0.335538446903	0.15769	T	0.173783	0.52278	T	-0.43119	0.01458	T	-0.473934	0.25093	T	0.0480458527253494	0.05151	T	0.645735	0.25721	T	0.17611821	0.38507	0.11139329	0.26869	0.17611821	0.38507	0.11139329	0.26868	-4.35	0.28872	T	.	.	0.078	0.07036	B	.	.	3.014880	0.40329	21.1	0.99249287566890521	0.56825	0.74769	0.36585	D	AEFDBCI	0.302445	0.41069	N	0.174477712140037	0.49977	3.192219	0.236571707318588	0.51888	3.367669	0.999977752200831	0.50053	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.04	5.04	0.67293	2.495000	0.44997	7.920000	0.74475	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.1503:0.8496	11.470	0.49508	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	372.43	34	chr3	158669561	.	T	C	372.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.803;DP=329;ExcessHet=0;FS=2.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-0.606;SOR=0.307	GT:AD:DP:GQ:PL	0/1:22,20:42:99:384,0,642	9	0	1	0
chr3	179604915	179604915	A	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon1:c.A100C:p.T34P,NDUFB5:NM_001199958:exon1:c.A100C:p.T34P,NDUFB5:NM_002492:exon1:c.A100C:p.T34P	.	427	1059	36	0	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0075	0.00479233	0.0103	0.0011	0.0075	0	0.0215	0.0136	0.0184	0.0048	0.0086545	1338	154602	rs35399127	0.0092	0.0092	0.0093	0.0091	0.0415	0.0091	0.0090	0.0372	0.0355	0.0028	0.0066	0.0255	5.081e-05	0.0176	0.0415	0.0092	0.0105	0.0041	0.0080	0.0080	0.0073	0.0087	0.0099	0.0076	0.0075	0.0090	0.0088	0.0017	0.0044	0.0099	0.0234	0	0.0199	0.0408	0.0096	0.0105	0.0025	0.079	0.55530	T	0.136	0.44702	T	0.994	0.66517	D	0.925	0.65999	D	0.017428	0.27726	N	0.392684	0.999622	0.20843	N	2.74	0.80084	M	0.88	0.53731	T	-1.85	0.45769	N	0.353	0.56231	-0.9317	0.43889	T	0.145	0.46859	T	10	0.009079367	0.00205	T	.	.	.	0.202	0.48754	.	.	0.534814951121	0.53131	0.7674110700333394	0.76690	0.646346701716	0.58049	0.545248329639	0.45187	T	0.081848	0.36692	T	-0.35028	0.04709	T	-0.266534	0.48170	T	0.0529844322233862	0.06016	T	0.70273	0.32446	T	0.33476305	0.55858	0.3759712	0.62729	0.33476305	0.55858	0.3759712	0.62729	-2.545	0.10887	T	.	.	0.083	0.15160	B	.;.;.;.	.;.;.;.	3.385467	0.46848	22.4	0.99351467137641836	0.60615	0.02986	0.07840	N	ALL	0.174802	0.30195	N	0.084213362616481	0.45728	2.824432	0.0279185460009141	0.41016	2.457187	0.999999999957909	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.75	2.03	0.25714	0.473000	0.21843	0.748000	0.21214	-0.053000	0.16966	0.458000	0.26628	0.000000	0.08366	0.993000	0.69303	0.5101:0.323:0.1668:0.0	4.583	0.11663	698	0.58074	.;.;.;.	.	.	.	.	rs35399127	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.036364	0.015306	0.051630	0.061404	0.100000	0.043103	0.009202	0.015267	0.05	475.43	33	chr3	179604915	.	A	C	475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=374;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.91;SOR=1.051	GT:AD:DP:GQ:PL	0/1:36,21:57:99:487,0,854	9	0	1	0
chr3	183842385	183842385	C	T	exonic	PARL	.	nonsynonymous SNV	PARL:NM_001324436:exon6:c.G670A:p.A224T,PARL:NM_001324438:exon6:c.G670A:p.A224T,PARL:NM_018622:exon6:c.G670A:p.A224T	.	463	1056	3	0	0	3	0.00141844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0104597737322	7.7e-05	0.000798722	0.0002	0	0	0	0	7.492e-05	0	0.0014	0.000207	32	154602	rs141197365	0.0001	0.0001	7.355e-05	0.0002	0.0014	9.945e-05	9.353e-05	0.0012	0.0011	2.989e-05	0	0	0	0	0.0009	3.329e-05	9.94e-05	0.0014	6.566e-05	6.562e-05	2.57e-05	0.0001	0.0015	3.514e-05	2.615e-05	0.0007	0.0005	0	0	0	0	0	0	0	2.939e-05	0.0005	0.0015	0.009	0.57480	D	0.202	0.41405	T	0.417	0.35244	B	0.348	0.42747	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	2.46	0.14907	T	-3.03	0.62747	D	0.759	0.75742	-1.1147	0.02696	T	0.074	0.29834	T	10	0.038560808	0.02283	T	0.01046	0.27023	T	0.157	0.40909	.	.	0.791909632029	0.78998	0.7633246945798007	0.76280	0.443894212982	0.44312	0.775586724281	0.78262	T	0.097965	0.40131	T	-0.266188	0.12185	T	-0.195671	0.55057	T	0.176796166674185	0.19031	T	0.955404	0.93912	D	0.5626092	0.70654	0.5523235	0.74112	0.5626092	0.70655	0.5523235	0.74113	-10.838	0.78762	D	.	.	0.410	0.61306	A	.;.;.;.	.;.;.;.	4.630766	0.73628	26.0	0.99522985631083893	0.69346	0.98147	0.80004	D	AEFBI	0.618740	0.60444	D	0.34576785446088	0.58516	4.024368	0.42534571130758	0.63148	4.542946	0.999999996339948	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	6.060000	0.70773	7.650000	0.63651	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.363	0.94435	572	0.70300	.;Peptidase S54, rhomboid domain;Peptidase S54, rhomboid domain;Peptidase S54, rhomboid domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1506.43	34	chr3	183842385	.	C	T	1506.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.714;DP=489;ExcessHet=0;FS=2.734;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=-1.733;SOR=0.915	GT:AD:DP:GQ:PL	0/1:104,69:173:99:1518,0,2456	9	0	1	0
chr3	184056279	184056279	G	A	exonic	HTR3C	.	nonsynonymous SNV	HTR3C:NM_130770:exon4:c.G382A:p.V128M	.	421	1096	4	1	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0117035893703	7.7e-05	0.000599042	0.0003	0	0	0	0	0.0002	0.0011	0.0013	0.0002393	37	154602	rs142791028	0.0002	0.0002	0.0001	0.0003	0.0013	0.0002	0.0002	0.0011	0.0011	8.984e-05	0	0.0010	0	0	0.0009	0.0001	0.0002	0.0013	8.536e-05	8.53e-05	5.14e-05	0.0001	0.0010	4.954e-05	3.96e-05	0.0004	0.0003	4.811e-05	0	0	0	0	0	0	7.35e-05	0.0005	0.0010	0.237	0.17881	T	0.235	0.24767	T	0.075	0.24198	B	0.035	0.22741	B	0.262280	0.03717	N	1.553000	1	0.08975	N	1.14	0.29013	L	-1.21	0.78645	T	-0.29	0.11728	N	0.045	0.01740	-0.7261	0.59159	T	0.299	0.66998	T	10	0.009628385	0.00217	T	0.011704	0.29585	T	0.253	0.56294	.	.	0.241078983079	0.23725	0.032318001388836365	0.03179	0.0527717303981	0.05814	0.251480221748	0.03926	T	0.031525	0.22080	T	-0.551015	0.00288	T	-0.604804	0.12410	T	0.0491406809866012	0.05349	T	0.0343966	0.00231	T	0.040184326	0.05690	0.050479844	0.07932	0.040184326	0.05689	0.050479844	0.07932	-6.342	0.49055	T	.	.	0.077	0.06479	B	.	.	-1.189384	0.00542	0.013	0.71730633082412976	0.09729	0.00117	0.00738	N	AEFBI	0.024336	0.01490	N	-2.27265283191488	0.00053	0.002252872	-2.39333790520008	0.00041	0.001787295	0.999999641868984	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.77	-9.53	0.00484	-3.552000	0.00484	-9.949000	0.00757	-5.783000	0.00007	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1972:0.0697:0.5854:0.1477	9.050	0.35534	310	0.87484	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1824.43	36	chr3	184056279	.	G	A	1824.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.494;DP=477;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.678;SOR=0.624	GT:AD:DP:GQ:PL	0/1:88,75:163:99:1836,0,2241	9	0	1	0
chr3	184386125	184386125	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon15:c.C1898T:p.T633I,CHRD:NM_001304474:exon15:c.C788T:p.T263I,CHRD:NM_003741:exon15:c.C1898T:p.T633I,CHRD:NM_001304473:exon16:c.C788T:p.T263I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.1513289201	0.0002	0.000199681	0.0005	0	0	0	0	0.0007	0	0.0007	0.0004334	67	154602	rs201020244	0.0003	0.0003	0.0003	0.0004	0.0036	0.0003	0.0003	0.0024	0.0021	0.0001	4.472e-05	0.0075	0	0	0.0036	0.0002	0.0008	0.0007	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0001	0.0001	2.406e-05	0	0.0003	0.0063	0	0	0	0.0002	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.1	0.87590	M	0.04	0.62051	T	-4.13	0.76740	D	0.85	0.86511	0.131	0.84720	D	0.489	0.80589	T	10	0.07158142	0.10570	T	0.151329	0.83290	D	0.535	0.80486	.	.	0.935453229892	0.93478	0.8369518883847742	0.83655	1.06764733379	0.76684	0.660112440586	0.61425	T	0.613023	0.87763	D	0.0339593	0.56250	T	0.186849	0.82388	D	0.157587248460174	0.17691	T	0.838216	0.51127	T	0.737283	0.80137	0.68820965	0.81660	0.737283	0.80138	0.68820965	0.81661	-10.12	0.76761	D	.	.	0.701	0.81422	P	.;.;.	.;.;.	4.606399	0.73013	25.9	0.99897675180875001	0.97048	0.98354	0.81929	D	AEFDBI	0.931770	0.92110	D	0.739730401711752	0.82237	7.712799	0.634819933129521	0.77486	6.688363	0.999999894441143	0.74766	0.62174	0.39705	0	0.59043	0.45803	0	0.491614	0.08109	1	0.620976	0.48614	0	.	.	4.68	4.68	0.58319	5.394000	0.66031	5.912000	0.51036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	16.576	0.84499	906	0.23090	CHRD|CHRD|CHRD;CHRD|CHRD|CHRD;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.05	857.43	35	chr3	184386125	.	C	T	857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.769;DP=407;ExcessHet=0;FS=0.857;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.255;SOR=0.717	GT:AD:DP:GQ:PL	0/1:40,38:78:99:869,0,922	9	0	1	0
chr3	190408391	190408391	A	G	exonic	CLDN16	.	nonsynonymous SNV	CLDN16:NM_006580:exon4:c.A460G:p.I154V,CLDN16:NM_001378493:exon7:c.A460G:p.I154V,CLDN16:NM_001378492:exon8:c.A460G:p.I154V	Hypomagnesemia 3, renal, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1982355	Primary_hypomagnesemia|not_provided	MONDO:MONDO:0009550,MedGen:C0268448,OMIM:248250,Orphanet:31043|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0226285287078	.	.	3.295e-05	0	0	0	0	0	0.0022	0.0001	2.59e-05	4	154602	rs769190460	8.209e-06	8.209e-06	0	1.65e-05	9.275e-05	4.38e-06	3.46e-06	4.579e-05	3.272e-05	0	0	0	0	0	0	8.993e-07	4.967e-05	9.275e-05	6.574e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.256	0.16793	T	0.674	0.06225	T	0.022	0.18677	B	0.012	0.16012	B	0.118861	0.19098	N	0.558774	1	0.81001	D	0	0.06538	N	-2.44	0.88767	D	-0.14	0.09135	N	0.188	0.20528	-0.6763	0.61543	T	0.389	0.74394	T	10	0.16513434	0.30874	T	0.022629	0.45536	T	0.188	0.46444	0.572	0.69564	0.80499038676	0.80316	0.15152466145770863	0.15074	0.0907328880104	0.10238	0.394098341465	0.24246	T	0.319604	0.69087	T	-0.16631	0.25795	T	-0.274015	0.47414	T	0.0256204936894849	0.01355	T	0.611839	0.23263	T	0.036682893	0.04560	0.052441884	0.08640	0.036682893	0.04559	0.052441884	0.08639	-3.13	0.11644	T	.	.	0.094	0.14614	B	.	.	0.347974	0.07210	3.805	0.80926905075932443	0.13435	0.50382	0.28650	D	AEFI	0.079843	0.16134	N	-0.670824939541781	0.16855	0.8624793	-0.491905790235894	0.22376	1.215033	1.42099185885195E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	0.812	0.17886	1.383000	0.33992	2.267000	0.31803	-0.534000	0.04951	1.000000	0.71638	0.999000	0.35428	0.714000	0.34579	0.5618:0.0:0.4382:0.0	9.762	0.39702	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1055.43	34	chr3	190408391	.	A	G	1055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.01;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.959;SOR=0.685	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1067,0,1620	9	0	1	0
chr3	195779374	195779374	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206T:p.S4069I	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00299521	0.0003	0.0015	0	0.0119	0	0.0002	0	0	0.0184801	481	26028	rs150394536	0.0009	0.0027	0.0008	0.0009	0.0072	0.0008	0.0008	0.0061	0.0057	0.0004	0.0022	0.0025	0.0072	0.0010	0	0.0005	0.0013	0.0019	0.0003	0.0061	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0009	0	0.0006	0	0.0004	0	0.0011	0.002	0.72154	D	0.056	0.46862	T	.	.	.	.	.	.	.	.	.	.	0.997681	0.58761	P	.	.	.	0.95	0.51474	T	-0.92	0.24676	N	0.054	0.03841	-0.9961	0.31001	T	0.000	0.00011	T	6	0.0044411123	0.00091	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.003929468286863758	0.00367	.	.	0.550907731056	0.45985	T	.	.	.	-0.721069	0.00027	T	-0.664722	0.07951	T	0.00241374731233886	0.00025	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26855	B	.;.	.;.	1.302655	0.17048	12.93	0.9065680457689167	0.19908	0.00254	0.01397	N	AEFBI	0.066007	0.12904	N	-1.23915372028269	0.04444	0.2005883	-1.34796285310444	0.03830	0.1794608	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	rs150394536	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.226733	0.414474	0.162338	0.192857	0.500000	0.192308	0.260417	0.166667	0.1875	1008.88	21	chr3	195779374	.	C	A	1008.88	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-3.165;DP=1672;ExcessHet=0;FS=0;InbreedingCoeff=0.5404;MLEAC=3;MLEAF=0.188;MQ=58.32;MQRankSum=-12.35;QD=4.35;ReadPosRankSum=4.14;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,16:211:85:0|1:195779356_C_G:85,0,8105:195779356	6	1	1	2
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.242585	0.405405	0.195035	0.195652	0.416667	0.220000	0.294118	0.169014	0.1875	991.7	23	chr3	195779396	.	C	T	991.7	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-2.859;DP=1661;ExcessHet=0.9691;FS=0.824;InbreedingCoeff=0.0254;MLEAC=3;MLEAF=0.188;MQ=58.18;MQRankSum=-12.3;QD=2.24;ReadPosRankSum=2.41;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,16:209:91:0|1:195779356_C_G:91,0,7991:195779356	5	0	3	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	10065.1	198	chr3	195781628	.	C	*	10065.1	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.47;DP=2902;ExcessHet=0.3131;FS=1.185;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=56.37;MQRankSum=1.27;QD=4.25;ReadPosRankSum=1.56;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:240,162:461:99:.:.:6071,0,9268:.	5	3	2	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	11362.9	351	chr3	195782558	.	A	*	11362.9	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.593;DP=4385;ExcessHet=0.0197;FS=0.624;InbreedingCoeff=0.4872;MLEAC=4;MLEAF=0.222;MQ=56.02;MQRankSum=-7.929;QD=6.56;ReadPosRankSum=2.02;SOR=0.742	GT:AD:DP:GQ:PL	0/1:200,221:560:99:4967,0,8840	5	0	4	1
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	4996.18	186	chr3	195782605	.	A	*	4996.18	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.835;DP=4407;ExcessHet=0.0135;FS=1.322;InbreedingCoeff=0.2533;MLEAC=5;MLEAF=0.357;MQ=54.06;MQRankSum=-9.158;QD=4.07;ReadPosRankSum=0.336;SOR=0.814	GT:AD:DP:GQ:PL	0/1:129,221:423:46:2973,0,13645	3	0	4	3
chr3	195782644	195782644	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon8:c.8263+1A>0	.	.	.	776	656	77	2	11	92	0.0581479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	569.11	199	chr3	195782644	.	T	*	569.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.31;DP=4848;ExcessHet=3.2736;FS=0;InbreedingCoeff=-0.3919;MLEAC=5;MLEAF=0.357;MQ=54.14;MQRankSum=-5.761;QD=0.28;ReadPosRankSum=1.18;SOR=0.676	GT:AD:DP:GQ:PL	0/1:356,224:587:99:3765,0,17030	3	0	4	3
chr3	195787234	195787234	G	0	exonic	MUC4	.	.	.	.	800	531	39	11	141	202	0.0543188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	59.2	9	chr3	195787234	.	G	*	59.2	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.645;DP=119;ExcessHet=0.2633;FS=34.42;InbreedingCoeff=-0.1477;MLEAC=1;MLEAF=0.056;MQ=40;MQRankSum=0;QD=2.11;ReadPosRankSum=-1.645;SOR=2.938	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,7:28:99:.:.:236,0,734:.	8	0	1	1
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	779.46	9	chr3	195787238	.	C	*	779.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.49;DP=113;ExcessHet=0.0197;FS=41.047;InbreedingCoeff=0.2487;MLEAC=1;MLEAF=0.071;MQ=37.65;MQRankSum=0.693;QD=14.71;ReadPosRankSum=1.35;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,7:22:81:0|1:195787238_C_*:260,0,399:195787238	6	0	1	3
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	858.23	11	chr3	195787273	.	T	*	858.23	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.271;DP=144;ExcessHet=0.0197;FS=36.841;InbreedingCoeff=0.2358;MLEAC=1;MLEAF=0.071;MQ=38.21;MQRankSum=1.28;QD=12.81;ReadPosRankSum=1.02;SOR=0.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,7:26:99:0|1:195787238_C_*:242,0,651:195787238	6	0	1	3
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1207.13	3	chr3	195787579	.	G	*	1207.13	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.431;DP=745;ExcessHet=0.0952;FS=7.978;InbreedingCoeff=0.3407;MLEAC=4;MLEAF=0.2;MQ=49.95;MQRankSum=0.967;QD=2.23;ReadPosRankSum=-0.967;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,33:198:99:0|1:195787508_T_C:890,0,6786:195787508	7	1	2	0
chr3	195787581	195787581	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	59.43	3	chr3	195787581	.	G	*	59.43	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.967;DP=741;ExcessHet=0.2065;FS=4.68;InbreedingCoeff=0.2001;MLEAC=4;MLEAF=0.2;MQ=34.84;MQRankSum=0.967;QD=0.12;ReadPosRankSum=-0.967;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,33:198:99:0|1:195787508_T_C:890,0,6786:195787508	7	1	2	0
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	1013.42	34	chr3	195787584	.	A	*	1013.42	.	AC=4;AF=0.222;AN=18;DP=772;ExcessHet=0.0197;FS=7.978;InbreedingCoeff=0.4872;MLEAC=4;MLEAF=0.222;MQ=51.31;QD=1.89;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,33:198:99:0|1:195787508_T_C:890,0,6786:195787508	6	1	2	1
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	382.1	14	chr3	195787598	.	GCAT	*	382.1	.	AC=4;AF=0.2;AN=20;DP=738;ExcessHet=0.0135;FS=5.722;InbreedingCoeff=0.5208;MLEAC=4;MLEAF=0.2;MQ=44.27;QD=0.73;SOR=1.169	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,33:198:99:0|1:195787508_T_C:890,0,6786:195787508	7	1	2	0
chr3	196210699	196210699	G	A	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon2:c.C185T:p.P62L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0242188569211	0.0004	.	0.0004	0.0001	0.0002	0	0	0.0007	0	0.0001	0.0003687	57	154602	rs200139256	0.0004	0.0004	0.0004	0.0004	0.0017	0.0004	0.0004	0.0009	0.0007	5.975e-05	0.0003	0	0	1.874e-05	0.0017	0.0005	0.0005	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	7.218e-05	0.0011	6.539e-05	0	0	0	0	0.0006	0.0009	0.0004	0.001	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000119	0.50451	D	0.000000	0.999386	0.46865	D	1.87	0.49600	L	1.36	0.34452	T	-9.08	0.98168	D	0.635	0.64818	-0.6849	0.61146	T	0.215	0.57666	T	10	0.5340236	0.63345	D	0.024219	0.47205	T	0.289	0.60808	.	.	0.214338557667	0.21045	0.7738208668794585	0.77332	0.774179064744	0.64939	0.41771236062	0.27523	T	0.067206	0.33142	T	-0.1006	0.36324	T	-0.0123677	0.69530	D	0.9484983086586	0.62908	D	0.79842	0.44325	T	0.6491264	0.75317	0.69670916	0.82140	0.6491264	0.75318	0.69670916	0.82141	-9.566	0.71269	D	.	.	0.159	0.35098	B	.	.	3.441275	0.47869	22.5	0.99781254747622816	0.86780	0.75675	0.37064	D	AEFDGBHCI	0.347666	0.44206	N	0.428261275889494	0.62980	4.523413	0.305968444890332	0.55890	3.751845	0.999991538212703	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.576033	0.28219	0	0.63947	0.58350	0	.	.	5.07	5.07	0.68106	3.699000	0.54511	3.461000	0.38514	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.335000	0.25317	0.0:0.0:1.0:0.0	13.968	0.63736	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1625.43	33	chr3	196210699	.	G	A	1625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.377;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.189;SOR=0.639	GT:AD:DP:GQ:PL	0/1:46,65:111:99:1637,0,1150	9	0	1	0
chr4	530476	530476	G	C	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001289052:exon9:c.G1903C:p.G635R,PIGG:NM_001345988:exon10:c.G1273C:p.G425R,PIGG:NM_001127178:exon11:c.G2302C:p.G768R,PIGG:NM_001289051:exon11:c.G2035C:p.G679R,PIGG:NM_001345986:exon11:c.G2035C:p.G679R,PIGG:NM_001345987:exon11:c.G2011C:p.G671R,PIGG:NM_001345991:exon11:c.G769C:p.G257R,PIGG:NM_017733:exon11:c.G2278C:p.G760R,PIGG:NM_001345990:exon12:c.G769C:p.G257R,PIGG:NM_001345994:exon12:c.G1204C:p.G402R	Mental retardation, autosomal recessive 53, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	559858	Intellectual_disability,_autosomal_recessive_53	MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.465	0.0303318337821	.	.	4.943e-05	0	0	0	0	8.992e-05	0	0	4.53e-05	7	154602	rs35206248	4.242e-05	4.241e-05	4.085e-05	4.401e-05	0.0002	3.377e-05	3.065e-05	3.978e-05	3.575e-05	0	0	0	0	0	0.0002	5.037e-05	6.624e-05	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.008	0.58626	D	0.009	0.66756	D	1.0	0.90584	D	0.997	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.8	0.81625	M	3.25	0.09915	T	-3.97	0.73684	D	0.979	0.99181	-1.0830	0.06776	T	0.079	0.31344	T	10	0.82128334	0.81331	D	0.030332	0.52661	D	0.465	0.76089	.	.	0.463586170655	0.45986	0.9106100532462555	0.91035	0.763416472857	0.64382	0.739234089851	0.72860	T	0.122299	0.45812	T	0.0811546	0.62175	D	0.0941315	0.76520	D	0.889382123947144	0.54009	D	0.962104	0.85685	D	0.59542865	0.72444	0.60808307	0.77209	0.59542865	0.72445	0.60808307	0.77210	-13.803	0.92560	D	0.7913941974796367	0.86977	0.960	0.89054	P	.;.;.;.	.;.;.;.	4.971477	0.82278	27.7	0.99939804479666761	0.99767	0.99048	0.90464	D	AEFDBI	0.909023	0.86512	D	0.765745833829191	0.83927	8.147096	0.771973233833415	0.87788	9.344139	0.999999999989919	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.917000	0.92339	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.514	0.87663	778	0.48011	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2444.43	33	chr4	530476	.	G	C	2444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.193;DP=578;ExcessHet=0;FS=8.281;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.06;SOR=1.144	GT:AD:DP:GQ:PL	0/1:139,101:240:99:2456,0,3616	9	0	1	0
chr4	1355132	1355132	G	A	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon7:c.G1063A:p.G355R,UVSSA:NM_001317935:exon7:c.G1063A:p.G355R,UVSSA:NM_020894:exon7:c.G1063A:p.G355R	UV-sensitive syndrome 3, Autosomal recessive	0	1499	23	0	0	23	0.00761337	.	.	.	709171	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.378	.	0.0060	0.00399361	0.0043	0.0008	0.0026	0	0.0006	0.0065	0.0046	0.0027	0.0043725	676	154602	rs116741007	0.0075	0.0075	0.0076	0.0075	0.0137	0.0074	0.0074	0.0113	0.0104	0.0009	0.0028	0.0136	0	0.0005	0.0137	0.0088	0.0072	0.0028	0.0048	0.0048	0.0052	0.0044	0.0075	0.0045	0.0044	0.0070	0.0068	0.0013	0	0.0054	0.0138	0	0.0004	0.0136	0.0075	0.0066	0.0019	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.93	0.66466	D	0.000002	0.62929	D	0.099697	1	0.81001	D	.	.	.	1.3	0.35590	T	-5.71	0.87457	D	0.616	0.63289	-0.7958	0.55391	T	0.121	0.42187	T	10	0.0065534115	0.00149	T	.	.	.	0.378	0.69612	0.604	0.73586	0.3571064206	0.35317	0.3409813756949449	0.34011	0.0379371196811	0.04027	0.475162267685	0.35392	T	0.343062	0.71175	T	-0.236494	0.15800	T	-0.108059	0.62766	T	0.0332786131309351	0.02518	T	0.635836	0.24975	T	0.5558062	0.70278	0.48588723	0.70244	0.60932237	0.73193	0.54098153	0.73471	-10.627	0.77573	D	0.6940485124012379	0.77217	0.321	0.54573	B	.;.;.	.;.;.	3.387869	0.46888	22.4	0.99790471125093161	0.87661	0.97876	0.77794	D	AEFDBI	0.481640	0.52285	N	0.408738527634659	0.61901	4.397734	0.283807181351574	0.54595	3.623886	0.999999999994943	0.74766	0.651	0.46895	0	0.694456	0.67091	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.26	5.26	0.73479	5.556000	0.67011	7.281000	0.58022	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	18.848	0.92183	788	0.46569	.;.;.	RP11-1263C18.1	Skin_Sun_Exposed_Lower_leg	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.005051	0.014986	0.035088	0.050000	0.000000	0.009146	0.003788	0.05	1611.43	40	chr4	1355132	.	G	A	1611.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=471;ExcessHet=0;FS=1.346;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.045;SOR=0.68	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1623,0,1591	9	0	1	0
chr4	2946476	2946476	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon11:c.C1571T:p.A524V,NOP14:NM_001291979:exon11:c.C1571T:p.A524V,NOP14:NM_003703:exon11:c.C1571T:p.A524V	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	0.0034	0.00279553	0.0022	0.0101	0.0009	0	0	0.0022	0.0011	6.056e-05	0.0020698	320	154602	rs114205498	0.0012	0.0012	0.0012	0.0011	0.0107	0.0011	0.0011	0.0098	0.0094	0.0107	0.0008	0.0319	5.038e-05	0	0.0019	0.0003	0.0031	3.478e-05	0.0036	0.0036	0.0039	0.0033	0.0095	0.0034	0.0033	0.0087	0.0084	0.0095	0	0.0012	0.0305	0	0	0.0034	0.0003	0.0043	0.0002	0.081	0.35918	T	0.204	0.29740	T	0.443	0.48446	B	0.214	0.38645	B	0.000087	0.51296	D	0.172614	0.999623	0.47904	D	1.7	0.43825	L	1.6	0.28604	T	-0.81	0.22294	N	0.403	0.44857	-1.0688	0.09679	T	0.044	0.18948	T	10	0.007896602	0.00179	T	.	.	.	0.068	0.19811	.	.	0.368183359018	0.36430	0.37775649632714114	0.37690	0.209868010446	0.23458	0.370763391256	0.20941	T	0.00594	0.06037	T	-0.516223	0.00463	T	-0.506903	0.21634	T	0.0135966560271514	0.00251	T	0.847115	0.52772	T	0.07904348	0.18036	0.11064446	0.26682	0.07904348	0.18036	0.11064446	0.26681	-4.915	0.36992	T	.	.	0.116	0.25946	B	.;.;.;.	.;.;.;.	4.116981	0.61501	24.3	0.99143396535461259	0.53600	0.91330	0.53316	D	AEFBCI	0.385540	0.46624	N	0.12012556646507	0.47402	2.966422	0.204290154810728	0.50085	3.204299	0.999822263543115	0.43622	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.47	4.44	0.53164	3.561000	0.53515	9.523000	0.80936	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0826:0.0:0.9174:0.0	14.836	0.69818	620	0.66037	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.006793	0.000000	0.100000	0.000000	0.000000	0.003788	0.05	2142.43	34	chr4	2946476	.	G	A	2142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.866;DP=502;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.386;SOR=0.698	GT:AD:DP:GQ:PL	0/1:95,91:186:99:2154,0,2098	9	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	318.53	59	chr4	3074927	.	G	*	318.53	.	AC=3;AF=0.167;AN=18;BaseQRankSum=0.674;DP=412;ExcessHet=0.2065;FS=1.59;InbreedingCoeff=0.1213;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=-0.126;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,11:48:99:0|1:3074923_AGC_A:340,0,1482:3074923	6	0	3	1
chr4	3074946	3074948	CCG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.121_123del:p.P49del	Huntington disease, Autosomal dominant	77	1081	91	25	248	389	0.0612245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	.	0.0081	0.0093	0	0	0	0.0058	0	0.0092	0.0045084	697	154602	rs780554003	0.0012	0.0052	0.0013	0.0012	0.0323	0.0011	0.0011	0.0302	0.0294	0.0323	0.0023	0.0006	0.0009	0.0002	0.0017	0.0004	0.0023	0.0012	0.0081	0.0078	0.0088	0.0074	0.0293	0.0077	0.0075	0.0278	0.0272	0.0293	0	0.0024	0	0	0	0	0.0002	0.0068	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2730.08	51	chr4	3074945	.	ACCG	A	2730.08	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.05;DP=321;ExcessHet=0.0135;FS=0;InbreedingCoeff=0.3406;MLEAC=1;MLEAF=0.063;MQ=59.82;MQRankSum=0;QD=34.13;ReadPosRankSum=-0.126;SOR=0.636	GT:AD:DP:GQ:PL	1/0:0,16:27:99:1091,427,445	7	0	1	2
chr4	3317300	3317300	C	T	exonic	RGS12	.	nonsynonymous SNV	RGS12:NM_002926:exon2:c.C1130T:p.A377V,RGS12:NM_198229:exon2:c.C1130T:p.A377V	.	418	1098	6	0	0	6	0.0027248	.	.	.	2259688	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0236380966119	0.0003	.	0.0002	0.0010	0.0006	0	0	0.0002	0.0011	0	0.0002523	39	154602	rs148633904	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	0.0006	0.0002	7.557e-05	0	0.0016	0.0001	0.0003	2.319e-05	0.0004	0.0004	0.0003	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	0.0003	0.0006	0	0	0.0034	0.0001	0.0009	0.0002	0.278	0.29959	T	0.269	0.22561	T	0.734	0.42776	P	0.081	0.32951	B	0.000046	0.53742	D	0.127712	0.999997	0.08975	N	2.125	0.59049	M	1.58	0.29085	T	-0.99	0.26200	N	0.062	0.03392	-1.0684	0.09768	T	0.066	0.27330	T	10	0.05054605	0.04802	T	0.023638	0.46609	T	0.075	0.21907	.	.	0.521173705876	0.51762	0.5106530656952983	0.50987	0.182716278974	0.20537	0.446934342384	0.31526	T	0.053552	0.29476	T	-0.459398	0.00992	T	-0.489018	0.23495	T	0.0197136823732203	0.00673	T	0.771723	0.40690	T	0.07327841	0.16363	0.08791097	0.20466	0.07327841	0.16362	0.08791097	0.20465	-5.085	0.37748	T	.	.	0.080	0.16494	B	.;.;.	.;.;.	2.671321	0.34828	19.73	0.99405525927297	0.63028	0.91511	0.53684	D	AEFBI	0.217106	0.34227	N	0.0492173808525283	0.44107	2.690789	0.108420746613855	0.44979	2.769313	0.999991275301803	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	3.845000	0.55590	3.242000	0.36972	0.537000	0.25018	0.986000	0.36153	0.998000	0.33993	0.421000	0.27250	0.0:1.0:0.0:0.0	16.692	0.85183	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	3238.43	70	chr4	3317300	.	C	T	3238.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=875;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.26;SOR=0.681	GT:AD:DP:GQ:PL	0/1:131,121:252:99:3250,0,3233	9	0	1	0
chr4	5576374	5576374	G	C	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon18:c.C2898G:p.S966R,EVC2:NM_147127:exon18:c.C3138G:p.S1046R	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	3	1507	9	3	0	15	0.00495213	.	.	YES	293721	Ellis-van_Creveld_syndrome|not_specified|not_provided|Curry-Hall_syndrome	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.184	.	0.0096	0.00758786	0.0038	0.0286	0.0029	0	0	0.0018	0.0011	0.0006	0.0034346	531	154602	rs73074138	0.0017	0.0017	0.0017	0.0016	0.0246	0.0016	0.0016	0.0232	0.0226	0.0246	0.0053	0.0054	0	5.621e-05	0.0225	0.0008	0.0037	0.0005	0.0080	0.0080	0.0080	0.0080	0.0234	0.0076	0.0075	0.0222	0.0217	0.0234	0	0.0091	0.0040	0	0	0.0306	0.0010	0.0066	0.0004	0.028	0.46129	D	0.011	0.64786	D	0.868	0.47740	P	0.383	0.43945	B	0.019057	0.27344	N	0.380247	1	0.08975	N	2.56	0.74772	M	-0.93	0.75215	T	-1.33	0.34992	N	0.366	0.40765	-0.9114	0.46682	T	0.108	0.39246	T	10	0.0066734254	0.00151	T	.	.	.	0.184	0.45763	0.254	0.19378	0.724018906263	0.72158	0.1543506842950964	0.15356	0.131878474572	0.14862	0.358229696751	0.19127	T	0.053301	0.29406	T	-0.456421	0.01034	T	-0.408121	0.32442	T	0.0475434294205966	0.05062	T	0.736726	0.35329	T	0.12640536	0.29608	0.12154893	0.29326	0.13297808	0.30946	0.096674144	0.22980	-2.975	0.09914	T	.	.	0.196	0.44397	B	.;.	.;.	1.826318	0.23208	15.93	0.99730011272474239	0.82690	0.06278	0.12271	N	AEFDBI	0.095994	0.19386	N	-0.557501546390611	0.20250	1.066071	-0.643842782117504	0.18372	0.9811565	6.56922854957636E-4	0.07551	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.38	-0.219	0.12488	-0.426000	0.07076	-0.449000	0.09111	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.941000	0.48210	0.2348:0.1461:0.6191:0.0	6.138	0.19461	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.021652	0.045455	0.035326	0.023392	0.000000	0.034483	0.006098	0.000000	0.1	3122.12	39	chr4	5576374	.	G	C	3122.12	.	AC=2;AF=0.1;AN=20;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.54;SOR=1.449	GT:AD:DP:GQ:PL	1/1:0,99:99:99:3145,297,0	9	1	0	0
chr4	5628715	5628715	A	G	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon12:c.T1490C:p.M497T,EVC2:NM_147127:exon12:c.T1730C:p.M577T	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	1	1506	12	3	0	18	0.00594059	.	.	.	295120	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.656	.	0.0057	0.00599042	0.0023	0.0152	0.0022	0	0	0.0012	0.0011	0.0004	0.0021798	337	154602	rs113869406	0.0013	0.0013	0.0013	0.0013	0.0226	0.0013	0.0013	0.0194	0.0182	0.0164	0.0037	0.0047	0	5.626e-05	0.0226	0.0007	0.0030	0.0003	0.0053	0.0053	0.0052	0.0054	0.0155	0.0050	0.0049	0.0145	0.0141	0.0155	0	0.0055	0.0040	0	0	0.0240	0.0007	0.0063	0.0008	0.002	0.72154	D	0.017	0.60337	D	0.999	0.77913	D	0.977	0.73820	D	0.000116	0.50451	D	0.142673	0.984555	0.40161	D	2.505	0.72935	M	-1.46	0.80983	T	-3.37	0.68532	D	0.858	0.85449	0.086	0.83911	D	0.454	0.78714	T	10	0.010639936	0.00236	T	.	.	.	0.656	0.87085	.	.	0.840034301016	0.83851	0.3783347696063244	0.37748	0.152517565218	0.17208	0.683719336987	0.64803	T	0.746757	0.93028	D	-0.0670031	0.41805	T	0.143952	0.79801	D	0.0237359276258657	0.01112	T	0.618038	0.24270	T	0.5912612	0.72219	0.68935335	0.81724	0.58076334	0.71651	0.70680547	0.82714	-3.999	0.23789	T	.	.	0.189	0.43448	B	.;.	.;.	3.972208	0.58338	24.0	0.9913075972715637	0.53249	0.94014	0.59854	D	AEFBI	0.557058	0.56684	D	0.610738995802271	0.73852	6.034449	0.576127230319168	0.73233	5.936959	0.999974668323365	0.50053	0.562547	0.31514	0	0.588066	0.40923	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	4.949000	0.63298	5.764000	0.49701	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.000	0.63940	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.021652	0.050505	0.029891	0.032164	0.000000	0.034483	0.006098	0.000000	0.1	4474.12	38	chr4	5628715	.	A	G	4474.12	.	AC=2;AF=0.1;AN=20;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.24;SOR=1.294	GT:AD:DP:GQ:PL	1/1:0,153:153:99:4497,459,0	9	1	0	0
chr4	5990128	5990128	C	T	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364690:exon5:c.G1381A:p.E461K,C4orf50:NM_001364689:exon6:c.G1918A:p.E640K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	9.06e-05	14	154602	rs546035776	0.0005	0.0004	0.0004	0.0005	0.0053	0.0004	0.0004	0.0040	0.0038	0.0047	0.0003	0.0031	0	4.424e-05	0.0053	0.0003	0.0008	4.291e-05	0.0014	0.0014	0.0015	0.0013	0.0040	0.0012	0.0012	0.0035	0.0033	0.0040	0	0.0003	0.0040	0	0	0.0034	0.0003	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013512313	0.00286	T	.	.	.	.	.	.	.	.	.	0.015188941484753827	0.01474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514149	0.16548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27791	B	.	.	-0.029932	0.04080	0.954	0.66303415562787449	0.08019	0.06894	0.12920	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	3.11773320735929E-4	0.06498	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.062806	0.01542	0	0.141903	0.26807	2.74	-2.75	0.05564	-0.744000	0.04945	-4.605000	0.02073	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2809:0.3524:0.3667	4.010	0.09106	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	68.98	4	chr4	5990128	.	C	T	68.98	.	AC=2;AF=0.143;AN=14;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=34.49;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:82,6,0	6	1	0	3
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	2133.02	152	chr4	6862306	.	T	C	2133.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.47;DP=1244;ExcessHet=15.1594;FS=225.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1.2;SOR=11.543	GT:AD:DP:GQ:PL	0/1:95,44:139:99:280,0,2161	1	0	9	0
chr4	8233514	8233514	G	A	splicing	SH3TC1	NM_018986:exon14:c.3282+1G>A;NM_001318480:exon14:c.3054+1G>A	.	.	.	425	1070	26	1	0	28	0.0129151	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00239617	0.0057	0.0009	0.0057	0	0.0011	0.0066	0.0048	0.0107	0.0052005	804	154602	rs62286463	0.0060	0.0060	0.0059	0.0061	0.0153	0.0059	0.0059	0.0126	0.0116	0.0014	0.0043	0.0150	0	0.0014	0.0153	0.0059	0.0078	0.0108	0.0040	0.0040	0.0041	0.0039	0.0108	0.0037	0.0036	0.0084	0.0076	0.0008	0.0143	0.0031	0.0121	0	0.0008	0.0136	0.0059	0.0057	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0158123	0.49447	T	0.212472	0.83792	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.165318	0.86564	28.9	0.99380838904050006	0.61891	0.98041	0.79102	D	AEFGBCI	.	.	.	1.0172895395832	0.96252	14.47503	0.801970913417976	0.89929	10.18212	0.999999999999901	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.060301	0.00762	0	0.195515	0.04268	0	0.887185	0.55460	3.49	3.49	0.39065	9.134000	0.93746	7.080000	0.57469	0.629000	0.51854	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	15.367	0.74244	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1721.43	34	chr4	8233514	.	G	A	1721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.537;DP=424;ExcessHet=0;FS=3.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=0.255;SOR=1.13	GT:AD:DP:GQ:PL	0/1:42,64:106:99:1733,0,1038	9	0	1	0
chr4	40120569	40120569	A	G	exonic	N4BP2	.	nonsynonymous SNV	N4BP2:NM_018177:exon9:c.A2458G:p.N820D,N4BP2:NM_001318359:exon10:c.A2218G:p.N740D	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00434107935872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.16	0.31427	T	0.06	0.23119	B	0.027	0.21085	B	0.456243	0.12446	N	0.771715	1	0.08975	N	1.895	0.50365	L	2.24	0.17923	T	-0.49	0.15578	N	0.178	0.19190	-0.9883	0.33027	T	0.038	0.16246	T	10	0.04307902	0.03121	T	0.004341	0.10561	T	0.052	0.14661	0.161	0.06507	0.324436698001	0.32047	0.08687110061109517	0.08621	0.144424200517	0.16313	0.38363468647	0.22771	T	0.003495	0.02899	T	-0.346772	0.04933	T	-0.73589	0.04066	T	0.0806347532930434	0.10068	T	0.665633	0.27494	T	0.04120305	0.06024	0.03937454	0.04017	0.04120305	0.06023	0.03937454	0.04017	-3.26	0.13227	T	.	.	0.097	0.15698	B	.	.	1.293656	0.16946	12.86	0.97493405149801116	0.34256	0.11006	0.16343	N	AEDGBI	0.050578	0.08853	N	-0.687039644655033	0.16389	0.8346275	-0.702963965479512	0.16886	0.8954316	0.999978350865365	0.50053	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.12	3.95	0.44952	1.036000	0.29837	1.833000	0.29130	-0.095000	0.16041	0.058000	0.21700	0.000000	0.08366	0.086000	0.17578	0.6389:0.1866:0.1745:0.0	4.441	0.10997	428	0.80967	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1955.43	70	chr4	40120569	.	A	G	1955.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.464;DP=534;ExcessHet=0;FS=6.09;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-1.207;SOR=0.376	GT:AD:DP:GQ:PL	0/1:69,81:150:99:1967,0,1811	9	0	1	0
chr4	44689319	44689319	A	G	exonic	GUF1	.	nonsynonymous SNV	GUF1:NM_001345869:exon9:c.A140G:p.N47S,GUF1:NM_001345867:exon10:c.A140G:p.N47S,GUF1:NM_001345868:exon10:c.A1112G:p.N371S,GUF1:NM_021927:exon10:c.A1112G:p.N371S	.	419	1100	3	0	0	3	0.00136178	.	.	.	720983	not_provided|GUF1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	.	.	0.00419329	0.0041	0	0.0002	0	0.0002	3.009e-05	0.0011	0.0296	0.0034799	538	154602	rs201208012	0.0018	0.0018	0.0010	0.0026	0.0283	0.0017	0.0017	0.0273	0.0269	0	4.497e-05	0	2.53e-05	0	0.0010	4.868e-05	0.0018	0.0283	0.0009	0.0009	0.0005	0.0014	0.0276	0.0008	0.0008	0.0238	0.0223	4.816e-05	0	0	0	0	0	0	7.367e-05	0.0005	0.0276	0.276	0.15717	T	0.225	0.25514	T	0.006	0.13644	B	0.001	0.04355	B	0.000157	0.49130	D	0.212273	0.953701	0.37842	D	0.48	0.13178	N	-0.3	0.67874	T	0.26	0.04380	N	0.166	0.17553	-0.9138	0.46377	T	0.145	0.46914	T	10	0.0062912107	0.00142	T	.	.	.	0.112	0.31546	0.293	0.25560	0.608069465739	0.60492	0.2093205776464217	0.20848	0.0503481169464	0.05528	0.436070680618	0.30040	T	0.031328	0.21993	T	-0.574402	0.00208	T	-0.576235	0.14883	T	0.019502990308273	0.00654	T	0.933407	0.75038	D	0.028993798	0.02324	0.04297408	0.05241	0.028993798	0.02324	0.04297408	0.05241	-5.221	0.39155	T	0.10098784006852264	0.07513	0.058	0.00717	B	.	.	1.748827	0.22250	15.54	0.98364421329461849	0.40678	0.84645	0.43730	D	AEFBI	0.151523	0.27602	N	-0.271603272695231	0.30250	1.684917	-0.102607426977713	0.35285	2.039568	0.999879353286604	0.44625	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.52	3.06	0.34374	2.703000	0.46778	5.294000	0.48217	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.7766:0.1473:0.0761:0.0	7.248	0.25308	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	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	0.006048	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.022727	0.05	681.43	40	chr4	44689319	.	A	G	681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.338;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.1;ReadPosRankSum=-1.633;SOR=0.69	GT:AD:DP:GQ:PL	0/1:64,32:96:99:693,0,1666	9	0	1	0
chr4	47643167	47643167	T	A	exonic	CORIN	.	nonsynonymous SNV	CORIN:NM_001278585:exon13:c.A1735T:p.S579C,CORIN:NM_001278586:exon14:c.A1936T:p.S646C,CORIN:NM_006587:exon15:c.A2047T:p.S683C	Preeclampsia/eclampsia 5	0	1483	37	2	0	41	0.0136349	.	.	.	799358	Preeclampsia/eclampsia_5|not_provided	MONDO:MONDO:0013817,MedGen:C3281288,OMIM:614595|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.617	.	0.0024	0.00219649	0.0034	0.0005	0.0009	0.0001	0.0005	0.0027	0.0022	0.0125	0.0032212	498	154602	rs144722161	0.0041	0.0041	0.0039	0.0044	0.0125	0.0040	0.0040	0.0118	0.0116	0.0005	0.0019	0.0008	5.039e-05	0.0005	0.0092	0.0040	0.0042	0.0125	0.0025	0.0025	0.0025	0.0024	0.0098	0.0023	0.0022	0.0075	0.0067	0.0005	0	0.0036	0.0020	0	0.0003	0	0.0034	0.0043	0.0098	0.006	0.63226	D	0.008	0.67890	D	0.999	0.77913	D	0.907	0.64423	P	0.007021	0.31644	N	0.371645	0.658238	0.38702	D	2.15	0.60148	M	-3.74	0.95493	D	-3.18	0.65397	D	0.531	0.57946	1.012	0.97389	D	0.891	0.96372	D	10	0.016170084	0.00340	T	.	.	.	0.617	0.85091	.	.	0.996126483672	0.99608	0.7308779753318358	0.73032	0.328817197517	0.34999	0.361546814442	0.19611	T	0.899451	0.98017	D	-0.183371	0.23234	T	-0.0251445	0.68690	D	0.0260425943509535	0.01412	T	0.837116	0.85735	T	0.14758348	0.33732	0.14285788	0.33971	0.16320157	0.36445	0.13279083	0.31855	-12.92	0.89031	D	.	.	0.239	0.53095	B	.;.;.;.;.;.	.;.;.;.;.;.	3.595535	0.50762	23.0	0.97281230887779913	0.33186	0.85771	0.44941	D	ALL	0.551415	0.56349	D	0.255324982985495	0.53902	3.557323	0.164724902045148	0.47928	3.015752	0.999995407326078	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.17	2.6	0.30173	2.896000	0.48355	0.002000	0.13306	-0.120000	0.14102	1.000000	0.71638	0.953000	0.29079	0.065000	0.16320	0.0:0.2528:0.0:0.7472	8.967	0.35042	417	0.81662	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.010870	0.020468	0.000000	0.000000	0.006098	0.007576	0.05	2039.43	34	chr4	47643167	.	T	A	2039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=464;ExcessHet=0;FS=6.977;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.093;SOR=1.207	GT:AD:DP:GQ:PL	0/1:78,79:157:99:2051,0,1898	9	0	1	0
chr4	48112500	48112500	G	A	exonic	TXK	.	nonsynonymous SNV	TXK:NM_003328:exon4:c.C187T:p.R63C	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00547779230687	0.0050	0.00219649	0.0042	0.0009	0.0019	0	0.0044	0.0060	0.0045	0.0024	0.0041203	637	154602	rs41265727	0.0059	0.0060	0.0060	0.0059	0.0068	0.0058	0.0058	0.0067	0.0067	0.0009	0.0031	0.0033	0	0.0051	0.0024	0.0068	0.0047	0.0030	0.0038	0.0038	0.0040	0.0036	0.0062	0.0035	0.0034	0.0057	0.0055	0.0010	0	0.0035	0.0026	0	0.0035	0	0.0062	0.0038	0.0012	0.078	0.33923	T	0.132	0.34477	T	0.733	0.42736	P	0.17	0.35299	B	0.315326	0.04040	N	1.500250	1	0.08975	N	-0.41	0.02942	N	2.29	0.17113	T	0.1	0.18248	N	0.087	0.06454	-1.0063	0.28065	T	0.014	0.05705	T	10	0.0030056238	0.00049	T	0.005478	0.14106	T	0.098	0.28162	.	.	0.221734844693	0.21761	0.3686796770075476	0.36781	0.204015260203	0.22813	0.195248842239	0.00332	T	0.058345	0.30815	T	-0.560405	0.00252	T	-0.572914	0.15184	T	0.000484030030117538	0.00004	T	0.662834	0.27951	T	0.038413256	0.05112	0.04190465	0.04870	0.038413256	0.05111	0.04190465	0.04870	-4.677	0.33125	T	.	.	0.073	0.04681	B	.;.	.;.	0.954120	0.13303	9.806	0.81805356389293149	0.13868	0.01665	0.05332	N	AEFDBI	0.054709	0.09970	N	-1.59687758296496	0.01280	0.05571596	-1.65367779862303	0.01357	0.06127382	0.999997032179081	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.633917	0.49826	0	.	.	5.12	-3.84	0.03976	-0.093000	0.11077	0.079000	0.14366	-0.916000	0.02226	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.5201:0.1048:0.3751:0.0	8.820	0.34180	430	0.80826	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1244.43	35	chr4	48112500	.	G	A	1244.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.117;DP=394;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-1.284;SOR=0.444	GT:AD:DP:GQ:PL	0/1:33,48:81:99:1256,0,856	9	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	151.14	113	chr4	53145477	.	T	C	151.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.836;DP=844;ExcessHet=0.2348;FS=106.627;InbreedingCoeff=-0.1109;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.28;SOR=7.546	GT:AD:DP:GQ:PL	0/1:85,24:109:21:21,0,1985	8	0	2	0
chr4	67931993	67931993	G	A	exonic	TMPRSS11A	.	nonsynonymous SNV	TMPRSS11A:NM_001114387:exon4:c.C320T:p.T107I,TMPRSS11A:NM_182606:exon4:c.C329T:p.T110I	.	429	1088	5	0	0	5	0.00229253	0.0175	0.194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0182138175605	7.7e-05	.	0.0005	0	0.0002	0	0	7.509e-05	0.0022	0.0030	0.0003881	60	154602	rs151094571	0.0003	0.0003	0.0002	0.0004	0.0031	0.0003	0.0002	0.0028	0.0027	0	8.969e-05	0	2.527e-05	1.878e-05	0.0007	0.0001	0.0001	0.0031	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	4.819e-05	0.0121	0	0	0	9.47e-05	0	0.0002	0	0.0021	0.054	0.38633	T	0.053	0.48080	T	.	.	.	.	.	.	0.000018	0.62929	D	0.000000	0.798486	0.34479	D	.	.	.	1.05	0.39990	T	-3.01	0.64478	D	0.47	0.50598	-0.9094	0.46928	T	0.106	0.38636	T	9	0.012391746	0.00266	T	0.018214	0.40197	T	0.127	0.34888	.	.	0.431712495121	0.42787	0.3987622539140241	0.39791	0.128422897595	0.14478	0.491270422935	0.37615	T	.	.	.	-0.460983	0.00969	T	-0.438311	0.28997	T	0.126962312563578	0.15098	T	0.525248	0.17252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.;.;.	.;.;.	2.358701	0.30252	18.38	0.9958055083326286	0.72980	0.70469	0.34603	D	AEFBI	0.194504	0.32159	N	0.0800884749148915	0.45534	2.808366	0.165303739972639	0.47958	3.018427	0.634030320901188	0.21994	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.08	4.37	0.51830	1.616000	0.36543	0.628000	0.20199	-0.105000	0.15698	1.000000	0.71638	0.997000	0.33255	0.919000	0.45453	0.1625:0.0:0.8375:0.0	9.472	0.38009	797	0.45241	.;SEA domain|SEA domain;SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	571.43	34	chr4	67931993	.	G	A	571.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.24;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.72;ReadPosRankSum=0.46;SOR=0.713	GT:AD:DP:GQ:PL	0/1:55,30:85:99:583,0,1287	9	0	1	0
chr4	68068744	68068744	C	T	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon7:c.G629A:p.R210K	.	340	1171	11	0	0	11	0.00467488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0011	0.00359425	0.0028	0	0.0002	0	0	0.0019	0.0044	0.0123	0.0026002	402	154602	rs146652094	0.0026	0.0026	0.0023	0.0028	0.0118	0.0025	0.0025	0.0112	0.0109	0.0002	0.0002	3.826e-05	2.519e-05	0.0003	0.0033	0.0023	0.0023	0.0118	0.0016	0.0016	0.0016	0.0016	0.0101	0.0014	0.0014	0.0079	0.0071	0.0004	0.0121	0.0003	0	0	0.0002	0	0.0023	0.0014	0.0101	0.972	0.02043	T	0.36	0.16964	T	0.047	0.21998	B	0.061	0.26820	B	0.003580	0.34767	N	0.197117	1	0.08975	N	0.46	0.12951	N	-2.36	0.88143	D	-0.43	0.14390	N	0.232	0.26111	-0.8141	0.54300	T	0.210	0.57041	T	10	0.005112022	0.00111	T	.	.	.	0.181	0.45247	.	.	0.617224619168	0.61412	0.560962303913896	0.56023	0.123739431826	0.13926	0.320051193237	0.13429	T	0.117911	0.43834	T	-0.361966	0.04020	T	-0.281685	0.46630	T	0.00811350242353398	0.00097	T	0.30297	0.05734	T	0.066040516	0.14171	0.05269963	0.08732	0.066040516	0.14170	0.05269963	0.08731	-3.159	0.11986	T	.	.	0.073	0.04558	B	.	.	1.184490	0.15755	12.08	0.58894590845279449	0.06098	0.04668	0.10345	N	AEFDI	0.093650	0.18946	N	-0.85174137210942	0.12007	0.5827035	-0.687720839081708	0.17268	0.9173849	0.0704932711147111	0.15530	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.82	3.1	0.34780	0.974000	0.29033	.	.	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.932000	0.46971	0.1526:0.5352:0.2178:0.0944	3.419	0.06960	922	0.19044	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.018939	0.05	918.43	33	chr4	68068744	.	C	T	918.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.35;DP=426;ExcessHet=0;FS=3.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=-0.793;SOR=0.419	GT:AD:DP:GQ:PL	0/1:71,42:113:99:930,0,1873	9	0	1	0
chr4	69727197	69727197	G	A	exonic	SULT1B1	.	nonsynonymous SNV	SULT1B1:NM_014465:exon8:c.C782T:p.T261M	.	449	1072	1	0	0	1	0.0004662	.	.	.	2822555	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.0214320027591	0.0042	0.00239617	0.0025	0.0093	0.0010	0.0001	0.0008	0.0028	0	0	0.0023415	362	154602	rs11569729	0.0018	0.0018	0.0019	0.0017	0.0081	0.0017	0.0017	0.0073	0.0070	0.0081	0.0007	3.898e-05	0	0.0018	0.0011	0.0019	0.0017	8.31e-05	0.0037	0.0037	0.0039	0.0034	0.0093	0.0034	0.0033	0.0085	0.0082	0.0093	0	0.0011	0	0	0.0009	0	0.0021	0.0024	0.0004	0.574	0.06106	T	0.316	0.19362	T	0.017	0.17573	B	0.011	0.15521	B	0.576383	0.11186	N	0.802103	1	0.08975	N	0.955	0.23872	L	-1.65	0.82625	D	0.34	0.03824	N	0.119	0.10911	-0.9480	0.41313	T	0.174	0.51753	T	10	0.004876703	0.00104	T	0.021432	0.44197	T	0.057	0.16321	.	.	0.423002944196	0.41917	0.3704365855843765	0.36957	0.0157081602099	0.01500	0.271120518446	0.06288	T	0.14151	0.47661	T	-0.478067	0.00759	T	-0.452947	0.27372	T	0.00109532071413289	0.00011	T	0.406259	0.10435	T	0.01732337	0.00264	0.026034718	0.00672	0.01732337	0.00263	0.026034718	0.00672	-3.445	0.15670	T	.	.	0.075	0.05711	B	.	.	-1.248734	0.00484	0.010	0.17540857581738156	0.00515	0.00301	0.01603	N	AEFBCI	0.019849	0.00727	N	-1.38422312189301	0.02786	0.12349	-1.3900384470195	0.03357	0.1564388	0.923383706899857	0.26741	0.730579	0.87903	0	0.573888	0.26702	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	5.25	-0.0667	0.13095	-0.321000	0.08060	.	.	-4.071000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5001:0.0:0.3738:0.1261	5.791	0.17623	946	0.12043	Sulfotransferase 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	0.002014	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	581.43	38	chr4	69727197	.	G	A	581.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=356;ExcessHet=0;FS=1.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.479;SOR=1.179	GT:AD:DP:GQ:PL	0/1:22,20:42:99:593,0,603	9	0	1	0
chr4	75936201	75936201	C	T	exonic	NAAA	.	nonsynonymous SNV	NAAA:NM_001042402:exon3:c.G406A:p.G136S,NAAA:NM_001363719:exon3:c.G406A:p.G136S,NAAA:NM_014435:exon3:c.G406A:p.G136S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.0780031674049	0.0002	.	4.97e-05	0	0	0	0	5.995e-05	0	0.0001	4.53e-05	7	154602	rs369955132	3.215e-05	3.215e-05	2.587e-05	3.851e-05	0.0028	2.478e-05	2.221e-05	0.0017	0.0014	0	2.236e-05	0	0	0	0.0028	1.799e-05	4.968e-05	8.116e-05	2.632e-05	2.627e-05	2.572e-05	2.694e-05	0.0002	8.15e-06	5.15e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0.0002	0.008	0.91255	D	0.011	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999953	0.52396	D	3.515	0.92918	H	-1.27	0.79277	T	-5.73	0.87687	D	0.834	0.85238	0.465	0.90045	D	0.698	0.89598	D	10	0.9094987	0.90314	D	0.078003	0.72903	D	0.734	0.90721	.	.	0.88703323208	0.88592	0.9219949667970719	0.92175	0.920899058271	0.71449	0.529357671738	0.42943	T	0.596577	0.94919	D	0.273691	0.80768	D	0.358015	0.90627	D	0.929601550102234	0.59377	D	0.957004	0.83719	D	0.796939	0.83711	0.6975278	0.82186	0.796939	0.83712	0.6975278	0.82187	-9.853	0.73027	D	.	.	0.25	0.56818	B	.;.;.;.	.;.;.;.	4.728900	0.76146	26.5	0.99895363455259945	0.96819	0.93386	0.58078	D	AEFDBI	0.798235	0.72484	D	0.88027344470522	0.90761	10.553	0.822371633753617	0.91304	10.81942	0.999999996363744	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.592323	0.36904	0	.	.	5.9	5.9	0.94952	5.977000	0.70179	7.499000	0.59464	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.502000	0.29062	0.0:1.0:0.0:0.0	17.767	0.88390	871	0.31377	Choloylglycine hydrolase/NAAA C-terminal;.;Choloylglycine hydrolase/NAAA C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1296.43	34	chr4	75936201	.	C	T	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=447;ExcessHet=0;FS=3.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-2.428;SOR=1.083	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1308,0,1375	9	0	1	0
chr4	75957683	75957683	A	G	exonic	SDAD1	.	nonsynonymous SNV	SDAD1:NM_001288983:exon18:c.T1493C:p.M498T,SDAD1:NM_001288984:exon19:c.T1313C:p.M438T,SDAD1:NM_018115:exon19:c.T1604C:p.M535T	.	435	1080	7	0	0	7	0.00323027	.	.	.	2822592	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0032	0.00279553	0.0053	0.0006	0.0004	0	0.0296	0.0061	0.0088	0.0012	0.0048706	753	154602	rs114534142	0.0051	0.0051	0.0050	0.0051	0.0050	0.0050	0.0049	0.0049	0.0048	0.0007	0.0007	0.0014	0	0.0261	0.0024	0.0050	0.0040	0.0013	0.0046	0.0046	0.0043	0.0049	0.0056	0.0043	0.0042	0.0051	0.0050	0.0006	0.0011	0.0009	0.0012	0	0.0250	0	0.0056	0.0009	0.0010	0.709	0.04148	T	0.594	0.08134	T	0.0	0.02946	B	0.002	0.06944	B	0.533790	0.11610	N	0.815477	1	0.08975	N	0.06	0.08197	N	2.05	0.20664	T	0.19	0.05503	N	0.055	0.06720	-0.9545	0.40185	T	0.015	0.05801	T	10	0.0017833412	0.00023	T	.	.	.	0.010	0.01040	.	.	0.101711395817	0.09552	0.1075196926481377	0.10680	0.0614379002088	0.06845	0.212230697274	0.00909	T	0.004499	0.03907	T	-0.64445	0.00078	T	-0.692935	0.06220	T	0.00304556858701323	0.00032	T	0.487551	0.14930	T	0.047017943	0.07968	0.06709048	0.13832	0.047017943	0.07968	0.06709048	0.13832	-2.807	0.08248	T	.	.	0.066	0.02257	B	.;.	.;.	0.845266	0.12171	8.719	0.47605109599516915	0.03905	0.09519	0.15257	N	AEFBI	0.070198	0.13925	N	-0.998821430156393	0.08630	0.405332	-0.917382945242897	0.11684	0.5967665	9.27303907318025E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.25	-0.151	0.12755	0.660000	0.24691	1.239000	0.25094	0.751000	0.87719	0.001000	0.13787	0.000000	0.08366	0.911000	0.44643	0.4486:0.0:0.5514:0.0	8.123	0.30140	802	0.44336	SDA1 domain;SDA1 domain	.	.	.	.	rs114534142	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1459.43	34	chr4	75957683	.	A	G	1459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.006;DP=617;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.138;SOR=0.629	GT:AD:DP:GQ:PL	0/1:58,58:116:99:1471,0,1489	9	0	1	0
chr4	76770867	76770867	G	A	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon10:c.G5591A:p.G1864D	.	420	1080	20	2	0	24	0.010989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.0123488510093	0.0005	0.000199681	0.0008	0	0.0003	0	0	0.0010	0.0055	0.0012	0.0007827	121	154602	rs145235341	0.0006	0.0006	0.0005	0.0007	0.0192	0.0006	0.0005	0.0163	0.0153	0.0004	0.0011	0.0001	0	0	0.0192	0.0005	0.0012	0.0008	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0	0.0010	0	0	0	0.0136	0.0007	0.0038	0.0006	0.019	0.50132	D	0.552	0.09361	T	0.989	0.62824	D	0.713	0.54588	P	0.015070	0.28350	N	0.374768	0.988469	0.40769	D	1.245	0.31408	L	1.6	0.28604	T	-2.53	0.54864	D	0.423	0.46274	-0.9910	0.32347	T	0.130	0.43948	T	10	0.05494377	0.05928	T	0.012349	0.30844	T	0.141	0.37795	.	.	0.179529687257	0.17594	0.20259952787936286	0.20176	1.18248504011	0.80057	0.590186476707	0.51520	T	0.049425	0.28304	T	-0.405799	0.02120	T	-0.406119	0.32674	T	0.0571807955546346	0.06718	T	0.651335	0.26216	T	0.19435224	0.41182	0.26907015	0.52782	0.19435224	0.41182	0.26907015	0.52781	-7.754	0.59382	D	.	.	0.273	0.50690	B	.;.	.;.	3.926849	0.57374	23.8	0.99760390558988343	0.85011	0.96876	0.71420	D	AEFDBI	0.744437	0.68743	D	0.493759808712527	0.66722	4.987329	0.477484532165668	0.66502	4.960259	0.99999999997178	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.53	5.53	0.82530	3.179000	0.50587	8.629000	0.77845	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.272000	0.23818	0.0:0.0:1.0:0.0	19.659	0.95852	784	0.47045	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.005051	0.016304	0.017544	0.000000	0.008621	0.006098	0.011364	0.05	977.43	33	chr4	76770867	.	G	A	977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.581;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.31;SOR=0.777	GT:AD:DP:GQ:PL	0/1:43,37:80:99:989,0,1075	9	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5581.44	43	chr4	87615730	.	ATAG	*	5581.44	.	AC=8;AF=0.4;AN=20;DP=390;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=58.11;QD=19.52;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,7:18:99:0|1:87615730_ATAG_A:1164,484,501:87615730	4	2	4	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4265.86	19	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4265.86	.	AC=8;AF=0.4;AN=20;DP=428;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=57.76;QD=20.22;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,7:18:99:0|1:87615730_ATAG_A:1142,471,612:87615730	4	2	4	0
chr4	87615923	87615924	CA	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	227	3	1	217	222	0.0108932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615923	.	CA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,18:18:52:1|1:87615883_A_G:754,52,0:87615883	1	4	2	3
chr4	87615925	87615936	GTGACAGCAGCA	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	1073	228	3	1	217	222	0.010846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615925	.	GTGACAGCAGCA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,18:18:52:1|1:87615883_A_G:754,52,0:87615883	1	4	2	3
chr4	94664051	94664051	A	G	exonic	PDLIM5	.	nonsynonymous SNV	PDLIM5:NM_001256425:exon12:c.A800G:p.H267R,PDLIM5:NM_001256428:exon12:c.A1409G:p.H470R,PDLIM5:NM_001011513:exon13:c.A1448G:p.H483R,PDLIM5:NM_006457:exon13:c.A1775G:p.H592R,PDLIM5:NM_001256426:exon17:c.A1862G:p.H621R	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	.	0.0074	0.00399361	0.0079	0.0018	0.0026	0.0001	0.0230	0.0099	0.0077	0.0052	0.0077295	1195	154602	rs76352571	0.0098	0.0098	0.0097	0.0099	0.0107	0.0097	0.0096	0.0106	0.0105	0.0011	0.0022	0.0008	0	0.0230	0.0012	0.0107	0.0086	0.0054	0.0076	0.0076	0.0073	0.0079	0.0114	0.0072	0.0071	0.0107	0.0105	0.0016	0	0.0020	0.0006	0.0006	0.0230	0.0034	0.0114	0.0061	0.0039	0.007	0.59928	D	0.014	0.92824	D	0.992	0.90584	D	0.989	0.97372	D	0.000005	0.62929	D	0.105778	1	0.81001	D	0.1	0.08449	N	0.65	0.58029	T	-5.47	0.89152	D	0.608	0.69037	-0.6314	0.63511	T	0.213	0.57388	T	10	0.00881511	0.00200	T	.	.	.	0.446	0.74797	.	.	0.836370529571	0.83480	0.6732097579457009	0.67258	0.5818623181	0.53964	0.7609770298	0.76073	T	0.083552	0.87510	T	-0.339443	0.05426	T	-0.249332	0.49882	T	0.0225501479514637	0.00971	T	0.940606	0.77652	D	0.6682194	0.76337	0.6900932	0.81766	0.6682194	0.76339	0.6900932	0.81767	-10.267	0.75957	D	.	.	0.351	0.79163	A	.;.;.;.;.	.;.;.;.;.	4.724063	0.76021	26.4	0.9981425809924922	0.89797	0.99372	0.95168	D	AEFBI	.	.	.	0.744661387980843	0.82558	7.792073	0.752460654985872	0.86340	8.857948	0.999999999999896	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.78	5.78	0.91418	7.342000	0.78550	11.221000	0.89777	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.103	0.81002	872	0.31118	Zinc finger, LIM-type;.;Zinc finger, LIM-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	526.43	33	chr4	94664051	.	A	G	526.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.111;DP=384;ExcessHet=0;FS=2.15;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-1.866;SOR=0.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,27:66:99:0|1:94664051_A_G:538,0,1444:94664051	9	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1544.91	130	chr4	99318097	.	C	G	1544.91	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.498;DP=1449;ExcessHet=10.3881;FS=281.803;InbreedingCoeff=-0.6704;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=1.5;ReadPosRankSum=-0.079;SOR=11.983	GT:AD:DP:GQ:PL	0/1:82,30:112:25:25,0,1627	2	0	8	0
chr4	99581989	99581989	G	A	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon2:c.G227A:p.G76E,MTTP:NM_000253:exon3:c.G146A:p.G49E	Abetalipoproteinemia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	829544	not_provided|Abetalipoproteinaemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.01085904832	0.0005	0.000599042	9.061e-05	0.0010	8.642e-05	0	0	0	0	0	9.06e-05	14	154602	rs145545828	4.515e-05	4.515e-05	5.309e-05	3.713e-05	0.0013	3.641e-05	3.321e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0	3.597e-06	0.0001	4.637e-05	0.0003	0.0003	0.0003	0.0004	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0.0001	0	0	0	0	0	0	0	0.048	0.40068	D	0.132	0.43721	T	0.004	0.12183	B	0.007	0.12992	B	0.000010	0.62929	N	0.147383	0.985308	0.40265	D	1.67	0.42885	L	3.57	0.04645	T	-2.31	0.70920	N	0.192	0.23125	-0.9482	0.41279	T	0.006	0.02131	T	10	0.020805508	0.00486	T	0.010859	0.27874	T	0.076	0.22200	.	.	0.33835085245	0.33439	0.4448716571261399	0.44405	0.311117015256	0.33418	0.358237862587	0.19129	T	0.059939	0.52198	T	-0.506454	0.00526	T	-0.559455	0.16428	T	0.032962690471649	0.02465	T	0.70353	0.32156	T	0.0972269	0.22915	0.09675323	0.23003	0.0972269	0.22915	0.09675323	0.23002	-2.996	0.18553	T	0.4371825820765559	0.52332	0.104	0.18869	B	.;.;.;.;.	.;.;.;.;.	2.385338	0.30625	18.49	0.84410260618038069	0.15275	0.72497	0.35482	D	AEFGBI	0.623051	0.60714	D	-0.739251060229235	0.14927	0.7478086	-0.603350771892026	0.19406	1.041057	0.0110967979772414	0.12130	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.76	1.21	0.20240	2.980000	0.49011	3.260000	0.37085	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.3212:0.1172:0.5617:0.0	7.342	0.25817	933	0.16026	Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1380.43	33	chr4	99581989	.	G	A	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.787;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.442;SOR=0.69	GT:AD:DP:GQ:PL	0/1:87,63:150:99:1392,0,2050	9	0	1	0
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T,PPP3CA:NM_001130691:exon2:c.G164C:p.R55T,PPP3CA:NM_001130692:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	558.94	158	chr4	101196011	.	C	G	558.94	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-2.583;DP=1017;ExcessHet=0.7463;FS=218.697;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=2.31;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,36:207:62:0|1:101196011_C_G:62,0,6084:101196011	1	0	3	6
chr4	101196015	101196015	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G160C:p.G54R,PPP3CA:NM_001130691:exon2:c.G160C:p.G54R,PPP3CA:NM_001130692:exon2:c.G160C:p.G54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.311424803661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000059	0.53742	D	0.123284	0.998229	0.81001	D	3.34	0.90961	M	3.36	0.69287	T	-3.81	0.95842	D	0.816	0.81261	0.428	0.89507	D	0.620	0.86597	D	10	0.8392846	0.83082	D	0.311425	0.91197	D	0.546	0.81135	0.377	0.39156	0.8575125375	0.85613	0.9159854388386633	0.91573	2.47311793574	0.97507	0.874480307102	0.93203	D	0.801841	0.94956	D	0.387858	0.89198	D	0.319355	0.89062	D	0.995761930942535	0.88027	D	0.999394	0.99801	D	0.9461721	0.95876	0.856816	0.91963	0.9461721	0.95876	0.856816	0.91963	-3.186	0.92607	T	0.8000097979291737	0.87694	0.993	0.98907	P	.;.;.;.;.;.	.;.;.;.;.;.	4.568295	0.72054	25.8	0.99886416990084914	0.96126	0.98495	0.83383	D	AEFBI	0.918562	0.88780	D	1.01926601861206	0.96308	14.53905	0.951211567613319	0.97440	16.13271	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	262.72	108	chr4	101196015	.	C	G	262.72	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.855;DP=929;ExcessHet=0.2348;FS=268.399;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=2.5;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,36:210:54:0|1:101196011_C_G:54,0,6120:101196011	6	0	2	2
chr4	101196016	101196016	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G159C:p.E53D,PPP3CA:NM_001130691:exon2:c.G159C:p.E53D,PPP3CA:NM_001130692:exon2:c.G159C:p.E53D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.116487356064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.099	0.76473	T	0.999	0.77913	D	0.983	0.77487	D	0.000010	0.62929	D	0.063490	0.999785	0.81001	D	3.33	0.90841	M	3.34	0.68030	T	-0.56	0.60982	N	0.68	0.68690	0.033	0.82908	D	0.539	0.82965	D	10	0.32277888	0.49624	T	0.116487	0.79598	D	0.350	0.67142	0.33	0.31519	0.773359322219	0.77127	0.8378449950538576	0.83744	1.27153484112	0.82284	0.813342690468	0.84005	D	0.717944	0.92006	D	0.0589917	0.59486	T	-0.153039	0.58973	T	0.946301698684692	0.62442	D	0.997538	0.98994	D	0.8979212	0.91197	0.65002483	0.79525	0.8979212	0.91198	0.65002483	0.79526	-4.126	0.86258	T	0.8950661470831041	0.94845	0.943	0.95244	P	.;.;.;.;.;.	.;.;.;.;.;.	2.683555	0.35009	19.78	0.9972510742553008	0.82336	0.88357	0.48248	D	AEFBI	0.391531	0.46994	N	0.294411657883077	0.55866	3.750601	0.193394592815693	0.49485	3.151024	0.999851423398159	0.44174	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	2.03	0.25714	0.074000	0.14525	0.415000	0.18155	-0.182000	0.10109	0.941000	0.32681	0.994000	0.32194	0.993000	0.69303	0.0:0.6313:0.0:0.3687	9.685	0.39256	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	249.14	49	chr4	101196016	.	C	G	249.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.047;DP=676;ExcessHet=0.2348;FS=258.629;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.5;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,34:207:43:0|1:101196011_C_G:43,0,6086:101196011	8	0	2	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	639.89	106	chr4	106925843	.	C	T	639.89	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.655;DP=1109;ExcessHet=7.0302;FS=156.498;InbreedingCoeff=-0.5348;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=0.65;ReadPosRankSum=1.63;SOR=10.97	GT:AD:DP:GQ:PL	0/1:119,43:162:99:182,0,2158	3	0	7	0
chr4	119031462	119031462	A	G	exonic	SYNPO2	.	nonsynonymous SNV	SYNPO2:NM_001128933:exon4:c.A2687G:p.H896R,SYNPO2:NM_001128934:exon4:c.A2687G:p.H896R,SYNPO2:NM_001286754:exon4:c.A2594G:p.H865R,SYNPO2:NM_133477:exon4:c.A2687G:p.H896R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0121520121327	.	.	8.247e-06	0	8.646e-05	0	0	0	0	0	6.5e-06	1	154602	rs752575486	7.525e-06	7.524e-06	1.225e-05	2.75e-06	0.0001	4.04e-06	2.95e-06	4.358e-05	2.767e-05	0	0.0001	0	0	1.872e-05	0	1.799e-06	3.311e-05	1.159e-05	2.63e-05	2.627e-05	2.571e-05	2.692e-05	0.0002	8.15e-06	5.14e-06	.	.	0	0	6.548e-05	0	0	9.423e-05	0	1.47e-05	0	0.0002	0.043	0.41364	D	0.157	0.31730	T	0.007	0.14184	B	0.004	0.10090	B	0.000114	0.50451	D	0.085870	0.960329	0.81001	D	2.02	0.55341	M	3.1	0.08371	T	-0.9	0.25118	N	0.18	0.19459	-1.0748	0.08390	T	0.025	0.10598	T	9	0.09904447	0.17948	T	0.012152	0.30463	T	0.051	0.14325	0.368	0.37687	0.0934897674506	0.08844	0.2188470487833112	0.21800	0.103562949394	0.11719	0.547295928001	0.45476	T	0.017958	0.14562	T	-0.376557	0.03275	T	-0.581703	0.14394	T	0.401490718126297	0.28998	T	0.731927	0.34732	T	0.104325086	0.24663	0.108760886	0.26204	0.104325086	0.24663	0.108760886	0.26203	-8.494	0.66093	D	.	.	0.125	0.26357	B	.;.;.;.	.;.;.;.	2.014995	0.25606	16.82	0.97799107142184705	0.36052	0.97731	0.76726	D	AEFDBI	0.868618	0.78881	D	-0.024714579188444	0.40739	2.424508	0.133277803118357	0.46262	2.875039	0.999999992990365	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.76	4.56	0.55644	6.304000	0.72770	4.143000	0.42101	0.756000	0.94297	1.000000	0.71638	0.997000	0.33255	0.997000	0.79791	0.9312:0.0:0.0687:0.0	11.868	0.51783	577	0.69927	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2410.43	39	chr4	119031462	.	A	G	2410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.327;DP=528;ExcessHet=0;FS=3.497;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.306;SOR=0.468	GT:AD:DP:GQ:PL	0/1:86,89:175:99:2422,0,2415	9	0	1	0
chr4	122331384	122331384	C	T	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_015312:exon65:c.C11308T:p.R3770C,KIAA1109:NM_001384125:exon69:c.C11572T:p.R3858C	.	430	1090	2	0	0	2	0.00091659	.	.	.	3200728	BLTP1-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.353	0.00653396839474	0.0013	0.000399361	0.0012	0.0003	0.0005	0.0002	0.0003	0.0017	0.0023	0.0006	0.0011578	179	154602	rs77586875	0.0012	0.0012	0.0011	0.0012	0.0026	0.0011	0.0011	0.0016	0.0013	0.0003	0.0010	0.0023	5.048e-05	0.0004	0.0026	0.0013	0.0011	0.0006	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0007	0.0012	0.0011	7.228e-05	0	0.0011	0.0020	0	0.0004	0.0034	0.0015	0.0014	0.0004	0.002	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	2.26	0.41750	T	-3.57	0.68999	D	0.279	0.31590	-0.7294	0.58994	T	0.239	0.60702	T	10	0.02985257	0.01112	T	0.006534	0.17215	T	0.353	0.67418	.	.	0.527958119908	0.52444	0.6408344828245317	0.64018	1.93690353185	0.93198	0.652093410492	0.60283	T	0.172408	0.52089	T	-0.16479	0.26025	T	-0.0341138	0.68095	D	0.0692916739349402	0.08552	T	0.991015	0.97232	D	0.4874215	0.66349	0.42830154	0.66548	0.55832416	0.70418	0.41672733	0.65748	-5.915	0.45562	T	.	.	0.269	0.63867	B	.;.;.	.;.;.	4.098615	0.61094	24.3	0.99939284968199948	0.99734	0.99271	0.93751	D	AEFDBI	0.896896	0.83847	D	0.811253738542987	0.86804	9.004729	0.824330953187795	0.91431	10.883	0.999999999999988	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	7.440000	0.79607	7.622000	0.62351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.260	0.98443	883	0.28872	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	923.43	39	chr4	122331384	.	C	T	923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.886;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.339;SOR=0.653	GT:AD:DP:GQ:PL	0/1:38,37:75:99:935,0,940	9	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	2255.24	79	chr4	140563137	.	C	G	2255.24	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.837;DP=883;ExcessHet=15.1594;FS=200.301;InbreedingCoeff=-0.8222;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=-0.592;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,22:72:99:.:.:257,0,1544:.	1	0	9	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2261.8	79	chr4	140563138	.	C	G	2261.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.878;DP=877;ExcessHet=15.1594;FS=206.912;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-0.474;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,22:71:99:.:.:302,0,1465:.	0	0	9	1
chr4	146639305	146639305	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.165_166insGGCGGCGGC:p.G68_R69insGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530695040	0.0023	0.0020	0.0024	0.0022	0.0159	0.0022	0.0022	0.0146	0.0141	0.0159	0.0010	0.0001	0.0121	0.0005	0.0033	0.0018	0.0029	0.0013	0.0066	0.0066	0.0069	0.0063	0.0184	0.0062	0.0061	0.0173	0.0168	0.0184	0	0.0015	0.0003	0.0084	0.0003	0	0.0021	0.0054	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	12038.6	40	chr4	146639305	.	T	TGGCGGCGGC	12038.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.128;DP=496;ExcessHet=0.7463;FS=5.287;InbreedingCoeff=-0.1762;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=33.16;ReadPosRankSum=-0.193;SOR=1.063	GT:AD:DP:GQ:PL	0/1:0,26:47:99:1963,857,796	9	0	1	0
chr4	147866779	147866779	A	G	exonic	ARHGAP10	.	nonsynonymous SNV	ARHGAP10:NM_024605:exon7:c.A665G:p.N222S	.	437	1081	4	0	0	4	0.00184672	.	.	.	858324	Epidermolysis_bullosa_simplex_with_nail_dystrophy|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.00219188709733	.	.	0.0003	0	0.0005	0.0016	0	0.0002	0.0022	0.0001	0.000304	47	154602	rs145720035	0.0002	0.0002	0.0002	0.0003	0.0057	0.0002	0.0002	0.0042	0.0037	0.0002	0.0004	0.0002	0.0020	0	0.0057	0.0002	0.0005	0.0001	0.0002	0.0002	0.0003	0.0002	0.0015	0.0002	0.0002	0.0008	0.0006	4.811e-05	0	0.0002	0	0.0015	0	0.0136	0.0002	0.0014	0.0002	0.641	0.04987	T	0.628	0.07244	T	0.006	0.13644	B	0.003	0.08700	B	0.000142	0.49130	D	0.238952	0.854937	0.35286	D	-0.205	0.04094	N	3.76	0.03892	T	-0.75	0.21003	N	0.087	0.06454	-0.9314	0.43933	T	0.007	0.02360	T	10	0.015098661	0.00317	T	0.002192	0.04124	T	0.062	0.17934	0.258	0.20002	0.0846915920261	0.08053	0.20875505634515149	0.20791	0.111254763332	0.12551	0.613865315914	0.54861	T	0.010172	0.09205	T	-0.597439	0.00151	T	-0.661035	0.08196	T	0.0394319051347689	0.03588	T	0.848615	0.53011	T	0.10101962	0.23860	0.045721337	0.06214	0.10101962	0.23859	0.045721337	0.06214	-4.516	0.31097	T	.	.	0.056	0.00487	B	.	.	2.975938	0.39681	21.0	0.90113041660201187	0.19394	0.69993	0.34409	D	ALL	0.407420	0.47951	N	-0.408621925574924	0.25166	1.364136	-0.143879988529683	0.33644	1.926725	0.999999999999005	0.74766	0.741868	0.97996	0	0.779548	0.99637	0	0.459711	0.06710	0	0.662026	0.63922	0	.	.	6.17	5.0	0.66209	3.273000	0.51326	9.145000	0.78926	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8591:0.0:0.1409:0.0	9.026	0.35392	791	0.46100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.010101	0.006793	0.023392	0.000000	0.025862	0.000000	0.000000	0.05	1180.43	34	chr4	147866779	.	A	G	1180.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=417;ExcessHet=0;FS=3.423;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.403;SOR=0.827	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1192,0,1341	9	0	1	0
chr4	150896425	150896425	G	C	exonic	LRBA	.	nonsynonymous SNV	LRBA:NM_001199282:exon16:c.C2036G:p.A679G,LRBA:NM_001364905:exon16:c.C2036G:p.A679G,LRBA:NM_001367550:exon16:c.C2036G:p.A679G,LRBA:NM_006726:exon16:c.C2036G:p.A679G	Immunodeficiency, common variable, 8, with autoimmunity, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	632014	Inborn_genetic_diseases|Combined_immunodeficiency_due_to_LRBA_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700,Orphanet:445018	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.0181693055619	.	.	8.348e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs769836776	6.467e-06	6.846e-06	7.18e-06	5.752e-06	0.0002	3.04e-06	2.2e-06	2.75e-06	1.77e-06	0	0	0	0	0	0.0002	6.613e-06	1.733e-05	0	6.583e-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	0.053	0.39334	T	0.063	0.45318	T	0.005	0.25713	B	0.009	0.36881	B	0.000254	0.46924	D	0.147023	0.998663	0.45243	D	1.095	0.27400	L	0.74	0.50459	T	-1.68	0.42001	N	0.446	0.48780	-0.8383	0.52760	T	0.167	0.50534	T	10	0.2926815	0.46845	T	0.018169	0.40143	T	0.096	0.27654	0.456	0.52102	0.562879358496	0.55950	0.2893415663554679	0.28847	0.50819796643	0.48984	0.696129083633	0.66586	T	0.051296	0.28840	T	-0.0603757	0.42849	T	-0.324502	0.42079	T	0.687107861042023	0.40114	D	0.846215	0.52631	T	0.180329	0.39148	0.17125545	0.39295	0.180329	0.39148	0.17125545	0.39294	-4.7	0.33404	T	0.2134873286270781	0.28667	0.132	0.28464	B	.;.;.	.;.;.	3.588864	0.50628	23.0	0.9969396786782464	0.80112	0.91038	0.52739	D	AEFGI	0.500070	0.53348	D	0.162230958479416	0.49393	3.140167	0.301317150343092	0.55615	3.724618	0.642617211934495	0.22067	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	5.503000	0.66679	8.549000	0.77521	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1414:0.8586:0.0	15.165	0.72496	876	0.30350	.;Domain of unknown function DUF4704;Domain of unknown function DUF4704	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	659.43	33	chr4	150896425	.	G	C	659.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.14;DP=345;ExcessHet=0;FS=0.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.686;SOR=0.843	GT:AD:DP:GQ:PL	0/1:34,30:64:99:671,0,683	9	0	1	0
chr4	154235038	154235038	A	G	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon20:c.T9614C:p.V3205A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00352563123237	.	.	4.129e-05	0	0	0	0	7.506e-05	0	0	3.23e-05	5	154602	rs113715697	2.189e-05	2.189e-05	2.042e-05	2.338e-05	1.529e-05	1.584e-05	1.356e-05	9.31e-06	7.61e-06	0	0	0	0	5.619e-05	0	1.529e-05	0.0002	0	6.568e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.549144	0.05359	N	1.312490	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0416	0.16830	T	0.072	0.29195	T	10	0.07137498	0.10513	T	0.003526	0.08000	T	0.039	0.10176	.	.	.	.	0.05699996416776833	0.05640	0.0874219901081	0.09857	0.234684616327	0.02332	T	.	.	.	-0.269294	0.11836	T	-0.516941	0.20605	T	0.0126443465602	0.00212	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	0.770236	0.11402	8.013	0.52519554064077711	0.04763	0.07274	0.13297	N	AEFI	0.090927	0.18421	N	-1.25554534424512	0.04227	0.1903644	-1.25838088117077	0.05008	0.2376267	1.16765892125419E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.14	-0.32	0.12090	1.144000	0.31177	0.776000	0.21438	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.6051:0.1206:0.2743:0.0	6.304	0.20337	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3347.43	34	chr4	154235038	.	A	G	3347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.849;DP=570;ExcessHet=0;FS=5.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.771;SOR=0.442	GT:AD:DP:GQ:PL	0/1:128,123:251:99:3359,0,3392	9	0	1	0
chr4	154240817	154240817	A	G	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon18:c.T7079C:p.L2360S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0074114254101	.	.	0.0001	0	0	0	0	0.0002	0.0011	0	0.0001164	18	154602	rs549518705	0.0001	0.0001	0.0001	0.0001	0.0023	9.608e-05	9.087e-05	0.0013	0.0011	0.0002	0.0004	0.0002	0	0	0.0023	9.625e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.16e-05	6.718e-05	0.0001	7.893e-05	0	0	0.0001	0	0	0	0.0136	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.661962	0.10419	N	0.827038	0.986281	0.24631	N	.	.	.	.	.	.	.	.	.	.	.	-1.0718	0.09022	T	0.082	0.32295	T	10	0.09973335	0.18118	T	0.007411	0.19657	T	0.050	0.13987	.	.	.	.	0.08087195601267189	0.08022	0.35636978624	0.37383	0.325476944447	0.14250	T	.	.	.	-0.364643	0.03874	T	-0.464001	0.26165	T	0.31317737698555	0.25544	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18869	B	.	.	2.289873	0.29290	18.07	0.97248493084266829	0.33029	0.56576	0.30152	D	AEFDGI	0.080341	0.16241	N	-0.175265265011755	0.34167	1.946926	-0.011088863064998	0.39213	2.321622	0.0912743737151783	0.16130	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.63	0.40741	2.133000	0.41716	4.690000	0.44360	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.656:0.0:0.344:0.0	6.399	0.20831	744	0.52588	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1161.43	40	chr4	154240817	.	A	G	1161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.08;DP=451;ExcessHet=0;FS=2.038;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.542;SOR=0.486	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1173,0,1080	9	0	1	0
chr4	154332969	154332969	G	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon5:c.C3239T:p.P1080L,DCHS2:NM_001358235:exon5:c.C3239T:p.P1080L	.	.	.	.	.	.	.	.	.	.	.	2357213	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.0530539833478	.	.	4.122e-05	0	0	0	0	6.002e-05	0	6.056e-05	3.23e-05	5	154602	rs755977541	4.925e-05	4.925e-05	5.173e-05	4.675e-05	0.0010	3.992e-05	3.669e-05	0.0005	0.0003	2.987e-05	0.0004	0.0003	0	0	0.0010	2.968e-05	0.0001	1.159e-05	9.192e-05	9.186e-05	0.0001	8.057e-05	0.0001	5.523e-05	4.361e-05	6.804e-05	5.087e-05	0	0	6.533e-05	0	0	0	0.0136	0.0001	0	0	0.123	0.27544	T	0.272	0.22223	T	.	.	.	.	.	.	0.561593	0.11330	N	0.785318	0.999997	0.19072	N	.	.	.	0.15	0.60734	T	-3.14	0.64019	D	0.268	0.30347	-0.8104	0.54526	T	0.224	0.58843	T	10	0.14758956	0.27963	T	0.053054	0.65316	D	0.139	0.37390	.	.	0.409398589964	0.40557	0.2693377892361353	0.26846	0.0744065334722	0.08345	0.3474624753	0.17548	T	.	.	.	-0.320809	0.06832	T	-0.401037	0.33264	T	0.117237530648708	0.14157	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14614	B	.;.	.;.	2.376118	0.30495	18.45	0.63837951761771605	0.07330	0.68991	0.34013	D	AEFDGBCI	0.250493	0.37053	N	-0.503365745774984	0.21970	1.169874	-0.520240711574279	0.21604	1.169493	0.999880275062564	0.44867	0.455138	0.09556	0	0.609123	0.50646	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	5.43	2.72	0.31179	3.077000	0.49787	5.140000	0.47705	-0.119000	0.14319	0.931000	0.32310	1.000000	0.68203	0.078000	0.17132	0.1362:0.1237:0.7401:0.0	8.873	0.34486	742	0.52873	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	0.002014	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1930.43	35	chr4	154332969	.	G	A	1930.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.173;DP=608;ExcessHet=0;FS=1.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-1.074;SOR=0.681	GT:AD:DP:GQ:PL	0/1:114,78:192:99:1942,0,3114	9	0	1	0
chr4	158868374	158868374	C	T	exonic	FNIP2	.	nonsynonymous SNV	FNIP2:NM_001346043:exon12:c.C676T:p.P226S,FNIP2:NM_001323916:exon13:c.C1807T:p.P603S,FNIP2:NM_020840:exon13:c.C1738T:p.P580S,FNIP2:NM_001366843:exon14:c.C1897T:p.P633S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	8e-05	0.000599042	0.0028	0	0	0.0001	0.0328	0.0016	0.0089	0	0.0021798	337	154602	rs188016133	0.0012	0.0012	0.0012	0.0011	0.0001	0.0011	0.0011	9.612e-05	8.959e-05	0	2.236e-05	3.826e-05	0	0.0286	0	0.0001	0.0013	8.116e-05	0.0023	0.0023	0.0011	0.0035	0.0010	0.0021	0.0020	0.0004	0.0002	0	0	0	0	0.0010	0.0293	0	0.0003	0.0019	0.0002	0.033	0.50676	D	0.215	0.45318	T	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999987	0.54805	D	2.745	0.80253	M	1.55	0.37910	T	-2.55	0.55181	D	0.337	0.37820	-0.6923	0.60801	T	0.256	0.62643	T	8	0.0073673725	0.00167	T	.	.	.	0.181	0.45247	.	.	0.232442253697	0.22838	0.4399152827993472	0.43908	0.630294044216	0.57025	0.515405356884	0.40980	T	0.024613	0.19153	T	-0.324789	0.06513	T	-0.279847	0.46820	T	0.14649763561385	0.16822	T	0.907909	0.67446	D	0.106056064	0.25077	0.1584008	0.36993	0.106056064	0.25077	0.1584008	0.36992	-2.847	0.08624	T	.	.	0.236	0.46938	B	.;.	.;.	3.219769	0.43859	21.8	0.99923495115647143	0.98917	0.99652	0.98359	D	AEFBI	0.734335	0.68050	D	0.726034962539294	0.81337	7.499066	0.681880086748359	0.81006	7.426479	0.999999999948616	0.74766	0.615465	0.37627	0	0.667123	0.63270	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.84	5.84	0.93373	7.043000	0.76293	5.996000	0.52409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:1.0:0.0:0.0	20.200	0.98258	867	0.32089	Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2028.43	35	chr4	158868374	.	C	T	2028.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.617;DP=448;ExcessHet=0;FS=4.031;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-0.156;SOR=0.578	GT:AD:DP:GQ:PL	0/1:64,75:139:99:2040,0,1732	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	495.27	103	chr4	176711629	.	G	C	495.27	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.125;DP=738;ExcessHet=2.8389;FS=92.991;InbreedingCoeff=-0.355;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.696;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,18:103:99:0|1:176711629_G_C:151,0,3154:176711629	5	0	5	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|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3889	630.24	103	chr4	176711631	.	G	C	630.24	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-1.638;DP=842;ExcessHet=7.0302;FS=94.732;InbreedingCoeff=-0.6311;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.219;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,18:103:99:0|1:176711629_G_C:151,0,3154:176711629	2	0	7	1
chr4	183694013	183694013	T	C	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon22:c.T2483C:p.V828A,TRAPPC11:NM_199053:exon22:c.T2483C:p.V828A	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	426	1075	18	3	0	24	0.0110396	.	.	.	251423	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18|not_specified	MedGen:C3661900|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0081	0.00459265	0.0083	0.0022	0.0041	0	0.0112	0.0117	0.0088	0.0050	0.0083246	1287	154602	rs75176151	0.0098	0.0098	0.0097	0.0099	0.0110	0.0097	0.0096	0.0108	0.0107	0.0019	0.0054	0.0075	0	0.0086	0.0102	0.0110	0.0096	0.0066	0.0077	0.0077	0.0076	0.0078	0.0107	0.0073	0.0072	0.0101	0.0098	0.0021	0.0340	0.0081	0.0060	0	0.0115	0.0136	0.0107	0.0095	0.0070	0.009	0.57480	D	0.111	0.58613	T	0.165	0.44271	B	0.055	0.44933	B	0.000196	0.48115	D	0.143151	0.999898	0.50595	D	1.39	0.34934	L	.	.	.	-1.24	0.39692	N	0.556	0.58117	-0.7910	0.55671	T	0.157	0.48858	T	9	0.008762926	0.00198	T	.	.	.	0.076	0.22200	.	.	0.443695250439	0.43992	0.47742318771740505	0.47662	0.305917097717	0.32891	0.308522045612	0.11683	T	0.043789	0.26613	T	-0.444555	0.01216	T	-0.400961	0.33271	T	0.0228264379669178	0.01003	T	0.884911	0.61335	D	0.077215865	0.17513	0.11991077	0.28941	0.095509425	0.22479	0.13256696	0.31808	-8.326	0.63552	D	0.31311039729637674	0.41105	0.160	0.35992	B	.;.;.	.;.;.	3.106314	0.41883	21.4	0.99694055035843987	0.80112	0.99276	0.93823	D	AEFBI	0.835047	0.75301	D	0.167404169511582	0.49640	3.162047	0.265128046738744	0.53514	3.519996	0.999999895748678	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	5.78	5.78	0.91418	8.017000	0.88732	3.511000	0.38840	0.665000	0.62972	0.986000	0.36153	0.564000	0.25536	0.717000	0.34675	0.0:0.0:0.0:1.0	16.100	0.80972	855	0.34697	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.006793	0.000000	0.000000	0.017241	0.003049	0.011364	0.1	3823.14	38	chr4	183694013	.	T	C	3823.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.392;DP=626;ExcessHet=0.2348;FS=1.817;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.019;SOR=0.805	GT:AD:DP:GQ:PL	0/1:88,80:168:99:1935,0,2279	8	0	2	0
chr4	186105585	186105585	C	G	exonic	FAM149A	.	nonsynonymous SNV	FAM149A:NM_001367768:exon1:c.C509G:p.T170R	.	410	1095	16	1	0	18	0.00815217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0650230218563	.	0.00179712	0	0	.	.	.	0	.	0	0.0004226	11	26028	rs568591648	0.0005	0.0004	0.0003	0.0007	0.0102	0.0005	0.0005	0.0094	0.0090	6.168e-05	0	0	0	0	0.0033	4.957e-05	0.0011	0.0102	0.0003	0.0003	0.0002	0.0005	0.0077	0.0003	0.0002	0.0057	0.0050	0	0	0.0001	0	0	0	0	0.0001	0.0005	0.0077	0.001	0.78490	D	0.088	0.40586	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0.805	0.20218	L	2.58	0.13434	T	-1.1	0.28497	N	0.495	0.52829	-1.1704	0.00532	T	0.056	0.23565	T	6	0.0096589625	0.00217	T	0.065023	0.69454	D	0.133	0.36157	0.274	0.22528	0.354610295913	0.35065	.	.	.	.	.	.	.	0.007428	0.06836	T	-0.0358462	0.46564	T	-0.289267	0.45849	T	0.649341158460043	0.38434	D	0.488951	0.15001	T	0.11536016	0.27223	0.19542763	0.43218	0.11536016	0.27223	0.19542763	0.43217	-3.099	0.11285	T	.	.	0.191	0.41063	B	.	.	3.327184	0.45789	22.2	0.98813431320627054	0.46655	0.33258	0.24785	N	AEFDBI	0.150836	0.27520	N	-0.0758640481542174	0.38454	2.252404	-0.117569785511647	0.34682	1.997741	0.999965315919444	0.48965	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.05	4.2	0.48814	0.312000	0.19147	2.072000	0.30448	0.459000	0.21562	0.000000	0.06391	0.007000	0.19602	0.156000	0.20513	0.0:0.8953:0.0:0.1047	8.444	0.31992	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	468.43	33	chr4	186105585	.	C	G	468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.853;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.714;SOR=0.576	GT:AD:DP:GQ:PL	0/1:30,24:54:99:480,0,760	9	0	1	0
chr4	186618051	186618051	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.G8535A:p.M2845I	.	437	1076	8	1	0	10	0.00462535	.	.	.	709288	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.043	0.00525293207678	0.0031	0.000599042	0.0027	0.0005	0.0019	0	0.0005	0.0041	0.0056	0.0012	0.0026067	403	154602	rs138948513	0.0029	0.0029	0.0028	0.0029	0.0038	0.0028	0.0028	0.0026	0.0025	0.0001	0.0019	0.0317	0	0.0003	0.0038	0.0026	0.0044	0.0013	0.0026	0.0026	0.0027	0.0025	0.0031	0.0024	0.0023	0.0025	0.0024	0.0006	0	0.0031	0.0328	0	0.0003	0.0034	0.0028	0.0033	0.0006	0.047	0.40319	D	0.219	0.25987	T	0.0	0.02946	B	0.003	0.08700	B	0.110024	0.19459	N	0.595450	0.990862	0.24114	N	-0.415	0.02918	N	0.74	0.50459	T	-0.75	0.21003	N	0.078	0.06059	-1.0695	0.09523	T	0.043	0.18576	T	10	0.011210442	0.00246	T	0.005253	0.13402	T	0.043	0.11576	0.43	0.47843	0.27132560031	0.26736	0.12022670813363842	0.11949	0.106771979007	0.12062	0.312404096127	0.12270	T	0.09343	0.39209	T	-0.599756	0.00146	T	-0.638276	0.09796	T	0.00361396936645843	0.00038	T	0.637336	0.25103	T	0.123832844	0.29069	0.12070323	0.29128	0.12337377	0.28971	0.11619297	0.28049	-2.084	0.03516	T	.	.	0.159	0.35098	B	.;.	.;.	1.350602	0.17583	13.25	0.9571054709978154	0.27618	0.55025	0.29761	D	AEFDBCI	0.117762	0.23056	N	-0.660860733478906	0.17144	0.8797289	-0.510065658348824	0.21879	1.185729	0.999979589567119	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.668105	0.65232	0	.	.	4.86	2.97	0.33479	0.222000	0.17482	0.239000	0.16284	0.599000	0.40250	0.966000	0.33990	0.267000	0.24023	0.234000	0.22842	0.2112:0.4363:0.2644:0.0881	3.139	0.06063	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.010101	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	2513.43	142	chr4	186618051	.	C	T	2513.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=1196;ExcessHet=0;FS=13.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.944;SOR=0.704	GT:AD:DP:GQ:PL	0/1:101,90:191:99:2525,0,2767	9	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.4	523.98	19	chr4	189953101	.	C	T	523.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.414;DP=145;ExcessHet=10.3881;FS=0.939;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=52.97;MQRankSum=-2.362;QD=4.52;ReadPosRankSum=0.851;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,2:20:30:0|1:189953101_C_T:30,0,721:189953101	2	0	8	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	503.01	15	chr4	189953126	.	G	T	503.01	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.366;DP=136;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6672;MLEAC=8;MLEAF=0.4;MQ=52.73;MQRankSum=-2.287;QD=4.57;ReadPosRankSum=0.492;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,2:18:36:0|1:189953101_C_T:36,0,666:189953101	2	0	8	0
chr5	169474	169474	A	G	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon14:c.A3611G:p.H1204R	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	.	0.0016	0.0091853	0.0064	0.0042	0.0008	0.0020	0	7.5e-05	0.0033	0.0426	0.0055239	854	154602	rs61750331	0.0027	0.0027	0.0015	0.0039	0.0398	0.0026	0.0026	0.0387	0.0383	0.0032	0.0007	0	0.0017	0	0.0009	8.543e-05	0.0036	0.0398	0.0025	0.0025	0.0018	0.0032	0.0421	0.0023	0.0022	0.0374	0.0355	0.0039	0	0.0004	0	0.0012	0	0	8.819e-05	0	0.0421	1.0	0.00964	T	1.0	0.01155	T	0.03	0.20002	B	0.02	0.19048	B	.	.	.	.	0.989976	0.24230	N	-2.07	0.00169	N	0.08	0.61559	T	1.37	0.00867	N	0.16	0.16725	-0.9985	0.30339	T	0.027	0.11397	T	9	0.0026985705	0.00042	T	.	.	.	0.218	0.51265	.	.	0.225902525712	0.22197	0.32225822215449323	0.32138	0.0999883255849	0.11303	0.264199435711	0.05401	T	0.040859	0.25665	T	-0.550711	0.00289	T	-0.533848	0.18904	T	0.00788626651126651	0.00093	T	0.815518	0.47040	T	0.028916806	0.02304	0.042368334	0.05031	0.028916806	0.02303	0.042368334	0.05030	-0.158	0.00410	T	.	.	0.075	0.05360	B	.;.	.;.	0.794125	0.11644	8.231	0.29920102873735588	0.01611	0.13629	0.17964	N	AEFDBHCIJ	0.045823	0.07537	N	-1.17976520588638	0.05306	0.2415864	-1.0481916977212	0.08745	0.4314519	0.999999987070736	0.74766	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.41	0.437	0.15767	5.306000	0.65546	0.080000	0.14378	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.052000	0.15357	0.361:0.0:0.639:0.0	6.780	0.22827	912	0.21483	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.002924	0.050000	0.000000	0.006098	0.003788	0.05	1869.43	36	chr5	169474	.	A	G	1869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.852;DP=503;ExcessHet=0;FS=1.163;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.979;SOR=0.772	GT:AD:DP:GQ:PL	0/1:95,84:179:99:1881,0,2474	9	0	1	0
chr5	447695	447695	G	A	exonic	EXOC3	.	nonsynonymous SNV	EXOC3:NM_007277:exon3:c.G307A:p.V103M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.00873199552043	.	.	7.429e-05	0	0	0	0.0004	9.296e-05	0	0	1.94e-05	3	154602	rs764599617	1.042e-05	1.231e-05	1.515e-05	5.605e-06	3.033e-05	6.26e-06	4.96e-06	1.33e-06	9.7e-07	3.033e-05	0	0	0	9.645e-05	0	4.542e-06	6.712e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.188	0.28669	T	.	.	.	.	.	.	0.000001	0.84330	N	0.055564	1	0.81001	D	.	.	.	3.1	0.08283	T	0.33	0.03889	N	0.768	0.76573	-1.0365	0.18388	T	0.022	0.09147	T	10	0.51076335	0.62083	D	0.008732	0.23050	T	0.253	0.56294	.	.	0.213499824651	0.20940	0.46923261709173214	0.46842	1.37614566276	0.84668	0.719993531704	0.70046	T	.	.	.	-0.0449479	0.45212	T	-0.302341	0.44477	T	0.323862814778362	0.25978	T	0.894311	0.63332	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.60437	A	.;.	.;.	2.983829	0.39815	21.0	0.99486058922603338	0.67180	0.97271	0.73709	D	AEFGBCI	0.908202	0.86319	D	0.260081462918762	0.54140	3.580293	0.38075153673705	0.60377	4.224786	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.557000	0.97237	9.684000	0.81253	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.0:0.0:1.0:0.0	16.948	0.86107	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	838.43	34	chr5	447695	.	G	A	838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.768;DP=395;ExcessHet=0;FS=0.821;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.807;SOR=0.641	GT:AD:DP:GQ:PL	0/1:49,37:86:99:850,0,1164	9	0	1	0
chr5	1293561	1293563	TCC	-	exonic	TERT	.	nonframeshift deletion	TERT:NM_001193376:exon2:c.1323_1325del:p.E441del,TERT:NM_198253:exon2:c.1323_1325del:p.E441del	.	1	1516	5	0	0	5	0.00164636	.	.	.	207165	TERT-related_disorder|Interstitial_lung_disease_2|Dyskeratosis_Congenita,_Recessive|Aplastic_anemia|Dyskeratosis_congenita,_autosomal_dominant_2|Melanoma,_cutaneous_malignant,_susceptibility_to,_9|Acute_myeloid_leukemia|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_1|Idiopathic_Pulmonary_Fibrosis|not_provided|not_specified|Hepatoblastoma|Dyskeratosis_congenita	.|MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|MedGen:CN239315|Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88|MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989|MONDO:MONDO:0014056,MedGen:C3554574,OMIM:615134,Orphanet:618|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0013878,MedGen:C3553617,OMIM:614742,Orphanet:88|MeSH:D054990,MedGen:C1800706|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.000798722	0.0006	0	0	0	0.0333	0.0014	0	0.0001	0.0003687	57	154602	rs377639087	0.0030	0.0029	0.0031	0.0029	0.0037	0.0029	0.0029	0.0036	0.0036	0.0006	0.0004	0.0013	0	0.0005	0.0030	0.0037	0.0017	5.039e-05	0.0023	0.0023	0.0026	0.0020	0.0039	0.0021	0.0020	0.0036	0.0034	0.0006	0.0308	0.0006	0.0017	0	0.0007	0.0068	0.0039	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004287	0.005376	0.007225	0.003125	0.000000	0.000000	0.003378	0.007874	0.05	1313.39	38	chr5	1293560	.	GTCC	G	1313.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=427;ExcessHet=0;FS=1.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=0.252;SOR=0.569	GT:AD:DP:GQ:PL	0/1:45,35:80:99:1325,0,1784	9	0	1	0
chr5	32074045	32074045	G	C	exonic	PDZD2	.	nonsynonymous SNV	PDZD2:NM_178140:exon18:c.G2939C:p.G980A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00818661637264	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs751864518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.032	0.53426	D	0.952	0.54136	P	0.368	0.43478	B	0.412452	0.12978	N	0.697167	1	0.08975	N	2.175	0.60977	M	3.16	0.07711	T	-2.5	0.54382	D	0.092	0.07125	-0.9985	0.30339	T	0.018	0.07518	T	10	0.1282404	0.24393	T	0.008187	0.21700	T	0.040	0.10527	.	.	0.351146185902	0.34720	0.22408930978556213	0.22323	0.53408203819	0.50830	0.298408329487	0.10165	T	0.250893	0.62106	T	-0.286187	0.10021	T	-0.648864	0.09034	T	0.571346163749695	0.35286	D	0.59804	0.22252	T	0.08764286	0.20418	0.11369934	0.27442	0.08764286	0.20417	0.11369934	0.27441	-3.839	0.21388	T	.	.	0.110	0.21163	B	.	.	1.975734	0.25099	16.64	0.98302064691583824	0.40058	0.53691	0.29433	D	AEFGBI	0.105445	0.21069	N	-0.411892288687503	0.25051	1.357085	-0.374999578545715	0.25745	1.417667	0.958565693491427	0.28371	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.78	3.02	0.33970	1.431000	0.34534	3.472000	0.38588	-0.105000	0.15698	0.901000	0.31451	0.999000	0.35428	0.834000	0.39329	0.1524:0.2851:0.5624:0.0	6.412	0.20901	703	0.57489	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1829.43	34	chr5	32074045	.	G	C	1829.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=479;ExcessHet=0;FS=1.956;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.646;SOR=0.856	GT:AD:DP:GQ:PL	0/1:86,75:161:99:1841,0,2091	9	0	1	0
chr5	33576511	33576511	C	T	exonic	ADAMTS12	.	nonsynonymous SNV	ADAMTS12:NM_001324512:exon17:c.G3260A:p.S1087N,ADAMTS12:NM_030955:exon19:c.G3515A:p.S1172N	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00747581967808	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328464475	4.112e-06	4.104e-06	1.364e-06	6.889e-06	0.0003	1.48e-06	9.7e-07	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	2.701e-06	0	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.07846	T	0.515	0.10643	T	0.0	0.07471	B	0.001	0.10090	B	0.432705	0.12728	N	0.764469	1	0.08975	N	0.14	0.08730	N	0.33	0.58613	T	-0.61	0.18042	N	0.042	0.03175	-1.0268	0.21494	T	0.066	0.27121	T	10	0.037249774	0.02068	T	0.007476	0.19846	T	0.021	0.04004	0.156	0.05964	0.386395597597	0.38251	0.16334407868791126	0.16254	0.135519138639	0.15275	0.291556358337	0.09149	T	0.044152	0.26727	T	-0.3125	0.07530	T	-0.686661	0.06585	T	0.0116857485845685	0.00179	T	0.481652	0.14579	T	0.042792626	0.06553	0.0453785	0.06091	0.042792626	0.06553	0.0453785	0.06091	-3.629	0.19156	T	.	.	0.054	0.01059	B	.;.	.;.	-0.294463	0.02641	0.334	0.50956463067713242	0.04476	0.01373	0.04685	N	AEFBI	0.038814	0.05549	N	-1.35283086802578	0.03096	0.1377473	-1.31572601383802	0.04226	0.1989171	0.638471793610344	0.22031	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.28	-0.802	0.10340	-0.213000	0.09309	0.042000	0.13882	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.1403:0.2255:0.0:0.6342	6.027	0.18888	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	3568.43	35	chr5	33576511	.	C	T	3568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.912;DP=563;ExcessHet=0;FS=2.193;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.316;SOR=0.853	GT:AD:DP:GQ:PL	0/1:119,125:244:99:3580,0,3152	9	0	1	0
chr5	33643454	33643454	A	T	exonic	ADAMTS12	.	nonsynonymous SNV	ADAMTS12:NM_001324512:exon10:c.T1496A:p.L499Q,ADAMTS12:NM_030955:exon10:c.T1496A:p.L499Q	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	0.116430654372	0.0024	0.00179712	0.0023	0.0005	0.0009	0	0.0029	0.0035	0.0044	0.0003	0.0022768	352	154602	rs61753558	0.0023	0.0023	0.0022	0.0023	0.0025	0.0022	0.0022	0.0024	0.0024	0.0003	0.0014	0.0053	0	0.0022	0.0016	0.0025	0.0027	0.0005	0.0023	0.0023	0.0023	0.0023	0.0037	0.0021	0.0020	0.0034	0.0032	0.0003	0	0.0015	0.0066	0.0002	0.0024	0	0.0037	0.0028	0.0012	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	0.999868	0.50061	D	4.155	0.97600	H	-0.44	0.69777	T	-5.27	0.84882	D	0.92	0.92317	0.328	0.87993	D	0.516	0.81869	D	10	0.08228898	0.13565	T	0.116431	0.79592	D	0.805	0.93660	.	.	0.904685542141	0.90373	0.9318090597597621	0.93159	0.654802155961	0.58547	0.708671867847	0.68401	T	0.505594	0.82416	D	0.075206	0.61475	D	0.336205	0.89762	D	0.135114829712475	0.15846	T	0.96937	0.91493	D	0.9226822	0.93509	0.89421654	0.94566	0.9226822	0.93510	0.89421654	0.94566	-13.679	0.93108	D	.	.	0.975	0.90205	P	.;.	.;.	4.871679	0.79818	27.2	0.99288563900625548	0.58184	0.99190	0.92559	D	AEFGBI	0.931258	0.91980	D	0.909787100098728	0.92232	11.30592	0.826238563450125	0.91555	10.94668	0.999999999999941	0.74766	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.57	5.57	0.84021	9.102000	0.93579	11.199000	0.88958	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	15.724	0.77506	855	0.34697	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1971.43	79	chr5	33643454	.	A	T	1971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.947;DP=778;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.52;SOR=0.585	GT:AD:DP:GQ:PL	0/1:97,81:178:99:1983,0,2517	9	0	1	0
chr5	37333633	37333633	T	G	exonic	NUP155	.	nonsynonymous SNV	NUP155:NM_001278312:exon13:c.A1348C:p.M450L,NUP155:NM_004298:exon13:c.A1171C:p.M391L,NUP155:NM_153485:exon13:c.A1348C:p.M450L	.	.	.	.	.	.	.	.	0.0117	0.132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.36113	T	0.137	0.33894	T	0.016	0.20002	B	0.02	0.20792	B	0.000000	0.84330	D	0.036930	0.999971	0.53665	D	0.585	0.15399	N	1.02	0.40749	T	-0.75	0.21644	N	0.717	0.71942	-1.0539	0.13332	T	0.085	0.33099	T	10	0.4709562	0.59858	T	0.010798	0.27747	T	0.178	0.44724	0.463	0.53242	0.446108141197	0.44232	0.40837614357768665	0.40753	0.136873454913	0.15434	0.720158219337	0.70070	T	0.306785	0.67897	T	0.0419508	0.57301	T	-0.177517	0.56752	T	0.778524339199066	0.44959	D	0.914708	0.69569	D	0.21701255	0.44174	0.17242102	0.39496	0.21701255	0.44174	0.17242102	0.39495	-2.003	0.04153	T	.	.	0.162	0.38281	B	.;.;.	.;.;.	3.378159	0.46710	22.3	0.93209731230215165	0.22883	0.98791	0.86901	D	AEFBI	0.784376	0.71508	D	-0.165166989445453	0.34591	1.976	-0.00387198892159416	0.39541	2.345959	0.999974535101336	0.50053	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	5.925000	0.69783	7.726000	0.67550	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.620000	0.31896	0.0:0.0751:0.0:0.9249	10.058	0.41429	174	0.93268	Nucleoporin, Nup133/Nup155-like, N-terminal;.;Nucleoporin, Nup133/Nup155-like, 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	.	.	.	.	.	.	.	.	0.05	429.43	39	chr5	37333633	.	T	G	429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.289;DP=335;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.831;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,16:31:99:1|0:37333625_A_G:441,0,582:37333625	9	0	1	0
chr5	41000689	41000689	T	C	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon38:c.A4339G:p.K1447E	.	421	1099	2	0	0	2	0.000909091	.	.	.	2343801	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.00860564876133	.	.	0.0002	0.0001	0	0	0	1.754e-05	0	0.0012	0.0001035	16	154602	rs780611554	6.855e-05	6.909e-05	3.273e-05	0.0001	0.0011	5.725e-05	5.337e-05	0.0009	0.0008	5.996e-05	0	0	0	0	0.0005	0	3.32e-05	0.0011	2.63e-05	2.627e-05	2.57e-05	2.692e-05	0.0006	8.15e-06	5.14e-06	0.0002	9.022e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.99	0.02825	T	0.175	0.30631	T	0.843	0.46605	P	0.479	0.47059	P	0.095523	0.20119	N	0.481862	0.922558	0.27258	N	1.69	0.43327	L	0.25	0.59449	T	0.11	0.05706	N	0.368	0.42541	-0.9909	0.32373	T	0.119	0.41778	T	10	0.04738739	0.04051	T	0.008606	0.22755	T	0.198	0.48105	0.353	0.35246	0.17948927462	0.17512	0.16060539175108976	0.15981	0.0234322222291	0.02374	0.445960283279	0.31392	T	0.001855	0.01270	T	-0.32231	0.06711	T	-0.296351	0.45107	T	0.933140456676483	0.59967	D	0.720728	0.33361	T	0.084430605	0.19541	0.10888649	0.26236	0.084430605	0.19541	0.10888649	0.26236	-4.67	0.33039	T	.	.	0.093	0.14201	B	.;.	.;.	3.295831	0.45225	22.1	0.99180618452599856	0.54672	0.59726	0.30995	D	AEFDGBI	0.152666	0.27739	N	0.0486178316055715	0.44080	2.688557	0.154470082940626	0.47379	2.969052	0.27514033220544	0.18932	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	4.43	0.52967	1.059000	0.30127	3.425000	0.38278	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1798:0.8202	9.370	0.37408	510	0.75209	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	798.43	35	chr5	41000689	.	T	C	798.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.432;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.113;SOR=0.794	GT:AD:DP:GQ:PL	0/1:35,32:67:99:810,0,914	9	0	1	0
chr5	41069719	41069719	A	G	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon2:c.T62C:p.M21T	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00802609404047	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229085483	6.87e-07	2.736e-06	0	1.382e-06	9.021e-07	0	0	.	.	0	0	0	0	0	0	9.021e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.283	0.21478	T	0.017	0.17573	B	0.008	0.13708	B	0.054915	0.22685	N	0.397080	0.992095	0.23936	N	1.6	0.40776	L	5.23	0.01143	T	-0.26	0.11185	N	0.296	0.33469	-0.8920	0.48758	T	0.003	0.00800	T	10	0.16036585	0.30108	T	0.008026	0.21290	T	0.068	0.19811	0.316	0.29258	0.0138822411134	0.00435	0.4913855018494086	0.49059	0.0236976023057	0.02403	0.596883535385	0.52465	T	0.003288	0.02698	T	-0.164853	0.26016	T	-0.474577	0.25023	T	0.555659174919128	0.34690	D	0.505249	0.15946	T	0.2736368	0.50431	0.19534466	0.43206	0.2736368	0.50431	0.19534466	0.43205	-3.385	0.14855	T	.	.	0.268	0.50194	B	.	.	2.675028	0.34885	19.75	0.98128529360723882	0.38498	0.74791	0.36596	D	AEFI	0.195652	0.32268	N	-0.198765660527057	0.33186	1.879923	0.0482941933226342	0.41988	2.532034	0.0389808572417734	0.14373	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.16	5.02	0.66742	2.800000	0.47595	6.086000	0.53397	0.756000	0.94297	0.978000	0.35038	1.000000	0.68203	0.968000	0.53726	0.9147:0.0:0.0853:0.0	8.298	0.31158	425	0.81160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	966.43	68	chr5	41069719	.	A	G	966.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.274;DP=535;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-1.142;SOR=0.737	GT:AD:DP:GQ:PL	0/1:56,45:101:99:978,0,1406	9	0	1	0
chr5	53107115	53107115	G	C	exonic	MOCS2	.	nonsynonymous SNV	MOCS2:NM_176806:exon3:c.C247G:p.P83A	Molybdenum cofactor deficiency B, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.144725194482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	.	.	.	.	1	0.81001	D	.	.	.	-2.42	0.88611	D	-7.43	0.94843	D	0.878	0.87699	0.442	0.89722	D	0.756	0.91679	D	8	0.9617568	0.95594	D	0.144725	0.82696	D	0.817	0.94123	0.826	0.93721	0.891418545996	0.89034	.	.	.	.	0.621587276459	0.55954	T	0.426682	0.77640	T	0.317245	0.84277	D	0.217924	0.84072	D	0.885202586650848	0.53551	D	0.794521	0.43681	T	.	.	.	.	.	.	.	.	-10.447	0.76542	D	0.8047433264301003	0.88082	0.760	0.75508	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.339210	0.17456	13.17	0.99635289946608907	0.76326	0.99361	0.95020	D	AEFDBI	0.861435	0.77950	D	0.7194726764261	0.80910	7.400012	0.764040263152242	0.87204	9.141561	0.999999999999674	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	6.02	6.02	0.97559	7.961000	0.87447	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.0:0.0:1.0:0.0	20.541	0.99263	850	0.35610	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	696.43	34	chr5	53107115	.	G	C	696.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.257;SOR=0.697	GT:AD:DP:GQ:PL	0/1:33,31:64:99:708,0,749	9	0	1	0
chr5	53484188	53484188	C	G	exonic	FST	.	nonsynonymous SNV	FST:NM_006350:exon4:c.C616G:p.L206V,FST:NM_013409:exon4:c.C616G:p.L206V	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.0180602747225	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs774094121	6.16e-06	6.841e-06	4.086e-06	8.254e-06	0.0001	2.9e-06	2.1e-06	5.396e-05	4.042e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02048	T	0.273	0.22154	T	0.294	0.32391	B	0.413	0.44885	B	0.000000	0.84330	D	0.054942	1	0.81001	D	-1.01	0.01154	N	4.92	0.01404	T	0.18	0.05035	N	0.492	0.52563	-0.7997	0.55162	T	0.004	0.01125	T	10	0.24646837	0.41912	T	0.01806	0.39994	T	0.207	0.49555	0.501	0.59304	0.34333109794	0.33943	0.6509073472958219	0.65026	1.78295362445	0.91415	0.595003962517	0.52200	T	0.231765	0.59816	T	-0.37398	0.03398	T	-0.538305	0.18463	T	0.33492186665535	0.26421	T	0.943106	0.78551	D	0.23635122	0.46483	0.14890479	0.35179	0.23635122	0.46483	0.14890479	0.35178	-5.532	0.42416	T	.	.	0.119	0.27998	B	.;.;.	.;.;.	2.584100	0.33511	19.36	0.98083690592728456	0.38125	0.88061	0.47827	D	AEFDGBCI	0.559574	0.56833	D	-0.507931128466055	0.21823	1.160951	-0.28880374088934	0.28466	1.587421	0.999999999781978	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	6.17	4.37	0.51830	3.993000	0.56699	4.878000	0.45637	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.2495:0.7505:0.0:0.0	15.764	0.77876	856	0.34373	Kazal domain|Kazal domain|Kazal domain;.;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1514.43	35	chr5	53484188	.	C	G	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.56;DP=434;ExcessHet=0;FS=1.498;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.371;SOR=0.539	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1526,0,1433	9	0	1	0
chr5	73909530	73909530	C	G	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon26:c.C3341G:p.S1114C,ARHGEF28:NM_001080479:exon34:c.C4280G:p.S1427C,ARHGEF28:NM_001177693:exon34:c.C4280G:p.S1427C	.	426	1086	9	1	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00497760331906	.	.	0.0003	0	0	0	0	7.08e-05	0	0.0013	0.0001164	18	154602	rs757057591	7.472e-05	7.524e-05	3.435e-05	0.0001	0.0010	6.319e-05	5.873e-05	0.0008	0.0008	0	0	0	0	1.936e-05	0.0003	1.449e-05	5.011e-05	0.0010	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	0.058	0.40068	T	0.181	0.40110	T	0.001	0.15093	B	0.012	0.16012	B	.	.	.	.	0.999855	0.20249	N	1.095	0.27400	L	1.96	0.22270	T	-2.83	0.59710	D	0.127	0.12055	-0.9800	0.35002	T	0.032	0.13723	T	9	0.013027549	0.00278	T	0.004978	0.12566	T	0.033	0.08068	0.237	0.16760	0.0666544352282	0.05500	0.10015718809577799	0.09946	0.0689527278805	0.07720	0.290875166655	0.09050	T	0.133111	0.46359	T	-0.564479	0.00239	T	-0.644209	0.09365	T	0.0300075871527355	0.01990	T	0.69953	0.33490	T	0.08253104	0.19017	0.086306445	0.19986	0.08253104	0.19017	0.086306445	0.19986	-4.049	0.26592	T	.	.	0.071	0.05979	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.185632	0.05725	2.170	0.80065317674279401	0.13028	0.14393	0.18379	N	AEFDBI	0.139129	0.26063	N	-1.10787318017493	0.06502	0.2994971	-1.19341516494332	0.06019	0.2884928	0.999878075243496	0.44625	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.78	-4.78	0.02975	0.120000	0.15476	-1.395000	0.05540	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.2957:0.4876:0.2167:0.0	10.277	0.42692	800	0.44535	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1924.43	36	chr5	73909530	.	C	G	1924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.839;DP=478;ExcessHet=0;FS=6.913;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.07;SOR=0.359	GT:AD:DP:GQ:PL	0/1:81,80:161:99:1936,0,2101	9	0	1	0
chr5	76195023	76195023	G	A	exonic	SV2C	.	nonsynonymous SNV	SV2C:NM_001297716:exon3:c.G685A:p.G229R,SV2C:NM_014979:exon3:c.G685A:p.G229R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.720	0.0903146259498	.	.	8.281e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs780371830	7.525e-06	7.524e-06	8.168e-06	6.876e-06	2.519e-05	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	0	3.827e-05	2.519e-05	0	0	8.094e-06	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.031	0.54159	D	0.938	0.52538	P	0.751	0.56062	P	0.000000	0.84330	D	0.052716	1	0.81001	D	3.145	0.88303	M	-0.82	0.74053	T	-2.4	0.54702	N	0.879	0.87699	0.298	0.87534	D	0.579	0.84822	D	10	0.9812104	0.98134	D	0.090315	0.75495	D	0.720	0.90101	0.954	0.99484	0.933797830941	0.93311	0.973204087033709	0.97309	0.646509102496	0.58061	0.787425398827	0.80051	T	0.405374	0.86014	T	0.335071	0.85504	D	0.24353	0.85315	D	0.970975399017334	0.69145	D	0.965203	0.87125	D	0.6108389	0.73273	0.58366966	0.75861	0.6108389	0.73274	0.58366966	0.75862	-17.04	0.98945	D	.	.	0.994	0.95244	P	.;.	.;.	5.996971	0.94296	34	0.9993955637934645	0.99734	0.96791	0.70958	D	AEFGBI	0.853233	0.77018	D	0.802961321153121	0.86290	8.838331	0.776796207181667	0.88137	9.47102	0.999999998301547	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	5.945000	0.69938	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.254	0.93925	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1183.43	34	chr5	76195023	.	G	A	1183.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.682;DP=425;ExcessHet=0;FS=2.465;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.38;SOR=0.747	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1195,0,1372	9	0	1	0
chr5	90840983	90840983	A	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon78:c.A17017C:p.K5673Q	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	3	1509	4	0	6	10	0.00132363	0.0004	0.002	.	894976	not_provided|Inborn_genetic_diseases|Usher_syndrome_type_2C	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.015422311848	.	.	0.0002	0	0	0	0	0.0003	0	0	0.0001229	19	154602	rs41303350	0.0001	0.0001	0.0001	0.0001	0.0029	0.0001	0.0001	0.0017	0.0014	3.584e-05	0.0001	0	0	9.353e-05	0.0029	0.0001	0.0003	0.0001	0.0001	0.0001	0.0002	0.0001	0.0002	9.141e-05	7.698e-05	0.0001	8.876e-05	0	0	6.535e-05	0	0	0	0.0034	0.0002	0.0024	0.0002	0.152	0.24468	T	0.068	0.44106	T	0.155	0.28155	B	0.033	0.22329	B	0.000000	0.84330	N	0.043616	0.856494	0.58761	D	.	.	.	1.43	0.32958	T	-1.71	0.40660	N	0.32	0.36043	-1.1041	0.03630	T	0.070	0.28675	T	9	0.100913286	0.18406	T	0.015422	0.36141	T	0.055	0.15663	.	.	0.452450644169	0.44866	0.5460965961500649	0.54535	0.049866187842	0.05475	0.384599924088	0.22907	T	0.194719	0.55058	T	-0.398577	0.02366	T	-0.511368	0.21174	T	0.0883883922958664	0.11025	T	0.782522	0.41827	T	0.27126333	0.50197	0.11159299	0.26921	0.27126333	0.50197	0.11159299	0.26920	-4.397	0.29517	T	.	.	0.123	0.37426	B	.;.;.	.;.;.	1.624404	0.20745	14.89	0.88733831276370578	0.18212	0.96178	0.67892	D	AEFI	0.435242	0.49596	N	-0.187858674214934	0.33639	1.910748	-0.100022422563016	0.35390	2.046906	0.0104997150042087	0.12034	0.638212	0.43195	0	0.670034	0.63936	0	0.608884	0.39905	0	0.530356	0.10902	0	.	.	5.8	4.64	0.57399	4.002000	0.56766	6.020000	0.52779	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.509000	0.29221	0.8522:0.1478:0.0:0.0	12.834	0.57150	711	0.56613	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1069.43	36	chr5	90840983	.	A	C	1069.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.711;DP=394;ExcessHet=0;FS=2.157;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.772;SOR=1.127	GT:AD:DP:GQ:PL	0/1:38,38:76:99:1081,0,1011	9	0	1	0
chr5	112775733	112775733	A	G	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon4:c.A557G:p.E186G,APC:NM_001354897:exon4:c.A557G:p.E186G,APC:NM_001354900:exon4:c.A350G:p.E117G,APC:NM_001354901:exon4:c.A350G:p.E117G,APC:NM_001354902:exon4:c.A557G:p.E186G,APC:NM_001354905:exon4:c.A350G:p.E117G,APC:NM_000038:exon5:c.A527G:p.E176G,APC:NM_001354895:exon5:c.A527G:p.E176G,APC:NM_001354896:exon5:c.A527G:p.E176G,APC:NM_001354898:exon5:c.A452G:p.E151G,APC:NM_001354899:exon5:c.A527G:p.E176G,APC:NM_001354903:exon5:c.A527G:p.E176G,APC:NM_001354904:exon5:c.A452G:p.E151G,APC:NM_001127510:exon6:c.A527G:p.E176G	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	31	1489	2	0	0	2	0.000671141	.	.	YES	1408280	Familial_adenomatous_polyposis_1	MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.740	0.150943881997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.45039	D	0.237	0.35840	T	0.374	0.34192	B	0.352	0.42883	B	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	1.385	0.34509	L	-3.02	0.92258	D	-3.52	0.68412	D	0.904	0.90476	0.525	0.90892	D	0.729	0.90719	D	10	0.6953932	0.72111	D	0.150944	0.83256	D	0.740	0.90982	0.328	0.31196	0.985861375872	0.98571	0.3421506880022589	0.34128	.	.	0.873024344444	0.92998	D	0.811365	0.95289	D	0.421797	0.91115	D	0.368106	0.91005	D	0.980249404907227	0.73256	D	0.865313	0.71304	D	0.23598197	0.46442	0.32212853	0.58155	0.23598197	0.46442	0.32212853	0.58154	-2.99	0.10073	T	.	.	0.464	0.62874	A	.;.;.;.	.;.;.;.	4.314041	0.65970	24.9	0.99808475275541675	0.89264	0.98159	0.80110	D	AEFGBI	0.718096	0.66940	D	0.288039189423002	0.55541	3.718202	0.3999960479718	0.61564	4.358365	0.99999999999748	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	6.799000	0.74947	11.174000	0.88071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.251	0.73241	678	0.60190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	956.43	36	chr5	112775733	.	A	G	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.163;DP=439;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.068;SOR=0.75	GT:AD:DP:GQ:PL	0/1:45,42:87:99:968,0,1054	9	0	1	0
chr5	128464822	128464822	A	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon6:c.T728C:p.I243T	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	141061	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Connective_tissue_disorder|not_specified|Congenital_contractural_arachnodactyly|Ehlers-Danlos_syndrome|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.573	.	0.0044	0.0139776	0.0095	0.0013	0.0018	0.0452	0.0195	0.0079	0.0110	0.0036	0.0091267	1411	154602	rs117524265	0.0080	0.0080	0.0082	0.0079	0.0336	0.0079	0.0079	0.0321	0.0314	0.0014	0.0025	0.0054	0.0336	0.0218	0.0028	0.0071	0.0102	0.0042	0.0073	0.0073	0.0068	0.0079	0.0489	0.0070	0.0068	0.0439	0.0420	0.0017	0	0.0037	0.0075	0.0489	0.0197	0.0068	0.0068	0.0047	0.0060	0.029	0.45756	D	0.003	0.76473	D	0.643	0.48402	P	0.259	0.56206	B	0.001208	0.39820	N	0.170472	0.998986	0.49770	D	1.32	0.33002	L	-3.07	0.92508	D	-3.02	0.66896	D	0.509	0.64393	-0.2525	0.76292	T	0.280	0.65159	T	10	0.01372388	0.00290	T	.	.	.	0.573	0.82686	.	.	0.619256953891	0.61617	0.31737948892000467	0.31650	0.815876974771	0.66937	0.682099938393	0.64570	T	0.721378	0.92129	D	-0.202632	0.20424	T	-0.030262	0.68351	D	0.0387953833404298	0.03473	T	0.451355	0.30167	T	0.14350161	0.32979	0.15197314	0.35776	0.14142926	0.32588	0.15154345	0.35691	-10.61	0.77477	D	.	.	0.251	0.49816	B	.;.;.;.;.	.;.;.;.;.	3.586061	0.50577	23.0	0.99729381861837474	0.82619	0.97556	0.75524	D	AEFDBI	0.884879	0.81493	D	0.0539133952328473	0.44322	2.708436	0.139205746002901	0.46574	2.901094	0.999991492858483	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.82	3.65	0.40985	7.462000	0.79890	8.100000	0.76553	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.9241:0.0:0.0759:0.0	10.901	0.46263	777	0.48198	TB domain|TB domain;TB domain|TB domain;TB domain|TB domain;TB domain|TB domain;TB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.000000	0.000000	0.000000	0.000000	0.021341	0.011364	0.05	2301.43	36	chr5	128464822	.	A	G	2301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.001;DP=531;ExcessHet=0;FS=0.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.66;SOR=0.762	GT:AD:DP:GQ:PL	0/1:122,94:216:99:2313,0,3292	9	0	1	0
chr5	132674480	132674480	G	A	exonic	IL4	.	nonsynonymous SNV	IL4:NM_000589:exon2:c.G157A:p.V53I,IL4:NM_001354990:exon2:c.G157A:p.V53I	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0116686468614	.	0.00139776	0.0005	9.61e-05	0	0.0051	0	4.496e-05	0	0.0004	0.0004269	66	154602	rs56279116	0.0005	0.0005	0.0004	0.0005	0.0147	0.0004	0.0004	0.0137	0.0134	2.987e-05	4.472e-05	0	0.0147	0	0	2.248e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0060	0.0002	0.0002	0.0043	0.0038	4.81e-05	0	6.536e-05	0	0.0060	0	0	2.941e-05	0	0.0010	0.118	0.28148	T	0.206	0.42261	T	0.041	0.21357	B	0.046	0.24676	B	0.047615	0.23328	N	0.309039	1	0.21411	N	1.39	0.34934	L	0.41	0.57100	T	-0.69	0.19720	N	0.156	0.17553	-1.0371	0.18202	T	0.064	0.26667	T	10	0.003993273	0.00077	T	0.011669	0.29526	T	0.060	0.17295	.	.	0.500742145641	0.49711	0.6366352537435662	0.63597	0.248012543793	0.27358	0.34498539567	0.17181	T	0.332662	0.70260	T	-0.459363	0.00992	T	-0.431667	0.29747	T	0.0248118219843452	0.01248	T	0.683132	0.29138	T	0.090402946	0.21154	0.12943381	0.31121	0.090402946	0.21154	0.12943381	0.31120	-3.71	0.19466	T	.	.	0.073	0.08997	B	.;.	.;.	0.643935	0.10126	6.869	0.89704865216193252	0.19028	0.06170	0.12153	N	AEFGBCIJ	0.048562	0.08300	N	-1.19955586557057	0.05007	0.2272908	-1.1809140736528	0.06228	0.2991619	0.999930703632652	0.46732	0.393558	0.05922	0	0.518115	0.08659	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.57	1.69	0.23290	0.891000	0.27944	1.214000	0.24928	-0.732000	0.03721	0.073000	0.22155	0.640000	0.25910	0.003000	0.05239	0.2775:0.0:0.7225:0.0	9.418	0.37697	874	0.30607	Interleukin-4/interleukin-13, conserved site;Interleukin-4/interleukin-13, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	2688.43	42	chr5	132674480	.	G	A	2688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=537;ExcessHet=0;FS=3.098;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.464;SOR=0.924	GT:AD:DP:GQ:PL	0/1:102,110:212:99:2700,0,2324	9	0	1	0
chr5	134857372	134857372	C	G	exonic	C5orf24	.	nonsynonymous SNV	C5orf24:NM_001300894:exon3:c.C443G:p.A148G	.	434	1081	6	1	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0154341635689	.	.	0.0026	0	0	0	0	0.0073	0	0.0001	0.0003881	60	154602	rs373114001	0.0006	0.0006	0.0006	0.0006	0.0090	0.0006	0.0006	0.0070	0.0063	0.0002	0.0008	0.0176	0	0	0.0090	0.0002	0.0016	5.064e-05	0.0005	0.0005	0.0006	0.0004	0.0005	0.0004	0.0004	0.0002	0.0002	4.814e-05	0	0.0005	0.0124	0.0002	0	0.0034	0.0003	0.0009	0	0.384	0.11050	T	0.144	0.33109	T	0.179	0.28995	B	0.14	0.33554	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-1.38	0.34198	N	0.433	0.47208	-0.5003	0.68639	T	0.325	0.69324	T	7	0.005982846	0.00134	T	0.015434	0.36156	T	0.166	0.42578	.	.	0.290620346082	0.28682	.	.	.	.	.	.	.	.	.	.	-0.301252	0.08543	T	-0.266102	0.48214	T	0.0280683218385178	0.01699	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	-3.34	0.14259	T	.	.	0.211	0.43922	B	.	.	2.012634	0.25571	16.81	0.97443899675765389	0.33992	0.95302	0.64194	D	AEFGBI	0.512019	0.54041	D	0.286366262906624	0.55457	3.709744	0.370196485648256	0.59731	4.15373	0.999986398379889	0.51787	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.06	5.18	0.71140	3.614000	0.53901	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.929:0.0:0.071	14.464	0.67051	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	598.43	33	chr5	134857372	.	C	G	598.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.121;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.818;SOR=0.58	GT:AD:DP:GQ:PL	0/1:42,27:69:99:610,0,1135	9	0	1	0
chr5	139403969	139403969	T	G	exonic	SPATA24	.	nonsynonymous SNV	SPATA24:NM_194296:exon1:c.A92C:p.E31A	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0043922588209	.	.	9.27e-05	0	0	0	0	0.0001	0	0.0001	1.29e-05	2	154602	rs778032308	2.93e-05	2.805e-05	2.397e-05	3.477e-05	0.0005	2.179e-05	1.962e-05	0.0002	0.0001	0	0	0	2.798e-05	0	0.0005	8.341e-06	0.0001	0.0003	6.576e-06	6.569e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.031	0.45039	D	0.287	0.46182	T	0.987	0.61912	D	0.851	0.60700	P	0.003533	0.34820	N	0.131624	0.614744	0.30830	N	0.55	0.14455	N	.	.	.	-2.48	0.59545	N	0.196	0.31702	-1.0007	0.29717	T	0.064	0.26562	T	9	0.10031772	0.18260	T	0.004392	0.10718	T	0.110	0.31079	0.207	0.12356	0.0666544352282	0.05500	.	.	.	.	0.535505473614	0.43810	T	0.035066	0.25476	T	-0.200099	0.20791	T	-0.222076	0.52536	T	0.139776254944484	0.16255	T	0.743426	0.36288	T	0.23883681	0.46767	0.29538372	0.55570	0.23883681	0.46767	0.29538372	0.55569	-3.456	0.15821	T	.	.	0.192	0.42834	B	.;.;.;.;.	.;.;.;.;.	3.397046	0.47056	22.4	0.99640125953546088	0.76633	0.15932	0.19150	N	ALL	0.260371	0.37853	N	0.025317407114503	0.43008	2.602301	0.151262671789278	0.47208	2.954603	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.18	5.18	0.71140	1.888000	0.39342	5.008000	0.46647	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	11.344	0.48791	614	0.66605	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001931	0.005208	0.000000	0.000000	0.000000	0.000000	0.004902	0.000000	0.05	2544.43	34	chr5	139403969	.	T	G	2544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.061;DP=532;ExcessHet=0;FS=2.445;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.5;SOR=0.901	GT:AD:DP:GQ:PL	0/1:98,102:200:99:2556,0,2496	9	0	1	0
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	248.99	170	chr5	141173766	.	G	A	248.99	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-5.053;DP=1428;ExcessHet=0.2348;FS=204.026;InbreedingCoeff=-0.3333;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.239;SOR=9.704	GT:AD:DP:GQ:PL	0/1:124,42:170:99:191,0,2689	2	0	2	6
chr5	141192769	141192769	C	A	exonic	PCDHB10	.	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C217A:p.Q73K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00241585611844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.17821	T	0.079	0.42086	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.9	0.50570	L	1.61	0.28391	T	-0.78	0.21644	N	0.056	0.02759	-1.0573	0.12439	T	0.056	0.23753	T	9	0.09970009	0.18111	T	0.002416	0.04729	T	0.090	0.26093	0.592	0.72123	0.537034694273	0.53353	0.24422634920539615	0.24336	.	.	0.543105483055	0.44885	T	0.012606	0.11050	T	-0.270392	0.11713	T	-0.626176	0.10706	T	0.0533154360642086	0.06073	T	0.019598	0.00107	T	0.091423444	0.21421	0.110798106	0.26719	0.091423444	0.21420	0.110798106	0.26719	-4.921	0.35970	T	.	.	0.081	0.08465	B	.	.	0.555198	0.09238	6.020	0.89803554341760394	0.19115	0.04978	0.10747	N	AEFDGBI	0.085226	0.17275	N	-0.67339732592465	0.16781	0.858051	-0.655850147944799	0.18068	0.9636407	0.458129148119192	0.20600	0.553676	0.25195	0	0.588015	0.36545	0	0.606884	0.38211	0	0.620846	0.47308	0	.	.	3.46	3.46	0.38718	-0.098000	0.10993	.	.	-0.992000	0.01845	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1916:0.8084:0.0:0.0	10.662	0.44904	676	0.60355	Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	728.43	34	chr5	141192769	.	C	A	728.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=344;ExcessHet=0;FS=10.484;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.29;MQRankSum=-1.441;QD=15.18;ReadPosRankSum=-1.167;SOR=1.64	GT:AD:DP:GQ:PL	0/1:25,23:48:99:740,0,850	9	0	1	0
chr5	141210753	141210753	G	C	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.G1846C:p.G616R	.	30	1479	13	0	0	13	0.00437563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00851517375919	.	0.000998403	0.0005	0	0.0008	0	0	0.0006	0.0039	0.0005	0.0004226	11	26028	rs528495738	0.0003	0.0003	0.0003	0.0003	0.0063	0.0003	0.0003	0.0044	0.0038	0.0001	0.0013	0.0012	0	0	0.0063	0.0002	0.0006	0.0003	0.0005	0.0005	0.0005	0.0004	0.0024	0.0004	0.0003	0.0018	0.0016	0.0001	0	0.0024	0.0012	0	0	0.0102	0.0003	0.0009	0.0002	0.015	0.52492	D	0.045	0.49390	D	0.872	0.47902	P	0.797	0.58061	P	.	.	.	.	1	0.08975	N	-0.425	0.02884	N	0.9	0.45248	T	-3.88	0.72710	D	0.059	0.03069	-0.9018	0.47803	T	0.058	0.24354	T	9	0.01379326	0.00291	T	0.008515	0.22507	T	0.156	0.40720	.	.	0.303781844768	0.29979	0.4101502521765602	0.40931	0.575490844453	0.53544	0.53446149826	0.43663	T	0.018948	0.15187	T	-0.609488	0.00128	T	-0.698704	0.05896	T	0.118801347079133	0.14313	T	0.375062	0.15636	T	0.3332098	0.55732	0.20432355	0.44551	0.3332098	0.55732	0.20432355	0.44550	-6.169	0.52804	T	.	.	0.147	0.37858	B	.;.	.;.	-0.462367	0.01991	0.175	0.90808590698680036	0.20057	0.02043	0.06114	N	AEFBI	0.107462	0.21410	N	-1.17974751373938	0.05306	0.242	-1.29056837639162	0.04557	0.215216	0.196129241931373	0.18061	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.53	-6.48	0.01726	-4.772000	0.00217	.	.	-1.239000	0.01316	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	0.6694:0.2212:0.1094:0.0	9.130	0.36000	692	0.58729	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009804	0.005263	0.009511	0.020833	0.000000	0.026316	0.000000	0.000000	0.05	1438.43	33	chr5	141210753	.	G	C	1438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.375;DP=487;ExcessHet=0;FS=6.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=36.77;MQRankSum=-0.947;QD=10.98;ReadPosRankSum=-0.242;SOR=0.312	GT:AD:DP:GQ:PL	0/1:68,63:131:99:1450,0,1766	9	0	1	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.000000	0.008152	0.026316	0.000000	0.017241	0.018293	0.030303	0.1	2081.14	67	chr5	149621740	.	G	A	2081.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.29;DP=438;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.11;SOR=0.652	GT:AD:DP:GQ:PL	0/1:28,38:66:99:902,0,618	8	0	2	0
chr5	151293424	151293424	G	A	exonic	SLC36A3	.	nonsynonymous SNV	SLC36A3:NM_001145017:exon4:c.C344T:p.T115M,SLC36A3:NM_181774:exon4:c.C344T:p.T115M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00282923984546	7.7e-05	0.00119808	0.0010	0.0001	9.124e-05	0.0043	0.0048	0.0007	0.0012	0.0002	0.0008021	124	154602	rs142591776	0.0005	0.0005	0.0005	0.0004	0.0047	0.0004	0.0004	0.0042	0.0040	0	0	0	0.0047	0.0044	0.0005	0.0002	0.0008	0.0002	0.0007	0.0007	0.0005	0.0009	0.0046	0.0006	0.0005	0.0032	0.0027	9.624e-05	0	0	0	0.0046	0.0030	0	0.0005	0.0005	0.0008	0.056	0.38185	T	0.143	0.36765	T	0.001	0.15535	B	0.008	0.13708	B	0.020822	0.26957	N	0.429701	0.980533	0.26757	N	-1.935	0.00224	N	3.64	0.04309	T	0.4	0.03889	N	0.168	0.17828	-0.9344	0.43485	T	0.006	0.01870	T	10	0.00786376	0.00179	T	0.002829	0.05927	T	0.038	0.09825	.	.	0.0716867268079	0.06686	0.2615711461353809	0.26070	0.034674835795	0.03646	0.261710524559	0.05096	T	6.25E-4	0.00264	T	-0.66694	0.00057	T	-0.730797	0.04291	T	0.0445402809515419	0.04519	T	0.828317	0.49240	T	0.026175035	0.01642	0.053229872	0.08925	0.026175035	0.01642	0.053229872	0.08925	-2.817	0.09925	T	.	.	0.095	0.25721	B	.;.	.;.	1.151594	0.15400	11.82	0.88946474262090625	0.18384	0.05391	0.11257	N	AEFBI	0.050375	0.08799	N	-0.684255359861289	0.16470	0.8394238	-0.522965879021525	0.21530	1.165152	0.113572004042671	0.16711	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.2	1.35	0.21078	2.192000	0.42281	2.103000	0.30614	0.618000	0.50648	0.994000	0.38300	0.001000	0.17328	0.300000	0.24500	0.8577:0.0:0.1423:0.0	8.213	0.30654	636	0.64483	Amino acid transporter, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2055.43	35	chr5	151293424	.	G	A	2055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.211;DP=437;ExcessHet=0;FS=0.766;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=1.48;SOR=0.591	GT:AD:DP:GQ:PL	0/1:38,78:116:99:2067,0,867	9	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	695.79	120	chr5	154834880	.	G	C	695.79	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=1265;ExcessHet=2.8389;FS=294.497;InbreedingCoeff=-0.4324;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.554;SOR=10.414	GT:AD:DP:GQ:PL	0/1:79,42:130:99:335,0,1496	3	0	5	2
chr5	157029704	157029704	C	T	exonic	HAVCR1	.	nonsynonymous SNV	HAVCR1:NM_001308156:exon8:c.G1090A:p.A364T	.	423	1047	47	5	0	57	0.0264993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0032	0.00199681	0.0043	0.0006	0.0030	0	0.0002	0.0064	0.0128	0.0026	0.003978	615	154602	rs137884244	0.0036	0.0036	0.0034	0.0037	0.0626	0.0035	0.0034	0.0573	0.0552	0.0016	0.0048	0.0434	0	0.0005	0.0626	0.0024	0.0077	0.0028	0.0035	0.0035	0.0034	0.0035	0.0067	0.0032	0.0031	0.0056	0.0052	0.0008	0	0.0067	0.0384	0.0002	9.489e-05	0.0850	0.0028	0.0109	0.0031	0.0	0.91255	D	0.0	0.92824	D	0.513	0.37366	P	0.027	0.21085	B	.	.	.	.	1	0.08975	N	.	.	.	2.17	0.19020	T	-0.45	0.14782	N	0.073	0.04668	-1.0124	0.26165	T	0.017	0.07140	T	8	0.0031917393	0.00054	T	.	.	.	0.010	0.01040	.	.	0.136095386433	0.13204	0.09695275100237294	0.09627	.	.	.	.	.	0.019744	0.15670	T	-0.707108	0.00033	T	-0.788085	0.02218	T	0.00299551632433776	0.00031	T	0.309669	0.06003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.20819	B	.;.	.;.	0.361209	0.07339	3.955	0.96280866864453463	0.29282	0.01485	0.04937	N	AEFDGBI	0.039154	0.05648	N	-0.919517760638379	0.10386	0.4960579	-1.0576289488295	0.08548	0.4208496	0.988057716070122	0.31407	0.487112	0.14033	0	0.578056	0.33634	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.61	-0.194	0.12590	-0.678000	0.05310	-2.076000	0.04249	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1753:0.413:0.1928:0.219	0.966	0.01317	634	0.64659	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1897.43	34	chr5	157029704	.	C	T	1897.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.619;DP=492;ExcessHet=0;FS=0.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.541;SOR=0.635	GT:AD:DP:GQ:PL	0/1:89,78:167:99:1909,0,2109	9	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	43716.6	395	chr5	157052557	.	C	*	43716.6	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.148;DP=5393;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=1.9;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,216:504:99:.:.:22051,11958,11281:.	1	4	5	0
chr5	157638477	157638477	T	C	exonic	SOX30	.	nonsynonymous SNV	SOX30:NM_178424:exon4:c.A1633G:p.R545G,SOX30:NM_001308165:exon5:c.A718G:p.R240G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.237756253693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.006	0.70582	D	0.518	0.37483	P	0.154	0.34351	B	0.000557	0.43413	D	0.164007	0.958168	0.81001	D	2.125	0.59049	M	-4.4	0.97989	D	-0.61	0.22508	N	0.132	0.13484	0.829	0.94766	D	0.820	0.93955	D	10	0.19845992	0.35816	T	0.237756	0.88557	D	0.569	0.82460	0.213	0.13210	0.882961405419	0.88181	0.4443980023957744	0.44357	.	.	0.340976953506	0.16585	T	0.057361	0.30545	T	0.270992	0.80528	D	0.151485	0.80276	D	0.67616468667984	0.39614	D	0.70183	0.31167	T	0.2139039	0.43782	0.20383586	0.44478	0.2139039	0.43782	0.20383586	0.44477	-3.257	0.13189	T	0.5339090397131678	0.60442	0.102	0.17911	B	.;.	.;.	2.548201	0.32975	19.20	0.99236976376184172	0.56405	0.90489	0.51708	D	AEFDI	0.625724	0.60881	D	-0.0461696826637311	0.39774	2.350991	0.0696604107587768	0.43032	2.613456	0.998814206398794	0.37733	0.553676	0.25195	0	0.588015	0.36545	0	0.467745	0.07146	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	2.819000	0.47749	1.812000	0.28970	0.665000	0.62972	0.944000	0.32806	1.000000	0.68203	0.642000	0.32476	0.0:0.0:0.0:1.0	14.373	0.66419	821	0.40814	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2711.43	33	chr5	157638477	.	T	C	2711.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.561;DP=545;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.598;SOR=0.602	GT:AD:DP:GQ:PL	0/1:103,118:221:99:2723,0,2662	9	0	1	0
chr5	160606842	160606842	C	G	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon18:c.G3083C:p.C1028S,ATP10B:NM_001366655:exon18:c.G3083C:p.C1028S,ATP10B:NM_001366657:exon18:c.G3047C:p.C1016S,ATP10B:NM_025153:exon19:c.G3083C:p.C1028S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.891	0.131598862349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.84	0.82582	M	-2.49	0.89145	D	-9.29	0.98304	D	0.832	0.82761	0.806	0.94490	D	0.830	0.94291	D	9	0.9605421	0.95459	D	0.131599	0.81386	D	0.891	0.96873	0.786	0.90919	0.87106141007	0.86980	0.9565475526351659	0.95639	0.490603550308	0.47775	0.726916432381	0.71056	T	0.174125	0.52324	T	0.359104	0.87186	D	0.278052	0.87020	D	0.999831795692444	0.99255	D	0.973803	0.90577	D	0.9422837	0.95480	0.9293517	0.97050	0.9422837	0.95481	0.9293517	0.97050	-10.707	0.78026	D	.	.	0.754	0.80188	P	.;.	.;.	5.027772	0.83596	28.1	0.99645438470779113	0.76943	0.98939	0.88905	D	AEFI	0.974350	0.99553	D	0.796243443090197	0.85869	8.707261	0.752188351016725	0.86320	8.851638	0.999998860971258	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	7.813000	0.84661	7.614000	0.62028	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.417	0.87394	865	0.32612	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1675.43	34	chr5	160606842	.	C	G	1675.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.986;DP=468;ExcessHet=0;FS=0.629;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=2.58;SOR=0.601	GT:AD:DP:GQ:PL	0/1:79,67:146:99:1687,0,2059	9	0	1	0
chr5	168502030	168502030	G	A	exonic	RARS1	.	nonsynonymous SNV	RARS1:NM_002887:exon9:c.G982A:p.V328I	.	451	1042	27	2	0	31	0.0146572	.	.	.	369735	RARS1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0036	0.0103834	0.0084	0.0015	0.0022	0	0.0006	0.0057	0.0033	0.0357	0.0076648	1185	154602	rs62385662	0.0069	0.0071	0.0061	0.0078	0.0349	0.0068	0.0068	0.0338	0.0334	0.0008	0.0026	0.0052	5.211e-05	0.0015	0.0121	0.0058	0.0060	0.0349	0.0047	0.0047	0.0043	0.0051	0.0349	0.0044	0.0043	0.0306	0.0290	0.0009	0	0.0056	0.0035	0	0.0008	0.0102	0.0058	0.0043	0.0349	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.014	0.16862	B	0.000002	0.62929	N	0.097391	0.897314	0.27769	N	0.09	0.08384	N	-0.24	0.66834	T	0.34	0.03824	N	0.132	0.12770	-1.0317	0.19905	T	0.083	0.32499	T	10	0.0030251145	0.00050	T	.	.	.	0.080	0.23350	.	.	0.327952845175	0.32413	0.2619038956411178	0.26104	0.102547148588	0.11607	0.240840762854	0.02866	T	0.092985	0.39118	T	-0.539611	0.00337	T	-0.523516	0.19940	T	0.000982415210076527	0.00009	T	0.748625	0.36937	T	0.029705701	0.02508	0.03727165	0.03346	0.029705701	0.02508	0.03727165	0.03346	-3.975	0.23428	T	0.07787395530918212	0.03689	0.070	0.03407	B	.	.	0.481741	0.08514	5.274	0.19889733911019364	0.00691	0.27502	0.23295	N	AEFBI	0.054241	0.09844	N	-0.710132157647346	0.15736	0.7956725	-0.50197793115811	0.22099	1.198669	0.999279479482713	0.38974	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	3.99	0.45527	2.019000	0.40620	1.065000	0.23755	-0.704000	0.03997	1.000000	0.71638	0.459000	0.24993	0.429000	0.27427	0.8443:0.0:0.1557:0.0	9.332	0.37191	972	0.05671	Arginyl-tRNA synthetase, catalytic core domain|Arginyl-tRNA synthetase, catalytic core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010101	0.005102	0.009511	0.002924	0.000000	0.025862	0.015432	0.018939	0.05	1140.43	34	chr5	168502030	.	G	A	1140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.643;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.25;SOR=0.656	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1152,0,1218	9	0	1	0
chr5	173989505	173989505	C	T	exonic	C5orf47	.	nonsynonymous SNV	C5orf47:NM_001144954:exon1:c.C242T:p.P81L	.	414	1093	14	1	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.00599042	0.0061	0.0196	0.0048	0	0	0.0085	0	0.0028	0.0012419	192	154602	rs115473626	0.0047	0.0045	0.0048	0.0045	0.0176	0.0046	0.0045	0.0164	0.0159	0.0176	0.0036	0.0077	2.822e-05	0.0148	0.0088	0.0041	0.0061	0.0012	0.0098	0.0098	0.0095	0.0102	0.0186	0.0094	0.0093	0.0175	0.0171	0.0186	0.0011	0.0090	0.0069	0	0.0184	0.0102	0.0049	0.0104	0.0012	0.395	0.10659	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	.	.	.	-2.28	0.50830	N	0.025	0.00485	-1.0222	0.22998	T	0.014	0.05513	T	8	0.0047113	0.00099	T	.	.	.	0.022	0.04323	.	.	0.0551355673512	0.04727	0.02208729332052774	0.02160	.	.	.	.	.	0.054679	0.29791	T	-0.708169	0.00033	T	-0.775075	0.02605	T	0.00249957737345957	0.00026	T	0.452755	0.12846	T	0.027760087	0.02015	0.04247452	0.05065	0.027760087	0.02015	0.04247452	0.05065	-3.679	0.19008	T	.	.	0.077	0.06295	B	.	.	-0.049628	0.03954	0.884	0.49522400986126158	0.04224	0.00388	0.01954	N	AEFDBI	0.028796	0.02603	N	-1.8116562881133	0.00517	0.0222669	-1.87970252443646	0.00537	0.02380419	0.197110843992046	0.18074	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	1.16	0.067	0.13678	-0.798000	0.04670	-0.643000	0.08067	-0.614000	0.04577	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.778:0.0:0.222	6.657	0.22185	975	0.05339	.	.	.	.	.	rs115473626	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	950.43	35	chr5	173989505	.	C	T	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.882;DP=414;ExcessHet=0;FS=1.838;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.796;SOR=0.949	GT:AD:DP:GQ:PL	0/1:43,37:80:99:962,0,1103	9	0	1	0
chr5	177093430	177093430	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_022963:exon8:c.G1156A:p.G386S,FGFR4:NM_001354984:exon10:c.G1276A:p.G426S,FGFR4:NM_002011:exon10:c.G1276A:p.G426S,FGFR4:NM_213647:exon10:c.G1276A:p.G426S	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0709963716306	7.7e-05	0.000199681	5.789e-05	0	8.643e-05	0	0	7.538e-05	0	6.056e-05	5.17e-05	8	154602	rs55879131	7.183e-05	7.251e-05	8.713e-05	5.638e-05	0.0016	6.048e-05	5.595e-05	0.0008	0.0006	0	0.0001	0	0	0	0.0016	6.385e-05	0.0002	0.0001	5.907e-05	5.905e-05	5.138e-05	6.711e-05	0.0002	3.074e-05	2.208e-05	2.846e-05	1.858e-05	2.405e-05	0	6.533e-05	0	0	0	0	7.35e-05	0.0005	0.0002	0.645	0.06824	T	0.421	0.14075	T	0.083	0.41767	B	0.015	0.30945	B	0.000189	0.48115	N	0.213165	0.982048	0.81001	D	1.525	0.38595	L	-1.67	0.82806	D	-0.87	0.23590	N	0.455	0.49237	-0.6557	0.62465	T	0.253	0.62281	T	10	0.11410746	0.21458	T	0.070996	0.71151	D	0.336	0.65816	.	.	0.927080715913	0.92633	0.54438628875386	0.54364	0.302393690479	0.32568	0.487607836723	0.37107	T	0.253258	0.62376	T	-0.0888584	0.38265	T	-0.168444	0.57585	T	0.0889597088098526	0.11093	T	0.710029	0.42989	T	0.02430517	0.01250	0.04490683	0.05925	0.035705008	0.04254	0.058289565	0.10744	-3.217	0.12689	T	.	.	0.072	0.12037	B	.;.;.	.;.;.	3.638030	0.51572	23.1	0.96776249816279514	0.31057	0.89981	0.50810	D	AEFDBCI	0.377127	0.46101	N	-0.00744127872731444	0.41518	2.484795	0.00955622752306673	0.40156	2.392147	0.999437463763052	0.39683	0.718356	0.82227	0	0.610034	0.51514	0	0.570548	0.19454	0	0.550183	0.17644	0	.	.	4.76	3.89	0.44098	4.602000	0.60805	7.476000	0.59206	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0792:0.0:0.9208:0.0	13.000	0.58076	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	2463.43	48	chr5	177093430	.	G	A	2463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=569;ExcessHet=0;FS=0.507;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.188;SOR=0.759	GT:AD:DP:GQ:PL	0/1:108,101:209:99:2475,0,2479	9	0	1	0
chr5	177097608	177097608	G	T	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_022963:exon16:c.G2221T:p.V741F,FGFR4:NM_001291980:exon18:c.G2137T:p.V713F,FGFR4:NM_001354984:exon18:c.G2341T:p.V781F,FGFR4:NM_002011:exon18:c.G2341T:p.V781F,FGFR4:NM_213647:exon18:c.G2341T:p.V781F	.	394	1126	2	0	0	2	0.000887311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.0763350352174	.	.	3.298e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs779626910	1.095e-05	1.094e-05	1.225e-05	9.626e-06	0.0003	6.48e-06	5.24e-06	0.0002	0.0002	0	0	0	0.0003	0	0	1.799e-06	1.656e-05	0	2.627e-05	2.626e-05	3.853e-05	1.344e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.0	0.91255	D	0.005	0.72224	D	0.998	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.475	0.71894	M	-1.59	0.82076	D	-3.59	0.75058	D	0.551	0.66787	0.432	0.89567	D	0.676	0.88774	D	10	0.27222764	0.44765	T	0.076335	0.72505	D	0.593	0.83802	0.184	0.09259	0.95226174331	0.95175	0.6712116497002473	0.67059	0.358385022141	0.37549	0.55682849884	0.46820	T	0.744262	0.92942	D	0.0716991	0.61054	D	0.185224	0.82296	D	0.829889297485352	0.48521	D	0.988826	0.96199	D	0.8274618	0.85727	0.6544297	0.79771	0.8274618	0.85728	0.6544297	0.79772	-10.565	0.77220	D	.	.	0.439	0.71051	A	.;.;.;.	.;.;.;.	3.938193	0.57613	23.9	0.99017924553138392	0.50505	0.98335	0.81744	D	AEFDBHCI	0.961283	0.98245	D	0.643680637978163	0.75961	6.399255	0.579792908709458	0.73492	5.97942	0.999999999999996	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.64	4.64	0.57399	8.111000	0.89418	11.838000	0.97738	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.348000	0.25613	0.0:0.0:1.0:0.0	16.448	0.83814	840	0.37365	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1773.43	36	chr5	177097608	.	G	T	1773.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=494;ExcessHet=0;FS=1.199;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.459;SOR=0.596	GT:AD:DP:GQ:PL	0/1:106,72:178:99:1785,0,2677	9	0	1	0
chr5	177460455	177460455	G	A	exonic	DBN1	.	nonsynonymous SNV	DBN1:NM_001364152:exon3:c.C128T:p.P43L,DBN1:NM_001363541:exon10:c.C932T:p.P311L,DBN1:NM_001364151:exon10:c.C929T:p.P310L,DBN1:NM_004395:exon10:c.C932T:p.P311L,DBN1:NM_080881:exon11:c.C938T:p.P313L	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0406502271423	0.0007	0.000399361	0.0004	0	0.0005	0	0	0.0005	0.0011	0.0002	0.0003946	61	154602	rs201548561	0.0006	0.0006	0.0007	0.0006	0.0019	0.0006	0.0006	0.0011	0.0008	0.0002	0.0009	0	0	1.872e-05	0.0019	0.0007	0.0008	0.0002	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0.0034	0.0007	0.0005	0	0.006	0.63226	D	0.197	0.62352	T	0.126	0.26920	B	0.023	0.19966	B	0.002409	0.36612	N	0.272192	0.999664	0.54805	D	0.63	0.15941	N	1.48	0.36512	T	-3.16	0.69593	D	0.103	0.25989	-1.0196	0.23845	T	0.094	0.35684	T	10	0.046273947	0.03798	T	0.04065	0.59492	D	0.047	0.12962	.	.	0.371749281113	0.36790	0.4139210643753722	0.41308	0.133712803413	0.15057	0.554601192474	0.46505	T	0.507646	0.82529	D	-0.430684	0.01468	T	-0.470685	0.25441	T	0.0518964342772961	0.05829	T	0.844016	0.56300	T	0.11552991	0.27261	0.100316726	0.23981	0.11552991	0.27261	0.100316726	0.23980	-5.253	0.41971	T	.	.	0.079	0.18247	B	.;.;.;.;.	.;.;.;.;.	2.575924	0.33391	19.33	0.99542721495968622	0.70586	0.70302	0.34535	D	AEFBHCI	0.299218	0.40833	N	-0.0399130748156171	0.40054	2.372222	0.0193831648239145	0.40615	2.426772	0.999999989175901	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.41	4.41	0.52588	2.014000	0.40571	6.557000	0.55928	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.107:0.0:0.893:0.0	8.213	0.30652	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	596.43	33	chr5	177460455	.	G	A	596.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.158;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=1.27;SOR=0.698	GT:AD:DP:GQ:PL	0/1:33,25:58:99:608,0,888	9	0	1	0
chr5	179651623	179651623	A	C	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.A392C:p.Q131P,C5orf60:NM_001305388:exon4:c.A392C:p.Q131P	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	.	0.000399361	0.0021	0	0	0	0	0.0031	0	0.0025	0.0002689	7	26028	rs568386002	0.0007	0.0013	0.0007	0.0007	0.0032	0.0007	0.0007	0.0019	0.0015	0.0003	0.0003	0.0002	0	0.0005	0.0032	0.0008	0.0008	0.0005	0.0005	0.0009	0.0006	0.0004	0.0007	0.0004	0.0004	0.0006	0.0005	0.0003	0	0.0004	0.0003	0	0.0005	0	0.0007	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	128.43	19	chr5	179651623	.	A	C	128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.76;DP=190;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=31.77;MQRankSum=0.827;QD=5.58;ReadPosRankSum=-0.91;SOR=0.275	GT:AD:DP:GQ:PL	0/1:17,6:23:99:140,0,473	9	0	1	0
chr5	179651637	179651637	C	G	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.C406G:p.P136A,C5orf60:NM_001305388:exon4:c.C406G:p.P136A	.	417	1096	9	0	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.000399361	0.0030	0	0	0	0	0.0053	0	0.0021	0.0001921	5	26028	rs565761130	0.0006	0.0012	0.0006	0.0007	0.0027	0.0006	0.0006	0.0015	0.0012	0.0002	0.0003	0.0002	2.819e-05	0.0006	0.0027	0.0007	0.0007	0.0004	0.0005	0.0009	0.0005	0.0005	0.0007	0.0004	0.0004	0.0005	0.0005	0.0003	0	0.0003	0.0003	0	0.0009	0	0.0007	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	242.43	33	chr5	179651637	.	C	G	242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.185;DP=259;ExcessHet=0;FS=4.985;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.46;MQRankSum=1.32;QD=7.82;ReadPosRankSum=-2.149;SOR=0.119	GT:AD:DP:GQ:PL	0/1:20,11:31:99:254,0,586	9	0	1	0
chr5	179774539	179774539	C	G	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon5:c.C2713G:p.P905A	.	425	1095	2	0	0	2	0.000912409	.	.	.	699039	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.029	.	0.0033	0.00159744	0.0052	0.0008	0.0215	0	0.0021	0.0052	0.0035	0.0004	0.0049676	768	154602	rs61748800	0.0053	0.0053	0.0055	0.0051	0.0168	0.0052	0.0052	0.0158	0.0154	0.0008	0.0168	3.826e-05	2.519e-05	0.0029	0.0024	0.0059	0.0032	0.0006	0.0039	0.0039	0.0044	0.0034	0.0067	0.0037	0.0035	0.0058	0.0056	0.0009	0.0011	0.0067	0	0	0.0018	0.0034	0.0063	0.0019	0.0006	0.297	0.14645	T	0.416	0.14284	T	0.005	0.12996	B	0.004	0.10090	B	0.298891	0.14634	N	0.677967	0.99995	0.19072	N	2.155	0.60227	M	2.05	0.20664	T	-0.03	0.07444	N	0.1	0.08227	-0.9842	0.34022	T	0.019	0.07846	T	10	0.0029099286	0.00047	T	.	.	.	0.029	0.06676	.	.	0.2419029386	0.23804	0.14057527064282885	0.13980	0.112467527083	0.12694	0.334985375404	0.15686	T	0.245384	0.61467	T	-0.615728	0.00117	T	-0.642291	0.09503	T	0.00325560636022731	0.00034	T	.	.	.	0.020281695	0.00582	0.025148407	0.00551	0.020281695	0.00582	0.025148407	0.00551	-4.665	0.32978	T	.	.	0.055	0.00375	B	.	.	-0.247995	0.02853	0.402	0.50074755767569212	0.04320	0.15868	0.19120	N	AEFDBI	0.042855	0.06702	N	-1.02868833748212	0.08012	0.3741928	-0.965605066191839	0.10564	0.5328206	0.99991053419375	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.07	0.010	0.13404	0.093000	0.14925	-1.565000	0.05159	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.1633:0.1746:0.3255:0.3367	0.870	0.01134	882	0.29131	.	.	.	.	.	.	Likely benign	0	0	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	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	842.43	34	chr5	179774539	.	C	G	842.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.191;DP=388;ExcessHet=0;FS=1.892;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.73;SOR=0.951	GT:AD:DP:GQ:PL	0/1:44,33:77:99:854,0,1315	9	0	1	0
chr6	2765671	2765671	C	G	exonic	WRNIP1	.	nonsynonymous SNV	WRNIP1:NM_020135:exon1:c.C49G:p.Q17E,WRNIP1:NM_130395:exon1:c.C49G:p.Q17E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.327234420125	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279053843	3.568e-06	4.104e-06	4.263e-06	2.867e-06	3.67e-06	1.05e-06	7.6e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.67e-06	1.728e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.948	0.02632	T	0.009	0.17086	B	0.005	0.16012	B	0.110807	0.19426	N	0.526610	0.940635	0.26802	N	0.345	0.11182	N	0.87	0.47130	T	-0.29	0.12283	N	0.217	0.30233	-1.0920	0.05207	T	0.033	0.14290	T	10	0.082612574	0.13653	T	0.327234	0.91648	D	0.056	0.15993	0.227	0.15257	0.082315109003	0.07666	0.2009018072086573	0.20007	0.227693720745	0.25324	0.802092075348	0.82281	T	0.103522	0.41224	T	-0.204974	0.20091	T	-0.532208	0.19066	T	0.220917823526536	0.21510	T	0.59884	0.22311	T	0.5717651	0.71157	0.4988735	0.71025	0.5717651	0.71158	0.4988735	0.71026	-6.404	0.49540	T	.	.	0.076	0.28290	B	.;.;.	.;.;.	2.979341	0.39734	21.0	0.86627505703342145	0.16663	0.57098	0.30288	D	AEFDGBHCI	0.253274	0.37280	N	-0.741516557001933	0.14866	0.7441575	-0.632991990409049	0.18648	0.9970984	0.999999999998428	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.54	2.64	0.30504	1.340000	0.33501	5.448000	0.48638	0.427000	0.20867	0.645000	0.28128	1.000000	0.68203	0.992000	0.67800	0.3823:0.6177:0.0:0.0	9.488	0.38107	860	0.33753	Zinc finger, Rad18-type putative;.;Zinc finger, Rad18-type putative	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	499.43	33	chr6	2765671	.	C	G	499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.467;DP=350;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=1.61;SOR=0.551	GT:AD:DP:GQ:PL	0/1:24,24:48:99:511,0,582	9	0	1	0
chr6	7727550	7727550	C	G	exonic	BMP6	.	nonsynonymous SNV	BMP6:NM_001718:exon1:c.C595G:p.P199A	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.81565281711	.	0.00179712	0.0008	0	0.0002	0	0	5.576e-05	0.0062	0.0049	0.0006145	95	154602	rs551211683	0.0003	0.0003	0.0002	0.0005	0.0043	0.0003	0.0003	0.0040	0.0038	0	0.0001	0	0	0	0.0005	5.857e-05	0.0004	0.0043	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0	4.41e-05	0	0.0068	0.142	0.25457	T	0.155	0.31936	T	0.02	0.18235	B	0.074	0.28220	B	0.058458	0.22401	N	0.403406	0.540608	0.31416	N	1.7	0.43825	L	-0.67	0.72458	T	-2.26	0.50502	N	0.235	0.26475	-1.0599	0.11781	T	0.113	0.40422	T	10	0.03730288	0.02076	T	0.815653	0.98565	D	0.153	0.40148	0.586	0.71371	0.565853658169	0.56249	0.40333507738894464	0.40249	0.166981265206	0.18835	0.812991023064	0.83951	D	0.48977	0.81485	T	-0.469915	0.00851	T	-0.447647	0.27957	T	0.0264850156980962	0.01472	T	0.520648	0.16939	T	0.04903649	0.08643	0.07285167	0.15764	0.04903649	0.08643	0.07285167	0.15763	-2.918	0.09324	T	.	.	0.056	0.00478	B	.	.	1.543180	0.19785	14.44	0.98261524856137827	0.39667	0.81299	0.40732	D	AEFDBCI	0.187345	0.31464	N	-0.500665860251751	0.22058	1.175214	-0.455199300149532	0.23402	1.27599	0.999999991826346	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	3.63	2.33	0.27981	1.659000	0.37003	0.087000	0.14465	-0.372000	0.05439	0.761000	0.29254	0.004000	0.18990	0.068000	0.16518	0.0:0.689:0.1743:0.1367	6.311	0.20374	889	0.27310	TGF-beta, propeptide	.	.	.	.	.	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	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.05	1499.43	40	chr6	7727550	.	C	G	1499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.279;DP=473;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.465;SOR=0.784	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1511,0,1631	9	0	1	0
chr6	7845308	7845308	A	G	exonic	BMP6	.	nonsynonymous SNV	BMP6:NM_001718:exon2:c.A833G:p.Q278R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0425946834422	7.7e-05	.	8.293e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs143680665	4.105e-06	4.104e-06	2.723e-06	5.501e-06	2.237e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	2.237e-05	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.192	0.28300	T	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.84330	D	0.055933	0.999999	0.58761	D	1.895	0.50365	L	-0.11	0.64445	T	-3.19	0.64593	D	0.856	0.85238	-0.5080	0.68360	T	0.300	0.67148	T	10	0.8787384	0.87176	D	0.042595	0.60546	D	0.560	0.81946	.	.	0.898848323249	0.89784	0.6566289642367061	0.65598	0.694681400389	0.60780	0.568130135536	0.48413	T	0.762856	0.93589	D	0.27929	0.81255	D	0.163405	0.81014	D	0.959666728973389	0.65595	D	0.846715	0.52677	T	0.51616514	0.68038	0.46701106	0.69077	0.51616514	0.68039	0.46701106	0.69077	-10.555	0.77162	D	.	.	0.690	0.72561	P	.	.	4.264778	0.64845	24.8	0.99846705667567659	0.92663	0.98048	0.79160	D	AEFBCI	0.843529	0.76055	D	0.702510250612857	0.79797	7.154241	0.694715201985124	0.81974	7.654477	0.999999999737989	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.616094	0.41390	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	8.630000	0.90753	11.088000	0.85875	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.212	0.72923	835	0.38313	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	808.43	34	chr6	7845308	.	A	G	808.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.038;DP=414;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.122;SOR=0.877	GT:AD:DP:GQ:PL	0/1:46,34:80:99:820,0,1163	9	0	1	0
chr6	21594616	21594616	C	G	exonic	SOX4	.	nonsynonymous SNV	SOX4:NM_003107:exon1:c.C82G:p.L28V	.	401	1088	32	1	0	34	0.0153846	.	.	.	721903	SOX4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0064	0.00658946	0.0099	0.0017	0.0069	0.0004	0.0236	0.0138	0.0104	0.0029	0.0069857	1080	154602	rs140231408	0.0088	0.0088	0.0087	0.0090	0.0231	0.0087	0.0087	0.0198	0.0185	0.0013	0.0061	0.0046	2.535e-05	0.0170	0.0231	0.0096	0.0085	0.0029	0.0084	0.0084	0.0083	0.0085	0.0123	0.0080	0.0078	0.0116	0.0113	0.0015	0.0461	0.0105	0.0037	0.0002	0.0112	0.0068	0.0123	0.0114	0.0035	0.02	0.49613	D	0.041	0.50514	D	0.999	0.77913	D	0.991	0.79672	D	0.008648	0.30737	U	0.228531	0.998091	0.44502	D	2.085	0.57729	M	-4.61	0.97866	D	-1.94	0.45042	N	0.28	0.31702	1.021	0.97545	D	0.930	0.97703	D	10	0.0058346987	0.00130	T	.	.	.	0.393	0.70844	.	.	0.976265630234	0.97601	0.8798186674249182	0.87949	1.76582254262	0.91186	0.850305140018	0.89661	D	0.508715	0.82587	D	-0.20665	0.19853	T	-0.0559893	0.66610	D	0.0263906622172914	0.01459	T	0.767723	0.39623	T	0.40660983	0.61188	0.48305514	0.70070	0.40660983	0.61188	0.48305514	0.70070	-5.077	0.37664	T	.	.	0.239	0.47294	B	.	.	4.612667	0.73162	25.9	0.98579792533148403	0.43219	0.13430	0.17851	N	ALL	0.198450	0.32531	N	0.508664371648211	0.67602	5.103375	0.493918065059826	0.67587	5.103923	0.999999999735307	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.12	5.12	0.69459	0.264000	0.18264	5.555000	0.48903	0.580000	0.29708	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.331	0.87150	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014184	0.010309	0.014946	0.011696	0.050000	0.008621	0.015432	0.011364	0.05	708.43	35	chr6	21594616	.	C	G	708.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.645;DP=439;ExcessHet=0;FS=3.116;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=1.04;SOR=1.1	GT:AD:DP:GQ:PL	0/1:46,31:77:99:720,0,1260	9	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1640.75	71	chr6	24145554	.	C	T	1640.75	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.77;DP=720;ExcessHet=10.3881;FS=223.591;InbreedingCoeff=-0.6667;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=-0.196;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,30:69:99:.:.:425,0,484:.	5	0	5	0
chr6	28074313	28074313	G	T	exonic	OR1F12	.	nonsynonymous SNV	OR1F12:NM_001355425:exon1:c.G998T:p.R333L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.55	4	chr6	28074313	.	G	T	33.55	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.68;MQRankSum=0.967;QD=11.18;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	5	0	1	4
chr6	29396952	29396952	T	C	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.T253C:p.S85P	.	433	1086	2	1	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0070	0.0071885	0.0021	0.0199	0.0027	0	0	0.0004	0.0034	6.15e-05	0.0021086	326	154602	rs36210742	0.0011	0.0011	0.0012	0.0010	0.0208	0.0010	0.0010	0.0195	0.0190	0.0208	0.0033	0.0018	0	1.911e-05	0.0029	0.0005	0.0022	8.115e-05	0.0069	0.0069	0.0069	0.0068	0.0212	0.0065	0.0064	0.0201	0.0196	0.0212	0	0.0067	0.0012	0	0	0.0068	0.0005	0.0085	0	.	.	.	.	.	.	0.985	0.61118	D	0.845	0.60432	P	0.000643	0.42656	D	0.105404	1	0.08975	N	1.665	0.42610	L	.	.	.	.	.	.	.	.	-0.9906	0.32449	T	0.007	0.02360	T	10	0.0047141314	0.00099	T	.	.	.	.	.	.	.	.	.	0.2880232652262954	0.28715	.	.	0.221697181463	0.01410	T	0.008825	0.08077	T	-0.66199	0.00061	T	-0.705426	0.05534	T	0.0544882621581406	0.06272	T	0.715628	0.32820	T	0.43667436	0.63188	0.67305386	0.80810	0.43667436	0.63188	0.67305386	0.80811	-9.688	0.72023	D	.	.	0.182	0.39459	B	.;.	.;.	2.642780	0.34393	19.61	0.94938679103200041	0.25830	0.03101	0.08031	N	AEFBI	0.097524	0.19667	N	-0.521525425855912	0.21384	1.135	-0.788336593465527	0.14781	0.7741172	1.44334063771775E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.9	1.33	0.20958	-0.978000	0.03888	.	.	0.409000	0.20633	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.1463:0.0:0.3028:0.5509	6.430	0.20993	814	0.42100	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	0.002711	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	3695.43	34	chr6	29396952	.	T	C	3695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.49;DP=1281;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=0.958;QD=12.2;ReadPosRankSum=1.08;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,144:303:99:0|1:29396952_T_C:3707,0,4323:29396952	9	0	1	0
chr6	30925277	30925277	C	T	exonic	VARS2	.	nonsynonymous SNV	VARS2:NM_001167733:exon26:c.C2257T:p.H753Y,VARS2:NM_001167734:exon27:c.C2767T:p.H923Y,VARS2:NM_020442:exon27:c.C2677T:p.H893Y	Combined oxidative phosphorylation deficiency 20, Autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	.	1881090	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0123608704072	0.0007	0.000399361	0.0002	0	0.0003	0	0	0.0004	0	0	0.0001488	23	154602	rs150792425	7.749e-05	7.798e-05	6.958e-05	8.549e-05	0.0009	6.549e-05	6.151e-05	0.0004	0.0003	0	0.0005	0	0	0	0.0009	6.751e-05	0.0001	0	7.878e-05	7.874e-05	7.708e-05	8.056e-05	0.0003	4.493e-05	3.509e-05	0.0001	8.276e-05	0	0	0.0003	0	0	0	0	0.0001	0	0	0.041	0.45039	D	0.07	0.50809	T	0.199	0.29618	B	0.232	0.38314	B	0.038371	0.24293	N	0.447307	0.766453	0.29483	N	2.74	0.80084	M	2.57	0.13552	T	-0.99	0.26200	N	0.387	0.43899	-1.0473	0.15159	T	0.019	0.08033	T	10	0.057209253	0.06534	T	0.012361	0.30863	T	0.042	0.11227	.	.	0.242244723065	0.23846	0.5352440157074623	0.53449	0.917984465243	0.71321	0.542132198811	0.44747	T	0.002286	0.01681	T	-0.460811	0.00972	T	-0.559151	0.16457	T	0.0980743132191901	0.12144	T	0.782722	0.41876	T	0.11463918	0.27061	0.23695691	0.48981	0.120538324	0.28361	0.29476264	0.55506	-8.564	0.65202	D	.	.	0.086	0.21315	B	.;.;.	.;.;.	2.473183	0.31879	18.87	0.98850443854143677	0.47288	0.82825	0.42001	D	AEFDBI	0.203974	0.33044	N	-0.192616146731012	0.33441	1.897256	-0.0937654399513659	0.35647	2.06486	0.998083950642777	0.36406	0.744818	0.98587	0	0.653731	0.59785	0	0.732433	0.93434	0	0.635551	0.53088	0	.	.	5.4	3.6	0.40374	1.045000	0.29951	.	.	-0.202000	0.08738	0.276000	0.25103	1.000000	0.68203	0.766000	0.36367	0.0:0.8038:0.0:0.1962	7.777	0.28205	917	0.20147	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	946.43	34	chr6	30925277	.	C	T	946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.659;DP=417;ExcessHet=0;FS=0.883;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.071;SOR=0.558	GT:AD:DP:GQ:PL	0/1:34,40:74:99:958,0,849	9	0	1	0
chr6	31139016	31139016	T	C	exonic	PSORS1C2	.	nonsynonymous SNV	PSORS1C2:NM_014069:exon1:c.A11G:p.N4S	.	424	1067	31	0	0	31	0.0143187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0032	0.00559105	0.0051	0.0008	0.0036	0.0005	0.0011	0.0049	0.0055	0.0138	0.0048835	755	154602	rs148095595	0.0037	0.0037	0.0032	0.0042	0.0224	0.0036	0.0036	0.0192	0.0180	0.0008	0.0052	0.0093	0.0002	0.0006	0.0224	0.0029	0.0044	0.0141	0.0035	0.0035	0.0030	0.0040	0.0145	0.0032	0.0031	0.0118	0.0108	0.0006	0	0.0077	0.0072	0.0006	9.416e-05	0.0204	0.0040	0.0057	0.0145	0.479	0.08261	T	0.091	0.40110	T	0.004	0.12183	B	0.003	0.08700	B	0.857925	0.08916	N	0.910449	0.999996	0.58761	D	0.625	0.15840	N	1.94	0.22678	T	-0.3	0.11913	N	0.046	0.01825	-0.9539	0.40292	T	0.010	0.03582	T	10	0.005170852	0.00112	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.058212489981228153	0.05762	0.265596492825	0.29113	0.285623818636	0.08289	T	0.003909	0.03323	T	-0.715145	0.00030	T	-0.788356	0.02210	T	0.00922209648767378	0.00117	T	0.562444	0.19755	T	0.030201409	0.02641	0.026703754	0.00774	0.030201409	0.02641	0.026703754	0.00774	-2.024	0.03273	T	.	.	0.081	0.08368	B	.	.	0.609226	0.09775	6.543	0.9529271797190062	0.26602	0.11298	0.16541	N	AEFDBCI	0.071048	0.14128	N	-1.10584607114366	0.06538	0.3012569	-1.14182271404028	0.06916	0.3345273	0.99999588345578	0.74766	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.562822	0.20929	0	.	.	4.68	-5.52	0.02358	-0.717000	0.05088	.	.	0.597000	0.34315	0.434000	0.26440	0.000000	0.08366	0.803000	0.37862	0.0:0.3563:0.2889:0.3548	5.429	0.15744	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	0.020087	0.005051	0.024457	0.015464	0.000000	0.008621	0.024390	0.011364	0.1	2465.14	59	chr6	31139016	.	T	C	2465.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.3;DP=634;ExcessHet=0.2348;FS=2.174;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.478;SOR=0.849	GT:AD:DP:GQ:PL	0/1:83,54:137:99:1335,0,2172	8	0	2	0
chr6	31162515	31162515	C	T	exonic	TCF19	.	nonsynonymous SNV	TCF19:NM_001077511:exon4:c.C836T:p.A279V,TCF19:NM_007109:exon4:c.C836T:p.A279V,TCF19:NM_001318908:exon5:c.C836T:p.A279V	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0098	0.0121805	0.0069	0.0208	0.0043	0.0004	0.0009	0.0051	0.0058	0.0141	0.0061836	956	154602	rs77870954	0.0043	0.0043	0.0039	0.0048	0.0238	0.0042	0.0042	0.0205	0.0197	0.0215	0.0064	0.0093	0.0002	0.0006	0.0238	0.0030	0.0058	0.0143	0.0088	0.0088	0.0085	0.0092	0.0189	0.0084	0.0083	0.0178	0.0173	0.0189	0	0.0098	0.0072	0.0006	9.429e-05	0.0238	0.0042	0.0095	0.0146	0.145	0.25154	T	0.308	0.19845	T	0.0	0.02946	B	0.0	0.01387	B	0.446526	0.04790	N	1.335570	0.999994	0.08975	N	1.1	0.28011	L	1.92	0.23082	T	-0.8	0.22078	N	0.026	0.01004	-0.9747	0.36191	T	0.014	0.05513	T	10	0.0027285218	0.00042	T	.	.	.	0.003	0.00094	.	.	0.0551355673512	0.04727	0.38362942939470823	0.38277	0.49660854432	0.48164	0.361448168755	0.19597	T	0.002216	0.01614	T	-0.725905	0.00025	T	-0.800552	0.01889	T	0.000636903538643171	0.00006	T	0.330167	0.06908	T	0.039620284	0.05505	0.02574424	0.00631	0.039620284	0.05504	0.02574424	0.00630	-3.514	0.16628	T	.	.	0.075	0.05668	B	.;.	.;.	-0.265624	0.02772	0.375	0.9307783710340356	0.22696	0.01652	0.05304	N	AEFDBHCI	0.065613	0.12808	N	-1.19943932523531	0.05010	0.2273709	-1.22629162905742	0.05491	0.2617625	0.999999986182396	0.74766	0.839682	0.99964	0	0.685571	0.66316	0	0.736553	0.94036	0	0.683762	0.67416	0	.	.	4.74	-0.546	0.11248	-1.094000	0.03470	.	.	-0.880000	0.02471	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3883:0.4132:0.118:0.0806	4.204	0.09939	929	0.16858	.;.	.	.	.	.	rs116585049	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023810	0.010101	0.032609	0.016393	0.000000	0.008772	0.024390	0.011364	0.1	2056.14	35	chr6	31162515	.	C	T	2056.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.046;DP=469;ExcessHet=0.2348;FS=1.151;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.895;SOR=0.815	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1229,0,1497	8	0	2	0
chr6	31271207	31271207	G	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C485A:p.T162N,HLA-C:NM_002117:exon3:c.C485A:p.T162N	.	2	1446	73	1	0	75	0.0252781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.0285	0.0253	0.0185	0.0022	0.0219	0.0416	0.0234	0.0065	0.0026002	402	154602	rs2308584	0.0010	0.0090	0.0010	0.0010	0.0035	0.0009	0.0009	0.0028	0.0026	0.0035	0.0033	0.0073	0.0002	0.0004	0.0017	0.0008	0.0014	0.0005	0.0001	0.0090	8.544e-05	0.0001	0.0001	4.799e-05	3.361e-05	5.375e-05	3.509e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.063	0.45110	T	0.045	0.21781	B	0.16	0.34752	B	0.009683	0.01250	U	771.080000	1	0.08975	N	.	.	.	9.44	0.00008	T	-3.35	0.68298	D	0.07	0.04307	-0.9506	0.40868	T	0.000	0.00075	T	10	0.0056905746	0.00126	T	.	.	.	0.186	0.46104	.	.	.	.	0.11310932799472559	0.11238	0.614770505073	0.55979	0.328787267208	0.14750	T	0.015394	0.12921	T	-0.50846	0.00512	T	-0.468836	0.25641	T	0.0708414355338504	0.08768	T	0.00459954	0.00014	T	.	.	.	.	.	.	.	.	-8.6	0.65089	D	.	.	0.183	0.39647	B	.;.;.	.;.;.	1.252472	0.16495	12.58	0.70026550487147099	0.09162	0.01832	0.05685	N	AEFDGBHCI	0.138209	0.25943	N	-1.20749607607456	0.04889	0.2216519	-1.4198435015477	0.03054	0.1417363	0.999999918893126	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.67	0.05703	-3.847000	0.00395	.	.	-3.701000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4359:0.0:0.5641:0.0	8.222	0.30707	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	chr6:31238984	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.053571	0.095960	0.072011	0.029412	0.050000	0.051724	0.033951	0.022727	0.05	1054.43	203	chr6	31271207	.	G	T	1054.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.27;DP=1551;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.55;MQRankSum=-5.938;QD=5.49;ReadPosRankSum=-3.333;SOR=0.714	GT:AD:DP:GQ:PL	0/1:154,38:192:99:1066,0,6327	9	0	1	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	23122.8	42	chr6	31356181	.	T	*	23122.8	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.94;DP=629;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.5;MQRankSum=-7.748;QD=29.51;ReadPosRankSum=-2.474;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,7:44:99:0|1:31356181_T_G:1807,1221,1134:31356181	9	0	1	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1867.08	18	chr6	31356716	.	CA	*	1867.08	.	AC=11;AF=0.55;AN=20;DP=445;ExcessHet=1.4371;FS=12.356;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.65;QD=4.56;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,7:55:99:0|1:31356711_C_CGGAG:149,0,1994:31356711	2	3	5	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1822.08	18	chr6	31356719	.	GT	*	1822.08	.	AC=11;AF=0.55;AN=20;DP=448;ExcessHet=1.4371;FS=12.366;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.46;QD=4.42;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,7:56:99:0|1:31356711_C_CGGAG:146,0,2036:31356711	2	3	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	4775.72	32	chr6	31356748	.	CCT	*	4775.72	.	AC=12;AF=0.6;AN=20;BaseQRankSum=4.05;DP=659;ExcessHet=0;FS=8.576;InbreedingCoeff=-0.0526;MLEAC=12;MLEAF=0.6;MQ=54.11;MQRankSum=-8.251;QD=7.29;ReadPosRankSum=-1.343;SOR=1.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,56:73:99:0|1:31356711_C_CGGAG:3056,705,536:31356711	3	5	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	7688.91	119	chr6	31356827	.	T	*	7688.91	.	AC=14;AF=0.7;AN=20;DP=1309;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=14;MLEAF=0.7;MQ=53.95;QD=6.02;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,51:126:99:1|0:31356785_C_T:1915,0,2991:31356785	1	5	4	0
chr6	31576785	31576785	C	T	exonic	TNF	.	nonsynonymous SNV	TNF:NM_000594:exon3:c.C251T:p.P84L	.	0	1456	62	4	0	70	0.0234742	.	.	.	710405	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.188	0.0119564785465	0.0019	0.000599042	0.0024	0.0003	0.0023	0.0001	0.0003	0.0028	0.0034	0.0041	0.0021345	330	154602	rs4645843	0.0018	0.0018	0.0017	0.0020	0.0184	0.0018	0.0018	0.0155	0.0145	0.0009	0.0029	0.0106	0	0.0002	0.0184	0.0014	0.0028	0.0045	0.0016	0.0016	0.0016	0.0016	0.0023	0.0015	0.0014	0.0017	0.0016	0.0003	0	0.0023	0.0109	0.0004	0.0002	0.0136	0.0020	0.0033	0.0021	0.145	0.25154	T	0.296	0.20615	T	0.007	0.14184	B	0.003	0.08700	B	0.084445	0.02389	N	1.798360	1	0.08975	N	1.25	0.31749	L	-2.04	0.85703	D	-0.66	0.19085	N	0.056	0.02759	-0.9293	0.44241	T	0.211	0.57067	T	10	0.0046066046	0.00096	T	0.011956	0.30096	T	0.188	0.46444	.	.	0.967945040658	0.96760	0.4098653570155833	0.40902	0.568028422092	0.53036	0.283045470715	0.07921	T	0.100786	0.40693	T	-0.488641	0.00661	T	-0.474409	0.25042	T	0.0327934610997307	0.02437	T	.	.	.	0.11627148	0.27428	0.08679749	0.20134	0.22171228	0.44754	0.104951486	0.25217	-3.833	0.21298	T	.	.	0.082	0.08754	B	.	.	1.914172	0.24313	16.35	0.91227581667590563	0.20484	0.04532	0.10164	N	AEFDBCI	0.061633	0.11797	N	-0.847107772778044	0.12121	0.588936	-0.844081313660175	0.13430	0.696636	0.999991238544582	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.62	0.019	0.13440	-0.178000	0.09775	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.535:0.364:0.0:0.101	5.542	0.16328	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.022331	0.000000	0.048913	0.005319	0.000000	0.017241	0.006098	0.007576	0.05	2752.43	33	chr6	31576785	.	C	T	2752.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.436;DP=519;ExcessHet=0;FS=4.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=1.89;SOR=0.843	GT:AD:DP:GQ:PL	0/1:100,113:213:99:2764,0,2256	9	0	1	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4335.04	114	chr6	31625601	.	T	C	4335.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.295;DP=1214;ExcessHet=22.563;FS=219.133;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.54;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,25:141:99:0|1:31625601_T_C:325,0,4186:31625601	0	0	10	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5289.04	114	chr6	31625602	.	G	A	5289.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.245;DP=1213;ExcessHet=22.563;FS=261.515;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=1.66;SOR=10.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,54:149:99:.:.:880,0,2129:.	0	0	10	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3419.5	287	chr6	32521970	.	G	*	3419.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=4.23;DP=2130;ExcessHet=7.0302;FS=3.886;InbreedingCoeff=-0.5385;MLEAC=4;MLEAF=0.2;MQ=55.93;MQRankSum=-7.81;QD=1.83;ReadPosRankSum=-7.2;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,112:157:99:0|1:32521957_G_A:4567,0,1552:32521957	6	0	4	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7726.93	271	chr6	32521978	.	GT	*	7726.93	.	AC=7;AF=0.35;AN=20;BaseQRankSum=5.95;DP=2005;ExcessHet=7.0302;FS=9.754;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=54.56;MQRankSum=-6.638;QD=4.12;ReadPosRankSum=-4.747;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,90:132:99:0|1:32521957_G_A:3653,0,1493:32521957	5	2	3	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28429.7	110	chr6	32530184	.	T	*	28429.7	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.814;DP=1127;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=56.79;MQRankSum=-1.487;QD=26.57;ReadPosRankSum=-1.486;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,48:48:99:1|1:32530183_CTT_C:2140,144,0:32530183	4	4	2	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	33773.0	110	chr6	32530185	.	T	*	33773.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.232;DP=1115;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=8;MLEAF=0.4;MQ=56.87;MQRankSum=-1.487;QD=31.5;ReadPosRankSum=-1.623;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,48:48:99:1|1:32530183_CTT_C:2140,144,0:32530183	5	3	2	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5657.87	185	chr6	32584171	.	G	*	5657.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.372;DP=1605;ExcessHet=0.3701;FS=1.544;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=50.25;MQRankSum=4.49;QD=5.63;ReadPosRankSum=5.41;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,168:181:40:0|1:32584162_G_T:6971,0,40:32584162	5	1	4	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	26398.6	196	chr6	32584177	.	CG	*	26398.6	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.13;DP=1758;ExcessHet=0.0657;FS=0.744;InbreedingCoeff=0.3939;MLEAC=3;MLEAF=0.15;MQ=51.98;MQRankSum=3.87;QD=25.38;ReadPosRankSum=2.53;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,15:187:99:0|1:32584162_G_T:7852,7222,7177:32584162	7	0	3	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	2923.01	196	chr6	32584178	.	G	*	2923.01	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.57;DP=1798;ExcessHet=0.3131;FS=0;InbreedingCoeff=0.2;MLEAC=9;MLEAF=0.45;MQ=55.21;MQRankSum=-7.546;QD=2.67;ReadPosRankSum=-1.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,172:187:99:1|1:32584162_G_T:7740,518,0:32584162	4	3	3	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	26425.4	342	chr6	32584370	.	G	*	26425.4	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.65;DP=2365;ExcessHet=0.2065;FS=9.525;InbreedingCoeff=0.2;MLEAC=7;MLEAF=0.35;MQ=54.75;MQRankSum=-13.78;QD=11.54;ReadPosRankSum=-2.424;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,173:312:99:0|1:32584279_A_G:13461,5858,5311:32584279	3	0	7	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3665.7	286	chr6	32641444	.	G	*	3665.7	.	AC=8;AF=0.4;AN=20;DP=1693;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.37;QD=3.34;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,115:115:99:1|1:32641430_C_T:5175,346,0:32641430	4	2	4	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3623.7	286	chr6	32641445	.	A	*	3623.7	.	AC=8;AF=0.4;AN=20;DP=1691;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.52;QD=3.31;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,115:115:99:1|1:32641430_C_T:5175,346,0:32641430	4	2	4	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641462	.	G	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1723;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.07;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,109:109:99:1|1:32641430_C_T:4905,328,0:32641430	5	2	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641464	.	T	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1725;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.12;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,109:109:99:1|1:32641430_C_T:4905,328,0:32641430	5	2	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7913.28	297	chr6	32641501	.	G	*	7913.28	.	AC=7;AF=0.35;AN=20;DP=1762;ExcessHet=0.0059;FS=1.741;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.11;QD=8.07;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,86:86:99:1|1:32641476_G_A:3870,259,0:32641476	5	2	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7853.28	315	chr6	32641522	.	A	*	7853.28	.	AC=7;AF=0.35;AN=20;DP=1846;ExcessHet=0.0059;FS=0.525;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.47;QD=7.54;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,90:90:99:1|1:32641476_G_A:3910,271,0:32641476	5	2	3	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, 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	.	.	.	.	.	.	.	.	0.2	36210.8	168	chr6	32664917	.	C	A	36210.8	.	AC=4;AF=0.2;AN=20;BaseQRankSum=5.83;DP=2277;ExcessHet=0.0059;FS=2.897;InbreedingCoeff=0.6;MLEAC=4;MLEAF=0.2;MQ=59.06;MQRankSum=-1.713;QD=31.22;ReadPosRankSum=1.13;SOR=0.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,28:182:99:.:.:7611,6436,6351:.	6	0	4	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	3476.57	175	chr6	32664926	.	G	A	3476.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=7.2;DP=2299;ExcessHet=1.5895;FS=1.445;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.12;MQRankSum=-7.617;QD=5.29;ReadPosRankSum=-3.501;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,40:195:99:0|1:32664911_T_G:1213,0,6388:32664911	6	0	4	0
chr6	32829996	32829996	T	C	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon10:c.A1729G:p.M577V,TAP2:NM_018833:exon10:c.A1729G:p.M577V	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	1	1499	20	2	0	24	0.00794176	.	.	.	1155335	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.245	.	0.0008	0.0301518	0.0135	0.0012	0.0005	0.0914	0.0002	0.0006	0.0229	0.0440	0.0119468	1847	154602	rs2228391	0.0054	0.0054	0.0043	0.0065	0.0808	0.0053	0.0053	0.0785	0.0775	0.0010	0.0004	0.0003	0.0808	7.64e-05	0.0040	0.0004	0.0083	0.0427	0.0055	0.0055	0.0040	0.0071	0.0948	0.0052	0.0051	0.0879	0.0851	0.0007	0	0.0005	0.0012	0.0948	0	0.0034	0.0004	0.0080	0.0532	0.798	0.18122	T	0.59	0.12037	T	0.003	0.11197	B	0.007	0.12992	B	0.420975	0.12871	N	0.701585	.	.	.	-0.655	0.02084	N	-2.56	0.89627	D	-0.38	0.13805	N	0.035	0.01004	-1.0652	0.10502	T	0.177	0.52146	T	9	0.0018317103	0.00024	T	.	.	.	0.245	0.55201	.	.	.	.	0.39621706378244653	0.39536	0.463953477707	0.45884	0.289935529232	0.08913	T	0.194478	0.55027	T	-0.443903	0.01227	T	-0.33566	0.40836	T	0.00255174892571557	0.00027	T	0.455254	0.13018	T	0.050581872	0.09161	0.10338751	0.24805	0.050581872	0.09161	0.10338751	0.24804	-4.227	0.28816	T	.	.	0.101	0.17402	B	.;.;.;.	.;.;.;.	-0.409092	0.02180	0.214	0.55239157411957363	0.05301	0.18226	0.20172	N	AEFBI	0.087900	0.17821	N	-1.27513763532247	0.03977	0.1786684	-1.27220721765469	0.04810	0.2277881	0.999976508814831	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.17	-4.93	0.02839	-1.770000	0.01889	.	.	-0.155000	0.11859	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.0745:0.6262:0.2994	11.115	0.47476	934	0.15400	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	rs2228391	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009259	0.000000	0.004076	0.005319	0.050000	0.000000	0.003049	0.018939	0.05	1500.43	35	chr6	32829996	.	T	C	1500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.118;DP=568;ExcessHet=0;FS=1.335;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.192;SOR=0.62	GT:AD:DP:GQ:PL	0/1:70,69:139:99:1512,0,1776	9	0	1	0
chr6	32976813	32976813	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon6:c.G1077C:p.E359D,BRD2:NM_001199456:exon6:c.G936C:p.E312D,BRD2:NM_001113182:exon7:c.G1077C:p.E359D,BRD2:NM_005104:exon7:c.G1077C:p.E359D,BRD2:NM_001291986:exon8:c.G717C:p.E239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00495405745945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.37118	T	0.074	0.50809	T	0.859	0.47319	P	0.583	0.50264	P	0.000100	0.51296	D	0.000000	0.999954	0.52396	D	1.39	0.34934	L	1.69	0.27032	T	-2.46	0.54382	N	0.374	0.41656	-0.9159	0.46103	T	0.139	0.45791	T	10	0.7555315	0.75953	D	0.004954	0.12473	T	0.214	0.50650	0.764	0.89213	0.795092722254	0.79318	0.38390423038742355	0.38305	.	.	0.88716673851	0.94903	D	0.25597	0.62682	T	-0.0318077	0.47154	T	-0.283466	0.46448	T	0.861240744590759	0.51164	D	0.932807	0.74830	D	0.2851387	0.51537	0.24049516	0.49424	0.2851387	0.51536	0.24049516	0.49423	-8.011	0.62707	D	.	.	0.316	0.68110	B	.;.;.;.;.	.;.;.;.;.	1.317149	0.17209	13.02	0.99724235207631218	0.82266	0.64946	0.32573	D	AEFBHCI	0.651563	0.62527	D	-0.254297126603731	0.30933	1.729516	-0.327949304023803	0.27200	1.507636	0.999993130444119	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.08	-0.139	0.12803	0.063000	0.14285	.	.	-0.748000	0.03609	0.005000	0.17040	0.997000	0.33255	0.984000	0.60418	0.4072:0.0:0.5928:0.0	9.394	0.37553	906	0.23090	Bromodomain|Bromodomain;Bromodomain|Bromodomain;Bromodomain|Bromodomain;.;Bromodomain|Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1057.03	121	chr6	32976813	.	G	C	1057.03	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.921;DP=1348;ExcessHet=4.5998;FS=168.259;InbreedingCoeff=-0.4406;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=1.24;SOR=10.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,31:151:99:0|1:32976813_G_C:159,0,3597:32976813	7	0	2	1
chr6	33412304	33412304	C	T	exonic	PHF1	.	nonsynonymous SNV	PHF1:NM_002636:exon2:c.C41T:p.S14L,PHF1:NM_024165:exon2:c.C41T:p.S14L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00566197226739	7.7e-05	.	1.657e-05	0	0	0	0	3.018e-05	0	0	1.94e-05	3	154602	rs368297880	7.525e-06	7.524e-06	8.168e-06	6.876e-06	4.472e-05	4.04e-06	2.95e-06	7.41e-06	2.77e-06	2.988e-05	4.472e-05	0	0	0	0	6.295e-06	1.656e-05	0	3.284e-05	3.283e-05	1.284e-05	5.377e-05	5.879e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0.0003	0	0	0	5.879e-05	0	0	0.032	0.44694	D	0.385	0.26798	T	0.001	0.07471	B	0.001	0.04355	B	0.327534	0.14169	N	0.632337	0.980531	0.25105	N	0	0.06538	N	1.5	0.31205	T	-0.51	0.16187	N	0.276	0.31253	-1.0267	0.21527	T	0.018	0.07376	T	10	0.08998859	0.15637	T	0.005662	0.14651	T	0.036	0.09122	.	.	0.2338531098	0.23012	0.3442285029951862	0.34336	0.265133399698	0.29071	0.497548162937	0.38486	T	0.031319	0.21988	T	-0.286559	0.09983	T	-0.541742	0.18126	T	0.0930412963356647	0.11574	T	0.925307	0.72522	D	0.15199476	0.34525	0.08908237	0.20810	0.15199476	0.34525	0.08908237	0.20810	-3.926	0.24177	T	.	.	0.087	0.12750	B	.;.;.;.	.;.;.;.	3.242384	0.44262	21.9	0.99621576094480668	0.75473	0.43576	0.27128	N	AEFBCI	0.130028	0.24843	N	-0.357621476890357	0.26993	1.477552	-0.182306445633408	0.32186	1.828701	0.999956745298824	0.48110	0.660085	0.49399	0	0.662677	0.63036	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.0	4.06	0.46572	1.017000	0.29591	2.847000	0.35116	0.599000	0.40250	0.399000	0.26162	0.994000	0.32194	0.960000	0.51673	0.2974:0.7026:0.0:0.0	9.944	0.40767	364	0.84707	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1267.43	40	chr6	33412304	.	C	T	1267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=444;ExcessHet=0;FS=0.685;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.036;SOR=0.614	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1279,0,1429	9	0	1	0
chr6	33728174	33728174	G	A	exonic	IP6K3	.	nonsynonymous SNV	IP6K3:NM_054111:exon3:c.C326T:p.T109M,IP6K3:NM_001142883:exon4:c.C326T:p.T109M	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0322342953289	0.0040	0.00199681	0.0022	0.0049	0.0020	0.0001	0	0.0021	0.0011	0.0036	0.0021604	334	154602	rs150896095	0.0016	0.0016	0.0016	0.0017	0.0076	0.0016	0.0016	0.0058	0.0055	0.0065	0.0028	0.0028	2.519e-05	0.0002	0.0076	0.0013	0.0024	0.0038	0.0031	0.0031	0.0033	0.0029	0.0060	0.0029	0.0028	0.0054	0.0051	0.0060	0	0.0042	0.0037	0	9.418e-05	0.0102	0.0018	0.0071	0.0017	0.112	0.28900	T	0.115	0.36630	T	0.992	0.64738	D	0.549	0.49194	P	0.419610	0.04640	N	1.337040	0.995247	0.23338	N	2.52	0.73523	M	-0.04	0.63240	T	-0.91	0.24460	N	0.278	0.31478	-0.9768	0.35727	T	0.145	0.46859	T	10	0.0071498156	0.00162	T	0.032234	0.54117	D	0.159	0.41286	.	.	0.75764659095	0.75544	0.23401076173292826	0.23316	0.363397901793	0.37968	0.328446745872	0.14700	T	0.008565	0.07859	T	-0.431873	0.01444	T	-0.39149	0.34377	T	0.026335940910225	0.01451	T	0.761424	0.38629	T	0.019829847	0.00522	0.03587812	0.02925	0.019829847	0.00522	0.03587812	0.02924	-5.098	0.37886	T	.	.	0.078	0.07318	B	.;.	.;.	2.599617	0.33743	19.43	0.99642368235853584	0.76756	0.76282	0.37400	D	AEFDBI	0.285381	0.39802	N	0.0261345817811165	0.43045	2.605293	-0.0708603272587964	0.36600	2.132096	0.748086210377825	0.23316	0.516011	0.20929	0	0.563428	0.19063	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.39	0.697	0.17242	2.797000	0.47570	3.734000	0.39628	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.961000	0.51904	0.0:0.1157:0.2706:0.6137	8.510	0.32372	668	0.61153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010101	0.015152	0.012228	0.011765	0.000000	0.008621	0.006135	0.007576	0.05	1445.43	34	chr6	33728174	.	G	A	1445.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.8;DP=507;ExcessHet=0;FS=1.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.512;SOR=0.73	GT:AD:DP:GQ:PL	0/1:67,55:122:99:1457,0,1632	9	0	1	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	139.65	56	chr6	34528878	.	G	C	139.65	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.21;DP=617;ExcessHet=2.8389;FS=196.238;InbreedingCoeff=-0.5972;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=2.19;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,16:55:21:.:.:21,0,614:.	1	0	4	5
chr6	35287805	35287805	G	C	exonic	ZNF76	.	nonsynonymous SNV	ZNF76:NM_001292032:exon5:c.G392C:p.S131T,ZNF76:NM_003427:exon5:c.G392C:p.S131T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00415693157155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs760624974	6.17e-06	6.156e-06	1.364e-06	1.103e-05	0.0002	2.9e-06	2.1e-06	5.873e-05	3.774e-05	0.0002	0	0	0	0	0	0	1.659e-05	3.496e-05	2.627e-05	2.626e-05	3.852e-05	1.344e-05	9.642e-05	8.14e-06	5.14e-06	3.247e-05	1.913e-05	9.642e-05	0	0	0	0	0	0	0	0	0	0.061	0.39097	T	0.178	0.53788	T	0.0	0.14184	B	0.0	0.24114	B	0.025514	0.26076	N	0.270585	1	0.08975	N	.	.	.	3.0	0.09167	T	-0.9	0.24244	N	0.192	0.27316	-0.9352	0.43364	T	0.005	0.01578	T	10	0.07779297	0.12321	T	0.004157	0.09995	T	0.058	0.16647	0.249	0.18602	0.0138822411134	0.00435	0.21124229796370744	0.21040	0.165898034849	0.18718	0.348670721054	0.17727	T	0.02539	0.18993	T	-0.381055	0.03069	T	-0.785136	0.02302	T	0.0881339027310744	0.10994	T	0.49745	0.16594	T	0.036553107	0.04519	0.055684447	0.09815	0.036553107	0.04518	0.055684447	0.09814	-5.268	0.39625	T	.	.	0.098	0.16054	B	.;.;.	.;.;.	0.702009	0.10706	7.401	0.90240609709055652	0.19512	0.58067	0.30543	D	AEFBI	0.250290	0.37036	N	-1.09906076817682	0.06661	0.3072676	-1.04955098253282	0.08716	0.4299248	0.984267307553945	0.30690	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	0.375	0.15419	2.408000	0.44227	1.744000	0.28423	-2.839000	0.00176	0.601000	0.27755	0.006000	0.19429	0.840000	0.39645	0.4805:0.1455:0.3739:0.0	5.359	0.15383	297	0.88113	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	2070.43	33	chr6	35287805	.	G	C	2070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=459;ExcessHet=0;FS=1.41;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.006;SOR=0.557	GT:AD:DP:GQ:PL	0/1:70,75:145:99:2082,0,1861	9	0	1	0
chr6	35748542	35748542	A	C	exonic	ARMC12	.	nonsynonymous SNV	ARMC12:NM_001286574:exon6:c.A695C:p.H232P,ARMC12:NM_145028:exon6:c.A776C:p.H259P	.	433	1067	21	1	0	23	0.010663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00634508766509	0.0031	0.00219649	0.0021	0.0064	0.0018	0.0001	0.0002	0.0020	0	0.0021	0.0019146	296	154602	rs112217683	0.0014	0.0014	0.0013	0.0015	0.0107	0.0013	0.0013	0.0085	0.0077	0.0059	0.0022	0.0080	2.738e-05	0.0003	0.0107	0.0011	0.0022	0.0019	0.0028	0.0028	0.0029	0.0027	0.0051	0.0026	0.0025	0.0045	0.0043	0.0051	0.0296	0.0018	0.0081	0	0.0002	0.0068	0.0016	0.0047	0.0021	0.237	0.17881	T	0.243	0.24193	T	0.0	0.02946	B	0.003	0.08700	B	0.048323	0.23261	N	0.366698	1	0.22879	N	1.52	0.38360	L	0.02	0.62318	T	3.45	0.00121	N	0.518	0.54845	-1.0344	0.19046	T	0.041	0.17657	T	10	0.0049612224	0.00106	T	0.006345	0.16668	T	0.059	0.16972	.	.	0.397691132334	0.39381	0.5949043647100937	0.59420	0.175494679042	0.19754	0.482856690884	0.36450	T	0.009311	0.08481	T	-0.428359	0.01516	T	-0.385889	0.35032	T	0.00151927204601168	0.00015	T	0.530647	0.17608	T	0.06890074	0.15049	0.06611069	0.13496	0.06890074	0.15049	0.06611069	0.13496	-3.491	0.16306	T	.	.	0.122	0.25560	B	.;.	.;.	1.792031	0.22780	15.76	0.83981245221982426	0.15029	0.15495	0.18940	N	AEFBI	0.160584	0.28653	N	-0.787983469773123	0.13622	0.6724289	-0.731953790953558	0.16168	0.853948	3.23453867622665E-4	0.06540	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.76	1.16	0.19936	1.160000	0.31372	2.964000	0.35768	0.756000	0.94297	0.363000	0.25867	0.949000	0.28973	0.962000	0.52141	0.4847:0.1954:0.3198:0.0	3.825	0.08363	675	0.60470	.;Armadillo repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.015152	0.025815	0.005848	0.000000	0.017241	0.018293	0.003788	0.05	1658.43	37	chr6	35748542	.	A	C	1658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.508;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.84;SOR=0.775	GT:AD:DP:GQ:PL	0/1:62,62:124:99:1670,0,1589	9	0	1	0
chr6	38898367	38898367	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon60:c.C8399T:p.T2800I,DNAH8:NM_001206927:exon61:c.C9050T:p.T3017I	.	.	.	.	.	.	.	.	.	.	.	455791	Primary_ciliary_dyskinesia|not_specified	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.00697687297508	.	.	8.288e-06	9.666e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs776762950	5.624e-06	5.473e-06	6.983e-06	4.246e-06	0.0007	2.42e-06	1.75e-06	0.0002	0.0001	0	2.824e-05	0	0	0	0.0007	9.1e-07	3.397e-05	0	6.572e-06	6.568e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.715	0.04107	T	.	.	.	0.094	0.25382	B	0.04	0.23831	B	0.000005	0.62929	D	0.104934	0.969818	0.40550	D	-0.475	0.02701	N	1.07	0.39586	T	0.38	0.04022	N	0.816	0.85766	-1.0689	0.09657	T	0.026	0.11220	T	10	0.472174	0.59928	T	0.006977	0.18485	T	0.193	0.47281	0.47	0.54376	0.568785453283	0.56543	0.44343222597782816	0.44261	0.158171497314	0.17861	0.672454178333	0.63188	T	0.004828	0.04332	T	0.0592882	0.59524	T	-0.0300685	0.68364	D	0.109383237028996	0.13359	T	0.933407	0.75104	D	0.12600732	0.29525	0.15078309	0.35545	0.12600732	0.29525	0.15078309	0.35544	-3.779	0.20491	T	.	.	0.089	0.12371	B	.;.;.	.;.;.	3.002893	0.40130	21.1	0.92409178485141608	0.21823	0.88461	0.48399	D	AEFI	0.210885	0.33673	N	-0.153903289981328	0.35069	2.009667	0.102970297227831	0.44701	2.74673	0.0372659384791928	0.14288	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.84	5.84	0.93373	2.021000	0.40640	3.335000	0.37659	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9282:0.0:0.0718	13.347	0.60017	563	0.71062	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	579.43	35	chr6	38898367	.	C	T	579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=392;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.436;SOR=0.757	GT:AD:DP:GQ:PL	0/1:40,28:68:99:591,0,945	9	0	1	0
chr6	42178814	42178814	A	G	exonic	GUCA1A	.	nonsynonymous SNV	GUCA1A:NM_001384910:exon3:c.A364G:p.I122V,GUCA1A:NM_001319062:exon4:c.A364G:p.I122V,GUCA1A:NM_000409:exon5:c.A364G:p.I122V,GUCA1A:NM_001319061:exon5:c.A364G:p.I122V	Cone dystrophy-3, Autosomal dominant;Cone-rod dystrophy 14, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177235	not_provided|Cone_dystrophy_3|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0011193,MedGen:C1865869,OMIM:602093,Orphanet:1872|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.374	0.0438338464583	0.0002	.	0.0001	0	0	0.0001	0	0.0001	0	0.0002	9.06e-05	14	154602	rs372323165	7.324e-05	7.456e-05	5.993e-05	8.667e-05	0.0005	6.184e-05	5.745e-05	0.0001	9.452e-05	0	6.708e-05	0.0008	5.038e-05	0	0.0005	5.039e-05	9.939e-05	0.0002	1.972e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0.0005	0	0.012	0.54683	D	0.314	0.25748	T	0.042	0.21471	B	0.026	0.20792	B	0.000272	0.00546	U	7.913040	0.999965	0.52935	D	2.25	0.63811	M	-0.54	0.70950	T	-0.46	0.14978	N	0.469	0.53884	-0.8489	0.52044	T	0.230	0.59620	T	10	0.18635753	0.34097	T	0.043834	0.61186	D	0.374	0.69273	.	.	0.597841522426	0.59464	0.4979039659284777	0.49711	0.200253667059	0.22427	0.5781468153	0.49825	T	0.184893	0.53769	T	-0.149352	0.28414	T	-0.192631	0.55342	T	0.0959443583489875	0.11904	T	0.882412	0.60266	D	0.23543674	0.46379	0.2713148	0.53031	0.23543674	0.46379	0.2713148	0.53030	-3.761	0.20223	T	0.2828258516067627	0.37840	0.204	0.44462	B	.;.;.;.	.;.;.;.	3.737450	0.53497	23.4	0.99643808296730874	0.76819	0.96814	0.71082	D	AEFDBI	0.849482	0.76630	D	0.0956469931508233	0.46258	2.869076	0.222418550221471	0.51093	3.29494	0.999999999839896	0.74766	0.766844	0.99359	0	0.547309	0.14657	0	0.851219	0.99655	0	0.542086	0.14980	0	.	.	4.63	4.63	0.57175	7.088000	0.76565	10.996000	0.84725	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.009	0.52568	752	0.51611	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1775.43	42	chr6	42178814	.	A	G	1775.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.609;DP=501;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.104;SOR=0.675	GT:AD:DP:GQ:PL	0/1:96,78:174:99:1787,0,2520	9	0	1	0
chr6	43144544	43144544	G	T	exonic	PTK7	.	nonsynonymous SNV	PTK7:NM_152881:exon12:c.G1955T:p.R652L,PTK7:NM_152880:exon14:c.G2225T:p.R742L,PTK7:NM_152882:exon14:c.G2177T:p.R726L,PTK7:NM_001270398:exon15:c.G2369T:p.R790L,PTK7:NM_002821:exon15:c.G2345T:p.R782L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.750	0.406961162469	.	.	7.427e-05	0	0	0.0005	0	3.001e-05	0.0011	0.0001	6.47e-05	10	154602	rs746367585	7.046e-05	7.114e-05	7.215e-05	6.876e-05	0.0009	5.913e-05	5.523e-05	0.0006	0.0006	0	0	0	0.0009	0	0	2.698e-05	0.0002	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.018	0.65419	D	0.001	0.83351	D	0.468	0.53479	P	0.213	0.60107	B	0.000000	0.84330	D	0.052940	0.999997	0.58761	D	1.905	0.50856	L	-2.41	0.88533	D	-3.39	0.67241	D	0.842	0.83781	0.494	0.90460	D	0.691	0.89331	D	10	0.32541254	0.49852	T	0.406961	0.93517	D	0.750	0.91413	0.368	0.37687	0.730444620846	0.72804	0.3992564687988433	0.39840	0.480654688563	0.47082	0.614931225777	0.55012	T	0.400	0.75784	T	0.0402801	0.57082	T	0.162814	0.80979	D	0.122018768362937	0.14626	T	0.931607	0.74555	D	0.43917695	0.63350	0.27998865	0.53971	0.43917695	0.63350	0.27998865	0.53970	-10.538	0.80062	D	.	.	0.128	0.46238	B	.;.;.;.;.;.	.;.;.;.;.;.	3.810618	0.54964	23.6	0.99740477766539326	0.83482	0.98781	0.86770	D	AEFDBI	0.917481	0.88516	D	0.233921266621625	0.52848	3.456633	0.288624603283167	0.54874	3.651265	0.999999999240903	0.74766	0.719381	0.83141	0	0.670034	0.63936	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.49	4.61	0.56724	7.344000	0.78567	9.887000	0.82244	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0711:0.0:0.9289:0.0	14.565	0.67763	236	0.90801	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2639.43	36	chr6	43144544	.	G	T	2639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.113;DP=464;ExcessHet=0;FS=2.12;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.33;ReadPosRankSum=-1.92;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,69:144:99:0|1:43144544_G_T:2651,0,2931:43144544	9	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	847.28	87	chr6	44229406	.	C	T	847.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.766;DP=1080;ExcessHet=4.5998;FS=191.883;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.722;SOR=10.911	GT:AD:DP:GQ:PL	0/1:85,34:119:96:96,0,1651	1	0	6	3
chr6	47682327	47682327	C	T	exonic	ADGRF2	.	stopgain	ADGRF2:NM_001368115:exon6:c.C1768T:p.R590X,ADGRF2:NM_153839:exon7:c.C1564T:p.R522X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0009	0	0.0005	0.0066	0	0.0003	0	0.0018	0.0008021	124	154602	rs147106931	0.0004	0.0004	0.0004	0.0004	0.0050	0.0004	0.0004	0.0044	0.0042	0	0.0003	0	0.0050	7.489e-05	0.0003	0.0002	0.0004	0.0017	0.0003	0.0003	0.0003	0.0004	0.0042	0.0002	0.0002	0.0029	0.0024	4.81e-05	0	6.535e-05	0	0.0042	9.409e-05	0	0.0002	0.0009	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	0.000625	0.42799	D	0.099000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.211	0.25006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217649	0.75552	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	2.110934	0.26865	17.27	0.99700686716510489	0.80591	0.29850	0.23930	N	AEFGI	0.218575	0.34356	N	0.524303540426637	0.68531	5.230059	0.327168960504232	0.57143	3.878979	0.00804207447029652	0.11599	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	4.6	0.56512	0.548000	0.23022	0.822000	0.21862	0.599000	0.40250	0.030000	0.20431	0.030000	0.21233	0.231000	0.22761	0.2654:0.6469:0.0:0.0877	6.521	0.21474	477	0.77662	GPCR, family 2-like;GPCR, family 2-like;.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2923.43	34	chr6	47682327	.	C	T	2923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.01;DP=634;ExcessHet=0;FS=2.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.793;SOR=0.669	GT:AD:DP:GQ:PL	0/1:140,115:255:99:2935,0,3296	9	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	568.29	157	chr6	52403967	.	A	G	568.29	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.479;DP=1388;ExcessHet=0.7463;FS=107.752;InbreedingCoeff=-0.2121;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.31;SOR=8.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:185,48:233:99:.:.:456,0,4233:.	6	0	3	1
chr6	55174637	55174637	C	T	exonic	HCRTR2	.	nonsynonymous SNV	HCRTR2:NM_001384272:exon1:c.C50T:p.S17F,HCRTR2:NM_001526:exon2:c.C50T:p.S17F	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0327432953336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.022	0.57587	D	0.08	0.24543	B	0.037	0.23121	B	0.014373	0.28553	N	0.310637	0.983961	0.40082	D	1.7	0.43825	L	0.1	0.61326	T	-0.94	0.25118	N	0.259	0.33030	-1.0464	0.15418	T	0.075	0.30179	T	10	0.1408917	0.26775	T	0.032743	0.54489	D	0.166	0.42578	0.345	0.33950	0.808165282019	0.80636	0.662325779544522	0.66169	0.444127125494	0.44328	0.416307598352	0.27329	T	0.101766	0.40885	T	-0.0069767	0.50687	T	-0.247798	0.50034	T	0.372771948575974	0.27904	T	0.808919	0.45897	T	0.16509031	0.36759	0.25509435	0.51186	0.16509031	0.36759	0.25509435	0.51185	-4.353	0.28914	T	.	.	0.083	0.10931	B	.;.	.;.	3.223650	0.43936	21.8	0.97999442855915619	0.37468	0.79437	0.39362	D	AEFBI	0.142648	0.26514	N	-0.219550324462064	0.32331	1.822266	-0.0997468611039154	0.35401	2.047698	0.898596159962312	0.26030	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.99	4.1	0.47196	1.639000	0.36791	3.400000	0.38123	0.599000	0.40250	0.080000	0.22340	0.998000	0.33993	0.997000	0.79791	0.0:0.6208:0.2984:0.0808	8.380	0.31627	807	0.43470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2407.43	37	chr6	55174637	.	C	T	2407.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.11;DP=544;ExcessHet=0;FS=7.44;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.243;SOR=0.924	GT:AD:DP:GQ:PL	0/1:123,102:225:99:2419,0,3101	9	0	1	0
chr6	55874486	55874486	A	T	exonic	BMP5	.	nonsynonymous SNV	BMP5:NM_001329754:exon1:c.T380A:p.I127K,BMP5:NM_001329756:exon1:c.T380A:p.I127K,BMP5:NM_021073:exon1:c.T380A:p.I127K	.	424	1049	48	1	0	50	0.0232775	.	.	.	3217204	BMP5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.213	.	0.0044	0.00658946	0.0060	0.0012	0.0044	0	0.0017	0.0064	0.0111	0.0130	0.0057114	883	154602	rs148766592	0.0061	0.0061	0.0058	0.0064	0.0134	0.0060	0.0060	0.0128	0.0125	0.0008	0.0033	0.0007	5.04e-05	0.0016	0.0111	0.0064	0.0052	0.0134	0.0043	0.0043	0.0045	0.0041	0.0125	0.0041	0.0039	0.0099	0.0090	0.0011	0	0.0022	0.0006	0.0002	0.0011	0.0102	0.0072	0.0047	0.0125	0.312	0.13925	T	0.279	0.21745	T	0.0	0.02946	B	0.001	0.04355	B	0.016900	0.27861	N	0.409080	0.999942	0.19238	N	0	0.06538	N	-0.55	0.71068	T	-0.32	0.12283	N	0.306	0.34552	-1.0321	0.19777	T	0.078	0.31103	T	10	0.005883813	0.00132	T	.	.	.	0.213	0.50496	.	.	0.673091222706	0.67032	0.38443853275356543	0.38358	0.364414730211	0.38057	0.486332833767	0.36930	T	0.27718	0.64979	T	-0.372903	0.03450	T	-0.297394	0.44999	T	0.0186218125012243	0.00576	T	0.737926	0.35508	T	0.12036941	0.28325	0.18262362	0.41201	0.12036941	0.28325	0.18262362	0.41200	-2.995	0.10127	T	.	.	0.142	0.31203	B	.	.	2.070988	0.26338	17.08	0.86946015747244509	0.16882	0.80071	0.39809	D	AEFGBI	0.406686	0.47907	N	-0.282567121738962	0.29822	1.657207	-0.0970046483997416	0.35514	2.055537	0.999992548734019	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.61	0.40494	5.786000	0.68654	8.107000	0.76578	0.756000	0.94297	1.000000	0.71638	0.982000	0.30508	0.830000	0.39126	0.8006:0.0:0.1994:0.0	8.575	0.32753	824	0.40336	TGF-beta, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.000000	0.005435	0.011696	0.050000	0.017241	0.009146	0.022727	0.1	3349.14	33	chr6	55874486	.	A	T	3349.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.83;DP=531;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.453;SOR=0.72	GT:AD:DP:GQ:PL	0/1:82,61:143:99:1666,0,2057	8	0	2	0
chr6	57196502	57196502	T	C	exonic	RAB23	.	nonsynonymous SNV	RAB23:NM_001278666:exon4:c.A346G:p.T116A,RAB23:NM_001278667:exon4:c.A346G:p.T116A,RAB23:NM_001278668:exon4:c.A346G:p.T116A,RAB23:NM_016277:exon4:c.A346G:p.T116A,RAB23:NM_183227:exon4:c.A346G:p.T116A	Carpenter syndrome, Autosomal recessive	3	1512	6	1	0	8	0.00263852	.	.	.	1037726	not_provided|RAB23-related_Carpenter_syndrome|Inborn_genetic_diseases|RAB23-related_disorder|Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0008710,MedGen:C4551510,OMIM:201000,Orphanet:65759|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0019012,MedGen:C1275078,OMIM:PS201000,Orphanet:65759	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.385	0.0365407522231	7.7e-05	.	0.0002	0	8.645e-05	0.0001	0	0.0003	0	0.0005	0.0002199	34	154602	rs138803099	0.0001	0.0001	0.0001	0.0002	0.0029	0.0001	0.0001	0.0019	0.0015	0	4.472e-05	0.0003	0.0001	0	0.0029	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	8.059e-05	0.0002	8.163e-05	6.72e-05	0.0001	7.896e-05	2.407e-05	0	6.537e-05	0.0003	0.0002	0	0.0034	0.0002	0.0005	0.0002	0.079	0.33753	T	0.439	0.13365	T	0.083	0.24734	B	0.204	0.37039	B	0.000083	0.51296	D	0.231325	0.999737	0.48635	D	0.135	0.08676	N	-1.29	0.79475	T	-1.4	0.34596	N	0.718	0.72031	-0.7576	0.57535	T	0.183	0.53087	T	10	0.42020148	0.56812	T	0.036541	0.57053	D	0.385	0.70194	.	.	0.837510036393	0.83596	0.6098316014559069	0.60915	0.253422639517	0.27911	0.516050875187	0.41070	T	0.258475	0.62963	T	-0.156006	0.27375	T	-0.165676	0.57838	T	0.0443953140770478	0.04492	T	0.766923	0.39491	T	0.062869504	0.13178	0.10184803	0.24393	0.062869504	0.13177	0.10184803	0.24392	-5.172	0.38656	T	0.184526429101712	0.23937	0.103	0.19518	B	.;.	.;.	2.638359	0.34328	19.60	0.98909995340292833	0.48345	0.97097	0.72672	D	AEFGBI	0.518364	0.54409	D	-0.187925101071928	0.33637	1.910559	-0.0216332139859695	0.38739	2.286744	0.999946303593458	0.47345	0.732398	0.92422	0	0.601575	0.49859	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.96	3.43	0.38372	4.744000	0.61813	2.805000	0.34874	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.972000	0.54974	0.2685:0.0:0.0:0.7315	10.029	0.41262	719	0.55657	Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	1020.43	34	chr6	57196502	.	T	C	1020.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.704;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.632;SOR=0.693	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1032,0,1372	9	0	1	0
chr6	72400659	72400659	G	A	exonic	RIMS1	.	nonsynonymous SNV	RIMS1:NM_001168411:exon6:c.G605A:p.R202Q,RIMS1:NM_001350419:exon19:c.G2243A:p.R748Q,RIMS1:NM_001350455:exon19:c.G2246A:p.R749Q,RIMS1:NM_001350426:exon20:c.G2318A:p.R773Q,RIMS1:NM_001350432:exon20:c.G2306A:p.R769Q,RIMS1:NM_001350440:exon20:c.G2315A:p.R772Q,RIMS1:NM_001168408:exon21:c.G2399A:p.R800Q,RIMS1:NM_001350427:exon21:c.G2396A:p.R799Q,RIMS1:NM_001350449:exon21:c.G2378A:p.R793Q,RIMS1:NM_001350465:exon21:c.G2156A:p.R719Q,RIMS1:NM_001350472:exon21:c.G2351A:p.R784Q,RIMS1:NM_001350473:exon21:c.G2354A:p.R785Q,RIMS1:NM_001168409:exon22:c.G2228A:p.R743Q,RIMS1:NM_001168410:exon22:c.G2426A:p.R809Q,RIMS1:NM_001350417:exon22:c.G2471A:p.R824Q,RIMS1:NM_001350422:exon22:c.G2468A:p.R823Q,RIMS1:NM_001350423:exon22:c.G2732A:p.R911Q,RIMS1:NM_001350424:exon22:c.G2330A:p.R777Q,RIMS1:NM_001350429:exon22:c.G2762A:p.R921Q,RIMS1:NM_001350444:exon22:c.G2759A:p.R920Q,RIMS1:NM_001350450:exon22:c.G2327A:p.R776Q,RIMS1:NM_001350468:exon22:c.G2516A:p.R839Q,RIMS1:NM_001350470:exon22:c.G2432A:p.R811Q,RIMS1:NM_001350474:exon22:c.G2717A:p.R906Q,RIMS1:NM_001350428:exon23:c.G2402A:p.R801Q,RIMS1:NM_001350430:exon23:c.G2399A:p.R800Q,RIMS1:NM_001350434:exon23:c.G2546A:p.R849Q,RIMS1:NM_001350438:exon23:c.G2651A:p.R884Q,RIMS1:NM_001350442:exon23:c.G2654A:p.R885Q,RIMS1:NM_001350445:exon23:c.G2552A:p.R851Q,RIMS1:NM_001350447:exon23:c.G2831A:p.R944Q,RIMS1:NM_001350467:exon23:c.G2591A:p.R864Q,RIMS1:NM_001350435:exon24:c.G2933A:p.R978Q,RIMS1:NM_001350439:exon24:c.G2915A:p.R972Q,RIMS1:NM_001350441:exon24:c.G2912A:p.R971Q,RIMS1:NM_001350443:exon24:c.G2885A:p.R962Q,RIMS1:NM_001350454:exon24:c.G2894A:p.R965Q,RIMS1:NM_001350457:exon24:c.G2924A:p.R975Q,RIMS1:NM_001350460:exon24:c.G2864A:p.R955Q,RIMS1:NM_001350463:exon24:c.G2669A:p.R890Q,RIMS1:NM_001350464:exon24:c.G2672A:p.R891Q,RIMS1:NM_001168407:exon25:c.G2984A:p.R995Q,RIMS1:NM_001350414:exon25:c.G2945A:p.R982Q,RIMS1:NM_001350418:exon25:c.G2963A:p.R988Q,RIMS1:NM_001350420:exon25:c.G3098A:p.R1033Q,RIMS1:NM_001350421:exon25:c.G2843A:p.R948Q,RIMS1:NM_001350425:exon25:c.G2942A:p.R981Q,RIMS1:NM_001350431:exon25:c.G3080A:p.R1027Q,RIMS1:NM_001350448:exon25:c.G2987A:p.R996Q,RIMS1:NM_001350458:exon25:c.G2993A:p.R998Q,RIMS1:NM_001350459:exon25:c.G2846A:p.R949Q,RIMS1:NM_001350461:exon25:c.G2714A:p.R905Q,RIMS1:NM_001350466:exon25:c.G2675A:p.R892Q,RIMS1:NM_001350469:exon25:c.G2744A:p.R915Q,RIMS1:NM_001350471:exon25:c.G2825A:p.R942Q,RIMS1:NM_001350415:exon26:c.G3041A:p.R1014Q,RIMS1:NM_001350416:exon26:c.G2990A:p.R997Q,RIMS1:NM_001350433:exon26:c.G3071A:p.R1024Q,RIMS1:NM_001350437:exon26:c.G2927A:p.R976Q,RIMS1:NM_001350446:exon26:c.G3170A:p.R1057Q,RIMS1:NM_001350456:exon26:c.G3167A:p.R1056Q,RIMS1:NM_001350462:exon26:c.G3029A:p.R1010Q,RIMS1:NM_001350436:exon27:c.G3176A:p.R1059Q,RIMS1:NM_014989:exon34:c.G5024A:p.R1675Q	Cone-rod dystrophy 7	.	.	.	.	.	.	.	.	.	.	1044345	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.293	0.029653449586	.	.	1.658e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs767732863	2.737e-06	2.736e-06	4.084e-06	1.375e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.50132	D	0.075	0.42794	T	0.998	0.73220	D	0.945	0.68163	D	0.000035	0.55875	D	0.000000	0.999673	0.81001	D	1.5	0.37844	L	2.44	0.21865	T	-3.2	0.71397	D	0.759	0.75742	-1.0579	0.12286	T	0.095	0.35818	T	10	0.668852	0.70590	D	0.029653	0.52125	D	0.429	0.73590	0.387	0.40788	0.713529394019	0.71102	0.4411909763478903	0.44036	1.37082442145	0.84528	0.710346221924	0.68644	T	0.570511	0.85771	D	0.108649	0.65210	D	0.0874183	0.76072	D	0.953358948230743	0.64006	D	0.943306	0.78595	D	0.41397807	0.61688	0.25007257	0.50591	0.41397807	0.61689	0.25007257	0.50590	-10.013	0.73990	D	.	.	0.151	0.67230	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	5.171977	0.86691	29.0	0.9994645763845027	0.99901	0.98201	0.80484	D	AEFI	0.942648	0.94749	D	0.708820442382276	0.80211	7.24428	0.724038456609149	0.84202	8.22733	0.999999964729196	0.74766	0.638212	0.43195	0	0.627178	0.54094	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	8.144000	0.89542	11.880000	0.98808	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.129	0.93383	883	0.28872	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1595.43	34	chr6	72400659	.	G	A	1595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=452;ExcessHet=0;FS=1.461;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.552;SOR=0.532	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1607,0,1613	9	0	1	0
chr6	80039742	80039742	A	G	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon19:c.A2174G:p.Y725C,TTK:NM_003318:exon19:c.A2177G:p.Y726C	.	.	.	.	.	.	.	.	.	.	.	3347674	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0155001435632	0.0002	0.000399361	8.299e-05	0.0007	0	0	0	3.014e-05	0	6.066e-05	7.76e-05	12	154602	rs150451663	4.45e-05	4.446e-05	4.422e-05	4.478e-05	0.0008	3.566e-05	3.245e-05	0.0005	0.0005	0.0008	4.833e-05	0	2.613e-05	0	0.0005	4.538e-06	0.0002	0.0002	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	6.557e-05	0	0	0	0	0	0	0.0002	0.243	0.18061	T	0.421	0.14116	T	0.006	0.13644	B	0.014	0.16862	B	0.000000	0.84330	D	0.090273	0.978469	0.39464	D	0.56	0.15190	N	-0.81	0.73949	T	-0.22	0.10480	N	0.331	0.37197	-0.9872	0.33298	T	0.107	0.38931	T	10	0.090622365	0.15802	T	0.015	0.36266	T	0.148	0.39182	.	.	0.642777527255	0.63982	0.5088495421668111	0.50806	0.176995539905	0.19917	0.602975189686	0.53324	T	0.067095	0.33114	T	-0.307389	0.07979	T	-0.325286	0.41992	T	0.0354164342193754	0.02879	T	0.946905	0.79945	D	0.2452561	0.47482	0.14645247	0.34695	0.2452561	0.47482	0.14645247	0.34694	-3.518	0.20610	T	.	.	0.060	0.00876	B	.;.;.	.;.;.	2.788908	0.36656	20.3	0.87177441898149788	0.17042	0.72517	0.35492	D	AEFBI	0.137093	0.25797	N	-0.308383669149755	0.28828	1.593418	-0.166883809567477	0.32763	1.86726	0.530136864034174	0.21168	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.75	3.41	0.38145	5.211000	0.65052	9.186000	0.79105	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.5935:0.0:0.4065:0.0	4.610	0.11788	840	0.37365	.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1233.43	33	chr6	80039742	.	A	G	1233.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.584;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.63;SOR=0.732	GT:AD:DP:GQ:PL	0/1:42,53:95:99:1245,0,907	9	0	1	0
chr6	82217974	82217974	C	T	exonic	IBTK	.	nonsynonymous SNV	IBTK:NM_001300906:exon10:c.G1412A:p.S471N,IBTK:NM_015525:exon10:c.G1412A:p.S471N	.	445	1070	7	0	0	7	0.00326036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0114311428952	0.0006	0.000599042	0.0005	0	0.0002	0	0	0.0007	0.0012	0.0005	0.0003946	61	154602	rs147304035	0.0006	0.0006	0.0005	0.0006	0.0046	0.0005	0.0005	0.0032	0.0028	0.0002	0.0006	0	0	1.893e-05	0.0046	0.0006	0.0010	0.0004	0.0006	0.0006	0.0005	0.0007	0.0011	0.0005	0.0004	0.0007	0.0006	0.0002	0	0.0011	0	0	0	0.0102	0.0007	0.0033	0.0006	0.676	0.05973	T	0.509	0.12107	T	0.0	0.02946	B	0.0	0.01387	B	0.055572	0.22632	N	0.534882	0.99947	0.21151	N	-0.805	0.01590	N	2.0	0.27331	T	-0.48	0.15379	N	0.112	0.18239	-0.9157	0.46129	T	0.006	0.01981	T	10	0.004614651	0.00096	T	0.011431	0.29047	T	0.043	0.11576	.	.	0.179529687257	0.17594	0.16220586137641543	0.16140	0.146048444311	0.16491	0.30689406395	0.11438	T	0.070371	0.33944	T	-0.641147	0.00082	T	-0.766545	0.02883	T	0.00448100680315643	0.00048	T	.	.	.	0.02049657	0.00610	0.035944056	0.02942	0.02049657	0.00610	0.035944056	0.02941	-4.174	0.26374	T	.	.	0.057	0.00730	B	.;.;.;.	.;.;.;.	0.834435	0.12059	8.614	0.46871761016382413	0.03788	0.07627	0.13635	N	AEFBHI	0.042010	0.06462	N	-1.2148429126736	0.04783	0.2166513	-1.04707363547837	0.08767	0.4327178	0.424375478619112	0.20317	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.53	-0.781	0.10412	-0.924000	0.04104	0.006000	0.13366	-0.187000	0.09635	0.000000	0.06391	0.867000	0.27550	0.991000	0.66497	0.1414:0.1688:0.0:0.6898	7.045	0.24221	867	0.32089	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1542.43	37	chr6	82217974	.	C	T	1542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.943;DP=413;ExcessHet=0;FS=2.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-1.654;SOR=0.465	GT:AD:DP:GQ:PL	0/1:40,64:104:99:1554,0,916	9	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	619.04	57	chr6	87418396	.	G	C	619.04	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.755;DP=604;ExcessHet=1.5895;FS=224.048;InbreedingCoeff=-0.2907;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.865;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,25:65:96:.:.:96,0,403:.	5	0	4	1
chr6	110456862	110456862	C	T	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon2:c.G209A:p.S70N	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00876804708803	0.0005	0.000798722	0.0009	9.617e-05	0.0004	0	0	0.0006	0.0044	0.0037	0.0007956	123	154602	rs145653089	0.0006	0.0006	0.0005	0.0007	0.0069	0.0006	0.0005	0.0052	0.0046	8.961e-05	0.0001	0	0	0	0.0069	0.0004	0.0008	0.0038	0.0005	0.0005	0.0003	0.0006	0.0035	0.0004	0.0003	0.0022	0.0018	2.406e-05	0	0.0002	0	0	0	0.0034	0.0007	0.0009	0.0035	0.072	0.39575	T	0.077	0.42436	T	0.454	0.36182	P	0.071	0.27960	B	0.001541	0.00798	N	5.930950	1	0.08975	N	0.605	0.15622	N	1.17	0.65192	T	-0.17	0.10833	N	0.078	0.05287	-1.0711	0.09173	T	0.062	0.25923	T	10	0.006997794	0.00159	T	0.008768	0.23147	T	0.044	0.11924	.	.	0.115124310173	0.11017	0.4664323185467218	0.46562	0.015149267968	0.01440	0.209350436926	0.00784	T	0.018852	0.15125	T	-0.607257	0.00132	T	-0.647481	0.09132	T	0.0200073487743766	0.00701	T	0.327067	0.07184	T	0.047845952	0.08244	0.06910523	0.14518	0.047845952	0.08244	0.06910523	0.14517	-6.36	0.49196	T	.	.	0.083	0.09191	B	.;.;.	.;.;.	-0.136266	0.03432	0.628	0.90622664412279952	0.19876	0.09044	0.14877	N	AEFDGBIJ	0.101387	0.20365	N	-0.968869463499155	0.09273	0.4382266	-1.1222374894137	0.07277	0.3533342	0.979797763919298	0.30066	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	-5.05	0.02733	-0.041000	0.12036	-1.420000	0.05482	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2061:0.3793:0.0:0.4146	5.523	0.16230	493	0.76500	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.007576	0.1	4238.14	137	chr6	110456862	.	C	T	4238.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.61;DP=965;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.095;SOR=0.707	GT:AD:DP:GQ:PL	0/1:79,84:163:99:2179,0,2027	8	0	2	0
chr6	112117868	112117868	G	A	exonic	LAMA4	.	nonsynonymous SNV	LAMA4:NM_001105206:exon35:c.C4852T:p.L1618F,LAMA4:NM_001105207:exon35:c.C4831T:p.L1611F,LAMA4:NM_002290:exon35:c.C4831T:p.L1611F	Cardiomyopathy, dilated, 1JJ, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	53565	Cardiomyopathy|not_provided|Cardiovascular_phenotype|Dilated_cardiomyopathy_1JJ|not_specified|LAMA4-related_disorder	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0014095,MedGen:C3808935,OMIM:615235,Orphanet:154|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.366	0.0183851972643	.	.	0.0004	0	8.717e-05	0	0	9.232e-05	0	0.0024	1.29e-05	2	154602	rs397516733	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.99e-05	0.0001	0	2.52e-05	3.76e-05	0.0010	0.0001	0.0002	0.0027	0.0003	0.0003	0.0002	0.0004	0.0025	0.0002	0.0002	0.0014	0.0011	2.406e-05	0	0.0010	0	0	0	0	0.0002	0.0009	0.0025	0.009	0.57480	D	0.013	0.63109	D	.	.	.	.	.	.	0.000013	0.62929	D	0.067780	0.997972	0.44375	D	.	.	.	1.81	0.25182	T	-3.03	0.62747	D	0.692	0.70878	-0.7620	0.57296	T	0.172	0.51437	T	10	0.12829733	0.24405	T	0.018385	0.40438	T	0.366	0.68582	.	.	0.366277470483	0.36239	0.543173225870056	0.54243	0.594377940078	0.54754	0.558607041836	0.47071	T	0.118871	0.43999	T	-0.0944471	0.37342	T	0.0860089	0.75979	D	0.244352835201633	0.22618	T	0.912309	0.68816	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.63618	A	.;.;.;.	.;.;.;.	4.862109	0.79572	27.1	0.99888721587977247	0.96359	0.73617	0.36009	D	AEFDGBHCI	0.506313	0.53709	D	0.697377018552583	0.79459	7.082341	0.620098135179645	0.76401	6.484184	0.999999999988565	0.74766	0.645754	0.44609	0	0.59043	0.45803	0	0.547309	0.15389	0	0.723	0.93126	0	.	.	5.6	5.6	0.84997	3.257000	0.51201	11.892000	0.99120	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.0:0.0:1.0:0.0	19.609	0.95588	730	0.54327	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	900.43	37	chr6	112117868	.	G	A	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.7;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.34;SOR=0.723	GT:AD:DP:GQ:PL	0/1:52,42:94:99:912,0,1295	9	0	1	0
chr6	118975984	118975984	T	C	exonic	FAM184A	.	nonsynonymous SNV	FAM184A:NM_001100411:exon12:c.A2156G:p.N719S,FAM184A:NM_001288576:exon12:c.A2156G:p.N719S,FAM184A:NM_024581:exon12:c.A2516G:p.N839S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00278515324792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.318	0.19246	T	0.003	0.11197	B	0.013	0.16460	B	0.043193	0.23764	N	0.474960	0.927997	0.27131	N	1.95	0.52479	M	2.52	0.21666	T	-0.23	0.12283	N	0.05	0.04913	-0.9420	0.42298	T	0.014	0.05705	T	10	0.02553171	0.00744	T	0.002785	0.05781	T	0.051	0.14325	0.135	0.03920	0.0482279557977	0.04254	0.05908708837999286	0.05848	0.114882793964	0.12965	0.255550801754	0.04375	T	0.004406	0.06247	T	-0.353972	0.04483	T	-0.746233	0.03635	T	0.0854333937168121	0.10667	T	0.854015	0.59977	D	0.031558435	0.03017	0.037560426	0.03434	0.031558435	0.03017	0.037560426	0.03434	-2.053	0.03388	T	.	.	0.052	0.00280	B	.;.;.;.;.;.	.;.;.;.;.;.	0.438904	0.08091	4.818	0.67561984020219845	0.08392	0.46201	0.27707	N	AEFI	0.133063	0.25259	N	-0.963977134281525	0.09381	0.4437643	-0.913070484706453	0.11784	0.6025158	2.59677408594814E-4	0.06190	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.21	-2.89	0.05326	-0.004000	0.12813	-0.255000	0.10474	-0.311000	0.06080	0.697000	0.28597	0.211000	0.23643	0.991000	0.66497	0.0:0.4317:0.0:0.5683	10.866	0.46063	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	60.49	34	chr6	118975984	.	T	C	60.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.368;DP=483;ExcessHet=0;FS=196.622;InbreedingCoeff=-0.058;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.62;SOR=8.581	GT:AD:DP:GQ:PL	0/1:34,16:50:72:72,0,419	9	0	1	0
chr6	127855173	127855173	A	G	exonic	THEMIS	.	startloss	THEMIS:NM_001010923:exon2:c.T107C:p.M36T,THEMIS:NM_001164685:exon2:c.T107C:p.M36T,THEMIS:NM_001164687:exon2:c.T2C:p.M1?	.	488	1006	21	7	0	35	0.0170982	.	.	.	699293	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.132	.	0.0016	0.00399361	0.0041	0.0004	0.0018	0	0.0008	0.0027	0.0096	0.0174	0.0032923	509	154602	rs148069630	0.0023	0.0023	0.0019	0.0027	0.0158	0.0022	0.0022	0.0151	0.0148	0.0002	0.0015	0.0094	0	0.0012	0.0129	0.0012	0.0036	0.0158	0.0019	0.0019	0.0017	0.0021	0.0174	0.0017	0.0017	0.0144	0.0133	0.0002	0	0.0026	0.0101	0	0.0017	0.0068	0.0015	0.0033	0.0174	0.011	0.68238	D	0.031	0.65728	D	0.023	0.18885	B	0.012	0.16012	B	0.000036	0.55875	N	0.162448	1	0.81001	D	2.64	0.77224	M	2.56	0.19990	T	-2.47	0.53898	N	0.675	0.69387	-1.0863	0.06173	T	0.029	0.12585	T	10	0.009416193	0.00265	T	.	.	.	0.132	0.35948	.	.	0.233785782151	0.22967	0.6429756445759902	0.64232	.	.	0.614683508873	0.54977	T	0.25652	0.62744	T	-0.358524	0.04214	T	-0.275447	0.47268	T	0.14001697254414	0.16277	T	0.723528	0.65058	T	0.56582403	0.70831	0.62475485	0.78129	0.56582403	0.70832	0.62475485	0.78130	-7.603	0.58332	D	.	.	0.277	0.56812	B	.;.;.;.	.;.;.;.	3.743792	0.53625	23.4	0.98635923872524434	0.43974	0.85049	0.44151	D	AEFBI	0.393451	0.47109	N	0.142214506295157	0.48444	3.056582	0.225491351012938	0.51267	3.310643	0.00133736998524389	0.08454	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.73	4.57	0.55860	3.116000	0.50092	7.963000	0.76010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6842:0.1259:0.0688:0.1211	4.437	0.10978	735	0.53711	CABIT domain;CABIT domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012614	0.005102	0.008152	0.011765	0.000000	0.008621	0.012195	0.037879	0.05	1073.43	34	chr6	127855173	.	A	G	1073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.275;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=2.63;SOR=0.66	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1085,0,1189	9	0	1	0
chr6	147509202	147509202	A	C	exonic	SAMD5	.	nonsynonymous SNV	SAMD5:NM_001030060:exon1:c.A274C:p.T92P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.0163738	0.0017	0	0	0	0	0	0	0.0022	0.0005951	92	154602	rs535026861	0.0001	0.0001	7.94e-05	0.0001	0.0032	8.755e-05	8.185e-05	0.0027	0.0025	0	0	0	0	0	0.0006	3.137e-06	0.0003	0.0032	0.0001	9.909e-05	6.53e-05	0.0001	0.0033	6.108e-05	4.96e-05	0.0020	0.0016	0	0	0	0	0	0	0	0	0	0.0033	0.343	0.12592	T	0.319	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.123076	0.18932	N	0.468223	1	0.08975	N	0.145	0.08828	N	-0.12	0.64630	T	-0.63	0.18459	N	0.096	0.07673	-1.0076	0.27665	T	0.038	0.16290	T	10	0.0034871101	0.00062	T	.	.	.	0.032	0.07718	.	.	0.0666544352282	0.05500	0.5606711704743073	0.55994	0.75651630784	0.64033	0.835801005363	0.87453	D	0.002603	0.01994	T	-0.582137	0.00187	T	-0.61624	0.11483	T	0.0316566250643616	0.02250	T	0.270873	0.04565	T	0.11939647	0.28113	0.09556921	0.22673	0.11939647	0.28113	0.09556921	0.22672	-1.879	0.02755	T	.	.	0.040	0.00013	B	.	.	0.600874	0.09695	6.463	0.41392559403971729	0.02983	0.04287	0.09829	N	AEFDBHCI	0.128901	0.24686	N	-1.14140379182348	0.05922	0.2712988	-1.14479769735937	0.06862	0.3317542	0.999999529600154	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.621717	0.48901	0	.	.	3.93	0.394	0.15522	-0.596000	0.05816	0.099000	0.14623	0.552000	0.28158	0.000000	0.06391	0.067000	0.22148	0.019000	0.11356	0.267:0.4815:0.2515:0.0	5.415	0.15671	676	0.60355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004768	0.000000	0.000000	0.017857	0.000000	0.000000	0.007874	0.000000	0.05	316.43	35	chr6	147509202	.	A	C	316.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.408;DP=294;ExcessHet=0;FS=2.929;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=0.106;SOR=0.573	GT:AD:DP:GQ:PL	0/1:30,13:43:99:328,0,932	9	0	1	0
chr6	156778848	156778850	GGC	-	exonic	ARID1B	.	nonframeshift deletion	ARID1B:NM_001374820:exon1:c.1168_1170del:p.G402del,ARID1B:NM_001374828:exon1:c.1168_1170del:p.G402del,ARID1B:NM_017519:exon1:c.1168_1170del:p.G402del,ARID1B:NM_001371656:exon2:c.1168_1170del:p.G402del	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579302	not_provided|ARID1B-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0647	.	0.0053	0.0094	0	0.0074	.	0.0050	0	0.0054	0.0005886	91	154602	rs752981400	0.0011	0.0062	0.0010	0.0011	0.0042	0.0010	0.0010	0.0035	0.0033	0.0010	0.0042	0.0019	0.0005	0.0015	0.0022	0.0008	0.0014	0.0039	0.0004	0.0005	0.0004	0.0004	0.0013	0.0003	0.0003	0.0008	0.0007	0.0004	0	0.0013	0	0	0	0	0.0004	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	45.39	37	chr6	156778847	.	GGGC	G	45.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.771;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.75;ReadPosRankSum=0.403;SOR=1.071	GT:AD:DP:GQ:PL	0/1:23,3:26:57:57,0,949	9	0	1	0
chr6	158192041	158192041	A	G	exonic	GTF2H5	.	nonsynonymous SNV	GTF2H5:NM_207118:exon3:c.A100G:p.I34V	Trichothiodystrophy 3, photosensitive	0	1518	4	0	0	4	0.00131579	.	.	.	1364851	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.360	0.0092175309781	.	.	7.416e-05	0	0	0	0	4.498e-05	0	0.0004	6.47e-05	10	154602	rs748906092	6.979e-05	6.977e-05	6.536e-05	7.427e-05	0.0003	5.848e-05	5.458e-05	0.0002	0.0001	2.988e-05	2.236e-05	0	0	0	0.0003	6.477e-05	9.936e-05	0.0002	3.284e-05	3.283e-05	2.569e-05	4.033e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.981e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0006	.	.	.	0.465	0.12421	T	0.045	0.21781	B	0.027	0.21085	B	0.000000	0.84330	N	0.050264	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.31814	-0.6605	0.62254	T	0.295	0.66659	T	9	0.124952555	0.23738	T	0.009218	0.24225	T	.	.	.	.	0.195762928549	0.19159	0.5570683235828442	0.55633	0.0260321816419	0.02658	0.745974719524	0.73853	T	0.161456	0.50572	T	-0.270154	0.11740	T	-0.351534	0.39030	T	0.196821630001068	0.20239	T	0.824218	0.48580	T	0.528503	0.68746	0.41037402	0.65299	0.497	0.66949	0.440663	0.67377	-3.143	0.11797	T	0.1361750797366211	0.14869	0.085	0.10159	B	.	.	2.796114	0.36766	20.3	0.68541410136514858	0.08690	0.96442	0.69160	D	AEFDBI	0.898633	0.84214	D	-0.3080205435612	0.28843	1.594302	-0.164391350954765	0.32858	1.873617	0.922437865926696	0.26708	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.06	4.9	0.63643	7.392000	0.79116	11.177000	0.88172	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.9292:0.0:0.0708:0.0	10.860	0.46030	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1106.43	34	chr6	158192041	.	A	G	1106.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.824;DP=418;ExcessHet=0;FS=1.557;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1;SOR=0.547	GT:AD:DP:GQ:PL	0/1:57,48:105:99:1118,0,1426	9	0	1	0
chr6	160731787	160731787	C	T	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon12:c.C1481T:p.A494V	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	679945	Otitis_media,_susceptibility_to|not_provided	MONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.281	.	0.0085	0.00898562	0.0082	0.0153	0.0310	0.0007	0	0.0067	0.0154	0.0002	0.007943	1228	154602	rs4252128	0.0048	0.0048	0.0049	0.0047	0.0294	0.0047	0.0046	0.0281	0.0275	0.0161	0.0294	0.0588	0.0013	3.744e-05	0.0274	0.0024	0.0121	0.0004	0.0097	0.0097	0.0099	0.0095	0.0189	0.0093	0.0091	0.0171	0.0164	0.0165	0	0.0189	0.0606	0.0015	0	0.0442	0.0035	0.0147	0.0012	0.014	0.53172	D	0.301	0.20293	T	0.992	0.64738	D	0.928	0.66279	D	0.051001	0.23021	U	0.204869	0.871976	0.28192	N	2.835	0.82492	M	-0.05	0.63403	T	-2.38	0.52451	N	0.319	0.35938	-0.5027	0.68553	T	0.354	0.71735	T	10	0.006421864	0.00145	T	.	.	.	0.281	0.59861	.	.	0.879256654498	0.87807	0.9470999344416133	0.94692	0.764815853878	0.64440	0.386979937553	0.23243	T	0.170333	0.51804	T	-0.462974	0.00942	T	-0.415494	0.31594	T	0.0510961458304338	0.05691	T	0.865613	0.56501	D	0.40057975	0.60773	0.28265077	0.54254	0.40057975	0.60773	0.28265077	0.54253	-9.693	0.72053	D	0.09881414717756476	0.07107	0.330	0.55194	B	.	.	3.859389	0.55956	23.7	0.99877461595648165	0.95410	0.77636	0.38195	D	AEFBI	0.941528	0.94492	D	0.442024568810016	0.63752	4.615072	0.261246359392058	0.53291	3.498781	0.999588408453391	0.40607	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	5.708000	0.68030	4.639000	0.44147	0.449000	0.21268	0.995000	0.38783	1.000000	0.68203	0.002000	0.04165	0.0:1.0:0.0:0.0	12.491	0.55240	856	0.34373	Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	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	0.045821	0.111111	0.051630	0.020468	0.000000	0.025862	0.027439	0.018939	0.05	1730.43	35	chr6	160731787	.	C	T	1730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.653;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.6;SOR=0.737	GT:AD:DP:GQ:PL	0/1:54,68:122:99:1742,0,1287	9	0	1	0
chr6	168079054	168079054	C	T	exonic	FRMD1	.	nonsynonymous SNV	FRMD1:NM_024919:exon1:c.G41A:p.R14Q	.	427	1093	2	0	0	2	0.000914077	.	.	.	3442979	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0119910227561	0.0003	0.000399361	0.0007	0.0002	0	0.0001	0.0005	0.0012	0.0011	6.18e-05	0.0006274	97	154602	rs148792644	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	0.0002	0	0	2.519e-05	0.0006	0.0003	0.0007	0.0003	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0	6.535e-05	0	0	0.0004	0	0.0005	0	0	0.522	0.07211	T	0.585	0.08361	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.79	0.83815	D	-0.08	0.08187	N	0.059	0.03069	-1.0314	0.20002	T	0.092	0.35201	T	9	0.008757412	0.00198	T	0.011991	0.30154	T	0.086	0.25016	.	.	0.39724302092	0.39341	0.10664658152109503	0.10594	0.115442601437	0.13019	0.370117366314	0.20849	T	7.48E-4	0.00347	T	-0.504987	0.00536	T	-0.557347	0.16626	T	0.00747774894780189	0.00086	T	0.446155	0.12501	T	0.018854469	0.00409	0.027740719	0.00950	0.018854469	0.00409	0.027740719	0.00950	-4.207	0.26853	T	.	.	0.066	0.02228	B	.	.	-0.972760	0.00811	0.027	0.80540404813554956	0.13251	0.00196	0.01131	N	AEFDBI	0.038899	0.05572	N	-1.94097397550182	0.00282	0.01211215	-2.01278895372859	0.00288	0.01270641	0.999132908356882	0.38535	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.57	-3.14	0.04928	-3.410000	0.00534	-0.341000	0.09816	-1.978000	0.00464	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1739:0.379:0.0:0.447	3.744	0.08066	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1724.43	39	chr6	168079054	.	C	T	1724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.69;DP=766;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.321;SOR=0.776	GT:AD:DP:GQ:PL	0/1:71,72:143:99:1736,0,1604	9	0	1	0
chr6	168308729	168308729	C	T	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.G518A:p.R173Q,DACT2:NM_214462:exon4:c.G1028A:p.R343Q	.	262	1258	2	0	0	2	0.000794281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00527030613905	.	0.000199681	0.0005	0	0	0	0	0	0	0.0014	7.76e-05	12	154602	rs565295919	0.0002	0.0001	9.032e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	3.166e-05	0	3.974e-05	0	0	0	6.025e-05	0.0001	0.0017	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.992e-05	2.405e-05	0	6.531e-05	0	0	0	0	0	0	0.0006	0.477	0.08310	T	0.531	0.13365	T	0.274	0.31856	B	0.024	0.20255	B	0.125297	0.02761	N	2.595170	1	0.08975	N	0	0.06538	N	0.99	0.41750	T	-0.39	0.13611	N	0.022	0.00407	-1.1209	0.02276	T	0.014	0.05753	T	10	0.007455975	0.00169	T	0.00527	0.13464	T	0.014	0.01968	.	.	0.0138822411134	0.00435	0.10793376011238046	0.10722	.	.	0.337544083595	0.16070	T	0.063124	0.32096	T	-0.687504	0.00043	T	-0.795707	0.02012	T	0.00423988368932309	0.00045	T	0.482252	0.14601	T	0.02376384	0.01144	0.026459133	0.00736	0.02376384	0.01144	0.026459133	0.00736	-3.309	0.13853	T	.	.	0.078	0.09094	B	.;.	.;.	-0.377538	0.02298	0.242	0.82108587129531752	0.14023	0.01150	0.04159	N	AEFDBI	.	.	.	-1.74855986605194	0.00684	0.02949879	-1.89256363266324	0.00506	0.02243903	0.99999996485785	0.74766	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	4.24	-8.48	0.00815	-0.564000	0.06027	-8.897000	0.00897	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2503:0.1082:0.0833:0.5582	4.098	0.09472	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1265.43	39	chr6	168308729	.	C	T	1265.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.629;DP=478;ExcessHet=0;FS=1.601;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=2.57;SOR=0.546	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1277,0,1158	9	0	1	0
chr6	169662385	169662385	C	T	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon4:c.G371A:p.G124E,WDR27:NM_001202550:exon6:c.G563A:p.G188E,WDR27:NM_001350625:exon8:c.G740A:p.G247E,WDR27:NM_001350624:exon9:c.G740A:p.G247E,WDR27:NM_182552:exon9:c.G944A:p.G315E	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0004	0.00519169	0.0024	0	0	0.0251	0.0009	0.0006	0.0045	0.0016	0.0022121	342	154602	rs117912086	0.0010	0.0010	0.0010	0.0010	0.0226	0.0010	0.0010	0.0214	0.0209	0	2.236e-05	0.0002	0.0226	0.0011	0.0002	0.0002	0.0015	0.0022	0.0013	0.0013	0.0011	0.0016	0.0268	0.0012	0.0011	0.0232	0.0218	2.405e-05	0	6.534e-05	0.0003	0.0268	0.0008	0	0.0003	0.0009	0.0052	0.613	0.12469	T	0.434	0.13557	T	0.42	0.35330	B	0.155	0.34417	B	0.653589	0.05938	N	1.191300	1	0.08975	N	.	.	.	2.06	0.21666	T	-1.3	0.35194	N	0.22	0.24634	-1.0014	0.29516	T	0.008	0.02926	T	10	0.0034893453	0.00062	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.20662551734677995	0.20578	0.0247552032624	0.02524	0.240888267756	0.02870	T	.	.	.	-0.572011	0.00215	T	-0.574158	0.15070	T	0.00569031873800063	0.00062	T	0.577542	0.20782	T	.	.	.	.	.	.	.	.	-4.014	0.24013	T	.	.	0.092	0.13690	B	.;.;.	.;.;.	0.164172	0.05541	2.002	0.25811547206820651	0.01207	0.01587	0.05162	N	AEFDBI	0.029772	0.02872	N	-1.12437280839479	0.06212	0.2853535	-1.14874803440595	0.06790	0.3280572	0.326185893783615	0.19436	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.44	1.03	0.19161	-0.104000	0.10893	-0.243000	0.10574	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.268:0.2322:0.4998	3.068	0.05845	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	865.43	34	chr6	169662385	.	C	T	865.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.459;DP=395;ExcessHet=0;FS=1.79;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.393;SOR=0.601	GT:AD:DP:GQ:PL	0/1:46,37:83:99:877,0,1205	9	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	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	641.49	22	chr7	290725	.	C	G	641.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.31;DP=256;ExcessHet=5.3821;FS=276.35;InbreedingCoeff=-0.5144;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=0.583;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,11:25:95:0|1:290724_A_G:95,0,221:290724	3	0	6	1
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	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	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.1	1624.14	35	chr7	1440649	.	C	T	1624.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.45;DP=508;ExcessHet=0.2348;FS=1.163;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=2.1;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,47:95:99:.:.:969,0,1121:.	8	0	2	0
chr7	2814361	2814361	C	T	exonic	GNA12	.	nonsynonymous SNV	GNA12:NM_001282441:exon2:c.G83A:p.R28Q	.	431	1056	34	1	0	36	0.0167598	.	.	.	2828235	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.169	.	0.0059	0.00239617	0.0064	0.0016	0.0032	0	0.0015	0.0097	0.0162	0.0030	0.0064423	996	154602	rs151253462	0.0079	0.0080	0.0080	0.0078	0.0254	0.0078	0.0078	0.0221	0.0208	0.0019	0.0042	0.0103	7.562e-05	0.0009	0.0254	0.0091	0.0083	0.0031	0.0059	0.0059	0.0061	0.0058	0.0096	0.0056	0.0055	0.0090	0.0087	0.0016	0	0.0062	0.0092	0.0002	0.0010	0.0442	0.0096	0.0090	0.0037	0.008	0.58626	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	-2.08	0.86010	D	1.22	0.01051	N	0.123	0.11483	-0.5180	0.67989	T	0.367	0.72712	T	8	0.004283428	0.00086	T	.	.	.	0.169	0.43123	.	.	0.472011534587	0.46827	.	.	.	.	.	.	.	.	.	.	-0.500656	0.00567	T	-0.47961	0.24487	T	0.00296320149154326	0.00031	T	0.350365	0.07800	T	.	.	.	.	.	.	.	.	-4.401	0.29571	T	.	.	0.104	0.18746	B	.	.	0.980151	0.13573	10.10	0.99304735825804491	0.58759	0.01677	0.05358	N	AEFDBIJ	0.025508	0.01757	N	-0.793627732173815	0.13475	0.6640948	-0.892724837559142	0.12265	0.6299404	0.999991911856854	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	2.12	2.12	0.26372	-0.109000	0.10810	-0.377000	0.09567	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:1.0:0.0:0.0	7.776	0.28201	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	712.43	35	chr7	2814361	.	C	T	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.796;DP=364;ExcessHet=0;FS=5.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.746;SOR=1.153	GT:AD:DP:GQ:PL	0/1:27,29:56:99:724,0,613	9	0	1	0
chr7	5370382	5370382	C	G	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon11:c.G4212C:p.E1404D	.	426	1044	48	4	0	56	0.0261194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0015	0.00139776	0.0071	0.0013	0.0079	0.0021	0.0011	0.0036	0.0042	0.0152	0.0017141	265	154602	rs200279443	0.0032	0.0031	0.0027	0.0037	0.0167	0.0031	0.0031	0.0159	0.0156	0.0009	0.0027	0.0041	5.614e-05	0.0013	0.0148	0.0023	0.0041	0.0167	0.0022	0.0022	0.0021	0.0022	0.0116	0.0020	0.0019	0.0092	0.0083	0.0008	0.0264	0.0022	0.0035	0.0002	0.0009	0.0034	0.0022	0.0038	0.0116	0.164	0.23360	T	0.227	0.25362	T	0.176	0.28893	B	0.07	0.27859	B	0.272151	0.15107	N	0.487974	0.929546	0.27093	N	1.12	0.28775	L	2.46	0.15028	T	-1.8	0.42384	N	0.171	0.18239	-1.0408	0.17071	T	0.038	0.16246	T	10	0.002628386	0.00040	T	.	.	.	0.044	0.11924	0.539	0.65018	0.043077524339	0.03247	0.16282630156312533	0.16202	0.0415005756908	0.04460	0.483406841755	0.36525	T	0.026167	0.19419	T	-0.671544	0.00054	T	-0.723777	0.04615	T	0.00157307252166407	0.00016	T	0.593441	0.21910	T	0.04499418	0.07289	0.060470115	0.11521	0.04499418	0.07288	0.060470115	0.11521	-7.447	0.57236	T	.	.	0.082	0.08802	B	.;.	.;.	0.390632	0.07625	4.285	0.73719689406487532	0.10430	0.52518	0.29151	D	AEFGBI	0.177542	0.30479	N	-0.56368611205654	0.20057	1.054497	-0.584215349627881	0.19904	1.070019	0.00837838376043401	0.11664	0.706548	0.73137	0	0.577304	0.33150	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.72	1.13	0.19758	0.796000	0.26646	-1.176000	0.06110	-0.322000	0.05848	0.550000	0.27346	0.000000	0.08366	0.214000	0.22296	0.0:0.3876:0.3987:0.2137	4.587	0.11683	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018994	0.005102	0.018750	0.022581	0.000000	0.010000	0.022876	0.020833	0.05	1462.43	59	chr7	5370382	.	C	G	1462.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.614;DP=586;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=1.07;QD=13.29;ReadPosRankSum=-0.21;SOR=0.696	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1474,0,1390	9	0	1	0
chr7	23781504	23781504	A	G	exonic	STK31	.	nonsynonymous SNV	STK31:NM_001260504:exon16:c.A1982G:p.H661R,STK31:NM_001260505:exon16:c.A2051G:p.H684R,STK31:NM_031414:exon16:c.A2051G:p.H684R,STK31:NM_032944:exon16:c.A1982G:p.H661R	.	449	1021	49	3	0	55	0.0262279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0045	0.0103834	0.0079	0.0009	0.0026	0.0002	0.0003	0.0066	0.0111	0.0278	0.0073996	1144	154602	rs41273999	0.0060	0.0061	0.0053	0.0067	0.0278	0.0059	0.0059	0.0269	0.0265	0.0011	0.0030	0.0096	7.602e-05	0.0010	0.0209	0.0048	0.0079	0.0278	0.0042	0.0042	0.0038	0.0045	0.0263	0.0039	0.0038	0.0226	0.0212	0.0008	0	0.0044	0.0078	0	0.0005	0.0068	0.0053	0.0047	0.0263	0.662	0.04671	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.182217	0.17072	N	0.505693	0.988811	0.24368	N	0.49	0.13296	N	-0.15	0.65192	T	-0.35	0.12847	N	0.173	0.37301	-1.0199	0.23747	T	0.070	0.28708	T	10	0.0037102103	0.00068	T	.	.	.	0.064	0.18567	.	.	0.489938136499	0.48625	0.3644048311763441	0.36354	0.0671763946976	0.07503	0.306679606438	0.11405	T	7.55E-4	0.00354	T	-0.516774	0.00459	T	-0.494814	0.22886	T	0.000411108664880323	0.00003	T	0.60444	0.23473	T	0.040007167	0.05631	0.057216644	0.10363	0.040007167	0.05631	0.057216644	0.10362	-2.327	0.04705	T	.	.	0.054	0.00478	B	.;.;.	.;.;.	1.417616	0.18337	13.68	0.17921150690072041	0.00542	0.43593	0.27132	N	AEFI	0.079134	0.15977	N	-0.806970563940849	0.13132	0.644779	-0.670014664965709	0.17712	0.9430189	1.64631360154252E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.07	-0.0622	0.13113	0.959000	0.28838	0.915000	0.22659	0.691000	0.84096	0.997000	0.40164	0.408000	0.24745	0.927000	0.46353	0.4894:0.0:0.5106:0.0	10.015	0.41180	606	0.67383	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019637	0.005051	0.006793	0.014620	0.000000	0.025862	0.030488	0.034091	0.15	2962.43	34	chr7	23781504	.	A	G	2962.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.858;DP=444;ExcessHet=0;FS=2.17;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=0.449;SOR=0.509	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2119,225,0	8	1	1	0
chr7	30785928	30785928	C	A	exonic	MINDY4	.	nonsynonymous SNV	MINDY4:NM_032222:exon4:c.C599A:p.S200Y	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0074	0.00179712	0.0081	0.0013	0.0031	0	0.0110	0.0124	0.0133	0.0015	0.0079106	1223	154602	rs75843887	0.0081	0.0081	0.0083	0.0080	0.0088	0.0080	0.0080	0.0087	0.0086	0.0010	0.0032	0.0227	0	0.0127	0.0054	0.0088	0.0080	0.0011	0.0069	0.0069	0.0070	0.0069	0.0106	0.0066	0.0065	0.0099	0.0097	0.0015	0	0.0036	0.0230	0	0.0112	0.0068	0.0106	0.0080	0.0010	0.034	0.44029	D	0.204	0.27235	T	0.028	0.19712	B	0.01	0.14941	B	0.503743	0.05107	N	1.264020	0.999958	0.19072	N	.	.	.	3.97	0.03326	T	-1.32	0.32991	N	0.288	0.32591	-0.9421	0.42282	T	0.005	0.01761	T	10	0.004668385	0.00098	T	.	.	.	0.069	0.20116	.	.	0.136095386433	0.13204	0.2080776453888669	0.20723	0.0578573084616	0.06410	0.273562699556	0.06611	T	0.006385	0.05814	T	-0.674081	0.00052	T	-0.72937	0.04355	T	0.00581277827046626	0.00064	T	0.634537	0.24876	T	0.055441633	0.10775	0.07531553	0.16570	0.055441633	0.10774	0.07531553	0.16569	-5.595	0.42746	T	.	.	0.083	0.09288	B	.	.	0.469521	0.08392	5.145	0.77028685623847437	0.11707	0.06867	0.12892	N	AEFDBI	0.066421	0.13007	N	-0.649588119683149	0.17472	0.8993939	-0.538216093125873	0.21119	1.140972	0.99733953605908	0.35509	0.656854	0.48797	0	0.588015	0.36545	0	0.67347	0.61138	0	0.635551	0.53088	0	.	.	5.39	2.08	0.26079	-0.281000	0.08489	-1.362000	0.05620	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.0:0.339:0.2936:0.3673	2.886	0.05312	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.005848	0.050000	0.008621	0.015244	0.003788	0.1	3665.12	33	chr7	30785928	.	C	A	3665.12	.	AC=2;AF=0.1;AN=20;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.33;SOR=1.208	GT:AD:DP:GQ:PL	1/1:0,117:117:99:3688,351,0	9	1	0	0
chr7	43595984	43595984	A	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon2:c.A290G:p.K97R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0134554722007	0.0006	0.000399361	0.0003	0.0004	0.0004	0	0.0002	0.0004	0	0	0.0003299	51	154602	rs138232263	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	0.0001	0.0004	3.827e-05	0	9.366e-05	0.0005	0.0006	0.0003	0	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	0	0	0	0.0002	0	0.0006	0.0005	0	1.0	0.00964	T	0.66	0.06511	T	1.0	0.90584	D	1.0	0.97372	D	0.000122	0.49741	D	0.000000	0.999852	0.49910	D	1.52	0.38360	L	-0.16	0.65378	T	-0.01	0.07155	N	0.208	0.23125	-0.6569	0.62413	T	0.289	0.66084	T	10	0.088591844	0.15269	T	0.013455	0.32862	T	0.251	0.56024	.	.	0.772553812157	0.77047	0.3895243272622443	0.38867	0.702793909677	0.61229	0.715313792229	0.69364	T	0.006681	0.06107	T	-0.253209	0.13708	T	-0.256556	0.49168	T	0.0317641476484659	0.02268	T	.	.	.	0.12679279	0.29688	0.07829547	0.17522	0.12679279	0.29688	0.07829547	0.17522	-2.364	0.04917	T	.	.	0.114	0.22609	B	.	.	3.484478	0.48678	22.7	0.99395976803822483	0.62565	0.90509	0.51744	D	AEFDBIJ	0.507585	0.53782	D	0.406377508720091	0.61773	4.38297	0.424582666244862	0.63100	4.537252	0.999999997327164	0.74766	0.736574	0.97449	0	0.698795	0.70079	0	0.658983	0.55881	0	0.677812	0.66336	0	.	.	4.88	4.88	0.63131	2.438000	0.44495	5.900000	0.50875	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.492	0.67238	732	0.54084	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1314.43	34	chr7	43595984	.	A	G	1314.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.278;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.091;SOR=0.728	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1326,0,1549	9	0	1	0
chr7	44571636	44571636	T	C	exonic	DDX56	.	nonsynonymous SNV	DDX56:NM_001257189:exon6:c.A746G:p.Y249C,DDX56:NM_019082:exon6:c.A746G:p.Y249C	.	430	1037	55	0	0	55	0.0258337	.	.	.	700085	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	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	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.006793	0.020468	0.000000	0.051724	0.009146	0.015152	0.05	1894.43	39	chr7	44571636	.	T	C	1894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.301;DP=539;ExcessHet=0;FS=5.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-2.736;SOR=1.036	GT:AD:DP:GQ:PL	0/1:109,84:193:99:1906,0,2654	9	0	1	0
chr7	47303112	47303112	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon22:c.C3295T:p.P1099S	.	406	1082	32	2	0	36	0.0163636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	.	0.0002	0.00559105	0.0041	0.0002	0.0007	0.0002	0	0.0002	0.0034	0.0279	0.0035252	545	154602	rs185351500	0.0018	0.0018	0.0010	0.0026	0.0266	0.0017	0.0017	0.0257	0.0253	8.961e-05	0.0002	0.0003	2.519e-05	0	0.0035	0.0001	0.0019	0.0266	0.0010	0.0010	0.0007	0.0014	0.0236	0.0009	0.0008	0.0201	0.0188	7.211e-05	0.0088	0.0008	0.0003	0	0	0.0034	0.0002	0.0009	0.0236	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000019	0.62929	D	0.067253	0.999957	0.81001	D	3.255	0.89877	M	-3.75	0.99255	D	-6.19	0.90332	D	0.628	0.64223	1.119	0.99903	D	0.965	0.98873	D	10	0.011156976	0.00245	T	.	.	.	0.603	0.84345	.	.	0.855611554885	0.85421	0.5796115620834176	0.57890	.	.	0.673968195915	0.63403	T	0.556353	0.85070	D	-0.0311852	0.47243	T	0.203378	0.83311	D	0.126873841887387	0.15090	T	0.957104	0.83854	D	0.6748754	0.76694	0.68013376	0.81206	0.6748754	0.76695	0.68013376	0.81207	-10.997	0.79642	D	.	.	0.897	0.85441	P	.;.	.;.	4.398984	0.67958	25.2	0.99932033070223714	0.99439	0.96273	0.68337	D	AEFDBCI	0.922080	0.89653	D	0.754246687938273	0.83183	7.950563	0.777913695516357	0.88220	9.500883	0.999999999999638	0.74766	0.626454	0.40138	0	0.588066	0.40923	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.66	5.66	0.87293	9.375000	0.96582	11.521000	0.93046	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.237	0.86886	906	0.23090	.;.	.	.	.	.	.	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	0.005035	0.000000	0.001359	0.002924	0.000000	0.000000	0.015244	0.011364	0.05	1910.43	34	chr7	47303112	.	G	A	1910.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.603;SOR=0.678	GT:AD:DP:GQ:PL	0/1:85,78:163:99:1922,0,2083	9	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	916.9	137	chr7	47829596	.	G	C	916.9	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.646;DP=1246;ExcessHet=22.563;FS=294.996;InbreedingCoeff=-0.914;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.475;SOR=11.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,20:92:1:0|1:47829595_G_C:1,0,1720:47829595	4	0	6	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4375	1877.94	33	chr7	50368104	.	C	G	1877.94	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-4.104;DP=1523;ExcessHet=7.0302;FS=219.639;InbreedingCoeff=-0.6579;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=2.04;SOR=11.783	GT:AD:DP:GQ:PL	0/1:119,32:175:24:24,0,1972	1	0	7	2
chr7	50445796	50445796	A	G	exonic	FIGNL1	.	nonsynonymous SNV	FIGNL1:NM_001287495:exon2:c.T1492C:p.F498L,FIGNL1:NM_001287493:exon3:c.T1492C:p.F498L,FIGNL1:NM_001287494:exon3:c.T1492C:p.F498L,FIGNL1:NM_001042762:exon4:c.T1492C:p.F498L,FIGNL1:NM_001287492:exon4:c.T1492C:p.F498L,FIGNL1:NM_001287496:exon4:c.T1159C:p.F387L,FIGNL1:NM_001346561:exon4:c.T1492C:p.F498L,FIGNL1:NM_001346562:exon4:c.T1492C:p.F498L,FIGNL1:NM_001346564:exon4:c.T1492C:p.F498L,FIGNL1:NM_022116:exon4:c.T1492C:p.F498L,FIGNL1:NM_001346560:exon5:c.T1492C:p.F498L,FIGNL1:NM_001346563:exon5:c.T1492C:p.F498L,FIGNL1:NM_001346565:exon5:c.T1492C:p.F498L,FIGNL1:NM_001346558:exon6:c.T1159C:p.F387L,FIGNL1:NM_001346559:exon6:c.T1159C:p.F387L	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	0.252353918501	.	.	8.257e-06	0	0	0.0001	0	0	0	0	3.84e-05	1	26028	rs766417250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1.39	0.34934	L	-3.35	0.94022	D	-5.92	0.88963	D	0.773	0.78356	0.971	0.96720	D	0.889	0.96315	D	10	0.9669032	0.96191	D	0.252354	0.89169	D	0.863	0.95839	0.916	0.98422	0.990245638556	0.99013	0.7826265620725384	0.78213	0.174014622126	0.19591	0.915198326111	0.97937	D	0.640703	0.88978	D	0.444554	0.92234	D	0.400795	0.92138	D	0.998940050601959	0.95661	D	0.990658	0.97102	D	0.9549575	0.96769	0.94267124	0.97942	0.9549575	0.96769	0.94267124	0.97942	-13.174	0.90066	D	.	.	0.999	0.97850	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.168474	0.86628	29.0	0.9989825904059455	0.97048	0.99144	0.91875	D	AEGBI	0.926562	0.90785	D	0.924040584542827	0.92887	11.68914	0.915964990655774	0.96230	14.45097	0.999999999999983	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.17	6.17	0.99707	9.325000	0.96006	11.241000	0.90426	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.003	0.80122	768	0.49510	ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2263.43	37	chr7	50445796	.	A	G	2263.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.368;DP=614;ExcessHet=0;FS=3.985;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.315;SOR=0.984	GT:AD:DP:GQ:PL	0/1:115,92:207:99:2275,0,3156	9	0	1	0
chr7	51029262	51029262	G	A	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001346442:exon10:c.C1834T:p.R612C,COBL:NM_001346443:exon10:c.C1834T:p.R612C,COBL:NM_015198:exon10:c.C1834T:p.R612C,COBL:NM_001287436:exon11:c.C2005T:p.R669C,COBL:NM_001346441:exon11:c.C2005T:p.R669C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0221303668082	.	.	8.316e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs778387480	5.485e-06	5.472e-06	2.727e-06	8.275e-06	3.001e-05	2.36e-06	1.71e-06	1.94e-06	1.28e-06	3.001e-05	2.252e-05	0	0	0	0	5.406e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.005	0.63226	D	0.011	0.67890	D	0.997	0.70673	D	0.424	0.51631	B	0.140267	0.02880	N	1.867390	1	0.08975	N	1.245	0.31408	L	1.81	0.25182	T	-2.76	0.58569	D	0.183	0.27197	-0.9919	0.32115	T	0.074	0.29992	T	10	0.14401627	0.27336	T	0.02213	0.44986	T	0.056	0.15993	0.405	0.43738	0.138757226776	0.13463	0.1989967773851411	0.19816	0.288925313761	0.31300	0.189640849829	0.00219	T	0.058592	0.62815	T	-0.204899	0.20102	T	-0.532099	0.19077	T	0.788608253002167	0.45598	D	0.814918	0.47377	T	0.11380952	0.26875	0.069925524	0.14794	0.11380952	0.26875	0.069925524	0.14794	-4.091	0.26490	T	.	.	0.126	0.26825	B	.;.;.;.	.;.;.;.	1.354197	0.17625	13.27	0.99744086099677964	0.83703	0.06529	0.12541	N	AEFDBHI	0.227375	0.35119	N	-0.421878873938008	0.24704	1.335788	-0.581723369684373	0.19970	1.073838	0.999943256566387	0.47345	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.7	0.657	0.17021	0.638000	0.24363	0.247000	0.16380	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0922:0.3544:0.5533	8.881	0.34535	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2710.43	35	chr7	51029262	.	G	A	2710.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.11;DP=764;ExcessHet=0;FS=1.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.537;SOR=0.595	GT:AD:DP:GQ:PL	0/1:87,95:182:99:2722,0,2022	9	0	1	0
chr7	64992996	64992996	A	C	exonic	ERV3-1	.	nonsynonymous SNV	ERV3-1:NM_001007253:exon2:c.T31G:p.L11V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000984474467157	.	0.000199681	2.652e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs527371085	2.777e-05	2.704e-05	1.799e-05	3.589e-05	7.17e-05	1.691e-05	1.382e-05	2.794e-05	1.82e-05	0	0	0	0	0	0	3.442e-05	0	7.17e-05	1.969e-05	1.968e-05	2.57e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.02	0.49613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	0.345	0.11182	N	2.33	0.16492	T	0.06	0.06253	N	0.18	0.19459	-0.9878	0.33151	T	0.022	0.09375	T	6	0.05550751	0.06079	T	9.84E-4	0.01026	T	0.014	0.01968	0.262	0.20631	0.136095386433	0.13204	0.6911040604638751	0.69050	0.0420829138621	0.04528	0.471637248993	0.34906	T	0.005711	0.05159	T	-0.450059	0.01128	T	-0.680655	0.06944	T	0.0438547060750389	0.04393	T	0.319968	0.06445	T	0.099253245	0.23422	0.11338119	0.27364	0.099253245	0.23421	0.11338119	0.27363	-4.273	0.27797	T	.	.	0.075	0.05579	B	.	.	1.454328	0.18756	13.91	0.97522736598427318	0.34411	0.05824	0.11764	N	AEFBI	0.051509	0.09106	N	-0.529714025328983	0.21124	1.118759	-0.606381924380972	0.19329	1.036536	0.880471116222338	0.25608	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	0.109	0.109	0.13884	0.228000	0.17594	.	.	0.260000	0.18395	0.833000	0.30177	0.918000	0.28264	0.879000	0.42020	.	.	.	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	879.43	42	chr7	64992996	.	A	C	879.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.482;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-1.106;SOR=0.73	GT:AD:DP:GQ:PL	0/1:39,34:73:99:891,0,1063	9	0	1	0
chr7	77749537	77749537	A	G	exonic	RSBN1L	.	nonsynonymous SNV	RSBN1L:NM_198467:exon3:c.A817G:p.S273G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00624801470201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	2.725e-06	1.377e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.37326	T	0.247	0.23914	T	0.93	0.51791	P	0.712	0.54560	P	0.000000	0.84330	D	0.124901	0.568237	0.32271	D	2.125	0.59049	M	3.08	0.08460	T	-1.66	0.39692	N	0.315	0.45331	-1.0918	0.05238	T	0.040	0.17020	T	10	0.21379635	0.37882	T	0.006248	0.16406	T	0.132	0.35948	0.21	0.12781	0.110392049598	0.10638	0.07602950945399418	0.07538	0.311052702328	0.33406	0.39835703373	0.24840	T	0.066201	0.32883	T	-0.119809	0.33155	T	-0.409874	0.32240	T	0.857555568218231	0.50830	D	0.916908	0.70254	D	0.23552312	0.46389	0.20405512	0.44512	0.23552312	0.46389	0.20405512	0.44511	-3.723	0.26490	T	.	.	0.146	0.32226	B	.;.	.;.	4.400217	0.67983	25.2	0.99828244610768702	0.91026	0.97324	0.74033	D	AEFDBI	0.735384	0.68122	D	0.534587030253905	0.69150	5.316287	0.591151242406188	0.74303	6.114284	0.999995017798101	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	5.313000	0.65584	11.264000	0.91177	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.424	0.83629	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	881.43	33	chr7	77749537	.	A	G	881.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.312;DP=370;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-1.057;SOR=0.513	GT:AD:DP:GQ:PL	0/1:31,36:67:99:893,0,778	9	0	1	0
chr7	82066526	82066526	-	AAA	splicing	CACNA2D1	NM_001366867:exon8:c.659-2->TTT;NM_000722:exon8:c.659-2->TTT;NM_001302890:exon8:c.659-2->TTT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370103843	0.0001	0.0003	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0001	0.0001	0.0002	5.668e-05	0.0003	0	0.0001	0.0001	0.0006	1.79e-05	6.298e-05	1.701e-05	1.888e-05	4.011e-05	2.97e-06	1.11e-06	6.65e-06	2.49e-06	0	0	0	0	0	0	0	4.011e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	948.06	26	chr7	82066526	.	T	TAAA	948.06	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.743;DP=349;ExcessHet=2.8549;FS=0.583;InbreedingCoeff=-0.2769;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=1.44;SOR=0.754	GT:AD:DP:GQ:PL	0/1:2,3:15:47:243,142,262	9	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	764.96	190	chr7	93102964	.	C	G	764.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-6.623;DP=1746;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.6656;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.095;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,26:165:99:.:.:199,0,4725:.	2	0	8	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1530.03	190	chr7	93102965	.	C	G	1530.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.233;DP=1910;ExcessHet=22.563;FS=128.174;InbreedingCoeff=-0.9987;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.483;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,33:166:99:.:.:199,0,4731:.	0	0	10	0
chr7	95284095	95284095	T	C	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon15:c.T3254C:p.M1085T,PPP1R9A:NM_001166162:exon15:c.T3308C:p.M1103T,PPP1R9A:NM_001166160:exon17:c.T3374C:p.M1125T	.	429	1091	2	0	0	2	0.000915751	.	.	.	711200	not_provided|PPP1R9A-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.0144835210125	0.0076	0.00219649	0.0057	0.0015	0.0019	0	0.0036	0.0092	0.0034	0.0013	0.0055239	854	154602	rs117573976	0.0091	0.0091	0.0095	0.0088	0.0109	0.0090	0.0089	0.0108	0.0107	0.0010	0.0031	0.0019	0	0.0049	0.0017	0.0109	0.0081	0.0013	0.0053	0.0053	0.0055	0.0050	0.0088	0.0050	0.0049	0.0082	0.0079	0.0014	0	0.0058	0.0017	0.0002	0.0044	0	0.0088	0.0033	0.0004	0.001	0.78490	D	0.035	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.4	0.15843	T	-2.37	0.54864	N	0.285	0.39760	-1.0493	0.14593	T	0.020	0.08266	T	9	0.007053435	0.00160	T	0.014484	0.34624	T	0.101	0.28911	.	.	0.31291088546	0.30898	0.2968393850924641	0.29596	0.221745772331	0.24710	0.442933440208	0.30979	T	.	.	.	-0.541011	0.00330	T	-0.542795	0.18023	T	0.0287728413600755	0.01803	T	0.554445	0.19192	T	.	.	.	.	.	.	.	.	-0.761	0.01818	T	.	.	0.277	0.58803	B	.;.;.;.	.;.;.;.	3.417908	0.47442	22.5	0.94411546735286067	0.24810	0.97257	0.73623	D	AEFBI	0.651074	0.62495	D	-0.136208238478353	0.35824	2.062627	0.0537676078992911	0.42254	2.552576	0.99812091106589	0.36460	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.620846	0.47308	0	.	.	4.4	4.4	0.52402	4.487000	0.60022	4.003000	0.41092	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.711000	0.34484	0.0:0.0:0.0:1.0	14.697	0.68742	844	0.36711	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2012.43	33	chr7	95284095	.	T	C	2012.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.734;DP=523;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.28;SOR=0.557	GT:AD:DP:GQ:PL	0/1:121,89:210:99:2024,0,3186	9	0	1	0
chr7	98851600	98851600	C	T	exonic	TMEM130	.	nonsynonymous SNV	TMEM130:NM_001134451:exon5:c.G521A:p.R174H,TMEM130:NM_001134450:exon6:c.G827A:p.R276H,TMEM130:NM_152913:exon6:c.G827A:p.R276H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00994330630132	0.0002	0.00139776	0.0002	0.0004	0.0002	0.0021	0	6.689e-05	0	0	0.0002135	33	154602	rs144982521	6.641e-05	6.772e-05	5.993e-05	7.295e-05	0.0006	5.566e-05	5.156e-05	0.0004	0.0003	0.0006	6.733e-05	0	0.0006	1.874e-05	0	3.779e-05	8.284e-05	3.482e-05	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	0.0001	0.0008	0.0006	0.0003	0	0.0003	0	0.0015	0	0	1.47e-05	0	0	0.208	0.19782	T	0.161	0.31629	T	0.994	0.66517	D	0.736	0.55529	P	0.013465	0.28831	N	0.356150	0.968851	0.26541	N	1.95	0.52479	M	2.45	0.15028	T	-0.63	0.24676	N	0.272	0.35514	-1.0738	0.08598	T	0.037	0.16073	T	10	0.018326253	0.00398	T	0.009943	0.25878	T	0.053	0.14996	.	.	0.19670166235	0.19296	0.4283844789094266	0.42755	0.723985850288	0.62362	0.328013300896	0.14633	T	0.064366	0.32416	T	-0.567818	0.00228	T	-0.595192	0.13218	T	0.0429850626755425	0.04234	T	0.770923	0.40135	T	0.09101228	0.21314	0.095538504	0.22664	0.09101228	0.21314	0.095538504	0.22664	-6.157	0.48888	T	.	.	0.082	0.11269	B	.;.;.;.	.;.;.;.	3.151352	0.42657	21.6	0.9988722818572815	0.96204	0.39212	0.26162	N	AEFDBI	0.171086	0.29803	N	0.0424451264410877	0.43796	2.665564	0.0111949822937072	0.40235	2.398	0.0193871256619733	0.13157	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.5	2.85	0.32333	1.481000	0.35083	0.298000	0.16948	-0.193000	0.09282	0.853000	0.30494	0.014000	0.20376	0.980000	0.58198	0.6289:0.3711:0.0:0.0	11.749	0.51106	510	0.75209	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	977.43	35	chr7	98851600	.	C	T	977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.32;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.8;SOR=0.832	GT:AD:DP:GQ:PL	0/1:37,37:74:99:989,0,831	9	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6711.04	102	chr7	100175805	.	G	C	6711.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.794;DP=1021;ExcessHet=22.563;FS=312.371;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.2;SOR=11.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,29:104:99:0|1:100175805_G_C:359,0,2665:100175805	0	0	10	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	2147.25	93	chr7	100773851	.	A	*	2147.25	.	AC=11;AF=0.55;AN=20;DP=894;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=11;MLEAF=0.55;MQ=60;QD=2.73;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,59:123:99:0|1:100773849_CCAT_C:2285,0,2489:100773849	2	3	5	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2395.99	585	chr7	100952945	.	C	*	2395.99	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.589;DP=6147;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=58.41;MQRankSum=-8.207;QD=0.39;ReadPosRankSum=3.15;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:459,129:643:99:0|1:100952942_T_G:4035,0,18885:100952942	3	0	7	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6958.44	427	chr7	100953156	.	C	*	6958.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.64;DP=5266;ExcessHet=22.563;FS=8.617;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=57.64;MQRankSum=-15.09;QD=1.34;ReadPosRankSum=1.11;SOR=1.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,110:520:99:0|1:100953098_G_C:3535,0,14785:100953098	3	0	7	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1072.04	423	chr7	100953158	.	G	*	1072.04	.	AC=9;AF=0.45;AN=20;BaseQRankSum=3.81;DP=5175;ExcessHet=22.563;FS=12.462;InbreedingCoeff=-1;MLEAC=9;MLEAF=0.45;MQ=57.63;MQRankSum=-15.35;QD=0.21;ReadPosRankSum=1.34;SOR=1.511	GT:AD:DP:GQ:PL	0/1:356,105:510:99:3337,0,14632	1	0	9	0
chr7	100953365	100953366	TC	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.1586_1587del:p.F529Sfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.645e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.383e-05	0.0049	3.299e-05	3.471e-05	6.272e-05	1.09e-05	6.33e-06	1.039e-05	3.88e-06	6.272e-05	0	0	0	0	0.0001	0	1.912e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	54.39	524	chr7	100953364	.	TTC	T	54.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.624;DP=5819;ExcessHet=0;FS=35.185;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.32;MQRankSum=-9.627;QD=0.09;ReadPosRankSum=-0.403;SOR=5.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:564,42:606:66:0|1:100953296_C_A:66,0,23556:100953296	9	0	1	0
chr7	100955175	100955175	G	0	exonic	MUC3A	.	.	.	.	498	860	77	0	87	164	0.0428492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1047.75	313	chr7	100955175	.	G	*	1047.75	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.84;DP=3100;ExcessHet=1.5895;FS=8.957;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.056;MQ=58.27;MQRankSum=-14.25;QD=0.8;ReadPosRankSum=-0.764;SOR=1.515	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:272,79:393:99:.:.:2498,0,11183:.	8	0	1	1
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	42275.8	541	chr7	100960582	.	T	*	42275.8	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.435;DP=6282;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=0.055;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:370,125:623:92:0|1:100960582_T_A:5842,0,14758:100960582	7	0	3	0
chr7	100960586	100960586	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G8807A:p.R2936H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	0.0002	.	6.176e-05	0.0001	0	0	0	8.071e-05	0	6.22e-05	5.82e-05	9	154602	rs375708208	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	5.975e-05	0	0	0	0	0	0.0002	0.0002	3.478e-05	6.566e-05	8.535e-05	2.568e-05	0.0001	0.0001	3.514e-05	2.614e-05	6.802e-05	5.086e-05	2.411e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	0.159	0.31527	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.05799	-0.9698	0.37242	T	0.013	0.04938	T	8	0.06144315	0.07705	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.29031358105202604	0.28944	.	.	0.181505531073	0.00109	T	.	.	.	-0.221326	0.17814	T	-0.555696	0.16783	T	0.0382466576993465	0.03375	T	0.542346	0.18433	T	0.029042494	0.02337	0.05156717	0.08325	0.029042494	0.02336	0.05156717	0.08325	-4.828	0.34916	T	.	.	0.101	0.17742	B	.;.	.;.	1.508846	0.19389	14.24	0.99252930510070081	0.56924	0.00285	0.01534	N	AEFDBI	0.045243	0.07376	N	-0.927221944428088	0.10209	0.4867622	-1.1144121627807	0.07425	0.3610756	0.00391422482927848	0.10337	0.581397	0.33459	0	0.563428	0.19063	0	0.565031	0.19037	0	0.530356	0.10902	0	.	.	1.96	-0.0299	0.13242	-0.060000	0.11669	-4.164000	0.02306	-0.322000	0.05848	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6082:0.2363:0.1555	4.849	0.12888	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3321.43	527	chr7	100960586	.	G	A	3321.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.777;DP=5880;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.12;SOR=0.658	GT:AD:DP:GQ:PL	0/1:459,168:627:99:3333,0,15974	9	0	1	0
chr7	103557156	103557156	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon38:c.C5618T:p.T1873I,RELN:NM_173054:exon38:c.C5618T:p.T1873I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	5	1441	66	10	0	86	0.0289757	.	.	.	177377	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|RELN-related_disorder|not_provided|not_specified	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	.	0.0023	0.00259585	0.0044	0.0006	0.0013	0	0.0011	0.0038	0.0033	0.0149	0.0039974	618	154602	rs41275239	0.0036	0.0036	0.0031	0.0041	0.0156	0.0035	0.0035	0.0149	0.0146	0.0005	0.0010	0.0089	2.522e-05	0.0008	0.0125	0.0029	0.0039	0.0156	0.0027	0.0027	0.0025	0.0029	0.0193	0.0025	0.0024	0.0161	0.0150	0.0006	0.0154	0.0009	0.0081	0	0.0004	0.0102	0.0033	0.0033	0.0193	0.409	0.10659	T	0.092	0.39954	T	0.001	0.12996	B	0.002	0.12992	B	0.000047	0.53742	D	0.167803	0.995457	0.42699	D	0.665	0.16292	N	1.88	0.23884	T	-1.15	0.29525	N	0.297	0.36884	-1.1066	0.03378	T	0.063	0.26029	T	10	0.006139159	0.00138	T	.	.	.	0.064	0.18567	.	.	0.151262610727	0.14761	0.36964579770135547	0.36878	0.185958582119	0.20903	0.539009332657	0.44306	T	0.057476	0.30576	T	-0.537201	0.00348	T	-0.532104	0.19077	T	0.015456933726748	0.00347	T	0.867413	0.56831	D	0.14101699	0.32510	0.17155404	0.39346	0.157696	0.35519	0.17927895	0.40651	-3.941	0.22918	T	0.10417546178359656	0.08118	0.088	0.11606	B	.;.;.	.;.;.	3.200901	0.43526	21.8	0.99059792804306646	0.51459	0.94579	0.61626	D	AEFBI	0.811231	0.73427	D	0.110212383688809	0.46938	2.926677	0.307183394079608	0.55960	3.758986	0.834191241572407	0.24747	0.536767	0.22168	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	6.195000	0.72012	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.07:0.0:0.93:0.0	14.526	0.67476	901	0.24189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.004076	0.005848	0.000000	0.000000	0.012195	0.026515	0.05	1136.43	38	chr7	103557156	.	G	A	1136.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=385;ExcessHet=0;FS=1.171;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=-0.817;SOR=0.521	GT:AD:DP:GQ:PL	0/1:29,38:67:99:1148,0,795	9	0	1	0
chr7	105875852	105875852	C	A	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001385596:exon2:c.G210T:p.E70D,ATXN7L1:NM_020725:exon2:c.G210T:p.E70D,ATXN7L1:NM_152749:exon2:c.G210T:p.E70D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00864304565198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.336	0.54934	T	0.384	0.34453	B	0.101	0.30765	B	0.012359	0.29204	N	0.210692	1	0.81001	D	1.09	0.27330	L	1.31	0.35405	T	-0.66	0.24898	N	0.393	0.43417	-1.0846	0.06480	T	0.074	0.29739	T	10	0.2060906	0.36858	T	0.008643	0.22829	T	0.032	0.07718	0.189	0.09907	0.67860767372	0.67587	0.21046762219100848	0.20962	0.595986134547	0.54857	0.695517539978	0.66497	T	0.005046	0.04473	T	-0.180387	0.23677	T	-0.49689	0.22670	T	0.469794481992722	0.31523	T	0.843516	0.52087	T	0.16754141	0.37156	0.12650251	0.30467	0.16754141	0.37156	0.12650251	0.30466	-3.555	0.20089	T	.	.	0.122	0.38263	B	.;.	.;.	4.834611	0.78871	27.0	0.99771693374704029	0.85918	0.82504	0.41722	D	AEFBCI	0.515675	0.54253	D	0.0875987388783515	0.45884	2.837651	0.254872136132378	0.52928	3.464396	0.999999991401464	0.74766	0.542737	0.22433	0	0.563428	0.19063	0	0.685571	0.62057	0	0.665054	0.64577	0	.	.	5.56	5.56	0.83678	2.761000	0.47270	7.662000	0.64290	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9253:0.0:0.0747	12.812	0.57025	719	0.55657	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1325.43	45	chr7	105875852	.	C	A	1325.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.566;DP=494;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.324;SOR=0.653	GT:AD:DP:GQ:PL	0/1:78,59:137:99:1337,0,2013	9	0	1	0
chr7	107298193	107298193	T	C	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon5:c.A548G:p.H183R,COG5:NM_001379515:exon7:c.A692G:p.H231R,COG5:NM_001161520:exon12:c.A1262G:p.H421R,COG5:NM_001379511:exon12:c.A1262G:p.H421R,COG5:NM_001379512:exon12:c.A1262G:p.H421R,COG5:NM_001379513:exon12:c.A1262G:p.H421R,COG5:NM_001379514:exon12:c.A1262G:p.H421R,COG5:NM_006348:exon12:c.A1262G:p.H421R,COG5:NM_181733:exon12:c.A1262G:p.H421R	Congenital disorder of glycosylation, type IIi	8	1477	34	3	0	40	0.0133601	.	.	.	309238	not_provided|COG5-congenital_disorder_of_glycosylation|COG5-related_disorder	MedGen:C3661900|MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	.	0.0032	0.00359425	0.0034	0.0008	0.0021	0	0.0008	0.0044	0.0088	0.0046	0.0033635	520	154602	rs35393416	0.0039	0.0040	0.0038	0.0041	0.0184	0.0039	0.0038	0.0156	0.0145	0.0005	0.0024	0.0031	2.524e-05	0.0014	0.0184	0.0042	0.0048	0.0049	0.0028	0.0028	0.0030	0.0026	0.0046	0.0026	0.0025	0.0042	0.0040	0.0006	0	0.0027	0.0037	0	0.0004	0.0102	0.0046	0.0038	0.0041	0.345	0.15303	T	0.374	0.16280	T	0.006	0.15535	B	0.01	0.19966	B	0.045775	0.23504	N	0.497022	1	0.08975	N	0.895	0.22405	L	0.67	0.52187	T	-0.68	0.19720	N	0.306	0.34552	-1.0478	0.15016	T	0.057	0.23791	T	10	0.0037671328	0.00070	T	.	.	.	0.043	0.11576	.	.	0.526539220858	0.52300	0.28366215763521374	0.28279	0.0637909203938	0.07108	0.374383628368	0.21458	T	0.004263	0.03670	T	-0.512833	0.00484	T	-0.508472	0.21472	T	0.0047717878686339	0.00051	T	0.633837	0.24812	T	0.04289514	0.06590	0.047563996	0.06880	0.03286603	0.03394	0.04435043	0.05725	-2.74	0.08028	T	.	.	0.073	0.05623	B	.;.;.	.;.;.	1.314671	0.17179	13.01	0.65716210919453166	0.07851	0.43873	0.27194	N	AEFGI	0.123842	0.23963	N	-0.794909827317595	0.13442	0.6622209	-0.697013875268555	0.17035	0.903974	0.826393147105066	0.24614	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.633917	0.49826	0	.	.	5.68	4.52	0.54797	1.859000	0.39058	3.534000	0.38969	-0.128000	0.13240	0.744000	0.29069	1.000000	0.68203	0.884000	0.42379	0.1327:0.0:0.1391:0.7282	8.252	0.30891	666	0.61362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.020202	0.005435	0.005848	0.000000	0.025862	0.030488	0.011364	0.05	893.43	33	chr7	107298193	.	T	C	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.765;DP=379;ExcessHet=0;FS=2.006;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.33;SOR=0.446	GT:AD:DP:GQ:PL	0/1:36,40:76:99:905,0,874	9	0	1	0
chr7	111122873	111122873	C	T	exonic	LRRN3	.	nonsynonymous SNV	LRRN3:NM_018334:exon2:c.C101T:p.T34M,LRRN3:NM_001099658:exon3:c.C101T:p.T34M,LRRN3:NM_001099660:exon4:c.C101T:p.T34M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.079689806759	.	.	2.474e-05	9.61e-05	0	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs761418614	3.147e-05	3.215e-05	2.587e-05	3.713e-05	3.478e-05	2.413e-05	2.158e-05	2.201e-05	1.942e-05	0	2.237e-05	0	2.52e-05	0	0	3.058e-05	0.0001	3.478e-05	4.601e-05	4.597e-05	5.139e-05	4.037e-05	0.0002	2.11e-05	1.527e-05	2.263e-05	9.08e-06	2.413e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0002	0.034	0.44029	D	0.059	0.45961	T	0.329	0.33227	B	0.039	0.23607	B	0.000364	0.45194	D	0.096235	1	0.81001	D	0.69	0.16971	N	-4.09	0.96627	D	-0.57	0.17210	N	0.208	0.23125	0.273	0.87119	D	0.776	0.92384	D	10	0.33893117	0.50989	T	0.07969	0.73291	D	0.414	0.72479	.	.	0.679853016295	0.67712	0.41487459834368057	0.41403	0.267841764005	0.29320	0.354496896267	0.18582	T	0.024621	0.18566	T	-0.0284634	0.47639	T	-0.0971343	0.63618	T	0.080956391555986	0.10109	T	0.772323	0.43319	T	0.046802554	0.07894	0.051420618	0.08271	0.046802554	0.07894	0.051420618	0.08271	-6.008	0.46347	T	.	.	0.083	0.09820	B	.;.;.;.	.;.;.;.	3.664715	0.52079	23.2	0.93899605952803056	0.23928	0.76942	0.37779	D	AEFGBI	0.134866	0.25502	N	0.156069934407052	0.49100	3.114187	0.317126678108681	0.56546	3.818041	0.2021737843554	0.18137	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	2.409000	0.44236	7.716000	0.67067	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.937000	0.47636	0.0:0.8923:0.0:0.1077	11.359	0.48871	628	0.65206	Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain|Leucine-rich repeat N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2750.43	33	chr7	111122873	.	C	T	2750.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.182;DP=539;ExcessHet=0;FS=2.379;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.133;SOR=0.541	GT:AD:DP:GQ:PL	0/1:100,111:211:99:2762,0,2443	9	0	1	0
chr7	113878825	113878825	G	A	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.C2267T:p.P756L	Insulin resistance, severe, digenic, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	380221	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.428	0.038828040426	0.0011	0.00259585	0.0008	0.0027	0.0024	0	0	0.0005	0.0033	0.0001	0.0008021	124	154602	rs151310594	0.0005	0.0005	0.0005	0.0005	0.0025	0.0005	0.0005	0.0021	0.0020	0.0025	0.0025	0.0023	0	0	0.0016	0.0003	0.0016	0.0002	0.0017	0.0017	0.0018	0.0016	0.0061	0.0016	0.0015	0.0051	0.0047	0.0029	0	0.0061	0.0017	0	0	0.0102	0.0004	0.0043	0.0002	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000167	0.48594	D	0.090971	0.999995	0.58761	D	1.845	0.48678	L	0.38	0.57575	T	-4.24	0.76015	D	0.46	0.49692	-0.4205	0.71376	T	0.292	0.66364	T	10	0.0126564205	0.00271	T	0.038828	0.58453	D	0.428	0.73517	.	.	0.888805164886	0.88770	0.4253781106047073	0.42454	0.310035681446	0.33317	0.569407403469	0.48594	T	0.579839	0.86224	D	-0.16811	0.25519	T	-0.0191813	0.69082	D	0.0309679511578892	0.02142	T	0.854215	0.54045	D	0.50770956	0.67546	0.60386425	0.76976	0.50770956	0.67547	0.60386425	0.76977	-3.044	0.10663	T	.	.	0.403	0.59755	A	.	.	4.566351	0.72000	25.8	0.99899547572888459	0.97199	0.97734	0.76747	D	AEFBI	0.826469	0.74595	D	0.852800970584473	0.89268	9.902186	0.841376273097822	0.92501	11.46371	0.998053994870741	0.36367	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	6.580000	0.73930	11.935000	0.99966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	20.263	0.98454	802	0.44336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.040404	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	2984.43	153	chr7	113878825	.	G	A	2984.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=1343;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.61;SOR=0.728	GT:AD:DP:GQ:PL	0/1:106,108:214:99:2996,0,2863	9	0	1	0
chr7	115940588	115940588	C	T	exonic	TFEC	.	nonsynonymous SNV	TFEC:NM_001244583:exon6:c.G806A:p.R269K,TFEC:NM_001018058:exon7:c.G920A:p.R307K,TFEC:NM_012252:exon8:c.G1007A:p.R336K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00672361333901	.	.	8.314e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs755037902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.32610	T	0.087	0.40747	T	0.014	0.16867	B	0.017	0.18140	B	0.000002	0.62929	N	0.131966	0.999995	0.81001	D	2.725	0.79712	M	-0.28	0.67543	T	-1.6	0.38540	N	0.227	0.30800	-0.6536	0.62556	T	0.267	0.63865	T	10	0.17662531	0.32656	T	0.006724	0.17756	T	0.080	0.23350	0.327	0.31034	0.533469874242	0.52997	0.2951896840189321	0.29431	0.0606905089599	0.06755	0.528780817986	0.42862	T	0.677672	0.90501	D	-0.0348235	0.46714	T	-0.287798	0.46000	T	0.576164662837982	0.35471	D	0.854315	0.59928	D	0.3249751	0.55056	0.25983298	0.51738	0.3249751	0.55056	0.25983298	0.51737	-9.525	0.72748	D	.	.	0.128	0.35098	B	.;.;.	.;.;.	3.331848	0.45867	22.2	0.98473839442468714	0.41896	0.98634	0.84950	D	AEFDBHI	0.818194	0.73950	D	-0.00811459366157302	0.41488	2.482425	0.115848358846252	0.45358	2.800452	0.99999932216484	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.09	4.2	0.48814	4.364000	0.59253	1.583000	0.27486	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9245:0.0:0.0755	13.737	0.62309	710	0.56735	.;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	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1073.43	34	chr7	115940588	.	C	T	1073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.634;DP=413;ExcessHet=0;FS=0.869;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.728;SOR=0.574	GT:AD:DP:GQ:PL	0/1:51,40:91:99:1085,0,1473	9	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3889	3155.34	233	chr7	128479325	.	T	C	3155.34	.	AC=7;AF=0.389;AN=18;BaseQRankSum=3.39;DP=2112;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=57.37;MQRankSum=-12.3;QD=2.18;ReadPosRankSum=-3.823;SOR=5.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,23:186:99:0|1:128479325_T_C:475,0,6714:128479325	2	0	7	1
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.4375	3209.13	233	chr7	128479326	.	G	C	3209.13	.	AC=7;AF=0.438;AN=16;BaseQRankSum=2.7;DP=2129;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=57.39;MQRankSum=-12.3;QD=2.21;ReadPosRankSum=-3.844;SOR=5.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,23:186:99:0|1:128479325_T_C:475,0,6714:128479325	1	0	7	2
chr7	128794377	128794382	GAGGAA	-	exonic	CCDC136	.	nonframeshift deletion	CCDC136:NM_001367766:exon2:c.46_51del:p.E25_E26del,CCDC136:NM_022742:exon2:c.46_51del:p.E25_E26del,CCDC136:NM_001201372:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001363423:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001363424:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001367761:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001367762:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001367763:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001367764:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001367765:exon3:c.46_51del:p.E25_E26del	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.00399361	0.0014	0.0013	0	0.0162	0	0.0004	0.0043	0.0015	0.0005763	15	26028	rs539120350	0.0014	0.0014	0.0013	0.0015	0.0323	0.0013	0.0013	0.0307	0.0301	0.0020	0.0010	0	0.0323	0.0001	0.0009	0.0005	0.0015	0.0014	0.0016	0.0016	0.0015	0.0017	0.0237	0.0014	0.0014	0.0203	0.0190	0.0017	0	0.0006	0	0.0237	9.422e-05	0	0.0005	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1261.39	33	chr7	128794376	.	GGAGGAA	G	1261.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.636;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.71;ReadPosRankSum=0.228;SOR=0.798	GT:AD:DP:GQ:PL	0/1:31,33:64:99:1273,0,1182	9	0	1	0
chr7	130733583	130733583	G	T	exonic	KLF14	.	nonsynonymous SNV	KLF14:NM_138693:exon1:c.C451A:p.P151T	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00219649	0.0009	0	0	0.0239	0	0.0007	0	0	0.0003493	54	154602	rs201580039	0.0002	0.0003	0.0002	0.0003	0.0076	0.0002	0.0002	0.0068	0.0066	3.155e-05	0	3.997e-05	0.0076	4.321e-05	0.0004	3.795e-05	0.0003	0.0002	0.0003	0.0003	0.0003	0.0003	0.0076	0.0002	0.0002	0.0057	0.0051	0	0	0	0	0.0076	0	0	4.413e-05	0	0.0008	.	.	.	0.19	0.28482	T	0.164	0.28467	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.48	0.14657	T	.	.	.	0.029	0.00666	-0.9301	0.44124	T	0.010	0.03492	T	9	0.0036435425	0.00067	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.24078255776198437	0.23992	.	.	0.749298751354	0.74343	T	0.004209	0.03621	T	-0.646098	0.00076	T	-0.697266	0.05977	T	0.013801376719256	0.00261	T	0.331367	0.06940	T	0.031326506	0.02953	0.06526426	0.13202	0.031326506	0.02953	0.06526426	0.13201	-6.044	0.46646	T	.	.	0.131	0.28174	B	.	.	1.079724	0.14625	11.19	0.8143304666263359	0.13683	0.17903	0.20036	N	AEFDBCI	0.067558	0.13287	N	-1.06606642180888	0.07276	0.3375101	-1.10340471907682	0.07635	0.3721542	0.999986968030777	0.51787	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.94	1.94	0.25058	1.131000	0.31019	2.230000	0.31524	0.560000	0.28382	0.034000	0.20669	0.070000	0.22201	0.004000	0.06068	0.1797:0.0:0.8203:0.0	6.022	0.18859	928	0.17405	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004658	0.005495	0.002770	0.002976	0.000000	0.008772	0.006329	0.007692	0.05	428.43	31	chr7	130733583	.	G	T	428.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.881;DP=296;ExcessHet=0;FS=2.991;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.02;SOR=1.048	GT:AD:DP:GQ:PL	0/1:17,15:32:99:440,0,464	9	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	803.53	120	chr7	143478290	.	A	G	803.53	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.814;DP=831;ExcessHet=4.5998;FS=159.303;InbreedingCoeff=-0.3902;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.371;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,26:117:63:.:.:63,0,2154:.	4	0	6	0
chr7	144185634	144185634	A	G	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.A2131G:p.R711G,CTAGE4:NM_198495:exon1:c.A2131G:p.R711G	.	459	1062	1	0	0	1	0.000470588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00143175397523	.	0.00179712	0.0020	0.0005	0.0045	0	0	0.0024	0.0023	0.0016	0.00073	19	26028	rs573728934	0.0025	0.0030	0.0025	0.0025	0.0041	0.0024	0.0024	0.0037	0.0035	0.0003	0.0041	0.0006	0	0.0002	0.0009	0.0028	0.0024	0.0012	0.0019	0.0022	0.0018	0.0020	0.0057	0.0017	0.0016	0.0047	0.0044	0.0004	0	0.0057	0.0009	0	0	0.0038	0.0024	0.0032	0.0016	0.005	0.63226	D	0.335	0.18286	T	0.102	0.25827	B	0.113	0.31689	B	.	.	.	.	1	0.08975	N	2.085	0.57729	M	2.76	0.11515	T	-3.56	0.68880	D	0.28	0.31702	-1.0014	0.29516	T	0.033	0.14029	T	7	0.010407627	0.00232	T	0.001432	0.02139	T	0.057	0.16321	.	.	0.148003135375	0.14442	0.19758286396368985	0.19675	.	.	0.42931625247	0.29114	T	0.214572	0.57620	T	-0.568336	0.00226	T	-0.589433	0.13715	T	0.0332024303770281	0.02505	T	0.874113	0.58433	D	0.14777592	0.33767	0.18381691	0.41395	0.14777592	0.33766	0.18381691	0.41394	-3.811	0.20969	T	.	.	0.146	0.32178	B	.	.	1.660020	0.21171	15.08	0.77091210750287442	0.11733	0.05025	0.10807	N	AEFI	0.079201	0.15993	N	-0.738337379464098	0.14952	0.7492919	-0.887927386073107	0.12380	0.636449	7.75724767434952E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	0.663000	0.24735	1.331000	0.25669	0.272000	0.18543	0.991000	0.37257	0.141000	0.23092	0.004000	0.06068	.	.	.	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002265	0.005814	0.000000	0.000000	0.000000	0.000000	0.006849	0.004032	0.05	1057.43	42	chr7	144185634	.	A	G	1057.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.552;DP=725;ExcessHet=0;FS=2.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.64;MQRankSum=-0.147;QD=2.91;ReadPosRankSum=-0.988;SOR=0.892	GT:AD:DP:GQ:PL	0/1:287,76:363:99:1069,0,6750	9	0	1	0
chr7	149071906	149071906	G	C	exonic	ZNF786	.	nonsynonymous SNV	ZNF786:NM_152411:exon4:c.C866G:p.P289R	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00161652880562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532	0.06980	T	0.36	0.16964	T	0.0	0.02946	B	0.0	0.01387	B	0.001742	0.00822	N	4.005330	1	0.08975	N	-0.07	0.04846	N	3.17	0.07599	T	0.0	0.07008	N	0.051	0.02366	-0.9720	0.36776	T	0.010	0.03492	T	10	0.044201642	0.03351	T	0.001617	0.02625	T	0.032	0.07718	0.315	0.29096	0.0666544352282	0.05500	0.0633853862828874	0.06277	0.0543356685128	0.06005	0.224663853645	0.01596	T	0.020927	0.16390	T	-0.384047	0.02937	T	-0.789433	0.02180	T	0.0302299475167042	0.02025	T	0.258174	0.04088	T	0.040257614	0.05713	0.03699746	0.03260	0.040257614	0.05712	0.03699746	0.03260	-4.383	0.29326	T	.	.	0.093	0.14247	B	.;.	.;.	-1.324776	0.00417	0.008	0.40801598150319912	0.02903	0.02023	0.06073	N	AEFDBHCIJ	0.031335	0.03327	N	-1.76187910634356	0.00645	0.02783877	-1.8371997886008	0.00647	0.02877402	0.999999999999784	0.74766	0.675202	0.55065	0	0.653731	0.59785	0	0.67197	0.60751	0	0.635551	0.53088	0	.	.	3.63	-6.52	0.01703	-0.967000	0.03931	-2.461000	0.03726	-1.544000	0.00972	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2484:0.4144:0.2036:0.1336	2.079	0.03411	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	883.43	37	chr7	149071906	.	G	C	883.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.511;DP=442;ExcessHet=0;FS=3.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-1.73;SOR=0.856	GT:AD:DP:GQ:PL	0/1:66,43:109:99:895,0,1531	9	0	1	0
chr7	149210594	149210594	C	T	exonic	ZNF282	.	nonsynonymous SNV	ZNF282:NM_001303481:exon5:c.C842T:p.P281L,ZNF282:NM_003575:exon5:c.C842T:p.P281L	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00914831038258	0.0040	0.00179712	0.0044	0.0013	0.0046	0	0.0012	0.0067	0.0031	0.0007	0.0037386	578	154602	rs114454649	0.0054	0.0054	0.0055	0.0052	0.0064	0.0053	0.0052	0.0063	0.0062	0.0010	0.0028	0.0063	0	0.0017	0.0010	0.0064	0.0041	0.0005	0.0039	0.0039	0.0041	0.0036	0.0063	0.0036	0.0035	0.0058	0.0056	0.0012	0.0066	0.0035	0.0078	0	0.0010	0.0068	0.0063	0.0052	0.0004	0.029	0.45756	D	0.318	0.31833	T	0.02	0.18235	B	0.011	0.15521	B	0.192609	0.16806	N	0.489690	0.989564	0.40978	D	2.015	0.55033	M	5.16	0.01191	T	-2.94	0.61435	D	0.265	0.33250	-0.9916	0.32193	T	0.009	0.03359	T	10	0.0042740703	0.00086	T	0.009148	0.24059	T	0.091	0.26358	.	.	0.458917189328	0.45515	0.16323846862461214	0.16243	.	.	0.405170679092	0.25787	T	0.034596	0.23385	T	-0.622702	0.00106	T	-0.662117	0.08124	T	0.0427681110284051	0.04196	T	0.80032	0.44603	T	0.05366196	0.10188	0.06681093	0.13738	0.05366196	0.10187	0.06681093	0.13737	-8.619	0.65215	D	.	.	0.132	0.28464	B	.;.	.;.	2.692757	0.35150	19.82	0.98169380140775842	0.38848	0.30538	0.24108	N	AEFDBCI	0.166440	0.29303	N	-0.485497990652822	0.22555	1.205192	-0.306069914182919	0.27903	1.551641	0.999995396982122	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.29	5.29	0.74430	0.327000	0.19408	7.481000	0.59259	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.802000	0.37819	0.0:1.0:0.0:0.0	14.440	0.66887	929	0.16858	.;.	.	.	ZNF282|ZNF282|ZNF282|ZNF282|ZNF282|ZNF282|ZNF282|ZNF282	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Nerve_Tibial|Prostate|Skin_Sun_Exposed_Lower_leg	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.000000	0.002717	0.000000	0.050000	0.000000	0.006173	0.003788	0.05	1410.43	34	chr7	149210594	.	C	T	1410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.188;DP=425;ExcessHet=0;FS=3.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.361;SOR=0.427	GT:AD:DP:GQ:PL	0/1:62,60:122:99:1422,0,1526	9	0	1	0
chr7	149725329	149725329	A	G	exonic	KRBA1	.	nonsynonymous SNV	KRBA1:NM_001290187:exon10:c.A1243G:p.S415G,KRBA1:NM_032534:exon10:c.A1141G:p.S381G	.	418	1103	1	0	0	1	0.000453104	.	.	.	3272835	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0127904497065	.	.	7.526e-05	0	0.0003	0.0004	0	4.943e-05	0	0	2.59e-05	4	154602	rs755934763	2.916e-05	2.941e-05	2.756e-05	3.078e-05	0.0002	2.184e-05	1.936e-05	6.073e-05	4.194e-05	3.054e-05	0.0001	0	2.596e-05	0	0.0002	2.088e-05	1.678e-05	0.0001	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0.0005	0.0002	0.077	0.34095	T	0.009	0.66756	D	0.873	0.47975	P	0.319	0.41696	B	0.001741	0.38106	N	0.121491	0.940937	0.26794	N	1.87	0.49600	L	1.08	0.39401	T	-3.16	0.64246	D	0.29	0.32812	-1.0703	0.09348	T	0.066	0.27121	T	10	0.11376527	0.21383	T	0.01279	0.31668	T	0.057	0.16321	0.248	0.18447	0.101711395817	0.09552	0.10771126150855678	0.10700	.	.	0.459521085024	0.33244	T	0.22004	0.58322	T	-0.303818	0.08305	T	-0.458855	0.26724	T	0.119123424094582	0.14344	T	0.612539	0.23323	T	0.053158943	0.10018	0.077330805	0.17217	0.053158943	0.10018	0.077330805	0.17216	-6.135	0.47395	T	.	.	0.141	0.32178	B	.;.;.	.;.;.	1.477795	0.19028	14.05	0.98866474977528385	0.47563	0.64595	0.32458	D	AEFBCI	0.125890	0.24260	N	0.00110961834246757	0.41905	2.515063	0.0623938460719152	0.42675	2.585352	0.999979264416045	0.50053	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.18	4.04	0.46262	0.274000	0.18443	2.101000	0.30604	-0.041000	0.17446	0.466000	0.26691	0.702000	0.26239	0.229000	0.22707	0.8992:0.0:0.1008:0.0	6.889	0.23401	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	819.43	35	chr7	149725329	.	A	G	819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.176;DP=377;ExcessHet=0;FS=2.002;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.3;SOR=1.015	GT:AD:DP:GQ:PL	0/1:35,34:69:99:831,0,918	9	0	1	0
chr8	2085363	2085363	G	C	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon14:c.G1617C:p.K539N	.	436	1067	18	1	0	20	0.00928505	.	.	.	3216596	MYOM2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.080	0.0241659818376	0.0022	0.00179712	0.0028	0.0002	0.0020	0	0.0019	0.0036	0.0034	0.0035	0.0027037	418	154602	rs137923713	0.0029	0.0029	0.0029	0.0029	0.0132	0.0029	0.0028	0.0108	0.0099	0.0007	0.0024	3.826e-05	0	0.0030	0.0132	0.0031	0.0033	0.0037	0.0025	0.0025	0.0024	0.0025	0.0037	0.0023	0.0022	0.0031	0.0030	0.0006	0.0088	0.0027	0.0003	0.0004	0.0029	0.0136	0.0035	0.0043	0.0037	0.032	0.44694	D	0.112	0.37037	T	.	.	.	.	.	.	0.005828	0.32475	N	0.294315	0.968646	0.81001	D	.	.	.	0.63	0.53088	T	-1.33	0.33197	N	0.584	0.60495	-1.0105	0.26760	T	0.086	0.33298	T	10	0.012243539	0.00264	T	0.024166	0.47155	T	0.080	0.23350	0.474	0.55020	0.712770418609	0.71025	0.5107287513007086	0.50994	0.0278151165772	0.02851	0.432543307543	0.29556	T	.	.	.	-0.535084	0.00358	T	-0.54286	0.18016	T	0.0275743834854516	0.01626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.65252	A	.	.	2.325149	0.29777	18.23	0.99417749304955194	0.63597	0.89452	0.49926	D	AEFDBI	0.426587	0.49088	N	-0.279700014692529	0.29933	1.66441	-0.15768430371848	0.33113	1.890835	0.969717760086207	0.29150	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	3.95	0.44952	1.285000	0.32866	3.765000	0.39732	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.2764:0.0:0.7236:0.0	9.066	0.35628	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.010101	0.021739	0.023392	0.050000	0.008621	0.009146	0.011364	0.05	1486.43	37	chr8	2085363	.	G	C	1486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=467;ExcessHet=0;FS=2.892;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.909;SOR=0.937	GT:AD:DP:GQ:PL	0/1:86,66:152:99:1498,0,2021	9	0	1	0
chr8	6439052	6439052	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172574:exon6:c.G536A:p.R179K,MCPH1:NM_001322042:exon6:c.G536A:p.R179K,MCPH1:NM_001322043:exon6:c.G530A:p.R177K,MCPH1:NM_001322045:exon6:c.G434A:p.R145K,MCPH1:NM_001363979:exon6:c.G536A:p.R179K,MCPH1:NM_001363980:exon6:c.G536A:p.R179K,MCPH1:NM_024596:exon6:c.G536A:p.R179K	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	67.43	39	chr8	6439052	.	G	A	67.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.19;DP=418;ExcessHet=0;FS=39.203;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=-0.826;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,13:68:79:0|1:6439052_G_A:79,0,1933:6439052	9	0	1	0
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	7877.1	171	chr8	10609948	.	C	T	7877.1	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.09;DP=2037;ExcessHet=4.5998;FS=302.386;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.66;ReadPosRankSum=1.74;SOR=12.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,81:235:99:0|1:10609947_C_G:714,0,4349:10609947	3	0	3	4
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	not_specified|not_provided|Occult_macular_dystrophy	MedGen:CN169374|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	.	.	.	.	.	.	.	.	0.113	.	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	0.003564	0.000000	0.004121	0.005882	0.000000	0.008929	0.003125	0.007634	0.05	1209.43	38	chr8	10611454	.	G	A	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.402;DP=453;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.092;SOR=0.716	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1221,0,768	9	0	1	0
chr8	10730330	10730330	G	A	exonic	SOX7	.	nonsynonymous SNV	SOX7:NM_031439:exon1:c.C104T:p.P35L	.	4	1510	8	0	0	8	0.00264201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.985306910318	.	.	4.701e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs752164129	1.976e-05	2.394e-05	7.024e-06	3.263e-05	0.0003	1.371e-05	1.18e-05	0.0002	0.0002	0	0	0	0	0	0	9.146e-07	1.71e-05	0.0003	6.579e-06	6.563e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.072	0.34982	T	0.088	0.40586	T	0.045	0.21781	B	0.021	0.19346	B	0.003229	0.35241	U	0.278361	0.999973	0.81001	D	0	0.06538	N	-5.08	0.98667	D	-2.71	0.57762	D	0.21	0.23380	0.631	0.92308	D	0.836	0.94510	D	10	0.20234874	0.36351	T	0.985307	0.99932	D	0.308	0.62947	0.212	0.13066	0.874586488965	0.87336	0.4649483105598523	0.46413	0.155294145454	0.17530	0.845745682716	0.88971	D	0.126432	0.45281	T	-0.156958	0.27228	T	-0.173092	0.57160	T	0.107956772977606	0.13209	T	.	.	.	0.09572799	0.22535	0.21197492	0.45648	0.09572799	0.22535	0.21197492	0.45647	-4.512	0.31045	T	.	.	0.066	0.02065	B	.	.	3.000644	0.40094	21.1	0.95019974083693748	0.26002	0.20029	0.20888	N	ALL	0.177958	0.30522	N	-0.803475372671273	0.13221	0.6497995	-0.790380352866837	0.14731	0.7712318	0.999999999990482	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.372554	0.06265	0	.	.	3.47	3.47	0.38831	2.330000	0.43544	6.217000	0.55081	0.584000	0.30380	0.046000	0.21249	1.000000	0.68203	0.132000	0.19645	0.0:0.0:1.0:0.0	11.803	0.51413	764	0.49969	.	.	.	.	.	.	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	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1141.43	33	chr8	10730330	.	G	A	1141.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=407;ExcessHet=0;FS=3.006;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.699;SOR=0.674	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1153,0,793	9	0	1	0
chr8	12137493	12137493	C	T	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G1268A:p.R423H	.	512	1006	3	1	0	5	0.00247893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00280428321346	.	0.000599042	0.0003	0.0004	9.27e-05	0.0001	0	0.0003	0	0.0006	0.0001153	3	26028	rs140365730	0.0002	0.0003	0.0002	0.0002	0.0012	0.0002	0.0002	0.0007	0.0006	0.0004	0.0001	0.0026	0.0009	5.949e-05	0.0012	9.625e-05	0.0005	0.0007	0.0003	0.0004	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0003	0.0006	0	0.0003	0.0021	0.0005	0.0002	0	0.0002	0.0005	0.0002	1.0	0.00964	T	0.923	0.02845	T	0.0	0.02946	B	0.001	0.04355	B	0.191176	0.03251	N	1.842890	1	0.08975	N	0.295	0.10161	N	2.77	0.11407	T	3.23	0.00112	N	0.069	0.04188	-0.9788	0.35277	T	0.002	0.00615	T	9	0.0061574876	0.00139	T	0.002804	0.05840	T	0.068	0.19811	.	.	0.0297737177859	0.01360	0.04018550354600006	0.03964	0.460280711038	0.45581	0.515350341797	0.40973	T	0.001033	0.00564	T	-0.640622	0.00083	T	-0.865837	0.00783	T	0.00461744094989922	0.00049	T	0.554844	0.19218	T	0.017871732	0.00311	0.023883972	0.00402	0.017871732	0.00311	0.023883972	0.00402	-4.156	0.26112	T	.	.	0.061	0.01179	B	.	.	0.349493	0.07226	3.823	0.50639961348687701	0.04420	0.00014	0.00181	N	AEFBI	0.013902	0.00201	N	-2.26530142109739	0.00055	0.002339179	-2.38722876498418	0.00042	0.001846838	0.00398406652623209	0.10368	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	-1.49	0.08259	-1.872000	0.01730	-4.654000	0.02049	-2.079000	0.00404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2364:0.2198:0.2363:0.3075	0.079	0.00027	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002887	0.000000	0.000000	0.018182	0.000000	0.000000	0.003448	0.000000	0.05556	2200.08	352	chr8	12137493	.	C	T	2200.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.16;DP=2467;ExcessHet=0;FS=3.582;MLEAC=1;MLEAF=0.056;MQ=51.96;MQRankSum=-11.74;QD=13.42;ReadPosRankSum=-0.93;SOR=0.968	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2211,0,2158	8	0	1	1
chr8	24487298	24487298	G	A	exonic	ADAM7	.	nonsynonymous SNV	ADAM7:NM_003817:exon11:c.G1072A:p.V358M	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	.	0.0021	0.00339457	0.0035	0.0010	0.0009	0.0001	0	0.0021	0.0090	0.0156	0.0032082	496	154602	rs146451180	0.0022	0.0022	0.0018	0.0027	0.0147	0.0022	0.0021	0.0140	0.0137	0.0006	0.0009	0.0167	5.047e-05	0.0001	0.0049	0.0011	0.0030	0.0147	0.0018	0.0018	0.0019	0.0018	0.0116	0.0016	0.0016	0.0092	0.0083	0.0004	0.0241	0.0014	0.0164	0	9.423e-05	0	0.0015	0.0009	0.0116	0.001	0.78490	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.000116	0.50451	D	0.000000	0.686517	0.33284	D	2.76	0.80626	M	1.2	0.37405	T	-2.62	0.56301	D	0.556	0.59053	-0.4504	0.70387	T	0.209	0.56919	T	10	0.02094379	0.00491	T	.	.	.	0.375	0.69358	.	.	0.499600832404	0.49597	0.568154708648565	0.56743	0.326478743079	0.34795	0.443017482758	0.30989	T	0.150486	0.53808	T	-0.275253	0.11178	T	-0.155834	0.58725	T	0.0421441278106139	0.04081	T	0.825817	0.49436	T	0.4280553	0.62625	0.4565036	0.68410	0.4280553	0.62625	0.4565036	0.68411	-7.13	0.54977	T	.	.	0.522	0.65572	A	.;.;.	.;.;.	4.097909	0.61082	24.3	0.99839643137124845	0.92057	0.68716	0.33908	D	AEFBI	0.221389	0.34602	N	0.565985022323194	0.71060	5.593979	0.476841170874036	0.66459	4.95475	0.00263009463315016	0.09584	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	2.952000	0.48790	6.057000	0.53139	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.733000	0.35199	0.0973:0.0:0.9027:0.0	9.477	0.38040	866	0.32446	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.000000	0.002924	0.000000	0.017241	0.024390	0.007576	0.05	1639.43	33	chr8	24487298	.	G	A	1639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=435;ExcessHet=0;FS=3.234;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-1.326;SOR=1.046	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1651,0,1350	9	0	1	0
chr8	27289271	27289271	G	A	exonic	TRIM35	.	nonsynonymous SNV	TRIM35:NM_001304495:exon3:c.C676T:p.H226Y,TRIM35:NM_001362813:exon4:c.C772T:p.H258Y	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0197493238184	0.0005	0.000798722	0.0001	0.0012	8.676e-05	0	0	6.007e-05	0	0	0.0001682	26	154602	rs112470372	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	9.569e-05	0.0018	0.0016	0.0022	8.946e-05	0	0	0	0.0007	6.476e-05	0.0003	0	0.0007	0.0007	0.0007	0.0006	0.0021	0.0006	0.0005	0.0017	0.0016	0.0021	0	0.0004	0	0	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.021	0.58089	D	0.013	0.16609	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	.	.	.	-0.13	0.64818	T	0.43	0.03297	N	0.32	0.36043	-0.9432	0.42105	T	0.165	0.50340	T	8	0.01551643	0.00326	T	0.019749	0.42191	T	0.040	0.10527	.	.	0.661975707287	0.65914	.	.	.	.	.	.	.	0.007717	0.07108	T	-0.215641	0.18591	T	-0.088387	0.64283	T	0.211772441864014	0.21046	T	0.352165	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24733	B	.	.	0.680609	0.10493	7.206	0.98198645318278277	0.39097	0.92481	0.55812	D	AEFDBI	0.034371	0.04245	N	-0.104113181267482	0.37213	2.161838	0.0632015068175121	0.42715	2.588455	0.997167364875065	0.35335	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	5.07	0.68106	1.130000	0.31007	0.899000	0.22534	-0.113000	0.14837	1.000000	0.71638	0.999000	0.35428	0.481000	0.28588	0.0856:0.0:0.9144:0.0	10.984	0.46727	626	0.65439	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.015152	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1215.43	36	chr8	27289271	.	G	A	1215.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=407;ExcessHet=0;FS=2.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.324;SOR=1.092	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1227,0,1037	9	0	1	0
chr8	27463370	27463370	C	A	exonic	CHRNA2	.	nonsynonymous SNV	CHRNA2:NM_000742:exon6:c.G1073T:p.S358I,CHRNA2:NM_001282455:exon6:c.G1028T:p.S343I,CHRNA2:NM_001347705:exon6:c.G596T:p.S199I,CHRNA2:NM_001347706:exon6:c.G596T:p.S199I,CHRNA2:NM_001347708:exon6:c.G479T:p.S160I,CHRNA2:NM_001347707:exon7:c.G479T:p.S160I	Epilepsy, nocturnal frontal lobe, type 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	202235	Autosomal_dominant_nocturnal_frontal_lobe_epilepsy|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_4|not_specified|not_provided	MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784|MONDO:MONDO:0012474,MedGen:C1835905,OMIM:610353,Orphanet:98784|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.546	0.140698798942	.	.	9.095e-05	0	8.66e-05	0.0002	0	0	0	0.0005	7.12e-05	11	154602	rs74341575	4.378e-05	4.378e-05	2.723e-05	6.051e-05	0.0006	3.509e-05	3.193e-05	0.0004	0.0003	0	0	0	0.0006	0	0	5.396e-06	8.279e-05	0.0003	5.911e-05	5.906e-05	6.425e-05	5.373e-05	0.0006	3.076e-05	2.209e-05	0.0002	8.414e-05	0	0	0	0	0.0006	0	0	5.881e-05	0	0.0004	0.004	0.65419	D	0.009	0.66756	D	0.452	0.36118	B	0.679	0.53442	P	0.000276	0.46590	D	0.295319	0.999549	0.48716	D	3.29	0.90338	M	-2.12	0.86283	D	-3.61	0.71042	D	0.363	0.41360	0.676	0.92869	D	0.778	0.92467	D	10	0.3054665	0.48063	T	0.140699	0.82314	D	0.546	0.81135	0.441	0.49648	0.915446317744	0.91459	0.557376161287237	0.55664	0.676354662105	0.59757	0.458120107651	0.33052	T	0.775888	0.94040	D	-0.188186	0.22526	T	-0.178092	0.56698	T	0.760027408599854	0.43853	D	0.80432	0.45191	T	0.64379066	0.75033	0.407507	0.65094	0.64379066	0.75034	0.407507	0.65094	-6.466	0.50831	T	0.2759916395233664	0.37049	0.199	0.42273	B	.;.;.	.;.;.	3.796277	0.54670	23.5	0.99561516196764821	0.71831	0.88285	0.48144	D	AEFDGBCI	0.649465	0.62392	D	0.403156937879858	0.61596	4.362826	0.378582132755272	0.60247	4.210119	0.999976566316178	0.50053	0.497415	0.19182	0	0.514364	0.08380	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.88	4.0	0.45673	4.075000	0.57305	3.973000	0.40841	0.520000	0.23804	0.999000	0.42656	0.999000	0.35428	0.996000	0.76049	0.0:0.9091:0.0:0.0909	11.046	0.47074	873	0.30802	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3416.43	34	chr8	27463370	.	C	A	3416.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.799;DP=600;ExcessHet=0;FS=1.451;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.574;SOR=0.787	GT:AD:DP:GQ:PL	0/1:141,132:273:99:3428,0,3711	9	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.15	89.54	88	chr8	28780872	.	G	C	89.54	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.73;DP=850;ExcessHet=0.7463;FS=181.973;InbreedingCoeff=-0.1741;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=-0.401;SOR=10.087	GT:AD:DP:GQ:PL	0/1:79,21:100:62:62,0,1708	7	0	3	0
chr8	36784411	36784411	A	G	exonic	KCNU1	.	startloss	KCNU1:NM_001031836:exon1:c.A1G:p.M1?	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0111058070805	.	.	0.0001	0	0	0	0	0.0002	0.0024	0	0.0001358	21	154602	rs749840726	9.468e-05	9.508e-05	0.0001	8.691e-05	0.0044	8.159e-05	7.673e-05	0.0030	0.0026	0.0004	0.0001	3.877e-05	0	0	0.0044	6.397e-05	0.0003	1.17e-05	5.253e-05	5.249e-05	6.424e-05	4.028e-05	0.0001	2.555e-05	1.829e-05	2.258e-05	1.124e-05	2.406e-05	0	0.0001	0	0	0	0	5.88e-05	0.0005	0	0.0	0.91255	D	0.036	0.53788	D	0.012	0.16265	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	1.61	0.29602	T	-0.26	0.11185	N	0.685	0.69125	-1.0100	0.26917	T	0.043	0.18618	T	8	0.71629184	0.73368	D	0.011106	0.28394	T	0.133	0.36157	0.993	0.99924	0.0806252709748	0.07271	0.20416310490336134	0.20333	.	.	.	.	.	0.026372	0.19532	T	-0.319587	0.06931	T	-0.448532	0.27859	T	0.0338731269762229	0.02616	T	0.9	0.65058	D	0.6839701	0.77184	0.48015052	0.69892	0.6839701	0.77185	0.48015052	0.69893	-4.734	0.33813	T	.	.	.	.	.	.;.	.;.	-0.050635	0.03947	0.880	0.40592716686731639	0.02874	0.01829	0.05679	N	AEFGI	0.013110	0.00163	N	-1.41519308192003	0.02505	0.1107038	-1.56715217575407	0.01860	0.08479596	1.09794275123649E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.884	-1.77	0.07551	0.504000	0.22335	2.990000	0.35877	-0.089000	0.16174	0.018000	0.19461	0.974000	0.29927	0.002000	0.04165	0.4211:0.0:0.2555:0.3234	1.417	0.02164	745	0.52414	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.017544	0.000000	0.000000	0.000000	0.000000	0.05	1260.43	35	chr8	36784411	.	A	G	1260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.311;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-1.116;SOR=0.754	GT:AD:DP:GQ:PL	0/1:75,58:133:99:1272,0,2025	9	0	1	0
chr8	54022107	54022107	G	A	exonic	TCEA1	.	nonsynonymous SNV	TCEA1:NM_006756:exon1:c.C19T:p.R7C,TCEA1:NM_201437:exon1:c.C19T:p.R7C	.	383	1138	1	0	0	1	0.000439174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.297243364303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.975	0.73362	D	0.002990	0.35606	U	0.224693	0.999713	0.49283	D	3.065	0.87014	M	.	.	.	-3.79	0.88904	D	0.626	0.76388	0.080	0.83803	D	0.472	0.79695	T	9	0.8465647	0.83823	D	0.297243	0.90763	D	0.402	0.71558	0.65	0.78753	0.716214108461	0.71372	0.30869752647157755	0.30782	1.52884758063	0.87551	0.878962993622	0.93820	D	0.367644	0.73268	T	0.249274	0.78534	D	0.120289	0.78255	D	0.995221436023712	0.87048	D	0.942906	0.83996	D	0.29947707	0.52858	0.19575046	0.43268	0.29947707	0.52858	0.19575046	0.43268	-4.295	0.73546	T	.	.	0.682	0.77831	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.640909	0.73888	26.1	0.99852620180704255	0.93191	0.65255	0.32676	D	AEFDGBCI	0.442560	0.50023	N	0.682663270292309	0.78499	6.883517	0.639651928388423	0.77841	6.757891	0.999999999890047	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.85	4.85	0.62375	4.649000	0.61129	11.010000	0.84848	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.195000	0.21750	0.0:0.0:1.0:0.0	13.467	0.60716	912	0.21483	.;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;.;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal;Transcription factor IIS, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1892.43	33	chr8	54022107	.	G	A	1892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.858;DP=504;ExcessHet=0;FS=0.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.83;MQRankSum=0.509;QD=10.46;ReadPosRankSum=-1.015;SOR=0.782	GT:AD:DP:GQ:PL	0/1:94,87:181:99:1904,0,2015	9	0	1	0
chr8	76855923	76855923	G	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.G9002T:p.G3001V	.	0	1515	6	1	0	8	0.00263331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0189141440889	.	.	0.0002	0	0	0	0	0.0002	0	0.0002	0.0001358	21	154602	rs775483953	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.987e-05	8.945e-05	0	0	0	0.0016	0.0001	0.0003	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	8.163e-05	6.72e-05	0.0001	8.276e-05	0	0	0.0003	0	0	0	0	0.0002	0.0005	0.0004	0.133	0.26965	T	0.02	0.58613	D	.	.	.	.	.	.	0.000545	0.43413	U	0.000000	0.999999	0.58761	D	.	.	.	0.76	0.49919	T	-3.4	0.67014	D	0.812	0.83885	-0.8487	0.52058	T	0.188	0.53856	T	10	0.57749903	0.65662	D	0.018914	0.41124	T	0.116	0.32463	.	.	0.151262610727	0.14761	0.3314716088228594	0.33060	0.745215368808	0.63480	0.629379987717	0.57057	T	.	.	.	-0.252592	0.13783	T	-0.304415	0.44256	T	0.0403428257376543	0.03752	T	0.909009	0.75832	D	.	.	.	.	.	.	.	.	-10.121	0.74633	D	.	.	.	.	.	.;.	.;.	4.144916	0.62127	24.4	0.98160377569070678	0.38764	0.90834	0.52348	D	AEFGBCI	0.600726	0.59325	D	0.138983390260452	0.48291	3.043211	0.224317805746591	0.51200	3.304621	0.999999749683575	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.17	5.17	0.70848	5.250000	0.65252	11.936000	0.99985	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.345000	0.25546	0.0:0.1405:0.8595:0.0	15.254	0.73267	793	0.45818	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1958.43	36	chr8	76855923	.	G	T	1958.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.131;DP=602;ExcessHet=0;FS=4.466;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.212;SOR=0.491	GT:AD:DP:GQ:PL	0/1:88,81:169:99:1970,0,2364	9	0	1	0
chr8	86743498	86743498	C	T	splicing	CNGB3	NM_019098:exon1:c.129+1G>A	.	.	Achromatopsia 3, Autosomal recessive;Macular degeneration, juvenile, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.904	YES	2905097	not_provided|Achromatopsia_3	MedGen:C3661900|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300,Orphanet:49382	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs770096659	1.368e-06	1.368e-06	1.361e-06	1.375e-06	5.041e-05	2.3e-07	9e-08	8.35e-06	3.12e-06	0	0	0	5.041e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467878	0.93251	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.662650	0.74439	26.2	0.99034639283062742	0.50873	0.94087	0.60073	D	AEFBI	.	.	.	0.971340833229081	0.94793	13.045	0.794744481386353	0.89424	9.969844	0.901924456256422	0.26113	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.961152	0.65875	5.96	5.96	0.96695	2.984000	0.49043	4.678000	0.44308	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	17.152	0.86659	.	.	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1098.43	35	chr8	86743498	.	C	T	1098.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.627;SOR=0.627	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1110,0,1098	9	0	1	0
chr8	102828622	102828624	AAG	-	exonic	AZIN1	.	nonframeshift deletion	AZIN1:NM_001363010:exon12:c.1287_1289del:p.F430del,AZIN1:NM_001363013:exon12:c.789_791del:p.F264del,AZIN1:NM_148174:exon12:c.1290_1292del:p.F431del,AZIN1:NM_001363011:exon13:c.1287_1289del:p.F430del,AZIN1:NM_001363012:exon13:c.1287_1289del:p.F430del,AZIN1:NM_001363014:exon13:c.789_791del:p.F264del,AZIN1:NM_001363024:exon13:c.1290_1292del:p.F431del,AZIN1:NM_001363083:exon13:c.1290_1292del:p.F431del,AZIN1:NM_015878:exon13:c.1290_1292del:p.F431del	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0001	9.879e-05	8.883e-05	0	0	0.0001	0	0.0001	9.06e-05	14	154602	rs766817320	0.0001	0.0001	8.995e-05	0.0001	0.0003	8.861e-05	8.345e-05	9.801e-05	8.946e-05	5.981e-05	0	3.835e-05	2.522e-05	0	0.0003	0.0001	8.296e-05	0.0002	6.562e-05	6.561e-05	5.137e-05	8.051e-05	0.0001	3.512e-05	2.613e-05	6.804e-05	5.087e-05	2.404e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1460.39	34	chr8	102828621	.	AAAG	A	1460.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.41;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=0.856;SOR=0.661	GT:AD:DP:GQ:PL	0/1:41,38:79:99:1472,0,1578	9	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	517.53	161	chr8	132010871	.	G	C	517.53	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.686;DP=1526;ExcessHet=0.7463;FS=211.335;InbreedingCoeff=-0.1791;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.715;SOR=11.704	GT:AD:DP:GQ:PL	0/1:112,45:165:99:103,0,1766	7	0	3	0
chr8	143868628	143868628	C	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G4626T:p.K1542N	.	6	1490	25	1	0	27	0.00897905	.	.	.	2828627	EPPK1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.014127203922	0.0056	0.00199681	0.0069	0.0011	0.0024	0	0.0011	0.0092	0.0075	0.0080	0.0040103	620	154602	rs142520085	0.0060	0.0059	0.0059	0.0060	0.0106	0.0058	0.0058	0.0085	0.0077	0.0011	0.0028	0.0101	0	0.0006	0.0106	0.0065	0.0051	0.0069	0.0038	0.0038	0.0041	0.0036	0.0062	0.0036	0.0035	0.0054	0.0052	0.0012	0	0.0035	0.0092	0	0.0006	0.0068	0.0059	0.0061	0.0062	.	.	.	0.075	0.42794	T	.	.	.	.	.	.	.	.	.	.	0.997536	0.22619	N	1.32	0.33002	L	.	.	.	.	.	.	0.112	0.10911	-1.0270	0.21429	T	0.114	0.40582	T	9	0.004077077	0.00080	T	0.014127	0.34038	T	.	.	0.372	0.38340	0.281381271821	0.27740	0.3891870470861689	0.38833	.	.	0.291262388229	0.09107	T	0.099349	0.40408	T	-0.578915	0.00196	T	-0.599923	0.12817	T	0.00858199139413536	0.00105	T	0.360864	0.08314	T	0.17752025	0.38722	0.14357136	0.34115	0.17752025	0.38722	0.14357136	0.34114	-5.737	0.44022	T	.	.	0.258	0.49275	B	.;.	.;.	2.820678	0.37159	20.4	0.99096452317211847	0.52346	0.36982	0.25658	N	AEFBCI	0.303024	0.41111	N	-0.66727533020093	0.16958	0.8686102	-0.618272603268133	0.19023	1.018887	0.997830648112887	0.36087	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.41	3.44	0.38486	0.027000	0.13512	.	.	0.549000	0.26987	0.508000	0.27017	0.000000	0.08366	0.429000	0.27427	0.0:0.8819:0.0:0.1181	9.149	0.36112	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006572	0.000000	0.005464	0.008772	0.000000	0.000000	0.006211	0.011364	0.05	1482.43	75	chr8	143868628	.	C	A	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.737;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.134;SOR=0.697	GT:AD:DP:GQ:PL	0/1:57,55:112:99:1494,0,1432	9	0	1	0
chr9	13176361	13176361	T	A	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon20:c.A2706T:p.E902D,MPDZ:NM_001261407:exon20:c.A2706T:p.E902D,MPDZ:NM_001330637:exon20:c.A2706T:p.E902D,MPDZ:NM_001375413:exon20:c.A2706T:p.E902D,MPDZ:NM_001375416:exon20:c.A2706T:p.E902D,MPDZ:NM_001375417:exon20:c.A2706T:p.E902D,MPDZ:NM_001375419:exon20:c.A2706T:p.E902D,MPDZ:NM_001375420:exon20:c.A2706T:p.E902D,MPDZ:NM_001375422:exon20:c.A2706T:p.E902D,MPDZ:NM_001375424:exon20:c.A2706T:p.E902D,MPDZ:NM_001375425:exon20:c.A2706T:p.E902D,MPDZ:NM_001375426:exon20:c.A2706T:p.E902D,MPDZ:NM_001375427:exon20:c.A2706T:p.E902D,MPDZ:NM_001378778:exon20:c.A2706T:p.E902D,MPDZ:NM_003829:exon20:c.A2706T:p.E902D,MPDZ:NM_001375418:exon21:c.A2706T:p.E902D,MPDZ:NM_001375421:exon21:c.A2706T:p.E902D,MPDZ:NM_001375423:exon21:c.A2706T:p.E902D	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	429	1086	6	1	0	8	0.00366972	.	.	.	1558878	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.00596455195966	.	.	0.0002	0	0	0	0	0.0001	0	0.0009	0.00011	17	154602	rs759673011	5.708e-05	5.746e-05	4.1e-05	7.337e-05	0.0017	4.701e-05	4.324e-05	0.0009	0.0007	0	0.0002	3.858e-05	0	0	0.0017	9.026e-06	0.0002	0.0005	5.909e-05	5.905e-05	2.569e-05	9.403e-05	0.0004	3.075e-05	2.209e-05	7.293e-05	3.03e-05	0	0	0.0001	0	0	0	0	5.882e-05	0.0005	0.0004	0.256	0.17014	T	0.562	0.11479	T	0.001	0.07471	B	0.005	0.11217	B	0.049613	0.23145	N	0.306654	0.999985	0.18198	N	0.755	0.19153	N	2.82	0.11407	T	-0.71	0.20145	N	0.068	0.10626	-0.9953	0.31218	T	0.010	0.03811	T	10	0.020094454	0.00458	T	0.005965	0.15549	T	0.019	0.03383	0.294	0.25720	0.154104182512	0.14974	0.255744139467749	0.25488	.	.	0.360552638769	0.19466	T	0.035377	0.23695	T	-0.556551	0.00266	T	-0.66017	0.08255	T	0.0170172369605473	0.00450	T	0.788921	0.42853	T	0.06587644	0.14122	0.045526914	0.06144	0.049819794	0.08905	0.04392812	0.05578	-3.5	0.17067	T	.	.	0.093	0.31177	B	.;.;.;.;.;.	.;.;.;.;.;.	1.412404	0.18282	13.65	0.77058350229666039	0.11719	0.27384	0.23262	N	AEFBCI	0.052046	0.09251	N	-0.763136868338022	0.14279	0.7099809	-0.642898371349318	0.18397	0.982544	0.805326655034651	0.24259	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.78	-1.9	0.07248	0.204000	0.17133	-1.003000	0.06640	0.665000	0.62972	0.802000	0.29747	0.002000	0.18203	0.977000	0.56843	0.1933:0.4021:0.1105:0.2941	2.154	0.03574	592	0.68746	.;.;.;.;.;.	.	.	.	.	.	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	0.001512	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	726.43	41	chr9	13176361	.	T	A	726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.431;DP=412;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.76;SOR=0.882	GT:AD:DP:GQ:PL	0/1:40,31:71:99:738,0,968	9	0	1	0
chr9	14532015	14532015	C	T	exonic	NFIB	.	nonsynonymous SNV	NFIB:NM_001369458:exon1:c.G28A:p.G10R,NFIB:NM_001369459:exon1:c.G28A:p.G10R,NFIB:NM_001369462:exon1:c.G28A:p.G10R,NFIB:NM_001369468:exon1:c.G28A:p.G10R	.	1122	399	1	0	0	1	0.00125156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.272e-05	0	0	.	0	0	.	.	0	.	0	.	0	0	0	0	0	6.57e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	39.43	12	chr9	14532015	.	C	T	39.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=144;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.939;SOR=1.093	GT:AD:DP:GQ:PL	0/1:11,3:14:51:51,0,247	9	0	1	0
chr9	18622276	18622276	G	A	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon5:c.G508A:p.V170I,ADAMTSL1:NM_052866:exon5:c.G508A:p.V170I	.	430	1071	20	1	0	22	0.0101664	.	.	.	3208148	ADAMTSL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.00558072628727	0.0019	0.00219649	0.0029	0.0004	0.0029	0.0001	0.0035	0.0032	0.0044	0.0048	0.0027619	427	154602	rs146511703	0.0024	0.0024	0.0023	0.0026	0.0120	0.0024	0.0023	0.0097	0.0089	0.0004	0.0025	0.0007	7.559e-05	0.0018	0.0120	0.0024	0.0023	0.0051	0.0022	0.0022	0.0021	0.0023	0.0048	0.0020	0.0019	0.0033	0.0028	0.0004	0	0.0028	0.0009	0	0.0022	0.0204	0.0031	0.0019	0.0048	0.12	0.31987	T	0.083	0.41405	T	0.001	0.13644	B	0.0	0.10090	B	.	.	.	.	0.976175	0.26481	N	1.095	0.27400	L	-0.31	0.68030	T	-0.72	0.25770	N	0.168	0.24883	-0.9663	0.37954	T	0.127	0.43380	T	9	0.0058428645	0.00130	T	0.005581	0.14409	T	0.092	0.26621	.	.	0.459818148978	0.45609	0.15861690945872592	0.15782	0.0558040157175	0.06170	0.31782501936	0.13091	T	0.035502	0.23742	T	-0.507669	0.00517	T	-0.501467	0.22195	T	0.0204572970002746	0.00745	T	0.790821	0.43180	T	0.042745262	0.06540	0.07514392	0.16512	0.042745262	0.06540	0.07514392	0.16511	-6.548	0.52238	T	.	.	0.083	0.09723	B	.;.;.;.;.	.;.;.;.;.	2.315542	0.29649	18.19	0.99393732674537361	0.62474	0.89029	0.49255	D	AEFBHCI	0.442653	0.50029	N	-0.253459625366045	0.30965	1.73169	-0.0887941676486003	0.35853	2.079185	0.999996183082164	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.63	2.68	0.30839	4.871000	0.62737	1.839000	0.29174	0.676000	0.76740	1.000000	0.71638	0.946000	0.28899	0.998000	0.85391	0.0795:0.0:0.9205:0.0	14.571	0.67803	912	0.21483	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.010101	0.010870	0.011696	0.000000	0.000000	0.006098	0.003788	0.05	1712.43	34	chr9	18622276	.	G	A	1712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=480;ExcessHet=0;FS=2.861;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.4;SOR=0.936	GT:AD:DP:GQ:PL	0/1:88,71:159:99:1724,0,1975	9	0	1	0
chr9	20764921	20764921	T	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375570:exon6:c.T442G:p.C148G,FOCAD:NM_001375567:exon7:c.T547G:p.C183G,FOCAD:NM_001375568:exon7:c.T547G:p.C183G,FOCAD:NM_017794:exon9:c.T547G:p.C183G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.0266338301074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.7	0.12162	T	-5.63	0.86836	D	0.93	0.93487	-1.1319	0.01693	T	0.071	0.29001	T	10	0.79199314	0.78741	D	0.026634	0.49530	D	0.470	0.76421	0.605	0.73706	0.28058544554	0.27657	0.7041265014937579	0.70354	0.0259599044008	0.02653	0.624525547028	0.56368	T	.	.	.	0.20107	0.73992	D	0.051046	0.73654	D	0.96525651216507	0.67210	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.55152	B	.;.	.;.	4.569675	0.72080	25.8	0.98651290616969223	0.44192	0.96348	0.68700	D	AEFGBI	0.719497	0.67036	D	0.631674295644862	0.75189	6.261986	0.665250591126852	0.79751	7.149007	0.999999624937441	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	5.505000	0.66698	7.916000	0.74276	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.143	0.81351	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2225.43	46	chr9	20764921	.	T	G	2225.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.521;DP=623;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.121;SOR=0.696	GT:AD:DP:GQ:PL	0/1:104,90:194:99:2237,0,2605	9	0	1	0
chr9	21216762	21216762	G	T	exonic	IFNA16	.	nonsynonymous SNV	IFNA16:NM_002173:exon1:c.C544A:p.Q182K	.	423	1097	2	0	0	2	0.000910747	.	.	.	2336903	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00364394466413	.	0.000199681	0.0003	0	8.637e-05	0.0003	0	8.994e-05	0.0011	0.0013	6.5e-06	1	154602	rs555988465	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0009	0.0008	0	9.29e-05	7.671e-05	0.0003	0	0.0012	0.0001	8.312e-05	0.0010	0.0001	0.0001	9.007e-05	0.0002	0.0012	9.159e-05	7.713e-05	0.0005	0.0004	0	0	0.0005	0	0.0004	0	0	8.828e-05	0	0.0012	0.071	0.35165	T	0.216	0.26226	T	0.0	0.02946	B	0.004	0.10090	B	0.611755	0.05705	N	1.239000	1	0.08975	N	3.475	0.92503	M	3.87	0.03597	T	-2.28	0.50830	N	0.263	0.29774	-0.9279	0.44444	T	0.013	0.05081	T	10	0.021517932	0.00516	T	0.003644	0.08371	T	0.025	0.05312	0.585	0.71245	0.168933306366	0.16529	0.07639773314450858	0.07575	.	.	0.31700783968	0.12967	T	0.009931	0.09004	T	-0.546076	0.00308	T	-0.602728	0.12582	T	0.0541226295825188	0.06210	T	0.50025	0.15636	T	0.15532129	0.35110	0.094253875	0.22303	0.15532129	0.35110	0.094253875	0.22302	-5.297	0.39913	T	.	.	0.098	0.16054	B	.	.	0.254021	0.06330	2.791	0.7619835125547948	0.11372	0.01468	0.04899	N	AEFGBI	0.025142	0.01673	N	-1.01341536861832	0.08325	0.3899364	-1.13397065508646	0.07059	0.3419789	0.00143589638150968	0.08535	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.62	-0.858	0.10147	-0.189000	0.09625	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3743:0.0:0.4315:0.1942	2.968	0.05551	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2515.43	33	chr9	21216762	.	G	T	2515.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.606;DP=707;ExcessHet=0;FS=6.645;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.8;MQRankSum=-2.617;QD=10.7;ReadPosRankSum=0.754;SOR=1.107	GT:AD:DP:GQ:PL	0/1:135,100:235:99:2527,0,3566	9	0	1	0
chr9	32630387	32630387	T	G	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.A5193C:p.K1731N	.	1	1497	24	0	0	24	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00155385102793	0.0038	0.00279553	0.0039	0.0012	0.0040	0.0001	0.0014	0.0052	0.0033	0.0029	0.0036869	570	154602	rs34241003	0.0045	0.0045	0.0046	0.0044	0.0083	0.0044	0.0044	0.0064	0.0058	0.0012	0.0039	0.0037	5.038e-05	0.0014	0.0083	0.0050	0.0060	0.0024	0.0034	0.0035	0.0034	0.0035	0.0054	0.0032	0.0031	0.0050	0.0048	0.0008	0	0.0047	0.0023	0	0.0012	0.0272	0.0054	0.0043	0.0027	0.509	0.07521	T	0.526	0.10245	T	0.659	0.40886	P	0.775	0.57058	P	.	.	.	.	0.994189	0.23570	N	-0.345	0.03330	N	3.06	0.08634	T	-0.08	0.08187	N	0.057	0.02861	-0.9455	0.41731	T	0.012	0.04700	T	9	0.0064543188	0.00146	T	0.001554	0.02445	T	0.075	0.21907	0.134	0.03833	0.273938319068	0.27005	0.2262985417603728	0.22544	0.170945335344	0.19261	0.427423834801	0.28857	T	0.007451	0.06855	T	-0.730313	0.00024	T	-0.817815	0.01497	T	0.0428091219219601	0.04203	T	0.808619	0.45852	T	0.04694278	0.07941	0.048381474	0.07172	0.04694278	0.07941	0.048381474	0.07172	-4.377	0.29244	T	.	.	0.290	0.52152	B	.	.	2.021101	0.25683	16.85	0.97050528604221098	0.32151	0.20284	0.20983	N	AEFGBI	0.058958	0.11099	N	-0.701309791986848	0.15985	0.8104591	-0.827216638688222	0.13837	0.7199188	0.224301882724681	0.18392	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	0.95	-0.372	0.11897	-0.079000	0.11321	4.180000	0.42331	0.260000	0.18395	0.984000	0.35821	1.000000	0.68203	0.163000	0.20749	0.0:0.6443:0.0:0.3557	3.922	0.08748	837	0.37933	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.040404	0.010870	0.011696	0.050000	0.000000	0.015244	0.000000	0.05	3966.43	33	chr9	32630387	.	T	G	3966.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.958;DP=627;ExcessHet=0;FS=1.383;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.309;SOR=0.765	GT:AD:DP:GQ:PL	0/1:149,146:295:99:3978,0,3858	9	0	1	0
chr9	33933509	33933509	G	A	exonic	UBAP2	.	nonsynonymous SNV	UBAP2:NM_001370067:exon16:c.C1930T:p.P644S,UBAP2:NM_001370064:exon17:c.C1816T:p.P606S,UBAP2:NM_001370068:exon17:c.C1975T:p.P659S,UBAP2:NM_001370059:exon18:c.C2089T:p.P697S,UBAP2:NM_001370062:exon18:c.C2089T:p.P697S,UBAP2:NM_018449:exon18:c.C2089T:p.P697S,UBAP2:NM_001370066:exon19:c.C1975T:p.P659S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00920684767356	.	.	8.307e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs748790054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.624	0.07342	T	0.038	0.21002	B	0.018	0.18489	B	0.136176	0.18456	N	0.591114	0.959158	0.42773	D	1.04	0.26193	L	2.72	0.11947	T	-0.38	0.13418	N	0.207	0.22998	-1.0227	0.22834	T	0.022	0.09421	T	10	0.056187093	0.06260	T	0.009207	0.24201	T	0.029	0.06676	0.162	0.06618	0.082315109003	0.07666	0.27454698598463984	0.27367	0.065937270336	0.07352	0.346179127693	0.17358	T	0.00984	0.08928	T	-0.239374	0.15428	T	-0.581621	0.14401	T	0.113419587679526	0.13775	T	0.535446	0.17943	T	0.023461385	0.01089	0.036313135	0.03054	0.023461385	0.01088	0.036313135	0.03053	-0.542	0.00610	T	.	.	0.060	0.00904	B	.;.	.;.	2.028936	0.25788	16.89	0.61923326025492353	0.06831	0.77224	0.37946	D	AEFDBCI	0.112679	0.22262	N	-0.453212358814593	0.23631	1.270371	-0.288401299539993	0.28480	1.588256	0.999726218140238	0.42220	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.54	3.46	0.38718	1.586000	0.36221	3.294000	0.37329	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.732000	0.35165	0.337:0.0:0.663:0.0	6.238	0.19985	306	0.87689	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1418.43	34	chr9	33933509	.	G	A	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.76;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.162;SOR=0.732	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1430,0,1119	9	0	1	0
chr9	34093402	34093402	G	A	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon7:c.C908T:p.A303V	.	424	1081	16	1	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	.	0.0002	0.00399361	0.0022	0	0.0008	0	0	0.0004	0.0022	0.0139	0.001934	299	154602	rs149115505	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	5.974e-05	0.0002	3.826e-05	0	0	0.0019	0.0002	0.0011	0.0138	0.0006	0.0006	0.0003	0.0009	0.0133	0.0005	0.0005	0.0107	0.0097	4.811e-05	0	0.0005	0	0	0	0	0.0002	0	0.0133	0.007	0.59928	D	0.013	0.63109	D	0.633	0.40250	P	0.118	0.32088	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.27	0.67367	T	-2.12	0.48184	N	0.921	0.92433	-0.4600	0.70067	T	0.276	0.64814	T	10	0.012073249	0.00261	T	.	.	.	0.471	0.76487	.	.	0.810726899296	0.80895	0.6850247409028064	0.68441	1.03043029366	0.75413	0.832992434502	0.87021	D	0.209426	0.56964	T	0.00687563	0.52599	T	0.248131	0.85529	D	0.0712406606931485	0.08824	T	0.960304	0.85063	D	0.2813473	0.51177	0.2866694	0.54676	0.2813473	0.51177	0.2866694	0.54675	-8.042	0.61356	D	.	.	0.817	0.78094	P	.	.	4.493645	0.70214	25.5	0.99857932726301568	0.93639	0.99295	0.94095	D	AEFDBI	0.909636	0.86652	D	0.533704854304489	0.69097	5.308765	0.627181203696604	0.76920	6.580939	0.999999999946936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.225000	0.94383	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.868	0.88717	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.15	4120.45	36	chr9	34093402	.	G	A	4120.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.601;DP=613;ExcessHet=0.7463;FS=5.481;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.184;SOR=0.964	GT:AD:DP:GQ:PL	0/1:68,69:137:99:1750,0,1703	7	0	3	0
chr9	35563193	35563193	T	C	exonic	FAM166B	.	nonsynonymous SNV	FAM166B:NM_001099951:exon2:c.A259G:p.S87G,FAM166B:NM_001164310:exon2:c.A259G:p.S87G,FAM166B:NM_001287238:exon2:c.A259G:p.S87G,FAM166B:NM_001287239:exon2:c.A259G:p.S87G	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00313266681966	0.0009	0.000199681	0.0006	0	8.639e-05	0	0	0.0011	0	0	0.0005757	89	154602	rs200321682	0.0007	0.0007	0.0007	0.0007	0.0010	0.0007	0.0007	0.0008	0.0008	2.987e-05	0.0004	0	0	0	0.0010	0.0009	0.0005	0	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0005	0.0010	0.0010	0.0002	0	0.0007	0	0	0	0.0034	0.0012	0	0	0.118	0.28148	T	0.358	0.17064	T	0.016	0.58077	B	0.005	0.54061	B	0.264850	0.15242	U	0.470849	0.974191	0.25505	N	1.65	0.42232	L	.	.	.	-1.42	0.34992	N	0.345	0.38643	-0.9249	0.44872	T	0.170	0.51085	T	9	0.029707968	0.01097	T	0.003133	0.06815	T	0.092	0.26621	.	.	0.137902524267	0.13322	0.3612253334263521	0.36036	0.0406774102335	0.04362	0.431382954121	0.29397	T	0.001798	0.01214	T	-0.356244	0.04347	T	-0.334937	0.40917	T	0.021279248366516	0.00830	T	0.59464	0.22023	T	0.11508515	0.27161	0.11491309	0.27740	0.11508515	0.27161	0.11491309	0.27739	-3.546	0.18060	T	.	.	0.101	0.17615	B	.;.;.	.;.;.	1.476119	0.19009	14.04	0.99598526498533779	0.74042	0.64978	0.32584	D	AEFDGBCI	0.229251	0.35280	N	0.0056590018886421	0.42111	2.531277	0.0922080337460758	0.44157	2.702842	0.999999513612325	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.9	4.77	0.60425	0.719000	0.25552	0.167000	0.15474	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.699000	0.34110	0.0:0.0863:0.0:0.9137	8.564	0.32688	205	0.92010	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1992.43	38	chr9	35563193	.	T	C	1992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.373;DP=545;ExcessHet=0;FS=3.923;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.023;SOR=0.471	GT:AD:DP:GQ:PL	0/1:117,94:211:99:2004,0,3048	9	0	1	0
chr9	71704721	71704721	C	T	exonic	CEMIP2	.	nonsynonymous SNV	CEMIP2:NM_001135820:exon17:c.G2879A:p.R960Q,CEMIP2:NM_001349784:exon18:c.G1154A:p.R385Q,CEMIP2:NM_013390:exon18:c.G3068A:p.R1023Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0209424512103	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs752099941	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0002	1.237e-05	1.051e-05	1.46e-05	1.227e-05	0	0	0	0	0	0.0002	2.158e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.21224	T	0.201	0.59159	T	0.067	0.38124	B	0.011	0.28220	B	0.000091	0.51296	D	0.166597	0.997869	0.44266	D	.	.	.	-0.73	0.73100	T	-0.85	0.26843	N	0.318	0.41162	-0.8462	0.52229	T	0.174	0.51753	T	10	0.24521303	0.41766	T	0.020942	0.43628	T	0.060	0.17295	0.36	0.36385	0.584643129919	0.58136	0.684493275369764	0.68388	0.204610419644	0.22881	0.511867403984	0.40483	T	0.021049	0.20195	T	0.0668041	0.60457	T	-0.126331	0.61279	T	0.33073359111963	0.26254	T	0.919908	0.73770	D	0.086636424	0.20144	0.07840534	0.17557	0.086636424	0.20144	0.07840534	0.17556	-2.887	0.09014	T	.	.	0.089	0.32030	B	.;.;.;.;.	.;.;.;.;.	3.803952	0.54822	23.5	0.99943526411249861	0.99848	0.96135	0.67693	D	AEFGBI	0.414032	0.48346	N	-0.0418343826999746	0.39967	2.365672	0.14617251482447	0.46941	2.931876	0.999999998900425	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	3.824000	0.55423	7.690000	0.65738	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.0:0.9288:0.0:0.0712	14.792	0.69473	867	0.32089	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1875.43	35	chr9	71704721	.	C	T	1875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.002;DP=620;ExcessHet=0;FS=1.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.301;SOR=0.832	GT:AD:DP:GQ:PL	0/1:76,82:158:99:1887,0,1673	9	0	1	0
chr9	84297263	84297263	A	T	exonic	SLC28A3	.	nonsynonymous SNV	SLC28A3:NM_001199633:exon8:c.T819A:p.F273L,SLC28A3:NM_022127:exon9:c.T819A:p.F273L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.579	0.0598854769242	.	.	8.313e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs773158501	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.022	0.57587	D	0.996	0.68779	D	0.954	0.69447	D	0.000001	0.84330	D	0.057044	0.999827	0.50806	D	3.005	0.85968	M	0.89	0.45636	T	-5.68	0.87223	D	0.941	0.94786	-0.7625	0.57269	T	0.217	0.57915	T	10	0.94968724	0.94301	D	0.059885	0.67815	D	0.579	0.83024	0.843	0.94784	0.107399877778	0.10242	0.8443930943990917	0.84400	0.768364881018	0.64644	0.644263267517	0.59170	T	0.190898	0.54557	T	0.244437	0.78077	D	0.113341	0.77794	D	0.996744394302368	0.89989	D	0.920908	0.71352	D	0.9677452	0.98048	0.88251185	0.93738	0.9677452	0.98048	0.88251185	0.93739	-10.835	0.78745	D	.	.	0.958	0.87767	P	.	.	3.090708	0.41615	21.4	0.99726779001170585	0.82477	0.88690	0.48738	D	AEFDGBCIJ	0.291558	0.40265	N	0.154518670730322	0.49025	3.107687	0.0568601103987331	0.42404	2.564244	0.999992317995443	0.74766	0.446893	0.09132	0	0.468601	0.06657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.57	0.631	0.16871	1.276000	0.32760	1.127000	0.24293	-0.051000	0.17024	1.000000	0.71638	0.993000	0.31925	0.993000	0.69303	0.7246:0.0:0.2754:0.0	8.737	0.33697	884	0.28482	Concentrative nucleoside transporter N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	529.43	33	chr9	84297263	.	A	T	529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.513;SOR=0.813	GT:AD:DP:GQ:PL	0/1:41,21:62:99:541,0,1099	9	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	839.95	35	chr9	86018822	.	G	C	839.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.846;DP=779;ExcessHet=7.0302;FS=147.352;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.58;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,20:87:99:0|1:86018822_G_C:106,0,1958:86018822	3	0	7	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	7760.04	386	chr9	92080918	.	G	C	7760.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.684;DP=3889;ExcessHet=22.563;FS=438.653;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.08;SOR=14.782	GT:AD:DP:GQ:PL	0/1:219,140:381:99:661,0,3611	0	0	10	0
chr9	95249215	95249215	G	A	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon2:c.C77T:p.S26F,FANCC:NM_001243743:exon2:c.C77T:p.S26F,FANCC:NM_001243744:exon2:c.C77T:p.S26F	Fanconi anemia, complementation group C, Autosomal recessive	0	1494	27	1	0	29	0.0096122	.	.	YES	138040	Fanconi_anemia_complementation_group_C|Fanconi_anemia_complementation_group_A|Fanconi_anemia|Hereditary_cancer-predisposing_syndrome|not_provided|Malignant_tumor_of_breast|FANCC-related_disorder|not_specified	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	0.0275263375515	0.0050	0.00259585	0.0047	0.0013	0.0031	0	0.0051	0.0068	0.0022	0.0017	0.0045924	710	154602	rs1800361	0.0059	0.0059	0.0060	0.0058	0.0231	0.0058	0.0057	0.0199	0.0187	0.0017	0.0037	0.0090	0	0.0051	0.0231	0.0065	0.0059	0.0019	0.0050	0.0050	0.0050	0.0051	0.0076	0.0047	0.0046	0.0066	0.0064	0.0010	0	0.0076	0.0072	0	0.0060	0.0204	0.0071	0.0100	0.0015	0.004	0.65419	D	0.01	0.92824	D	0.998	0.77913	D	0.948	0.72692	D	0.134198	0.18525	N	0.590317	0.845679	0.35138	D	1.95	0.52479	M	0.35	0.58029	T	-3.47	0.74742	D	0.261	0.35301	-0.4889	0.69047	T	0.207	0.56526	T	10	0.010334253	0.00230	T	0.027526	0.50329	D	0.230	0.53062	.	.	0.869904421163	0.86864	0.23227214108986666	0.23142	0.361563956541	0.37815	0.37709197402	0.21843	T	0.255847	0.62669	T	-0.332421	0.05929	T	-0.244444	0.50364	T	0.0112835168787181	0.00167	T	0.882912	0.66351	D	0.19768904	0.41643	0.20177399	0.44173	0.1658343	0.36879	0.23526555	0.48765	-3.604	0.17915	T	0.6895207082579828	0.76703	0.217	0.51600	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.274750	0.65067	24.8	0.99773894073725566	0.86174	0.88065	0.47833	D	AEFBI	0.278631	0.39287	N	0.561067129567012	0.70757	5.548846	0.526296077947164	0.69767	5.407329	0.819349698334001	0.24496	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.13	4.22	0.49153	3.985000	0.56640	6.910000	0.56896	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0741:0.1439:0.782:0.0	9.548	0.38458	184	0.92813	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.020141	0.020202	0.024457	0.035088	0.000000	0.025862	0.003049	0.007576	0.1	1512.14	33	chr9	95249215	.	G	A	1512.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.928;DP=432;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.91;SOR=0.666	GT:AD:DP:GQ:PL	0/1:47,41:88:99:931,0,1103	8	0	2	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	219.55	38	chr9	99218703	.	C	T	219.55	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.051;DP=914;ExcessHet=0.2348;FS=183.52;InbreedingCoeff=-0.1283;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=2.06;SOR=9.953	GT:AD:DP:GQ:PL	0/1:88,32:120:98:98,0,1630	8	0	2	0
chr9	104766382	104766382	C	T	exonic	NIPSNAP3B	.	nonsynonymous SNV	NIPSNAP3B:NM_018376:exon2:c.C118T:p.R40C	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.0352060505424	0.0017	0.000998403	0.0005	0.0038	0.0004	0	0	0.0001	0	6.058e-05	0.0004334	67	154602	rs145340292	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0039	0.0037	0.0045	0.0003	0	0.0002	3.745e-05	0.0014	8.545e-05	0.0006	3.478e-05	0.0013	0.0013	0.0014	0.0011	0.0043	0.0011	0.0011	0.0037	0.0035	0.0043	0	0.0004	0	0.0002	0	0	0.0001	0	0	0.087	0.32453	T	0.087	0.40747	T	0.546	0.38028	P	0.212	0.37394	B	0.000001	0.84330	D	0.054961	0.99999	0.58761	D	2.3	0.65703	M	-0.03	0.63077	T	-6.16	0.90215	D	0.861	0.85766	-0.8590	0.51334	T	0.197	0.55129	T	10	0.056314677	0.06294	T	0.035206	0.56191	D	0.303	0.62400	.	.	0.706412499221	0.70385	0.9138433406568612	0.91359	0.101051018076	0.11422	0.472112894058	0.34971	T	0.177645	0.52801	T	-0.20275	0.20408	T	-0.0638832	0.66059	T	0.0691838158315712	0.08536	T	0.923708	0.72135	D	0.4046713	0.61054	0.32685363	0.58588	0.4046713	0.61055	0.32685363	0.58587	-11.423	0.81927	D	.	.	0.110	0.21163	B	.	.	2.765942	0.36290	20.2	0.97933429839403019	0.36971	0.37985	0.25885	N	AEFGBCI	0.494503	0.53027	N	-0.336366474963486	0.27776	1.526689	-0.415945536473673	0.24529	1.343703	0.999082188481062	0.38397	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.93	0.889	0.18346	3.461000	0.52800	0.274000	0.16691	-0.187000	0.09635	1.000000	0.71638	0.000000	0.08366	0.804000	0.37906	0.0:0.6707:0.15:0.1793	6.411	0.20893	920	0.19381	NIPSNAP	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1046.43	35	chr9	104766382	.	C	T	1046.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.913;DP=407;ExcessHet=0;FS=2.821;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.67;SOR=0.957	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1058,0,943	9	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	2408.23	143	chr9	106974250	.	T	C	2408.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.227;DP=1108;ExcessHet=2.8389;FS=252.583;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.41;ReadPosRankSum=2.05;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,32:138:99:0|1:106974250_T_C:322,0,3914:106974250	4	0	5	1
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	307.43	41	chr9	106974252	.	G	A	307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.026;DP=640;ExcessHet=0;FS=169.717;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.33;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,32:139:99:0|1:106974250_T_C:319,0,3936:106974250	9	0	1	0
chr9	106974261	106974261	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4225A:p.V1409M,ZNF462:NM_021224:exon9:c.G6820A:p.V2274M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.0237725409088	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs771703587	4.788e-06	4.788e-06	1.361e-06	8.25e-06	1.159e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	3.41	0.05574	T	-0.99	0.45222	N	0.759	0.75742	-1.1285	0.01855	T	0.089	0.34216	T	10	0.584641	0.66041	D	0.023773	0.46744	T	0.326	0.64826	0.638	0.77470	0.168254554758	0.16434	0.5712084355408036	0.57048	1.80544744655	0.91727	0.912612318993	0.97712	D	0.026782	0.25469	T	0.120554	0.66428	D	-0.0646089	0.66008	T	0.854712462561015	0.50577	D	0.978102	0.92255	D	0.24959412	0.47955	0.23515618	0.48752	0.24959412	0.47955	0.23515618	0.48751	-8.956	0.67948	D	.	.	0.973	0.89938	P	.;.;.	.;.;.	5.570190	0.92213	32	0.99850496988595183	0.93013	0.98758	0.86475	D	AEFBI	0.900038	0.84512	D	0.6937222423315	0.79219	7.032142	0.726332769258317	0.84379	8.275261	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	7.664000	0.82811	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	305.43	41	chr9	106974261	.	G	A	305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.282;DP=514;ExcessHet=0;FS=162.045;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.59;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,33:143:99:0|1:106974250_T_C:317,0,4012:106974250	9	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	752.88	81	chr9	110137052	.	G	C	752.88	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.8;DP=648;ExcessHet=1.5895;FS=269.449;InbreedingCoeff=-0.3571;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=0.646;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,10:77:4:0|1:110137052_G_C:4,0,2537:110137052	3	0	4	3
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_001136562:exon2:c.G817A:p.A273T,PALM2AKAP2:NM_001198656:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_007203:exon8:c.G1510A:p.A504T,PALM2AKAP2:NM_147150:exon8:c.G1510A:p.A504T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	693.98	81	chr9	110137054	.	G	A	693.98	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-2.298;DP=682;ExcessHet=1.5895;FS=212.426;InbreedingCoeff=-0.3085;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=1.5;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,10:77:4:0|1:110137052_G_C:4,0,2537:110137052	4	0	4	2
chr9	110432032	110432032	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon32:c.G5236A:p.V1746I	.	425	1096	1	0	0	1	0.000455996	.	.	.	3608851	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.500	0.0153137855954	.	.	0.0002	0	0	0	0	4.528e-05	0	0.0010	0.0001294	20	154602	rs562464972	0.0001	0.0001	7.704e-05	0.0001	0.0013	9.45e-05	8.927e-05	0.0011	0.0010	6.143e-05	7.442e-05	0	0	0	0.0004	3.709e-05	5.03e-05	0.0013	1.972e-05	1.97e-05	0	4.036e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	0.059	0.46862	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999451	0.47118	D	-0.43	0.02865	N	.	.	.	.	.	.	0.59	0.69562	0.398	0.89063	D	0.720	0.90393	D	10	0.20588651	0.36831	T	0.015314	0.35967	T	0.500	0.78350	0.477	0.55502	0.043077524339	0.03247	0.1596314628807412	0.15884	0.442571893337	0.44215	0.575675725937	0.49477	T	0.00164	0.23835	T	-0.371247	0.03531	T	-0.356488	0.38458	T	0.372699499130249	0.27901	T	0.813219	0.46599	T	0.12367113	0.29035	0.13724382	0.32810	0.12367113	0.29035	0.13724382	0.32809	-3.258	0.13201	T	.	.	0.121	0.25166	B	.;.	.;.	3.621012	0.51243	23.1	0.99915738134579313	0.98379	0.95658	0.65609	D	AEFBCI	0.890907	0.82637	D	0.345992505570444	0.58527	4.026	0.416286579095403	0.62580	4.475725	0.999999999867595	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	7.375000	0.78897	2.748000	0.34514	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.516000	0.29383	0.0:1.0:0.0:0.0	19.055	0.93040	969	0.06854	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1288.43	39	chr9	110432032	.	C	T	1288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.53;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.363;SOR=0.626	GT:AD:DP:GQ:PL	0/1:34,51:85:99:1300,0,836	9	0	1	0
chr9	111371647	111371647	G	C	exonic	ECPAS	.	nonsynonymous SNV	ECPAS:NM_001363756:exon42:c.C4711G:p.L1571V,ECPAS:NM_001364931:exon42:c.C4729G:p.L1577V,ECPAS:NM_001364929:exon43:c.C4711G:p.L1571V,ECPAS:NM_001364930:exon43:c.C4711G:p.L1571V	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.107806170442	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1366412282	6.842e-07	6.84e-07	1.361e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	0.999927	0.51308	D	.	.	.	-0.76	0.73417	T	-1.77	0.41809	N	0.722	0.81559	-0.0605	0.80982	T	0.482	0.80215	T	10	0.530752	0.63169	D	0.107806	0.78405	D	0.479	0.77012	0.436	0.48828	0.686812096985	0.68413	0.552441269774207	0.55170	0.591997226214	0.54614	0.651847243309	0.60248	T	0.149665	0.48877	T	0.180408	0.72081	D	0.0213677	0.71719	D	0.852983350034797	0.50425	D	0.958804	0.88468	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.46470	B	.;.;.	.;.;.	4.252253	0.64550	24.7	0.99842274304351664	0.92229	0.98511	0.83558	D	AEFBI	0.637853	0.61648	D	0.575936920171336	0.71675	5.687017	0.548953045728676	0.71323	5.637563	0.999915673140502	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	3.47	0.38831	5.515000	0.66765	5.031000	0.46827	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1452:0.0:0.8548:0.0	13.366	0.60130	865	0.32612	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1056.43	42	chr9	111371647	.	G	C	1056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.05;DP=459;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.647;SOR=0.915	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1068,0,1501	9	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1608.71	231	chr9	114406374	.	C	G	1608.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.344;DP=1986;ExcessHet=4.5998;FS=133.457;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=0.598;SOR=11.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,31:185:99:.:.:386,0,4690:.	3	0	6	1
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	961.48	240	chr9	114406375	.	C	G	961.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-6.01;DP=1757;ExcessHet=0.7463;FS=122.086;InbreedingCoeff=-0.1776;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.49;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,31:185:99:.:.:386,0,4690:.	7	0	3	0
chr9	116863665	116863665	C	T	exonic	ASTN2	.	nonsynonymous SNV	ASTN2:NM_014010:exon10:c.G1805A:p.R602H,ASTN2:NM_001365068:exon11:c.G1958A:p.R653H,ASTN2:NM_001365069:exon11:c.G1946A:p.R649H	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0136851543803	.	0.000199681	3.297e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs200637292	3.42e-05	3.42e-05	3.403e-05	3.438e-05	0.0002	2.631e-05	2.375e-05	0.0002	0.0001	8.961e-05	0.0002	0	0	0	0.0002	7.194e-06	9.935e-05	0.0002	0.0002	0.0002	5.14e-05	0.0003	0.0014	0.0001	9.237e-05	0.0009	0.0008	4.814e-05	0	0.0014	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.88582	D	0.000081	0.51296	D	0.131355	1	0.81001	D	0.895	0.22405	L	2.6	0.15145	T	-1.96	0.45404	N	0.882	0.88577	-1.1458	0.01156	T	0.086	0.33550	T	9	0.15670553	0.29507	T	0.013685	0.33266	T	0.291	0.61040	.	.	0.043077524339	0.03247	0.5924561915163101	0.59175	0.289159646238	0.31319	0.781055152416	0.79086	T	0.068798	0.33547	T	-0.0614242	0.42685	T	-0.0256841	0.68654	D	0.226003162559074	0.21759	T	0.969503	0.89043	D	0.13563421	0.31471	0.10576441	0.25432	0.13563421	0.31471	0.10576441	0.25431	-9.027	0.69927	D	.	.	0.724	0.76317	P	.;.;.	.;.;.	5.614856	0.92560	32	0.99863758204508302	0.94184	0.99476	0.96499	D	AEFI	0.921723	0.89563	D	0.688065386612988	0.78850	6.955439	0.729811602459679	0.84643	8.349194	0.999999999999811	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	7.536000	0.80930	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.838	0.96663	773	0.48803	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1281.43	33	chr9	116863665	.	C	T	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.174;DP=456;ExcessHet=0;FS=1.448;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.31;SOR=0.54	GT:AD:DP:GQ:PL	0/1:68,57:125:99:1293,0,1570	9	0	1	0
chr9	117414920	117414920	G	A	exonic	ASTN2	.	nonsynonymous SNV	ASTN2:NM_001365068:exon1:c.C19T:p.R7W,ASTN2:NM_001365069:exon1:c.C19T:p.R7W,ASTN2:NM_014010:exon1:c.C19T:p.R7W	.	446	1070	5	1	0	7	0.00326036	.	.	.	2335308	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.628503391134	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1024122669	0.0002	0.0002	0.0003	0.0002	0.0011	0.0002	0.0002	0.0002	0.0002	0	0.0003	0	0	0	0.0011	0.0003	0.0004	0	0.0002	0.0002	0.0003	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	2.437e-05	0	6.667e-05	0	0	0	0	0.0004	0.0005	0	0.0	0.91255	D	0.003	0.76473	D	0.972	0.60381	D	0.14	0.36707	B	.	.	.	.	1	0.81001	D	0	0.06538	N	2.8	0.11407	T	-0.13	0.08971	N	0.15	0.30233	-0.9979	0.30507	T	0.011	0.04227	T	8	0.1547525	0.29183	T	0.628503	0.96803	D	0.094	0.27141	0.242	0.17524	0.043077524339	0.03247	0.3856249486856828	0.38477	1.95493431167	0.93394	0.897190451622	0.96122	D	0.012024	0.10639	T	-0.201745	0.20554	T	-0.527569	0.19530	T	0.591246787192722	0.36055	D	0.719828	0.35112	T	0.1727668	0.37987	0.26475748	0.52300	0.1727668	0.37986	0.26475748	0.52299	-5.188	0.38819	T	.	.	0.585	0.68247	P	.;.	.;.	4.092826	0.60974	24.3	0.99630521077966683	0.76020	0.18573	0.20316	N	AEFDBCI	0.208925	0.33496	N	-0.214965823311667	0.32519	1.834833	-0.173867203863656	0.32501	1.849703	0.999999857593612	0.74766	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	2.56	2.56	0.29842	0.544000	0.22960	5.573000	0.48948	0.296000	0.18849	0.001000	0.13787	1.000000	0.68203	0.704000	0.34264	0.1646:0.0:0.8354:0.0	5.938	0.18413	854	0.34840	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001767	0.000000	0.000000	0.000000	0.000000	0.000000	0.008475	0.000000	0.05	350.36	4	chr9	117414920	.	G	A	350.36	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.185;DP=55;ExcessHet=0;FS=0;InbreedingCoeff=-0.1124;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=25.03;ReadPosRankSum=-1.006;SOR=0.307	GT:AD:DP:GQ:PL	0/1:2,12:14:38:361,0,38	9	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	6507.37	305	chr9	122724732	.	T	C	6507.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.17;DP=3293;ExcessHet=7.0302;FS=29.826;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=58.43;MQRankSum=-15.33;QD=2.86;ReadPosRankSum=-7.039;SOR=4.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,58:329:99:0|1:122724732_T_C:1490,0,11077:122724732	0	0	7	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	4321.95	292	chr9	122724738	.	T	C	4321.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.576;DP=2474;ExcessHet=7.0302;FS=34.706;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.47;MQRankSum=-16.72;QD=1.99;ReadPosRankSum=-5.814;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,46:315:99:0|1:122724732_T_C:1122,0,11153:122724732	3	0	7	0
chr9	123382480	123382480	G	A	exonic	DENND1A	.	nonsynonymous SNV	DENND1A:NM_001352965:exon21:c.C2015T:p.S672L,DENND1A:NM_020946:exon22:c.C1982T:p.S661L,DENND1A:NM_001352964:exon24:c.C2165T:p.S722L	.	411	1090	19	2	0	23	0.0104403	.	.	.	700791	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0040	0.00778754	0.0065	0.0016	0.0022	0.0107	0.0015	0.0056	0.0100	0.0155	0.0058796	909	154602	rs149353656	0.0060	0.0060	0.0057	0.0063	0.0153	0.0059	0.0058	0.0136	0.0134	0.0009	0.0025	0.0124	0.0107	0.0018	0.0153	0.0054	0.0074	0.0143	0.0047	0.0047	0.0047	0.0046	0.0172	0.0044	0.0043	0.0142	0.0131	0.0013	0.0055	0.0035	0.0124	0.0143	0.0010	0.0204	0.0055	0.0038	0.0172	0.728	0.03834	T	0.503	0.11078	T	0.0	0.02946	B	0.0	0.01387	B	0.077858	0.21079	N	0.460627	1	0.08975	N	1.595	0.40691	L	3.61	0.04446	T	-0.06	0.07882	N	0.023	0.00407	-1.0214	0.23259	T	0.015	0.05801	T	10	0.0024849474	0.00037	T	.	.	.	0.014	0.01968	.	.	0.102598925029	0.09809	0.12039123068237156	0.11966	0.266882232416	0.29225	0.305937558413	0.11293	T	0.015785	0.13173	T	-0.716801	0.00029	T	-0.790087	0.02162	T	1.83875618510104e-05	0.00000	T	0.70293	0.31283	T	0.036001902	0.04347	0.033401318	0.02229	0.036001902	0.04346	0.033401318	0.02229	-3.822	0.21134	T	.	.	0.070	0.03301	B	.	.	-0.066293	0.03848	0.828	0.57446845061756979	0.05771	0.17242	0.19752	N	AEFGBI	0.119193	0.23274	N	-0.895122886856267	0.10958	0.5263013	-0.835137910138829	0.13645	0.7089742	0.997878044778746	0.36137	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.06	1.79	0.23992	1.143000	0.31164	2.951000	0.35712	-0.768000	0.03469	0.399000	0.26162	0.947000	0.28924	0.007000	0.07825	0.467:0.0:0.533:0.0	6.514	0.21436	379	0.83778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.015152	0.013587	0.020468	0.050000	0.000000	0.006098	0.011364	0.05	1463.43	43	chr9	123382480	.	G	A	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.56;DP=437;ExcessHet=0;FS=5.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.85;ReadPosRankSum=-1.26;SOR=0.732	GT:AD:DP:GQ:PL	0/1:32,50:82:99:1475,0,720	9	0	1	0
chr9	125302647	125302647	G	A	exonic	GAPVD1	.	nonsynonymous SNV	GAPVD1:NM_001282681:exon3:c.G850A:p.V284M,GAPVD1:NM_001330778:exon3:c.G850A:p.V284M,GAPVD1:NM_001354294:exon3:c.G850A:p.V284M,GAPVD1:NM_001354298:exon3:c.G850A:p.V284M,GAPVD1:NM_015635:exon3:c.G850A:p.V284M,GAPVD1:NM_001330777:exon4:c.G850A:p.V284M,GAPVD1:NM_001354295:exon4:c.G850A:p.V284M,GAPVD1:NM_001354300:exon4:c.G850A:p.V284M,GAPVD1:NM_001282679:exon5:c.G850A:p.V284M,GAPVD1:NM_001282680:exon5:c.G850A:p.V284M,GAPVD1:NM_001354293:exon5:c.G850A:p.V284M,GAPVD1:NM_001354296:exon5:c.G850A:p.V284M,GAPVD1:NM_001354297:exon5:c.G850A:p.V284M,GAPVD1:NM_001354301:exon5:c.G850A:p.V284M,GAPVD1:NM_001354299:exon6:c.G850A:p.V284M	.	435	1075	12	0	0	12	0.00555042	.	.	.	700797	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.356	0.0493472363448	0.0037	0.00359425	0.0040	0.0010	0.0022	0	0.0020	0.0046	0.0022	0.0079	0.0041526	642	154602	rs55779102	0.0046	0.0046	0.0045	0.0047	0.0078	0.0045	0.0044	0.0073	0.0071	0.0007	0.0028	7.653e-05	5.038e-05	0.0020	0.0043	0.0049	0.0045	0.0078	0.0031	0.0031	0.0031	0.0031	0.0075	0.0028	0.0028	0.0056	0.0049	0.0007	0	0.0035	0.0006	0.0004	0.0014	0.0034	0.0047	0.0043	0.0075	0.001	0.78490	D	0.0	0.92824	D	0.991	0.90584	D	0.883	0.83170	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.445	0.36358	L	-1.32	0.79761	T	-2.41	0.54217	N	0.715	0.74826	0.156	0.85154	D	0.551	0.83550	D	10	0.013211578	0.00281	T	0.049347	0.63771	D	0.684	0.88443	.	.	0.876937445428	0.87573	0.6580388427450596	0.65740	0.613198805805	0.55896	0.82372969389	0.85600	D	0.39639	0.75503	T	-0.00825578	0.50510	T	0.21993	0.84170	D	0.0236995626025245	0.01108	T	0.927307	0.73215	D	0.5044271	0.67354	0.45495492	0.68310	0.5044271	0.67355	0.45495492	0.68311	-12.889	0.89389	D	.	.	0.168	0.63769	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.108793	0.85399	28.6	0.99895898233659841	0.96895	0.99304	0.94225	D	AEFBI	0.893476	0.83148	D	0.843781982928702	0.88749	9.697589	0.873656879893523	0.94320	12.66926	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.878000	0.85659	11.828000	0.97436	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.868	0.96822	814	0.42100	Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;.;Ras GTPase-activating domain|Ras GTPase-activating domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	2425.43	34	chr9	125302647	.	G	A	2425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.93;DP=510;ExcessHet=0;FS=1.963;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.064;SOR=0.552	GT:AD:DP:GQ:PL	0/1:72,90:162:99:2437,0,1648	9	0	1	0
chr9	127747257	127747257	C	T	exonic	SH2D3C	.	nonsynonymous SNV	SH2D3C:NM_001142533:exon4:c.G680A:p.R227H,SH2D3C:NM_001142534:exon4:c.G674A:p.R225H,SH2D3C:NM_001142531:exon5:c.G92A:p.R31H,SH2D3C:NM_001142532:exon5:c.G92A:p.R31H,SH2D3C:NM_005489:exon5:c.G683A:p.R228H,SH2D3C:NM_001252334:exon6:c.G950A:p.R317H,SH2D3C:NM_170600:exon6:c.G1154A:p.R385H	.	423	1098	1	0	0	1	0.000455166	.	.	.	2362237	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0069137101531	0.0002	.	0.0002	9.86e-05	8.79e-05	0.0001	0	7.648e-05	0	0.0008	0.0001423	22	154602	rs140336739	0.0001	0.0001	6.539e-05	0.0001	0.0010	9.098e-05	8.605e-05	0.0008	0.0008	0	2.237e-05	0	0.0001	0	0.0004	4.857e-05	9.942e-05	0.0010	4.602e-05	5.254e-05	6.425e-05	2.692e-05	0.0006	2.11e-05	1.527e-05	0.0002	9e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.473	0.12148	T	0.558	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.000155	0.49130	N	0.239384	0.794131	0.34425	D	-1.735	0.00332	N	2.7	0.20808	T	0.87	0.02007	N	0.062	0.04188	-0.9897	0.32677	T	0.015	0.06090	T	10	0.010110617	0.00226	T	0.006914	0.18289	T	0.040	0.10527	.	.	0.449669948863	0.44590	0.15152059900254194	0.15074	0.495590999531	0.48094	0.19736994803	0.00384	T	0.021106	0.16497	T	-0.524778	0.00412	T	-0.585775	0.14034	T	0.0223928361241865	0.00953	T	0.814719	0.46890	T	0.027732179	0.02008	0.029225674	0.01237	0.027732179	0.02007	0.029225674	0.01237	-4.625	0.39913	T	.	.	0.054	0.00444	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.613228	0.20610	14.83	0.88626042592092735	0.18125	0.10731	0.16153	N	AEFDGBHCI	0.083214	0.16858	N	-0.797906477012736	0.13364	0.6578424	-0.566873929578278	0.20359	1.096536	0.999990506763312	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	5.34	2.92	0.32998	2.454000	0.44636	1.913000	0.29659	-0.313000	0.06017	1.000000	0.71638	1.000000	0.68203	0.668000	0.33194	0.0:0.0802:0.1484:0.7714	7.012	0.24044	294	0.88270	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1530.43	33	chr9	127747257	.	C	T	1530.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=424;ExcessHet=0;FS=0.719;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.871;SOR=0.621	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1542,0,1198	9	0	1	0
chr9	130396183	130396183	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon73:c.C11068T:p.R3690W	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889933653	8.463e-05	7.114e-05	7.99e-05	8.961e-05	0.0025	7.068e-05	6.564e-05	0.0014	0.0011	8.285e-05	0.0001	0	8.098e-05	0	0.0025	7.267e-05	0.0002	5.275e-05	3.297e-05	3.285e-05	3.865e-05	2.701e-05	6.57e-05	1.264e-05	8e-06	8.04e-06	3.01e-06	4.85e-05	0	6.57e-05	0	0	0	0	2.944e-05	0	0	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.28498	.	.	.	.	.	.	.	0.18086404	0.33291	T	.	.	.	.	.	.	.	0.319686207203	0.31575	0.607130564527308	0.60645	.	.	.	.	.	0.068293	0.33421	T	-0.407473	0.02067	T	-0.586414	0.13978	T	.	.	.	0.667933	0.27701	T	0.19725412	0.41583	0.16588561	0.38352	0.19725412	0.41583	0.16588561	0.38351	-7.563	0.58052	D	.	.	0.104	0.18746	B	.	.	3.008184	0.40220	21.1	0.71129836947590164	0.09525	0.13500	0.17891	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0716594537524788	0.15575	0.252514	0.04256	0	0.063388	0.01293	0	0.295636	0.05589	0	0.079188	0.02158	0	0.143992	0.26964	5.69	2.61	0.30255	0.512000	0.22461	2.114000	0.30678	-0.223000	0.07921	0.028000	0.20300	0.986000	0.30841	0.004000	0.06068	0.2715:0.5972:0.1312:0.0	10.301	0.42831	382	0.83637	Immunoglobulin I-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	770.43	33	chr9	130396183	.	C	T	770.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=355;ExcessHet=0;FS=1.193;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=1.18;SOR=1.012	GT:AD:DP:GQ:PL	0/1:24,26:50:99:782,0,614	9	0	1	0
chr9	130884986	130884986	C	T	exonic	ABL1	.	nonsynonymous SNV	ABL1:NM_005157:exon11:c.C2696T:p.P899L,ABL1:NM_007313:exon11:c.C2753T:p.P918L	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)	.	.	.	.	.	.	.	.	.	.	2826506	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.216	0.0392444207824	.	.	3.904e-05	0	0	0	0	5.385e-05	0	6.433e-05	2.59e-05	4	154602	rs777134913	1.714e-05	1.779e-05	2.046e-05	1.378e-05	8.966e-05	1.176e-05	9.94e-06	2.376e-05	1.258e-05	8.966e-05	4.494e-05	0.0003	2.523e-05	1.935e-05	0	5.399e-06	3.322e-05	1.161e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	0	0	0.0002	0.006	0.61437	D	0.176	0.29945	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	1.29	0.35775	T	-3.89	0.72820	D	0.508	0.53972	-0.9504	0.40903	T	0.152	0.48032	T	10	0.27066302	0.44599	T	0.039244	0.58699	D	0.216	0.50959	0.255	0.19533	0.484561410422	0.48089	0.26911263282266024	0.26824	0.801583472613	0.66277	0.688169121742	0.65442	T	0.642545	0.89056	D	-0.190374	0.22204	T	-0.335388	0.40865	T	0.530407249927521	0.33749	D	0.933007	0.75597	D	0.23782265	0.46652	0.19218062	0.42718	0.23782265	0.46652	0.19218062	0.42717	-5.487	0.41747	T	0.6805784037750102	0.75690	0.139	0.34906	B	.;.	.;.	4.253359	0.64575	24.7	0.94679798744629773	0.25312	0.95639	0.65530	D	AEFDGBCI	0.701915	0.65846	D	0.544121478596182	0.69724	5.397923	0.560890149974679	0.72160	5.765979	0.999999999964946	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	5.740000	0.68268	7.492000	0.59381	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.501000	0.29039	0.0:1.0:0.0:0.0	17.346	0.87197	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	803.43	36	chr9	130884986	.	C	T	803.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.651;DP=382;ExcessHet=0;FS=7.273;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.489;SOR=0.209	GT:AD:DP:GQ:PL	0/1:28,32:60:99:815,0,807	9	0	1	0
chr9	136011887	136011887	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon6:c.A1393G:p.M465V	.	412	1071	39	0	0	39	0.0178817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0079	0.00858626	0.0168	0.0012	0.0127	0	0.0199	0.0166	0.0072	0.0266	0.0070762	1094	154602	rs61742050	0.0091	0.0090	0.0086	0.0096	0.0208	0.0090	0.0089	0.0199	0.0196	0.0007	0.0049	0.0204	0.0001	0.0039	0.0087	0.0089	0.0091	0.0208	0.0071	0.0071	0.0068	0.0076	0.0199	0.0068	0.0066	0.0167	0.0155	0.0013	0.0077	0.0049	0.0204	0.0002	0.0064	0.0102	0.0101	0.0109	0.0199	0.229	0.18371	T	1.0	0.01155	T	0.01	0.15535	B	0.004	0.10090	B	0.000000	0.84330	D	0.048243	0.958512	0.38079	D	0.895	0.22405	L	0.08	0.61559	T	0.27	0.04306	N	0.19	0.20793	-1.0459	0.15563	T	0.080	0.31824	T	10	0.0054822266	0.00121	T	.	.	.	0.058	0.16647	.	.	0.513503867364	0.50992	0.23018189085281895	0.22933	0.687941237011	0.60407	0.775818347931	0.78298	T	0.161096	0.50521	T	-0.491651	0.00636	T	-0.462743	0.26300	T	0.00460462130183993	0.00049	T	0.720928	0.33404	T	0.18694432	0.40126	0.20599216	0.44794	0.18694432	0.40125	0.20599216	0.44793	-1.213	0.01269	T	.	.	0.086	0.10449	B	.;.	.;.	1.990718	0.25293	16.71	0.95937216529691349	0.28233	0.89977	0.50804	D	AEFBHCI	0.204167	0.33063	N	-0.361306863027207	0.26859	1.46913	-0.176787345977006	0.32391	1.842405	0.99999991120564	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.26897	0.05253	2	0.591603	0.36755	0	.	.	5.23	4.09	0.47038	2.762000	0.47278	3.343000	0.37723	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0797:0.0:0.9203	10.044	0.41345	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009635	0.005208	0.005435	0.017544	0.000000	0.026316	0.021605	0.007576	0.05	2384.43	41	chr9	136011887	.	T	C	2384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.35;DP=572;ExcessHet=0;FS=1.77;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.562;SOR=0.847	GT:AD:DP:GQ:PL	0/1:105,92:197:99:2396,0,2782	9	0	1	0
chr9	136945952	136945952	G	A	exonic	C8G	.	nonsynonymous SNV	C8G:NM_000606:exon3:c.G299A:p.R100H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00796889482111	0.0002	.	8.046e-05	0.0003	0	0	0	9.046e-05	0	0	1.29e-05	2	154602	rs374701186	6.361e-06	1.779e-05	1.399e-06	1.143e-05	3.083e-05	2.99e-06	2.17e-06	2.67e-06	1.72e-06	3.083e-05	0	0	0	0	0	6.431e-06	0	1.233e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.829e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.829e-05	0	0	0	0	0	0	0	0	0	0.073	0.34800	T	0.023	0.57104	D	0.971	0.57185	D	0.653	0.52567	P	0.006928	0.31707	N	0.199212	1	0.08975	N	2.555	0.74557	M	3.14	0.07920	T	-2.21	0.50337	N	0.418	0.45803	-1.1000	0.04091	T	0.037	0.16116	T	10	0.17517504	0.32436	T	0.007969	0.21136	T	0.070	0.20419	.	.	0.170165803431	0.16609	0.47561722671581785	0.47480	0.123648921173	0.13916	0.497201234102	0.38438	T	0.008394	0.07715	T	-0.182932	0.23300	T	-0.500546	0.22291	T	0.25992152094841	0.23311	T	0.814719	0.46890	T	0.3298691	0.55460	0.2774218	0.53695	0.3298691	0.55460	0.2774218	0.53694	-10.249	0.75389	D	.	.	0.114	0.22717	B	.;.	.;.	3.363559	0.46445	22.3	0.99899587644113208	0.97199	0.05081	0.10877	N	AEFGBI	0.551489	0.56354	D	0.142462049673514	0.48455	3.057612	0.0569386518438389	0.42407	2.564542	0.999988872066677	0.51787	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.562822	0.20929	0	.	.	4.79	3.62	0.40616	0.179000	0.16653	-0.511000	0.08745	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.730000	0.35099	0.1334:0.0:0.8666:0.0	10.870	0.46086	878	0.29785	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	952.43	35	chr9	136945952	.	G	A	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.787;DP=411;ExcessHet=0;FS=2.013;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.419;SOR=0.453	GT:AD:DP:GQ:PL	0/1:32,38:70:99:964,0,792	9	0	1	0
chr9	137169519	137169519	A	C	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.T425G:p.L142R	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.453145995777	.	0.000998403	0.0052	0.0035	0.0049	0	0	0.0013	0	0.0072	0.0005498	85	154602	rs532802522	0.0005	0.0005	0.0003	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	3.438e-05	0.0003	0.0003	2.931e-05	0	0.0044	7.631e-05	0.0007	0.0062	0.0005	0.0005	0.0003	0.0008	0.0056	0.0004	0.0004	0.0039	0.0034	4.813e-05	0	0.0027	0.0009	0	0	0	0.0001	0	0.0056	0.019	0.50132	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.002186	0.37053	N	0.000000	0.96542	0.38467	D	4.255	0.98070	H	3.59	0.04544	T	-4.28	0.76334	D	0.714	0.71676	-0.9643	0.38350	T	0.083	0.32556	T	10	0.07249701	0.10829	T	0.453146	0.94379	D	0.269	0.58381	0.907	0.98068	0.50539470866	0.50177	0.5839449485821246	0.58323	1.83200647507	0.92061	0.91601729393	0.98005	D	0.360377	0.72663	T	-0.288284	0.09809	T	-0.18329	0.56217	T	0.116531804214541	0.14087	T	0.558444	0.19458	T	0.60605323	0.73016	0.6238569	0.78079	0.60605323	0.73017	0.6238569	0.78080	-12.749	0.88302	D	.	.	0.752	0.75157	P	.	.	4.518965	0.70831	25.6	0.99668429547880644	0.78394	0.52538	0.29155	D	ALL	0.474485	0.51873	N	0.677889401193372	0.78182	6.820648	0.49112423817239	0.67399	5.079024	0.999999999999979	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.14	4.14	0.47821	2.444000	0.44549	7.718000	0.67175	0.626000	0.51810	0.934000	0.32416	1.000000	0.68203	0.519000	0.29452	0.8827:0.0:0.1173:0.0	6.268	0.20148	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002121	0.000000	0.001401	0.003145	0.000000	0.000000	0.003226	0.007752	0.05	760.43	33	chr9	137169519	.	A	C	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.258;DP=413;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=2.26;SOR=0.501	GT:AD:DP:GQ:PL	0/1:49,34:83:99:772,0,1409	9	0	1	0
chr9	137215195	137215195	C	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon8:c.C1064T:p.S355L,NDOR1:NM_001144026:exon9:c.C1166T:p.S389L,NDOR1:NM_001144028:exon9:c.C1166T:p.S389L,NDOR1:NM_014434:exon9:c.C1166T:p.S389L	.	404	1093	24	1	0	26	0.0117541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	.	0.0026	0.00119808	0.0042	0.0005	0.0020	0	0.0202	0.0043	0.0090	0.0045	0.0036416	563	154602	rs150718423	0.0033	0.0033	0.0032	0.0034	0.0050	0.0032	0.0032	0.0044	0.0042	0.0004	0.0023	0.0008	0	0.0140	0.0050	0.0030	0.0034	0.0047	0.0034	0.0034	0.0027	0.0041	0.0040	0.0031	0.0030	0.0036	0.0034	0.0004	0	0.0027	0.0003	0.0002	0.0146	0.0034	0.0040	0.0047	0.0039	0.001	0.78490	D	0.002	0.79402	D	0.999	0.90584	D	0.947	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.15	0.97575	H	-0.99	0.75911	T	-5.67	0.87143	D	0.818	0.81360	0.528	0.90939	D	0.652	0.87866	D	10	0.028880298	0.01017	T	.	.	.	0.633	0.85924	.	.	0.900595898261	0.89960	0.8560677092019127	0.85569	0.686208846331	0.60320	0.737328290939	0.72579	T	0.205969	0.56518	T	-0.00834766	0.50497	T	0.215911	0.83969	D	0.13665932178373	0.15984	T	0.979469	0.92930	D	0.7062033	0.78398	0.6236406	0.78067	0.7062033	0.78399	0.6236406	0.78068	-11.428	0.82678	D	.	.	0.683	0.72283	P	.;.;.;.	.;.;.;.	4.687627	0.75076	26.3	0.99846681344304111	0.92663	0.90458	0.51651	D	AEFGBI	0.363951	0.45267	N	0.422679150873749	0.62672	4.48692	0.231735266002781	0.51615	3.342666	0.999999999999459	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	5.387000	0.65993	7.431000	0.58793	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:1.0:0.0:0.0	16.266	0.82404	988	0.01987	.;.;.;Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding|Flavoprotein pyridine nucleotide cytochrome reductase|FAD-binding domain, ferredoxin reductase-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	0.006073	0.000000	0.002717	0.005882	0.000000	0.000000	0.012346	0.007634	0.05	1216.43	40	chr9	137215195	.	C	T	1216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.529;DP=448;ExcessHet=0;FS=2.361;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.367;SOR=0.924	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1228,0,1447	9	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1822.95	95	chr10	825249	.	T	C	1822.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.251;DP=1130;ExcessHet=7.0302;FS=212.087;InbreedingCoeff=-0.5384;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.58;SOR=11.374	GT:AD:DP:GQ:PL	0/1:108,30:138:39:39,0,2203	3	0	7	0
chr10	1017098	1017098	G	C	exonic	GTPBP4	.	nonsynonymous SNV	GTPBP4:NM_012341:exon17:c.G1776C:p.M592I	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0004	0.00239617	0.0019	0	0.0002	0	0.0003	0.0005	0.0022	0.0114	0.0016041	248	154602	rs147640846	0.0010	0.0010	0.0007	0.0012	0.0092	0.0009	0.0009	0.0087	0.0085	0.0003	0.0002	0	2.519e-05	0.0004	0.0021	0.0005	0.0012	0.0092	0.0008	0.0008	0.0006	0.0009	0.0077	0.0006	0.0006	0.0057	0.0050	0.0001	0	0.0002	0	0	0.0002	0.0068	0.0009	0.0009	0.0077	0.389	0.10874	T	0.452	0.12884	T	0.0	0.02946	B	0.001	0.04355	B	0.000002	0.62929	D	0.182440	0.999963	0.52935	D	0.245	0.09735	N	1.59	0.28836	T	-0.37	0.13226	N	0.213	0.23758	-1.0540	0.13305	T	0.029	0.12409	T	10	0.0057736933	0.00129	T	.	.	.	0.078	0.22779	0.417	0.45709	0.189391138174	0.18552	0.21330105384493755	0.21246	0.0983761577617	0.11110	0.468518197536	0.34477	T	0.006927	0.06354	T	-0.568482	0.00226	T	-0.579967	0.14547	T	0.0225113992474674	0.00967	T	0.844715	0.52235	T	0.07879132	0.17963	0.077401735	0.17239	0.07879132	0.17962	0.077401735	0.17239	-4.074	0.24905	T	.	.	0.187	0.40424	B	.	.	2.602378	0.33784	19.44	0.96234924047476711	0.29132	0.86887	0.46269	D	AEFBCI	0.214662	0.34011	N	-0.26257762604018	0.30605	1.708026	-0.0206527000993103	0.38783	2.289937	0.285162915370072	0.19029	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	3.82	0.43153	1.543000	0.35754	7.915000	0.74225	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0705:0.1286:0.6679:0.133	6.765	0.22749	662	0.61715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.003788	0.05	772.43	34	chr10	1017098	.	G	C	772.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.555;DP=382;ExcessHet=0;FS=1.995;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.632;SOR=0.965	GT:AD:DP:GQ:PL	0/1:35,33:68:99:784,0,879	9	0	1	0
chr10	7744255	7744255	G	T	exonic	ITIH2	.	nonsynonymous SNV	ITIH2:NM_002216:exon18:c.G2383T:p.D795Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0301338539732	.	0.000199681	4.943e-05	0	8.637e-05	0	0	0	0	0.0003	4.53e-05	7	154602	rs541401394	3.558e-05	3.557e-05	1.498e-05	5.639e-05	0.0006	2.763e-05	2.502e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0006	1.97e-05	1.969e-05	1.285e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.018e-05	0	0	0	0	0	0	0	0	0	0.0006	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.99	0.78936	D	0.000363	0.45194	D	0.186725	0.975877	0.39226	D	3.145	0.88303	M	2.61	0.13095	T	-5.62	0.86758	D	0.756	0.77039	-0.8183	0.54040	T	0.137	0.45280	T	10	0.7614981	0.76380	D	0.030134	0.52511	D	0.259	0.57090	0.707	0.84327	0.461323234107	0.45759	0.6319655510411962	0.63130	0.513273322705	0.49325	0.445955276489	0.31392	T	0.116304	0.43554	T	-0.201927	0.20526	T	-0.205865	0.54091	T	0.863491177558899	0.51373	D	0.831417	0.49863	T	0.7289076	0.79662	0.73305845	0.84225	0.7289076	0.79663	0.73305845	0.84226	-5.685	0.43560	T	.	.	0.172	0.37671	B	.;.	.;.	4.058012	0.60201	24.2	0.98924334155265581	0.48620	0.82637	0.41837	D	AEFBCI	0.902850	0.85124	D	0.704977653145886	0.79959	7.18928	0.598961848460565	0.74863	6.210392	0.21181762207798	0.18249	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.664235	0.64389	0	.	.	5.52	5.52	0.82153	4.653000	0.61156	11.672000	0.94114	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	17.637	0.88026	845	0.36510	Inter-alpha-trypsin inhibitor heavy chain, C-terminal;Inter-alpha-trypsin inhibitor heavy chain, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	457.43	37	chr10	7744255	.	G	T	457.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=370;ExcessHet=0;FS=1.19;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=0.643;SOR=1.048	GT:AD:DP:GQ:PL	0/1:36,18:54:99:469,0,932	9	0	1	0
chr10	13656924	13656929	CGCCGC	-	exonic	FRMD4A	.	nonframeshift deletion	FRMD4A:NM_001318338:exon11:c.1733_1738del:p.G578_G579del,FRMD4A:NM_001318336:exon21:c.2708_2713del:p.G903_G904del,FRMD4A:NM_001318337:exon21:c.2759_2764del:p.G920_G921del,FRMD4A:NM_018027:exon22:c.2660_2665del:p.G887_G888del	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0005	0	0	5.222e-05	0	0.0005	3.84e-05	1	26028	rs772283361	3.491e-05	3.899e-05	1.619e-05	5.396e-05	0.0004	2.69e-05	2.411e-05	0.0003	0.0003	0.0001	0	0	0	0	0.0002	5.65e-06	7.231e-05	0.0004	3.976e-05	3.941e-05	5.184e-05	2.712e-05	0.0006	1.727e-05	1.137e-05	0.0002	8.985e-05	4.826e-05	0	0	0	0	0	0	1.48e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5172.09	89	chr10	13656923	.	TCGCCGC	T	5172.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=532;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.2;ReadPosRankSum=1.74;SOR=0.68	GT:AD:DP:GQ:PL	0/1:60,84:144:99:3322,0,2235	9	0	1	0
chr10	19607878	19607878	-	A	exonic	MALRD1	.	frameshift insertion	MALRD1:NM_001142308:exon35:c.6047dupA:p.L2017Afs*2	.	437	1082	1	2	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0006	0	0	7.12e-05	11	154602	rs766936322	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	3.17e-05	8.407e-05	7.95e-05	0	0	0.0009	0.0002	0.0002	2.525e-05	0.0001	0.0001	0.0002	8.087e-05	0.0002	7.588e-05	6.291e-05	0.0001	9.903e-05	2.415e-05	0	0	0.0003	0	0	0	0.0002	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1562.39	35	chr10	19607878	.	C	CA	1562.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.3;DP=492;ExcessHet=0;FS=3.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.048;SOR=0.633	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1574,0,1569	9	0	1	0
chr10	26096633	26096633	A	G	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon17:c.A1727G:p.Q576R	Deafness, autosomal recessive 30, Autosomal recessive	17	1502	2	1	0	4	0.00132979	.	.	.	1367251	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.658	0.0271743659824	7.7e-05	.	2.479e-05	0	0	0	0	1.501e-05	0	0.0001	1.94e-05	3	154602	rs147703579	3.025e-05	3.215e-05	1.78e-05	4.281e-05	0.0003	2.293e-05	2.042e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0	1.176e-05	1.662e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21467	T	0.387	0.24987	T	0.333	0.45171	B	0.147	0.44011	B	0.000001	0.84330	D	0.057373	1	0.81001	D	0.305	0.10234	N	-0.54	0.86815	T	-1.41	0.34795	N	0.752	0.86191	-0.0269	0.81696	T	0.539	0.82989	D	10	0.52203846	0.62698	D	0.027174	0.50018	D	0.658	0.87184	.	.	0.891885484271	0.89081	0.6180924043573426	0.61742	0.0834184838175	0.09409	0.522438168526	0.41970	T	0.224529	0.67768	T	0.14696	0.68983	D	0.233	0.84815	D	0.576419949531555	0.35481	D	0.79802	0.44234	T	0.40582967	0.61135	0.34365866	0.60074	0.40582967	0.61135	0.34365866	0.60073	-10.271	0.75519	D	0.3375079193040379	0.43539	0.103	0.26074	B	.;.;.	.;.;.	3.622375	0.51274	23.1	0.99528313709044824	0.69715	0.99792	0.99498	D	AEFI	0.932476	0.92289	D	0.325351045815627	0.57451	3.912673	0.43356167753895	0.63668	4.605231	0.99811033422935	0.36446	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	9.325000	0.96006	9.348000	0.80273	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.075	0.71738	907	0.22727	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3619.12	34	chr10	26096633	.	A	G	3619.12	.	AC=2;AF=0.1;AN=20;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.95;SOR=0.958	GT:AD:DP:GQ:PL	1/1:0,125:125:99:3642,375,0	9	1	0	0
chr10	26219214	26219214	C	A	exonic	GAD2	.	nonsynonymous SNV	GAD2:NM_000818:exon4:c.C458A:p.P153Q,GAD2:NM_001134366:exon4:c.C458A:p.P153Q	.	428	1078	16	0	0	16	0.00736648	.	.	.	712309	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.447	.	0.0055	0.00279553	0.0061	0.0016	0.0014	0	0.0126	0.0085	0.0022	0.0030	0.006009	929	154602	rs2839672	0.0067	0.0068	0.0068	0.0067	0.0076	0.0066	0.0066	0.0075	0.0074	0.0009	0.0015	0.0035	2.521e-05	0.0098	0.0021	0.0076	0.0059	0.0033	0.0052	0.0052	0.0053	0.0051	0.0080	0.0049	0.0048	0.0075	0.0072	0.0011	0.0175	0.0020	0.0037	0.0002	0.0108	0.0034	0.0080	0.0033	0.0037	0.014	0.53172	D	0.019	0.59159	D	0.991	0.64070	D	0.852	0.60758	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.025	0.86340	M	1.08	0.39401	T	-4.58	0.78807	D	0.804	0.79986	-0.2836	0.75442	T	0.336	0.70240	T	10	0.009708941	0.00218	T	.	.	.	0.447	0.74866	.	.	0.592885698768	0.58965	0.8913585188844813	0.89105	1.15829965559	0.79406	0.628985524178	0.57000	T	0.812563	0.95331	D	-0.155418	0.27467	T	0.0143647	0.71265	D	0.0168037882224415	0.00435	T	0.956904	0.88371	D	0.7838858	0.82893	0.7812087	0.87103	0.7838858	0.82895	0.7812087	0.87104	-9.146	0.68632	D	.	.	0.730	0.74185	P	.;.;.	.;.;.	5.013893	0.83284	28.0	0.99249905503777203	0.56825	0.98686	0.85574	D	AEFBI	0.957131	0.97612	D	0.887826233389038	0.91152	10.74023	0.85406466692396	0.93253	11.92113	0.999999999992282	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.61	5.61	0.85347	7.568000	0.81546	7.628000	0.62604	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.644	0.95762	666	0.61362	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002020	0.000000	0.000000	0.000000	0.000000	0.008621	0.003067	0.007576	0.1	3291.12	35	chr10	26219214	.	C	A	3291.12	.	AC=2;AF=0.1;AN=20;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.05;SOR=1.3	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3314,318,0	9	1	0	0
chr10	31820479	31820479	T	A	exonic	ARHGAP12	.	nonsynonymous SNV	ARHGAP12:NM_001270699:exon8:c.A1384T:p.N462Y,ARHGAP12:NM_001270698:exon9:c.A1309T:p.N437Y,ARHGAP12:NM_001270696:exon10:c.A1450T:p.N484Y,ARHGAP12:NM_001270695:exon11:c.A1525T:p.N509Y,ARHGAP12:NM_001270697:exon11:c.A1399T:p.N467Y,ARHGAP12:NM_018287:exon12:c.A1540T:p.N514Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.0497099169737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs374993453	6.956e-07	1.368e-06	1.383e-06	0	3.093e-05	0	0	.	.	3.093e-05	0	0	0	0	0	0	0	0	1.973e-05	1.97e-05	1.286e-05	2.692e-05	4.827e-05	5.25e-06	2.46e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	1.471e-05	0	0	0.003	0.72154	D	0.004	0.74150	D	0.994	0.70673	D	0.942	0.71341	D	0.000000	0.84330	D	0.041576	0.999996	0.58761	D	1.87	0.49600	L	-0.95	0.75438	T	-4.62	0.81431	D	0.495	0.75374	-0.6113	0.64349	T	0.297	0.66877	T	10	0.36548513	0.53066	T	0.04971	0.63932	D	0.552	0.81485	0.359	0.36222	0.778032549235	0.77598	0.38234006120894315	0.38149	0.538818631565	0.51129	0.693682909012	0.66235	T	0.596105	0.86987	D	0.314665	0.84090	D	0.214218	0.83883	D	0.992499530315399	0.82987	D	0.928807	0.74113	D	0.59928584	0.72653	0.6152146	0.77603	0.59928584	0.72654	0.6152146	0.77604	-11.522	0.85925	D	.	.	0.229	0.46813	B	.;.;.;.;.	.;.;.;.;.	4.790931	0.77749	26.8	0.99296630902055139	0.58469	0.96484	0.69368	D	AEFBI	0.735344	0.68119	D	0.363406869849229	0.59450	4.124612	0.455120848957551	0.65044	4.774471	0.999999998755493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.74	5.74	0.90070	5.667000	0.67736	7.894000	0.73204	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.026	0.80343	526	0.73951	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1001.43	33	chr10	31820479	.	T	A	1001.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=0.597;SOR=0.754	GT:AD:DP:GQ:PL	0/1:20,38:58:99:1013,0,449	9	0	1	0
chr10	38010775	38010775	G	A	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon1:c.G22A:p.G8R,ZNF33A:NM_001324178:exon1:c.G22A:p.G8R	.	10	1506	6	0	0	6	0.00198807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000868006559858	.	0.00119808	0.0013	0.0001	0.0002	0	0	0	0	0.0086	0.0009702	150	154602	rs577416013	0.0006	0.0006	0.0003	0.0008	0.0090	0.0005	0.0005	0.0085	0.0083	0	0	0	0	0	0.0005	5.397e-06	0.0004	0.0090	0.0002	0.0002	6.422e-05	0.0004	0.0072	0.0002	0.0001	0.0054	0.0047	0	0	0	0	0	0	0	0	0	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	.	.	.	.	.	.	0.178	0.19190	-0.9513	0.40747	T	0.012	0.04653	T	8	0.0041517615	0.00082	T	8.68E-4	0.00777	T	.	.	0.279	0.23323	0.26547132957	0.26150	.	.	.	.	.	.	.	.	.	.	-0.635266	0.00089	T	-0.678611	0.07068	T	0.012761279293996	0.00216	T	0.273273	0.04638	T	.	.	.	.	.	.	.	.	-2.781	0.08009	T	.	.	0.270	0.50426	B	.	.	0.579339	0.09480	6.256	0.74535391578035903	0.10732	0.02324	0.06658	N	ALL	0.058656	0.11020	N	-1.02524051907295	0.08082	0.3777259	-1.15710591108389	0.06641	0.3203548	0.999999995922159	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	1.31	0.326	0.15150	0.249000	0.17989	0.033000	0.13759	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3696:0.6304:0.0	5.257	0.14870	693	0.58582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	729.43	34	chr10	38010775	.	G	A	729.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.105;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.266;SOR=0.629	GT:AD:DP:GQ:PL	0/1:39,30:69:99:741,0,1060	9	0	1	0
chr10	38054985	38054985	G	T	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.G879T:p.K293N,ZNF33A:NM_001324178:exon4:c.G882T:p.K294N,ZNF33A:NM_001278177:exon5:c.G924T:p.K308N,ZNF33A:NM_001278178:exon5:c.G525T:p.K175N,ZNF33A:NM_001324176:exon5:c.G525T:p.K175N,ZNF33A:NM_006954:exon5:c.G861T:p.K287N,ZNF33A:NM_006974:exon5:c.G858T:p.K286N,ZNF33A:NM_001278171:exon6:c.G525T:p.K175N,ZNF33A:NM_001278173:exon6:c.G915T:p.K305N,ZNF33A:NM_001278174:exon6:c.G525T:p.K175N,ZNF33A:NM_001278175:exon6:c.G627T:p.K209N,ZNF33A:NM_001278176:exon6:c.G732T:p.K244N,ZNF33A:NM_001278179:exon6:c.G525T:p.K175N,ZNF33A:NM_001324175:exon6:c.G525T:p.K175N,ZNF33A:NM_001324177:exon6:c.G525T:p.K175N	.	9	1507	6	0	0	6	0.00198675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	.	0.00159744	0.0015	9.79e-05	0.0002	0	0	0	0	0.0107	0.0012354	191	154602	rs558286901	0.0007	0.0007	0.0003	0.0010	0.0106	0.0006	0.0006	0.0100	0.0098	0	0	0	0	0	0.0007	4.497e-06	0.0006	0.0106	0.0003	0.0003	8.994e-05	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	0	0	0	0	0	0	0	0.0089	0.226	0.32141	T	0.074	0.42976	T	0.877	0.48223	P	0.417	0.44992	B	0.035431	0.24645	N	0.200812	1	0.08975	N	1.385	0.34509	L	1.24	0.36691	T	-2.09	0.56787	N	0.033	0.01740	-0.9844	0.33975	T	0.015	0.05994	T	10	0.0061893165	0.00139	T	.	.	.	0.073	0.21317	0.41	0.44559	0.395595088485	0.39173	0.07833830600797459	0.07769	0.0373431891755	0.03961	0.239627748728	0.02757	T	0.034139	0.23202	T	-0.679047	0.00049	T	-0.738785	0.03942	T	0.0686560278964904	0.08461	T	0.0112989	0.00079	T	0.122145414	0.28709	0.09066567	0.21273	0.122145414	0.28708	0.09066567	0.21273	-4.274	0.27811	T	.	.	0.170	0.37426	B	.;.;.;.;.	.;.;.;.;.	0.998316	0.13765	10.31	0.95523997339935862	0.27146	0.02021	0.06069	N	AEFGBI	0.041186	0.06227	N	-1.01758972000038	0.08239	0.3855891	-1.25697765733014	0.05028	0.2386334	0.841437935648922	0.24874	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.05	-3.37	0.04591	-1.450000	0.02496	-2.356000	0.03857	-0.397000	0.05315	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2686:0.0:0.2678:0.4636	2.202	0.03686	675	0.60470	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	2364.43	34	chr10	38054985	.	G	T	2364.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.451;DP=733;ExcessHet=0;FS=1.667;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-1.361;SOR=0.609	GT:AD:DP:GQ:PL	0/1:121,95:216:99:2376,0,3172	9	0	1	0
chr10	47502586	47502586	G	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.C1543T:p.R515C	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370239470	0.0003	0.0004	0.0003	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	2.998e-05	0.0008	0	2.526e-05	0	0	0.0004	0.0003	1.162e-05	0.0005	0.0005	0.0005	0.0005	0.0025	0.0004	0.0004	0.0018	0.0016	0.0002	0	0.0025	0	0	0	0	0.0004	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	0.47130	T	-7.27	0.94404	D	0.365	0.40665	.	.	.	.	.	.	.	0.013205469	0.00281	T	.	.	.	.	.	.	.	0.572725987618	0.56939	0.06998741299907985	0.06935	.	.	.	.	.	.	.	.	0.128186	0.67183	D	-0.0536467	0.66773	D	.	.	.	0.989957	0.96858	D	.	.	.	.	.	.	.	.	-9.151	0.68664	D	.	.	0.178	0.38818	B	.	.	3.537676	0.49663	22.8	0.64794825470173933	0.07592	0.32125	0.24508	N	AEFI	.	.	.	.	.	.	.	.	.	7.22855857447873E-6	0.01202	0.294411	0.05044	0	0.195528	0.04277	0	0.277913	0.05378	0	0.101684	0.03063	0	0.0891036	0.20137	0.109	0.109	0.13884	2.196000	0.42320	0.773000	0.21413	0.164000	0.17730	1.000000	0.71638	0.001000	0.17328	0.013000	0.09966	6.0E-4:0.0:0.9994:0.0	5.991	0.18695	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3228.43	34	chr10	47502586	.	G	A	3228.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.99;DP=851;ExcessHet=0;FS=6.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.77;MQRankSum=8.61;QD=16.9;ReadPosRankSum=3.19;SOR=0.389	GT:AD:DP:GQ:PL	0/1:73,118:191:99:3240,0,1966	9	0	1	0
chr10	47503387	47503387	T	C	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A742G:p.M248V	.	434	1065	23	0	0	23	0.0106828	.	.	.	2813128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0021	0	0	0	0.0020	0	0	0.0002689	7	26028	rs199638710	0.0001	0.0009	8.468e-05	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	6.036e-05	6.717e-05	0.0009	0	0	0.0007	7.123e-05	0.0002	0.0007	9.451e-05	0.0002	5.273e-05	0.0001	0.0009	5.673e-05	4.479e-05	0.0003	0.0002	0.0001	0	0	0.0006	0	0	0	4.436e-05	0	0.0009	0.132	0.26519	T	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	0.44856	T	-1.24	0.31375	N	0.086	0.06322	.	.	.	.	.	.	.	0.00929603	0.00210	T	.	.	.	.	.	.	.	0.354610295913	0.35065	0.02193780874142853	0.02145	.	.	.	.	.	.	.	.	-0.299579	0.08699	T	-0.196136	0.55012	T	.	.	.	0.675032	0.28342	T	.	.	.	.	.	.	.	.	-3.695	0.19244	T	.	.	0.068	0.02797	B	.	.	1.062155	0.14442	11.01	0.6049860810602804	0.06478	0.49735	0.28501	N	AEFI	.	.	.	.	.	.	.	.	.	6.47738046360823E-5	0.04366	0.294411	0.05044	0	0.195528	0.04277	0	0.277913	0.05378	0	0.101684	0.03063	0	0.588178	0.40606	0.109	0.109	0.13884	1.905000	0.39508	0.541000	0.19334	-1.309000	0.01237	1.000000	0.71638	0.136000	0.23046	0.085000	0.17524	0.0:4.0E-4:0.0:0.9996	4.622	0.11842	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	369.43	34	chr10	47503387	.	T	C	369.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.592;DP=788;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.79;MQRankSum=-2.645;QD=1.8;ReadPosRankSum=0.639;SOR=0.8	GT:AD:DP:GQ:PL	0/1:166,39:205:99:381,0,4209	9	0	1	0
chr10	47503517	47503517	T	G	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A612C:p.K204N	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0	0.0071	0	0	0.0026	0	0	.	.	.	rs1173461793	7.4e-05	0.0002	5.18e-05	9.643e-05	0.0007	6.258e-05	5.816e-05	0.0005	0.0005	0	4.484e-05	0	0	9.381e-05	0	3.78e-05	3.317e-05	0.0007	6.182e-05	7.253e-05	6.68e-05	5.654e-05	0.0002	3.203e-05	2.401e-05	4.819e-05	3.374e-05	0	0	6.848e-05	0	0	0	0	0.0001	0	0.0002	0.459	0.08762	T	0.553	0.09329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74	0.11730	T	-0.79	0.21860	N	0.094	0.07398	.	.	.	.	.	.	.	0.0052042603	0.00113	T	.	.	.	.	.	.	.	0.159798565429	0.15598	0.0035491949411939647	0.00331	.	.	.	.	.	.	.	.	-0.0515163	0.44216	T	-0.311776	0.43467	T	.	.	.	0.607439	0.22904	T	.	.	.	.	.	.	.	.	-3.565	0.17353	T	.	.	0.147	0.32372	B	.	.	0.585376	0.09539	6.315	0.14660683202980249	0.00331	0.01719	0.05448	N	AEFI	.	.	.	.	.	.	.	.	.	3.63124987450781E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.101684	0.03063	0	0.0852691	0.19417	0.109	-0.218	0.12495	-0.200000	0.09480	-10.652000	0.00679	0.142000	0.17677	0.998000	0.41325	0.000000	0.08366	0.005000	0.06747	0.0:0.3273:0.3353:0.3374	2.177	0.03628	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	97.43	34	chr10	47503517	.	T	G	97.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.43;DP=475;ExcessHet=0;FS=2.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.81;MQRankSum=0.603;QD=0.86;ReadPosRankSum=-2.163;SOR=1.078	GT:AD:DP:GQ:PL	0/1:98,15:113:99:109,0,2478	9	0	1	0
chr10	47762985	47762985	G	A	exonic	LOC102724488	.	nonsynonymous SNV	LOC102724488:NM_001370182:exon1:c.C20T:p.P7L	.	423	1042	52	5	0	62	0.028891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274217361	0.0100	0.0090	0.0095	0.0105	0.0352	0.0098	0.0097	0.0339	0.0333	0.0008	0.0039	0.0053	0.0001	0.0027	0.0210	0.0092	0.0095	0.0352	0.0067	0.0068	0.0066	0.0068	0.0332	0.0064	0.0062	0.0290	0.0274	0.0016	0.0197	0.0031	0.0066	0.0008	0.0018	0.0069	0.0098	0.0062	0.0332	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-0.9927	0.31906	T	0.027	0.11529	T	5	0.0038524568	0.00073	T	.	.	.	.	.	.	.	0.141422826196	0.13715	.	.	.	.	.	.	.	.	.	.	-0.602763	0.00140	T	-0.619679	0.11211	T	0.00701992962231316	0.00080	T	0.442056	0.12263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47923	B	.	.	0.550080	0.09184	5.969	0.97470783630290847	0.34136	0.02197	0.06416	N	AEFDBCI	.	.	.	-0.557036156197848	0.20264	1.066943	-0.754943317959088	0.15601	0.8213311	0.999999664354138	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	1.65	1.65	0.23015	0.145000	0.15978	-0.515000	0.08723	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	0.0:0.0:1.0:0.0	6.756	0.22703	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	401.43	36	chr10	47762985	.	G	A	401.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.919;DP=281;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=45.83;MQRankSum=-5.162;QD=7.57;ReadPosRankSum=0.408;SOR=0.853	GT:AD:DP:GQ:PL	0/1:34,19:53:99:413,0,834	9	0	1	0
chr10	49933321	49933321	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G803A:p.R268H,PARG:NM_001303486:exon3:c.G881A:p.R294H,PARG:NM_001324381:exon3:c.G881A:p.R294H,PARG:NM_003631:exon3:c.G1127A:p.R376H	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	78.43	34	chr10	49933321	.	C	T	78.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.78;DP=710;ExcessHet=0;FS=52.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.02;MQRankSum=-8.423;QD=0.37;ReadPosRankSum=0.573;SOR=5.875	GT:AD:DP:GQ:PL	0/1:189,23:212:90:90,0,4943	9	0	1	0
chr10	70266179	70266179	T	C	exonic	NPFFR1	.	nonsynonymous SNV	NPFFR1:NM_022146:exon2:c.A220G:p.M74V	.	.	.	.	.	.	.	.	.	.	.	4028464	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.642	0.131797157061	.	.	1.657e-05	0	0	0	0	0	0.0011	6.057e-05	1.29e-05	2	154602	rs753490342	4.105e-06	4.104e-06	2.723e-06	5.501e-06	6.956e-05	1.48e-06	9.7e-07	2.995e-05	2.038e-05	0	0	0	0	0	0	0	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.995	0.85803	M	1.16	0.38073	T	-3.48	0.67941	D	0.896	0.89577	-0.3235	0.74324	T	0.286	0.65773	T	10	0.9594712	0.95339	D	0.131797	0.81407	D	0.642	0.86384	0.828	0.93851	0.823129003882	0.82145	0.9201962218175436	0.91995	0.462265004713	0.45762	0.489400327206	0.37355	T	0.107293	0.41938	T	-0.0073004	0.50642	T	0.0114161	0.71074	D	0.9383624792099	0.60892	D	0.818618	0.47570	T	0.9440528	0.95661	0.96208537	0.99083	0.9440528	0.95661	0.96208537	0.99083	-14.323	0.94059	D	.	.	0.574	0.67819	P	.	.	4.166870	0.62622	24.5	0.99280079479293515	0.57869	0.97589	0.75744	D	AEFDGBI	0.917681	0.88565	D	0.748055026398018	0.82779	7.847458	0.650161282544892	0.78624	6.913548	0.999999999996864	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.05	5.05	0.67566	7.990000	0.87862	4.074000	0.41688	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.0:1.0	13.609	0.61536	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1640.43	34	chr10	70266179	.	T	C	1640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.857;DP=480;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.441;SOR=0.645	GT:AD:DP:GQ:PL	0/1:95,72:167:99:1652,0,2515	9	0	1	0
chr10	77637586	77637586	-	CCGCCG	exonic	KCNMA1	.	nonframeshift insertion	KCNMA1:NM_001014797:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001161352:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001161353:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001271518:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001271519:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001271520:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001271521:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001271522:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322829:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322830:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322832:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322835:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322836:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322837:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322839:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_002247:exon1:c.56_57insCGGCGG:p.G20_S21insGG	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	639177	not_provided|Generalized_epilepsy-paroxysmal_dyskinesia_syndrome|Epilepsy,_idiopathic_generalized,_susceptibility_to,_16	MedGen:C3661900|MONDO:MONDO:0012276,MedGen:C5574945,OMIM:609446,Orphanet:79137|MONDO:MONDO:0032827,MedGen:C5231421,OMIM:618596	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	9.911e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs760628050	0.0001	0.0001	0.0001	9.742e-05	0.0002	8.656e-05	8.141e-05	0.0001	7.803e-05	0.0002	2.883e-05	0	2.841e-05	0	0.0002	9.99e-05	0.0002	8.978e-05	9.265e-05	9.873e-05	0.0001	8.134e-05	0.0002	5.566e-05	4.394e-05	7.946e-05	5.623e-05	0.0002	0	0.0002	0	0	0	0	5.912e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1242.39	33	chr10	77637586	.	T	TCCGCCG	1242.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.579;DP=386;ExcessHet=0;FS=1.059;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.8;ReadPosRankSum=-0.483;SOR=0.951	GT:AD:DP:GQ:PL	0/1:25,32:57:99:1254,0,937	9	0	1	0
chr10	79710486	79710486	-	AGAG	exonic	NUTM2B	.	frameshift insertion	NUTM2B:NM_001278495:exon5:c.1456_1457insAGAG:p.H486Qfs*26	.	509	1009	4	0	0	4	0.00197824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1419361721	0.0049	0.0067	0.0050	0.0049	0.0054	0.0048	0.0048	0.0053	0.0053	0.0010	0.0019	0.0077	2.65e-05	0.0097	0.0020	0.0054	0.0048	0.0003	0.0046	0.0057	0.0046	0.0046	0.0064	0.0043	0.0042	0.0059	0.0057	0.0012	0.0156	0.0029	0.0070	0	0.0110	0	0.0064	0.0039	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	120.4	16	chr10	79710486	.	C	CAGAG	120.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.629;DP=165;ExcessHet=0;FS=0;InbreedingCoeff=-0.0535;MLEAC=1;MLEAF=0.05;MQ=29.02;MQRankSum=0.065;QD=7.53;ReadPosRankSum=-0.426;SOR=0.138	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,4:16:99:0|1:79710486_C_CAGAG:132,0,492:79710486	9	0	1	0
chr10	79710490	79710493	GGCG	-	exonic	NUTM2B	.	frameshift deletion	NUTM2B:NM_001278495:exon5:c.1460_1463del:p.R487Qfs*60	.	515	1003	4	0	0	4	0.00199005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1446451845	0.0046	0.0067	0.0047	0.0045	0.0050	0.0045	0.0045	0.0049	0.0049	0.0009	0.0019	0.0075	2.656e-05	0.0095	0.0020	0.0050	0.0046	0.0003	0.0045	0.0057	0.0045	0.0045	0.0063	0.0042	0.0041	0.0058	0.0056	0.0012	0.0167	0.0027	0.0071	0	0.0110	0	0.0063	0.0039	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	120.4	16	chr10	79710489	.	CGGCG	C	120.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=166;ExcessHet=0;FS=0;InbreedingCoeff=-0.0535;MLEAC=1;MLEAF=0.05;MQ=29.02;MQRankSum=0.065;QD=7.53;ReadPosRankSum=-0.364;SOR=0.138	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,4:16:99:0|1:79710486_C_CAGAG:132,0,492:79710486	9	0	1	0
chr10	96157338	96157338	G	A	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.G1016A:p.R339K,ZNF518A:NM_001330732:exon6:c.G1016A:p.R339K,ZNF518A:NM_001330735:exon6:c.G1016A:p.R339K,ZNF518A:NM_001330736:exon6:c.G1016A:p.R339K,ZNF518A:NM_014803:exon6:c.G1016A:p.R339K,ZNF518A:NM_001278524:exon7:c.G1016A:p.R339K,ZNF518A:NM_001330733:exon7:c.G1016A:p.R339K,ZNF518A:NM_001330734:exon7:c.G1016A:p.R339K,ZNF518A:NM_001330737:exon7:c.G1016A:p.R339K,ZNF518A:NM_001330738:exon7:c.G1016A:p.R339K	.	429	1088	5	0	0	5	0.00229253	.	.	.	2717011	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	8.4e-05	0.000599042	0.0002	0	0.0001	0.0003	0	6.873e-05	0	0.0011	0.000194	30	154602	rs188872865	0.0001	0.0001	9.272e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	4.533e-05	0	0	0	0.0014	4.323e-05	0.0001	0.0016	9.194e-05	9.187e-05	5.14e-05	0.0001	0.0010	5.525e-05	4.362e-05	0.0004	0.0003	0	0	6.54e-05	0	0.0004	0	0.0034	5.882e-05	0.0005	0.0010	.	.	.	0.985	0.02393	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	.	.	.	1.87	0.49600	L	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	0.0064787567	0.00147	T	.	.	.	.	.	.	.	0.115124310173	0.11017	0.12027581564253458	0.11954	.	.	0.245744362473	0.03333	T	0.00604	0.05478	T	-0.399745	0.02324	T	-0.387516	0.34843	T	.	.	.	0.533947	0.17813	T	0.04657938	0.07821	0.16810313	0.38745	0.04657938	0.07820	0.16810313	0.38744	-1.763	0.02401	T	.	.	0.082	0.08657	B	.;.;.	.;.;.	-0.098380	0.03650	0.730	0.74801978430640648	0.10832	0.10501	0.15990	N	AEFGBI	.	.	.	.	.	.	.	.	.	7.13287846729681E-4	0.07685	0.295142	0.05270	0	0.30413	0.05452	0	0.231597	0.04857	0	0.221052	0.04502	0	0.162992	0.28318	5.93	1.37	0.21200	-0.049000	0.11879	0.458000	0.18589	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.943000	0.48514	0.4404:0.0:0.5596:0.0	8.831	0.34239	517	0.74620	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	1735.43	33	chr10	96157338	.	G	A	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.064;SOR=0.662	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1747,0,1608	9	0	1	0
chr10	96623514	96623514	G	A	exonic	PIK3AP1	.	nonsynonymous SNV	PIK3AP1:NM_152309:exon11:c.C1693T:p.R565W	.	438	1079	5	0	0	5	0.0023116	.	.	.	692911	Infantile_spasms	Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.028576938796	.	0.000199681	0.0003	0	8.645e-05	0	0	2.999e-05	0.0011	0.0017	0.0002199	34	154602	rs534613715	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	2.992e-05	0	0	0	0	0.0012	0.0002	0.0002	0.0019	0.0001	0.0001	7.712e-05	0.0002	0.0023	9.148e-05	7.703e-05	0.0013	0.0010	9.63e-05	0	0	0	0	0	0	8.823e-05	0	0.0023	0.001	0.91255	D	0.007	0.72224	D	0.999	0.90584	D	0.781	0.63631	P	0.014501	0.28512	N	0.344140	0.613328	0.30842	N	2.36	0.67893	M	2.73	0.26885	T	-4.31	0.81910	D	0.342	0.40565	-0.8193	0.53978	T	0.120	0.41929	T	10	0.023924619	0.00641	T	0.028577	0.51232	D	0.112	0.31546	.	.	0.305926609036	0.30200	0.39452051364967033	0.39367	1.48383401815	0.86761	0.363538324833	0.19899	T	0.622986	0.88210	D	-0.359604	0.04152	T	-0.296587	0.45085	T	0.17279497083329	0.18768	T	0.937606	0.76517	D	0.2117713	0.43511	0.29478866	0.55510	0.2117713	0.43511	0.29478866	0.55509	-6.917	0.53639	T	.	.	0.121	0.33481	B	.;.;.	.;.;.	4.681451	0.74923	26.2	0.99919163140327605	0.98654	0.78057	0.38456	D	AEFBI	0.556189	0.56632	D	0.419245068580918	0.62481	4.464696	0.389217231738397	0.60899	4.282919	0.960218740911834	0.28475	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.59	3.61	0.40494	2.474000	0.44812	2.717000	0.34282	0.618000	0.50648	0.980000	0.35271	0.189000	0.23482	0.997000	0.79791	0.0:0.0:0.576:0.4239	12.613	0.55917	580	0.69689	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.007576	0.05	802.43	33	chr10	96623514	.	G	A	802.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.044;DP=407;ExcessHet=0;FS=0.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=0.481;SOR=0.793	GT:AD:DP:GQ:PL	0/1:55,38:93:99:814,0,1271	9	0	1	0
chr10	97334484	97334484	T	C	exonic	FRAT2	.	nonsynonymous SNV	FRAT2:NM_012083:exon1:c.A89G:p.Q30R	.	382	1138	2	0	0	2	0.000877963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.528424917247	.	.	8.122e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs748305085	1.342e-05	1.573e-05	5.883e-06	2.116e-05	3.971e-05	8.39e-06	6.92e-06	1.055e-05	6.74e-06	0	0	0	0	0	0	1.417e-05	0	3.971e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.086	0.40909	T	0.992	0.64738	D	0.84	0.60170	P	0.000014	0.62929	U	0.000000	0.563776	0.32235	D	2.65	0.77586	M	.	.	.	-2.68	0.57275	D	0.214	0.23884	-0.3391	0.73870	T	0.263	0.63458	T	9	0.4654104	0.59539	T	0.528425	0.95552	D	0.191	0.46948	0.703	0.83962	0.110392049598	0.10638	0.12289492868711116	0.12215	2.11051116609	0.94935	0.887965917587	0.95004	D	0.34461	0.71310	T	-0.0149757	0.49565	T	-0.259288	0.48895	T	0.927552103996277	0.59048	D	0.652935	0.26315	T	0.3780947	0.59178	0.31148502	0.57155	0.3780947	0.59179	0.31148502	0.57154	-2.747	0.07706	T	.	.	0.292	0.52326	B	.	.	3.797264	0.54692	23.5	0.99700662117402428	0.80591	0.87718	0.47352	D	ALL	0.228563	0.35222	N	0.32259727751252	0.57309	3.897874	0.239552862423394	0.52057	3.383241	0.999999999998071	0.74766	0.733237	0.96898	0	0.484254	0.07192	0	0.600757	0.32118	0	0.492483	0.08430	1	.	.	3.69	3.69	0.41483	1.545000	0.35775	1.698000	0.28113	0.513000	0.23382	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	10.583	0.44459	514	0.74853	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	534.43	33	chr10	97334484	.	T	C	534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.314;DP=379;ExcessHet=0;FS=2.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.72;MQRankSum=0;QD=8.35;ReadPosRankSum=-0.957;SOR=1.019	GT:AD:DP:GQ:PL	0/1:38,26:64:99:546,0,980	9	0	1	0
chr10	98459735	98459735	C	G	exonic	HPSE2	.	nonsynonymous SNV	HPSE2:NM_001166245:exon10:c.G1282C:p.V428L,HPSE2:NM_001166244:exon11:c.G1444C:p.V482L,HPSE2:NM_021828:exon12:c.G1618C:p.V540L	Urofacial syndrome 1, Autosomal recessive	3	1505	14	0	0	14	0.00462963	.	.	.	724146	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.549	0.115942360711	0.0034	0.00139776	0.0037	0.0005	0.0023	0.0001	0.0036	0.0046	0.0064	0.0045	0.0033117	512	154602	rs140066668	0.0038	0.0038	0.0039	0.0038	0.0042	0.0037	0.0037	0.0041	0.0040	0.0005	0.0023	0.0016	0	0.0039	0.0028	0.0042	0.0037	0.0042	0.0026	0.0026	0.0026	0.0026	0.0045	0.0024	0.0023	0.0040	0.0039	0.0004	0	0.0012	0.0026	0.0002	0.0027	0	0.0045	0.0019	0.0021	0.004	0.68238	D	0.008	0.67890	D	0.984	0.63424	D	0.956	0.74843	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	-0.29	0.67712	T	-2.36	0.52128	N	0.72	0.76111	-0.0558	0.81083	T	0.435	0.77529	T	10	0.011920303	0.00259	T	0.115942	0.79528	D	0.549	0.81310	0.691	0.82843	0.71374881326	0.71124	0.7369415546005129	0.73639	0.662004393039	0.58951	0.722848176956	0.70462	T	0.372921	0.73701	T	0.00705562	0.52624	T	0.238863	0.85098	D	0.0296729125005479	0.01939	T	0.941406	0.78138	D	0.52032197	0.68278	0.47738644	0.69722	0.4818406	0.66013	0.48557222	0.70225	-8.889	0.68968	D	.	.	0.462	0.62806	A	.;.;.;.	.;.;.;.	4.604956	0.72972	25.9	0.99839792153786977	0.92057	0.94057	0.59983	D	AEFDGBHCI	0.829623	0.74850	D	0.802398648605398	0.86256	8.827167	0.774242232282881	0.87950	9.40335	1.0	0.98316	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	5.712000	0.68059	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.431	0.94757	818	0.41518	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	1041.43	61	chr10	98459735	.	C	G	1041.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.322;DP=481;ExcessHet=0;FS=3.421;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.67;SOR=0.335	GT:AD:DP:GQ:PL	0/1:30,41:71:99:1053,0,825	9	0	1	0
chr10	100220598	100220598	A	G	exonic	CHUK	.	nonsynonymous SNV	CHUK:NM_001278:exon5:c.T464C:p.V155A,CHUK:NM_001320928:exon5:c.T464C:p.V155A	Cocoon syndrome	9	1467	42	4	0	50	0.016756	.	.	.	1278497	not_provided|CHUK-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.133	.	0.0010	0.0207668	0.0126	0.0004	0.0023	0.0580	0	0.0017	0.0088	0.0534	0.0112741	1743	154602	rs2230803	0.0057	0.0057	0.0044	0.0071	0.0552	0.0056	0.0056	0.0533	0.0525	0.0004	0.0013	0.0067	0.0552	5.63e-05	0.0082	0.0009	0.0090	0.0496	0.0050	0.0050	0.0040	0.0061	0.0592	0.0047	0.0046	0.0538	0.0516	0.0006	0.0022	0.0022	0.0078	0.0592	0	0.0068	0.0014	0.0061	0.0539	1.0	0.00964	T	0.751	0.04790	T	0.001	0.07471	B	0.005	0.11217	B	0.013895	0.28700	N	0.360137	0.529365	0.31504	N	0.715	0.18665	N	-0.1	0.64264	T	0.18	0.05035	N	0.064	0.03613	-1.0512	0.14064	T	0.011	0.04321	T	10	0.0019171834	0.00026	T	.	.	.	0.133	0.36157	.	.	.	.	0.3774204968572709	0.37657	0.672962783049	0.59561	0.488521426916	0.37233	T	0.066124	0.32865	T	-0.498435	0.00583	T	-0.437693	0.29068	T	0.00267601300508277	0.00028	T	0.539346	0.18229	T	0.03628747	0.04434	0.03791049	0.03543	0.03628747	0.04433	0.03791049	0.03543	-4.96	0.36403	T	.	.	0.083	0.09336	B	.	.	1.222298	0.16164	12.36	0.24233075997388187	0.01062	0.90637	0.51979	D	AEFBI	0.298826	0.40804	N	-0.737328779990361	0.14979	0.7509123	-0.481896636289056	0.22652	1.231441	0.853176855870355	0.25083	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.85	4.72	0.59248	2.650000	0.46329	3.530000	0.38948	-0.056000	0.16711	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.9151:0.0:0.0849:0.0	8.846	0.34329	820	0.40914	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.005051	0.005435	0.002924	0.000000	0.017241	0.015244	0.018939	0.05	1045.43	33	chr10	100220598	.	A	G	1045.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=409;ExcessHet=0;FS=1.762;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=1.63;SOR=0.59	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1057,0,1088	9	0	1	0
chr10	100291342	100291342	T	C	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon12:c.A1825G:p.K609E,PKD2L1:NM_016112:exon12:c.A1966G:p.K656E	.	436	1047	36	3	0	42	0.0196629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0009	0.0209665	0.0126	0.0004	0.0022	0.0580	0	0.0017	0.0088	0.0536	0.0112806	1744	154602	rs79568268	0.0058	0.0058	0.0044	0.0071	0.0558	0.0056	0.0056	0.0539	0.0531	0.0005	0.0013	0.0067	0.0558	5.617e-05	0.0083	0.0009	0.0089	0.0499	0.0050	0.0050	0.0040	0.0061	0.0591	0.0047	0.0046	0.0536	0.0515	0.0005	0.0022	0.0022	0.0078	0.0591	0	0.0068	0.0014	0.0061	0.0546	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000825	0.41547	N	0.271399	0.989172	0.25819	N	0.535	0.13693	N	-0.27	0.67367	T	1.0	0.01408	N	0.097	0.07811	-1.0650	0.10549	T	0.013	0.05033	T	10	0.0017721057	0.00023	T	.	.	.	0.050	0.13987	.	.	.	.	0.09170445828702709	0.09103	0.0931337591576	0.10522	0.276419073343	0.06999	T	0.008844	0.08094	T	-0.539104	0.00339	T	-0.49611	0.22751	T	0.000323396377168035	0.00003	T	0.763824	0.39073	T	0.04916066	0.08687	0.068521455	0.14320	0.04916066	0.08686	0.068521455	0.14320	-4.012	0.23983	T	.	.	0.062	0.01290	B	.	.	1.637626	0.20906	14.96	0.5622660041134101	0.05507	0.66007	0.32930	D	AEFDBCI	0.262862	0.38052	N	-0.76563726123605	0.14212	0.7061358	-0.5879741580489	0.19806	1.064319	0.999983876331531	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.82	2.16	0.26663	1.080000	0.30390	2.764000	0.34625	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.088000	0.17685	0.0:0.5298:0.0:0.4702	6.369	0.20676	815	0.41851	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011122	0.005051	0.005435	0.002924	0.000000	0.017241	0.018519	0.018939	0.05	1922.43	33	chr10	100291342	.	T	C	1922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.445;DP=507;ExcessHet=0;FS=5.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.36;SOR=0.399	GT:AD:DP:GQ:PL	0/1:83,78:161:99:1934,0,2066	9	0	1	0
chr10	101010658	101010658	C	T	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon15:c.G2231A:p.R744Q	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	4	1508	8	2	0	12	0.00396301	.	.	.	654566	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.044	.	.	0.00419329	0.0246	0.0063	0	0	.	0.0008	0	0.0371	0.0010543	163	154602	rs547610251	0.0011	0.0010	0.0006	0.0016	0.0194	0.0011	0.0010	0.0185	0.0182	6.605e-05	3.14e-05	0	3.001e-05	0	0.0015	2.694e-05	0.0012	0.0194	0.0009	0.0008	0.0003	0.0015	0.0250	0.0007	0.0007	0.0209	0.0193	7.037e-05	0	0	0	0	0	0	7.383e-05	0	0.0250	.	.	.	0.541	0.09725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.09207	-1.0310	0.20131	T	0.107	0.39003	T	6	0.0038311481	0.00072	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.295615704741089	0.29474	.	.	0.507544219494	0.39879	T	.	.	.	-0.485126	0.00691	T	-0.452707	0.27398	T	0.0372018343190578	0.03191	T	0.540346	0.18307	T	0.049388196	0.08760	0.08228831	0.18768	0.06877283	0.15009	0.07478913	0.16396	-4.01	0.23953	T	0.1322206610227776	0.14078	0.092	0.13597	B	.;.	.;.	1.488358	0.19152	14.12	0.64691380618565664	0.07564	0.25809	0.22809	N	AEFBI	.	.	.	-0.514614480550069	0.21607	1.147921	-0.498005003382714	0.22209	1.20516	0.999981340669412	0.51787	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.754282	0.44799	5.54	4.64	0.57399	0.394000	0.20559	3.243000	0.36978	-0.283000	0.06393	0.221000	0.24547	0.927000	0.28453	0.003000	0.05239	0.0:0.7769:0.1449:0.0782	9.272	0.36840	556	0.71678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1184.43	42	chr10	101010658	.	C	T	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.88;DP=521;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.758;SOR=0.693	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1196,0,1129	9	0	1	0
chr10	104358459	104358459	A	G	exonic	CFAP58	.	nonsynonymous SNV	CFAP58:NM_001008723:exon2:c.A128G:p.Y43C	.	433	1075	13	1	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	.	7.7e-05	0.00259585	0.0017	9.804e-05	0.0003	0.0001	0	0.0001	0.0011	0.0114	0.0014101	218	154602	rs368634585	0.0008	0.0008	0.0005	0.0011	0.0119	0.0008	0.0007	0.0113	0.0110	0	0.0002	0	2.519e-05	0	0.0016	5.576e-05	0.0008	0.0119	0.0003	0.0003	0.0002	0.0005	0.0089	0.0003	0.0002	0.0068	0.0061	0	0	0.0002	0	0	0	0	5.881e-05	0	0.0089	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000009	0.62929	D	0.114128	0.999991	0.81001	D	.	.	.	0.24	0.59583	T	-8.17	0.96779	D	0.883	0.88137	0.166	0.85336	D	0.488	0.80515	T	10	0.015150338	0.00318	T	.	.	.	0.534	0.80426	.	.	0.484182897458	0.48051	0.761750114499266	0.76123	0.311889514168	0.33491	0.728229939938	0.71248	T	0.311709	0.68358	T	-0.0048353	0.50985	T	0.229673	0.84653	D	0.213273793058904	0.21123	T	0.919108	0.70849	D	0.8232791	0.85442	0.8305938	0.90223	0.8232791	0.85443	0.8305938	0.90224	-10.999	0.79653	D	.	.	0.846	0.79542	P	.	.	4.738330	0.76383	26.5	0.99840437554188732	0.92057	0.96648	0.70202	D	AEFI	0.843372	0.76041	D	0.888156312809238	0.91168	10.74845	0.821724997600397	0.91261	10.79824	0.999986608286928	0.51787	0.549168	0.22868	0	0.610034	0.51514	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.57	5.57	0.84021	6.006000	0.70384	9.266000	0.79598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.035	0.80419	130	0.94779	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.011364	0.05	1078.43	34	chr10	104358459	.	A	G	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.805;DP=402;ExcessHet=0;FS=2.969;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=2.06;SOR=1.112	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1090,0,917	9	0	1	0
chr10	105214552	105214552	C	A	exonic	SORCS3	.	nonsynonymous SNV	SORCS3:NM_014978:exon18:c.C2486A:p.T829N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0211153266634	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049219004	2.056e-06	2.052e-06	1.364e-06	2.756e-06	9.002e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	9.002e-07	3.319e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.08813	T	0.479	0.11933	T	0.271	0.31796	B	0.158	0.34617	B	0.104165	0.19715	N	0.516189	1	0.08975	N	0.345	0.11182	N	0.18	0.60361	T	-0.49	0.15578	N	0.245	0.27673	-1.0533	0.13493	T	0.079	0.31284	T	9	0.08132401	0.13300	T	0.021115	0.43839	T	0.044	0.11924	0.449	0.50957	0.464014491786	0.46025	0.6047035298714256	0.60401	0.387281543766	0.40007	0.470552563667	0.34755	T	0.021706	0.16859	T	-0.243631	0.14890	T	-0.587736	0.13863	T	0.110513904560129	0.13476	T	0.652235	0.26282	T	0.05610791	0.10994	0.05256115	0.08682	0.05610791	0.10994	0.05256115	0.08681	-7.409	0.56968	T	.	.	0.066	0.02285	B	.;.	.;.	2.595412	0.33679	19.41	0.94284610983765116	0.24582	0.09461	0.15211	N	AEFI	0.091106	0.18457	N	-0.613313705313918	0.18542	0.9635743	-0.548681684233471	0.20841	1.124714	1.9227982636372E-4	0.05898	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.89	2.54	0.29674	1.369000	0.33832	3.434000	0.38335	0.597000	0.34315	0.002000	0.15269	0.998000	0.33993	0.972000	0.54974	0.1166:0.5722:0.1141:0.1971	4.304	0.10384	159	0.93837	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	883.43	38	chr10	105214552	.	C	A	883.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.37;DP=463;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=-1.07;SOR=0.794	GT:AD:DP:GQ:PL	0/1:71,41:112:99:895,0,1667	9	0	1	0
chr10	114288964	114288964	G	A	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon12:c.G1597A:p.V533I,VWA2:NM_001320804:exon12:c.G1597A:p.V533I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0384220636244	.	.	7.698e-05	0.0003	0	0	0.0003	1.526e-05	0	0.0002	5.82e-05	9	154602	rs764526217	3.493e-05	3.489e-05	3.133e-05	3.856e-05	0.0003	2.7e-05	2.441e-05	0.0001	0.0001	0.0003	0	7.689e-05	0	0.0002	0	1.08e-05	3.316e-05	0.0002	0.0001	0.0001	7.708e-05	0.0001	0.0003	6.513e-05	5.324e-05	0.0001	0.0001	0.0003	0	0	0	0	0.0002	0	2.94e-05	0	0.0002	0.039	0.42487	D	0.032	0.53426	D	0.3	0.32550	B	0.072	0.31539	B	0.001643	0.38382	N	0.218004	0.934649	0.26964	N	2.45	0.71042	M	-2.05	0.85799	D	-0.64	0.18670	N	0.216	0.24135	-0.5173	0.68015	T	0.470	0.79610	T	10	0.19865465	0.35844	T	0.038422	0.58216	D	0.321	0.64318	.	.	0.143124449307	0.13826	0.3345963116267219	0.33372	0.114344148871	0.12892	0.317299723625	0.13012	T	0.048792	0.28119	T	-0.294809	0.09159	T	-0.365057	0.37467	T	0.0687334796686032	0.08472	T	0.654634	0.26482	T	0.029482506	0.02450	0.05786791	0.10597	0.029482506	0.02450	0.05786791	0.10596	-8.284	0.62988	D	0.19796148420991905	0.26198	0.095	0.15115	B	.;.	.;.	2.108971	0.26836	17.26	0.97291032757653839	0.33233	0.86549	0.45852	D	AEFDBCI	0.367295	0.45480	N	-0.358288176454792	0.26969	1.47601	-0.314541418182612	0.27628	1.534456	0.607731468410432	0.21778	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.43	2.57	0.29928	4.217000	0.58344	3.313000	0.37480	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.311000	0.24761	0.1493:0.1371:0.7136:0.0	7.373	0.25986	632	0.64850	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1858.43	34	chr10	114288964	.	G	A	1858.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=496;ExcessHet=0;FS=1.264;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.976;SOR=0.805	GT:AD:DP:GQ:PL	0/1:81,74:155:99:1870,0,1938	9	0	1	0
chr10	116626065	116626065	G	A	exonic	PNLIPRP2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.136719357756	.	0.000399361	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs534571957	5.748e-05	5.814e-05	4.085e-05	7.429e-05	0.0009	4.744e-05	4.367e-05	0.0007	0.0007	2.987e-05	0	0	0	0	0.0003	8.995e-07	6.627e-05	0.0009	5.909e-05	5.906e-05	2.57e-05	9.401e-05	0.0019	3.075e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	.	.	.	.	.	.	0.047	0.21998	B	0.065	0.27321	B	0.005418	0.32823	N	0.246012	0.570742	0.31180	N	.	.	.	-2.64	0.90147	D	.	.	.	0.208	0.28146	0.098	0.84129	D	0.640	0.87415	D	9	0.06265643	0.08043	T	0.136719	0.81921	D	.	.	0.602	0.73346	0.778831366137	0.77679	.	.	.	.	0.446976602077	0.31532	T	0.078059	0.87558	T	-0.0458669	0.45074	T	0.0571331	0.74054	D	0.551691949367523	0.34541	D	0.643636	0.25529	T	0.4852692	0.66219	0.5667859	0.74923	0.4852692	0.66219	0.5667859	0.74924	-5.338	0.40318	T	.	.	0.277	0.51059	B	.;.	.;.	2.324282	0.29769	18.23	0.71612935758230001	0.09688	0.94049	0.59959	D	AEFDBI	0.766403	0.70259	D	0.0630338263826961	0.44744	2.742922	0.225695674681507	0.51277	3.311705	0.99999993446864	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.056003	0.00319	0	0.062806	0.01542	0	.	.	5.86	5.86	0.93936	4.082000	0.57357	3.976000	0.40865	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:0.0:1.0:0.0	19.334	0.94294	609	0.67094	Lipase/vitellogenin|Lipase, N-terminal;Lipase/vitellogenin|Lipase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1709.43	34	chr10	116626065	.	G	A	1709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.226;DP=464;ExcessHet=0;FS=6.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.913;SOR=0.51	GT:AD:DP:GQ:PL	0/1:80,77:157:99:1721,0,1848	9	0	1	0
chr10	116954207	116954207	T	G	exonic	SHTN1	.	nonsynonymous SNV	SHTN1:NM_001258298:exon4:c.A91C:p.N31H,SHTN1:NM_001127211:exon5:c.A271C:p.N91H,SHTN1:NM_001258299:exon5:c.A271C:p.N91H,SHTN1:NM_018330:exon5:c.A271C:p.N91H,SHTN1:NM_001258300:exon6:c.A91C:p.N31H	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.29008733691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.59928	T	0.109	0.54159	T	0.999	0.90584	D	0.996	0.86255	D	0.000000	0.84330	D	0.000000	0.99953	0.47451	D	2.39	0.68882	M	-2.86	0.91533	D	-0.55	0.32991	N	0.838	0.84505	0.639	0.92402	D	0.832	0.94352	D	10	0.72045213	0.73627	D	0.290087	0.90533	D	0.389	0.70521	0.133	0.03747	0.756603776641	0.75439	0.40388825984333576	0.40304	1.27036212804	0.82256	0.823461413383	0.85559	D	0.143591	0.47978	T	0.150004	0.69268	D	-0.0223061	0.68877	D	0.833291908681574	0.48788	D	0.927907	0.75038	D	0.25162432	0.48172	0.24572617	0.50067	0.25162432	0.48172	0.24572617	0.50066	-10.494	0.79510	D	.	.	0.192	0.41280	B	.;.;.;.;.	.;.;.;.;.	4.402796	0.68047	25.2	0.99630241629271443	0.76020	0.96522	0.69560	D	AEBI	0.691429	0.65142	D	0.635551171276434	0.75435	6.305633	0.640993963762875	0.77941	6.777393	0.999999974485235	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	6.108000	0.71192	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.178	0.81689	612	0.66786	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	953.43	36	chr10	116954207	.	T	G	953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.847;DP=349;ExcessHet=0;FS=3.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-0.104;SOR=1.552	GT:AD:DP:GQ:PL	0/1:18,31:49:99:965,0,407	9	0	1	0
chr10	122461685	122461685	-	T	exonic	HTRA1	.	frameshift insertion	HTRA1:NM_002775:exon1:c.33_34insT:p.L12Sfs*157	CARASIL syndrome, Autosomal recessive;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, Autosomal dominant	8	217	1	0	0	1	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0189	0	0	0	0	3.84e-05	1	26028	rs541533723	0.0009	0.0011	0.0009	0.0009	0.0314	0.0009	0.0008	0.0291	0.0282	0	0.0001	0	0.0314	0.0093	0.0003	0.0002	0.0026	0.0001	0.0018	0.0019	0.0013	0.0024	0.0277	0.0017	0.0016	0.0240	0.0226	4.866e-05	0	0.0003	0	0.0277	0.0104	0	0.0005	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	213.59	20	chr10	122461685	.	G	GT	213.59	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.524;DP=117;ExcessHet=0;FS=0;InbreedingCoeff=-0.0678;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.984;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,6:15:99:0|1:122461685_G_GT:225,0,360:122461685	9	0	1	0
chr10	122461686	122461686	-	CT	exonic	HTRA1	.	frameshift insertion	HTRA1:NM_002775:exon1:c.34_35insCT:p.L12Pfs*204	CARASIL syndrome, Autosomal recessive;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, Autosomal dominant	8	217	1	0	0	1	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0189	0	0	0	0	3.84e-05	1	26028	rs552775933	0.0009	0.0011	0.0009	0.0009	0.0314	0.0009	0.0008	0.0292	0.0283	0	0.0001	0	0.0314	0.0093	0.0003	0.0002	0.0026	0.0001	0.0018	0.0019	0.0013	0.0024	0.0277	0.0017	0.0016	0.0240	0.0225	4.859e-05	0	0.0003	0	0.0277	0.0103	0	0.0005	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	213.59	20	chr10	122461686	.	C	CCT	213.59	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.524;DP=115;ExcessHet=0;FS=0;InbreedingCoeff=-0.068;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.923;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,6:15:99:0|1:122461685_G_GT:225,0,360:122461685	9	0	1	0
chr10	122833698	122833698	C	T	exonic	CUZD1	.	nonsynonymous SNV	CUZD1:NM_022034:exon8:c.G1625A:p.R542K	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00545657802026	0.0002	0.000199681	0.0006	0	8.639e-05	0.0016	0.0027	0.0005	0	0.0003	0.0004592	71	154602	rs144406058	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0003	0.0012	0.0011	2.988e-05	0	0.0005	0.0015	0.0022	0.0002	0.0002	0.0005	0.0004	0.0004	0.0004	0.0003	0.0006	0.0017	0.0003	0.0003	0.0009	0.0007	0	0	0	0.0012	0.0017	0.0024	0	0.0004	0.0005	0.0006	0.102	0.30235	T	0.26	0.23029	T	0.068	0.23728	B	0.014	0.16862	B	0.039019	0.24219	N	0.463064	1	0.08975	N	2.015	0.55033	M	1.1	0.39050	T	-0.32	0.12283	N	0.126	0.11912	-1.0202	0.23649	T	0.055	0.23262	T	10	0.004857838	0.00104	T	0.005457	0.14045	T	0.024	0.04979	.	.	0.36355261348	0.35965	0.1987745128889033	0.19794	0.0645436709737	0.07206	.	.	.	0.059891	0.31238	T	-0.53029	0.00382	T	-0.547732	0.17545	T	0.0184819307307244	0.00564	T	0.537746	0.18100	T	0.093723334	0.22019	0.07751926	0.17277	0.093723334	0.22019	0.07751926	0.17277	-3.075	0.11011	T	.	.	0.08	0.07793	B	.;.	.;.	1.518560	0.19502	14.29	0.95991941580403084	0.28388	0.06414	0.12418	N	AEFBI	0.068384	0.13489	N	-0.748470824154182	0.14675	0.733019	-0.668358340746405	0.17754	0.9454264	0.0048870964803403	0.10750	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.1	2.05	0.25860	-0.559000	0.06062	.	.	0.599000	0.40250	0.000000	0.06391	0.768000	0.26677	0.954000	0.50415	0.0:0.5793:0.1374:0.2834	6.127	0.19405	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1150.43	34	chr10	122833698	.	C	T	1150.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.042;SOR=0.715	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1162,0,1390	9	0	1	0
chr10	122841248	122841248	T	C	exonic	CUZD1	.	nonsynonymous SNV	CUZD1:NM_022034:exon2:c.A163G:p.S55G	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0005	0.00259585	0.0020	0.0002	0.0003	0.0170	0.0054	0.0007	0.0011	0.0008	0.0018046	279	154602	rs141881176	0.0009	0.0009	0.0009	0.0009	0.0137	0.0008	0.0008	0.0127	0.0123	5.975e-05	0.0002	0.0005	0.0137	0.0046	0.0002	0.0002	0.0020	0.0014	0.0013	0.0013	0.0009	0.0017	0.0156	0.0011	0.0011	0.0129	0.0119	0.0001	0	0.0003	0.0012	0.0156	0.0045	0	0.0005	0.0019	0.0027	0.039	0.42487	D	0.051	0.47828	T	0.019	0.17989	B	0.024	0.20255	B	0.088612	0.02431	N	1.962370	1	0.08975	N	0.935	0.23595	L	1.35	0.34648	T	-0.2	0.10136	N	0.127	0.12055	-0.9766	0.35772	T	0.042	0.18076	T	10	0.003978342	0.00077	T	.	.	.	0.034	0.08419	.	.	0.371344866733	0.36741	0.21859629201676883	0.21775	0.0788483161384	0.08873	.	.	.	0.049768	0.28402	T	-0.616603	0.00115	T	-0.644204	0.09365	T	0.0116667562601844	0.00178	T	0.471453	0.13989	T	0.05675521	0.11207	0.07873136	0.17660	0.05675521	0.11207	0.07873136	0.17659	-2.626	0.06703	T	.	.	0.09	0.12607	B	.;.	.;.	0.792409	0.11628	8.215	0.9749633516365126	0.34272	0.02118	0.06262	N	AEFGBI	0.065849	0.12864	N	-1.07630793989911	0.07082	0.3279443	-1.08300120001307	0.08035	0.393328	0.988875390907366	0.31655	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.57	-4.03	0.03752	-0.663000	0.05398	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.860000	0.40782	0.0:0.5035:0.0:0.4965	13.547	0.61169	925	0.17918	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1207.43	33	chr10	122841248	.	T	C	1207.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.631;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.421;SOR=0.7	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1219,0,1462	9	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	8292.02	133	chr10	124989543	.	T	C	8292.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.997;DP=1182;ExcessHet=15.1594;FS=11.175;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=50.01;MQRankSum=-8.13;QD=7.76;ReadPosRankSum=0.874;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,30:113:99:0|1:124989533_G_A:925,0,3321:124989533	1	0	9	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4284.98	127	chr10	124989564	.	TG	T	4284.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.961;DP=1243;ExcessHet=15.1594;FS=12.6;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=52;MQRankSum=-7.935;QD=3.92;ReadPosRankSum=-1.956;SOR=0.21	GT:AD:DP:GQ:PL	0/1:92,24:116:99:521,0,3064	1	0	9	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4849.02	142	chr10	124994489	.	T	G	4849.02	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.87;DP=1577;ExcessHet=22.563;FS=32.626;InbreedingCoeff=-0.998;MLEAC=10;MLEAF=0.5;MQ=58.54;MQRankSum=-5.718;QD=3.23;ReadPosRankSum=-4.421;SOR=3.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,9:128:20:0|1:124994489_T_G:20,0,4951:124994489	0	0	10	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6034.04	150	chr10	124994501	.	G	A	6034.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.21;DP=1649;ExcessHet=22.563;FS=38.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.03;MQRankSum=-5.929;QD=3.89;ReadPosRankSum=-3.325;SOR=3.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,10:126:71:0|1:124994489_T_G:71,0,4834:124994489	0	0	10	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6176.04	150	chr10	124994505	.	A	T	6176.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.17;DP=1668;ExcessHet=22.563;FS=40.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.93;MQRankSum=-5.733;QD=4.01;ReadPosRankSum=-2.482;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,10:128:65:0|1:124994489_T_G:65,0,4841:124994489	0	0	10	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8820.04	174	chr10	124994530	.	G	A	8820.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.599;DP=1823;ExcessHet=22.563;FS=63.896;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.45;MQRankSum=-4.587;QD=5.36;ReadPosRankSum=1.32;SOR=4.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,18:128:99:0|1:124994523_G_A:382,0,4483:124994523	0	0	10	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4694.8	180	chr10	124994542	.	C	T	4694.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.796;DP=1829;ExcessHet=15.1594;FS=59.93;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=57.08;MQRankSum=-4.748;QD=3.27;ReadPosRankSum=2.87;SOR=4.447	GT:AD:DP:GQ:PL	0/1:105,19:124:99:179,0,2927	0	0	9	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	4755.02	191	chr10	124994563	.	A	T	4755.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.391;DP=1867;ExcessHet=15.1594;FS=69.308;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.08;MQRankSum=-4.998;QD=3.27;ReadPosRankSum=3.5;SOR=4.822	GT:AD:DP:GQ:PL	0/1:98,22:120:99:232,0,2897	1	0	9	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12161.0	190	chr10	124994577	.	C	A	12161.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.833;DP=1897;ExcessHet=22.563;FS=80.112;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.03;MQRankSum=-5.452;QD=7.18;ReadPosRankSum=2.73;SOR=4.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,23:124:99:0|1:124994577_C_A:662,0,4107:124994577	0	0	10	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1004.29	183	chr10	124998077	.	C	G	1004.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.613;DP=1900;ExcessHet=2.8389;FS=16.906;InbreedingCoeff=-0.4814;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.775;QD=1.13;ReadPosRankSum=0.514;SOR=2.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,19:203:99:0|1:124998077_C_G:244,0,7660:124998077	2	0	5	3
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	971.29	186	chr10	124998080	.	G	C	971.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.672;DP=1891;ExcessHet=2.8389;FS=14.731;InbreedingCoeff=-0.4812;MLEAC=6;MLEAF=0.429;MQ=58.72;MQRankSum=-8.749;QD=1.08;ReadPosRankSum=0.762;SOR=2.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,19:206:99:0|1:124998077_C_G:235,0,7786:124998077	2	0	5	3
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	995.27	187	chr10	124998087	.	T	C	995.27	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.122;DP=1868;ExcessHet=2.8389;FS=17.019;InbreedingCoeff=-0.4808;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-8.749;QD=1.12;ReadPosRankSum=2.66;SOR=2.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,19:203:99:0|1:124998077_C_G:244,0,7669:124998077	2	0	5	3
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	949.91	192	chr10	124998090	.	G	A	949.91	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.555;DP=1882;ExcessHet=2.8389;FS=14.717;InbreedingCoeff=-0.4625;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.697;QD=1.05;ReadPosRankSum=2.21;SOR=2.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,19:206:99:0|1:124998077_C_G:235,0,7770:124998077	2	0	5	3
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1004.3	197	chr10	124998111	.	A	C	1004.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.527;DP=1890;ExcessHet=1.5895;FS=14.586;InbreedingCoeff=-0.3924;MLEAC=5;MLEAF=0.357;MQ=58.74;MQRankSum=-8.929;QD=1.45;ReadPosRankSum=3.72;SOR=2.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,19:195:99:0|1:124998111_A_C:268,0,7292:124998111	3	0	4	3
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	991.72	201	chr10	124998113	.	A	G	991.72	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.497;DP=1880;ExcessHet=1.5895;FS=14.586;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.357;MQ=58.73;MQRankSum=-9.005;QD=1.42;ReadPosRankSum=3.57;SOR=2.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,19:195:99:0|1:124998111_A_C:268,0,7292:124998111	3	0	4	3
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	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	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	727.57	37	chr10	131970666	.	G	A	727.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.948;DP=1168;ExcessHet=1.5895;FS=186.628;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=59.88;MQRankSum=0.679;QD=0.79;ReadPosRankSum=2.42;SOR=11.197	GT:AD:DP:GQ:PL	0/1:180,77:257:99:262,0,3295	6	0	4	0
chr10	132850429	132850429	A	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon41:c.T5767C:p.W1923R	.	422	990	104	6	0	116	0.0553435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	0.0049	0.00698882	0.0251	0.0032	0.0181	0	0.0076	0.0216	0.0670	0.0544	0.0075549	1168	154602	rs151247898	0.0098	0.0098	0.0090	0.0106	0.0394	0.0097	0.0096	0.0352	0.0335	0.0016	0.0064	0.0063	0.0001	0.0023	0.0394	0.0092	0.0105	0.0306	0.0077	0.0077	0.0078	0.0076	0.0319	0.0073	0.0072	0.0278	0.0263	0.0018	0.0242	0.0105	0.0066	0.0002	0.0020	0.0136	0.0101	0.0109	0.0319	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000100	0.51296	D	0.000000	0.972875	0.25577	N	.	.	.	0.18	0.60361	T	-6.82	0.92980	D	0.862	0.85872	-0.5380	0.67239	T	0.235	0.60234	T	10	0.008827597	0.00200	T	.	.	.	0.399	0.71321	.	.	0.468420198123	0.46471	0.5736029430132835	0.57289	0.719680404555	0.62146	0.545271277428	0.45189	T	0.201223	0.55904	T	-0.258478	0.13079	T	-0.122432	0.61602	T	0.0439943876900533	0.04419	T	0.339966	0.07337	T	0.86401325	0.88393	0.6436816	0.79174	0.86401325	0.88395	0.6436816	0.79174	-9.648	0.71778	D	.	.	0.911	0.83497	P	.	.	3.258967	0.44559	22.0	0.97795370841995799	0.36027	0.21783	0.21522	N	AEFDBI	0.078318	0.15800	N	0.24639609896864	0.53461	3.514831	0.110938199862891	0.45107	2.779827	0.00201962742530028	0.09087	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.14	4.14	0.47821	2.663000	0.46440	3.858000	0.40123	0.756000	0.94297	0.983000	0.35670	0.996000	0.32793	0.049000	0.15107	1.0:0.0:0.0:0.0	9.858	0.40267	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032760	0.016484	0.031335	0.032847	0.000000	0.034483	0.039735	0.030534	0.1	2189.14	33	chr10	132850429	.	A	G	2189.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.624;DP=486;ExcessHet=0.2348;FS=4.853;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.703;SOR=1.03	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1055,0,1087	8	0	2	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1399.41	31	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	1399.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.537;DP=358;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-2.813;SOR=0.639	GT:AD:DP:GQ:PL	0/1:22,19:41:99:633,0,755	7	0	3	0
chr10	132885935	132885935	C	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon26:c.G3329C:p.R1110P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.16813687384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.153e-07	6.84e-07	0	1.45e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.725e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.51	0.14284	T	-5.15	0.83357	D	0.75	0.74918	-0.8779	0.49927	T	0.188	0.53797	T	6	0.8559004	0.84786	D	0.168137	0.84632	D	0.229	0.52916	0.697	0.83406	0.117506650769	0.11410	0.802744652548951	0.80228	0.641823961811	0.57762	0.536645650864	0.43971	T	0.247414	0.61705	T	-0.018043	0.49132	T	-0.263694	0.48454	T	0.969066619873047	0.68459	D	0.732627	0.34815	T	0.6223112	0.73887	0.61007005	0.77319	0.6223112	0.73888	0.61007005	0.77320	-13.541	0.91469	D	.	.	0.941	0.85964	P	.	.	3.571598	0.50303	22.9	0.98745342258114033	0.45572	0.69867	0.34359	D	AEFDBHCI	0.144581	0.26758	N	-0.306462173797827	0.28901	1.598094	-0.433385463551195	0.24024	1.313289	2.11855831435507E-4	0.05997	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.52	2.29	0.27658	1.548000	0.35808	4.356000	0.43103	0.549000	0.26987	0.131000	0.23362	1.000000	0.68203	0.004000	0.06068	0.0:0.8721:0.0:0.1279	10.676	0.44980	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	385.43	40	chr10	132885935	.	C	G	385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.57;DP=389;ExcessHet=0;FS=4.301;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-0.361;SOR=1.074	GT:AD:DP:GQ:PL	0/1:29,18:47:99:397,0,690	9	0	1	0
chr10	133281388	133281388	C	T	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon16:c.G2068A:p.A690T,TUBGCP2:NM_006659:exon17:c.G2458A:p.A820T,TUBGCP2:NM_001256617:exon18:c.G2542A:p.A848T	.	.	.	.	.	.	.	.	.	.	.	4090407	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00524208209375	.	0.000199681	8.283e-06	0	0	0	0	1.511e-05	0	0	1.29e-05	2	154602	rs538460913	2.053e-06	2.736e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0.0002	0	1.656e-05	0	1.97e-05	1.968e-05	0	4.028e-05	0.0002	5.24e-06	2.45e-06	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0	0	0	0	0.469	0.15984	T	0.563	0.09522	T	0.079	0.24468	B	0.045	0.24526	B	0.015179	0.28322	N	0.355044	0.999417	0.46970	D	2.175	0.60977	M	2.47	0.31731	T	-0.46	0.14978	N	0.527	0.57006	-1.1041	0.03630	T	0.064	0.26456	T	10	0.15789402	0.29704	T	0.005242	0.13371	T	0.044	0.11924	0.356	0.35734	0.344710718752	0.34073	0.19199733238537203	0.19117	0.348401072875	0.36710	0.553643286228	0.46372	T	0.089648	0.38417	T	-0.157116	0.27205	T	-0.380597	0.35652	T	0.455874800682068	0.31013	T	0.860614	0.55382	D	0.06074138	0.12500	0.068345085	0.14260	0.06074138	0.12500	0.068345085	0.14260	0.204	0.00284	T	.	.	0.073	0.07365	B	.;.;.;.;.	.;.;.;.;.	3.158252	0.42778	21.6	0.98091940905090391	0.38197	0.97262	0.73654	D	AEFDGBI	0.658647	0.62984	D	0.0138739638681457	0.42485	2.560759	0.158672437480364	0.47602	2.988102	0.999999998886592	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.64	4.64	0.57399	5.762000	0.68459	7.518000	0.59719	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.1755:0.8244:0.0:0.0	11.811	0.51456	993	0.01300	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1493.43	39	chr10	133281388	.	C	T	1493.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.89;DP=436;ExcessHet=0;FS=4.444;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.226;SOR=0.399	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1505,0,1412	9	0	1	0
chr11	540740	540740	G	A	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon4:c.G56A:p.R19Q	.	422	1087	11	2	0	15	0.00685244	.	.	.	1548654	not_provided|LRRC56-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.011	0.00309820486243	0.0038	0.00439297	0.0025	0.0095	0.0029	0	0	0.0022	0.0026	0.0015	0.0022639	350	154602	rs144525570	0.0016	0.0016	0.0015	0.0016	0.0210	0.0015	0.0015	0.0179	0.0168	0.0097	0.0027	0.0007	2.52e-05	9.584e-05	0.0210	0.0013	0.0033	0.0011	0.0037	0.0036	0.0038	0.0035	0.0088	0.0034	0.0033	0.0081	0.0078	0.0088	0	0.0037	0.0009	0	0	0.0170	0.0015	0.0043	0.0033	0.349	0.12345	T	0.275	0.22016	T	0.018	0.17786	B	0.003	0.08700	B	0.954772	0.08263	N	0.976842	1	0.08975	N	0.515	0.13537	N	2.85	0.10578	T	-0.76	0.21215	N	0.05	0.02179	-0.9639	0.38428	T	0.010	0.03537	T	10	0.004208058	0.00084	T	0.003098	0.06726	T	0.011	0.01250	.	.	0.130388298395	0.12655	0.3675473950119055	0.36668	.	.	0.330809742212	0.15057	T	0.002713	0.02105	T	-0.733651	0.00023	T	-0.820783	0.01436	T	0.00333462895417693	0.00035	T	0.60444	0.22695	T	0.036576673	0.04525	0.036482133	0.03104	0.036576673	0.04525	0.036482133	0.03104	-3.885	0.22077	T	0.10907979318312648	0.09068	0.071	0.03887	B	.	.	-0.679974	0.01368	0.078	0.88345943016220319	0.17904	0.00723	0.03043	N	AEFDBI	0.029879	0.02902	N	-1.47638766735075	0.02018	0.0886564	-1.53266931245058	0.02097	0.09595504	0.999998525149659	0.74766	0.700653	0.57754	0	0.633656	0.55848	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.88	-5.16	0.02640	-2.919000	0.00761	-1.826000	0.04656	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.235000	0.22869	0.5069:0.0:0.264:0.2291	5.482	0.16024	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	1	0	0.020182	0.020408	0.021739	0.029412	0.000000	0.025862	0.021472	0.007576	0.05	562.43	39	chr11	540740	.	G	A	562.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.379;DP=407;ExcessHet=0;FS=1.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.3;ReadPosRankSum=0.857;SOR=0.622	GT:AD:DP:GQ:PL	0/1:48,29:77:99:574,0,1037	9	0	1	0
chr11	608262	608262	T	C	exonic	PHRF1	.	nonsynonymous SNV	PHRF1:NM_001286581:exon14:c.T2806C:p.S936P,PHRF1:NM_001286582:exon14:c.T2800C:p.S934P,PHRF1:NM_001286583:exon14:c.T2794C:p.S932P,PHRF1:NM_020901:exon14:c.T2803C:p.S935P	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.062330573955	.	0.000399361	0.0006	0	0.0001	0	0	0	0	0.0036	0.0003946	61	154602	rs539237004	0.0002	0.0003	0.0001	0.0004	0.0040	0.0002	0.0002	0.0036	0.0035	0	0	0	0	0	0.0004	8.997e-06	9.955e-05	0.0040	0.0001	0.0001	7.729e-05	0.0001	0.0027	7.107e-05	5.76e-05	0.0016	0.0013	4.835e-05	0	0	0	0	0	0	2.944e-05	0	0.0027	0.159	0.23905	T	0.113	0.36901	T	0.005	0.15093	B	0.007	0.17743	B	0.830089	0.09113	N	0.894418	1	0.08975	N	1.75	0.45442	L	-1.46	0.80983	T	-1.78	0.44471	N	0.266	0.31027	-0.9092	0.46952	T	0.248	0.61727	T	10	0.0053681433	0.00118	T	0.062331	0.68619	D	0.170	0.43303	0.164	0.06842	0.373944490328	0.37009	0.1843004671162432	0.18349	0.122217187463	0.13767	0.401087522507	0.25220	T	0.027115	0.19926	T	-0.383958	0.02940	T	-0.327042	0.41798	T	0.020051579920887	0.00706	T	0.613539	0.23382	T	0.09582257	0.22558	0.11761196	0.28392	0.09582257	0.22558	0.11761196	0.28391	-2.976	0.09946	T	.	.	0.099	0.18331	B	.;.;.;.	.;.;.;.	0.666649	0.10352	7.079	0.81418952270394851	0.13676	0.16579	0.19454	N	AEFBCI	0.173299	0.30037	N	-1.28319490806138	0.03877	0.1740143	-1.31664579809629	0.04214	0.1983338	0.988648148968894	0.31583	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.89	-0.122	0.12871	0.466000	0.21731	0.205000	0.15895	-0.147000	0.12262	0.013000	0.18845	0.002000	0.18203	0.000000	0.00833	0.0:0.1865:0.1663:0.6472	4.458	0.11075	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1073.43	46	chr11	608262	.	T	C	1073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.567;DP=421;ExcessHet=0;FS=4.305;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.569;SOR=0.839	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1085,0,1219	9	0	1	0
chr11	639463	639463	C	T	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon2:c.C316T:p.R106C	Autonomic nervous system dysfunction (3)	342	1179	1	0	0	1	0.000423908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0448279086861	.	.	0.0005	0	0.0001	0	0	0	0	0.0031	0.0002523	39	154602	rs749432757	0.0002	0.0002	7.558e-05	0.0003	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	0	0	0.0005	5.402e-06	6.656e-05	0.0027	7.88e-05	7.874e-05	5.14e-05	0.0001	0.0019	4.494e-05	3.51e-05	0.0010	0.0007	0	0	0	0	0	0	0	4.412e-05	0	0.0019	0.023	0.48186	D	0.171	0.30339	T	.	.	.	.	.	.	0.537867	0.05296	N	1.299720	0.741106	0.29733	N	.	.	.	-0.63	0.72011	T	0.02	0.06739	N	0.354	0.39558	-0.6483	0.62788	T	0.316	0.68540	T	9	0.022238791	0.00550	T	0.044828	0.61680	D	0.239	0.54358	0.596	0.72617	0.85677975047	0.85539	0.5346367544007338	0.53388	0.382555242922	0.39587	0.602393746376	0.53242	T	.	.	.	-0.39397	0.02535	T	-0.344545	0.39829	T	0.123205667834295	0.14740	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.44069	B	.	.	2.174672	0.27714	17.56	0.98806307278030314	0.46541	0.11855	0.16905	N	AEFDBHCI	0.210030	0.33596	N	-0.388316681218394	0.25885	1.408474	-0.483166840003081	0.22617	1.229333	0.999974064193372	0.50053	0.733237	0.96898	0	0.550933	0.16991	0	0.600757	0.32118	0	0.63947	0.58350	0	.	.	3.22	1.24	0.20416	0.436000	0.21244	-0.526000	0.08662	-0.366000	0.05473	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.0:0.3401:0.6599:0.0	10.936	0.46455	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001020	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003846	0.05	1196.43	41	chr11	639463	.	C	T	1196.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.878;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.533;SOR=0.646	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1208,0,1156	9	0	1	0
chr11	865735	865735	G	C	exonic	TSPAN4	.	nonsynonymous SNV	TSPAN4:NM_001025238:exon6:c.G474C:p.E158D,TSPAN4:NM_001025239:exon6:c.G282C:p.E94D,TSPAN4:NM_001025234:exon7:c.G474C:p.E158D,TSPAN4:NM_001025235:exon7:c.G474C:p.E158D,TSPAN4:NM_001025236:exon7:c.G474C:p.E158D,TSPAN4:NM_001025237:exon7:c.G474C:p.E158D,TSPAN4:NM_003271:exon7:c.G474C:p.E158D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.0586543915851	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs567184065	6.844e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.565e-06	6.561e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.383	0.16144	T	0.554	0.32568	T	0.004	0.12183	B	0.02	0.19048	B	0.280688	0.14951	N	0.650743	0.902117	0.37353	D	0.995	0.25082	L	-1.21	0.78645	T	-0.2	0.17834	N	0.313	0.38643	-0.9382	0.42900	T	0.215	0.57652	T	10	0.084721446	0.14230	T	0.058654	0.67393	D	0.370	0.68930	0.397	0.42426	0.355450299083	0.35149	0.7446324019275813	0.74409	0.0644889919171	0.07196	0.709886193275	0.68577	T	0.110491	0.42523	T	0.0713062	0.61007	D	-0.13535	0.60518	T	0.0747819840908051	0.09306	T	0.727827	0.50550	T	0.04401204	0.06961	0.03828303	0.03663	0.04401204	0.06960	0.03828303	0.03662	-8.856	0.66765	D	.	.	0.124	0.29806	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.613947	0.20623	14.83	0.95991218693809111	0.28388	0.62730	0.31870	D	AEFDBHCI	0.652432	0.62583	D	-0.873338765761287	0.11480	0.5542027	-0.756492746302638	0.15564	0.8191198	0.991951054928162	0.32667	0.741868	0.97996	0	0.694456	0.67091	0	0.774882	0.98623	0	0.711	0.71501	0	.	.	3.58	0.639	0.16919	0.009000	0.13117	0.785000	0.21516	-0.301000	0.06190	0.796000	0.29669	0.999000	0.35428	0.915000	0.45038	0.4206:0.0:0.5794:0.0	8.874	0.34490	878	0.29785	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2205.43	36	chr11	865735	.	G	C	2205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.646;DP=623;ExcessHet=0;FS=0.509;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.296;SOR=0.649	GT:AD:DP:GQ:PL	0/1:121,92:213:99:2217,0,3168	9	0	1	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	468.85	245	chr11	1018228	.	G	*	468.85	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.67;DP=2185;ExcessHet=7.0302;FS=18.309;InbreedingCoeff=-0.5385;MLEAC=5;MLEAF=0.25;MQ=56.96;MQRankSum=-9.438;QD=0.31;ReadPosRankSum=-2.147;SOR=2.537	GT:AD:DP:GQ:PL	0/1:175,16:196:99:136,0,7416	5	0	5	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	5261.36	292	chr11	1018290	.	G	A	5261.36	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.14;DP=2815;ExcessHet=15.1594;FS=18.65;InbreedingCoeff=-0.8182;MLEAC=7;MLEAF=0.35;MQ=55.31;MQRankSum=-9.462;QD=2.02;ReadPosRankSum=0.915;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:201,35:261:99:.:.:865,0,8335:.	3	0	7	0
chr11	1097032	1097032	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	714	805	2	0	1	3	0.00124069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357848776	0.0048	0.0026	0.0049	0.0047	0.0088	0.0046	0.0045	0.0060	0.0058	0.0016	0.0028	0.0025	0.0005	0.0064	0.0088	0.0063	0.0029	0.0024	0.0007	0.0009	0.0006	0.0008	0.0012	0.0005	0.0004	0.0008	0.0007	0	0	0.0006	0	0	0.0003	0	0.0012	0.0016	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	459.43	50	chr11	1097032	.	C	T	459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.93;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.51;MQRankSum=-0.115;QD=5.67;ReadPosRankSum=-1.006;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,17:81:99:0|1:1097032_C_T:471,0,2268:1097032	9	0	1	0
chr11	1097066	1097066	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	679	840	3	0	0	3	0.00178253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254065654	0.0028	0.0037	0.0027	0.0029	0.0052	0.0027	0.0027	0.0034	0.0034	0.0004	0.0016	0.0017	0	0.0046	0.0052	0.0036	0.0016	0.0015	0.0005	0.0007	0.0004	0.0006	0.0007	0.0004	0.0003	0.0005	0.0004	9.276e-05	0	0.0001	0	0	0.0015	0	0.0007	0.0026	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	691.43	51	chr11	1097066	.	C	A	691.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=889;ExcessHet=0;FS=8.02;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.59;MQRankSum=-0.934;QD=7.52;ReadPosRankSum=-0.487;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,25:92:99:0|1:1097032_C_T:703,0,2472:1097032	9	0	1	0
chr11	1098174	1098174	G	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0007	0.0004	0.0004	0.0008	0.0004	0.0003	0.0005	0.0005	0.0005	0.0003	0.0005	0.0008	0.0003	0	0.0004	0.0006	0.0002	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	137.63	26	chr11	1098174	.	G	C	137.63	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.305;DP=262;ExcessHet=0;FS=0;InbreedingCoeff=-0.3334;MLEAC=2;MLEAF=0.5;MQ=33.78;MQRankSum=-0.769;QD=4.92;ReadPosRankSum=-2.783;SOR=0.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,5:28:99:0|1:1098132_C_A:141,0,951:1098132	1	0	1	8
chr11	1098175	1098175	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0007	0.0004	0.0004	0.0008	0.0004	0.0003	0.0006	0.0005	0.0006	0.0003	0.0004	0.0008	0.0003	0	0.0004	0.0007	0.0002	4.588e-05	0.0001	8.933e-05	0	0.0005	0	0	.	.	0	0	0.0005	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	138.93	26	chr11	1098175	.	T	C	138.93	.	AC=1;AF=0.167;AN=6;BaseQRankSum=1.66;DP=258;ExcessHet=0;FS=0;InbreedingCoeff=-0.2914;MLEAC=2;MLEAF=0.333;MQ=33.91;MQRankSum=-0.866;QD=5.15;ReadPosRankSum=-1.803;SOR=0.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,5:27:99:0|1:1098132_C_A:144,0,909:1098132	2	0	1	7
chr11	1098176	1098176	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0007	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0.0003	0.0004	0.0007	0.0002	0	0.0004	0.0006	0.0002	0	9.011e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	97.47	23	chr11	1098176	.	A	C	97.47	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.77;DP=250;ExcessHet=0;FS=0;InbreedingCoeff=-0.2158;MLEAC=2;MLEAF=0.2;MQ=34.36;MQRankSum=-1.036;QD=3.9;ReadPosRankSum=-1.803;SOR=0.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,4:25:99:0|1:1098132_C_A:105,0,870:1098132	4	0	1	5
chr11	1098652	1098652	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	580	930	12	0	0	12	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162984494	0.0033	0.0046	0.0033	0.0033	0.0076	0.0033	0.0032	0.0058	0.0051	0.0003	0.0026	0.0013	0	0.0012	0.0076	0.0037	0.0028	0.0029	0.0009	0.0013	0.0009	0.0009	0.0017	0.0008	0.0007	0.0012	0.0011	5.304e-05	0.0024	0.0017	0.0009	0	0.0002	0.0076	0.0014	0.0022	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1093.43	375	chr11	1098652	.	C	T	1093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=2453;ExcessHet=0;FS=12.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.31;MQRankSum=0.661;QD=4.13;ReadPosRankSum=-0.483;SOR=1.397	GT:AD:DP:GQ:PL	0/1:201,64:265:99:1105,0,3873	9	0	1	0
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2191.92	115	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	2191.92	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.75;DP=3327;ExcessHet=2.3007;FS=0.524;InbreedingCoeff=-0.1696;MLEAC=6;MLEAF=0.6;MQ=52.67;MQRankSum=-0.92;QD=1.9;ReadPosRankSum=-2.196;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,49:141:99:.:.:1727,0,11423:.	1	0	4	5
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	37325.4	122	chr11	1099370	.	G	*	37325.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.89;DP=3372;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=5;MLEAF=0.25;MQ=53.57;MQRankSum=-0.709;QD=17.77;ReadPosRankSum=0.377;SOR=0.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,197:286:99:.:.:8222,2733,3288:.	5	0	5	0
chr11	1102567	1102567	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0148874773164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9894	0.32753	T	0.138	0.45451	T	9	0.073093146	0.10999	T	0.014887	0.35296	T	.	.	.	.	.	.	0.2879401432622749	0.28707	.	.	0.299542248249	0.10332	T	0.020102	0.15887	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27583	B	.	.	0.060996	0.04720	1.353	0.80345425271443893	0.13159	0.05258	0.11095	N	AEFDBI	0.108457	0.21576	N	-1.42782486762661	0.02397	0.1057934	-1.61671436651121	0.01557	0.07056345	0.964617387915035	0.28772	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.95	-7.91	0.01031	-0.512000	0.06397	-8.175000	0.01015	-0.438000	0.05181	0.000000	0.06391	0.000000	0.08366	0.283000	0.24091	0.0941:0.7485:0.0:0.1574	15.778	0.78007	970	0.06235	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2759.43	42	chr11	1102567	.	C	T	2759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=524;ExcessHet=0;FS=11.147;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.433;SOR=1.349	GT:AD:DP:GQ:PL	0/1:92,100:192:99:2771,0,2270	9	0	1	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4786.48	40	chr11	1630364	.	AGTCC	*	4786.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=2.566;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.54;QD=4.74;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,53:167:99:1|0:1630317_C_T:1676,0,4446:1630317	4	0	6	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4769.48	40	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*	4769.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=1.818;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.7;QD=4.76;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,53:167:99:1|0:1630317_C_T:1676,0,4446:1630317	4	0	6	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	17335.9	40	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	17335.9	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.85;DP=1824;ExcessHet=0.6204;FS=1.237;InbreedingCoeff=0.0476;MLEAC=8;MLEAF=0.4;MQ=59.01;MQRankSum=-4.506;QD=12.68;ReadPosRankSum=0.914;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,53:167:99:1|0:1630317_C_T:1676,0,4446:1630317	4	2	4	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	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	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2	8215.57	39	chr11	1956322	.	G	A	8215.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.86;DP=958;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.45;SOR=0.706	GT:AD:DP:GQ:PL	0/1:102,111:213:99:2627,0,2355	6	0	4	0
chr11	2407879	2407879	A	G	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon19:c.T2816C:p.L939P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0922840040594	.	.	0.0003	0	0	0	0	0	0.0022	0.0021	0.0002393	37	154602	rs775135124	0.0001	0.0001	4.357e-05	0.0002	0.0018	9.605e-05	9.084e-05	0.0016	0.0015	0	0	0	0	0	0	0	6.624e-05	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.63226	D	0.022	0.58089	D	0.0	0.51611	B	0.002	0.54779	B	0.002777	0.35968	U	0.169340	0.999991	0.58761	D	1.1	0.28011	L	-0.6	0.71662	T	-2.19	0.49519	N	0.421	0.46086	-0.7991	0.55197	T	0.233	0.59916	T	10	0.031953484	0.01338	T	0.092284	0.75864	D	0.197	0.47942	0.585	0.71245	0.166414681773	0.16258	0.7816968519938516	0.78120	0.154650668509	0.17468	0.498502373695	0.38620	T	0.58277	0.86363	D	-0.405779	0.02121	T	-0.374665	0.36345	T	0.161418498929537	0.17976	T	0.646135	0.25753	T	0.37869307	0.59222	0.40320855	0.64782	0.37869307	0.59222	0.40320855	0.64782	-13.384	0.90883	D	.	.	0.082	0.14523	B	.;.;.;.	.;.;.;.	2.292603	0.29327	18.09	0.99005383026364269	0.50252	0.77661	0.38210	D	AEFDBI	0.575663	0.57796	D	-0.677843658545852	0.16654	0.8504254	-0.738254202770202	0.16012	0.844974	0.99158165999795	0.32538	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.56	2.42	0.28720	3.435000	0.52611	3.630000	0.39313	-0.065000	0.16512	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.8993:0.0:0.1007:0.0	8.032	0.29632	988	0.01987	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	983.43	35	chr11	2407879	.	A	G	983.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.841;DP=412;ExcessHet=0;FS=3.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.688;SOR=0.4	GT:AD:DP:GQ:PL	0/1:56,40:96:99:995,0,1525	9	0	1	0
chr11	2412827	2412827	G	A	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon15:c.C2282T:p.P761L	.	417	1100	4	1	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.749002440507	.	.	0.0005	0	0.0004	0	0	0.0001	0.0039	0.0024	0.0002652	41	154602	rs556364904	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	2.315e-05	0	0	0	0.0009	4.332e-05	0.0006	0.0028	0.0001	0.0001	6.423e-05	0.0002	0.0025	8.656e-05	7.249e-05	0.0014	0.0011	4.81e-05	0	0.0002	0	0	0	0	1.47e-05	0.0009	0.0025	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.075	0.87202	M	-0.64	0.72125	T	-5.09	0.82961	D	0.624	0.63968	0.139	0.84859	D	0.544	0.83213	D	10	0.038475126	0.02268	T	0.749002	0.97997	D	0.446	0.74797	0.37	0.38013	0.684252380218	0.68155	0.42957882695739485	0.42874	0.485256337644	0.47413	0.573685884476	0.49198	T	0.874578	0.97319	D	-0.268523	0.11922	T	-0.160912	0.58270	T	0.240165501650694	0.22427	T	0.855714	0.54342	D	0.42356393	0.62328	0.45104125	0.68058	0.42356393	0.62328	0.45104125	0.68058	-7.171	0.55273	T	.	.	0.161	0.35622	B	.;.;.;.	.;.;.;.	4.292572	0.65474	24.8	0.99743570604385356	0.83703	0.93110	0.57353	D	AEFBCI	0.900852	0.84686	D	0.376473054716891	0.60149	4.200827	0.170469501196412	0.48236	3.042339	0.999874878828382	0.44625	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.28	3.36	0.37579	7.548000	0.81103	8.271000	0.76889	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.554000	0.30269	0.0912:0.0:0.9088:0.0	11.290	0.48477	988	0.01987	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.15	3483.45	33	chr11	2412827	.	G	A	3483.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.261;DP=527;ExcessHet=0.7463;FS=1.474;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.936;SOR=0.604	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1041,0,1639	7	0	3	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	354.06	81	chr11	4488904	.	C	T	354.06	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.926;DP=903;ExcessHet=2.8389;FS=192.49;InbreedingCoeff=-0.3214;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.25;SOR=11.326	GT:AD:DP:GQ:PL	0/1:53,29:97:97:97,0,867	7	0	3	0
chr11	4545686	4545686	C	T	exonic	OR52M1	.	nonsynonymous SNV	OR52M1:NM_001004137:exon1:c.C496T:p.R166C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00819569020033	.	0.00179712	0.0007	9.619e-05	0	0.0001	0.0002	4.521e-05	0	0.0051	0.0006468	100	154602	rs201510674	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	5.981e-05	4.48e-05	0	0.0001	0	0	1.71e-05	0.0003	0.0049	0.0002	0.0002	0.0002	0.0003	0.0071	0.0002	0.0002	0.0052	0.0046	2.408e-05	0	0	0	0	0	0	1.47e-05	0	0.0071	0.009	0.57480	D	0.001	0.83351	D	0.999	0.77913	D	0.912	0.64797	D	0.005884	0.32428	N	0.142760	0.831551	0.34926	D	0	0.06538	N	8.66	0.00139	T	-3.04	0.62863	D	0.174	0.18649	-0.4429	0.70634	T	0.001	0.00348	T	10	0.008294165	0.00188	T	0.008196	0.21725	T	0.138	0.37187	.	.	0.687275677094	0.68460	0.3403023397565937	0.33943	.	.	0.191672056913	0.00256	T	0.048879	0.28145	T	-0.508198	0.00514	T	-0.502089	0.22132	T	0.101293130212867	0.12499	T	0.618038	0.23687	T	0.15412952	0.34902	0.113189064	0.27315	0.15412952	0.34902	0.113189064	0.27314	-6.781	0.52418	T	.	.	0.191	0.41016	B	.	.	3.087990	0.41569	21.4	0.99921861535109602	0.98787	0.20286	0.20984	N	AEFBI	0.259781	0.37806	N	0.201085377063605	0.51251	3.307956	0.0708622003898959	0.43090	2.618118	0.00337745803191235	0.10082	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.98	3.03	0.34070	-0.951000	0.03995	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.821000	0.38685	0.0:0.6425:0.1629:0.1946	5.771	0.17519	800	0.44535	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2521.43	86	chr11	4545686	.	C	T	2521.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.52;DP=808;ExcessHet=0;FS=9.303;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=0.229;SOR=0.795	GT:AD:DP:GQ:PL	0/1:77,87:164:99:2533,0,1954	9	0	1	0
chr11	4923436	4923436	G	A	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.C904T:p.R302C	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	.	0.0034	0.00379393	0.0040	0.0015	0.0003	0.0001	0.0009	0.0039	0.0036	0.0143	0.0041138	636	154602	rs144243455	0.0055	0.0055	0.0054	0.0056	0.0113	0.0054	0.0054	0.0107	0.0104	0.0009	0.0006	0.0003	5.069e-05	0.0014	0.0005	0.0061	0.0030	0.0113	0.0030	0.0030	0.0033	0.0028	0.0122	0.0028	0.0027	0.0097	0.0088	0.0009	0	0.0003	0.0003	0	0.0008	0	0.0052	0.0009	0.0122	.	.	.	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.002652	0.36173	U	0.000000	1	0.81001	D	2.515	0.73286	M	.	.	.	.	.	.	.	.	-0.6578	0.62373	T	0.199	0.55428	T	10	0.005875498	0.00132	T	.	.	.	.	.	.	.	.	.	0.5236365897817877	0.52287	.	.	0.276998579502	0.07078	T	0.118232	0.43889	T	-0.286632	0.09977	T	-0.175108	0.56975	T	0.0762557249681863	0.09501	T	0.844016	0.52137	T	0.32483926	0.55045	0.18967238	0.42327	0.32483926	0.55045	0.18967238	0.42326	-5.618	0.42956	T	.	.	0.101	0.17360	B	.	.	2.804916	0.36911	20.4	0.99903601541911302	0.97502	0.19977	0.20868	N	AEFBI	0.204006	0.33047	N	0.14591432350684	0.48618	3.071928	0.00939647000396068	0.40151	2.391595	7.44877031399563E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.39	3.45	0.38602	1.352000	0.33637	.	.	-1.495000	0.01039	0.014000	0.18986	0.000000	0.08366	0.050000	0.15192	0.0:0.0:0.6111:0.3889	9.345	0.37265	743	0.52768	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	1422.43	33	chr11	4923436	.	G	A	1422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.4;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.034;SOR=0.714	GT:AD:DP:GQ:PL	0/1:72,55:127:99:1434,0,1736	9	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	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	.	.	.	.	.	.	.	.	0.1875	583.44	162	chr11	5351792	.	C	G	583.44	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-4.84;DP=1627;ExcessHet=0.7463;FS=376.01;InbreedingCoeff=-0.2619;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.472;SOR=11.492	GT:AD:DP:GQ:PL	0/1:127,54:181:99:238,0,3102	5	0	3	2
chr11	5736889	5736889	C	G	exonic	OR56B1	.	nonsynonymous SNV	OR56B1:NM_001005180:exon1:c.C373G:p.L125V	.	428	1091	2	1	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	.	0.00499201	0.0033	0	8.717e-05	0	0	2.999e-05	0.0022	0.0240	0.0028137	435	154602	rs199733222	0.0014	0.0014	0.0008	0.0020	0.0215	0.0013	0.0013	0.0207	0.0203	5.974e-05	2.239e-05	0	2.521e-05	5.617e-05	0.0007	4.137e-05	0.0020	0.0215	0.0007	0.0007	0.0003	0.0011	0.0210	0.0006	0.0006	0.0176	0.0164	0	0	0	0	0	9.423e-05	0	5.881e-05	0.0009	0.0210	0.257	0.16738	T	0.283	0.21478	T	0.034	0.20480	B	0.05	0.25278	B	0.001155	0.40056	U	0.000000	0.956305	0.26303	N	0.665	0.16292	N	8.16	0.00284	T	-1.45	0.35597	N	0.126	0.11912	-0.9990	0.30199	T	0.001	0.00222	T	10	0.0045159757	0.00093	T	.	.	.	0.086	0.25016	0.52	0.62217	0.136095386433	0.13204	0.06898596960187361	0.06836	.	.	0.176439806819	0.00066	T	0.010935	0.09820	T	-0.59529	0.00156	T	-0.610284	0.11962	T	0.0245600516056853	0.01216	T	0.623338	0.24021	T	0.103497215	0.24462	0.106915556	0.25730	0.103497215	0.24462	0.106915556	0.25729	-3.873	0.21898	T	.	.	0.159	0.35098	B	.	.	-0.059148	0.03892	0.852	0.96217124139692989	0.29075	0.07628	0.13636	N	AEFGBI	0.079121	0.15975	N	-0.551171561374211	0.20447	1.077941	-0.467672504592501	0.23049	1.255031	0.986517672045379	0.31077	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.91	4.02	0.45968	-2.068000	0.01470	.	.	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.0:0.7822:0.1411:0.0767	9.795	0.39894	823	0.40596	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.007576	0.05	2923.43	40	chr11	5736889	.	C	G	2923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.402;DP=802;ExcessHet=0;FS=2.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.969;SOR=0.548	GT:AD:DP:GQ:PL	0/1:144,127:271:99:2935,0,3758	9	0	1	0
chr11	6271186	6271186	G	T	exonic	CCKBR	.	nonsynonymous SNV	CCKBR:NM_001318029:exon4:c.G735T:p.K245N,CCKBR:NM_001363552:exon4:c.G1194T:p.K398N,CCKBR:NM_176875:exon5:c.G987T:p.K329N	.	430	1083	8	1	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	0.0686532882897	7.7e-05	0.00119808	0.0008	9.773e-05	8.661e-05	0	0	0.0003	0	0.0042	0.0006468	100	154602	rs200700735	0.0004	0.0004	0.0003	0.0006	0.0046	0.0004	0.0004	0.0042	0.0041	2.987e-05	4.472e-05	0	2.519e-05	7.493e-05	0.0029	0.0001	0.0006	0.0046	0.0003	0.0003	0.0002	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	7.214e-05	0	0.0001	0	0	0	0.0034	0.0002	0.0005	0.0052	0.001	0.78490	D	0.007	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000017	0.62929	D	0.111785	0.999797	0.81001	D	3.45	0.92227	M	-0.83	0.74159	T	-4.04	0.74427	D	0.488	0.52208	0.541	0.91119	D	0.667	0.88456	D	10	0.010039538	0.00225	T	0.068653	0.70511	D	0.625	0.85511	0.648	0.78542	0.907773649182	0.90685	0.7240555432090581	0.72349	1.19436433479	0.80347	0.845506846905	0.88935	D	0.467904	0.80205	T	-0.235398	0.15940	T	-0.10968	0.62638	T	0.136935076653653	0.16008	T	0.955404	0.83015	D	0.78903484	0.83213	0.70100546	0.82382	0.78903484	0.83215	0.70100546	0.82383	-11.559	0.82637	D	.	.	0.957	0.87984	P	.;.;.	.;.;.	4.289446	0.65400	24.8	0.99861196218946624	0.94002	0.98314	0.81539	D	AEFDGBI	0.695030	0.65383	D	0.761400420006961	0.83645	8.072015	0.673871498835877	0.80397	7.290288	0.999964479433147	0.48965	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.86	4.86	0.62624	2.408000	0.44227	5.860000	0.50423	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.718	0.85259	598	0.68232	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1122.43	42	chr11	6271186	.	G	T	1122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.012;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.49;SOR=0.701	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1134,0,1251	9	0	1	0
chr11	8641006	8641006	A	T	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.T934A:p.S312T	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00416792507923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269347108	7.147e-07	6.841e-07	1.41e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.724e-05	0	6.576e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.106	0.32929	T	0.526	0.12421	T	0.003	0.11197	B	0.004	0.10090	B	0.376876	0.13446	N	0.652343	0.999998	0.08975	N	0.695	0.17993	N	2.24	0.17923	T	0.07	0.06138	N	0.119	0.17691	-0.9612	0.38955	T	0.031	0.13418	T	10	0.033076674	0.01474	T	0.004168	0.10026	T	0.068	0.19811	0.113	0.02240	0.112648838833	0.10856	0.24282499496737545	0.24196	.	.	0.343972206116	0.17031	T	0.00221	0.01614	T	-0.335849	0.05681	T	-0.709382	0.05327	T	0.0305676702409983	0.02077	T	0.517648	0.16760	T	0.05647931	0.11119	0.06795366	0.14126	0.05647931	0.11118	0.06795366	0.14125	-4.584	0.31970	T	.	.	0.069	0.07083	B	.;.;.	.;.;.	0.371406	0.07437	4.070	0.7363590055963638	0.10400	0.03378	0.08480	N	AEFDGBI	0.039410	0.05719	N	-0.973115045783596	0.09181	0.4334547	-1.02641068756921	0.09206	0.4567287	0.999970240193653	0.50053	0.566229	0.32551	0	0.615513	0.52658	0	0.769059	0.98459	0	0.528226	0.09195	0	.	.	4.58	-6.71	0.01597	-1.347000	0.02739	-0.144000	0.11487	0.691000	0.84096	0.008000	0.17931	0.006000	0.19429	0.955000	0.50612	0.269:0.3264:0.4045:0.0	8.585	0.32814	359	0.84979	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	969.43	40	chr11	8641006	.	A	T	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=474;ExcessHet=0;FS=0.819;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.762;SOR=0.532	GT:AD:DP:GQ:PL	0/1:49,38:87:99:981,0,1195	9	0	1	0
chr11	18546990	18546990	G	A	exonic	UEVLD	.	nonsynonymous SNV	UEVLD:NM_001261384:exon6:c.C386T:p.S129F,UEVLD:NM_001261382:exon7:c.C710T:p.S237F,UEVLD:NM_001261383:exon7:c.C710T:p.S237F,UEVLD:NM_001040697:exon8:c.C776T:p.S259F,UEVLD:NM_001261385:exon8:c.C662T:p.S221F,UEVLD:NM_018314:exon8:c.C776T:p.S259F	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.129833311953	.	.	8.247e-06	0	8.651e-05	0	0	0	0	0	6.5e-06	1	154602	rs764487329	1.026e-05	1.026e-05	8.168e-06	1.238e-05	0.0005	6.16e-06	4.89e-06	0.0001	7.541e-05	0	0.0001	0	0	0	0.0005	3.597e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.51853	D	0.02	0.59159	D	0.006	0.62824	B	0.01	0.59825	B	0.000065	0.52346	D	0.170690	0.997467	0.81001	D	1.61	0.41143	L	-2.35	0.88066	D	-3.04	0.62863	D	0.35	0.40963	0.599	0.91887	D	0.746	0.91344	D	10	0.35441732	0.52226	T	0.129833	0.81193	D	0.421	0.73005	0.391	0.41443	0.951309280753	0.95079	0.39889422173728595	0.39804	0.110335592621	0.12451	0.459997653961	0.33310	T	0.566792	0.85590	D	-0.0846845	0.38949	T	-0.183573	0.56191	T	0.886320412158966	0.53672	D	0.859914	0.55431	D	0.29229647	0.52205	0.24680896	0.50198	0.29229647	0.52205	0.24680896	0.50197	-6.161	0.47607	T	.	.	0.177	0.38676	B	.;.;.;.;.	.;.;.;.;.	3.849819	0.55766	23.7	0.99539901572916589	0.70461	0.90491	0.51711	D	AEFBI	0.496881	0.53164	N	0.274540039364621	0.54862	3.650867	0.404235088002068	0.61827	4.388552	0.0244315943846399	0.13578	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	3.297000	0.51517	6.668000	0.56269	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1326:0.8673:0.0	16.222	0.82086	569	0.70546	Lactate/malate dehydrogenase, N-terminal;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1349.43	34	chr11	18546990	.	G	A	1349.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.473;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.102;SOR=0.714	GT:AD:DP:GQ:PL	0/1:39,56:95:99:1361,0,833	9	0	1	0
chr11	31430384	31430384	C	T	exonic	DNAJC24	.	nonsynonymous SNV	DNAJC24:NM_181706:exon5:c.C433T:p.L145F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0243026690673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.012	0.63918	D	.	.	.	.	.	.	0.000578	0.43250	D	0.189991	0.745763	0.33872	D	.	.	.	1.45	0.32482	T	-2.07	0.47344	N	0.238	0.26837	-1.0248	0.22148	T	0.099	0.36856	T	10	0.25963157	0.43402	T	0.024303	0.47287	T	0.159	0.41286	.	.	0.483301346737	0.47961	0.628431862284808	0.62776	0.421294858915	0.42638	0.452863872051	0.32335	T	0.338285	0.70757	T	-0.181412	0.23525	T	-0.498362	0.22517	T	0.768617601559289	0.44356	D	0.743326	0.36245	T	0.093211345	0.21886	0.11312494	0.27300	0.093211345	0.21886	0.11312494	0.27300	-5.66	0.43335	T	.	.	0.223	0.45483	B	.	.	3.167548	0.42947	21.6	0.99807894123297425	0.89174	0.76642	0.37605	D	AEFBI	0.221904	0.34647	N	0.0532000653145887	0.44289	2.705728	-0.0315434559698925	0.38298	2.254394	3.01293924114846E-4	0.06454	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.42	2.23	0.27189	2.233000	0.42672	2.902000	0.35456	-0.273000	0.06669	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.3823:0.398:0.122:0.0978	2.713	0.04861	473	0.77910	Zinc finger, DPH-type|Zinc finger, DPH-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	73.14	72	chr11	31430384	.	C	T	73.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.951;DP=817;ExcessHet=0.2348;FS=248.454;InbreedingCoeff=-0.1107;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=2.32;SOR=9.541	GT:AD:DP:GQ:PL	0/1:83,33:116:22:22,0,1642	8	0	2	0
chr11	33286959	33286959	A	G	exonic	HIPK3	.	nonsynonymous SNV	HIPK3:NM_001048200:exon2:c.A545G:p.Y182C,HIPK3:NM_001278162:exon2:c.A545G:p.Y182C,HIPK3:NM_001278163:exon2:c.A545G:p.Y182C,HIPK3:NM_005734:exon2:c.A545G:p.Y182C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.126702640046	.	.	2.472e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs752935813	3.42e-06	3.42e-06	2.723e-06	4.125e-06	2.519e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	2.519e-05	0	0	3.597e-06	0	0	6.569e-06	6.566e-06	0	1.344e-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	1.0	0.97372	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.98	0.85499	M	1.66	0.27486	T	-8.49	0.97281	D	0.971	0.98368	-0.7328	0.58822	T	0.197	0.55129	T	10	0.89059246	0.88399	D	0.126703	0.80840	D	0.658	0.87184	0.625	0.76028	0.7472889995	0.74501	0.7224977637905686	0.72193	0.816940707689	0.66982	0.837248325348	0.87673	D	0.300515	0.67300	T	0.241345	0.77789	D	0.172545	0.81559	D	0.996464848518372	0.89398	D	1.000	0.99817	D	0.84535694	0.86994	0.8403728	0.90863	0.84535694	0.86996	0.8403728	0.90863	-12.869	0.88816	D	.	.	0.977	0.90609	P	.;.;.;.	.;.;.;.	5.061859	0.84376	28.3	0.99791415193557076	0.87750	0.99600	0.97861	D	AEFDGBI	0.898195	0.84121	D	0.822999214786218	0.87522	9.247071	0.802877498482431	0.89994	10.20953	0.99999999994525	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	9.325000	0.96006	11.266000	0.91241	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.879	0.78971	380	0.83728	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2991.43	39	chr11	33286959	.	A	G	2991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.187;DP=591;ExcessHet=0;FS=6.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.14;SOR=0.875	GT:AD:DP:GQ:PL	0/1:122,122:244:99:3003,0,3012	9	0	1	0
chr11	47571617	47571617	T	G	exonic	PTPMT1	.	nonsynonymous SNV	PTPMT1:NM_175732:exon4:c.T594G:p.I198M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00396339789463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.33418	T	0.298	0.48336	T	0.09	0.25173	B	0.052	0.25551	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.76	0.25996	T	1.04	0.05604	N	0.15	0.15328	-0.9972	0.30701	T	0.023	0.09832	T	9	0.052417547	0.05273	T	0.003963	0.09368	T	0.021	0.04004	0.275	0.22687	0.16115917748	0.15686	0.1094848881212241	0.10877	0.50408299228	0.48702	0.263093531132	0.05264	T	0.07042	0.33956	T	-0.360021	0.04129	T	-0.754922	0.03297	T	0.0510310969506103	0.05680	T	.	.	.	0.03151714	0.03006	0.04854679	0.07233	0.03151714	0.03006	0.04854679	0.07232	-4.463	0.30401	T	.	.	0.088	0.11749	B	.;.	.;.	-0.689015	0.01346	0.075	0.43363845373337367	0.03260	0.01825	0.05669	N	AEFDBI	0.074064	0.14834	N	-1.59378949138686	0.01296	0.05642188	-1.64993457112733	0.01376	0.0621655	0.999999704946591	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.5	-6.44	0.01749	-1.307000	0.02841	-1.872000	0.04576	-0.787000	0.03278	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2858:0.1188:0.3478:0.2475	1.435	0.02200	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	708.43	33	chr11	47571617	.	T	G	708.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.444;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.689;SOR=0.629	GT:AD:DP:GQ:PL	0/1:40,30:70:99:720,0,1036	9	0	1	0
chr11	47590168	47590168	C	T	exonic	C1QTNF4	.	nonsynonymous SNV	C1QTNF4:NM_031909:exon2:c.G643A:p.D215N	.	.	.	.	.	.	.	.	.	.	.	2398513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.71343761658	0.0002	.	0.0002	0	0	0	0.0003	0.0003	0	8.531e-05	0.0001164	18	154602	rs200374127	0.0001	0.0001	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	4.663e-05	0.0004	2.541e-05	0.0001	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	9.793e-05	8.3e-05	0.0001	0.0001	2.422e-05	0	0.0002	0.0003	0	0.0002	0	0.0002	0	0	0.931	0.02245	T	1.0	0.01155	T	0.16	0.28337	B	0.048	0.24975	B	0.000004	0.62929	U	0.058649	0.969548	0.38735	D	-0.46	0.02758	N	-2.01	0.85468	D	0.9	0.01618	N	0.162	0.17002	-0.7392	0.58493	T	0.238	0.60559	T	10	0.15834075	0.29778	T	0.713438	0.97672	D	0.265	0.57870	.	.	0.390292564088	0.38643	0.39045763158092606	0.38960	.	.	0.880396127701	0.94013	D	0.083139	0.36987	T	-0.328222	0.06246	T	-0.434945	0.29375	T	0.0710578560829163	0.08799	T	.	.	.	0.08825126	0.20580	0.067840435	0.14089	0.08825126	0.20580	0.067840435	0.14088	-8.944	0.67336	D	.	.	0.142	0.31203	B	.	.	3.389823	0.46927	22.4	0.97912185458760159	0.36822	0.60273	0.31149	D	AEFDBCI	.	.	.	-0.29066110533768	0.29508	1.636986	-0.0765843804772436	0.36361	2.115071	0.999999998275027	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.618803	0.45993	0	.	.	4.32	4.32	0.50899	4.828000	0.62420	4.652000	0.44201	0.506000	0.23061	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.7415:0.0:0.2585	6.009	0.18790	10	0.99061	C1q domain|C1q domain|C1q 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	0.000509	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	1181.43	33	chr11	47590168	.	C	T	1181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=397;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.23;SOR=0.837	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1193,0,765	9	0	1	0
chr11	47980978	47980980	GCT	-	exonic	PTPRJ	.	nonframeshift deletion	PTPRJ:NM_001098503:exon1:c.66_68del:p.L28del,PTPRJ:NM_002843:exon1:c.66_68del:p.L28del	Colon cancer, somatic	322	1192	8	0	0	8	0.00334448	.	.	.	3511870	PTPRJ-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	0	3.84e-05	1	26028	rs747484779	0.0005	0.0063	0.0004	0.0005	0.0020	0.0004	0.0004	0.0012	0.0010	0.0006	0.0020	0.0013	0.0013	0.0014	0.0011	0.0004	0.0007	0.0004	5.448e-05	0.0002	5.308e-05	5.596e-05	0.0004	2.639e-05	1.889e-05	7.424e-05	3.079e-05	4.938e-05	0	6.709e-05	0	0.0004	0.0001	0	3.015e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011416	0.000000	0.024390	0.014706	0.000000	0.000000	0.000000	0.017857	0.05	55.43	6	chr11	47980977	.	CGCT	C	55.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.619;DP=42;ExcessHet=0;FS=0;InbreedingCoeff=-0.0844;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.619;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,2:8:66:66,0,246	9	0	1	0
chr11	55555249	55555249	C	T	exonic	OR4C15	.	nonsynonymous SNV	OR4C15:NM_001001920:exon1:c.C781T:p.P261S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00252046330855	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214003487	6.841e-06	6.84e-06	8.168e-06	5.501e-06	0.0003	3.46e-06	2.52e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	2.698e-06	6.623e-05	1.159e-05	6.576e-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	0.547	0.06648	T	0.666	0.06386	T	0.08	0.24543	B	0.119	0.32162	B	.	.	.	.	0.979192	0.25198	N	-0.235	0.03917	N	8.77	0.00063	T	-1.36	0.33798	N	0.087	0.06454	-1.1176	0.02489	T	0.000	0.00075	T	9	0.043889076	0.03287	T	0.00252	0.05037	T	0.133	0.36157	0.245	0.17984	0.0551355673512	0.04727	0.03566131936480387	0.03513	.	.	0.239220887423	0.02721	T	.	.	.	-0.257634	0.13178	T	-0.592364	0.13461	T	0.149723064604183	0.17081	T	0.0916908	0.00679	T	0.040305063	0.05729	0.12787752	0.30775	0.040305063	0.05728	0.12787752	0.30774	-3.069	0.10943	T	.	.	0.121	0.25199	B	.;.	.;.	0.988495	0.13663	10.20	0.43222020485584789	0.03239	0.08827	0.14698	N	AEFI	0.059777	0.11316	N	-1.00706700830954	0.08456	0.3965698	-0.86799650559683	0.12856	0.6637153	6.67513770717117E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	4.09	0.47038	-0.935000	0.04059	-20.000000	0.00162	0.438000	0.21043	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.0:0.8383:0.1617:0.0	13.170	0.59017	145	0.94217	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2198.43	34	chr11	55555249	.	C	T	2198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.431;DP=551;ExcessHet=0;FS=2.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.38;SOR=0.522	GT:AD:DP:GQ:PL	0/1:102,88:190:99:2210,0,2732	9	0	1	0
chr11	55994391	55994391	G	A	exonic	OR5F1	.	nonsynonymous SNV	OR5F1:NM_003697:exon1:c.C235T:p.P79S	.	430	1052	40	0	0	40	0.0186567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	.	0.0025	0.00339457	0.0045	0.0010	0.0032	0	0.0006	0.0044	0.0088	0.0115	0.0041461	641	154602	rs144123172	0.0036	0.0036	0.0033	0.0039	0.0125	0.0035	0.0035	0.0114	0.0111	0.0006	0.0028	0.0146	0	0.0005	0.0125	0.0030	0.0044	0.0120	0.0031	0.0031	0.0032	0.0030	0.0098	0.0029	0.0028	0.0075	0.0067	0.0008	0	0.0046	0.0115	0.0002	0.0003	0	0.0040	0.0038	0.0098	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999765	0.48888	D	3.415	0.91848	M	4.6	0.01868	T	-7.33	0.94566	D	0.434	0.47301	-1.0590	0.12007	T	0.024	0.10013	T	9	0.008101344	0.00184	T	.	.	.	0.341	0.66297	.	.	0.553913597673	0.55050	0.32035287559718434	0.31948	0.0793572366355	0.08926	0.259348064661	0.04813	T	0.044532	0.26845	T	-0.320121	0.06888	T	-0.22222	0.52522	T	0.0579174086102847	0.06836	T	0.908909	0.67748	D	0.80138326	0.83994	0.58413935	0.75887	0.80138326	0.83995	0.58413935	0.75888	-8.388	0.63686	D	.	.	0.386	0.58785	A	.	.	3.739859	0.53550	23.4	0.99841104463419506	0.92143	0.99097	0.91181	D	AEFI	0.600502	0.59311	D	0.645069260386401	0.76049	6.415539	0.446268625743228	0.64478	4.703868	0.893234601683298	0.25901	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.03	3.03	0.34070	6.955000	0.75805	3.671000	0.39437	0.312000	0.19173	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.0:1.0:0.0	12.892	0.57469	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.014946	0.002924	0.000000	0.008621	0.012270	0.034091	0.1	3974.14	70	chr11	55994391	.	G	A	3974.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.65;DP=631;ExcessHet=0.2348;FS=3.366;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.01;MQRankSum=-0.456;QD=14.83;ReadPosRankSum=-0.727;SOR=0.778	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1460,0,1421	8	0	2	0
chr11	58203261	58203261	A	C	exonic	OR1S2	.	nonsynonymous SNV	OR1S2:NM_001004459:exon1:c.T921G:p.N307K	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.005240273836	.	.	2.475e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs763409636	2.736e-05	2.736e-05	2.042e-05	3.438e-05	0.0010	2.063e-05	1.816e-05	0.0005	0.0003	0	0	0	0	0	0.0010	8.993e-06	9.937e-05	0.0002	1.971e-05	1.97e-05	0	4.036e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000066	0.52346	D	0.000000	0.951368	0.26474	N	3.44	0.92123	M	0.76	0.49919	T	-4.61	0.79060	D	0.771	0.76853	-0.5780	0.65696	T	0.366	0.72643	T	10	0.68556035	0.71540	D	0.00524	0.13371	T	0.245	0.55201	0.82	0.93328	0.641312022691	0.63835	0.177284372935808	0.17647	0.0212160073365	0.02100	.	.	.	0.014395	0.12263	T	-0.270097	0.11747	T	-0.333603	0.41067	T	0.833222495323376	0.48783	D	0.911709	0.68653	D	0.909728	0.92269	0.8415103	0.90938	0.909728	0.92270	0.8415103	0.90938	-8.3	0.63095	D	.	.	0.303	0.53229	B	.;.	.;.	3.107711	0.41911	21.4	0.99545867742817873	0.70836	0.71601	0.35084	D	AEGI	0.271092	0.38702	N	0.261263322994279	0.54198	3.586061	0.0760662620227048	0.43348	2.638426	7.07650634000911E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	-0.32	0.12090	0.345000	0.19720	-0.040000	0.12681	-0.137000	0.12594	0.639000	0.28076	0.006000	0.19429	0.995000	0.73285	0.4334:0.0:0.5666:0.0	9.252	0.36720	360	0.84920	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2603.43	35	chr11	58203261	.	A	C	2603.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.582;DP=538;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.54;MQRankSum=-1.934;QD=11.83;ReadPosRankSum=0.721;SOR=0.607	GT:AD:DP:GQ:PL	0/1:117,103:220:99:2615,0,3124	9	0	1	0
chr11	58624310	58624310	G	A	exonic	CNTF	.	nonsynonymous SNV	CNTF:NM_000614:exon2:c.G391A:p.E131K	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0156769220911	.	0.000399361	0.0003	0	8.658e-05	0	0	0.0001	0	0.0019	0.0002846	44	154602	rs202082223	0.0002	0.0002	0.0002	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	2.987e-05	0.0001	3.826e-05	0	5.616e-05	0.0040	9.982e-05	0.0003	0.0017	0.0001	0.0001	0.0001	0.0001	0.0019	7.591e-05	6.293e-05	0.0010	0.0007	0	0	0	0	0.0002	0	0	0.0001	0.0005	0.0019	0.072	0.34982	T	0.225	0.25514	T	0.872	0.47902	P	0.556	0.49411	P	.	.	.	.	0.915232	0.27418	N	2.4	0.69460	M	1.25	0.36512	T	-1.6	0.38540	N	0.17	0.18103	-0.9621	0.38781	T	0.125	0.43049	T	9	0.019503176	0.00436	T	0.015677	0.36546	T	0.102	0.29158	.	.	0.696112660581	0.69349	0.27168748576247176	0.27081	0.168020938621	0.18945	0.434865087271	0.29874	T	0.251565	0.62184	T	-0.422948	0.01638	T	-0.387575	0.34836	T	0.0783024345760878	0.09768	T	0.835616	0.50622	T	0.38231814	0.59484	0.3192124	0.57884	0.38231814	0.59484	0.3192124	0.57883	-4.388	0.29394	T	.	.	0.144	0.31733	B	.	.	3.809875	0.54942	23.5	0.9987914352735181	0.95572	0.74187	0.36288	D	AEFBCI	0.102726	0.20599	N	0.397614660401001	0.61293	4.328381	0.418474032510477	0.62716	4.491794	0.999967803469381	0.48965	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	5.48	5.48	0.80675	2.142000	0.41802	8.694000	0.78086	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.918000	0.45347	0.0893:0.0:0.9107:0.0	10.380	0.43287	635	0.64580	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004663	0.000000	0.006793	0.000000	0.000000	0.008621	0.006098	0.003788	0.05	2382.43	33	chr11	58624310	.	G	A	2382.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.08;DP=485;ExcessHet=0;FS=2.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.151;SOR=0.984	GT:AD:DP:GQ:PL	0/1:70,84:154:99:2394,0,1737	9	0	1	0
chr11	59422188	59422188	C	A	exonic	OR5A2	.	stopgain	OR5A2:NM_001001954:exon1:c.G766T:p.G256X	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0011	0.0001876	29	154602	rs559985281	0.0002	0.0002	0.0001	0.0002	0.0036	0.0002	0.0002	0.0024	0.0020	0	0	0	0	0	0.0036	9.622e-05	0.0003	0.0014	5.91e-05	5.906e-05	5.139e-05	6.715e-05	0.0006	3.075e-05	2.209e-05	0.0002	8.996e-05	0	0	0	0	0	0	0.0034	5.88e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.003128	0.35389	U	0.000000	0.999995	0.58761	D	.	.	.	.	.	.	.	.	.	0.011	0.00110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0676132	0.60556	T	0.288967	0.87607	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.485643	0.96565	36	0.99048693141238853	0.51207	0.06789	0.12812	N	AEFGI	0.055141	0.10087	N	0.398573761306081	0.61344	4.334304	0.106522215291718	0.44881	2.761	0.00106334014151025	0.08183	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.56	3.68	0.41359	-1.606000	0.02175	-3.494000	0.02744	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.0:0.7317:0.0:0.2683	7.429	0.26288	265	0.89590	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2449.43	39	chr11	59422188	.	C	A	2449.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.18;DP=559;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.312;SOR=0.663	GT:AD:DP:GQ:PL	0/1:107,91:198:99:2461,0,2718	9	0	1	0
chr11	61006595	61006595	C	G	exonic	CD6	.	nonsynonymous SNV	CD6:NM_001254750:exon2:c.C71G:p.P24R,CD6:NM_001254751:exon2:c.C71G:p.P24R,CD6:NM_006725:exon2:c.C71G:p.P24R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0145307976671	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214557753	3.43e-06	3.42e-06	1.364e-06	5.522e-06	0.0005	1.01e-06	7.3e-07	0.0001	7.55e-05	0	0	0	0	0	0.0005	9.007e-07	0	1.179e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.63226	T	0.47	0.13365	T	0.808	0.47319	P	0.299	0.41603	B	0.358769	0.13702	N	0.547984	1	0.08975	N	-0.345	0.03330	N	4.91	0.01430	T	-1.38	0.34795	N	0.194	0.22870	-0.7852	0.56007	T	0.003	0.00897	T	10	0.06674245	0.09198	T	0.014531	0.34707	T	0.042	0.11227	0.222	0.14518	0.407082143382	0.40323	0.2734572702565238	0.27258	1.04221563475	0.75838	0.284462064505	0.08123	T	0.007536	0.16749	T	-0.158117	0.27050	T	-0.4649	0.26067	T	0.163642745018176	0.18137	T	0.667533	0.27667	T	0.05406819	0.10323	0.17061506	0.39184	0.05406819	0.10323	0.17061506	0.39183	-4.758	0.34098	T	.	.	0.084	0.13409	B	.;.;.;.;.	.;.;.;.;.	1.376338	0.17874	13.42	0.7234419688374194	0.09940	0.11741	0.16832	N	AEFDBI	0.061015	0.11636	N	-0.776418063862599	0.13925	0.6896988	-0.804744118477226	0.14382	0.7511065	0.999305684534294	0.39077	0.0	0.00013	3	0.0	0.00010	3	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.94	3.03	0.34070	1.063000	0.30177	3.887000	0.40272	0.599000	0.40250	0.001000	0.13787	0.176000	0.23382	0.012000	0.09680	0.0:0.8966:0.0:0.1034	9.480	0.38058	531	0.73574	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	691.43	34	chr11	61006595	.	C	G	691.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.825;DP=384;ExcessHet=0;FS=2.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.75;SOR=0.39	GT:AD:DP:GQ:PL	0/1:31,31:62:99:703,0,768	9	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	1996.68	82	chr11	61740527	.	G	C	1996.68	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.572;DP=871;ExcessHet=4.5998;FS=250.847;InbreedingCoeff=-0.5345;MLEAC=7;MLEAF=0.438;MQ=59.99;MQRankSum=0;QD=3.38;ReadPosRankSum=2.09;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,20:122:15:0|1:61740526_G_T:15,0,3379:61740526	2	0	6	2
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4287.03	85	chr11	61740531	.	T	C	4287.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.113;DP=1125;ExcessHet=22.563;FS=268.204;InbreedingCoeff=-0.9992;MLEAC=10;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=3.99;ReadPosRankSum=1.35;SOR=10.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,20:119:24:0|1:61740526_G_T:24,0,3311:61740526	0	0	10	0
chr11	62627118	62627118	G	A	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_001278193:exon16:c.C1910T:p.A637V,GANAB:NM_001278192:exon17:c.C1976T:p.A659V,GANAB:NM_001278194:exon18:c.C1961T:p.A654V,GANAB:NM_001329222:exon19:c.C1961T:p.A654V,GANAB:NM_001329223:exon19:c.C1961T:p.A654V,GANAB:NM_001329224:exon19:c.C1529T:p.A510V,GANAB:NM_001329225:exon19:c.C1529T:p.A510V,GANAB:NM_198334:exon19:c.C2252T:p.A751V,GANAB:NM_198335:exon20:c.C2318T:p.A773V	Polycyctic kidney disease 3, Autosomal dominant	427	1094	1	0	0	1	0.00045683	.	.	.	1971661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.512	0.232496287012	7.7e-05	.	2.476e-05	9.675e-05	0	0	0	3.002e-05	0	0	1.94e-05	3	154602	rs140219733	2.26e-05	2.531e-05	2.18e-05	2.34e-05	0.0001	1.612e-05	1.418e-05	3.983e-05	2.374e-05	0.0001	0	0	0	1.873e-05	0	2.161e-05	3.314e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.49117	D	0.176	0.33219	T	0.584	0.53072	P	0.157	0.51788	B	0.000789	0.41772	N	0.235176	0.979622	0.39581	D	3.855	0.95805	H	-2.93	0.91800	D	-2.66	0.60665	D	0.241	0.31140	0.786	0.94240	D	0.812	0.93657	D	10	0.6512936	0.69618	D	0.232496	0.88324	D	0.512	0.79094	.	.	0.713009302571	0.71049	0.6707139369726743	0.67009	0.226289450502	0.25184	0.458882957697	0.33157	T	0.765976	0.93698	D	-0.0539855	0.43840	T	-0.133176	0.60704	T	0.929751217365265	0.59401	D	0.985501	0.95103	D	0.10939872	0.25863	0.14655776	0.34717	0.10939872	0.25862	0.14655776	0.34716	-8.979	0.68299	D	0.4632212839181675	0.54503	0.176	0.38498	B	.;.;.;.;.	.;.;.;.;.	3.674257	0.52266	23.2	0.99802363083835433	0.88728	0.96629	0.70104	D	AEFBI	0.758157	0.69689	D	0.48429039477098	0.66171	4.91594	0.475754473120397	0.66388	4.94545	0.998547985353306	0.37167	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	4.6	0.56512	4.708000	0.61548	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0833:0.0:0.9167:0.0	11.870	0.51795	244	0.90442	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1987.43	36	chr11	62627118	.	G	A	1987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.32;DP=492;ExcessHet=0;FS=7.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-1.299;SOR=0.324	GT:AD:DP:GQ:PL	0/1:71,73:144:99:1999,0,2001	9	0	1	0
chr11	62981322	62981322	C	T	exonic	SLC22A6	.	nonsynonymous SNV	SLC22A6:NM_004790:exon5:c.G859A:p.A287T,SLC22A6:NM_153276:exon5:c.G859A:p.A287T,SLC22A6:NM_153277:exon5:c.G859A:p.A287T,SLC22A6:NM_153278:exon5:c.G859A:p.A287T	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00839810178884	7.7e-05	0.000399361	0.0008	0	0	0.0004	0	0.0001	0.0022	0.0038	0.0004075	63	154602	rs377725235	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0032	6e-05	0	0	2.54e-05	0	0.0017	7.676e-05	0.0002	0.0036	9.206e-05	9.188e-05	5.145e-05	0.0001	0.0017	5.532e-05	4.368e-05	0.0008	0.0006	4.822e-05	0	6.547e-05	0	0.0002	0	0	2.943e-05	0	0.0017	0.639	0.05584	T	0.546	0.10281	T	0.001	0.09854	B	0.003	0.13708	B	0.055779	0.22615	N	0.502163	1	0.08975	N	0.345	0.11182	N	-0.78	0.73631	T	0.27	0.04861	N	0.205	0.26475	-0.9949	0.31326	T	0.148	0.47451	T	10	0.009175301	0.00207	T	0.008398	0.22231	T	0.045	0.12272	.	.	0.187945064343	0.18414	0.06144112278218523	0.06084	0.178367345857	0.20065	0.346624046564	0.17424	T	0.171448	0.51958	T	-0.46976	0.00853	T	-0.449975	0.27699	T	0.0270712122040462	0.01555	T	0.129687	0.01018	T	0.047104087	0.07995	0.061183076	0.11772	0.047104087	0.07994	0.061183076	0.11772	-2.92	0.17438	T	.	.	0.074	0.14247	B	.;.;.;.	.;.;.;.	1.130628	0.15173	11.64	0.89162773506726101	0.18564	0.02691	0.07330	N	AEFDBI	0.029452	0.02782	N	-1.07863236777289	0.07038	0.3257708	-1.02210883127084	0.09299	0.4618861	0.0168524500815573	0.12882	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	-0.169	0.12685	0.282000	0.18587	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.979000	0.57723	0.0:0.5838:0.0:0.4162	8.626	0.33054	804	0.43891	.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.001362	0.000000	0.000000	0.000000	0.003067	0.003788	0.05	1674.43	33	chr11	62981322	.	C	T	1674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.242;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.229;SOR=0.693	GT:AD:DP:GQ:PL	0/1:68,68:136:99:1686,0,1735	9	0	1	0
chr11	64344322	64344322	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon14:c.G1781A:p.R594H	.	426	1012	80	4	0	88	0.0416667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0072	0.00798722	0.0107	0.0015	0.0025	0.0002	0.0059	0.0092	0.0213	0.0359	0.0101422	1568	154602	rs74511597	0.0100	0.0100	0.0089	0.0111	0.0371	0.0099	0.0098	0.0361	0.0356	0.0010	0.0030	0.0038	0.0002	0.0082	0.0172	0.0090	0.0095	0.0371	0.0072	0.0072	0.0067	0.0077	0.0329	0.0068	0.0067	0.0288	0.0272	0.0013	0.0252	0.0039	0.0040	0.0004	0.0056	0.0068	0.0104	0.0066	0.0329	0.698	0.04200	T	0.737	0.05036	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	2.59	0.00213	N	0.005	0.00034	-1.0565	0.12646	T	0.008	0.02884	T	9	0.0019658506	0.00027	T	.	.	.	0.007	0.00512	.	.	.	.	0.18676610198172622	0.18594	0.318130370587	0.34044	0.253022998571	0.04093	T	0.00132	0.00800	T	-0.713434	0.00030	T	-0.771813	0.02709	T	0.000664777419222277	0.00006	T	0.210879	0.02555	T	0.014778137	0.00107	0.023305833	0.00345	0.014778137	0.00107	0.023305833	0.00344	-3.914	0.22512	T	.	.	0.059	0.00820	B	.	.	-1.216232	0.00515	0.012	0.26890395915027226	0.01309	0.00549	0.02518	N	AEFDGBI	0.024649	0.01560	N	-2.41341640516398	0.00025	0.001092386	-2.46920267428745	0.00027	0.001200507	0.999999999998934	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	3.78	-7.57	0.01176	-1.719000	0.01973	-3.423000	0.02798	-1.923000	0.00505	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2231:0.3559:0.2338:0.1872	1.682	0.02662	596	0.68392	.	.	.	.	.	rs74511597	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.005051	0.010870	0.014620	0.100000	0.000000	0.030488	0.037879	0.05	748.43	34	chr11	64344322	.	G	A	748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.779;DP=398;ExcessHet=0;FS=1.013;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.324;SOR=0.968	GT:AD:DP:GQ:PL	0/1:35,29:64:99:760,0,948	9	0	1	0
chr11	64352209	64352209	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon19:c.C3179T:p.A1060V	.	417	1026	75	4	0	83	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	0.0069	0.00798722	0.0113	0.0017	0.0027	0.0001	0.0031	0.0093	0.0241	0.0396	0.009366	1448	154602	rs148331635	0.0095	0.0095	0.0085	0.0106	0.0373	0.0094	0.0093	0.0362	0.0357	0.0011	0.0029	0.0024	7.638e-05	0.0028	0.0172	0.0087	0.0090	0.0373	0.0062	0.0062	0.0059	0.0065	0.0328	0.0059	0.0058	0.0286	0.0270	0.0013	0.0253	0.0039	0.0026	0.0002	0.0014	0.0068	0.0089	0.0066	0.0328	1.0	0.00964	T	0.235	0.44501	T	0.99	0.63424	D	0.824	0.59271	P	.	.	.	.	0.992665	0.41708	D	1.67	0.42885	L	1.79	0.48142	T	-1.27	0.31981	N	0.425	0.46462	-0.9354	0.43333	T	0.145	0.46805	T	9	0.0042512417	0.00085	T	.	.	.	0.138	0.37187	.	.	0.383921772103	0.37999	0.14051853398084002	0.13974	0.908464596018	0.70945	0.590660095215	0.51587	T	0.001801	0.01223	T	-0.45454	0.01062	T	-0.399232	0.33472	T	0.0128007701019311	0.00218	T	0.827517	0.49142	T	0.09841398	0.23212	0.08995448	0.21065	0.09841398	0.23211	0.08995448	0.21065	-5.196	0.38901	T	.	.	0.203	0.42806	B	.;.	.;.	3.373430	0.46632	22.3	0.93095668118017671	0.22722	0.36718	0.25598	N	AEFDGBCI	0.187824	0.31511	N	-0.0743069484477291	0.38522	2.257493	-0.193573536744565	0.31772	1.801206	0.999998714846914	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.87	4.87	0.62877	0.279000	0.18532	5.827000	0.50131	0.519000	0.23678	0.002000	0.15269	1.000000	0.68203	0.001000	0.02609	0.0:1.0:0.0:0.0	13.511	0.60969	461	0.78683	.;.	.	.	.	.	rs148331635	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018274	0.005208	0.010870	0.008772	0.100000	0.000000	0.037037	0.038168	0.05	810.43	34	chr11	64352209	.	C	T	810.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.845;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.25;SOR=0.671	GT:AD:DP:GQ:PL	0/1:41,36:77:99:822,0,1144	9	0	1	0
chr11	65379444	65379444	C	T	exonic	SLC25A45	.	nonsynonymous SNV	SLC25A45:NM_001278250:exon3:c.G199A:p.E67K,SLC25A45:NM_001077241:exon4:c.G145A:p.E49K,SLC25A45:NM_001352381:exon4:c.G271A:p.E91K,SLC25A45:NM_001352382:exon5:c.G145A:p.E49K,SLC25A45:NM_182556:exon5:c.G271A:p.E91K,SLC25A45:NM_001278251:exon8:c.G145A:p.E49K	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0644417284628	8.1e-05	0.000399361	0.0002	0	0	0.0002	0	0.0003	0	0	0.0001423	22	154602	rs368628188	4.379e-05	4.378e-05	4.085e-05	4.676e-05	0.0001	3.509e-05	3.193e-05	4.907e-05	3.371e-05	0	2.237e-05	0	0.0001	0	0	4.766e-05	8.279e-05	0	2.625e-05	2.624e-05	1.284e-05	4.027e-05	0.0004	8.14e-06	5.14e-06	6.82e-05	2.855e-05	0	0	0	0	0.0004	0	0	2.94e-05	0	0	0.107	0.39097	T	0.6	0.17425	T	0.129	0.27048	B	0.045	0.34106	B	0.128102	0.18743	N	0.542615	0.767131	0.81001	D	1.15	0.29295	L	-1.13	0.77719	T	-1.4	0.37178	N	0.317	0.36884	-0.7418	0.58360	T	0.242	0.61060	T	10	0.034680873	0.01686	T	0.064442	0.69278	D	0.135	0.36572	.	.	0.156986980423	0.15292	0.34782442305631417	0.34696	0.235738177171	0.26110	0.382041633129	0.22546	T	0.006294	0.05726	T	-0.230862	0.16535	T	-0.304966	0.44198	T	0.0363433120910918	0.03040	T	0.869013	0.57273	D	0.067124784	0.14508	0.07486147	0.16422	0.067124784	0.14508	0.07486147	0.16422	-8.195	0.62392	D	.	.	0.142	0.35788	B	.;.;.;.;.	.;.;.;.;.	1.876521	0.23837	16.17	0.99185348382693972	0.54819	0.84472	0.43554	D	AEFDBI	0.351423	0.44453	N	-0.493575738412436	0.22291	1.189214	-0.381730130697409	0.25542	1.405273	0.999776226083396	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.66	2.6	0.30173	0.357000	0.19935	1.336000	0.25703	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.214000	0.22296	0.0:0.5656:0.4344:0.0	10.431	0.43595	274	0.89249	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2197.43	36	chr11	65379444	.	C	T	2197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.825;DP=497;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.157;SOR=0.678	GT:AD:DP:GQ:PL	0/1:73,91:164:99:2209,0,1631	9	0	1	0
chr11	65636776	65636776	-	CCTCAG	exonic	PCNX3	.	nonframeshift insertion	PCNX3:NM_032223:exon35:c.5903_5904insCCTCAG:p.S1978_P1979insLS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	rs779924412	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0004	6.205e-05	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.905e-05	0.0001	8.52e-05	9.954e-05	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1047.39	34	chr11	65636776	.	A	ACCTCAG	1047.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=396;ExcessHet=0;FS=3.524;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.333;SOR=0.883	GT:AD:DP:GQ:PL	0/1:33,28:61:99:1059,0,1270	9	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	928.21	47	chr11	66863811	.	C	T	928.21	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.219;DP=1024;ExcessHet=4.5998;FS=159.643;InbreedingCoeff=-0.4326;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.45;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,42:136:99:.:.:101,0,1731:.	4	0	6	0
chr11	68406610	68406610	G	A	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_001291902:exon9:c.G145A:p.G49S,LRP5:NM_002335:exon9:c.G1888A:p.G630S	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	0	1521	1	0	0	1	0.000328623	.	.	.	1507373	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.961	0.750079859005	.	.	8.257e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs777141177	1.231e-05	1.231e-05	1.634e-05	8.251e-06	1.079e-05	7.7e-06	6.35e-06	5.75e-06	4.55e-06	0	0	0	0	5.622e-05	0	1.079e-05	4.967e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.008	0.67890	D	1.0	0.90584	D	0.969	0.72001	D	0.000142	0.49130	U	0.000000	1	0.81001	D	3.88	0.95983	H	-4.81	0.98183	D	-4.16	0.75375	D	0.849	0.84505	1.074	0.98693	D	0.973	0.99162	D	10	0.9612856	0.95541	D	0.75008	0.98006	D	0.961	0.99405	.	.	0.906111802265	0.90518	0.8215659109389193	0.82113	1.229058174	0.81290	0.730978488922	0.71649	T	0.943588	0.99133	D	0.526198	0.95051	D	0.533556	0.95274	D	0.994352579116821	0.85594	D	0.967503	0.88224	D	0.6714193	0.76509	0.72425675	0.83714	0.6714193	0.76510	0.72425675	0.83715	-9.438	0.70473	D	0.6082698881644251	0.67568	0.243	0.47741	B	.	.	5.395809	0.90374	31	0.99879078431644108	0.95572	0.98917	0.88597	D	AEFGBI	0.942957	0.94818	D	0.94013147025483	0.93583	12.13589	0.825958837764666	0.91537	10.93733	0.999999999753656	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.11	4.11	0.47350	9.738000	0.98046	11.683000	0.94248	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	16.950	0.86112	658	0.62094	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2204.43	37	chr11	68406610	.	G	A	2204.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.377;DP=448;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=-0.306;SOR=0.612	GT:AD:DP:GQ:PL	0/1:58,86:144:99:2216,0,1340	9	0	1	0
chr11	70485536	70485536	G	A	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon10:c.C2993T:p.P998L,SHANK2:NM_001379226:exon15:c.C3620T:p.P1207L,SHANK2:NM_012309:exon25:c.C4757T:p.P1586L	.	0	1510	12	0	0	12	0.00395778	.	.	.	429300	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.243	0.00736897601375	0.0005	0.000798722	0.0009	0.0003	0.0020	0.0001	0.0002	0.0008	0.0034	0.0011	0.0007438	115	154602	rs141276059	0.0005	0.0005	0.0005	0.0006	0.0061	0.0005	0.0005	0.0045	0.0039	8.965e-05	0.0012	0.0002	7.558e-05	7.669e-05	0.0061	0.0005	0.0007	0.0010	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0007	0	0.0002	9.413e-05	0.0034	0.0006	0.0014	0.0010	0.282	0.15406	T	0.213	0.32783	T	1.0	0.90584	D	0.965	0.71173	D	0.002364	0.36688	N	0.303615	1	0.81001	D	.	.	.	2.3	0.16953	T	-2.08	0.51968	N	0.706	0.70966	-0.6621	0.62183	T	0.267	0.63802	T	10	0.020084053	0.00457	T	0.007369	0.19550	T	0.243	0.54921	.	.	0.407756890619	0.40387	0.44224824751881076	0.44141	1.08839014556	0.77365	0.560610234737	0.47354	T	0.081632	0.44803	T	-0.368601	0.03665	T	-0.34278	0.40030	T	0.0466424202302685	0.04900	T	0.923008	0.73814	D	.	.	.	.	.	.	.	.	-5.112	0.38033	T	.	.	0.082	0.09336	B	.;.;.;.;.	.;.;.;.;.	4.606448	0.73013	25.9	0.99871771017845923	0.94902	0.99726	0.98997	D	AEFBI	0.936848	0.93377	D	0.721045257409842	0.81010	7.423541	0.668676826902273	0.80008	7.204466	0.999999995611223	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	9.075000	0.93411	9.784000	0.81612	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:0.0:1.0:0.0	19.230	0.93824	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	0	0	1	0	0.005035	0.000000	0.005435	0.008772	0.000000	0.000000	0.006098	0.003788	0.05	5247.43	42	chr11	70485536	.	G	A	5247.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.696;DP=655;ExcessHet=0;FS=4.351;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.588;SOR=0.496	GT:AD:DP:GQ:PL	0/1:141,193:334:99:5259,0,3647	9	0	1	0
chr11	71549005	71549007	CTC	-	exonic	KRTAP5-9	.	nonframeshift deletion	KRTAP5-9:NM_005553:exon1:c.348_350del:p.S119del	.	408	1111	2	0	1	3	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	1.371e-06	1.37e-06	0	2.756e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5005.39	34	chr11	71549004	.	GCTC	G	5005.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.212;DP=760;ExcessHet=0;FS=1.424;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=0.923;QD=17.44;ReadPosRankSum=0.957;SOR=0.809	GT:AD:DP:GQ:PL	0/1:156,131:287:99:5017,0,6076	9	0	1	0
chr11	75439957	75439957	G	A	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon11:c.C1064T:p.P355L,GDPD5:NM_030792:exon15:c.C1478T:p.P493L,GDPD5:NM_001351168:exon16:c.C743T:p.P248L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532	0.182495860997	7.7e-05	0.000399361	0.0004	0	0.0003	0.0026	0	0.0002	0	0.0010	0.000401	62	154602	rs376725732	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0011	0.0010	0.0002	0.0002	0	0.0014	5.626e-05	0	8.824e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0019	9.735e-05	8.25e-05	0.0010	0.0008	9.618e-05	0	6.534e-05	0	0.0019	9.413e-05	0	5.88e-05	0	0.0004	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.965	0.71173	D	0.000001	0.62929	D	0.056966	1	0.81001	D	2.915	0.84231	M	-0.08	0.63911	T	-8.81	0.97888	D	0.831	0.82761	-0.0500	0.81206	T	0.437	0.77689	T	10	0.12466192	0.23680	T	0.182496	0.85624	D	0.532	0.80307	.	.	0.877585680233	0.87639	0.9208311078194055	0.92059	0.932353545446	0.71882	0.633972883224	0.57708	T	0.514642	0.82909	D	-0.111595	0.34506	T	0.0654515	0.74605	D	0.316032948432716	0.25660	T	0.969003	0.88824	D	0.6292867	0.74260	0.6404869	0.78997	0.6292867	0.74261	0.6404869	0.78998	-9.57	0.71294	D	.	.	0.216	0.47687	B	.;.;.;.;.;.	.;.;.;.;.;.	5.601477	0.92460	32	0.99915917804623922	0.98379	0.98650	0.85139	D	AEFBI	0.897965	0.84073	D	0.81002566922412	0.86730	8.979855	0.764453821342444	0.87232	9.151972	0.999999998421842	0.74766	0.706548	0.73137	0	0.659464	0.62310	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	6.708000	0.74483	11.712000	0.94670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.341	0.74008	711	0.56613	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1724.43	35	chr11	75439957	.	G	A	1724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.352;DP=427;ExcessHet=0;FS=2.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.989;SOR=0.5	GT:AD:DP:GQ:PL	0/1:52,74:126:99:1736,0,1113	9	0	1	0
chr11	77015059	77015059	A	G	exonic	ACER3	.	nonsynonymous SNV	ACER3:NM_001300953:exon7:c.A430G:p.I144V,ACER3:NM_001300955:exon7:c.A256G:p.I86V,ACER3:NM_001300954:exon8:c.A256G:p.I86V,ACER3:NM_018367:exon8:c.A541G:p.I181V	.	0	225	1	0	0	1	0.00221729	.	.	.	1556822	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.088	0.00287054429649	0.0003	0.000798722	0.0007	9.766e-05	0.0003	0	0	0.0005	0	0.0026	0.0006145	95	154602	rs141925215	0.0005	0.0005	0.0003	0.0006	0.0029	0.0004	0.0004	0.0026	0.0025	9.033e-05	0.0002	0	0	0.0005	0.0010	0.0003	0.0003	0.0029	0.0004	0.0004	0.0004	0.0005	0.0031	0.0003	0.0003	0.0019	0.0015	7.218e-05	0	0.0001	0.0003	0	0.0003	0	0.0006	0.0005	0.0031	1.0	0.00964	T	1.0	0.02987	T	0.0	0.02946	B	0.001	0.04355	B	0.103812	0.19730	N	0.523481	0.999944	0.19238	N	0.205	0.09354	N	0.99	0.41750	T	0.02	0.06739	N	0.093	0.07398	-1.0396	0.17434	T	0.019	0.07893	T	10	0.008849442	0.00200	T	0.002871	0.06044	T	0.088	0.25558	.	.	0.577092586857	0.57378	0.4559827887407912	0.45516	0.553159282221	0.52090	0.343378573656	0.16943	T	0.219065	0.58845	T	-0.591315	0.00165	T	-0.627707	0.10589	T	0.00807206548415246	0.00096	T	0.80002	0.45710	T	0.050021112	0.08971	0.028096966	0.01015	0.04652187	0.07800	0.034221567	0.02450	-4.321	0.28470	T	0.13749409051251554	0.15132	0.065	0.02609	B	.;.;.;.	.;.;.;.	-1.009969	0.00757	0.024	0.43875939260457186	0.03334	0.01709	0.05426	N	AEFDBI	0.036760	0.04951	N	-1.52330645330793	0.01697	0.07428023	-1.55369602434238	0.01951	0.08904334	0.999999905443819	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.47	-10.9	0.00151	-0.223000	0.09182	-0.573000	0.08416	0.691000	0.84096	0.081000	0.22364	0.000000	0.08366	0.998000	0.85391	0.1683:0.1976:0.4398:0.1943	3.718	0.07973	562	0.71143	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	678.43	35	chr11	77015059	.	A	G	678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.436;DP=369;ExcessHet=0;FS=0.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=1.2;SOR=0.897	GT:AD:DP:GQ:PL	0/1:29,30:59:99:690,0,638	9	0	1	0
chr11	77269045	77269045	G	C	exonic	GDPD4	.	nonsynonymous SNV	GDPD4:NM_182833:exon9:c.C503G:p.P168R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.00303605557132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.126e-06	2.988e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	2.988e-05	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.58626	D	0.13	0.34716	T	0.999	0.77913	D	0.94	0.67560	D	0.001848	0.37840	N	0.297318	0.999956	0.19072	N	2.8	0.81625	M	2.43	0.15261	T	-4.3	0.76496	D	0.621	0.68429	-1.0661	0.10293	T	0.101	0.37316	T	10	0.86326265	0.85556	D	0.003036	0.06517	T	0.241	0.54641	0.705	0.84145	0.494299846589	0.49065	0.46834795206677476	0.46753	0.338127854564	0.35788	0.290455698967	0.08988	T	0.100051	0.40547	T	-0.124813	0.32338	T	-0.417061	0.31413	T	0.993709087371826	0.84614	D	0.721228	0.33447	T	0.19939154	0.41877	0.20281099	0.44328	0.19939154	0.41877	0.20281099	0.44327	-12.541	0.88129	D	.	.	0.406	0.60783	A	.;.	.;.	4.190581	0.63158	24.5	0.99785749950914637	0.87219	0.92830	0.56650	D	AEFBI	0.432247	0.49420	N	0.638824741340151	0.75647	6.343136	0.600149917452876	0.74950	6.225293	0.998455440995949	0.36996	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	4.476000	0.59950	6.974000	0.57101	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	15.499	0.75417	425	0.81160	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	711.43	34	chr11	77269045	.	G	C	711.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.448;DP=338;ExcessHet=0;FS=2.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.02;SOR=0.405	GT:AD:DP:GQ:PL	0/1:27,34:61:99:723,0,721	9	0	1	0
chr11	78658438	78658438	C	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon34:c.G7930A:p.G2644R	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.822	0.0828746798906	.	.	2.488e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs776302209	2.463e-05	2.463e-05	2.042e-05	2.888e-05	0.0003	1.803e-05	1.6e-05	9.791e-05	7.838e-05	0	0	0	0	0	0.0003	1.799e-05	0	0.0002	1.315e-05	1.314e-05	0	2.693e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.013	0.53900	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	-2.59	0.89822	D	-6.28	0.90688	D	0.916	0.91852	0.639	0.92407	D	0.814	0.93737	D	9	0.8130322	0.80568	D	0.082875	0.73994	D	0.822	0.94315	0.553	0.66995	0.641073573716	0.63811	0.8905565076083726	0.89025	1.05119572782	0.76154	0.749347925186	0.74349	T	0.678997	0.90553	D	0.276184	0.80986	D	0.395611	0.91968	D	0.895301103591919	0.54683	D	0.993776	0.97952	D	0.6687224	0.76364	0.57466304	0.75361	0.6687224	0.76365	0.57466304	0.75362	-4.102	0.25320	T	0.5734944572656684	0.64056	0.530	0.65911	A	.	.	4.810657	0.78262	26.9	0.99925701758606589	0.99042	0.98591	0.84452	D	AEFDBI	0.937011	0.93417	D	0.836948911477763	0.88354	9.546489	0.828851680932868	0.91722	11.03359	0.999999999996473	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	7.905000	0.86479	7.677000	0.65097	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.914	0.97044	880	0.29376	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3032.43	33	chr11	78658438	.	C	T	3032.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.268;DP=528;ExcessHet=0;FS=7.422;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.539;SOR=0.904	GT:AD:DP:GQ:PL	0/1:111,113:224:99:3044,0,2952	9	0	1	0
chr11	82732913	82732913	C	T	exonic	FAM181B	.	nonsynonymous SNV	FAM181B:NM_175885:exon1:c.G817A:p.G273S	.	408	1086	27	1	0	29	0.0131758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0031	0.00399361	0.0157	0.0041	0.0227	0	0.0078	0.0246	0.0143	0.0102	0.0034734	537	154602	rs142346160	0.0052	0.0052	0.0051	0.0054	0.0095	0.0051	0.0051	0.0075	0.0068	0.0006	0.0029	0.0144	2.773e-05	0.0071	0.0095	0.0052	0.0050	0.0075	0.0041	0.0041	0.0042	0.0041	0.0075	0.0038	0.0037	0.0055	0.0049	0.0007	0.0022	0.0027	0.0158	0	0.0074	0.0136	0.0055	0.0047	0.0075	0.151	0.24564	T	0.328	0.18675	T	0.093	0.25333	B	0.017	0.18140	B	0.045942	0.23486	N	0.414096	0.995739	0.23214	N	0.2	0.09183	N	1.63	0.28002	T	-0.21	0.10308	N	0.072	0.04547	-1.0179	0.24398	T	0.022	0.09284	T	9	0.003020376	0.00049	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.09454608370646181	0.09386	0.798905593079	0.66152	0.801437079906	0.82182	T	0.001729	0.01158	T	-0.617847	0.00113	T	-0.656405	0.08510	T	0.00480462648573201	0.00052	T	0.549145	0.18877	T	0.045748696	0.07541	0.074790746	0.16396	0.045748696	0.07541	0.074790746	0.16396	-4.421	0.29840	T	.	.	0.089	0.11989	B	.	.	1.381611	0.17928	13.45	0.96065594642874486	0.28605	0.61719	0.31567	D	AEFDBCI	0.085348	0.17302	N	-0.88983826427581	0.11083	0.5329738	-0.809113044060558	0.14275	0.7450502	0.79638522059897	0.24107	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.59	1.11	0.19640	0.312000	0.19147	0.461000	0.18618	-0.369000	0.05453	0.998000	0.41325	0.803000	0.26967	0.639000	0.32395	0.1388:0.6167:0.0:0.2445	6.319	0.20413	588	0.69043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005664	0.010870	0.006793	0.000000	0.000000	0.017857	0.006329	0.003846	0.05	1248.43	48	chr11	82732913	.	C	T	1248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=442;ExcessHet=0;FS=7.14;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.115;SOR=0.41	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1260,0,814	9	0	1	0
chr11	86954968	86954968	C	G	exonic	FZD4	.	nonsynonymous SNV	FZD4:NM_012193:exon1:c.G118C:p.E40Q	Exudative vitreoretinopathy 1, Autosomal dominant;Retinopathy of prematurity, Autosomal dominant	0	1503	19	0	0	19	0.00628099	.	.	YES	270114	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.404	0.106969376902	0.0005	0.000399361	0.0003	0.0001	0.0002	0	0	0.0003	0.0012	0.0007	0.0002717	42	154602	rs139401671	0.0003	0.0003	0.0002	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	2.988e-05	0.0001	0	0	0	0.0009	0.0003	0.0004	0.0013	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0010	0.0007	0.0002	0	0.0005	0	0	0	0	0.0003	0.0005	0.0019	0.136	0.26085	T	0.602	0.07894	T	0.389	0.34565	B	0.071	0.27960	B	0.004448	0.33730	N	0.319834	0.999413	0.46970	D	0.55	0.14455	N	-1.42	0.80645	T	-0.08	0.08187	N	0.739	0.73916	-0.5586	0.66457	T	0.307	0.67804	T	9	0.22068352	0.38771	T	0.106969	0.78282	D	0.404	0.71714	.	.	0.846473803454	0.84500	0.6531943856153503	0.65255	0.334379605044	0.35456	0.680506110191	0.64340	T	0.245522	0.61483	T	-0.143629	0.29313	T	-0.0479113	0.67165	D	0.0503176523388155	0.05555	T	0.781422	0.41649	T	0.2837642	0.51407	0.21293753	0.45784	0.2837642	0.51407	0.21293753	0.45783	-4.874	0.35442	T	0.24953795744807936	0.33781	0.263	0.49731	B	.	.	3.746337	0.53679	23.4	0.97296996623158227	0.33261	0.95335	0.64320	D	AEFDBHCIJ	0.766287	0.70251	D	-0.0279956169459167	0.40591	2.413133	0.100427949237667	0.44571	2.736283	0.999999998447107	0.74766	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.56214	0.19341	0	.	.	4.26	4.26	0.49832	3.577000	0.53631	4.701000	0.44410	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.818	0.85602	839	0.37672	Frizzled 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	0.001514	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.05	1353.43	35	chr11	86954968	.	C	G	1353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.86;DP=475;ExcessHet=0;FS=1.311;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.406;SOR=0.838	GT:AD:DP:GQ:PL	0/1:93,60:153:99:1365,0,2137	9	0	1	0
chr11	89968575	89968575	T	-	exonic	TRIM64	.	frameshift deletion	TRIM64:NM_001136486:exon2:c.72delT:p.P25Rfs*52	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357211780	0.0031	0.0045	0.0029	0.0033	0.0129	0.0030	0.0029	0.0115	0.0109	0.0044	0.0108	0.0020	0.0129	0.0048	0.0031	0.0019	0.0039	0.0059	0.0003	0.0022	0.0003	0.0002	0.0011	0.0001	7.043e-05	3.325e-05	1.366e-05	0	0	0.0006	0	0.0011	0.0008	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	59.51	.	chr11	89968574	.	AT	A	59.51	.	AC=2;AF=0.333;AN=6;DP=37;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=41.53;QD=29.75;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:67,6,0	2	1	0	7
chr11	90152360	90152360	C	A	exonic	NAALAD2	.	stopgain	NAALAD2:NM_001300930:exon6:c.C672A:p.Y224X,NAALAD2:NM_005467:exon6:c.C672A:p.Y224X	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.525	0.55453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	6.844711	0.95813	35	0.99647319710165794	0.77068	0.95655	0.65597	D	AEFI	0.183521	0.31084	N	0.674096401201829	0.77935	6.771578	0.490492017713402	0.67359	5.073378	0.0102916550855062	0.12000	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.22	3.3	0.36912	2.320000	0.43456	0.766000	0.21355	-0.198000	0.09030	1.000000	0.71638	0.992000	0.31684	0.992000	0.67800	0.0:0.8421:0.0:0.1579	10.973	0.46662	915	0.20917	PA domain;PA domain;PA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1347.43	35	chr11	90152360	.	C	A	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.587;DP=425;ExcessHet=0;FS=1.485;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=2.16;SOR=0.531	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1359,0,1355	9	0	1	0
chr11	93723151	93723151	C	T	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon21:c.C6058T:p.R2020W	.	.	.	.	.	.	.	.	.	.	.	2435127	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.0724419803599	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1043092895	2.929e-05	2.805e-05	3.524e-05	2.318e-05	9.495e-05	2.179e-05	1.961e-05	2.515e-05	1.918e-05	9.495e-05	0	3.971e-05	0	2.022e-05	0	3.058e-05	5.161e-05	0	5.915e-05	5.911e-05	5.138e-05	6.729e-05	0.0002	3.078e-05	2.21e-05	7.893e-05	5.589e-05	0.0002	0	0	0	0	0	0	2.939e-05	0	0	0.134	0.26300	T	0.042	0.50226	D	0.027	0.19556	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.55	0.13795	T	-0.72	0.37178	N	0.155	0.16028	-0.9728	0.36605	T	0.017	0.06807	T	9	0.036069185	0.01887	T	0.072442	0.71533	D	0.021	0.04004	0.224	0.14813	0.0138822411134	0.00435	0.06279667455958098	0.06218	0.0888589692762	0.10049	0.183066338301	0.00125	T	0.009432	0.08796	T	-0.406538	0.02097	T	-0.585072	0.14096	T	0.00891035589524258	0.00111	T	0.707329	0.31793	T	0.02327846	0.01054	0.0276104	0.00927	0.02327846	0.01053	0.0276104	0.00927	-5.11	0.38012	T	.	.	0.072	0.04080	B	.;.;.	.;.;.	0.656221	0.10244	6.983	0.57911475269565693	0.05874	0.01576	0.05139	N	AEFBI	0.052415	0.09352	N	-1.58158823117253	0.01359	0.05922199	-1.59618812886592	0.01678	0.07623238	0.761283006919283	0.23514	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.14	-1.51	0.08207	-0.093000	0.11077	0.616000	0.20081	-1.799000	0.00627	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1872:0.6055:0.0:0.2072	6.807	0.22966	831	0.39019	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	947.43	35	chr11	93723151	.	C	T	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.041;DP=436;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-1.156;SOR=0.589	GT:AD:DP:GQ:PL	0/1:76,43:119:99:959,0,1894	9	0	1	0
chr11	93727476	93727476	A	G	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon24:c.A7000G:p.I2334V	.	.	.	.	.	.	.	.	.	.	.	4120093	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.007	0.021622327775	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183327243	6.43e-06	6.156e-06	2.819e-06	1.014e-05	0.0004	3.03e-06	2.19e-06	6.157e-05	2.545e-05	0	0	0	0	0	0.0004	2.78e-06	3.44e-05	2.524e-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	0.911	0.02361	T	0.939	0.04168	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	3.01	0.09075	T	-0.03	0.07444	N	0.045	0.01740	-0.9883	0.33027	T	0.009	0.03011	T	9	0.0210253	0.00495	T	0.021622	0.44413	T	0.007	0.00512	0.256	0.19689	0.0138822411134	0.00435	0.020892862646352702	0.02042	0.0686214114366	0.07686	0.263979494572	0.05374	T	0.004567	0.03978	T	-0.443651	0.01231	T	-0.875051	0.00696	T	0.032034800917156	0.02311	T	0.491551	0.15120	T	0.020357877	0.00591	0.020144293	0.00121	0.020357877	0.00591	0.020144293	0.00121	-3.05	0.11434	T	.	.	0.077	0.06433	B	.;.;.	.;.;.	-0.403152	0.02202	0.219	0.5977702187924806	0.06304	0.00949	0.03655	N	AEFDBCI	0.027740	0.02320	N	-2.05311664678048	0.00162	0.006945934	-2.15170903806897	0.00144	0.006313331	0.999999999997751	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	4.93	-9.86	0.00393	-0.919000	0.04125	-2.033000	0.04315	-1.127000	0.01463	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.4428:0.2452:0.1472:0.1647	1.989	0.03234	836	0.38045	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1350.43	34	chr11	93727476	.	A	G	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.058;DP=412;ExcessHet=0;FS=1.807;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.976;SOR=0.487	GT:AD:DP:GQ:PL	0/1:35,49:84:99:1362,0,928	9	0	1	0
chr11	94821561	94821561	A	G	exonic	AMOTL1	.	nonsynonymous SNV	AMOTL1:NM_001301007:exon3:c.A1003G:p.M335V,AMOTL1:NM_130847:exon4:c.A1153G:p.M385V	.	420	1088	14	0	0	14	0.00639269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	0.0002	0.0071885	0.0055	0.0013	0.0003	0.0001	0	7.692e-05	0.0023	0.0389	0.0046442	718	154602	rs201040287	0.0022	0.0022	0.0012	0.0033	0.0357	0.0022	0.0022	0.0346	0.0342	0.0009	0.0001	0	2.519e-05	0	0.0023	1.799e-05	0.0023	0.0357	0.0014	0.0014	0.0008	0.0021	0.0344	0.0013	0.0012	0.0302	0.0285	0.0011	0	0.0001	0	0	0	0	2.941e-05	0.0009	0.0344	0.328	0.13219	T	0.505	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.397289	0.13173	N	0.723004	1	0.08975	N	-1.04	0.01097	N	2.68	0.12371	T	-0.35	0.12847	N	0.066	0.03841	-0.9661	0.37994	T	0.016	0.06329	T	10	0.0018446147	0.00025	T	.	.	.	0.109	0.30843	.	.	0.130388298395	0.12655	0.1954970617707738	0.19466	0.2003201085	0.22433	0.314447939396	0.12580	T	0.004737	0.04154	T	-0.71865	0.00028	T	-0.778607	0.02496	T	0.00236667993841907	0.00024	T	0.413759	0.10783	T	0.029494366	0.02453	0.043070298	0.05276	0.029494366	0.02453	0.043070298	0.05276	-3.133	0.11808	T	.	.	0.047	0.00075	B	.;.	.;.	1.006529	0.13851	10.41	0.31437279080009906	0.01772	0.03884	0.09254	N	AEFDBI	0.017526	0.00465	N	-0.897342234471071	0.10904	0.5234908	-0.761000554194568	0.15453	0.8127573	0.968955337649672	0.29091	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.96	1.78	0.23918	1.364000	0.33775	4.354000	0.43097	-0.137000	0.12594	0.669000	0.28339	1.000000	0.68203	0.890000	0.42831	0.0804:0.4407:0.4789:0.0	10.326	0.42976	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.022727	0.05	1280.43	38	chr11	94821561	.	A	G	1280.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.103;DP=417;ExcessHet=0;FS=1.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.15;SOR=0.502	GT:AD:DP:GQ:PL	0/1:38,58:96:99:1292,0,951	9	0	1	0
chr11	94998442	94998442	A	G	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.A1070G:p.E357G	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0037	0.00998403	0.0072	0.0097	0.0024	0.0002	0	0.0020	0.0188	0.0355	0.0063906	988	154602	rs76057256	0.0039	0.0039	0.0028	0.0050	0.0361	0.0038	0.0038	0.0351	0.0347	0.0100	0.0025	3.826e-05	0.0002	0.0001	0.0142	0.0016	0.0054	0.0361	0.0058	0.0058	0.0059	0.0056	0.0304	0.0054	0.0053	0.0264	0.0249	0.0111	0	0.0089	0.0003	0	9.411e-05	0.0102	0.0017	0.0066	0.0304	0.005	0.63226	D	0.075	0.42794	T	0.986	0.61523	D	0.717	0.54739	P	0.000006	0.62929	U	0.000000	1	0.08975	N	1.935	0.51832	L	1.46	0.32238	T	-5.57	0.86372	D	0.042	0.02559	-1.0566	0.12621	T	0.055	0.23224	T	10	0.004995674	0.00107	T	.	.	.	0.082	0.23913	.	.	0.372268306217	0.36840	0.7254151298995516	0.72485	0.691323969143	0.60588	0.365792542696	0.20226	T	0.341384	0.71029	T	-0.607426	0.00131	T	-0.618842	0.11275	T	0.0720550780844124	0.08936	T	0.242976	0.03512	T	0.41269726	0.61602	0.2966068	0.55694	0.41269726	0.61603	0.2966068	0.55693	-5.24	0.39346	T	.	.	0.061	0.01143	B	.;.;.	.;.;.	1.733267	0.22059	15.46	0.99500475937407351	0.67973	0.47774	0.28058	N	AEFDGBI	0.074009	0.14822	N	-0.296844974326509	0.29270	1.621704	-0.500331210384512	0.22145	1.201373	0.0135475313907863	0.12479	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.56	-1.5	0.08233	0.980000	0.29111	-1.299000	0.05779	0.658000	0.54486	0.756000	0.29198	0.000000	0.08366	0.140000	0.19946	0.5476:0.182:0.2704:0.0	4.004	0.09081	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017623	0.000000	0.013587	0.020468	0.050000	0.008621	0.009146	0.034091	0.05	2214.43	43	chr11	94998442	.	A	G	2214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.336;DP=507;ExcessHet=0;FS=3.384;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.423;SOR=0.972	GT:AD:DP:GQ:PL	0/1:96,87:183:99:2226,0,2432	9	0	1	0
chr11	96092091	96092093	TGT	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1938_1940del:p.Q665del	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0	0	0.0023	3.84e-05	1	26028	rs781413748	0.0001	0.0001	6.944e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	2.803e-05	0	2.803e-05	0	0	1.861e-06	3.469e-05	0.0024	8.632e-05	9.236e-05	6.494e-05	0.0001	0.0027	5.007e-05	4.001e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2931.39	36	chr11	96092090	.	CTGT	C	2931.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.119;DP=524;ExcessHet=0;FS=8.802;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.55;ReadPosRankSum=0.223;SOR=0.271	GT:AD:DP:GQ:PL	0/1:52,78:130:99:2943,0,1886	9	0	1	0
chr11	101962536	101962538	AAA	-	exonic	CEP126	.	nonframeshift deletion	CEP126:NM_020802:exon6:c.1501_1503del:p.K501del,CEP126:NM_001363543:exon7:c.904_906del:p.K302del	.	421	1085	16	0	0	16	0.0073193	.	.	.	2809793	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0050	0.00379393	0.0044	0.0019	0.0033	0	0.0008	0.0067	0.0011	0.0014	0.0011526	30	26028	rs529950842	0.0060	0.0060	0.0061	0.0059	0.0127	0.0059	0.0058	0.0103	0.0095	0.0011	0.0049	0.0005	0	0.0008	0.0127	0.0070	0.0067	0.0018	0.0054	0.0054	0.0056	0.0052	0.0084	0.0051	0.0050	0.0076	0.0073	0.0012	0.0537	0.0084	0.0006	0	0.0007	0.0272	0.0081	0.0100	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012085	0.020202	0.013587	0.000000	0.050000	0.008621	0.015244	0.003788	0.1	4401.1	33	chr11	101962535	.	TAAA	T	4401.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.85;DP=590;ExcessHet=0.2348;FS=1.516;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=0.594;SOR=0.787	GT:AD:DP:GQ:PL	0/1:81,61:142:99:2277,0,3152	8	0	2	0
chr11	102695089	102695089	C	A	exonic	MMP27	.	nonsynonymous SNV	MMP27:NM_022122:exon7:c.G911T:p.W304L	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	.	0.0061	0.00559105	0.0058	0.0019	0.0062	0	0.0036	0.0087	0.0022	0.0001	0.0060219	931	154602	rs35616217	0.0080	0.0081	0.0084	0.0077	0.0094	0.0079	0.0079	0.0092	0.0092	0.0019	0.0092	0.0091	2.521e-05	0.0035	0.0019	0.0094	0.0070	8.12e-05	0.0061	0.0062	0.0061	0.0062	0.0160	0.0058	0.0057	0.0144	0.0137	0.0015	0.0044	0.0160	0.0098	0	0.0041	0	0.0077	0.0109	0.0002	0.105	0.29823	T	0.063	0.45110	T	0.993	0.65571	D	0.894	0.63417	P	0.000018	0.62929	D	0.000000	0.999998	0.58761	D	2.335	0.66956	M	3.04	0.08810	T	-10.03	0.98848	D	0.853	0.84922	-1.1394	0.01380	T	0.043	0.18285	T	10	0.016364515	0.00345	T	.	.	.	0.309	0.63055	.	.	0.612470515539	0.60935	0.9075955049470651	0.90732	0.306118392961	0.32916	0.690705060959	0.65808	T	0.116956	0.43669	T	-0.181771	0.23472	T	-0.0228461	0.68841	D	0.0464622263873038	0.04868	T	0.768923	0.39853	T	0.618784	0.73698	0.57377476	0.75312	0.618784	0.73699	0.57377476	0.75312	-10.837	0.78756	D	.	.	0.467	0.63042	A	.	.	3.637883	0.51562	23.1	0.98572537323366582	0.43128	0.88897	0.49051	D	AEFBI	0.294917	0.40516	N	0.724478560553151	0.81237	7.475328	0.673077348772383	0.80341	7.277121	0.0046333904501672	0.10650	0.487112	0.14033	0	0.55458	0.17659	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	4.264000	0.58657	5.956000	0.51737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.1444:0.8556:0.0:0.0	14.692	0.68702	712	0.56465	Hemopexin-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	0.006042	0.020202	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	771.43	34	chr11	102695089	.	C	A	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.319;DP=386;ExcessHet=0;FS=3.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.851;SOR=1.214	GT:AD:DP:GQ:PL	0/1:38,31:69:99:783,0,995	9	0	1	0
chr11	103156671	103156671	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon26:c.A4028G:p.N1343S,DYNC2H1:NM_001377:exon26:c.A4028G:p.N1343S	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0345652728021	.	.	.	.	.	.	.	.	.	.	.	.	.	rs974086834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.041	0.50514	D	0.938	0.61118	P	0.852	0.63213	P	0.109041	0.19502	N	0.401019	1	0.81001	D	1.585	0.39878	L	0.16	0.60610	T	-3.4	0.67014	D	0.817	0.81261	-0.6811	0.61321	T	0.287	0.65851	T	10	0.61851215	0.67843	D	0.034565	0.55763	D	0.266	0.57999	0.434	0.48500	0.751660190969	0.74941	0.5270089370984039	0.52624	0.25954781884	0.28511	0.730854272842	0.71631	T	0.571176	0.85803	D	-0.0700114	0.41325	T	-0.338343	0.40531	T	0.952138721942902	0.63721	D	0.944206	0.78893	D	0.3602871	0.57858	0.5019631	0.71209	0.3602871	0.57858	0.5019631	0.71210	-10.283	0.75589	D	0.5285119171156634	0.59972	0.083	0.10691	B	.;.;.;.	.;.;.;.	4.108833	0.61322	24.3	0.99890615051367615	0.96513	0.98952	0.89087	D	AEBI	0.900850	0.84686	D	0.60675142977447	0.73599	5.992854	0.629098958789322	0.77061	6.607719	0.999999232499678	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.27	5.27	0.73797	9.062000	0.93350	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.191	0.72727	512	0.75040	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	37.05	34	chr11	103156671	.	A	G	37.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.381;DP=423;ExcessHet=0;FS=42.466;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=2.46;SOR=5.419	GT:AD:DP:GQ:PL	0/1:68,14:82:48:48,0,1377	8	0	1	1
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	4213.63	178	chr11	106010659	.	C	T	4213.63	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.629;DP=1435;ExcessHet=7.0302;FS=291.532;InbreedingCoeff=-0.6439;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=3.04;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,25:148:99:.:.:305,0,3291:.	3	0	5	2
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4930.37	202	chr11	106010660	.	C	G	4930.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.122;DP=1478;ExcessHet=7.0302;FS=301.82;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=4.41;ReadPosRankSum=3.03;SOR=11.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,38:148:99:.:.:429,0,3272:.	0	0	7	3
chr11	113700128	113700128	T	C	exonic	TMPRSS5	.	nonsynonymous SNV	TMPRSS5:NM_001288752:exon2:c.A44G:p.Y15C,TMPRSS5:NM_030770:exon2:c.A44G:p.Y15C	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.032180533826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164762152	4.186e-06	6.156e-06	4.144e-06	4.228e-06	0.0002	1.51e-06	9.9e-07	1.34e-06	9.7e-07	0	0	0	0	0	0.0002	4.559e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.91255	T	0.187	0.30534	T	0.001	0.09854	B	0.001	0.06944	B	0.337008	0.14023	N	0.610009	1	0.08975	N	1.04	0.26193	L	-2.35	0.88066	D	-1.48	0.36189	N	0.172	0.23125	-0.6795	0.61396	T	0.402	0.75281	T	10	0.043830454	0.03274	T	0.032181	0.54073	D	0.105	0.29889	0.213	0.13210	0.588891999268	0.58564	0.3862944826102544	0.38544	0.0877038788788	0.09897	0.410441339016	0.26517	T	0.017697	0.14531	T	-0.0467524	0.44938	T	-0.304933	0.44201	T	0.0487487908392749	0.05279	T	0.692831	0.30243	T	0.06630304	0.14253	0.06981155	0.14754	0.06630304	0.14253	0.06981155	0.14754	-2.647	0.06869	T	.	.	0.092	0.23535	B	.;.;.	.;.;.	0.708136	0.10771	7.456	0.98091933177987001	0.38197	0.01693	0.05392	N	AEFDBI	0.046838	0.07822	N	-1.02331946746848	0.08121	0.3797025	-1.03088599582003	0.09110	0.4514232	0.725489818353318	0.22982	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.85	0.174	0.14325	0.109000	0.15252	-0.551000	0.08528	0.607000	0.46521	0.023000	0.19925	0.000000	0.08366	0.205000	0.22041	0.0:0.2478:0.0:0.7522	6.337	0.20505	542	0.72843	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001010	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	362.43	30	chr11	113700128	.	T	C	362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=1.6;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,16:51:99:0|1:113700128_T_C:374,0,1394:113700128	9	0	1	0
chr11	121152938	121152938	G	A	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon13:c.G4163A:p.R1388H,TBCEL-TECTA:NM_001378761:exon19:c.G5120A:p.R1707H	.	0	1512	10	0	0	10	0.00329598	.	.	YES	859843	Autosomal_recessive_nonsyndromic_hearing_loss_21|Autosomal_dominant_nonsyndromic_hearing_loss_12|not_provided	MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.483	0.071028903809	0.0002	.	0.0004	0	0.0003	0	0	0.0003	0	0.0014	0.0002911	45	154602	rs150016625	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0002	0.0036	0.0031	2.989e-05	0.0003	7.655e-05	0	0	0.0050	0.0001	0.0003	0.0015	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0.0001	0	0	0	0	0.0002	0.0009	0.0019	0.03	0.45393	D	0.018	0.59732	D	0.998	0.73220	D	0.862	0.61339	P	0.000070	0.52346	D	0.137802	0.994366	0.42255	D	0.895	0.22405	L	-2.72	0.90622	D	-0.85	0.23156	N	0.573	0.59563	0.542	0.91124	D	0.738	0.91055	D	10	0.19787249	0.35734	T	0.071029	0.71161	D	0.483	0.77271	.	.	0.921470471804	0.92067	0.5787082235357279	0.57799	1.09109443425	0.77432	0.469296038151	0.34583	T	0.243802	0.61280	T	-0.223945	0.17457	T	-0.113472	0.62334	T	0.118888445198536	0.14322	T	0.956904	0.83579	D	0.11278217	0.26641	0.096249856	0.22863	0.12854354	0.30048	0.081098385	0.18402	-5.141	0.38336	T	0.4168107422910662	0.50620	0.174	0.43032	B	.;.;.	.;.;.	5.315137	0.89222	29.9	0.99950758448353183	0.99944	0.95063	0.63303	D	AEFDBI	0.692793	0.65233	D	0.562118947448964	0.70825	5.558469	0.59295679253822	0.74433	6.136345	0.994822726774851	0.33818	0.487112	0.14033	0	0.563428	0.19063	0	8.03E-4	0.00125	3	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	4.568000	0.60573	11.792000	0.96402	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	19.025	0.92908	764	0.49969	Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.1	3696.12	38	chr11	121152938	.	G	A	3696.12	.	AC=2;AF=0.1;AN=20;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.32;SOR=0.727	GT:AD:DP:GQ:PL	1/1:0,118:118:99:3719,354,0	9	1	0	0
chr11	133920070	133920070	C	T	exonic	IGSF9B	.	nonsynonymous SNV	IGSF9B:NM_001277285:exon18:c.G3655A:p.A1219T	.	402	1117	3	0	0	3	0.00134108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0247089295072	0.0013	.	0.0011	0.0002	0.0010	0	0	0.0017	0	0.0004	0.0010155	157	154602	rs201329176	0.0017	0.0017	0.0017	0.0018	0.0067	0.0017	0.0017	0.0050	0.0044	0.0005	0.0010	0.0034	0	0.0001	0.0067	0.0020	0.0014	0.0003	0.0013	0.0013	0.0015	0.0011	0.0021	0.0011	0.0011	0.0018	0.0017	0.0004	0	0.0012	0.0049	0	0	0	0.0021	0.0014	0	0.487	0.08067	T	0.746	0.04877	T	0.002	0.09854	B	0.001	0.04355	B	0.012083	0.29294	N	0.159398	1	0.08975	N	-0.205	0.04094	N	0.19	0.60236	T	-0.2	0.10136	N	0.136	0.22870	-1.0051	0.28427	T	0.077	0.30737	T	10	0.0041303933	0.00081	T	0.024709	0.47696	T	0.030	0.07022	.	.	0.0675242888579	0.06100	0.1307254831588098	0.12997	0.0987769954681	0.11157	0.61501789093	0.55024	T	0.001593	0.01030	T	-0.517114	0.00457	T	-0.528805	0.19406	T	0.00768898730280037	0.00090	T	0.789321	0.42944	T	0.04447727	0.07116	0.054332856	0.09326	0.04447727	0.07116	0.054332856	0.09326	-4.211	0.29037	T	.	.	0.071	0.03887	B	.;.	.;.	2.201831	0.28079	17.68	0.92839785112096418	0.22374	0.14975	0.18681	N	AEFDBI	0.091055	0.18447	N	-1.24880345925987	0.04315	0.1945291	-1.1638522992481	0.06523	0.3142353	0.750232362811389	0.23348	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	5.11	3.19	0.35720	0.437000	0.21261	3.966000	0.40787	0.599000	0.40250	0.025000	0.20085	0.999000	0.35428	0.360000	0.25886	0.0:0.535:0.1722:0.2927	4.223	0.10021	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.008152	0.017647	0.000000	0.008621	0.003049	0.003788	0.05	1208.43	37	chr11	133920070	.	C	T	1208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.017;DP=402;ExcessHet=0;FS=3.14;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.252;SOR=0.384	GT:AD:DP:GQ:PL	0/1:30,48:78:99:1220,0,687	9	0	1	0
chr12	67168	67168	G	C	exonic	IQSEC3	.	nonsynonymous SNV	IQSEC3:NM_001170738:exon1:c.G286C:p.D96H	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	.	0.0026	0.0111	0.0606	0	.	0.0032	0.0122	0.0012	0.0009221	24	26028	rs782295926	0.0039	0.0039	0.0039	0.0038	0.0061	0.0038	0.0037	0.0043	0.0042	0.0008	0.0033	0.0024	0	0.0041	0.0061	0.0044	0.0035	0.0008	0.0033	0.0034	0.0032	0.0035	0.0062	0.0031	0.0030	0.0052	0.0048	0.0007	0.0176	0.0062	0.0035	0	0.0030	0.0136	0.0045	0.0052	0.0012	0.148	0.24857	T	0.109	0.37449	T	.	.	.	.	.	.	0.980809	0.08095	U	0.985349	0.955065	0.26347	N	0.695	0.17993	N	1.12	0.38718	T	-0.6	0.17834	N	0.05	0.02179	-0.9599	0.39199	T	0.086	0.33354	T	8	0.0042662323	0.00085	T	.	.	.	0.072	0.21020	.	.	0.522070630433	0.51852	0.28569742013164945	0.28482	3.21115196292	0.99499	0.784718155861	0.79642	T	0.010654	0.09602	T	-0.547702	0.00301	T	-0.559657	0.16408	T	0.00620031556581083	0.00069	T	0.542746	0.18485	T	0.03209524	0.03170	0.054420795	0.09358	0.03209524	0.03170	0.054420795	0.09357	-2.586	0.06397	T	.	.	0.133	0.28664	B	.	.	2.388771	0.30670	18.51	0.98377637462506395	0.40822	0.00939	0.03629	N	AEFDGBHCI	0.083566	0.16931	N	-0.21371504949177	0.32571	1.838261	-0.261146272928498	0.29390	1.646179	0.0107335853423343	0.12073	0.615755	0.39536	0	0.573888	0.26702	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	3.92	0.307	0.15057	-0.009000	0.12703	0.903000	0.22566	0.575000	0.29119	0.933000	0.32380	0.997000	0.33255	0.062000	0.16114	0.4107:0.0:0.37:0.2193	2.539	0.04434	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	468.43	33	chr12	67168	.	G	C	468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.57;DP=443;ExcessHet=0;FS=9.081;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.01;MQRankSum=1.06;QD=5.93;ReadPosRankSum=0.91;SOR=0.706	GT:AD:DP:GQ:PL	0/1:58,21:79:99:480,0,1635	9	0	1	0
chr12	3656379	3656379	G	C	exonic	CRACR2A	.	nonsynonymous SNV	CRACR2A:NM_001144958:exon9:c.C790G:p.Q264E,CRACR2A:NM_032680:exon9:c.C790G:p.Q264E	.	.	.	.	.	.	.	.	.	.	.	3661110	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00626058673992	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs759114289	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0002	1.456e-05	1.264e-05	1.663e-05	1.425e-05	0	0	0	0	0	0.0002	2.428e-05	1.656e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-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	0.471	0.15930	T	0.014	0.62352	D	0.287	0.32229	B	0.085	0.29395	B	0.216346	0.16243	N	0.650048	0.978108	0.25270	N	2.17	0.60663	M	2.03	0.20959	T	-0.75	0.25332	N	0.271	0.30687	-1.0554	0.12934	T	0.035	0.15117	T	10	0.1076518	0.20006	T	0.006261	0.16435	T	0.036	0.09122	0.186	0.09517	0.48512917806	0.48145	0.0645073950868199	0.06389	0.109411626033	0.12343	0.264480859041	0.05436	T	0.012387	0.10895	T	-0.260365	0.12858	T	-0.514918	0.20812	T	0.310646742582321	0.25441	T	0.724428	0.34443	T	0.10032192	0.23686	0.11004221	0.26529	0.10032192	0.23685	0.11004221	0.26529	-10.168	0.74911	D	.	.	0.083	0.09045	B	.;.	.;.	2.860251	0.37787	20.6	0.64193899844450319	0.07427	0.97301	0.73892	D	AEFDBI	0.613127	0.60094	D	-0.00993565646099931	0.41403	2.475977	0.143907255306722	0.46820	2.921823	0.999895055294405	0.45129	0.706298	0.61202	0	0.653731	0.59785	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.87	4.87	0.62877	4.292000	0.58826	5.007000	0.46640	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.8142:0.1858	11.036	0.47018	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	599.43	36	chr12	3656379	.	G	C	599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.934;DP=377;ExcessHet=0;FS=5.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=0.656;SOR=0.565	GT:AD:DP:GQ:PL	0/1:41,26:67:99:611,0,1216	9	0	1	0
chr12	7921631	7921631	G	A	exonic	SLC2A3	.	nonsynonymous SNV	SLC2A3:NM_006931:exon10:c.C1273T:p.H425Y	.	434	1077	11	0	0	11	0.00508083	0	0.036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	.	.	0.0024	0.0001	0.0004	0.0156	0.0002	0.0003	0.0012	0.0079	3.84e-05	1	26028	rs770553171	0.0002	0.0022	0.0001	0.0002	0.0012	0.0001	0.0001	0.0009	0.0008	3.037e-05	0.0001	0.0002	0.0012	5.627e-05	0.0005	7.071e-05	0.0002	0.0008	9.222e-05	0.0002	6.434e-05	0.0001	0.0002	5.541e-05	4.375e-05	0.0001	8.464e-05	0.0002	0	0.0002	0	0	0	0	1.473e-05	0.0005	0	0.163	0.23450	T	0.117	0.36365	T	0.0	0.02946	B	0.0	0.01387	B	0.004983	0.01056	N	4.198110	0.855	0.28442	N	0.205	0.09354	N	-0.81	0.73949	T	-0.73	0.20576	N	0.123	0.11483	-0.9373	0.43041	T	0.190	0.54183	T	10	0.0065737963	0.00149	T	0.007059	0.18704	T	0.135	0.36572	.	.	0.110392049598	0.10638	0.31962776177751884	0.31875	0.910420114805	0.71036	0.33634775877	0.15890	T	0.233425	0.60022	T	-0.249009	0.14221	T	-0.595461	0.13196	T	0.0172055329646885	0.00463	T	0.010099	0.00053	T	0.09039283	0.21151	0.0590024	0.10998	0.09039283	0.21151	0.0590024	0.10998	-5.003	0.36872	T	.	.	0.093	0.14247	B	.	.	-0.979497	0.00800	0.026	0.62166729519619346	0.06893	0.10348	0.15879	N	AEFDGBHCI	0.044552	0.07182	N	-2.06471239057613	0.00153	0.006548655	-2.18572965001649	0.00120	0.005293652	0.999915294599531	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.0	-8.01	0.00991	-0.829000	0.04522	-2.321000	0.03903	-2.173000	0.00365	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3037:0.2313:0.0846:0.3804	1.304	0.01959	946	0.12043	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004237	0.008929	0.001366	0.013043	0.000000	0.000000	0.000000	0.008264	0.05	37.43	40	chr12	7921631	.	G	A	37.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.858;DP=369;ExcessHet=0;FS=2.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.32;MQRankSum=-5.808;QD=0.94;ReadPosRankSum=-1.005;SOR=0.269	GT:AD:DP:GQ:PL	0/1:34,6:40:49:49,0,1066	9	0	1	0
chr12	8933192	8933192	C	G	exonic	PHC1	.	nonsynonymous SNV	PHC1:NM_004426:exon8:c.C1735G:p.P579A	.	449	1051	22	0	0	22	0.0103578	.	.	.	2810169	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	.	.	0.00359425	0.0134	0	0.0046	0	0	0.0178	0	0.0299	0.0025226	390	154602	rs201210657	0.0077	0.0073	0.0078	0.0075	0.0084	0.0075	0.0075	0.0082	0.0082	0.0013	0.0034	0.0011	0	0.0108	0.0030	0.0084	0.0066	0.0056	0.0063	0.0065	0.0061	0.0066	0.0096	0.0060	0.0059	0.0090	0.0087	0.0011	0.0079	0.0070	0.0009	0	0.0114	0.0034	0.0096	0.0031	0.0030	0.018	0.50676	D	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.028378	0.25612	N	0.372588	0.96657	0.81001	D	0.805	0.20218	L	1.56	0.29602	T	-0.92	0.25332	N	0.194	0.21710	-1.1035	0.03693	T	0.031	0.13242	T	10	0.0052458644	0.00114	T	.	.	.	0.058	0.16647	.	.	0.21174354426	0.20776	0.28156049121059595	0.28069	0.727970359096	0.62593	0.437310278416	0.30210	T	0.156719	0.49901	T	-0.508406	0.00512	T	-0.495675	0.22798	T	0.00270492312657262	0.00028	T	0.712729	0.33234	T	0.06320114	0.13281	0.04482734	0.05896	0.06268708	0.13120	0.04482734	0.05896	-3.655	0.18656	T	.	.	0.051	0.00259	B	.;.;.	.;.;.	2.134720	0.27180	17.37	0.70983424013796725	0.09476	0.82891	0.42059	D	AEFDGBI	0.160804	0.28679	N	-0.226141754932948	0.32064	1.80436	-0.0334254884364705	0.38214	2.248346	0.00473759868014255	0.10692	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.27	4.32	0.50899	0.712000	0.25450	1.535000	0.27187	0.599000	0.40250	0.968000	0.34134	0.999000	0.35428	0.997000	0.79791	0.1454:0.7763:0.0:0.0783	10.488	0.43919	601	0.67921	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002665	0.005208	0.001453	0.006135	0.000000	0.000000	0.000000	0.004098	0.05	904.43	33	chr12	8933192	.	C	G	904.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.7;DP=344;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.78;MQRankSum=1.16;QD=20.1;ReadPosRankSum=0.491;SOR=0.929	GT:AD:DP:GQ:PL	0/1:20,25:45:99:916,0,676	9	0	1	0
chr12	9109966	9109966	A	G	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon5:c.T124C:p.F42L,A2M:NM_000014:exon6:c.T574C:p.F192L,A2M:NM_001347424:exon6:c.T274C:p.F92L,A2M:NM_001347423:exon7:c.T574C:p.F192L	Alpha-2-macroglobulin deficiency, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0265216694037	.	.	1.656e-05	0	8.637e-05	0	0	0	0	6.059e-05	1.29e-05	2	154602	rs772773413	1.232e-05	1.231e-05	9.53e-06	1.513e-05	0.0002	7.7e-06	6.35e-06	8.001e-05	6.239e-05	0	2.237e-05	0	0	0	0.0002	2.698e-06	1.656e-05	0.0001	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.029	0.45756	D	0.185	0.28958	T	0.983	0.60381	D	0.869	0.61749	P	0.000692	0.42383	N	0.209202	1	0.08975	N	2.25	0.63811	M	-0.98	0.75789	T	-5.28	0.84246	D	0.524	0.55366	-0.6600	0.62276	T	0.373	0.73175	T	10	0.88072133	0.87382	D	0.026522	0.49420	D	0.320	0.64215	0.865	0.96050	0.859673266445	0.85831	0.4899431374707562	0.48914	0.392344087065	0.40412	0.547096848488	0.45448	T	0.425505	0.77560	T	-0.202318	0.20470	T	-0.291724	0.45593	T	0.938398003578186	0.60898	D	0.810819	0.46223	T	0.5950592	0.72424	0.43381357	0.66922	0.5950592	0.72425	0.43381357	0.66922	-6.521	0.50449	T	.	.	0.534	0.66081	A	.	.	3.024479	0.40491	21.2	0.99655164546504127	0.77568	0.60603	0.31242	D	AEFBCI	0.607364	0.59735	D	0.0361261795571216	0.43506	2.642118	-0.0770043880374042	0.36342	2.113812	0.930359317198855	0.27005	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.41	3.01	0.33872	3.136000	0.50249	6.109000	0.53642	0.751000	0.87719	0.988000	0.36536	1.000000	0.68203	0.848000	0.40082	0.7377:0.1731:0.0892:0.0	5.577	0.16511	552	0.72024	Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1160.43	35	chr12	9109966	.	A	G	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.58;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.566;SOR=0.646	GT:AD:DP:GQ:PL	0/1:56,47:103:99:1172,0,1482	9	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.1	833.14	91	chr12	10930916	.	C	T	833.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.99;DP=637;ExcessHet=0.2348;FS=15.315;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=40.12;MQRankSum=2.34;QD=4.68;ReadPosRankSum=0.44;SOR=1.999	GT:AD:DP:GQ:PL	0/1:61,16:77:99:378,0,1918	8	0	2	0
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPHKETSPE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.87e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1688.69	48	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	1688.69	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.074;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=55.01;MQRankSum=-3.06;QD=25.59;ReadPosRankSum=-7.039;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,50:66:99:0|1:11353474_C_CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT:1699,0,652:11353474	7	0	1	2
chr12	21875696	21875696	C	T	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_001377274:exon15:c.G1186A:p.G396S,ABCC9:NM_005691:exon17:c.G2050A:p.G684S,ABCC9:NM_020297:exon17:c.G2050A:p.G684S,ABCC9:NM_001377273:exon18:c.G2050A:p.G684S	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	1	1510	11	0	0	11	0.00362917	.	.	.	54564	not_specified|Cardiovascular_phenotype|Cardiomyopathy|ABCC9-related_disorder|Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_cardiomyopathy_1O|Hypertrichotic_osteochondrodysplasia_Cantu_type|not_provided	MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.233	0.12609051908	0.0008	0.000599042	0.0010	0.0003	8.717e-05	0	0	0.0008	0.0011	0.0035	0.0009508	147	154602	rs148174226	0.0008	0.0008	0.0007	0.0009	0.0035	0.0007	0.0007	0.0031	0.0030	5.979e-05	0.0002	0	2.522e-05	1.874e-05	0.0016	0.0007	0.0006	0.0035	0.0005	0.0005	0.0005	0.0004	0.0023	0.0004	0.0003	0.0013	0.0010	0.0002	0	0.0003	0	0	0	0	0.0007	0.0005	0.0023	0.238	0.17940	T	0.342	0.21745	T	0.007	0.19556	B	0.005	0.17743	B	0.000001	0.84330	D	0.097178	0.970613	0.38811	D	-0.2	0.04182	N	-2.65	0.90210	D	-1.46	0.35792	N	0.362	0.41162	-0.2607	0.76069	T	0.498	0.80985	T	10	0.011582732	0.00253	T	0.126091	0.80770	D	0.233	0.53499	.	.	0.770959730969	0.76886	0.4759855468035735	0.47517	0.678672366904	0.59898	0.631337404251	0.57335	T	0.29648	0.66910	T	-0.275262	0.11176	T	-0.170277	0.57417	T	0.0227941112266128	0.00999	T	0.884312	0.63771	D	0.24881262	0.47871	0.24836697	0.50386	0.24481207	0.47433	0.22542757	0.47486	-5.141	0.38377	T	0.4949840100153108	0.57118	0.094	0.14477	B	.;.;.	.;.;.	3.984620	0.58603	24.0	0.99399302547461599	0.62702	0.79662	0.39518	D	AEFBI	0.514915	0.54209	D	-0.249145023032462	0.31138	1.742994	-0.0368784568834149	0.38063	2.23727	0.00159494098697134	0.08681	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.55	4.66	0.57857	5.464000	0.66451	5.796000	0.49904	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.9256:0.0:0.0744	13.915	0.63400	675	0.60470	.;ABC transporter-like;ABC transporter-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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.1	2508.12	34	chr12	21875696	.	C	T	2508.12	.	AC=2;AF=0.1;AN=20;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.83;SOR=0.917	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2531,261,0	9	1	0	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	220.13	131	chr12	31091731	.	C	T	220.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.891;DP=893;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1096;MLEAC=2;MLEAF=0.1;MQ=47.69;MQRankSum=-6.345;QD=0.69;ReadPosRankSum=-2.244;SOR=0.647	GT:AD:DP:GQ:PL	0/1:164,22:186:16:16,0,4503	8	0	2	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1393.03	83	chr12	39764776	.	G	C	1393.03	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.279;DP=513;ExcessHet=10.3881;FS=336.368;InbreedingCoeff=-0.6794;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=1.11;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,15:55:99:.:.:253,0,979:.	3	0	7	0
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	897.15	66	chr12	39764778	.	G	A	897.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.361;DP=458;ExcessHet=2.8389;FS=279.776;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.99;ReadPosRankSum=0.768;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,20:55:99:.:.:304,0,964:.	5	0	5	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	31329.3	901	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	31329.3	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.48;DP=10334;ExcessHet=15.1594;FS=3.513;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=56.49;MQRankSum=-24.25;QD=5.99;ReadPosRankSum=4.67;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:895,77:972:99:0|1:40487424_T_TCAGGTGTAGTGACAGGGACAACTGGCCC:539,0,37215:40487424	2	0	8	0
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1779.1	901	chr12	40487442	.	G	GGCT	1779.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.419;DP=9879;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.6;MQRankSum=-26.6;QD=0.96;ReadPosRankSum=1.37;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:853,76:929:99:0|1:40487424_T_TCAGGTGTAGTGACAGGGACAACTGGCCC:574,0,35098:40487424	8	0	2	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	30359.1	877	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	30359.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.166;DP=10267;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=6;MLEAF=0.3;MQ=56.51;MQRankSum=-21.55;QD=5.08;ReadPosRankSum=-1.513;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:847,76:923:99:0|1:40487424_T_TCAGGTGTAGTGACAGGGACAACTGGCCC:589,0,34850:40487424	4	0	6	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	285.81	41	chr12	51706661	.	G	C	285.81	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.243;DP=517;ExcessHet=1.5895;FS=243.364;InbreedingCoeff=-0.4255;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.824;SOR=9.15	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,18:71:66:.:.:66,0,924:.	2	0	4	4
chr12	52645089	52645157	CCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTT	-	exonic	KRT2	.	nonframeshift deletion	KRT2:NM_000423:exon9:c.1782_1850del:p.K595_G617del	Ichthyosis bullosa of Siemens, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0013	.	.	.	.	5.199e-05	5.267e-05	2.178e-05	8.25e-05	0.0008	4.258e-05	3.888e-05	0.0007	0.0006	0	2.237e-05	0	0	0	0	1.799e-06	4.967e-05	0.0008	1.315e-05	1.313e-05	0	2.693e-05	0.0004	2.19e-06	8.2e-07	7.324e-05	3.041e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1967.39	36	chr12	52645088	.	CCCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTT	C	1967.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.3;DP=584;ExcessHet=0;FS=5.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.82;MQRankSum=-2.427;QD=8.44;ReadPosRankSum=-1.189;SOR=1.109	GT:AD:DP:GQ:PL	0/1:174,59:233:99:1979,0,7064	9	0	1	0
chr12	52833950	52833950	G	A	exonic	KRT79	.	nonsynonymous SNV	KRT79:NM_175834:exon1:c.C311T:p.T104M	.	.	.	.	.	.	.	.	.	.	.	3269484	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0290554264228	0.0003	0.000199681	7.462e-05	0.0005	0	0	0	0	0.0034	6.113e-05	6.47e-05	10	154602	rs143471796	2.532e-05	2.531e-05	2.043e-05	3.027e-05	0.0002	1.868e-05	1.631e-05	9.751e-05	6.951e-05	0.0002	6.714e-05	0	2.52e-05	0	0	9.896e-06	0.0002	3.479e-05	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	9.711e-05	0.0003	0.0002	0.0004	0	0.0005	0	0	0	0	0	0.0005	0	0.159	0.23813	T	0.086	0.40909	T	0.004	0.12183	B	0.002	0.06944	B	0.031068	0.01730	N	2.368080	1	0.08975	N	0.28	0.10031	N	-0.97	0.75670	T	-1.17	0.29933	N	0.08	0.05542	-0.9945	0.31432	T	0.148	0.47469	T	10	0.013486743	0.00286	T	0.029055	0.51634	D	0.107	0.30369	.	.	0.139678290688	0.13603	0.7298150304947164	0.72926	0.111390099725	0.12571	0.289260238409	0.08814	T	0.004359	0.03768	T	-0.445715	0.01197	T	-0.548014	0.17515	T	0.0202784519642591	0.00728	T	0.122588	0.00952	T	0.02527455	0.01447	0.034065593	0.02407	0.02527455	0.01446	0.034065593	0.02407	-3.394	0.14976	T	.	.	0.086	0.10642	B	.	.	0.339762	0.07133	3.713	0.57337110938509928	0.05747	0.04224	0.09741	N	AEFDBI	0.087967	0.17834	N	-1.45080203735939	0.02210	0.09734253	-1.48082993525811	0.02501	0.1151624	0.0121781413924201	0.12289	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.28	-3.25	0.04765	-0.649000	0.05483	.	.	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.5168:0.1737:0.2076:0.1018	3.466	0.07118	569	0.70546	Keratin type II head	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1193.43	33	chr12	52833950	.	G	A	1193.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.386;SOR=0.693	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1205,0,1114	9	0	1	0
chr12	53061154	53061154	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.G3278A:p.G1093E,TNS2:NM_170754:exon20:c.G3248A:p.G1083E,TNS2:NM_198316:exon20:c.G2876A:p.G959E	.	416	1100	6	0	0	6	0.00271985	.	.	.	796799	TNS2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.470	0.0795756466526	0.0005	0.000399361	0.0007	0.0001	8.673e-05	0	0	0.0011	0.0012	0.0006	0.0006533	101	154602	rs139881378	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0004	0.0007	0.0005	8.987e-05	0.0003	0.0085	0	1.893e-05	0.0014	0.0003	0.0013	0.0005	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	2.405e-05	0	0.0005	0.0092	0	0	0	0.0004	0.0005	0.0014	0.023	0.50132	D	0.076	0.49120	T	0.188	0.73220	B	0.135	0.63802	B	0.046646	0.23419	N	0.442226	0.790419	0.29232	N	.	.	.	-3.44	0.94469	D	-2.67	0.58407	D	0.663	0.67218	0.272	0.87102	D	0.833	0.94419	D	10	0.009141624	0.00207	T	0.079576	0.73267	D	0.470	0.76421	.	.	0.403609169532	0.39974	0.3024018777301248	0.30153	0.924845224075	0.71602	0.609047055244	0.54180	T	0.63581	0.88770	D	-0.0701058	0.41310	T	0.0279639	0.72146	D	0.0306202726066503	0.02086	T	0.910909	0.70392	D	0.2625106	0.49313	0.28004578	0.53977	0.2625106	0.49313	0.28004578	0.53976	-3.955	0.23248	T	.	.	0.131	0.41557	B	.;.;.;.;.;.	.;.;.;.;.;.	3.834872	0.55457	23.6	0.99597041628842786	0.73983	0.55988	0.30003	D	AEFDGBCI	0.428039	0.49173	N	0.0848129862562433	0.45754	2.826759	0.098532864531189	0.44475	2.728573	0.999999979874007	0.74766	0.722319	0.85440	0	0.514364	0.08380	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.46	4.46	0.53567	3.850000	0.55627	11.442000	0.92771	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	12.816	0.57045	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.003788	0.05	1335.43	36	chr12	53061154	.	G	A	1335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.406;SOR=0.624	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1347,0,1519	9	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	678.61	78	chr12	54363394	.	G	A	678.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.666;DP=970;ExcessHet=2.8389;FS=217.393;InbreedingCoeff=-0.4287;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.14;SOR=9.401	GT:AD:DP:GQ:PL	0/1:77,36:119:99:157,0,1627	3	0	5	2
chr12	55321260	55321260	A	G	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.A661G:p.R221G	.	427	1092	3	0	0	3	0.00137174	.	.	.	3459393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00421011793466	0.0002	.	4.124e-05	0	8.669e-05	0	0	6.002e-05	0	0	3.23e-05	5	154602	rs374079293	3.695e-05	3.694e-05	4.357e-05	3.026e-05	0.0012	2.894e-05	2.593e-05	0.0006	0.0004	0	0.0001	0	0	0	0.0012	3.418e-05	3.312e-05	2.319e-05	2.627e-05	2.626e-05	1.284e-05	4.034e-05	4.409e-05	8.14e-06	5.14e-06	1.17e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0	0.034	0.44029	D	0.259	0.23097	T	0.003	0.11197	B	0.022	0.19653	B	0.185457	0.16989	N	0.564641	1	0.08975	N	1.29	0.32370	L	1.05	0.39990	T	-4.78	0.80510	D	0.31	0.34981	-0.9890	0.32853	T	0.097	0.36419	T	10	0.14028755	0.26667	T	0.00421	0.10153	T	0.094	0.27141	.	.	0.461495907335	0.45776	0.21798955400934994	0.21714	0.0149649370489	0.01426	0.173017024994	0.00045	T	0.014584	0.12389	T	-0.311695	0.07600	T	-0.459803	0.26620	T	0.0623342916369438	0.07531	T	0.543646	0.18539	T	0.25584608	0.48620	0.28520092	0.54521	0.25584608	0.48620	0.28520092	0.54520	-7.456	0.57300	T	.	.	0.110	0.21049	B	.;.	.;.	2.126375	0.27065	17.34	0.94044948794763372	0.24169	0.17840	0.20010	N	AEFBI	0.124689	0.24085	N	-0.755359723132479	0.14488	0.7221132	-0.812954567657659	0.14182	0.7396973	3.04060220443067E-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	2.1	0.26226	0.125000	0.15577	.	.	0.728000	0.85494	0.000000	0.06391	0.000000	0.08366	0.240000	0.23001	0.442:0.1436:0.0:0.4144	5.746	0.17388	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	2472.43	161	chr12	55321260	.	A	G	2472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.965;DP=1541;ExcessHet=0;FS=2.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.013;SOR=0.923	GT:AD:DP:GQ:PL	0/1:86,99:185:99:2484,0,2383	9	0	1	0
chr12	56165330	56165330	G	C	exonic	SMARCC2	.	nonsynonymous SNV	SMARCC2:NM_003075:exon26:c.C3127G:p.P1043A,SMARCC2:NM_001130420:exon27:c.C3220G:p.P1074A,SMARCC2:NM_001330288:exon27:c.C3220G:p.P1074A,SMARCC2:NM_139067:exon27:c.C3220G:p.P1074A	.	425	1086	11	0	0	11	0.00503894	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	.	0.00319489	0.0018	0.0002	0.0003	0	0	0.0002	0	0.0186	0.0014748	228	154602	rs144685761	0.0010	0.0010	0.0007	0.0014	0.0161	0.0010	0.0009	0.0153	0.0150	0.0003	0.0002	0	0.0005	2.072e-05	0.0003	0.0002	0.0009	0.0161	0.0005	0.0005	0.0003	0.0008	0.0131	0.0004	0.0004	0.0105	0.0095	0.0002	0	0	0	0.0004	9.416e-05	0	7.35e-05	0	0.0131	0.203	0.53172	T	0.206	0.27056	T	0.007	0.14184	B	0.005	0.11217	B	0.000021	0.55875	D	0.000000	0.749633	0.33914	D	0.55	0.14455	N	0.44	0.56609	T	-0.47	0.20791	N	0.364	0.40565	-1.0001	0.29888	T	0.074	0.29865	T	10	0.0052150786	0.00113	T	.	.	.	0.079	0.23065	0.309	0.28128	0.265735104816	0.26182	0.11932536638594597	0.11859	0.145909194508	0.16476	0.583046913147	0.50515	T	0.013	0.29183	T	-0.436521	0.01356	T	-0.384872	0.35151	T	0.0143713824052965	0.00288	T	0.786321	0.46599	T	0.079103865	0.18053	0.091889955	0.21627	0.0779598	0.17726	0.08553201	0.19755	-4.005	0.27470	T	.	.	0.046	0.00066	B	.;.;.;.	.;.;.;.	2.276269	0.29103	18.01	0.96232696952722963	0.29122	0.58369	0.30623	D	AEFDBHCI	0.189661	0.31691	N	-0.32598418277954	0.28165	1.551212	-0.120667572749718	0.34558	1.989196	0.999989625878895	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.49	3.53	0.39533	0.701000	0.25293	7.151000	0.57677	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.7741:0.2259	11.932	0.52137	250	0.90192	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001532	0.000000	0.000000	0.005952	0.000000	0.000000	0.000000	0.003817	0.05	637.43	35	chr12	56165330	.	G	C	637.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.934;DP=391;ExcessHet=0;FS=1.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-2.26;SOR=0.459	GT:AD:DP:GQ:PL	0/1:45,32:77:99:649,0,1115	9	0	1	0
chr12	56601026	56601026	C	T	exonic	BAZ2A	.	nonsynonymous SNV	BAZ2A:NM_001300905:exon22:c.G4367A:p.R1456Q,BAZ2A:NM_013449:exon22:c.G4373A:p.R1458Q,BAZ2A:NM_001351156:exon24:c.G4277A:p.R1426Q	.	.	.	.	.	.	.	.	.	.	.	3301539	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.307	0.128559277079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1006050937	2.743e-06	2.736e-06	4.092e-06	1.379e-06	2.993e-05	6.4e-07	4.3e-07	.	.	2.993e-05	0	0	0	1.879e-05	0	9.007e-07	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	0.74	0.50459	T	-3.2	0.68764	D	0.455	0.49237	-0.5719	0.65939	T	0.299	0.67017	T	10	0.6545311	0.69796	D	0.128559	0.81052	D	0.307	0.62838	0.561	0.68093	0.718068304799	0.71558	0.7681319148323212	0.76762	1.24671669399	0.81698	0.61271572113	0.54700	T	0.330762	0.70091	T	0.151049	0.69366	D	-0.020805	0.68975	D	0.98032134771347	0.73299	D	0.990301	0.96997	D	0.6114768	0.73307	0.57325166	0.75283	0.6114768	0.73308	0.57325166	0.75283	-8.278	0.62949	D	.	.	0.433	0.63613	A	.;.;.;.	.;.;.;.	5.058912	0.84304	28.3	0.99955735913469335	0.99975	0.96558	0.69741	D	AEFDGBCI	0.890788	0.82615	D	0.795238705746555	0.85806	8.687659	0.780211606539736	0.88385	9.562401	0.999999999999184	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	7.581000	0.81826	6.014000	0.52691	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.874000	0.41677	0.0:1.0:0.0:0.0	18.560	0.91050	73	0.96914	WHIM2 domain;WHIM2 domain;WHIM2 domain;WHIM2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2535.43	39	chr12	56601026	.	C	T	2535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=579;ExcessHet=0;FS=8.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.1;SOR=1.191	GT:AD:DP:GQ:PL	0/1:130,99:229:99:2547,0,3199	9	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	254.49	72	chr12	56716773	.	G	C	254.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.619;DP=670;ExcessHet=0.7463;FS=223.803;InbreedingCoeff=-0.1778;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.538;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,16:69:99:0|1:56716773_G_C:129,0,1307:56716773	7	0	3	0
chr12	56717544	56717544	G	T	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C3986A:p.P1329H	.	426	1094	1	0	1	2	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.236503085061	.	.	0.0001	0	0	0	0	0.0002	0	0.0003	0.00011	17	154602	rs767630213	0.0001	0.0002	9.075e-05	0.0001	0.0003	8.71e-05	8.143e-05	0.0001	0.0001	0.0001	0	0.0017	4.377e-05	0	0.0003	6.722e-05	0.0003	0.0002	8.631e-05	0.0003	0.0001	6.799e-05	4.883e-05	5.007e-05	4.001e-05	1.181e-05	6.27e-06	4.883e-05	0	0	0.0023	0	0	0	4.448e-05	0	0	0.0	0.91255	D	0.035	0.52389	D	0.997	0.70673	D	0.712	0.54560	P	.	.	.	.	1	0.81001	D	.	.	.	0.94	0.43672	T	-0.68	0.19509	N	0.229	0.25745	-1.0103	0.26823	T	0.141	0.46016	T	7	0.043607265	0.03229	T	0.236503	0.88503	D	0.091	0.26358	0.303	0.27164	0.327419511103	0.32360	.	.	.	.	.	.	.	0.090812	0.38663	T	-0.460796	0.00972	T	-0.604843	0.12408	T	0.0761419028771863	0.09487	T	0.265573	0.04334	T	0.104010515	0.24586	0.14393446	0.34189	0.104010515	0.24586	0.14393446	0.34188	-5.982	0.46129	T	.	.	0.203	0.42735	B	.	.	1.780691	0.22640	15.70	0.50182050468065631	0.04339	0.36188	0.25476	N	AEFDBCI	0.190083	0.31732	N	-0.259459540554795	0.30726	1.716066	-0.440671993732231	0.23814	1.300675	0.999999838325268	0.74766	0.475973	0.10046	0	0.289287	0.05216	2	0.536957	0.11973	0	0.528226	0.09195	0	.	.	3.69	3.69	0.41483	0.540000	0.22900	0.137000	0.15122	0.604000	0.46097	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1098:0.0:0.8902:0.0	9.481	0.38067	45	0.97767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1237.43	47	chr12	56717544	.	G	T	1237.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.589;DP=543;ExcessHet=0;FS=5.533;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.68;MQRankSum=1.56;QD=14.56;ReadPosRankSum=2.04;SOR=0.818	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1249,0,1052	9	0	1	0
chr12	56957407	56957407	C	T	exonic	RDH16	.	nonsynonymous SNV	RDH16:NM_003708:exon1:c.G56A:p.R19Q	.	435	1085	2	0	0	2	0.00092081	.	.	.	3582973	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.295	0.061256019854	.	0.000199681	6.607e-05	0	8.637e-05	0	0	3.002e-05	0	0.0003	6.47e-05	10	154602	rs199814447	8.14e-05	8.14e-05	6.262e-05	0.0001	0.0010	6.935e-05	6.486e-05	0.0005	0.0003	0	0	0	5.038e-05	1.872e-05	0.0010	6.835e-05	0.0001	0.0003	5.254e-05	5.249e-05	8.997e-05	1.343e-05	0.0002	2.556e-05	1.829e-05	3.763e-05	2.576e-05	0	0	6.533e-05	0	0	0	0	8.823e-05	0	0.0002	0.013	0.53900	D	0.014	0.62352	D	0.858	0.47274	P	0.325	0.41883	B	0.001437	0.39044	N	0.102179	0.839538	0.28650	N	1.28	0.32218	L	-2.42	0.88611	D	-3.51	0.68298	D	0.159	0.16586	-0.0429	0.81357	T	0.532	0.82631	D	10	0.10614887	0.19656	T	0.061256	0.68271	D	0.295	0.61502	.	.	0.644380479949	0.64144	0.30372319471584475	0.30285	0.24915423998	0.27484	0.270541667938	0.06212	T	0.352323	0.71977	T	-0.246477	0.14533	T	-0.295632	0.45184	T	0.132938620130196	0.15652	T	0.829517	0.49484	T	0.15709345	0.35416	0.17655629	0.40198	0.15709345	0.35415	0.17655629	0.40197	-7.492	0.57554	T	.	.	0.136	0.29724	B	.	.	2.581853	0.33479	19.35	0.99915301843870608	0.98379	0.58135	0.30561	D	AEFDGBHCI	0.222406	0.34690	N	0.185767730521295	0.50516	3.240829	0.184574933692803	0.49000	3.108776	0.999992119558525	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.72	3.8	0.42887	0.131000	0.15696	-2.777000	0.03372	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.620000	0.31896	0.1627:0.7489:0.0:0.0884	7.583	0.27144	476	0.77720	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2556.43	33	chr12	56957407	.	C	T	2556.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.007;DP=548;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.468;SOR=0.659	GT:AD:DP:GQ:PL	0/1:111,105:216:99:2568,0,2695	9	0	1	0
chr12	57526581	57526581	C	G	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon7:c.C1436G:p.P479R	.	419	1086	15	2	0	19	0.00867184	.	.	.	3208947	MBD6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0002	0.00219649	0.0007	0	0	0	0	3.212e-05	0.0013	0.0078	0.0006209	96	154602	rs377266092	0.0005	0.0005	0.0002	0.0008	0.0083	0.0005	0.0005	0.0077	0.0075	0	0.0003	5.058e-05	0	4.052e-05	0.0038	3.198e-05	0.0008	0.0083	0.0004	0.0004	0.0002	0.0005	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0	0	0	2.941e-05	0	0.0110	0.0	0.91255	D	0.0	0.92824	D	0.133	0.27236	B	0.123	0.32463	B	0.022251	0.26671	N	0.259713	0.89591	0.36058	D	0.695	0.17993	N	.	.	.	-0.86	0.23372	N	0.443	0.48134	-0.9578	0.39589	T	0.078	0.31012	T	9	0.0056697726	0.00126	T	.	.	.	0.057	0.16321	.	.	0.043077524339	0.03247	0.21878539586201898	0.21794	0.0478677844679	0.05220	0.647527337074	0.59635	T	0.038321	0.24796	T	-0.366145	0.03794	T	-0.294434	0.45309	T	0.0527051028473688	0.05968	T	0.771423	0.40183	T	0.19242324	0.40911	0.1641021	0.38033	0.19242324	0.40911	0.1641021	0.38032	-6.074	0.46894	T	.	.	0.202	0.42692	B	.;.	.;.	3.370381	0.46573	22.3	0.92364998403707177	0.21769	0.71687	0.35121	D	AEFDGBCI	0.208870	0.33491	N	-0.473000704150568	0.22967	1.230126	-0.335881417086727	0.26950	1.492071	0.999993563667077	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.96	3.06	0.34374	1.028000	0.29734	4.639000	0.44147	-0.218000	0.08083	0.903000	0.31499	1.000000	0.68203	0.958000	0.51230	0.1946:0.8054:0.0:0.0	10.506	0.44024	410	0.82135	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.15	1496.45	37	chr12	57526581	.	C	G	1496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.718;DP=386;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.201;SOR=0.741	GT:AD:DP:GQ:PL	0/1:36,23:59:99:483,0,980	7	0	3	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	279.11	50	chr12	70329450	.	T	C	279.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.318;DP=612;ExcessHet=0.2348;FS=251.157;InbreedingCoeff=-0.3356;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=-0.042;SOR=6.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,12:89:89:0|1:70329450_T_C:89,0,2697:70329450	2	0	2	6
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	283.04	50	chr12	70329451	.	G	A	283.04	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.818;DP=605;ExcessHet=0.2348;FS=258.281;InbreedingCoeff=-0.3333;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=0.036;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,13:90:96:0|1:70329450_T_C:96,0,2694:70329450	2	0	2	6
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	339.01	50	chr12	70635944	.	G	A	339.01	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.055;DP=680;ExcessHet=1.5895;FS=383.437;InbreedingCoeff=-0.3405;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.752;SOR=9.735	GT:AD:DP:GQ:PL	0/1:66,27:93:20:20,0,1381	4	0	4	2
chr12	80310704	80310704	A	G	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon30:c.A3400G:p.I1134V,OTOGL:NM_173591:exon30:c.A3400G:p.I1134V,OTOGL:NM_001378610:exon33:c.A3400G:p.I1134V,OTOGL:NM_001368062:exon34:c.A3265G:p.I1089V	Deafness, autosomal recessive 84B, Autosomal recessive	12	1503	6	1	0	8	0.00265428	.	.	.	230386	not_provided|not_specified|Inborn_genetic_diseases|OTOGL-related_disorder	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0232263080475	0.0030	0.00219649	0.0025	0.0002	0.0024	0	0.0003	0.0039	0.0034	0.0003	0.0026132	404	154602	rs117462138	0.0037	0.0037	0.0038	0.0036	0.0043	0.0036	0.0036	0.0042	0.0042	0.0007	0.0020	0.0074	0	0.0006	0.0024	0.0043	0.0029	0.0003	0.0024	0.0024	0.0026	0.0021	0.0039	0.0022	0.0021	0.0035	0.0034	0.0007	0	0.0023	0.0040	0	0.0007	0.0034	0.0039	0.0038	0.0008	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999437	0.21199	N	.	.	.	-0.92	0.75108	T	0.41	0.03407	N	0.137	0.13484	-0.9837	0.34140	T	0.066	0.27121	T	7	0.015127599	0.00318	T	0.023226	0.46179	T	0.099	0.28413	.	.	0.112648838833	0.10856	0.18592276383119322	0.18510	0.0211005451595	0.02089	0.312833666801	0.12336	T	.	.	.	-0.560979	0.00250	T	-0.574439	0.15044	T	0.00659066536948768	0.00074	T	0.464953	0.14626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.02960	B	.;.;.	.;.;.	0.454422	0.08244	4.985	0.43489571834481894	0.03278	0.22786	0.21862	N	AEFBI	0.097106	0.19593	N	-0.657167132112421	0.17252	0.8861476	-0.491519744108896	0.22386	1.215648	1.76905571507329E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.06	0.396	0.15532	1.010000	0.29500	1.237000	0.25081	-0.156000	0.11795	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.3345:0.1006:0.5649:0.0	8.403	0.31758	575	0.70088	Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;.;Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001554	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2553.43	37	chr12	80310704	.	A	G	2553.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.836;DP=513;ExcessHet=0;FS=0.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.025;SOR=0.662	GT:AD:DP:GQ:PL	0/1:76,111:187:99:2565,0,1797	9	0	1	0
chr12	98677505	98677505	A	C	exonic	APAF1	.	nonsynonymous SNV	APAF1:NM_001160:exon13:c.A1841C:p.E614A,APAF1:NM_013229:exon13:c.A1841C:p.E614A,APAF1:NM_181861:exon13:c.A1874C:p.E625A,APAF1:NM_181868:exon13:c.A1874C:p.E625A	.	427	1087	8	0	0	8	0.00366636	.	.	.	725323	APAF1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.075	.	0.0055	0.00299521	0.0064	0.0012	0.0048	0	0.0106	0.0089	0.0066	0.0022	0.0060737	939	154602	rs73142307	0.0069	0.0069	0.0069	0.0069	0.0073	0.0068	0.0067	0.0072	0.0071	0.0007	0.0048	0.0172	0	0.0116	0.0029	0.0073	0.0062	0.0024	0.0055	0.0055	0.0058	0.0051	0.0080	0.0052	0.0050	0.0074	0.0072	0.0011	0	0.0037	0.0182	0	0.0097	0.0034	0.0080	0.0024	0.0033	0.543	0.06735	T	0.276	0.22359	T	0.0	0.02946	B	0.002	0.11217	B	0.685744	0.10219	N	0.885835	0.999943	0.25721	N	-0.135	0.04517	N	0.24	0.59583	T	-0.99	0.26200	N	0.227	0.32481	-1.0325	0.19650	T	0.059	0.24871	T	10	0.006967008	0.00158	T	.	.	.	0.075	0.21907	.	.	0.604084794658	0.60091	0.2513566190325667	0.25049	0.265586840013	0.29113	0.334757745266	0.15652	T	0.170391	0.51812	T	-0.483046	0.00710	T	-0.457244	0.26900	T	0.00643129605102613	0.00072	T	0.829317	0.49671	T	0.09285556	0.21795	0.033448547	0.02242	0.09285556	0.21795	0.033448547	0.02242	-2.579	0.07438	T	.	.	0.080	0.09191	B	.;.;.;.;.;.	.;.;.;.;.;.	2.349174	0.30116	18.34	0.94615443580715064	0.25188	0.65840	0.32873	D	AEFBI	0.132489	0.25180	N	-0.524928794605111	0.21276	1.127939	-0.317902952322808	0.27520	1.527668	0.00772103089955726	0.11528	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.87	3.49	0.39065	1.479000	0.35061	3.164000	0.36582	0.756000	0.94297	0.670000	0.28348	1.000000	0.68203	0.998000	0.85391	0.6207:0.2476:0.1316:0.0	6.319	0.20415	851	0.35303	WD40-repeat-containing domain;.;.;.;.;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.000000	0.05	1720.43	33	chr12	98677505	.	A	C	1720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.027;DP=472;ExcessHet=0;FS=1.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.144;SOR=0.797	GT:AD:DP:GQ:PL	0/1:82,80:162:99:1732,0,1878	9	0	1	0
chr12	101764576	101764576	C	T	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon13:c.G2341A:p.V781M	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	372495	not_provided|Pseudo-Hurler_polydystrophy|Mucolipidosis_type_II	MedGen:C3661900|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577|MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.0153639746854	.	0.000199681	0.0003	0	0	0	0.0003	0.0005	0	0	0.0002652	41	154602	rs183435240	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	2.988e-05	0	3.828e-05	0	3.744e-05	0.0002	0.0003	0.0002	0.0001	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0004	4.808e-05	0	0	0	0	0.0003	0	0.0005	0.0005	0	0.11	0.29158	T	0.127	0.35082	T	0.304	0.32663	B	0.196	0.36635	B	0.172077	0.03118	N	1.580690	1	0.08975	N	0.69	0.16971	N	0.82	0.48142	T	-0.22	0.10480	N	0.136	0.13341	-1.0083	0.27448	T	0.072	0.29323	T	10	0.032052487	0.01349	T	0.015364	0.36047	T	0.053	0.14996	.	.	0.256793551483	0.25290	0.32021866309530495	0.31934	0.364354138027	0.38050	0.210732296109	0.00843	T	0.103957	0.41309	T	-0.560401	0.00252	T	-0.669303	0.07653	T	0.034735118767084	0.02762	T	0.786621	0.42528	T	0.018444806	0.00367	0.026076049	0.00679	0.018444806	0.00366	0.026076049	0.00679	-4.813	0.34743	T	0.1760203493410097	0.22438	0.078	0.06849	B	.	.	0.820916	0.11921	8.484	0.92777650731239847	0.22292	0.01530	0.05038	N	AEFDGBI	0.035242	0.04501	N	-0.833531185660661	0.12460	0.6074449	-0.859260051055588	0.13066	0.6757229	0.999983120859023	0.51787	0.732398	0.92422	0	0.723133	0.82719	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.96	1.41	0.21461	-0.171000	0.09872	-0.575000	0.08406	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.208000	0.22126	0.1404:0.3776:0.1385:0.3434	1.534	0.02387	470	0.78111	DMAP1-binding domain|DMAP1-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	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1593.43	35	chr12	101764576	.	C	T	1593.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.046;DP=505;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.034;SOR=0.703	GT:AD:DP:GQ:PL	0/1:117,73:190:99:1605,0,3119	9	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCT:p.V329Rfs*42	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1489.23	152	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCT	1489.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.85;DP=1300;ExcessHet=2.8389;FS=10.899;InbreedingCoeff=-0.3342;MLEAC=2;MLEAF=0.1;MQ=58.64;MQRankSum=-8.603;QD=2.17;ReadPosRankSum=-4.004;SOR=2.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,14:140:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:197,0,5214:103984920	8	0	2	0
chr12	103984922	103984922	-	TAAGG	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGG;NM_003211:exon8:c.964+2->TAAGG	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.148e-05	0.0003	1.26e-05	1.034e-05	4.798e-05	5.4e-06	3.91e-06	4.77e-06	3.07e-06	0	0	8.22e-05	4.798e-05	0	0	1.147e-05	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1258.66	152	chr12	103984922	.	T	TTAAGG	1258.66	.	AC=1;AF=0.063;AN=16;BaseQRankSum=4.89;DP=1210;ExcessHet=1.5895;FS=9.823;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.063;MQ=58.27;MQRankSum=-9.799;QD=2.32;ReadPosRankSum=-3.841;SOR=1.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,14:140:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:198,0,5213:103984920	7	0	1	2
chr12	111418869	111418869	C	T	exonic	SH2B3	.	nonsynonymous SNV	SH2B3:NM_005475:exon2:c.C724T:p.P242S	Erythrocytosis, somatic;Myelofibrosis, somatic;Thrombocythemia, somatic	7	1511	4	0	0	4	0.00132188	.	.	.	3883049	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.230	.	.	0.0127796	0.0012	0	0	0	.	0	0	0.0015	0.0006792	105	154602	rs78894077	0.0010	0.0010	0.0010	0.0009	0.0400	0.0009	0.0009	0.0380	0.0373	0	0	0	0.0400	0	0.0006	1.459e-05	0.0010	0.0002	0.0019	0.0019	0.0017	0.0022	0.0553	0.0018	0.0017	0.0501	0.0480	0	0	0.0003	0	0.0553	0	0	4.41e-05	0.0005	0	0.006	0.61437	D	0.04	0.50809	D	0.987	0.61912	D	0.887	0.62952	P	0.005938	0.32398	N	0.295873	0.999999	0.58761	D	2.595	0.75868	M	1.51	0.30937	T	-5.92	0.88963	D	0.557	0.58202	-1.0377	0.18016	T	0.014	0.05561	T	10	0.0091224015	0.00206	T	.	.	.	0.230	0.53062	.	.	0.916629319031	0.91578	0.6939273566364391	0.69333	0.341851203448	0.36127	0.72982108593	0.71479	T	0.868779	0.97148	D	-0.408888	0.02022	T	-0.321386	0.42422	T	0.198888038828519	0.20355	T	0.785321	0.42297	T	0.46226907	0.64812	0.46003574	0.68636	0.42637244	0.62514	0.39333284	0.64055	-10.541	0.77082	D	0.7243626657582629	0.80568	0.806	0.77560	P	.	.	4.736912	0.76355	26.5	0.9986824941115876	0.94637	0.98109	0.79674	D	AEFDBCI	0.759223	0.69762	D	0.632464947141006	0.75239	6.270884	0.571107593678874	0.72876	5.879707	0.999999999928782	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.87	3.87	0.43823	6.878000	0.75368	7.309000	0.58118	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	16.219	0.82064	613	0.66686	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	658.43	39	chr12	111418869	.	C	T	658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.03;SOR=0.746	GT:AD:DP:GQ:PL	0/1:33,25:58:99:670,0,751	9	0	1	0
chr12	120687345	120687347	CTG	-	exonic	MLEC	.	nonframeshift deletion	MLEC:NM_001303628:exon1:c.49_51del:p.L22del,MLEC:NM_014730:exon1:c.49_51del:p.L22del	.	428	1084	2	1	7	11	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0269	.	0.0116	0.0198	0.0213	0.0156	0.0057	0.0118	0.03	0.0108	0.0001537	4	26028	rs772341467	0.0007	0.0049	0.0006	0.0009	0.0034	0.0007	0.0007	0.0030	0.0028	0.0003	0.0009	0.0010	0.0003	0.0014	0.0005	0.0006	0.0008	0.0034	0	3.288e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042203	0.056180	0.044776	0.021583	0.071429	0.015625	0.034483	0.023529	0.05	57.39	34	chr12	120687344	.	ACTG	A	57.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.598;DP=291;ExcessHet=0;FS=2.35;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.604;SOR=0.191	GT:AD:DP:GQ:PL	0/1:33,4:37:69:69,0,1363	9	0	1	0
chr12	123881721	123881721	C	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon50:c.C8377T:p.R2793C,DNAH10:NM_001372106:exon51:c.C8731T:p.R2911C	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.120645806873	.	.	9.048e-05	0	0	0	0	0.0001	0	0.0001	1.29e-05	2	154602	rs759567865	2.434e-05	2.736e-05	1.695e-05	3.193e-05	0.0002	1.752e-05	1.546e-05	7.427e-05	5.018e-05	6.361e-05	0.0002	0	2.804e-05	6.089e-05	0	1.855e-05	0	2.539e-05	3.944e-05	3.941e-05	2.57e-05	5.384e-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	4.409e-05	0	0	.	.	.	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000010	0.62929	U	0.000000	1	0.81001	D	3.55	0.93268	H	.	.	.	.	.	.	.	.	-0.2511	0.76329	T	0.324	0.69255	T	10	0.7679258	0.76851	D	0.120646	0.80123	D	0.393	0.70844	0.55	0.66576	0.402614778071	0.39880	0.6213259258755341	0.62065	0.747903240983	0.63614	0.796496272087	0.81429	T	0.09325	0.39172	T	-0.0322712	0.47085	T	0.0120605	0.71116	D	0.989635169506073	0.79860	D	0.984901	0.94786	D	0.6522709	0.75485	0.4777092	0.69742	0.6522709	0.75487	0.4777092	0.69743	-9.496	0.70834	D	.	.	0.243	0.47697	B	.;.	.;.	3.736468	0.53476	23.4	0.99901502148813481	0.97350	0.88057	0.47821	D	AEFDBI	0.482848	0.52354	N	0.464161687702577	0.65011	4.769086	0.312596090831214	0.56280	3.791035	0.00282184697857844	0.09733	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.68	4.79	0.60909	2.474000	0.44812	2.657000	0.33854	0.599000	0.40250	0.979000	0.35152	0.992000	0.31684	0.247000	0.23184	0.4034:0.5966:0.0:0.0	13.460	0.60678	667	0.61242	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001193	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.009009	0.05	1435.43	40	chr12	123881721	.	C	T	1435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.683;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.8;SOR=0.722	GT:AD:DP:GQ:PL	0/1:61,64:125:99:1447,0,1282	9	0	1	0
chr12	124012566	124012566	A	G	exonic	ZNF664	.	nonsynonymous SNV	ZNF664:NM_001204298:exon5:c.A422G:p.K141R,ZNF664:NM_152437:exon5:c.A422G:p.K141R	.	410	1021	91	0	0	91	0.0426629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0055	0.0109824	0.0125	0.0008	0.0078	0	0.0011	0.0108	0.0188	0.0410	0.0112547	1740	154602	rs150362388	0.0088	0.0090	0.0078	0.0098	0.0396	0.0087	0.0086	0.0385	0.0380	0.0010	0.0061	0.0409	2.519e-05	0.0022	0.0243	0.0063	0.0130	0.0396	0.0067	0.0070	0.0060	0.0074	0.0446	0.0064	0.0062	0.0397	0.0378	0.0010	0.0618	0.0057	0.0414	0	0.0010	0.0204	0.0066	0.0066	0.0446	0.048	0.40068	D	0.05	0.48080	T	0.998	0.73220	D	0.956	0.69739	D	0.000711	0.42254	D	0.000000	0.995453	0.42699	D	0.47	0.13106	N	1.83	0.24841	T	-2.33	0.51646	N	0.019	0.00279	-1.0759	0.08164	T	0.069	0.28147	T	10	0.004956186	0.00106	T	.	.	.	0.164	0.42212	.	.	.	.	0.0231800799893291	0.02270	1.82181212601	0.91961	0.833988547325	0.87174	D	0.030176	0.21449	T	-0.433228	0.01418	T	-0.389105	0.34655	T	0.0161618254466552	0.00392	T	0.773923	0.40554	T	0.10536492	0.24911	0.120088995	0.28984	0.10536492	0.24911	0.120088995	0.28983	-6.775	0.52373	T	.	.	0.224	0.46458	B	.;.;.;.	.;.;.;.	3.907745	0.56965	23.8	0.99852841245123192	0.93191	0.97984	0.78636	D	AEFBI	0.688240	0.64931	D	0.467145638787452	0.65182	4.790512	0.456292471123958	0.65122	4.784035	0.999996081217093	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	2.148000	0.41859	8.602000	0.77731	0.658000	0.54486	0.927000	0.32177	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.974	0.52370	749	0.51929	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.005051	0.010870	0.014620	0.000000	0.008621	0.024390	0.045455	0.1	1674.14	33	chr12	124012566	.	A	G	1674.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.404;DP=577;ExcessHet=0.2348;FS=2.356;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=0.95;SOR=0.865	GT:AD:DP:GQ:PL	0/1:83,38:121:99:904,0,2361	8	0	2	0
chr13	23891902	23891902	A	C	exonic	C1QTNF9B;PCOTH	.	nonsynonymous SNV	C1QTNF9B:NM_001007537:exon3:c.T389G:p.V130G,PCOTH:NM_001014442:exon4:c.A295C:p.T99P,PCOTH:NM_001135816:exon4:c.A322C:p.T108P,PCOTH:NM_001348112:exon4:c.A322C:p.T108P,PCOTH:NM_001348113:exon4:c.A295C:p.T99P,PCOTH:NM_001348114:exon4:c.A295C:p.T99P	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441	.	0.0011	.	0.0053	0.0010	0.0023	0	0.0055	0.0081	0.0139	0.0008	5.82e-05	9	154602	rs140408648	0.0038	0.0072	0.0040	0.0037	0.0080	0.0038	0.0037	0.0062	0.0055	0.0008	0.0015	0.0010	0	0.0019	0.0080	0.0046	0.0027	0.0004	0.0020	0.0045	0.0022	0.0018	0.0030	0.0018	0.0018	0.0027	0.0025	0.0009	0	0.0030	0	0	0.0013	0	0.0030	0.0024	0	0.173	0.22573	T	0.374	0.16280	T	0.976	0.58310	D	0.559	0.49531	P	0.000215	0.47681	D	0.140344	0.999999	0.81001	D	.	.	.	-1.83	0.84122	D	-2.26	0.50502	N	0.292	0.33030	-0.4410	0.70697	T	0.377	0.73445	T	10	0.01510039	0.00317	T	.	.	.	0.441	0.74447	.	.	0.866495554984	0.86519	0.40713664030771324	0.40629	1.31428007276	0.83300	0.441312164068	0.30756	T	0.008088	0.07445	T	0.0907628	0.63276	D	-0.107402	0.62818	T	0.0726806938428825	0.09022	T	0.551745	0.19033	T	0.1286578	0.30073	0.11022895	0.26577	0.1286578	0.30073	0.11022895	0.26576	-5.986	0.46163	T	.	.	0.137	0.29833	B	.;.	.;.	3.064739	0.41174	21.3	0.99018279218994965	0.50527	0.96645	0.70187	D	AEFDI	0.725150	0.67423	D	0.00559510834449038	0.42109	2.531043	-0.025503857379337	0.38567	2.274031	0.95648498402232	0.28250	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.26	3.04	0.34171	6.703000	0.74456	7.907000	0.73837	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.75:0.0:0.0871:0.1629	4.953	0.13375	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010778	0.000000	0.015068	0.017442	0.000000	0.017241	0.000000	0.012195	0.05	402.43	90	chr13	23891902	.	A	C	402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1;DP=803;ExcessHet=0;FS=3.217;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.52;MQRankSum=-8.213;QD=1.81;ReadPosRankSum=-0.381;SOR=0.573	GT:AD:DP:GQ:PL	0/1:185,37:222:99:414,0,5058	9	0	1	0
chr13	23894139	23894139	C	A	exonic	C1QTNF9B	.	stopgain	C1QTNF9B:NM_001007537:exon2:c.G229T:p.G77X	.	413	1099	9	1	0	11	0.00497963	1.0000	0.966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0004	0	0.0003	0	0	0.0004	0	0.0014	0.000401	62	154602	rs199574883	0.0003	0.0003	0.0002	0.0003	0.0054	0.0003	0.0003	0.0039	0.0034	6.296e-05	0.0003	0.0043	0	0	0.0054	0.0001	0.0007	0.0009	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0002	0.0006	0.0004	0	0	0.0009	0.0040	0	0	0	0.0003	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.268	0.30347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289279	0.82096	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	10.528618	0.99777	48	0.98240014632665917	0.39476	0.93039	0.57172	D	AEFI	0.851228	0.76807	D	0.751205478583221	0.82983	7.89964	0.504302395158979	0.68278	5.198229	0.99735590279446	0.35530	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.83	3.83	0.43287	4.929000	0.63156	7.471000	0.59152	0.426000	0.20854	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:1.0:0.0:0.0	14.356	0.66297	293	0.88320	.;.;.	.	.	.	.	.	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	0.003052	0.000000	0.002717	0.006098	0.000000	0.008621	0.003067	0.000000	0.05	2005.43	35	chr13	23894139	.	C	A	2005.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.734;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.8;MQRankSum=-6.811;QD=12.94;ReadPosRankSum=0.444;SOR=0.732	GT:AD:DP:GQ:PL	0/1:75,80:155:99:2017,0,1930	9	0	1	0
chr13	24321155	24321155	T	G	exonic	C1QTNF9	.	nonsynonymous SNV	C1QTNF9:NM_001303138:exon4:c.T389G:p.V130G,C1QTNF9:NM_178540:exon4:c.T389G:p.V130G,C1QTNF9:NM_001303137:exon5:c.T389G:p.V130G	.	499	1017	4	2	0	8	0.00391773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.227364938353	0.0005	.	0.0014	0	0.0004	0	0	0.0028	0.0044	0.0002	0.0003105	48	154602	rs370479349	0.0056	0.0066	0.0058	0.0055	0.0066	0.0055	0.0055	0.0065	0.0064	0.0009	0.0025	0.0020	0	0.0044	0.0061	0.0066	0.0048	0.0007	0.0033	0.0050	0.0039	0.0026	0.0057	0.0030	0.0029	0.0052	0.0050	0.0008	0	0.0039	0.0008	0	0.0016	0	0.0057	0.0042	0	0.214	0.19361	T	0.371	0.16425	T	0.986	0.61523	D	0.855	0.60933	P	0.000215	0.47681	D	0.140344	1	0.81001	D	1.21	0.30464	L	-1.83	0.84122	D	-2.22	0.49846	N	0.179	0.19325	0.152	0.85092	D	0.614	0.86347	D	9	0.01645273	0.00347	T	0.227365	0.88088	D	0.490	0.77720	.	.	0.8504562734	0.84902	0.6417025812950298	0.64105	.	.	0.477800369263	0.35754	T	0.351578	0.71913	T	-0.304361	0.08253	T	-0.203431	0.54320	T	0.0386264717755585	0.03443	T	0.563744	0.19863	T	0.21722893	0.44201	0.22990812	0.48078	0.21722893	0.44201	0.22990812	0.48077	-5.908	0.45503	T	.	.	0.127	0.26886	B	.;.	.;.	3.030924	0.40599	21.2	0.99096206229383477	0.52346	0.95660	0.65617	D	AEFDI	0.735230	0.68110	D	0.277228000887835	0.54996	3.66409	0.182871719156668	0.48908	3.100639	0.97646288506238	0.29727	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	3.96	3.96	0.45097	4.594000	0.60750	4.946000	0.46247	0.485000	0.22221	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.1006:0.0:0.8994	7.404	0.26152	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003307	0.000000	0.004360	0.000000	0.000000	0.019231	0.000000	0.000000	0.05	98.42	11	chr13	24321155	.	T	G	98.42	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.524;DP=174;ExcessHet=0;FS=0;InbreedingCoeff=-0.1142;MLEAC=1;MLEAF=0.05;MQ=27;MQRankSum=0;QD=16.4;ReadPosRankSum=-0.431;SOR=0.368	GT:AD:DP:GQ:PL	0/1:2,4:6:45:109,0,45	9	0	1	0
chr13	24764229	24764229	G	C	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon1:c.G26C:p.G9A,RNF17:NM_031277:exon1:c.G26C:p.G9A	.	407	1113	2	0	0	2	0.000897666	.	.	.	2759592	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0114801893307	7.7e-05	.	2.513e-05	0	0	0	0	4.572e-05	0	0	2.59e-05	4	154602	rs375993919	0.0001	0.0001	0.0001	0.0001	0.0003	9.33e-05	8.791e-05	0.0001	0.0001	2.998e-05	0	0	0	0	0.0003	0.0001	0.0002	1.168e-05	3.284e-05	3.283e-05	5.137e-05	1.344e-05	5.879e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	2.411e-05	0	0	0	0	0	0	5.879e-05	0	0	0.183	0.26965	T	0.993	0.02610	T	0.034	0.20480	B	0.023	0.19966	B	0.013364	0.01362	N	3.053280	1	0.08975	N	0.345	0.11182	N	3.38	0.19311	T	-0.5	0.26200	N	0.122	0.15609	-1.0785	0.07641	T	0.030	0.12892	T	10	0.08125058	0.13280	T	0.01148	0.29147	T	0.035	0.08770	.	.	0.0675242888579	0.06100	0.17038840348899625	0.16958	0.236179968621	0.26158	0.252925485373	0.04082	T	0.023285	0.17802	T	-0.514468	0.00473	T	-0.785092	0.02303	T	0.0922842638426544	0.11485	T	0.40366	0.10339	T	0.035578765	0.04215	0.031106168	0.01655	0.035578765	0.04214	0.031106168	0.01654	-3.287	0.13570	T	.	.	0.080	0.13315	B	.;.	.;.	-1.190733	0.00540	0.013	0.38041213467852458	0.02542	0.01541	0.05062	N	AEFBI	0.027587	0.02282	N	-1.13464792246159	0.06037	0.2768158	-1.18144199431207	0.06219	0.2987076	3.64675424279313E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.55	0.404	0.15574	-0.529000	0.06273	-0.473000	0.08966	-1.042000	0.01662	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.226:0.1782:0.413:0.1828	0.910	0.01211	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	701.43	34	chr13	24764229	.	G	C	701.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.95;SOR=0.781	GT:AD:DP:GQ:PL	0/1:23,29:52:99:713,0,493	9	0	1	0
chr13	29517278	29517278	C	T	exonic	SLC7A1	.	nonsynonymous SNV	SLC7A1:NM_003045:exon11:c.G1543A:p.V515M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.0646775800766	.	0.000599042	0.0001	0	0	0	0	1.623e-05	0	0.0008	0.0001035	16	154602	rs535160170	6.229e-05	6.293e-05	4.086e-05	8.395e-05	0.0007	5.165e-05	4.784e-05	0.0005	0.0005	0	2.244e-05	0	2.519e-05	0	0.0005	2.159e-05	9.94e-05	0.0007	8.534e-05	8.53e-05	8.991e-05	8.056e-05	0.0010	4.953e-05	3.959e-05	0.0004	0.0003	4.81e-05	0	6.533e-05	0	0.0002	0	0	5.88e-05	0	0.0010	0.141	0.25560	T	0.258	0.23164	T	0.963	0.55692	D	0.411	0.44827	B	0.002248	0.36929	N	0.256691	0.998367	0.44821	D	2.415	0.69758	M	-2.18	0.86722	D	-0.92	0.24676	N	0.315	0.35514	0.184	0.85647	D	0.576	0.84685	D	10	0.07090515	0.10381	T	0.064678	0.69351	D	0.407	0.71946	0.58	0.70604	0.58666542446	0.58340	0.5472391788794856	0.54649	1.05635220189	0.76320	0.353038221598	0.18369	T	0.390191	0.75043	T	-0.171301	0.25039	T	-0.126355	0.61278	T	0.144627996881417	0.16668	T	0.816518	0.47234	T	0.08056412	0.18467	0.073938034	0.16121	0.08056412	0.18467	0.073938034	0.16121	-5.8	0.44574	T	.	.	0.321	0.54594	B	.	.	3.645700	0.51717	23.1	0.99062977187826518	0.51528	0.90957	0.52583	D	AEFBCI	0.342850	0.43886	N	0.237725652127214	0.53034	3.474333	0.196665182317159	0.49664	3.166881	0.999999999093355	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	2.604000	0.45938	5.948000	0.51598	0.594000	0.32500	0.161000	0.23811	1.000000	0.68203	0.953000	0.50222	0.0:0.8528:0.1472:0.0	14.507	0.67344	958	0.09170	.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1120.43	35	chr13	29517278	.	C	T	1120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.08;DP=406;ExcessHet=0;FS=3.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.465;SOR=1.14	GT:AD:DP:GQ:PL	0/1:53,42:95:99:1132,0,1260	9	0	1	0
chr13	30713841	30713841	-	GT	exonic	ALOX5AP	.	frameshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGT:p.A40Wfs*25	.	585	586	0	0	351	351	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0263	0.0167	0.01	.	0.0067	0.0147	0.0200	0.225603	5872	26028	rs369636483	0.0003	0.0037	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0014	0.0004	0.0007	9.077e-05	0.0007	0.0001	0.0004	0.0012	7.233e-05	0.0001	7.041e-05	7.436e-05	0.0001	3.094e-05	2.103e-05	5.452e-05	3.56e-05	0.0001	0	0	0	0	0	0	3.702e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	7534.18	33	chr13	30713841	.	G	GGT	7534.18	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.025;DP=519;ExcessHet=0.0135;FS=1.169;InbreedingCoeff=0.5238;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=30.14;ReadPosRankSum=0.709;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,6:53:64:.:.:2249,1674,1536:.	9	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	1521.44	33	chr13	42303097	.	G	C	1521.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.533;DP=1112;ExcessHet=7.0302;FS=278.586;InbreedingCoeff=-0.5475;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.958;SOR=11.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,35:115:99:.:.:316,0,1931:.	3	0	7	0
chr13	45524994	45524994	A	G	exonic	COG3	.	nonsynonymous SNV	COG3:NM_031431:exon20:c.A2173G:p.M725V	.	.	.	.	.	.	.	.	.	.	.	3306897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.0183612320803	.	0.000199681	5.032e-05	0	0	0.0006	0	1.523e-05	0	0	5.17e-05	8	154602	rs201742099	2.737e-06	2.736e-06	1.362e-06	4.126e-06	7.558e-05	6.4e-07	4.3e-07	2.004e-05	1.055e-05	0	0	0	7.558e-05	0	0	8.994e-07	0	0	3.283e-05	3.281e-05	3.855e-05	2.685e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0002	0	0	0	0	0.0010	0	0	0	0	0	0.327	0.13262	T	0.743	0.04930	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.295	0.32453	L	0.78	0.49358	T	-0.98	0.25986	N	0.277	0.31365	-0.9863	0.33518	T	0.131	0.44208	T	10	0.05516985	0.05988	T	0.018361	0.40397	T	0.238	0.54217	.	.	0.772111025371	0.77002	0.49753498483106784	0.49674	0.271133807911	0.29636	0.595387578011	0.52253	T	0.013298	0.11527	T	-0.0948844	0.37268	T	-0.0176939	0.69181	D	0.207165244060908	0.20804	T	0.863614	0.55989	D	0.22743708	0.45444	0.18118499	0.40966	0.22743708	0.45444	0.18118499	0.40965	-2.806	0.08239	T	.	.	0.091	0.13221	B	.	.	3.507826	0.49109	22.7	0.94824297475206298	0.25597	0.98565	0.84156	D	AEFBI	0.879682	0.80581	D	0.0691744864914683	0.45029	2.76641	0.229189617876962	0.51475	3.329571	0.99999999989434	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	7.352000	0.78655	11.085000	0.85821	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.249	0.65556	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	807.43	46	chr13	45524994	.	A	G	807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.504;DP=402;ExcessHet=0;FS=1.884;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.005;SOR=1.022	GT:AD:DP:GQ:PL	0/1:46,33:79:99:819,0,1140	9	0	1	0
chr13	45596521	45596521	G	A	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon3:c.C485T:p.A162V	.	414	1101	7	0	0	7	0.00316885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00356623925023	0.0007	0.000199681	0.0014	0	0	0.0016	0	0.0008	0.0038	0.0029	0.0002781	43	154602	rs200132694	0.0007	0.0007	0.0007	0.0007	0.0022	0.0007	0.0007	0.0019	0.0018	6.33e-05	0.0001	0	0.0001	2.017e-05	0.0016	0.0007	0.0005	0.0022	0.0005	0.0005	0.0005	0.0005	0.0029	0.0004	0.0004	0.0017	0.0013	0.0003	0	6.735e-05	0	0	0.0001	0	0.0007	0.0005	0.0029	0.13	0.26740	T	0.266	0.22627	T	0.025	0.19245	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.28	0.06523	T	-0.18	0.09796	N	0.047	0.01911	-0.9464	0.41582	T	0.008	0.02842	T	9	0.00821209	0.00186	T	0.003566	0.08123	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.04838689820476113	0.04781	.	.	0.177696079016	0.00075	T	0.009579	0.08713	T	-0.743875	0.00019	T	-0.845916	0.01014	T	0.00723497013822091	0.00083	T	0.267173	0.04416	T	0.023806976	0.01152	0.0331624	0.02167	0.023806976	0.01152	0.0331624	0.02166	-3.194	0.12407	T	.	.	0.100	0.17275	B	.	.	-0.922616	0.00889	0.032	0.7549601281714029	0.11097	0.00874	0.03459	N	AEFBCI	0.027197	0.02181	N	-1.73960092830414	0.00711	0.03067388	-1.84502724505652	0.00626	0.02780385	0.0124730567162139	0.12332	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.34	-4.67	0.03080	-2.169000	0.01355	0.646000	0.20366	-1.312000	0.01234	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.1371:0.1174:0.4522:0.2934	2.624	0.04625	707	0.57054	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1967.43	183	chr13	45596521	.	G	A	1967.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=1338;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.337;SOR=0.776	GT:AD:DP:GQ:PL	0/1:101,82:183:99:1979,0,2316	9	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1754.69	104	chr13	69882456	.	G	A	1754.69	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.531;DP=1331;ExcessHet=22.563;FS=222.247;InbreedingCoeff=-0.9152;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.573;SOR=12.405	GT:AD:DP:GQ:PL	0/1:87,44:139:99:269,0,1116	0	0	10	0
chr13	78602247	78602247	-	CGC	exonic	POU4F1	.	nonframeshift insertion	POU4F1:NM_006237:exon2:c.427_428insGCG:p.G142_A143insG	.	502	1017	2	0	1	3	0.000982318	.	.	.	2735826	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1175117364	0.0020	0.0012	0.0020	0.0020	0.0022	0.0019	0.0019	0.0020	0.0020	0.0003	0.0019	0	0	0	0.0018	0.0021	0.0020	0.0022	0.0011	0.0011	0.0012	0.0010	0.0018	0.0009	0.0009	0.0016	0.0015	0.0003	0	0.0008	0	0.0002	0.0002	0	0.0018	0.0015	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	184.78	2	chr13	78602247	.	G	GCGC	184.78	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=72;ExcessHet=0;FS=0;InbreedingCoeff=-0.0789;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=30.8;ReadPosRankSum=-1.383;SOR=2.303	GT:AD:DP:GQ:PL	0/1:1,5:6:27:196,0,27	9	0	1	0
chr13	98435676	98435676	T	G	exonic	FARP1	.	nonsynonymous SNV	FARP1:NM_001286839:exon19:c.T2244G:p.I748M,FARP1:NM_005766:exon19:c.T2244G:p.I748M	.	.	.	.	.	.	.	.	.	.	.	3253071	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0204019600925	0.0003	0.000199681	0.0003	0	8.651e-05	0	0.0002	0.0005	0	6.061e-05	0.0002975	46	154602	rs140045465	0.0003	0.0003	0.0004	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	5.974e-05	0.0002	0	0	0.0001	0.0016	0.0004	0.0003	3.478e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	4.811e-05	0	6.533e-05	0	0	0.0005	0	0.0004	0	0.0002	0.01	0.56456	D	0.021	0.70582	D	0.785	0.44430	P	0.739	0.55653	P	0.000011	0.62929	D	0.111912	0.955888	0.42605	D	1.355	0.33814	L	-0.02	0.68616	T	-1.87	0.43717	N	0.515	0.56403	-1.0185	0.24204	T	0.134	0.44856	T	10	0.11001411	0.20547	T	0.020402	0.42987	T	0.257	0.56827	.	.	0.649823028507	0.64691	0.23790702805570096	0.23704	0.525146935747	0.50192	0.503521382809	0.39318	T	0.016936	0.23116	T	-0.224625	0.17366	T	-0.211003	0.53600	T	0.0915726012379235	0.11403	T	0.848615	0.61998	T	0.24056716	0.46961	0.16245541	0.37736	0.24056716	0.46961	0.16245541	0.37735	-7.417	0.57024	T	.	.	0.132	0.28863	B	.;.;.;.	.;.;.;.	1.822511	0.23161	15.91	0.99422739888814304	0.63838	0.33704	0.24892	N	AEFDGBI	0.354687	0.44668	N	-0.37141731151452	0.26492	1.446275	-0.372766362807554	0.25812	1.421817	0.998438529241043	0.36959	0.719381	0.83141	0	0.588015	0.36545	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.8	-0.892	0.10035	-0.482000	0.06623	-0.910000	0.06958	0.665000	0.62972	0.230000	0.24643	0.010000	0.20010	0.996000	0.76049	0.1424:0.355:0.0:0.5027	6.055	0.19032	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	.	.	.	.	.	.	.	.	0.05	1470.43	39	chr13	98435676	.	T	G	1470.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=417;ExcessHet=0;FS=3.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.346;SOR=1.086	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1482,0,1355	9	0	1	0
chr13	99982726	99982726	T	C	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.T662C:p.M221T	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0178519244245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.858e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.1	0.38742	T	0.978	0.58756	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999631	0.47961	D	2.645	0.77386	M	0.96	0.42888	T	-1.87	0.43717	N	0.763	0.76111	-0.7691	0.56907	T	0.203	0.55961	T	10	0.78815204	0.78426	D	0.017852	0.39707	T	0.259	0.57090	0.398	0.42590	0.811034351174	0.80926	0.467208398964936	0.46639	.	.	0.795973479748	0.81350	T	0.353995	0.72121	T	0.0407889	0.57148	T	-0.179186	0.56599	T	0.888951897621155	0.53961	D	0.928457	0.73631	D	0.40607628	0.61151	0.41964376	0.65952	0.40607628	0.61151	0.41964376	0.65952	-10.574	0.77271	D	.	.	0.781	0.76429	P	.	.	4.823570	0.78594	26.9	0.9367131463857612	0.23567	0.95548	0.65160	D	AEFDGBHCI	0.804071	0.72903	D	0.325505208218098	0.57460	3.913503	0.277729973607977	0.54242	3.589749	0.999999998195551	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.38	0.37806	6.224000	0.72210	7.804000	0.69231	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1454:0.0:0.0:0.8546	10.514	0.44066	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	82.43	41	chr13	99982726	.	T	C	82.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.803;DP=645;ExcessHet=0;FS=176.782;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=2.74;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,23:128:94:0|1:99982726_T_C:94,0,3570:99982726	9	0	1	0
chr13	99982727	99982727	G	A	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.G663A:p.M221I	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0159184047108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9e-07	6.84e-07	0	1.386e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.076	0.42614	T	0.949	0.53761	P	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.645	0.77386	M	0.99	0.41750	T	-0.79	0.21860	N	0.618	0.63374	-0.7967	0.55338	T	0.210	0.57041	T	10	0.57804793	0.65692	D	0.015918	0.36914	T	0.249	0.55752	0.404	0.43573	0.83317459961	0.83158	0.3345802821426066	0.33371	.	.	0.727138459682	0.71088	T	0.196354	0.55270	T	-0.028008	0.47707	T	-0.278008	0.47008	T	0.948795557022095	0.62972	D	0.922708	0.71908	D	0.39119276	0.60117	0.36198837	0.61613	0.39119276	0.60117	0.36198837	0.61612	-6.914	0.53403	T	.	.	0.743	0.74756	P	.	.	5.261154	0.88341	29.6	0.98257091433298727	0.39630	0.96662	0.70275	D	AEFDGBHCI	0.905015	0.85602	D	0.382278794840422	0.60462	4.235318	0.351322377151365	0.58589	4.03016	0.999999999966364	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.73	0.41982	9.937000	0.98857	11.686000	0.94288	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8473:0.1527	14.014	0.64028	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	394.15	41	chr13	99982727	.	G	A	394.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.838;DP=750;ExcessHet=0.2348;FS=203.067;InbreedingCoeff=-0.1113;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.35;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,23:128:94:0|1:99982726_T_C:94,0,3570:99982726	8	0	2	0
chr13	100262815	100262815	G	A	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001127692:exon9:c.G725A:p.R242H,PCCA:NM_001352607:exon9:c.G725A:p.R242H,PCCA:NM_001352608:exon9:c.G725A:p.R242H,PCCA:NM_000282:exon10:c.G803A:p.R268H,PCCA:NM_001178004:exon10:c.G803A:p.R268H,PCCA:NM_001352605:exon10:c.G803A:p.R268H,PCCA:NM_001352606:exon10:c.G803A:p.R268H,PCCA:NM_001352609:exon10:c.G803A:p.R268H	Propionicacidemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	641514	Inborn_genetic_diseases|Propionic_acidemia	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.945	0.605175758285	0.0002	.	4.153e-05	0	0	0	0	6.022e-05	0	6.066e-05	3.23e-05	5	154602	rs368047060	3.201e-05	4.127e-05	3.153e-05	3.247e-05	0.0002	2.381e-05	2.143e-05	2.142e-05	1.852e-05	0	0	0.0002	0	0	0.0002	3.054e-05	3.682e-05	4.907e-05	1.979e-05	1.973e-05	2.576e-05	1.353e-05	4.415e-05	5.26e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.415e-05	0	0	0.037	0.49613	D	0.044	0.49942	D	0.999	0.77913	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.18	0.61292	M	-4.59	0.97830	D	-4.7	0.80943	D	0.972	0.98750	1.107	0.99842	D	0.954	0.98514	D	10	0.94774556	0.94103	D	0.605176	0.96536	D	0.945	0.98886	.	.	0.983277451877	0.98309	0.897013663042011	0.89672	0.682436861569	0.60108	0.826317310333	0.85998	D	0.982216	0.99865	D	0.329562	0.85135	D	0.417144	0.92653	D	0.923365950584412	0.58397	D	0.993301	0.97813	D	0.5524094	0.70089	0.4048188	0.64899	0.5524094	0.70090	0.4048188	0.64899	-9.731	0.72285	D	0.4061025079128973	0.49717	0.473	0.63333	A	.;.;.	.;.;.	5.972338	0.94225	34	0.99929739712135379	0.99279	0.99755	0.99226	D	AEFI	0.880094	0.80650	D	0.887034587530501	0.91110	10.720	0.852356810966729	0.93152	11.85771	0.999999560586849	0.74766	0.706298	0.61202	0	0.666794	0.63253	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.23	5.23	0.72570	9.234000	0.94451	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.785	0.91916	843	0.36859	.;.;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	670.43	33	chr13	100262815	.	G	A	670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.753;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.22;SOR=0.706	GT:AD:DP:GQ:PL	0/1:23,26:49:99:682,0,557	9	0	1	0
chr13	110457378	110457378	G	A	exonic	COL4A2	.	nonsynonymous SNV	COL4A2:NM_001846:exon21:c.G1375A:p.A459T	Porencephaly 2, Autosomal dominant	0	1503	19	0	0	19	0.00628099	.	.	.	327368	COL4A2-related_disorder|Inborn_genetic_diseases|not_provided|Porencephaly_2	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013773,MedGen:C3280970,OMIM:614483,Orphanet:2940,Orphanet:99810	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.228	0.124901959827	0.0026	0.000798722	0.0021	0.0009	0.0011	0	0.0011	0.0030	0.0036	0.0015	0.0019987	309	154602	rs202017641	0.0025	0.0025	0.0025	0.0025	0.0030	0.0024	0.0024	0.0029	0.0029	0.0004	0.0009	3.826e-05	0	0.0005	0.0024	0.0030	0.0020	0.0014	0.0018	0.0018	0.0019	0.0017	0.0030	0.0017	0.0016	0.0026	0.0025	0.0009	0	0.0013	0	0	0.0005	0.0034	0.0030	0.0009	0.0021	0.596	0.05703	T	0.473	0.12142	T	0.02	0.18235	B	0.026	0.20792	B	0.553618	0.05384	N	1.332560	1	0.08975	N	0.145	0.08828	N	-2.73	0.90679	D	-0.2	0.10136	N	0.126	0.11912	-0.6493	0.62745	T	0.472	0.79700	T	10	0.03696385	0.02024	T	0.124902	0.80634	D	0.228	0.52768	.	.	0.473378105536	0.46967	0.19865148246700812	0.19782	0.823727238072	0.67295	0.340907931328	0.16574	T	0.294046	0.66674	T	-0.463607	0.00933	T	-0.442081	0.28576	T	0.00186051714047829	0.00019	T	0.79692	0.44048	T	0.024179742	0.01224	0.039879963	0.04183	0.024179742	0.01224	0.039879963	0.04183	-4.175	0.26388	T	0.08002028601118295	0.03997	0.073	0.04764	B	.	.	0.293702	0.06700	3.204	0.77741032790462505	0.12003	0.06253	0.12243	N	AEFDBI	0.089192	0.18079	N	-1.59384580610068	0.01295	0.05640923	-1.55214310564758	0.01961	0.08954632	0.998780717387356	0.37667	0.67177	0.52595	0	0.547309	0.14657	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.52	1.61	0.22752	0.412000	0.20852	0.458000	0.18589	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0876:0.3746:0.5378:0.0	9.687	0.39268	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.017241	0.003049	0.000000	0.05	2431.43	104	chr13	110457378	.	G	A	2431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=904;ExcessHet=0;FS=3.009;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-1.626;SOR=0.979	GT:AD:DP:GQ:PL	0/1:60,85:145:99:2443,0,1433	9	0	1	0
chr13	113404039	113404039	G	0	exonic	LOC101928841	.	.	.	.	897	593	26	2	4	34	0.0246711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3039.97	295	chr13	113404039	.	G	*	3039.97	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.336;DP=2185;ExcessHet=1.5895;FS=2.601;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.111;MQ=59.01;MQRankSum=-0.592;QD=4.68;ReadPosRankSum=0.702;SOR=0.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,35:77:99:.:.:974,0,1351:.	7	0	2	1
chr14	19976201	19976201	G	C	exonic	OR4K15	.	nonsynonymous SNV	OR4K15:NM_001005486:exon1:c.G683C:p.G228A	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.00656402270066	.	0.00159744	0.0012	0	0.0003	0	0	1.499e-05	0	0.0087	0.001022	158	154602	rs200611567	0.0005	0.0005	0.0003	0.0007	0.0082	0.0005	0.0005	0.0077	0.0075	5.98e-05	0	0	2.519e-05	0	0.0002	1.799e-06	0.0008	0.0082	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0	0	0	0	0	0.0093	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.984	0.76113	D	0.000084	0.51296	D	0.000000	0.909333	0.36369	D	1.72	0.44442	L	1.23	0.36872	T	-5.86	0.88561	D	0.113	0.10056	-0.6695	0.61851	T	0.180	0.52598	T	10	0.0044600368	0.00092	T	0.006564	0.17301	T	0.162	0.41843	0.514	0.61307	0.463873965229	0.46014	0.23375426244501468	0.23290	0.289363516436	0.31353	0.225940495729	0.01681	T	0.012299	0.10832	T	-0.458216	0.01008	T	-0.426126	0.30375	T	0.230825384567176	0.21991	T	0.889211	0.62120	D	0.8464186	0.87071	0.8434851	0.91069	0.8464186	0.87073	0.8434851	0.91070	-7.784	0.59588	D	.	.	0.16	0.35372	B	.;.	.;.	4.031696	0.59621	24.1	0.99751558660236972	0.84305	0.25544	0.22730	N	AEFI	0.136276	0.25689	N	0.181209281259909	0.50298	3.221085	0.0479623477479595	0.41972	2.530787	0.322973642700067	0.19403	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.08	4.08	0.46880	0.349000	0.19801	3.679000	0.39461	0.608000	0.46601	0.000000	0.06391	1.000000	0.68203	0.859000	0.40722	0.0:0.0:1.0:0.0	13.808	0.62739	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001074	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2093.43	34	chr14	19976201	.	G	C	2093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.417;DP=1121;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.65;MQRankSum=0.306;QD=13.59;ReadPosRankSum=-0.414;SOR=0.649	GT:AD:DP:GQ:PL	0/1:78,76:154:99:2105,0,2093	9	0	1	0
chr14	20429228	20429228	C	T	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001109997:exon4:c.G1223A:p.R408Q,KLHL33:NM_001365790:exon5:c.G2015A:p.R672Q	.	435	1083	4	0	0	4	0.00184332	.	.	.	2396735	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.747	0.119719075709	.	0.000399361	0.0003	0	0	0	0	0	0	0.0008	6.47e-05	10	154602	rs78943907	0.0001	0.0001	9.588e-05	0.0001	0.0010	9.679e-05	9.12e-05	0.0008	0.0007	6.33e-05	0.0002	0	0.0005	0	0.0004	3.985e-05	0.0002	0.0010	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0002	0	0.0003	0	0.0006	0	0	4.41e-05	0	0.0012	0.0	0.91255	D	0.019	0.59159	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.976406	0.39273	D	4.18	0.97724	H	-2.03	0.85613	D	-3.87	0.72594	D	0.82	0.81559	0.877	0.95372	D	0.823	0.94054	D	10	0.5580063	0.64628	D	0.119719	0.80008	D	0.747	0.91285	.	.	0.394685799254	0.39082	0.6855296696524381	0.68491	.	.	0.528979539871	0.42889	T	0.229506	0.84883	T	0.143917	0.68695	D	0.383509	0.91554	D	0.700403869152069	0.40738	D	0.864814	0.56255	D	0.77049243	0.82078	0.7313351	0.84124	0.77049243	0.82079	0.7313351	0.84125	-9.562	0.71244	D	.	.	0.410	0.60155	A	.;.	.;.	5.263220	0.88369	29.6	0.99957209629090416	0.99981	0.95811	0.66254	D	AEFDBCI	0.824894	0.74470	D	0.966111310685965	0.94603	12.88857	0.890830847145987	0.95160	13.36545	0.999999999998381	0.74766	0.559995	0.30671	0	0.491513	0.07743	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	5.44	5.44	0.79348	5.919000	0.69736	7.452000	0.58971	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.299	0.82630	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2486.43	82	chr14	20429228	.	C	T	2486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=1063;ExcessHet=0;FS=1.876;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-0.324;SOR=0.624	GT:AD:DP:GQ:PL	0/1:79,96:175:99:2498,0,1809	9	0	1	0
chr14	21001410	21001410	G	A	exonic	SLC39A2	.	nonsynonymous SNV	SLC39A2:NM_014579:exon4:c.G761A:p.R254Q	.	.	.	.	.	.	.	.	.	.	.	2378601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00398592869396	.	.	5.776e-05	0	0	0	0	6.004e-05	0	0.0002	5.17e-05	8	154602	rs772255805	2.463e-05	2.463e-05	1.225e-05	3.713e-05	0.0002	1.803e-05	1.6e-05	8.887e-05	7.054e-05	0	0	3.831e-05	0	3.744e-05	0	1.439e-05	6.624e-05	0.0002	5.255e-05	5.253e-05	8.991e-05	1.345e-05	0.0002	2.557e-05	1.83e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.57	0.06184	T	0.609	0.07716	T	0.002	0.09854	B	0.005	0.11217	B	0.977870	0.07821	N	1.011940	1	0.08975	N	-0.375	0.03072	N	0.87	0.46412	T	0.28	0.04233	N	0.049	0.02088	-0.9655	0.38112	T	0.048	0.20672	T	10	0.02816549	0.00951	T	0.003986	0.09431	T	0.052	0.14661	0.318	0.29581	0.190952846119	0.18690	0.1830012664118713	0.18219	0.0368355658946	0.03901	0.190783649683	0.00239	T	0.021427	0.16689	T	-0.483401	0.00707	T	-0.728548	0.04393	T	0.0148399674245441	0.00313	T	0.606739	0.22845	T	0.021924883	0.00823	0.037704322	0.03481	0.021924883	0.00822	0.037704322	0.03481	-3.986	0.23594	T	.	.	0.066	0.02173	B	.	.	0.090125	0.04941	1.512	0.49563768947656955	0.04232	0.05672	0.11589	N	AEFBI	0.075471	0.15156	N	-1.7933875575844	0.00561	0.02418378	-1.79027040732618	0.00791	0.03528697	0.97702236184063	0.29781	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.8	-4.81	0.02948	0.474000	0.21858	-0.094000	0.12022	-1.332000	0.01214	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	0.7952:0.0:0.2048:0.0	14.098	0.64561	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	3030.43	38	chr14	21001410	.	G	A	3030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=536;ExcessHet=0;FS=2.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=0.757;SOR=0.695	GT:AD:DP:GQ:PL	0/1:74,111:185:99:3042,0,1713	9	0	1	0
chr14	21634562	21634562	A	T	exonic	OR10G2	.	nonsynonymous SNV	OR10G2:NM_001005466:exon1:c.T281A:p.I94N	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00142462472076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377282773	2.053e-06	1.71e-05	4.084e-06	0	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	1.326e-05	0.0003	0	2.716e-05	2.444e-05	2.2e-06	8.3e-07	.	.	2.444e-05	0	0	0	0	0	0	1.477e-05	0	0	0.316	0.13744	T	0.489	0.11586	T	.	.	.	.	.	.	0.019774	0.27184	N	0.258283	1	0.08975	N	.	.	.	4.11	0.02916	T	2.35	0.00275	N	0.077	0.05162	-0.9096	0.46904	T	0.004	0.01400	T	10	0.06790173	0.09527	T	0.001425	0.02113	T	0.020	0.03691	0.327	0.31034	0.0482279557977	0.04254	0.0761118464690503	0.07547	0.0383258984852	0.04077	0.30839908123	0.11664	T	.	.	.	-0.421109	0.01683	T	-0.842671	0.01059	T	0.0992492242150564	0.12275	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07985	B	.	.	-0.326268	0.02504	0.295	0.44166110142026715	0.03376	0.01153	0.04166	N	AEFDGBI	0.021101	0.00903	N	-1.34215072895635	0.03207	0.1428647	-1.26687792120906	0.04886	0.2315522	5.54338654100446E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	3.79	1.97	0.25278	-1.657000	0.02081	-0.952000	0.06810	-1.724000	0.00724	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1815:0.7163:0.0:0.1021	6.352	0.20586	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	122.43	109	chr14	21634562	.	A	T	122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.62;DP=1124;ExcessHet=0;FS=20.255;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.06;MQRankSum=-11.16;QD=0.86;ReadPosRankSum=-4.648;SOR=2.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,14:142:99:0|1:21634562_A_T:134,0,5251:21634562	9	0	1	0
chr14	21634566	21634566	A	C	exonic	OR10G2	.	nonsynonymous SNV	OR10G2:NM_001005466:exon1:c.T277G:p.S93A	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000996177165173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1308175467	2.052e-06	8.893e-06	4.084e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.873e-05	0	1.799e-06	0	0	1.319e-05	0.0002	0	2.702e-05	2.426e-05	2.19e-06	8.2e-07	.	.	2.426e-05	0	0	0	0	0	0	1.473e-05	0	0	0.571	0.06164	T	0.531	0.10069	T	.	.	.	.	.	.	0.076592	0.21154	N	0.336486	1	0.08975	N	.	.	.	4.09	0.02973	T	-0.77	0.21429	N	0.035	0.01004	-0.9300	0.44139	T	0.006	0.02168	T	10	0.07767296	0.12287	T	9.96E-4	0.01050	T	0.027	0.05988	0.277	0.23004	0.0297737177859	0.01360	0.03447163969751868	0.03395	0.025315500999	0.02582	0.283850848675	0.08035	T	.	.	.	-0.43006	0.01481	T	-0.855528	0.00893	T	0.0226296676241193	0.00980	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05800	B	.	.	-0.284609	0.02687	0.348	0.35510395220934704	0.02232	0.00993	0.03770	N	AEFDGBI	0.019920	0.00737	N	-0.965350737098585	0.09351	0.4422129	-0.904549167901483	0.11986	0.6139934	0.00113623721164977	0.08261	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	3.79	2.9	0.32809	-0.141000	0.10308	-2.059000	0.04275	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2013:0.7986:0.0:0.0	10.301	0.42834	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	104.43	109	chr14	21634566	.	A	C	104.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.13;DP=1119;ExcessHet=0;FS=26.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.28;MQRankSum=-11.77;QD=0.75;ReadPosRankSum=-3.974;SOR=3.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,13:140:99:0|1:21634562_A_T:116,0,5267:21634562	9	0	1	0
chr14	22771544	22771544	G	A	exonic	OXA1L	.	nonsynonymous SNV	OXA1L:NM_005015:exon10:c.G1294A:p.D432N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0405367530524	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs754585288	2.873e-05	2.941e-05	1.77e-05	3.988e-05	0.0002	2.151e-05	1.908e-05	5.396e-05	4.042e-05	0	0	0	5.038e-05	0	0.0002	2.608e-05	1.656e-05	0.0001	1.972e-05	1.97e-05	2.57e-05	1.346e-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	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.9	0.55439	T	-1.94	0.45042	N	0.363	0.48963	-0.3065	0.74804	T	0.363	0.72407	T	10	0.27416986	0.44969	T	0.040537	0.59431	D	0.173	0.43840	.	.	0.876692708953	0.87548	0.5565430550153102	0.55581	0.390847452688	0.40287	0.505915522575	0.39652	T	0.061734	0.33738	T	-0.211588	0.19156	T	-0.316006	0.43012	T	0.814560651779175	0.47374	D	0.856214	0.54490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35829	B	.;.;.;.;.	.;.;.;.;.	4.687949	0.75090	26.3	0.9991932320206045	0.98654	0.97428	0.74687	D	AEFDBCI	0.915248	0.87977	D	0.74849674942657	0.82808	7.85478	0.691629663270963	0.81744	7.598594	0.999999999972776	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.55	5.55	0.83298	5.573000	0.67117	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.0:1.0:0.0	18.275	0.90021	916	0.20744	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2161.43	36	chr14	22771544	.	G	A	2161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=513;ExcessHet=0;FS=1.2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.48;SOR=0.824	GT:AD:DP:GQ:PL	0/1:92,86:178:99:2173,0,2314	9	0	1	0
chr14	23389488	23389488	C	G	exonic	MYH6	.	nonsynonymous SNV	MYH6:NM_002471:exon28:c.G3883C:p.E1295Q	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	0	1492	30	0	0	30	0.00995355	.	.	.	53659	Hypertrophic_cardiomyopathy_14|Cardiomyopathy|not_specified|Restrictive_cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.768	.	0.0030	0.00419329	0.0032	0.0006	0.0020	0.0175	0.0002	0.0026	0.0011	0.0024	0.003247	502	154602	rs34935550	0.0031	0.0031	0.0032	0.0031	0.0125	0.0031	0.0030	0.0116	0.0112	0.0007	0.0025	0.0015	0.0125	0.0002	0.0028	0.0031	0.0036	0.0022	0.0027	0.0027	0.0028	0.0027	0.0166	0.0025	0.0024	0.0138	0.0127	0.0006	0	0.0031	0.0017	0.0166	0.0003	0.0102	0.0033	0.0033	0.0027	0.001	0.78490	D	0.031	0.53788	D	0.993	0.65571	D	0.952	0.69102	D	.	.	.	.	0.999999	0.58761	D	3.02	0.86243	M	-1.55	0.81727	D	-2.12	0.48184	N	0.422	0.49420	0.499	0.90527	D	0.623	0.86718	D	9	0.010231346	0.00228	T	.	.	.	0.768	0.92170	.	.	0.925674000131	0.92491	0.4420870300183488	0.44125	0.787938224428	0.65625	0.565877318382	0.48096	T	0.664995	0.89991	D	-0.234432	0.16067	T	-0.0965478	0.63665	T	0.0172787489390638	0.00469	T	0.955504	0.83071	D	0.2839171	0.51421	0.34163815	0.59901	0.28292412	0.51327	0.43828914	0.67220	-14.923	0.95669	D	0.5510836441010479	0.61968	0.363	0.57386	A	.;.	.;.	4.496248	0.70279	25.5	0.99857872241100321	0.93639	0.98380	0.82188	D	AEFBI	0.962112	0.98360	D	0.862928964111963	0.89831	10.136	0.775668712946799	0.88058	9.441128	0.999999999913264	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	7.764000	0.84130	7.576000	0.60835	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	17.870	0.88723	368	0.84463	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.05	1774.43	42	chr14	23389488	.	C	G	1774.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=483;ExcessHet=0;FS=6.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.097;SOR=0.365	GT:AD:DP:GQ:PL	0/1:72,67:139:99:1786,0,1927	9	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	404.66	126	chr14	24300437	.	G	C	404.66	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.58;DP=1123;ExcessHet=2.8389;FS=300.645;InbreedingCoeff=-0.4294;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.59;SOR=10.2	GT:AD:DP:GQ:PL	0/1:100,32:132:41:41,0,2893	3	0	5	2
chr14	24606737	24606737	C	T	exonic	GZMH	.	nonsynonymous SNV	GZMH:NM_001270781:exon4:c.G349A:p.G117R,GZMH:NM_001270780:exon5:c.G415A:p.G139R,GZMH:NM_033423:exon5:c.G607A:p.G203R	.	.	.	.	.	.	.	.	.	.	.	3975019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.890	0.549553678389	.	.	1.66e-05	0	8.663e-05	0	0	1.507e-05	0	0	1.29e-05	2	154602	rs764634951	2.122e-05	2.189e-05	2.179e-05	2.064e-05	6.96e-05	1.521e-05	1.325e-05	2.996e-05	2.039e-05	0	4.476e-05	0	0	0	0	2.069e-05	0	6.96e-05	1.971e-05	1.97e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.005	0.63226	D	0.007	0.69154	D	1.0	0.90584	D	0.979	0.74454	D	.	.	.	.	1	0.81001	D	3.915	0.96218	H	-7.35	0.99869	D	-7.83	0.96005	D	0.872	0.86941	0.922	0.95981	D	0.995	0.99891	D	9	0.9896029	0.99430	D	0.549554	0.95841	D	0.890	0.96836	0.943	0.99256	0.963663113909	0.96327	0.8861562489663117	0.88584	0.582923355691	0.54028	0.3908213377	0.23786	T	0.86765	0.97114	D	0.374541	0.88355	D	0.481753	0.94252	D	0.861749039826265	0.51210	D	0.952105	0.81652	D	0.8744763	0.89219	0.70642763	0.82692	0.8744763	0.89220	0.70642763	0.82693	-8.35	0.63431	D	.	.	0.781	0.76403	P	.;.;.	.;.;.	3.547767	0.49856	22.8	0.99898618594865962	0.97124	0.90382	0.51513	D	AEFBI	0.315757	0.42024	N	0.621379928297767	0.74530	6.148138	0.426087380243552	0.63196	4.548546	0.999916337980434	0.45857	0.487112	0.14033	0	0.491513	0.07743	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	4.53	0.55009	3.081000	0.49818	1.369000	0.25941	0.599000	0.40250	0.771000	0.29368	0.001000	0.17328	0.044000	0.14658	0.0:1.0:0.0:0.0	13.495	0.60879	328	0.86572	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	630.43	34	chr14	24606737	.	C	T	630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.164;DP=377;ExcessHet=0;FS=0.992;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=1.89;SOR=0.475	GT:AD:DP:GQ:PL	0/1:43,28:71:99:642,0,1008	9	0	1	0
chr14	55044322	55044325	AGTT	-	exonic	SOCS4	.	frameshift deletion	SOCS4:NM_080867:exon2:c.1281_1284del:p.V428Efs*21,SOCS4:NM_199421:exon3:c.1281_1284del:p.V428Efs*21	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.116e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs749490375	4.859e-05	4.857e-05	1.771e-05	7.98e-05	0.0008	3.928e-05	3.606e-05	0.0006	0.0006	0	0	0	0	0	0.0004	8.996e-07	3.313e-05	0.0008	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	486.39	34	chr14	55044321	.	AAGTT	A	486.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.115;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-1.009;SOR=0.481	GT:AD:DP:GQ:PL	0/1:16,13:29:99:498,0,633	9	0	1	0
chr14	55436643	55436643	C	T	exonic	TBPL2	.	nonsynonymous SNV	TBPL2:NM_199047:exon2:c.G526A:p.D176N	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0168712132429	0.0003	0.00239617	0.0004	0.0025	0.0004	0.0001	0	0.0003	0	0	0.0004916	76	154602	rs147598963	0.0003	0.0003	0.0003	0.0003	0.0035	0.0003	0.0002	0.0023	0.0022	0.0028	0.0008	0	2.519e-05	5.616e-05	0.0035	0.0002	0.0009	3.478e-05	0.0009	0.0009	0.0009	0.0009	0.0020	0.0008	0.0007	0.0017	0.0015	0.0020	0	0.0014	0	0	0	0.0103	0.0003	0.0028	0.0002	0.689	0.04315	T	0.898	0.03065	T	0.0	0.02946	B	0.001	0.04355	B	0.054474	0.02061	N	1.920980	1	0.08975	N	0.145	0.08828	N	1.0	0.41392	T	0.36	0.03700	N	0.18	0.19459	-1.0516	0.13954	T	0.023	0.09878	T	10	0.0039066374	0.00074	T	0.016871	0.38326	T	0.007	0.00512	.	.	0.134241683229	0.13084	0.3273595641610811	0.32648	0.103303794064	0.11683	0.263094425201	0.05264	T	0.024465	0.18482	T	-0.728651	0.00024	T	-0.823737	0.01379	T	0.0040212613265003	0.00043	T	0.405859	0.10416	T	0.02536712	0.01468	0.03840833	0.03703	0.02536712	0.01468	0.03840833	0.03703	-3.379	0.14775	T	.	.	0.067	0.02578	B	.	.	0.435676	0.08059	4.783	0.4439951246608132	0.03411	0.06928	0.12953	N	AEFDGBI	0.173425	0.30050	N	-1.7080849070817	0.00813	0.03516949	-1.71494615349698	0.01073	0.0481672	0.999036012059273	0.38264	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.34	-4.41	0.03339	-2.049000	0.01493	-0.845000	0.07201	-0.254000	0.07082	0.000000	0.06391	0.000000	0.08366	0.081000	0.17303	0.2453:0.4235:0.1152:0.216	1.321	0.01989	414	0.81871	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.030303	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1576.43	34	chr14	55436643	.	C	T	1576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=433;ExcessHet=0;FS=0.685;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.3;SOR=0.833	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1588,0,1432	9	0	1	0
chr14	59540673	59540673	A	C	splicing	CCDC175	NM_001164399:exon11:c.1355+2T>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	6.5e-06	1	154602	rs776061115	1.339e-06	6.851e-06	2.704e-06	0	1.742e-06	0	0	.	.	0	0	0	0	0	0	1.742e-06	0	0	6.698e-05	0.0002	6.506e-05	6.901e-05	0.0002	1.109e-05	4.15e-06	2.983e-05	1.239e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305508	0.83401	D	0.201064	0.83185	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.251281	0.88165	29.5	0.99034892920652151	0.50895	0.88639	0.48662	D	AEFGBI	.	.	.	0.994981897801068	0.95588	13.76517	0.832108810297779	0.91929	11.14352	0.998822965898206	0.37755	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.956188	0.63694	5.05	5.05	0.67566	3.836000	0.55516	10.854000	0.83952	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	11.374	0.48956	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	100.82	52	chr14	59540673	.	A	C	100.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.162;DP=306;ExcessHet=0;FS=1.352;InbreedingCoeff=-0.1993;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=1.68;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,9:44:99:.:.:109,0,927:.	5	0	1	4
chr14	62950345	62950345	T	G	exonic	KCNH5	.	nonsynonymous SNV	KCNH5:NM_139318:exon7:c.A1157C:p.D386A,KCNH5:NM_172375:exon7:c.A1157C:p.D386A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.13075366048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.59928	D	0.121	0.35840	T	0.741	0.42992	P	0.309	0.41361	B	0.000001	0.84330	D	0.096300	1	0.81001	D	1.205	0.30389	L	-5.37	0.99036	D	-2.57	0.57275	D	0.706	0.70966	1.098	0.99565	D	0.928	0.97638	D	10	0.5492923	0.64163	D	0.130754	0.81294	D	0.748	0.91328	0.619	0.75347	0.827690693778	0.82605	0.9224044209647695	0.92217	1.63905519497	0.89343	0.760852694511	0.76055	T	0.763723	0.93620	D	0.335716	0.85547	D	0.244457	0.85358	D	0.980383813381195	0.73331	D	0.89721	0.64041	D	0.44954064	0.64011	0.39330503	0.64054	0.44954064	0.64012	0.39330503	0.64054	-11.778	0.84409	D	0.1774985195084793	0.22703	0.368	0.57701	A	.;.;.	.;.;.	4.434012	0.68789	25.3	0.99083724912128901	0.52027	0.98891	0.88239	D	AEFGI	0.936344	0.93253	D	0.216634950880202	0.52004	3.37757	0.36394720143319	0.59354	4.112337	0.999999977773112	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.75	5.75	0.90390	8.017000	0.88732	6.199000	0.54868	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.071	0.80735	901	0.24189	Ion transport domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1649.43	33	chr14	62950345	.	T	G	1649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.563;DP=479;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.742;SOR=0.781	GT:AD:DP:GQ:PL	0/1:106,69:175:99:1661,0,2995	9	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2693.57	112	chr14	64158707	.	T	C	2693.57	.	AC=8;AF=0.5;AN=16;BaseQRankSum=-2.332;DP=1280;ExcessHet=10.3881;FS=229.843;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.563;MQ=60;MQRankSum=0;QD=2.74;ReadPosRankSum=1.66;SOR=11.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,45:134:99:.:.:505,0,1713:.	0	0	8	2
chr14	64939832	64939832	A	C	exonic	GPX2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02760	T	1.0	0.02325	T	0.002	0.09854	B	0.004	0.10090	B	0.000003	0.62929	D	0.061993	1	0.81001	D	-2.225	0.00116	N	2.29	0.17113	T	-1.67	0.52128	N	0.076	0.05037	-0.9899	0.32626	T	0.011	0.04321	T	10	0.093410015	0.16528	T	.	.	.	0.108	0.30607	0.506	0.60078	0.177238962908	0.17366	.	.	0.266804787009	0.29218	0.575413405895	0.49440	T	0.03404	0.23161	T	-0.20295	0.20379	T	-0.5293	0.19356	T	0.721415519714355	0.41770	D	0.611839	0.36078	T	0.7121782	0.78727	0.5642758	0.74783	0.7121782	0.78728	0.5642758	0.74784	.	.	.	.	.	0.137	0.29914	B	.;.;.	.;.;.	2.941298	0.39111	20.9	0.77057690323910077	0.11719	0.88007	0.47751	D	AEFGBCI	0.715921	0.66792	D	-0.586439666718952	0.19355	1.01236	-0.270819686113624	0.29065	1.625419	0.999999873352268	0.74766	0.554377	0.28877	0	0.379588	0.06130	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	6.06	4.9	0.63643	4.154000	0.57902	6.988000	0.57150	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8612:0.1388:0.0:0.0	12.601	0.55849	233	0.90919	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1431.43	38	chr14	64939832	.	A	C	1431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.977;DP=419;ExcessHet=0;FS=2.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.65;SOR=1.082	GT:AD:DP:GQ:PL	0/1:42,60:102:99:1443,0,1119	9	0	1	0
chr14	68611075	68611075	C	G	exonic	RAD51B	.	nonsynonymous SNV	RAD51B:NM_001321821:exon11:c.C1106G:p.P369R	.	440	1074	8	0	0	8	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00836541883783	.	.	0.0001	0	0	0	0	0.0005	0	0	4.53e-05	7	154602	rs575962752	0.0003	0.0003	0.0004	0.0003	0.0017	0.0003	0.0003	0.0008	0.0006	0	0.0001	0.0006	0	5.925e-05	0.0017	0.0005	0.0004	3.186e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.407e-05	0	0.0003	0	0	0	0	0.0005	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.028	0.19712	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	.	.	.	0.78	0.49358	T	-0.05	0.07736	N	0.098	0.07949	-1.0007	0.29717	T	0.083	0.32556	T	8	0.02929002	0.01056	T	0.008365	0.22130	T	0.005	0.00259	.	.	0.321393169273	0.31749	0.08591457832830823	0.08525	.	.	.	.	.	0.004643	0.04050	T	-0.51428	0.00475	T	-0.624785	0.10813	T	0.0189758429385147	0.00606	T	0.315368	0.06236	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04932	B	.	.	0.923000	0.12977	9.486	0.95016532749588101	0.25995	0.02991	0.07848	N	AEFGBI	0.032532	0.03694	N	-0.919929528736979	0.10376	0.4955524	-1.04213230178231	0.08871	0.4383686	0.999902942070772	0.45458	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	2.29	0.399	0.15547	0.047000	0.13941	-0.039000	0.12693	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.6674:0.0:0.3326	4.552	0.11517	512	0.75040	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1281.43	41	chr14	68611075	.	C	G	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.518;DP=511;ExcessHet=0;FS=3.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.181;SOR=0.458	GT:AD:DP:GQ:PL	0/1:79,63:142:99:1293,0,2102	9	0	1	0
chr14	69054884	69054884	G	A	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon9:c.C1799T:p.A600V,DCAF5:NM_001284207:exon9:c.C1556T:p.A519V,DCAF5:NM_003861:exon9:c.C1802T:p.A601V	.	433	1076	12	1	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0222368397432	0.0002	0.000399361	0.0009	0	8.637e-05	0.0002	0	0.0004	0.0011	0.0047	0.0007697	119	154602	rs138177045	0.0004	0.0004	0.0003	0.0006	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	2.236e-05	0	5.038e-05	0	0.0045	0.0001	0.0006	0.0045	0.0003	0.0003	0.0002	0.0003	0.0042	0.0002	0.0002	0.0028	0.0023	9.626e-05	0	0	0	0.0002	0	0.0068	0.0002	0.0005	0.0042	0.309	0.14111	T	0.296	0.20615	T	0.0	0.02946	B	0.0	0.01387	B	0.209469	0.16400	N	0.587434	1	0.08975	N	0.345	0.11182	N	-0.27	0.67367	T	-0.55	0.16799	N	0.018	0.00527	-0.9930	0.31827	T	0.143	0.46495	T	10	0.0044243336	0.00090	T	0.022237	0.45108	T	0.125	0.34456	.	.	0.102598925029	0.09809	0.08701831296950793	0.08634	0.207032986661	0.23145	0.256115347147	0.04440	T	0.024437	0.18465	T	-0.574157	0.00209	T	-0.596697	0.13091	T	0.0150448754977393	0.00324	T	0.587941	0.21519	T	0.01599687	0.00170	0.02888056	0.01166	0.01599687	0.00170	0.02888056	0.01166	-3.322	0.14022	T	.	.	0.064	0.03552	B	.;.;.;.	.;.;.;.	0.708183	0.10771	7.457	0.95040214092727904	0.26046	0.22655	0.21819	N	AEFDGBI	0.100752	0.20251	N	-0.895888754659229	0.10939	0.5253329	-0.900138240396138	0.12090	0.6199337	0.999982996662421	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.17	1.26	0.20534	1.862000	0.39088	3.501000	0.38778	-0.103000	0.15852	0.496000	0.26925	0.997000	0.33255	0.169000	0.20946	0.2784:0.1215:0.6001:0.0	6.388	0.20777	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.003788	0.05	2200.43	39	chr14	69054884	.	G	A	2200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.792;DP=531;ExcessHet=0;FS=3.587;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.062;SOR=0.885	GT:AD:DP:GQ:PL	0/1:80,85:165:99:2212,0,2066	9	0	1	0
chr14	70962264	70962264	G	A	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon3:c.G401A:p.R134Q,PCNX1:NM_014982:exon3:c.G401A:p.R134Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0427570453889	.	.	1.648e-05	9.612e-05	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs768926819	9.581e-06	9.577e-06	6.81e-06	1.238e-05	8.117e-05	5.56e-06	4.35e-06	3.766e-05	2.662e-05	2.989e-05	0	0	5.038e-05	0	0	2.699e-06	1.657e-05	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.338	0.21078	T	0.997	0.70673	D	0.968	0.71741	D	0.002736	0.36034	N	0.181371	0.999992	0.58761	D	2.31	0.66127	M	0.14	0.60854	T	-1.32	0.32991	N	0.691	0.75466	-0.5252	0.67722	T	0.339	0.70551	T	10	0.5095879	0.62018	D	0.042757	0.60630	D	0.204	0.49076	0.199	0.11247	0.397201501934	0.39331	0.5031758484258592	0.50239	0.559778919384	0.52519	0.637775301933	0.58248	T	0.030	0.21272	T	0.0199444	0.54375	T	-0.0275998	0.68528	D	0.726006090641022	0.42004	D	0.955704	0.84657	D	0.19222574	0.40883	0.13126524	0.31524	0.19222574	0.40883	0.13126524	0.31523	-3.815	0.21029	T	.	.	0.121	0.51703	B	.;.	.;.	5.377539	0.90137	31	0.99912463565030163	0.98167	0.97072	0.72527	D	AEFBI	0.850707	0.76754	D	0.722979460909113	0.81140	7.452754	0.72772032395482	0.84482	8.304613	0.999999919952011	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	7.653000	0.82698	11.692000	0.94371	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.288	0.94074	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	991.43	37	chr14	70962264	.	G	A	991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.053;DP=429;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.868;SOR=0.566	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1003,0,1488	9	0	1	0
chr14	73573564	73573564	A	G	exonic	ACOT2	.	nonsynonymous SNV	ACOT2:NM_001364177:exon2:c.A229G:p.M77V,ACOT2:NM_001364178:exon2:c.A820G:p.M274V,ACOT2:NM_006821:exon2:c.A820G:p.M274V	.	.	.	.	.	.	.	.	.	.	.	3295686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.134	0.00889256972353	.	0.000199681	4.942e-05	0	0.0003	0	0	2.997e-05	0	6.058e-05	4.53e-05	7	154602	rs202093592	4.858e-05	5.131e-05	4.493e-05	5.226e-05	0.0006	3.927e-05	3.605e-05	0.0004	0.0003	0	0.0006	0	0.0002	0	0.0002	2.788e-05	3.312e-05	5.798e-05	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0015	0.0013	4.814e-05	0	0.0020	0	0	0	0	4.416e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001126	0.40136	N	0.244803	1	0.08975	N	-2.635	0.00039	N	1.23	0.36872	T	2.18	0.00332	N	0.122	0.11483	-0.9596	0.39255	T	0.013	0.04843	T	10	0.014870882	0.00312	T	0.008893	0.23439	T	0.134	0.36365	.	.	0.0954503805726	0.09146	0.38493260992804	0.38408	.	.	0.491653352976	0.37667	T	0.00771	0.07099	T	-0.623017	0.00105	T	-0.761612	0.03055	T	0.0233941314534448	0.01070	T	0.116288	0.00889	T	0.041737285	0.06202	0.045729097	0.06218	0.041737285	0.06201	0.045729097	0.06217	0.841	0.00154	T	.	.	0.046	0.00120	B	.;.;.	.;.;.	-0.524563	0.01789	0.138	0.61986389903431283	0.06847	0.00773	0.03184	N	AEFDGBI	0.165213	0.29169	N	-1.39940739809923	0.02644	0.1170587	-1.14413103114583	0.06874	0.3323781	0.828537770990055	0.24651	0.706298	0.61202	0	0.658105	0.61773	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.27	3.33	0.37245	0.115000	0.15373	-5.256000	0.01787	-1.400000	0.01141	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0811:0.0:0.7699:0.149	8.739	0.33706	234	0.90879	BAAT/Acyl-CoA thioester hydrolase C-terminal;BAAT/Acyl-CoA thioester hydrolase C-terminal;BAAT/Acyl-CoA thioester hydrolase C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	3332.43	33	chr14	73573564	.	A	G	3332.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.347;DP=510;ExcessHet=0;FS=2.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.59;MQRankSum=-9.564;QD=17.09;ReadPosRankSum=0.449;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,88:195:99:0|1:73573563_C_T:3344,0,4224:73573563	9	0	1	0
chr14	73922107	73922107	G	A	exonic	ZNF410	.	nonsynonymous SNV	ZNF410:NM_001242927:exon9:c.G952A:p.V318I,ZNF410:NM_001242928:exon10:c.G583A:p.V195I,ZNF410:NM_021188:exon10:c.G1171A:p.V391I,ZNF410:NM_001242924:exon11:c.G1222A:p.V408I	.	437	1073	12	0	0	12	0.0055607	.	.	.	2372504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00624117687877	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0011	0.0001876	29	154602	rs372664039	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0023	0.0019	0	0.0001	0	0	0	0.0035	0.0001	0.0004	0.0014	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0009	0.0008	0.118	0.91255	T	0.306	0.92824	T	0.643	0.40492	P	0.785	0.57495	P	0.001442	0.38980	N	0.000000	0.546559	0.81001	D	1.01	0.25309	L	3.02	0.09356	T	-0.4	0.25118	N	0.538	0.56576	-1.0215	0.23227	T	0.040	0.17063	T	10	0.03307873	0.01474	T	0.006241	0.16376	T	0.136	0.36778	.	.	0.15499578495	0.15088	0.142841941602386	0.14207	0.800589739096	0.66227	0.560118496418	0.47284	T	0.026612	0.19659	T	-0.407052	0.02080	T	-0.40303	0.33033	T	0.088879943355341	0.11084	T	0.89921	0.67274	D	0.055328384	0.10739	0.0646716	0.12995	0.055328384	0.10738	0.0646716	0.12995	-4.042	0.26185	T	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.136392	0.42404	21.5	0.952429301120164	0.26489	0.89806	0.50512	D	AEFBI	0.495532	0.53086	N	0.436454677190312	0.63439	4.577605	0.514922159546573	0.68994	5.297341	0.999996727823021	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	4.579000	0.60647	10.022000	0.83139	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.901	0.85982	359	0.84979	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	817.43	35	chr14	73922107	.	G	A	817.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.436;SOR=0.804	GT:AD:DP:GQ:PL	0/1:33,35:68:99:829,0,692	9	0	1	0
chr14	74486431	74486431	C	T	exonic	NPC2	.	nonsynonymous SNV	NPC2:NM_001363688:exon2:c.G88A:p.V30M,NPC2:NM_001375440:exon2:c.G88A:p.V30M,NPC2:NM_006432:exon2:c.G88A:p.V30M	Niemann-pick disease, type C2, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	181440	Brain_atrophy|Seizure|Global_developmental_delay|Microcephaly|not_specified|Niemann-Pick_disease,_type_C2|not_provided	Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|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|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:CN169374|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625,Orphanet:646|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.490	0.107051375347	0.0019	0.000998403	0.0031	0.0004	0.0019	0	0	0.0040	0.0078	0.0042	0.0014101	218	154602	rs151220873	0.0014	0.0014	0.0012	0.0016	0.0124	0.0013	0.0013	0.0101	0.0092	0.0005	0.0010	0.0189	0	0	0.0124	0.0007	0.0029	0.0049	0.0013	0.0013	0.0013	0.0013	0.0050	0.0012	0.0011	0.0034	0.0029	0.0003	0	0.0009	0.0193	0.0002	0	0.0136	0.0012	0.0014	0.0050	0.111	0.32929	T	0.112	0.37589	T	0.921	0.51088	P	0.667	0.53020	P	0.001644	0.00810	N	3.062020	1	0.08975	N	1.32	0.33002	L	-0.92	0.75108	T	-0.34	0.15178	N	0.694	0.69913	-0.5348	0.67360	T	0.323	0.69186	T	10	0.0055167973	0.00122	T	0.107051	0.78294	D	0.490	0.77720	.	.	0.419957187557	0.41612	0.4148785368595371	0.41403	1.05498303167	0.76294	0.248564392328	0.03618	T	0.164713	0.70663	T	-0.280629	0.10601	T	-0.17534	0.56954	T	0.0604724534897135	0.07243	T	0.768523	0.39806	T	0.15376896	0.34838	0.120965846	0.29188	0.15767485	0.35515	0.072921336	0.15786	-5.909	0.45512	T	0.34427084161464777	0.44184	0.123	0.35705	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.142092	0.15295	11.74	0.98776408867178389	0.46049	0.02808	0.07534	N	AEFGBI	0.158835	0.28454	N	-0.980824699310848	0.09013	0.4248764	-1.20699484781859	0.05797	0.2772181	0.999999670044353	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.54	-7.82	0.01069	-1.967000	0.01598	-3.068000	0.03090	-0.912000	0.02253	0.000000	0.06391	0.000000	0.08366	0.876000	0.41813	0.0857:0.1184:0.3405:0.4555	4.464	0.11100	368	0.84463	MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;.;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009635	0.005208	0.008152	0.005848	0.000000	0.017241	0.015432	0.003788	0.05	1149.43	34	chr14	74486431	.	C	T	1149.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.703;DP=389;ExcessHet=0;FS=4.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=2.62;SOR=1.255	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1161,0,927	9	0	1	0
chr14	74502767	74502767	C	T	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon34:c.G5056A:p.V1686I	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	872579	not_provided|Weill-Marchesani_syndrome|not_specified|Glaucoma_3,_primary_congenital,_D	MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MedGen:CN169374|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.0255913001877	0.0002	0.000199681	0.0002	9.619e-05	0	0	0	0.0003	0.0011	0.0001	0.0001552	24	154602	rs139734678	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	5.974e-05	0.0001	0	0	1.872e-05	0.0016	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	7.573e-05	6.279e-05	8.87e-05	5.281e-05	4.813e-05	0	0.0003	0	0	9.422e-05	0	0.0001	0.0009	0	0.592	0.06049	T	0.469	0.12281	T	0.002	0.09854	B	0.001	0.04355	B	0.519356	0.05193	N	1.408090	1	0.08975	N	-0.56	0.02328	N	-1.11	0.77593	T	-0.27	0.11366	N	0.034	0.00942	-0.9422	0.42266	T	0.201	0.55723	T	10	0.028542966	0.00985	T	0.025591	0.48551	D	0.162	0.41843	.	.	0.326881540566	0.32305	0.14446743319733152	0.14369	0.109344260133	0.12337	0.275766193867	0.06909	T	0.109626	0.42365	T	-0.485884	0.00685	T	-0.631168	0.10327	T	0.00912657298170966	0.00115	T	0.637636	0.25136	T	0.02465721	0.01319	0.026259093	0.00706	0.02465721	0.01319	0.026259093	0.00706	-4.227	0.27141	T	.	.	0.065	0.01934	B	.;.	.;.	-0.646778	0.01448	0.088	0.87912071696506044	0.17575	0.03163	0.08134	N	AEFGBCI	0.030078	0.02961	N	-1.30710650400805	0.03593	0.1607856	-1.28596354244688	0.04619	0.2183242	0.997223064420871	0.35393	0.67177	0.52595	0	0.59043	0.45803	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.9	-0.0163	0.13297	-0.570000	0.05986	-3.610000	0.02659	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0:0.3176:0.0:0.6824	9.286	0.36918	286	0.88678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1514.43	40	chr14	74502767	.	C	T	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.242;SOR=0.696	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1526,0,1464	9	0	1	0
chr14	75070632	75070632	A	T	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.A59T:p.N20I,ZC2HC1C:NM_001330191:exon2:c.A59T:p.N20I,ZC2HC1C:NM_024643:exon2:c.A59T:p.N20I	.	433	1071	18	0	0	18	0.00833333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.046831026454	8.1e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs201007492	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.813e-05	0	0	0.0006	0	0	0	5.88e-05	0	0.0050	0.001	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.939	0.67449	D	0.006301	0.32122	N	0.141524	0.523725	0.31548	N	2.175	0.60977	M	0.58	0.54149	T	-7.55	0.95188	D	0.742	0.77789	-0.2784	0.75584	T	0.289	0.66055	T	10	0.006190151	0.00139	T	0.046831	0.62643	D	0.228	0.52768	.	.	0.487348339145	0.48367	0.22904105704477512	0.22819	0.588004060284	0.54360	0.515668153763	0.41017	T	0.006414	0.05843	T	-0.289295	0.09707	T	-0.188062	0.55772	T	0.216257175862433	0.21276	T	0.763424	0.38984	T	0.32686386	0.55213	0.34871656	0.60507	0.32686386	0.55213	0.34871656	0.60507	-3.538	0.16968	T	.	.	0.288	0.52010	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.203451	0.43573	21.8	0.98696521515898128	0.44838	0.86992	0.46402	D	ALL	0.392574	0.47057	N	0.411941661535108	0.62076	4.417961	0.322720731381291	0.56878	3.851863	0.99999999999863	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	3.031000	0.49417	5.045000	0.46946	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.179000	0.21265	1.0:0.0:0.0:0.0	10.559	0.44325	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	925.43	33	chr14	75070632	.	A	T	925.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.188;DP=405;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.038;SOR=0.603	GT:AD:DP:GQ:PL	0/1:48,39:87:99:937,0,1208	9	0	1	0
chr14	75070643	75070643	G	C	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.G70C:p.A24P,ZC2HC1C:NM_001330191:exon2:c.G70C:p.A24P,ZC2HC1C:NM_024643:exon2:c.G70C:p.A24P	.	434	1070	18	0	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0148684438122	8.2e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs202071124	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.812e-05	0	0	0.0006	0	0	0	5.881e-05	0	0.0050	0.009	0.65419	D	0.04	0.57587	D	0.989	0.62824	D	0.893	0.63340	P	0.067454	0.21740	N	0.329934	0.999999	0.08975	N	2.045	0.56016	M	0.41	0.57100	T	-4.28	0.76334	D	0.477	0.57690	-0.9072	0.47191	T	0.207	0.56608	T	10	0.0027681887	0.00043	T	0.014868	0.35264	T	0.128	0.35103	.	.	0.40318662893	0.39936	0.33644218108618373	0.33557	0.559607918602	0.52497	0.327027440071	0.14486	T	0.003707	0.03111	T	-0.384259	0.02928	T	-0.324471	0.42083	T	0.127540001385723	0.15153	T	0.754325	0.37688	T	0.17973155	0.39059	0.17038666	0.39144	0.17973155	0.39059	0.17038666	0.39143	-3.372	0.15070	T	.	.	0.199	0.42170	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.758541	0.36180	20.2	0.99565120680330121	0.72014	0.14751	0.18567	N	ALL	0.186874	0.31418	N	-0.0815084460523322	0.38204	2.233989	-0.251146011460682	0.29731	1.668147	0.999999999305585	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	0.588	0.16630	0.082000	0.14697	1.568000	0.27399	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.879000	0.42020	0.3365:0.0:0.5184:0.145	4.563	0.11567	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	947.43	33	chr14	75070643	.	G	C	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=413;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.403;SOR=0.596	GT:AD:DP:GQ:PL	0/1:52,41:93:99:959,0,1300	9	0	1	0
chr14	75639372	75639372	A	C	exonic	FLVCR2	.	nonsynonymous SNV	FLVCR2:NM_001195283:exon6:c.A530C:p.Y177S,FLVCR2:NM_017791:exon6:c.A1145C:p.Y382S	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.0655320461835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.724e-06	1.376e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.925	0.51395	P	0.9	0.63913	P	0.000005	0.62929	D	0.110709	1	0.81001	D	3.02	0.86243	M	0.44	0.57880	T	-8.78	0.97928	D	0.879	0.87699	-0.0579	0.81038	T	0.431	0.77264	T	10	0.9042178	0.89786	D	0.065532	0.69607	D	0.614	0.84932	0.655	0.79276	0.838536903187	0.83699	0.8548733749249788	0.85450	1.13111999283	0.78618	0.686235845089	0.65164	T	0.377304	0.74052	T	0.349929	0.86500	D	0.264872	0.86322	D	0.998711109161377	0.94946	D	0.878912	0.59457	D	0.94599545	0.95857	0.9309133	0.97157	0.94599545	0.95858	0.9309133	0.97157	-13.828	0.92774	D	0.5344691900789156	0.60491	0.274	0.61041	B	.;.;.;.;.	.;.;.;.;.	4.600372	0.72850	25.9	0.9925862555602567	0.57121	0.98524	0.83701	D	AEFGBI	0.885466	0.81601	D	0.876122573370192	0.90542	10.45132	0.812907184461558	0.90677	10.51693	0.999999999999831	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	5.7	5.7	0.88690	9.197000	0.94121	9.157000	0.78973	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.758000	0.36073	1.0:0.0:0.0:0.0	14.939	0.70626	182	0.92924	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1316.43	35	chr14	75639372	.	A	C	1316.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.23;DP=477;ExcessHet=0;FS=2.146;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=1.9;SOR=0.931	GT:AD:DP:GQ:PL	0/1:102,53:155:99:1328,0,2472	9	0	1	0
chr14	76778959	76778961	AAG	-	exonic	VASH1	.	nonframeshift deletion	VASH1:NM_014909:exon7:c.1039_1041del:p.K348del	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	8.637e-05	0	0	2.997e-05	0	0.0026	0.0002975	46	154602	rs780375125	0.0002	0.0002	0.0001	0.0002	0.0026	0.0002	0.0002	0.0023	0.0022	0	2.236e-05	0	0	5.618e-05	0.0002	3.147e-05	0.0001	0.0026	5.907e-05	5.905e-05	2.569e-05	9.396e-05	0.0012	3.074e-05	2.208e-05	0.0005	0.0004	0	0	6.532e-05	0	0	9.42e-05	0	1.47e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	4029.39	36	chr14	76778958	.	CAAG	C	4029.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.442;DP=468;ExcessHet=0;FS=3.149;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=27.04;ReadPosRankSum=0.362;SOR=0.463	GT:AD:DP:GQ:PL	0/1:48,101:149:99:4041,0,1711	9	0	1	0
chr14	77027442	77027442	-	TGT	exonic	IRF2BPL	.	nonframeshift insertion	IRF2BPL:NM_024496:exon1:c.350_351insACA:p.Q127_L128insQ	.	608	878	24	4	8	40	0.0178971	.	.	.	2810600	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0067	0	0	0	0	0.0090	0.0098	0.0065	0.0004995	13	26028	rs778015822	0.0050	0.0051	0.0049	0.0051	0.0094	0.0048	0.0048	0.0066	0.0057	0.0016	0.0023	0.0084	0.0007	0.0014	0.0094	0.0053	0.0057	0.0055	0.0053	0.0045	0.0054	0.0052	0.0102	0.0049	0.0048	0.0074	0.0064	0.0024	0.0035	0.0065	0.0081	0.0009	0.0007	0.0165	0.0072	0.0070	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595142	0.638554	0.495781	0.628676	0.666667	0.581081	0.669231	0.521277	0.05	463.39	38	chr14	77027442	.	C	CTGT	463.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.853;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=1.54;SOR=0.446	GT:AD:DP:GQ:PL	0/1:9,13:22:99:475,0,308	9	0	1	0
chr14	77027451	77027451	T	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	467.86	24	chr14	77027451	.	T	*	467.86	.	AC=11;AF=0.611;AN=18;DP=359;ExcessHet=5.3821;FS=3.352;InbreedingCoeff=-0.3867;MLEAC=12;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.339;SOR=0.49	GT:AD:DP:GQ:PL	1/0:0,9:22:99:1048,521,475	0	2	7	1
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	983.97	138	chr14	78297852	.	G	A	983.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.136;DP=1458;ExcessHet=7.0302;FS=257.196;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.164;SOR=12.28	GT:AD:DP:GQ:PL	0/1:68,44:112:99:241,0,1012	3	0	7	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.804	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	310.75	36	chr14	87947880	.	T	G	310.75	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.474;DP=295;ExcessHet=1.8123;FS=100.949;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=2.59;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,12:40:58:.:.:58,0,523:.	4	0	4	2
chr14	88705517	88705517	T	C	exonic	EML5	.	nonsynonymous SNV	EML5:NM_001385116:exon12:c.A1897G:p.I633V,EML5:NM_001385117:exon12:c.A1897G:p.I633V,EML5:NM_183387:exon12:c.A1897G:p.I633V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	.	0.00199681	0.0026	0	0.0002	0.0308	0	0	0.002	0	0.0011902	184	154602	rs144622692	0.0006	0.0006	0.0007	0.0005	0.0197	0.0006	0.0005	0.0186	0.0181	8.998e-05	6.87e-05	0	0.0197	0	0	2.71e-06	0.0011	1.187e-05	0.0006	0.0006	0.0006	0.0006	0.0156	0.0005	0.0005	0.0129	0.0119	0.0002	0	0	0	0.0156	0	0	0	0.0019	0	0.374	0.11732	T	0.282	0.21612	T	0.991	0.64070	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999586	0.47691	D	1.995	0.54099	M	1.09	0.39223	T	-0.63	0.18459	N	0.551	0.57690	-0.9144	0.46298	T	0.156	0.48807	T	10	0.008575171	0.00194	T	.	.	.	0.141	0.37795	.	.	0.412328234245	0.40847	.	.	0.260233757708	0.28594	0.696681857109	0.66665	T	0.010236	0.09261	T	-0.404077	0.02176	T	-0.338269	0.40541	T	0.0717291080092681	0.08892	T	0.918608	0.70760	D	0.12653561	0.29634	0.14034183	0.33457	0.12653561	0.29634	0.14034183	0.33456	-3.55	0.17713	T	.	.	0.211	0.43842	B	.;.	.;.	3.395046	0.47027	22.4	0.99155383822894916	0.53931	0.98809	0.87136	D	AEFI	0.913456	0.87546	D	0.545061361043724	0.69781	5.406117	0.570326553894455	0.72822	5.870839	0.9999965620552	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	7.674000	0.83146	5.141000	0.47710	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.348	0.74077	812	0.42537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	1180.43	35	chr14	88705517	.	T	C	1180.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.44;DP=395;ExcessHet=0;FS=5.538;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-2.542;SOR=0.972	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1192,0,935	9	0	1	0
chr14	94448330	94448330	G	A	exonic	SERPINA11	.	nonsynonymous SNV	SERPINA11:NM_001080451:exon2:c.C445T:p.P149S	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.0571845778194	0.0028	0.000599042	0.0022	0.0004	0.0025	0	0.0006	0.0034	0.0011	0.0004	0.0022121	342	154602	rs61738925	0.0029	0.0029	0.0030	0.0027	0.0033	0.0028	0.0028	0.0032	0.0032	0.0006	0.0032	0.0028	0	0.0005	0.0016	0.0033	0.0038	0.0003	0.0025	0.0025	0.0023	0.0028	0.0048	0.0023	0.0022	0.0039	0.0036	0.0007	0	0.0048	0.0040	0	0.0004	0	0.0037	0.0038	0.0004	0.006	0.61437	D	0.024	0.56640	D	0.295	0.32424	B	0.179	0.35808	B	0.000256	0.46924	D	0.092528	0.870577	0.35555	D	2.37	0.68279	M	-1.8	0.83893	D	-2.21	0.49684	N	0.427	0.46649	0.266	0.86999	D	0.550	0.83503	D	10	0.014007002	0.00295	T	0.057185	0.66874	D	0.533	0.80367	.	.	0.730538620245	0.72814	0.38509404776505335	0.38424	0.317205355367	0.33965	0.353736400604	0.18471	T	0.339486	0.70862	T	-0.249648	0.14140	T	-0.132217	0.60785	T	0.0277473004377803	0.01651	T	0.670133	0.27879	T	0.3237854	0.54958	0.38823158	0.63672	0.3237854	0.54958	0.38823158	0.63672	-10.395	0.76242	D	.	.	0.326	0.54918	B	.	.	3.211850	0.43726	21.8	0.99899416708535194	0.97124	0.78989	0.39059	D	AEFDBI	0.676660	0.64163	D	0.0888398172282625	0.45943	2.842489	0.121228589835616	0.45636	2.823309	0.999998580860093	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	2.492000	0.44970	7.125000	0.57606	0.676000	0.76740	0.942000	0.32722	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.8514:0.1486	14.338	0.66168	895	0.25842	Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1336.43	41	chr14	94448330	.	G	A	1336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.075;DP=493;ExcessHet=0;FS=1.539;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.751;SOR=0.87	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1348,0,1536	9	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4095.04	116	chr14	94497802	.	C	T	4095.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.987;DP=1206;ExcessHet=22.563;FS=233.998;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.204;SOR=12.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,53:116:99:.:.:638,0,1014:.	0	0	10	0
chr14	96317153	96317153	C	T	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon20:c.G3202A:p.D1068N	.	470	1051	1	0	0	1	0.000475511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00418182233635	.	.	8.325e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs773665317	1.372e-06	1.368e-06	1.365e-06	1.379e-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	6.569e-06	6.566e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.21	0.19639	T	0.327	0.18732	T	0.001	0.07471	B	0.002	0.06944	B	0.058661	0.22384	U	0.410909	0.999	0.45657	D	0.915	0.23335	L	0.86	0.46777	T	-0.89	0.24026	N	0.168	0.17828	-1.0450	0.15825	T	0.124	0.42799	T	10	0.18644246	0.34109	T	0.004182	0.10058	T	0.141	0.37795	0.503	0.59615	0.61771375628	0.61462	0.2806587638739385	0.27978	0.679272497559	0.59930	0.468505144119	0.34474	T	0.003019	0.02422	T	-0.308757	0.07858	T	-0.681285	0.06906	T	0.62472403049469	0.37400	D	0.857114	0.54640	D	0.11165262	0.26382	0.101430275	0.24282	0.11165262	0.26382	0.101430275	0.24281	-7.92	0.60524	D	.	.	0.082	0.08754	B	.	.	3.428641	0.47640	22.5	0.99700880256478963	0.80591	0.91381	0.53419	D	AEFBI	0.305021	0.41255	N	0.0216860248727218	0.42842	2.589004	0.222983331954156	0.51124	3.297804	0.999999017538687	0.74766	0.562547	0.31514	0	0.601575	0.49859	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	4.140000	0.57795	7.717000	0.67122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.122	0.97967	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	623.43	40	chr14	96317153	.	C	T	623.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.711;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.201;SOR=0.797	GT:AD:DP:GQ:PL	0/1:34,26:60:99:635,0,772	9	0	1	0
chr14	99458488	99458488	C	T	exonic	SETD3	.	nonsynonymous SNV	SETD3:NM_032233:exon6:c.G466A:p.A156T,SETD3:NM_199123:exon6:c.G466A:p.A156T	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00543674913488	.	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs745547818	2.052e-05	2.052e-05	1.225e-05	2.888e-05	0.0014	1.456e-05	1.264e-05	0.0007	0.0005	0	0	0	0	0	0.0014	8.093e-06	3.311e-05	0.0001	1.314e-05	1.313e-05	2.572e-05	0	2.409e-05	2.18e-06	8.2e-07	.	.	2.409e-05	0	0	0	0	0	0	1.47e-05	0	0	0.814	0.04328	T	1.0	0.05128	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	N	0.053335	0.990497	0.41171	D	0.435	0.12660	N	2.57	0.13552	T	-0.04	0.13418	N	0.423	0.46835	-0.9895	0.32727	T	0.018	0.07329	T	10	0.16297382	0.30529	T	0.005437	0.13984	T	0.081	0.23632	0.601	0.73226	0.233785782151	0.22967	0.20279376832046783	0.20196	0.358468695474	0.37561	0.435408115387	0.29949	T	0.033838	0.23080	T	-0.370099	0.03588	T	-0.58787	0.13850	T	0.100845389068127	0.12449	T	0.858514	0.56452	D	0.16963698	0.37491	0.106078304	0.25511	0.16963698	0.37491	0.106078304	0.25511	-1.977	0.05962	T	.	.	0.065	0.05979	B	.;.;.	.;.;.	1.801389	0.22893	15.80	0.25510107448965796	0.01179	0.53276	0.29332	D	AEFBI	0.078740	0.15893	N	-0.55026294065675	0.20476	1.079648	-0.407547284250012	0.24776	1.358626	0.999672722657413	0.41644	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.37	3.25	0.36363	2.638000	0.46228	3.439000	0.38368	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.1517:0.0:0.8483	7.141	0.24735	987	0.02648	SET domain|SET domain;.;SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	575.43	34	chr14	99458488	.	C	T	575.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=1.56;SOR=0.598	GT:AD:DP:GQ:PL	0/1:42,24:66:99:587,0,1047	9	0	1	0
chr14	100881887	100881887	C	T	exonic	RTL1	.	nonsynonymous SNV	RTL1:NM_001134888:exon4:c.G2902A:p.G968R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0165229697068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	.	.	.	.	.	.	0.003440	0.34958	N	0.000000	0.776714	0.29378	N	2.095	0.58118	M	1.04	0.40218	T	-1.81	0.42575	N	0.773	0.77039	-1.0681	0.09836	T	0.062	0.25672	T	10	0.4107747	0.56209	T	0.016523	0.37815	T	0.206	0.49396	0.588	0.71623	0.42886291518	0.42503	0.7769279840723113	0.77642	1.72699174565	0.90668	0.634285926819	0.57753	T	0.091696	0.38850	T	-0.00586839	0.50843	T	-0.246206	0.50191	T	0.913565218448639	0.56988	D	0.668433	0.27736	T	0.11301887	0.26695	0.1802549	0.40814	0.11301887	0.26695	0.1802549	0.40813	-3.142	0.11785	T	.	.	0.889	0.82761	P	.;.	.;.	4.685857	0.75034	26.3	0.99909758860145725	0.97949	0.55066	0.29771	D	AEFDBI	0.281527	0.39508	N	0.117483747959841	0.47279	2.95581	0.15039616926967	0.47162	2.950687	0.258787706806839	0.18766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.39	3.39	0.37919	1.440000	0.34634	6.859000	0.56758	0.599000	0.40250	0.044000	0.21163	1.000000	0.68203	0.982000	0.59238	0.0:0.8747:0.0:0.1253	6.746	0.22650	842	0.36989	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1815.43	37	chr14	100881887	.	C	T	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.04;DP=611;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=2.38;SOR=0.742	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1827,0,1936	9	0	1	0
chr14	103560308	103560308	A	T	exonic	BAG5	.	nonsynonymous SNV	BAG5:NM_001015048:exon2:c.T857A:p.M286K,BAG5:NM_001015049:exon2:c.T980A:p.M327K,BAG5:NM_004873:exon2:c.T857A:p.M286K	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.051361417751	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.94e-05	3	154602	rs746911735	1.437e-05	1.436e-05	8.167e-06	2.063e-05	0.0002	9.23e-06	7.84e-06	8.885e-05	7.053e-05	0	0	0	0	0	0.0002	4.496e-06	3.311e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.65419	D	0.077	0.43344	T	0.273	0.39027	B	0.099	0.34953	B	0.009483	0.30337	N	0.372679	0.970817	0.38825	D	1.04	0.26193	L	-2.35	0.88066	D	-0.54	0.16598	N	0.591	0.79022	-0.1605	0.78658	T	0.408	0.75748	T	10	0.67923856	0.71179	D	0.051361	0.64631	D	0.515	0.79279	0.711	0.84691	0.916978880456	0.91614	0.7852979086508344	0.78480	0.444914128697	0.44388	0.68313062191	0.64717	T	0.400012	0.75770	T	-0.0704427	0.41256	T	-0.0646628	0.66005	T	0.167654608919238	0.18419	T	0.668433	0.27736	T	0.503176	0.67281	0.31191763	0.57196	0.503176	0.67282	0.31191763	0.57196	-7.896	0.60359	D	.	.	0.251	0.59471	B	.;.;.	.;.;.	3.173633	0.43051	21.7	0.95147617487455671	0.26277	0.98786	0.86836	D	AEFBI	0.523416	0.54703	D	0.0410729667422466	0.43733	2.66049	0.204447115440725	0.50094	3.205069	0.999996736205082	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.65	4.52	0.54797	4.892000	0.62883	4.126000	0.42002	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8534:0.0:0.1466:0.0	8.371	0.31578	835	0.38313	BAG domain|BAG domain|BAG domain;BAG domain|BAG domain|BAG domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1917.43	39	chr14	103560308	.	A	T	1917.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.64;DP=489;ExcessHet=0;FS=1.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.005;SOR=0.642	GT:AD:DP:GQ:PL	0/1:94,73:167:99:1929,0,2511	9	0	1	0
chr14	104946094	104946094	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G9057C:p.K3019N,AHNAK2:NM_138420:exon7:c.G9357C:p.K3119N	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00530819499733	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903336623	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.374	0.16280	T	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	1	0.08975	N	2.15	0.60148	M	5.8	0.00668	T	-0.73	0.20576	N	0.192	0.21056	-0.9007	0.47920	T	0.007	0.02360	T	9	0.1773707	0.32769	T	0.005308	0.13587	T	0.040	0.10527	0.367	0.37524	0.0551355673512	0.04727	0.009229774199377533	0.00885	.	.	0.277151852846	0.07099	T	0.026494	0.19595	T	-0.318655	0.07007	T	-0.695502	0.06074	T	0.216874802421256	0.21307	T	0.273673	0.04648	T	0.029278494	0.02396	0.031659894	0.01787	0.029278494	0.02395	0.031659894	0.01787	-8.868	0.66843	D	.	.	0.378	0.58281	A	.	.	1.981403	0.25168	16.67	0.9471562634121099	0.25381	0.04383	0.09962	N	AEFBI	.	.	.	-0.391786838107553	0.25760	1.400824	-0.661009226618727	0.17940	0.9561249	1.34916305957785E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.45	0.194	0.14424	0.156000	0.16200	-20.000000	0.00162	0.444000	0.21144	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1728:0.5357:0.0:0.2914	3.651	0.07740	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	6541.43	82	chr14	104946094	.	C	G	6541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=1710;ExcessHet=0;FS=8.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.79;MQRankSum=5.51;QD=17.08;ReadPosRankSum=-4.484;SOR=1.094	GT:AD:DP:GQ:PL	0/1:132,251:383:99:6553,0,2813	9	0	1	0
chr14	104952977	104952977	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A2174C:p.E725A,AHNAK2:NM_138420:exon7:c.A2474C:p.E825A	.	427	1073	22	0	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00418181783463	.	.	0.0006	0.0002	0.0003	0.0002	0.0003	0.0008	0	0.0004	0.0004995	13	26028	rs557538603	0.0004	0.0012	0.0004	0.0005	0.0007	0.0004	0.0004	0.0005	0.0005	0.0006	0.0003	0.0003	0.0007	0.0002	0.0005	0.0005	0.0006	0.0002	0.0007	0.0014	0.0007	0.0006	0.0016	0.0005	0.0005	0.0008	0.0006	0.0006	0	0.0009	0	0.0016	0.0008	0.0034	0.0006	0.0014	0	0.388	0.10909	T	0.204	0.27235	T	0.004	0.12183	B	0.013	0.16460	B	.	.	.	.	1	0.20333	N	-0.55	0.02420	N	5.52	0.00903	T	-2.08	0.47514	N	0.034	0.00942	-0.9092	0.46952	T	0.003	0.00864	T	9	0.017416984	0.00372	T	0.004182	0.10058	T	0.011	0.01250	.	.	0.0138822411134	0.00435	0.020818251181630498	0.02034	.	.	0.221759021282	0.01414	T	0.01821	0.14721	T	-0.629668	0.00096	T	-0.775808	0.02583	T	0.0104382835114017	0.00144	T	0.343566	0.07491	T	0.033807296	0.03675	0.024376506	0.00457	0.033807296	0.03674	0.024376506	0.00457	-6.103	0.47133	T	.	.	0.091	0.12891	B	.	.	1.375127	0.17855	13.41	0.23827161102435712	0.01025	0.08032	0.14009	N	AEFBI	.	.	.	-1.01025711629951	0.08390	0.3932286	-1.06694074484801	0.08357	0.4105809	1.02282480529333E-4	0.05123	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.46	0.948	0.18685	0.943000	0.28628	-0.541000	0.08582	-0.800000	0.03169	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.2703:0.2037:0.526	3.509	0.07259	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001603	0.000000	0.001359	0.000000	0.000000	0.000000	0.003145	0.003846	0.05	295.43	85	chr14	104952977	.	T	G	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.786;DP=1781;ExcessHet=0;FS=2.196;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.14;MQRankSum=-22.67;QD=0.47;ReadPosRankSum=1.41;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:580,54:634:99:0|1:104952961_G_A:307,0,23618:104952961	9	0	1	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.1	6144.14	85	chr14	104953797	.	C	T	6144.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.446;DP=1204;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.143;SOR=0.685	GT:AD:DP:GQ:PL	0/1:109,125:234:99:3199,0,2796	8	0	2	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	330.53	38	chr15	20534613	.	C	*	330.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.318;DP=776;ExcessHet=7.0302;FS=3.819;InbreedingCoeff=-0.538;MLEAC=4;MLEAF=0.2;MQ=53.59;MQRankSum=0.13;QD=0.56;ReadPosRankSum=1.28;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,16:36:99:.:.:531,0,738:.	6	0	4	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	492.44	26	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	492.44	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.2;DP=732;ExcessHet=4.5998;FS=5.412;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=51.5;MQRankSum=2.32;QD=1.26;ReadPosRankSum=0.05;SOR=0.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,16:36:99:.:.:531,0,738:.	6	0	4	0
chr15	20534636	20534636	C	0	exonic	GOLGA6L6	.	.	.	.	491	642	369	8	12	397	0.230677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	140.44	26	chr15	20534636	.	C	*	140.44	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.554;DP=697;ExcessHet=7.0302;FS=2.644;InbreedingCoeff=-0.5385;MLEAC=6;MLEAF=0.3;MQ=52.8;MQRankSum=1.45;QD=0.34;ReadPosRankSum=-2.568;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,16:36:99:.:.:531,0,738:.	4	0	6	0
chr15	20866179	20866179	A	G	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon1:c.T103C:p.C35R,POTEB:NM_001277304:exon1:c.T103C:p.C35R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00444021853576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226541084	0.0017	0.0020	0.0018	0.0016	0.0027	0.0016	0.0016	0.0023	0.0022	0.0007	0.0008	0.0008	0	0.0006	0.0027	0.0025	0.0018	0.0004	0.0015	0.0008	0.0018	0.0011	0.0013	0.0004	0.0002	.	.	0	0	0	0	0	0.0069	0	0.0013	0	0	0.0	0.91255	D	0.047	0.48855	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.485	0.72352	M	1.39	0.33842	T	-1.7	0.40468	N	0.266	0.30118	.	.	.	.	.	.	.	0.020167887	0.00461	T	0.00444	0.10875	T	.	.	.	.	0.0675242888579	0.06100	0.008528429185195708	0.00816	2.79487049805	0.98869	0.51689273119	0.41189	T	0.013947	0.11965	T	-0.114487	0.34028	T	-0.402229	0.33126	T	.	.	.	0.542646	0.18460	T	0.18166505	0.39349	0.2775771	0.53712	0.18166505	0.39348	0.2775771	0.53711	-8.718	0.65863	D	.	.	0.156	0.34449	B	.	.	1.577849	0.20196	14.63	0.96234075534474162	0.29129	0.00178	0.01045	N	AEFI	0.038682	0.05509	N	.	.	.	.	.	.	1.25753755028051E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.462	0.462	0.15906	-0.393000	0.07366	0.188000	0.15711	0.262000	0.18416	0.025000	0.20085	0.001000	0.17328	0.115000	0.18958	.	.	.	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	.	.	.	.	.	.	.	.	0.1	32.43	2	chr15	20866179	.	A	G	32.43	.	AC=2;AF=0.1;AN=20;DP=25;ExcessHet=0;FS=0;InbreedingCoeff=0.2795;MLEAC=1;MLEAF=0.05;MQ=27;QD=32.43;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,1:1:3:1|1:20866135_A_G:45,3,0:20866135	9	1	0	0
chr15	21439909	21439909	A	G	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon1:c.T103C:p.C35R	.	408	1109	4	0	1	5	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00265986708043	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200301581	0.0017	0.0040	0.0018	0.0017	0.0021	0.0017	0.0017	0.0021	0.0020	0.0005	0.0006	0.0003	0	0.0003	0.0005	0.0021	0.0016	0.0001	0.0014	0.0028	0.0014	0.0013	0.0025	0.0012	0.0012	0.0022	0.0021	0.0006	0	0.0005	0.0006	0	0.0002	0	0.0025	0.0005	0.0006	.	.	.	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.055375606	0.06041	T	0.00266	0.05434	T	.	.	.	.	0.394384168047	0.39052	0.0025569505950092174	0.00237	.	.	0.529879927635	0.43018	T	0.032381	0.22461	T	-0.117157	0.33589	T	-0.406064	0.32680	T	.	.	.	0.50225	0.15758	T	0.18166505	0.39349	0.2775771	0.53712	0.18166505	0.39348	0.2775771	0.53711	-9.641	0.71734	D	.	.	0.117	0.23605	B	.	.	1.066504	0.14488	11.06	0.95980307381909613	0.28357	0.00158	0.00946	N	AEFI	0.038682	0.05509	N	.	.	.	.	.	.	1.25753755028051E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.462	0.462	0.15906	-0.112000	0.10762	-0.078000	0.12213	0.256000	0.18359	0.007000	0.17678	0.000000	0.08366	0.054000	0.15518	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	536.43	42	chr15	21439909	.	A	G	536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.906;DP=1857;ExcessHet=0;FS=4.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.41;MQRankSum=-9.827;QD=0.84;ReadPosRankSum=2.87;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:583,59:642:99:0|1:21439885_T_C:548,0,22835:21439885	9	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.95	18756.2	63	chr15	22081297	.	T	C	18756.2	.	AC=19;AF=0.95;AN=20;BaseQRankSum=7.91;DP=859;ExcessHet=0;FS=81.645;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=36.89;MQRankSum=-2.175;QD=23.98;ReadPosRankSum=1.65;SOR=5.13	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2230,204,0	0	9	1	0
chr15	22609475	22609475	G	T	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon14:c.C1230A:p.N410K	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs530817654	0.0017	0.0018	0.0016	0.0018	0.0043	0.0016	0.0016	0.0031	0.0030	0.0015	0.0017	0.0033	0.0010	0.0018	0.0043	0.0015	0.0016	0.0034	0.0017	0.0018	0.0017	0.0017	0.0029	0.0015	0.0014	0.0018	0.0016	0.0011	0	0.0016	0.0029	0.0014	0.0013	0	0.0020	0.0029	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	669.43	35	chr15	22609475	.	G	T	669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.465;DP=375;ExcessHet=0;FS=1.047;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.48;MQRankSum=-2.637;QD=12.63;ReadPosRankSum=-1.007;SOR=0.774	GT:AD:DP:GQ:PL	0/1:25,28:53:99:681,0,638	9	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14334.1	129	chr15	23440492	.	C	*	14334.1	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.467;DP=1215;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=58.42;MQRankSum=-0.924;QD=12.2;ReadPosRankSum=0.063;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,72:131:99:.:.:4865,2019,2337:.	0	0	10	0
chr15	23440587	23440587	C	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.G1888A:p.G630R	.	377	1139	6	0	0	6	0.00262697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00273111869499	.	0.00139776	0.0051	0.0020	0.0036	0	0	0.0009	0	0.0097	0.0006145	95	154602	rs372129004	0.0007	0.0007	0.0005	0.0009	0.0076	0.0007	0.0006	0.0071	0.0069	0.0001	0.0014	0.0006	2.95e-05	0	0.0023	0.0002	0.0007	0.0076	0.0003	0.0004	0.0002	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	0	0	0.0004	0.0012	0	0	0	0.0002	0	0.0046	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	1.69	0.00584	N	0.131	0.12627	.	.	.	.	.	.	.	0.0051416755	0.00112	T	0.002731	0.05637	T	.	.	.	.	0.188950314367	0.18478	0.013426868770001222	0.01300	0.0140065937379	0.01334	.	.	.	.	.	.	-0.375741	0.03313	T	-0.777502	0.02529	T	.	.	.	0.568443	0.20183	T	0.0704227	0.15511	0.19674455	0.43420	0.0704227	0.15511	0.19674455	0.43419	-5.287	0.39814	T	.	.	0.194	0.41526	B	.	.	1.518879	0.19502	14.30	0.83715655333144168	0.14879	0.00610	0.02709	N	AEFDBI	0.036510	0.04877	N	.	.	.	.	.	.	1.33875082419496E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-2.430000	0.01101	-1.440000	0.05434	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	720.43	125	chr15	23440587	.	C	T	720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.046;DP=1136;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=0.567;QD=4.8;ReadPosRankSum=1.04;SOR=0.667	GT:AD:DP:GQ:PL	0/1:115,35:150:99:732,0,4250	9	0	1	0
chr15	25683369	25683369	C	T	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon17:c.G3409A:p.V1137M	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.157484454338	.	.	6.617e-05	0	0	0	0	1.504e-05	0.0022	0.0003	6.47e-05	10	154602	rs746399632	4.446e-05	4.446e-05	2.995e-05	5.913e-05	0.0004	3.575e-05	3.257e-05	0.0003	0.0003	2.987e-05	0	0	0	0	0	2.428e-05	3.311e-05	0.0004	2.628e-05	2.625e-05	0	5.375e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.094	0.31383	T	0.126	0.35205	T	0.947	0.53479	P	0.277	0.40197	B	0.000020	0.62929	D	0.113555	0.972249	0.38931	D	2.18	0.61292	M	-2.46	0.88924	D	-1.7	0.40468	N	0.5	0.53269	-0.0890	0.80350	T	0.478	0.80037	T	10	0.24769068	0.42053	T	0.157484	0.83806	D	0.375	0.69358	0.555	0.67271	0.677874916926	0.67514	0.3913154017755766	0.39046	0.170557378409	0.19226	0.604530036449	0.53544	T	0.03518	0.23617	T	-0.170563	0.25148	T	-0.166623	0.57751	T	0.139910817146301	0.16268	T	0.90161	0.65783	D	0.11372434	0.26855	0.13047074	0.31348	0.11372434	0.26855	0.13047074	0.31347	-9.138	0.68581	D	.	.	0.286	0.51815	B	.	.	3.360874	0.46396	22.3	0.99865339757555305	0.94366	0.50034	0.28570	D	AEFBI	0.115653	0.22730	N	0.161523543608741	0.49359	3.137179	0.165776847945882	0.47984	3.020606	0.999992258471322	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.81	3.67	0.41236	1.269000	0.32677	4.634000	0.44128	0.599000	0.40250	0.797000	0.29682	1.000000	0.68203	0.617000	0.31819	0.0:0.6856:0.0:0.3144	5.653	0.16905	663	0.61610	P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2433.43	34	chr15	25683369	.	C	T	2433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=485;ExcessHet=0;FS=1.866;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.934;SOR=0.802	GT:AD:DP:GQ:PL	0/1:79,96:175:99:2445,0,1741	9	0	1	0
chr15	32730793	32730793	C	G	exonic	GREM1	.	nonsynonymous SNV	GREM1:NM_001191323:exon2:c.C103G:p.P35A,GREM1:NM_001368719:exon2:c.C103G:p.P35A,GREM1:NM_013372:exon2:c.C103G:p.P35A	.	408	1102	12	0	0	12	0.00541516	.	.	.	265636	not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Familial_colorectal_cancer	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0023113,MedGen:CN280943	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	0.00499047751017	0.0026	0.00179712	0.0031	0.0012	0.0014	0	0.0002	0.0036	0.0034	0.0059	0.0031112	481	154602	rs111262341	0.0045	0.0045	0.0044	0.0045	0.0051	0.0044	0.0043	0.0050	0.0050	0.0004	0.0013	0.0010	0	0.0005	0.0049	0.0051	0.0038	0.0050	0.0026	0.0026	0.0027	0.0025	0.0045	0.0024	0.0023	0.0041	0.0039	0.0008	0	0.0023	0.0014	0	0.0002	0	0.0045	0.0019	0.0031	0.0	0.91255	D	0.265	0.92824	T	0.07	0.23866	B	0.015	0.17295	B	0.000000	0.84330	D	0.052048	0.999955	0.54805	D	2.19	0.61577	M	1.54	0.30133	T	-8.0	0.96495	D	0.267	0.79792	-1.1058	0.03457	T	0.056	0.23639	T	10	0.008786708	0.00215	T	0.00499	0.12598	T	.	.	.	.	0.495690748178	0.49203	0.32391209585146763	0.32304	.	.	0.609098255634	0.54187	T	0.375545	0.73912	T	-0.471277	0.00834	T	-0.448504	0.27861	T	0.0900915715714855	0.11229	T	.	.	.	0.107054636	0.25313	0.18055955	0.40863	0.108345784	0.25616	0.2241801	0.47321	-3.119	0.14642	T	.	.	0.151	0.33435	B	.;.;.	.;.;.	2.703579	0.35325	19.87	0.97190361068678544	0.32762	0.94500	0.61366	D	ALL	0.774919	0.70849	D	0.0884072060178403	0.45922	2.840788	0.257792549317994	0.53093	3.480138	1.0	0.98316	0.59774	0.34471	0	0.59043	0.45803	0	0.607795	0.38427	0	0.63947	0.58350	0	.	.	5.25	5.25	0.73169	6.163000	0.71702	6.022000	0.52807	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:1.0:0.0:0.0	19.047	0.93008	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.002717	0.000000	0.000000	0.008621	0.009146	0.003788	0.05	848.43	33	chr15	32730793	.	C	G	848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.407;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.557;SOR=0.715	GT:AD:DP:GQ:PL	0/1:48,38:86:99:860,0,1228	9	0	1	0
chr15	40336656	40336656	C	T	exonic	CCDC9B	.	nonsynonymous SNV	CCDC9B:NM_207380:exon9:c.G937A:p.G313R	.	423	1076	22	1	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0040	0.00259585	0.0055	0.0009	0.0031	0	0.0036	0.0072	0.0078	0.0065	0.0048512	750	154602	rs138396559	0.0050	0.0050	0.0049	0.0052	0.0109	0.0049	0.0049	0.0087	0.0079	0.0007	0.0033	0.0070	2.525e-05	0.0050	0.0109	0.0052	0.0050	0.0069	0.0047	0.0047	0.0047	0.0048	0.0062	0.0045	0.0043	0.0057	0.0056	0.0008	0.1195	0.0025	0.0049	0.0004	0.0052	0.0171	0.0062	0.0047	0.0062	0.004	0.65419	D	0.19	0.30143	T	1.0	0.90584	D	0.975	0.76457	D	0.000046	0.53742	D	0.070468	0.999776	0.48980	D	.	.	.	0.94	0.43672	T	-1.05	0.27463	N	0.29	0.32812	-0.7712	0.56792	T	0.181	0.52874	T	10	0.0044273436	0.00090	T	.	.	.	0.166	0.42578	0.382	0.39970	0.631501200734	0.62848	0.02736409207721265	0.02686	0.205483677471	0.22968	.	.	.	0.061483	0.31665	T	-0.310046	0.07744	T	-0.213009	0.53408	T	0.0236911876822868	0.01107	T	0.667933	0.27701	T	0.17114995	0.37732	0.17830785	0.40492	0.17114995	0.37732	0.17830785	0.40491	-3.251	0.14576	T	.	.	0.112	0.22098	B	.;.	.;.	3.063537	0.41155	21.3	0.99917179155492786	0.98518	0.80892	0.40416	D	AEFDBCI	0.390199	0.46912	N	0.520420012081599	0.68298	5.198035	0.470236461988605	0.66026	4.89887	0.999999998419457	0.74766	0.562547	0.31514	0	0.61073	0.52368	0	0.491614	0.08109	1	0.635551	0.53088	0	.	.	5.52	5.52	0.82153	1.805000	0.38520	2.186000	0.31169	-0.176000	0.10722	0.110000	0.22992	0.868000	0.27561	0.097000	0.18139	0.0:1.0:0.0:0.0	14.947	0.70688	704	0.57414	.;.	.	.	.	.	chr15:40628857	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.005051	0.013587	0.008772	0.050000	0.017241	0.009146	0.018939	0.05	1222.43	34	chr15	40336656	.	C	T	1222.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.153;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.506;SOR=0.648	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1234,0,875	9	0	1	0
chr15	42665789	42665789	A	T	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon15:c.A1258T:p.N420Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0769554332333	.	.	5.707e-05	0	0.0033	0	0	0	0	0	6.5e-06	1	154602	rs768029936	2.166e-06	2.052e-06	0	4.39e-06	0.0002	5.8e-07	1.6e-07	4.19e-06	1.57e-06	0	0	0	0	0	0.0002	0	0	2.524e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994628	0.23478	N	2.215	0.62545	M	-0.24	0.66834	T	-3.48	0.67941	D	0.362	0.40364	-0.7021	0.60338	T	0.295	0.66669	T	7	0.057678103	0.06661	T	0.076955	0.72654	D	0.256	0.56694	0.433	0.48336	0.521970134296	0.51842	0.20311975624828327	0.20228	.	.	0.507926106453	0.39932	T	0.175862	0.52560	T	-0.0616613	0.42647	T	-0.19857	0.54781	T	0.733546766090785	0.42394	D	0.682032	0.29067	T	0.29605818	0.52549	0.2773284	0.53684	0.29605818	0.52549	0.2773284	0.53683	-6.444	0.49852	T	.	.	0.186	0.40279	B	.	.	2.957369	0.39377	20.9	0.97750694092122392	0.35745	0.98281	0.81223	D	AEFBI	0.515089	0.54219	D	0.15164105728818	0.48891	3.095732	0.169183970708525	0.48168	3.036371	0.957452437584965	0.28305	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.8	4.66	0.57857	5.047000	0.64042	7.988000	0.76101	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.432000	0.27494	0.9203:0.0:0.0797:0.0	10.385	0.43319	92	0.96160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	617.43	34	chr15	42665789	.	A	T	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.114;DP=385;ExcessHet=0;FS=1.932;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-0.575;SOR=0.483	GT:AD:DP:GQ:PL	0/1:48,30:78:99:629,0,1224	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	337.46	33	chr15	43021291	.	A	G	337.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.992;DP=879;ExcessHet=0.7463;FS=129.905;InbreedingCoeff=-0.177;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.541;SOR=10.272	GT:AD:DP:GQ:PL	0/1:102,34:136:99:108,0,1809	7	0	3	0
chr15	51400402	51400402	G	A	exonic	GLDN	.	nonsynonymous SNV	GLDN:NM_001330297:exon8:c.G559A:p.V187M,GLDN:NM_181789:exon8:c.G931A:p.V311M	Lethal congenital contracture syndrome 11, Autosomal recessive	435	1083	4	0	0	4	0.00184332	.	.	.	537244	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.134	0.0883128101623	.	0.000199681	0.0001	0	0	0	0	2.997e-05	0	0.0008	0.00011	17	154602	rs199785314	6.635e-05	6.635e-05	3.948e-05	9.351e-05	0.0012	5.562e-05	5.152e-05	0.0006	0.0004	0	2.236e-05	0	0	0	0.0012	1.978e-05	0.0003	0.0006	5.91e-05	5.906e-05	5.14e-05	6.715e-05	0.0006	3.076e-05	2.209e-05	0.0002	9.003e-05	0	0	0.0002	0	0	0	0	4.41e-05	0	0.0006	0.165	0.24183	T	0.139	0.33666	T	0.074	0.24142	B	0.033	0.22329	B	0.574274	0.05497	N	1.313460	1	0.08975	N	1.07	0.27075	L	-2.51	0.89293	D	-1.19	0.30346	N	0.188	0.21319	-0.5980	0.64899	T	0.494	0.80820	T	10	0.030881584	0.01218	T	0.088313	0.75108	D	0.134	0.36365	.	.	0.565391359567	0.56202	0.31706030388321416	0.31619	0.123648921173	0.13916	0.227047979832	0.01757	T	0.485411	0.81232	T	-0.42663	0.01554	T	-0.479515	0.24498	T	0.0288728922605515	0.01818	T	0.649135	0.25986	T	0.1517652	0.34485	0.095918335	0.22769	0.1517652	0.34484	0.095918335	0.22768	-7.011	0.54114	T	.	.	0.072	0.08851	B	.;.;.	.;.;.	0.461964	0.08317	5.065	0.93822985145310411	0.23805	0.01002	0.03790	N	AEFDGBI	0.046982	0.07863	N	-0.997947182584483	0.08648	0.4062596	-0.99319807676885	0.09937	0.4973847	0.998568083899201	0.37206	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.79	1.98	0.25351	0.845000	0.27321	1.176000	0.24660	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.253000	0.23340	0.6:0.0:0.2688:0.1312	4.724	0.12310	437	0.80299	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1674.43	33	chr15	51400402	.	G	A	1674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.64;DP=468;ExcessHet=0;FS=2.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.48;SOR=0.75	GT:AD:DP:GQ:PL	0/1:77,68:145:99:1686,0,2005	9	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	593.56	70	chr15	51480616	.	G	C	593.56	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-4.018;DP=832;ExcessHet=1.5895;FS=461.254;InbreedingCoeff=-0.4816;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.28;SOR=10.188	GT:AD:DP:GQ:PL	0/1:83,38:127:99:317,0,2018	1	0	4	5
chr15	52246968	52246968	G	A	exonic	MYO5C	.	nonsynonymous SNV	MYO5C:NM_018728:exon16:c.C1928T:p.T643M	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0647363058689	0.0008	0.000399361	0.0008	0.0001	0.0007	0	0	0.0014	0	0.0001	0.0007374	114	154602	rs56250328	0.0007	0.0007	0.0007	0.0007	0.0132	0.0007	0.0006	0.0108	0.0099	0.0002	0.0012	0.0162	0.0001	0	0.0132	0.0003	0.0020	0.0002	0.0011	0.0011	0.0010	0.0012	0.0037	0.0010	0.0009	0.0030	0.0027	0.0002	0	0.0037	0.0193	0	0	0.0102	0.0004	0.0019	0.0002	0.0	0.91255	D	0.002	0.79402	D	0.915	0.50599	P	0.549	0.49194	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.975	0.85398	M	2.06	0.20523	T	-5.28	0.84246	D	0.523	0.55280	-0.7891	0.55782	T	0.117	0.41275	T	10	0.018510222	0.00403	T	0.064736	0.69366	D	0.264	0.57741	.	.	0.656646541394	0.65378	0.5073467229468648	0.50656	0.233580768399	0.25890	0.690228998661	0.65739	T	0.619224	0.88041	D	-0.233677	0.16164	T	-0.148971	0.59336	T	0.146695269455784	0.16837	T	0.934107	0.75346	D	0.83613324	0.86332	0.6572462	0.79928	0.83613324	0.86334	0.6572462	0.79929	-8.979	0.67562	D	.	.	0.158	0.34906	B	.	.	4.412818	0.68277	25.2	0.99874908391855488	0.95244	0.94979	0.62999	D	AEFGBCIJ	0.854023	0.77103	D	0.465549113053729	0.65090	4.779031	0.366921714893759	0.59532	4.131995	0.999999999849244	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.27	4.36	0.51643	8.147000	0.89557	7.601000	0.61564	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.088000	0.17685	0.0716:0.0:0.9284:0.0	14.460	0.67017	276	0.89131	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class V myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.012228	0.017544	0.100000	0.008621	0.003049	0.000000	0.05	1460.43	35	chr15	52246968	.	G	A	1460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=429;ExcessHet=0;FS=1.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=1.46;SOR=0.919	GT:AD:DP:GQ:PL	0/1:54,56:110:99:1472,0,1264	9	0	1	0
chr15	58065641	58065641	T	A	exonic	ALDH1A2	.	nonsynonymous SNV	ALDH1A2:NM_003888:exon1:c.A10T:p.S4C,ALDH1A2:NM_170696:exon1:c.A10T:p.S4C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.927593764587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.044	0.52727	D	0.94	0.63424	P	0.533	0.55126	P	0.002708	0.36068	N	0.184440	0.999923	0.81001	D	2.075	0.57047	M	-1.02	0.76300	T	-1.09	0.28290	N	0.564	0.61849	-0.3153	0.74554	T	0.344	0.70948	T	10	0.76409423	0.76569	D	0.927594	0.99472	D	0.377	0.69527	0.241	0.17371	0.608015463435	0.60486	0.658418537707282	0.65778	1.14165798427	0.78952	0.72115457058	0.70216	T	0.300025	0.67253	T	0.0670819	0.60491	T	-0.141418	0.59994	T	0.977452039718628	0.71852	D	0.89681	0.63970	D	0.21547055	0.43981	0.21674287	0.46313	0.21547055	0.43981	0.21674287	0.46312	-5.508	0.42027	T	.	.	0.135	0.29228	B	.;.	.;.	4.640208	0.73860	26.1	0.99338378199378885	0.60051	0.96847	0.71262	D	AEFDBHCI	0.947488	0.95808	D	0.23343586224901	0.52824	3.454371	0.225547635343898	0.51271	3.31094	0.999999999999999	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.372554	0.06265	0	.	.	3.34	3.34	0.37357	6.767000	0.74770	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	11.130	0.47566	930	0.16408	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	614.43	34	chr15	58065641	.	T	A	614.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.177;DP=309;ExcessHet=0;FS=1.553;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.2;ReadPosRankSum=1.14;SOR=1.329	GT:AD:DP:GQ:PL	0/1:10,22:32:99:626,0,236	9	0	1	0
chr15	62164783	62164783	C	G	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.G202C:p.A68P	.	421	1013	82	6	0	94	0.0443396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	0.0036	0.0139776	0.0439	0.0102	0.0222	0	0.0455	0.0300	0.0323	0.0540	0.0054656	845	154602	rs146941362	0.0098	0.0096	0.0089	0.0107	0.0407	0.0097	0.0096	0.0395	0.0390	0.0021	0.0047	0.0178	0.0004	0.0038	0.0368	0.0082	0.0114	0.0407	0.0069	0.0069	0.0066	0.0072	0.0415	0.0065	0.0064	0.0368	0.0350	0.0027	0.0077	0.0052	0.0173	0.0010	0.0045	0.0171	0.0075	0.0104	0.0415	0.263	0.16412	T	0.197	0.27855	T	0.863	0.47474	P	0.562	0.49608	P	0.717320	0.09964	U	0.841107	1	0.08975	N	1.445	0.36358	L	-3.27	0.93640	D	-1.54	0.37375	N	0.119	0.10911	-0.3071	0.74787	T	0.494	0.80816	T	10	0.002736181	0.00043	T	.	.	.	0.297	0.61730	.	.	.	.	0.08612991599421099	0.08546	1.94099853373	0.93232	0.790393352509	0.80503	T	0.006496	0.05931	T	-0.404157	0.02174	T	-0.321904	0.42365	T	0.0249916728120931	0.01272	T	0.435556	0.11926	T	0.14233036	0.32760	0.19578515	0.43275	0.14233036	0.32759	0.19578515	0.43274	-3.454	0.15794	T	.	.	0.087	0.11269	B	.	.	0.845048	0.12171	8.717	0.9855664577571297	0.42922	0.12150	0.17090	N	AEFDBCIJ	0.321505	0.42428	N	-0.642543929129143	0.17678	0.9116954	-0.842017092142143	0.13479	0.6994675	0.999950864942535	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.581474	0.35302	0	.	.	3.25	-0.0685	0.13088	-0.595000	0.05822	-0.498000	0.08819	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1906:0.4752:0.0:0.3342	3.087	0.05904	277	0.89083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027244	0.005882	0.022857	0.024242	0.000000	0.045455	0.013158	0.067460	0.1	2025.14	85	chr15	62164783	.	C	G	2025.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.058;DP=463;ExcessHet=0.2348;FS=5.787;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.794;SOR=0.985	GT:AD:DP:GQ:PL	0/1:34,39:73:99:942,0,749	8	0	2	0
chr15	64944715	64944715	A	T	exonic	ANKDD1A	.	nonsynonymous SNV	ANKDD1A:NM_182703:exon12:c.A1129T:p.I377L	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0141778372945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.42794	T	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.000000	0.999998	0.81001	D	-0.35	0.03145	N	.	.	.	.	.	.	0.6	0.66873	-0.7863	0.55944	T	0.210	0.57041	T	10	0.54149187	0.63745	D	0.014178	0.34122	T	0.294	0.61388	0.48	0.55983	0.588745719774	0.58549	0.43524705359766486	0.43441	.	.	0.52411866188	0.42207	T	0.042975	0.26354	T	0.134562	0.67802	D	-0.0444872	0.67398	D	0.999365508556366	0.97117	D	0.631037	0.24617	T	0.57295823	0.71222	0.55713147	0.74382	0.57295823	0.71223	0.55713147	0.74383	-10.629	0.77584	D	.	.	0.268	0.50232	B	.;.	.;.	4.178674	0.62890	24.5	0.99537197771985353	0.70274	0.98020	0.78929	D	AEFDGBI	0.780561	0.71242	D	0.549431009241446	0.70048	5.444564	0.584963836047172	0.73861	6.040314	0.999973161575803	0.50053	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.23	5.23	0.72570	7.135000	0.76878	4.884000	0.45695	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.110	0.64647	245	0.90404	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1289.43	43	chr15	64944715	.	A	T	1289.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.3;DP=459;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.062;SOR=0.576	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1301,0,1392	9	0	1	0
chr15	65564320	65564320	C	T	exonic	HACD3	.	nonsynonymous SNV	HACD3:NM_016395:exon7:c.C638T:p.P213L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0315688328465	.	0.000199681	0.0001	0	0	0.0001	0.0005	0	0.0011	0.0005	9.06e-05	14	154602	rs570046325	6.501e-05	6.567e-05	4.493e-05	8.529e-05	0.0008	5.43e-05	5.043e-05	0.0006	0.0006	0	8.958e-05	0	0	0.0001	0.0002	1.439e-05	1.656e-05	0.0008	6.568e-05	6.563e-05	5.141e-05	8.059e-05	0.0006	3.515e-05	2.615e-05	0.0002	8.992e-05	2.408e-05	0	0.0003	0	0	0	0	2.94e-05	0	0.0006	0.685	0.46513	T	0.13	0.46182	T	0.997	0.70673	D	0.837	0.59984	P	0.000370	0.45194	D	0.235877	0.999999	0.58761	D	2.36	0.67893	M	1.41	0.33412	T	-2.91	0.62343	D	0.613	0.66529	-0.8173	0.54102	T	0.177	0.52146	T	10	0.35177302	0.52020	T	0.031569	0.53618	D	0.360	0.68052	0.68	0.81788	0.388970301349	0.38507	0.5845023449730615	0.58380	0.429269928717	0.43224	0.476957798004	0.35638	T	0.233082	0.65518	T	-0.30192	0.08479	T	-0.302714	0.44438	T	0.594726264476776	0.36192	D	0.893711	0.63166	D	0.20761906	0.42973	0.21122532	0.45542	0.20761906	0.42973	0.21122532	0.45541	-8.995	0.68536	D	.	.	0.251	0.50708	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.291523	0.65449	24.8	0.98901437972843609	0.48199	0.98522	0.83679	D	AEFBI	0.762102	0.69962	D	0.505184646713301	0.67396	5.076041	0.40169549094758	0.61669	4.370462	0.999654846492656	0.41424	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.252000	0.72400	4.858000	0.45442	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.029000	0.12982	0.0:0.8643:0.1357:0.0	15.742	0.77670	589	0.68969	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	838.43	37	chr15	65564320	.	C	T	838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=401;ExcessHet=0;FS=4.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.394;SOR=0.306	GT:AD:DP:GQ:PL	0/1:41,34:75:99:850,0,939	9	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	37.26	75	chr15	77470925	.	G	C	37.26	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.562;DP=393;ExcessHet=0.2348;FS=385.528;InbreedingCoeff=-0.1105;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=1.44;SOR=8.189	GT:AD:DP:GQ:PL	0/1:41,17:58:41:41,0,825	8	0	2	0
chr15	84014619	84014619	T	C	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon24:c.T4051C:p.S1351P,ADAMTSL3:NM_207517:exon24:c.T4051C:p.S1351P	.	424	1093	5	0	0	5	0.00228206	.	.	.	2371944	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.702	0.163038661777	.	.	0.0002	0	8.639e-05	0	0	0	0.0011	0.0016	0.0001876	29	154602	rs570022848	6.842e-05	6.84e-05	4.084e-05	9.628e-05	0.0011	5.714e-05	5.327e-05	0.0009	0.0009	0	0	0	0	0	0.0002	0	3.312e-05	0.0011	7.222e-05	7.218e-05	1.285e-05	0.0001	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.006	0.65419	D	0.006	0.70582	D	0.999	0.77913	D	0.977	0.77976	D	0.001813	0.37945	N	0.000000	0.998608	0.45151	D	3.275	0.90144	M	-0.4	0.69287	T	-2.3	0.53898	N	0.903	0.90363	0.115	0.84440	D	0.504	0.81320	D	10	0.6315626	0.68546	D	0.163039	0.84247	D	0.702	0.89284	0.76	0.88892	0.856079322986	0.85469	0.9060120976334395	0.90574	0.65019096863	0.58310	0.465620040894	0.34080	T	0.104485	0.41409	T	-0.0115408	0.50049	T	0.180567	0.82029	D	0.406232155376292	0.29176	T	0.822018	0.48145	T	0.8991949	0.91311	0.8913427	0.94362	0.8991949	0.91312	0.8913427	0.94362	-11.783	0.84744	D	.	.	0.716	0.73637	P	.;.	.;.	4.291493	0.65449	24.8	0.99855756847134702	0.93458	0.88343	0.48227	D	AEFI	0.791736	0.72024	D	0.688852834464214	0.78903	6.966018	0.606033261482406	0.75376	6.299814	6.40837120482374E-4	0.07505	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	3.82	0.43153	3.751000	0.54882	2.703000	0.34176	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1506:0.8494	11.460	0.49454	635	0.64580	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1691.43	35	chr15	84014619	.	T	C	1691.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.741;DP=439;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.201;SOR=0.78	GT:AD:DP:GQ:PL	0/1:58,72:130:99:1703,0,1468	9	0	1	0
chr15	84025278	84025278	G	A	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon27:c.G4498A:p.G1500S,ADAMTSL3:NM_207517:exon27:c.G4498A:p.G1500S	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.0851577928096	7.7e-05	0.000399361	0.0002	0	0.0004	0	0	0.0002	0	0.0004	0.000194	30	154602	rs138649477	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0024	0.0021	8.962e-05	0.0002	7.672e-05	0.0002	1.874e-05	0.0036	0.0001	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	2.406e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0019	0.0004	0.012	0.54683	D	0.045	0.49663	D	1.0	0.90584	D	0.93	0.77976	D	0.002038	0.37411	N	0.000000	0.986653	0.40465	D	3.845	0.95734	H	-0.46	0.70014	T	-3.36	0.66549	D	0.734	0.73465	0.269	0.87047	D	0.552	0.83626	D	10	0.6886272	0.71717	D	0.085158	0.74475	D	0.502	0.78475	.	.	0.878794633686	0.87760	0.8455936807256719	0.84520	0.551534003631	0.51990	0.394687086344	0.24327	T	0.05578	0.30103	T	-0.0307606	0.47306	T	0.0480393	0.73453	D	0.482312142848969	0.31982	T	0.862414	0.55771	D	0.31072298	0.53848	0.30939978	0.56955	0.31072298	0.53848	0.30939978	0.56954	-9.111	0.68408	D	.	.	0.117	0.34160	B	.;.	.;.	5.259854	0.88314	29.6	0.99862429860722435	0.94093	0.92717	0.56374	D	AEFDGI	0.618511	0.60429	D	0.716449214924806	0.80708	7.355049	0.603281198108359	0.75179	6.264835	0.965308700839249	0.28822	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	5.632000	0.67493	9.233000	0.79371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:1.0:0.0	15.931	0.79444	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1820.43	34	chr15	84025278	.	G	A	1820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.611;DP=457;ExcessHet=0;FS=6.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.182;SOR=0.37	GT:AD:DP:GQ:PL	0/1:74,75:149:99:1832,0,1668	9	0	1	0
chr15	84031386	84031386	G	T	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon28:c.G4708T:p.A1570S,ADAMTSL3:NM_207517:exon28:c.G4708T:p.A1570S	.	424	1093	5	0	0	5	0.00228206	.	.	.	2371945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.00738172399669	.	.	0.0002	0	8.639e-05	0	0	0	0.0011	0.0016	0.0001876	29	154602	rs559759377	6.841e-05	6.84e-05	4.084e-05	9.626e-05	0.0011	5.713e-05	5.326e-05	0.0009	0.0009	0	0	0	0	0	0.0002	0	3.312e-05	0.0011	7.223e-05	7.218e-05	1.285e-05	0.0001	0.0023	3.969e-05	3.126e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.498	0.07944	T	0.438	0.13403	T	0.094	0.25382	B	0.026	0.20792	B	0.083526	0.02380	N	2.107800	1	0.08975	N	0.375	0.12094	N	-0.05	0.63403	T	-0.31	0.14000	N	0.085	0.06190	-1.0297	0.20551	T	0.082	0.32178	T	10	0.012741715	0.00273	T	0.007382	0.19576	T	0.069	0.20116	0.232	0.16005	0.29527378943	0.29149	0.16230224484662414	0.16150	0.113792559973	0.12838	0.223155230284	0.01500	T	0.003465	0.02869	T	-0.537618	0.00346	T	-0.575107	0.14984	T	0.021492192523295	0.00853	T	0.684632	0.29972	T	0.039612155	0.05502	0.038641106	0.03776	0.039612155	0.05501	0.038641106	0.03776	-2.651	0.06901	T	.	.	0.075	0.06571	B	.;.	.;.	0.191812	0.05780	2.221	0.73650190702005969	0.10405	0.02040	0.06108	N	AEFDBI	0.073820	0.14778	N	-1.19853798048204	0.05022	0.2280003	-1.17800556851023	0.06279	0.3017148	9.447503794953E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.93	-4.06	0.03718	-0.826000	0.04536	0.111000	0.14782	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.1892:0.4775:0.2206:0.1127	4.017	0.09136	640	0.64132	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1398.43	34	chr15	84031386	.	G	T	1398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.255;DP=407;ExcessHet=0;FS=6.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=1.12;SOR=0.849	GT:AD:DP:GQ:PL	0/1:41,58:99:99:1410,0,1013	9	0	1	0
chr15	84657178	84657178	G	A	exonic	NMB	.	stopgain	NMB:NM_021077:exon2:c.C328T:p.Q110X,NMB:NM_205858:exon2:c.C328T:p.Q110X	.	428	1090	4	0	0	4	0.0018315	0.0171	0.364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.903e-05	0	0.0001	0	0	0	0	0.0003	3.88e-05	6	154602	rs757997461	8.92e-06	1.026e-05	5.461e-06	1.242e-05	0.0001	4.98e-06	3.84e-06	8.064e-05	6.288e-05	0	0	0	0	0	0	0	1.663e-05	0.0001	2.626e-05	2.624e-05	0	5.368e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.011712	0.29430	N	0.291814	0.999383	0.81001	D	.	.	.	.	.	.	.	.	.	0.971	0.98167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364351	0.87584	D	0.491094	0.94428	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.290127	0.97390	37	0.9902331302991616	0.50634	0.78300	0.38610	D	AEFDGBCI	0.392013	0.47023	N	0.394487874990972	0.61124	4.309265	0.195890310465937	0.49619	3.163131	0.999999200154633	0.74766	0.740716	0.97744	0	0.588066	0.40923	0	0.0	0.00061	3	0.655142	0.61905	0	.	.	5.31	4.39	0.52211	3.060000	0.49648	8.482000	0.77302	-0.124000	0.13482	1.000000	0.71638	1.000000	0.68203	0.082000	0.17360	0.0838:0.0:0.9162:0.0	12.849	0.57233	701	0.57775	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	406.43	33	chr15	84657178	.	G	A	406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.634;DP=311;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.325;SOR=0.776	GT:AD:DP:GQ:PL	0/1:16,17:33:99:418,0,402	9	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	568.24	102	chr15	88530840	.	T	C	568.24	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.277;DP=924;ExcessHet=2.8389;FS=147.511;InbreedingCoeff=-0.3348;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=0.194;SOR=10.283	GT:AD:DP:GQ:PL	0/1:86,21:107:48:48,0,2123	5	0	5	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	14490.1	52	chr15	89776903	.	AGGGCAGGGGCAG	*	14490.1	.	AC=4;AF=0.2;AN=20;DP=496;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=4;MLEAF=0.2;MQ=60;QD=33.86;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,23:48:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:2049,1024,947:89776889	6	0	4	0
chr15	98441138	98441138	A	T	exonic	FAM169B	.	nonsynonymous SNV	FAM169B:NM_182562:exon6:c.T392A:p.V131E	.	428	1076	17	0	1	18	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0021	0.00279553	0.0043	0.0005	0.0016	0	0.0030	0.0042	0.0089	0.0117	0.0039262	607	154602	rs76060825	0.0035	0.0035	0.0032	0.0039	0.0116	0.0035	0.0034	0.0110	0.0108	0.0005	0.0013	0.0127	7.557e-05	0.0035	0.0047	0.0030	0.0042	0.0116	0.0028	0.0028	0.0025	0.0031	0.0104	0.0026	0.0025	0.0081	0.0073	0.0005	0	0.0033	0.0141	0.0002	0.0047	0.0034	0.0030	0.0014	0.0104	0.169	0.22920	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.008785	0.01219	N	3.298320	1	0.08975	N	1.7	0.43825	L	-0.67	0.72458	T	-1.45	0.35597	N	.	.	-0.9766	0.35772	T	0.130	0.43968	T	10	0.0036017895	0.00065	T	.	.	.	0.134	0.36365	.	.	0.132336055621	0.12781	0.2800522186610021	0.27918	.	.	0.282662689686	0.07867	T	0.021447	0.16701	T	-0.521743	0.00430	T	-0.511836	0.21125	T	0.00467752675285794	0.00050	T	0.309069	0.05976	T	0.08721062	0.20299	0.07078254	0.15081	0.08721062	0.20298	0.07078254	0.15081	-3.169	0.12106	T	.	.	0.108	0.20352	B	.	.	0.044563	0.04597	1.271	0.79658596324439401	0.12841	0.01423	0.04798	N	ALL	0.041056	0.06190	N	-1.12582985455403	0.06187	0.2841303	-1.2258747807242	0.05497	0.2620806	0.967755296109223	0.29000	0.487112	0.14033	0	0.607795	0.50457	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	4.87	-5.59	0.02305	-0.485000	0.06601	-0.776000	0.07475	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1663:0.2673:0.2694:0.297	0.692	0.00836	980	0.04108	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.007576	0.05	777.43	41	chr15	98441138	.	A	T	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=411;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.52;SOR=0.538	GT:AD:DP:GQ:PL	0/1:43,32:75:99:789,0,1037	9	0	1	0
chr15	98916084	98916084	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon9:c.G1949A:p.R650Q,IGF1R:NM_001291858:exon9:c.G1949A:p.R650Q	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	714697	not_specified|IGF1R-related_disorder|Growth_delay_due_to_insulin-like_growth_factor_I_resistance|not_provided	MedGen:CN169374|.|MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.043	0.00612196327726	0.0022	0.00139776	0.0005	0.0058	8.64e-05	0	0	4.496e-05	0	0	0.0004916	76	154602	rs61731172	0.0003	0.0003	0.0003	0.0002	0.0076	0.0003	0.0003	0.0068	0.0065	0.0076	6.708e-05	0	0	0	0	0.0001	0.0005	3.478e-05	0.0018	0.0018	0.0020	0.0016	0.0061	0.0016	0.0016	0.0055	0.0052	0.0061	0	0.0005	0	0	0	0	0.0002	0.0014	0	0.524	0.07211	T	0.877	0.03250	T	0.007	0.14655	B	0.001	0.04355	B	0.026612	0.25890	N	0.270964	0.992728	0.41725	D	-1.065	0.01049	N	-0.54	0.70950	T	-0.3	0.11913	N	0.241	0.27197	-1.1030	0.03747	T	0.075	0.30242	T	10	0.006118804	0.00138	T	0.006122	0.16023	T	0.043	0.11576	.	.	0.547715812668	0.54426	0.2924782086462101	0.29160	0.710791701504	0.61698	0.279150366783	0.07374	T	0.37964	0.74235	T	-0.431961	0.01443	T	-0.391063	0.34428	T	0.0218060254590506	0.00887	T	0.909609	0.68017	D	0.040195804	0.05693	0.024956573	0.00525	0.05028145	0.09058	0.030219827	0.01451	-1.765	0.02407	T	0.06910492922485523	0.02563	0.053	0.00505	B	.;.;.;.	.;.;.;.	1.982679	0.25189	16.67	0.96178869159839964	0.28954	0.69186	0.34089	D	AEFDBCI	0.035221	0.04495	N	-0.789343218850948	0.13586	0.6704157	-0.581479143101704	0.19975	1.074201	0.999967130025025	0.48965	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.654926	0.60358	0	.	.	4.83	1.96	0.25203	1.861000	0.39078	2.430000	0.32726	-0.202000	0.08738	1.000000	0.71638	0.996000	0.32793	0.994000	0.71098	0.5135:0.0:0.4864:0.0	6.849	0.23185	987	0.02648	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1628.43	33	chr15	98916084	.	G	A	1628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=467;ExcessHet=0;FS=6.05;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.311;SOR=0.379	GT:AD:DP:GQ:PL	0/1:91,65:156:99:1640,0,2360	9	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3512.36	45	chr16	1397277	.	A	*	3512.36	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.056;DP=806;ExcessHet=5.3821;FS=3.421;InbreedingCoeff=-0.3919;MLEAC=9;MLEAF=0.5;MQ=59.91;MQRankSum=0;QD=6.39;ReadPosRankSum=-0.022;SOR=0.464	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,20:75:99:.:.:565,0,1787:.	2	1	6	1
chr16	1911926	1911926	G	C	exonic	HS3ST6	.	nonsynonymous SNV	HS3ST6:NM_001009606:exon2:c.C693G:p.H231Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.809	0.192072854891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.72	0.44442	L	.	.	.	.	.	.	0.904	0.90476	0.521	0.90843	D	0.696	0.89528	D	10	0.96290386	0.95723	D	0.192073	0.86222	D	0.809	0.93816	0.871	0.96372	0.753142635694	0.75090	0.6943412588482684	0.69375	.	.	0.762121975422	0.76245	T	0.417863	0.77038	T	0.245	0.78140	D	0.114293	0.77856	D	0.997383177280426	0.91430	D	.	.	.	0.8516879	0.87461	0.85520285	0.91854	0.8516879	0.87463	0.85520285	0.91854	-12.198	0.85802	D	.	.	0.831	0.78781	P	.	.	3.544907	0.49806	22.8	0.99381566304311575	0.61891	0.87705	0.47335	D	AEFBHCI	0.568349	0.57357	D	0.568115682200844	0.71191	5.613615	0.541955796673407	0.70841	5.564643	0.928403937125275	0.26927	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.84	4.84	0.62125	3.234000	0.51019	2.449000	0.32805	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	16.986	0.86212	623	0.65786	Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1749.43	78	chr16	1911926	.	G	C	1749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.669;DP=709;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.18;SOR=0.77	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1761,0,1732	9	0	1	0
chr16	2971918	2971918	G	C	exonic	PAQR4	.	nonsynonymous SNV	PAQR4:NM_001284512:exon2:c.G570C:p.W190C,PAQR4:NM_001284511:exon3:c.G675C:p.W225C,PAQR4:NM_001284513:exon3:c.G591C:p.W197C,PAQR4:NM_152341:exon3:c.G792C:p.W264C,PAQR4:NM_001324118:exon4:c.G591C:p.W197C	.	419	1101	2	0	0	2	0.000907441	.	.	.	4043599	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.628	0.0925563262084	0.0003	0.000199681	0.0009	0.0002	0.0040	0	0	0.0005	0.0065	0.0009	0.0006921	107	154602	rs141132998	0.0007	0.0007	0.0007	0.0007	0.0018	0.0007	0.0007	0.0015	0.0014	0.0001	0.0018	0	0	0.0002	0.0002	0.0007	0.0006	0.0009	0.0005	0.0005	0.0004	0.0006	0.0012	0.0004	0.0004	0.0008	0.0006	0.0002	0	0.0012	0	0	0.0002	0.0034	0.0007	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.3	0.90472	M	1.47	0.34841	T	-7.52	0.95102	D	0.809	0.81261	-0.4735	0.69602	T	0.240	0.60738	T	10	0.1337651	0.25459	T	0.092556	0.75913	D	0.628	0.85666	0.762	0.89053	0.503683571763	0.50005	0.9680416429472074	0.96792	0.806452370599	0.66494	0.705561220646	0.67949	T	0.316312	0.68786	T	-0.0724569	0.40933	T	0.11636	0.77993	D	0.181632547279002	0.19338	T	0.875312	0.58632	D	0.91044074	0.92336	0.78031176	0.87048	0.91044074	0.92337	0.78031176	0.87049	-10.777	0.78421	D	.	.	0.969	0.92711	P	.;.;.;.;.	.;.;.;.;.	5.713780	0.93185	33	0.99135647100918178	0.53383	0.98150	0.80031	D	AEFDGBHCI	0.807974	0.73187	D	0.792483899385624	0.85633	8.63461	0.712389758827928	0.83319	7.990861	0.999999999993559	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	4.8	4.8	0.61157	7.251000	0.77723	11.764000	0.95697	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	15.378	0.74343	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	608.43	39	chr16	2971918	.	G	C	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.227;DP=383;ExcessHet=0;FS=1.116;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-1.575;SOR=0.926	GT:AD:DP:GQ:PL	0/1:26,27:53:99:620,0,686	9	0	1	0
chr16	3664410	3664410	-	CGG	exonic	TRAP1	.	nonframeshift insertion	TRAP1:NM_001272049:exon12:c.1273_1274insCCG:p.S424_G425insA,TRAP1:NM_016292:exon13:c.1432_1433insCCG:p.S477_G478insA	.	436	1057	29	0	0	29	0.0135324	.	.	.	714907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00499201	0.0071	0.0008	0.0046	0	0.0007	0.0059	0.0116	0.0222	0.004111	107	26028	rs201472428	0.0061	0.0061	0.0055	0.0066	0.0210	0.0059	0.0059	0.0202	0.0198	0.0009	0.0029	0.0068	0	0.0008	0.0123	0.0056	0.0059	0.0210	0.0041	0.0041	0.0038	0.0045	0.0203	0.0039	0.0037	0.0170	0.0158	0.0009	0.0110	0.0039	0.0055	0	0.0004	0.0034	0.0057	0.0052	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010101	0.000000	0.005450	0.017544	0.000000	0.000000	0.009317	0.026515	0.1	3994.1	34	chr16	3664410	.	C	CCGG	3994.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.415;DP=496;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.58;ReadPosRankSum=1.63;SOR=0.704	GT:AD:DP:GQ:PL	0/1:37,56:93:99:2197,0,1386	8	0	2	0
chr16	3778056	3778056	C	A	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon9:c.G1954T:p.A652S,CREBBP:NM_004380:exon10:c.G2068T:p.A690S	Rubinstein-Taybi syndrome 1, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	137684	Inborn_genetic_diseases|Rubinstein-Taybi_syndrome|not_specified|CREBBP-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	0.0296299249979	.	0.00119808	0.0006	0	0	0.0001	0	2.997e-05	0.0011	0.0042	0.0005175	80	154602	rs531539047	0.0003	0.0003	0.0001	0.0004	0.0043	0.0003	0.0003	0.0040	0.0038	0	2.236e-05	7.652e-05	5.038e-05	0	0	1.529e-05	0.0003	0.0043	0.0002	0.0002	0.0001	0.0002	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0	0.0054	0.298	0.14595	T	0.821	0.03817	T	0.756	0.43409	P	0.351	0.42849	B	0.006497	0.31997	N	0.305959	0.992052	0.27202	N	1.5	0.37844	L	-1.64	0.82533	D	-0.15	0.09297	N	0.136	0.13341	-0.7400	0.58452	T	0.281	0.65289	T	10	0.005286813	0.00116	T	0.02963	0.52101	D	0.104	0.29647	0.253	0.19223	0.724454754975	0.72201	0.12830815708222407	0.12755	0.93114524429	0.71818	0.308161735535	0.11629	T	0.369312	0.73405	T	-0.406135	0.02109	T	-0.355758	0.38543	T	0.0230231568093918	0.01026	T	0.751925	0.37414	T	0.022264704	0.00877	0.028830614	0.01156	0.019726079	0.00510	0.032473795	0.01988	-4.186	0.28568	T	0.19230528032703306	0.25265	0.068	0.02765	B	.;.;.	.;.;.	2.260766	0.28888	17.94	0.80922265560760598	0.13433	0.69203	0.34095	D	AEFBI	0.217323	0.34247	N	-0.670829116901181	0.16855	0.862471	-0.596534881268545	0.19583	1.051317	0.137414429372066	0.17208	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	2.59	0.30091	0.580000	0.23505	.	.	-0.233000	0.07663	0.095000	0.22689	0.310000	0.24267	0.903000	0.43903	0.0:0.5569:0.139:0.3041	5.784	0.17589	572	0.70300	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	783.43	34	chr16	3778056	.	C	A	783.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.07;DP=374;ExcessHet=0;FS=0.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.314;SOR=0.502	GT:AD:DP:GQ:PL	0/1:34,32:66:99:795,0,651	9	0	1	0
chr16	11927632	11927688	GCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.357_413del:p.D120_A138del	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0035	0.0007	0	0.0002	0.0002	0.0023	0.0051	3.84e-05	1	26028	.	0.0008	0.0013	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0.0039	0.0007	0.0002	0	0.0002	0.0026	0.0002	0.0011	0.0076	0.0033	0.0045	0.0030	0.0035	0.0145	0.0030	0.0029	0.0118	0.0108	0.0089	0	0.0015	0.0003	0	9.495e-05	0.0068	0.0005	0.0010	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	457.39	178	chr16	11927631	.	AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	A	457.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.99;DP=1086;ExcessHet=0;FS=8.348;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.81;MQRankSum=0.7;QD=2.81;ReadPosRankSum=1.59;SOR=1.694	GT:AD:DP:GQ:PL	0/1:143,20:163:99:469,0,5885	9	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1673.04	150	chr16	14582206	.	G	C	1673.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.707;DP=1877;ExcessHet=22.563;FS=418.632;InbreedingCoeff=-0.9999;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=2.08;SOR=13.119	GT:AD:DP:GQ:PL	0/1:96,58:180:99:175,0,1685	0	0	10	0
chr16	20790685	20790685	C	G	exonic	ACSM3	.	stopgain	ACSM3:NM_005622:exon10:c.C1323G:p.Y441X	.	424	1084	12	2	0	16	0.00732601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00359425	0.0066	0.0017	0.0029	0	0.0017	0.0097	0.0033	0.0050	0.006727	1040	154602	rs34381224	0.0091	0.0091	0.0092	0.0090	0.0105	0.0089	0.0089	0.0104	0.0103	0.0013	0.0047	0.0069	7.56e-05	0.0022	0.0036	0.0105	0.0093	0.0045	0.0065	0.0065	0.0069	0.0061	0.0103	0.0062	0.0061	0.0097	0.0094	0.0019	0	0.0094	0.0078	0	0.0017	0	0.0103	0.0062	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.313	0.35301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0292339	0.55622	T	0.278611	0.87050	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	8.713335	0.97922	38	0.98337932026192099	0.40408	0.08396	0.14331	N	AEFBI	0.270134	0.38626	N	-0.0769553734905351	0.38405	2.248822	-0.360743647676688	0.26178	1.444286	0.0545945641954599	0.14981	0.638212	0.43195	0	0.670034	0.63936	0	0.731467	0.93227	0	0.567892	0.33627	0	.	.	5.11	0.217	0.14540	-0.043000	0.11996	0.363000	0.17596	-0.114000	0.14653	0.008000	0.17931	0.130000	0.22991	0.723000	0.34869	0.0:0.4224:0.0:0.5776	10.974	0.46668	143	0.94301	AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.000000	0.000000	0.050000	0.008621	0.003067	0.000000	0.05	1599.43	34	chr16	20790685	.	C	G	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=494;ExcessHet=0;FS=2.107;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.36;SOR=0.538	GT:AD:DP:GQ:PL	0/1:75,66:141:99:1611,0,1655	9	0	1	0
chr16	27210328	27210328	G	A	exonic	KDM8	.	nonsynonymous SNV	KDM8:NM_001145348:exon2:c.G319A:p.E107K,KDM8:NM_024773:exon2:c.G205A:p.E69K	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0230606154334	.	0.000998403	0.0008	0	8.673e-05	0	0	0	0.0011	0.0057	0.0006662	103	154602	rs539639840	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0045	2.987e-05	2.236e-05	0	0	0	0	7.194e-06	0.0006	0.0050	0.0001	0.0001	5.137e-05	0.0002	0.0041	8.656e-05	7.249e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	0.021	0.50676	D	0.387	0.40909	T	0.066	0.77913	B	0.007	0.61580	B	0.000098	0.51296	U	0.129642	0.998436	0.44913	D	2.245	0.63543	M	1.83	0.25344	T	-1.35	0.42191	N	0.634	0.64903	-0.8286	0.53390	T	0.168	0.50681	T	10	0.0070341825	0.00160	T	0.023061	0.45999	T	0.088	0.25558	.	.	0.572998254541	0.56966	0.3687357526598822	0.36787	0.214880716361	0.24025	0.476075321436	0.35517	T	0.049903	0.28440	T	-0.381785	0.03036	T	-0.319679	0.42609	T	0.0652175766270193	0.07964	T	0.908909	0.67748	D	0.112274796	0.26525	0.12509347	0.30144	0.112274796	0.26525	0.12509347	0.30144	-6.81	0.52633	T	.	.	0.100	0.48438	B	.;.;.;.;.	.;.;.;.;.	3.786411	0.54474	23.5	0.99866516113666404	0.94457	0.98791	0.86901	D	AEFDBI	0.571359	0.57537	D	0.494955483200326	0.66793	4.996496	0.518758569116928	0.69252	5.334126	0.99956418185702	0.40425	0.719381	0.83141	0	0.546412	0.12157	0	0.723133	0.82415	0	0.491896	0.07777	0	.	.	5.44	5.44	0.79348	4.848000	0.62573	11.779000	0.96061	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:0.0:1.0:0.0	17.838	0.88618	895	0.25842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1827.43	33	chr16	27210328	.	G	A	1827.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.359;DP=444;ExcessHet=0;FS=3.116;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=1.67;SOR=0.991	GT:AD:DP:GQ:PL	0/1:61,73:134:99:1839,0,1487	9	0	1	0
chr16	30979498	30979498	C	T	exonic	SETD1A	.	nonsynonymous SNV	SETD1A:NM_014712:exon14:c.C3712T:p.R1238C	.	.	.	.	.	.	.	.	.	.	.	3900613	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.412	0.722368054065	.	.	4.214e-05	0	0	0.0004	0	0	0	7.501e-05	1.94e-05	3	154602	rs774783241	2.413e-05	2.463e-05	2.193e-05	2.635e-05	5.862e-05	1.752e-05	1.551e-05	2.213e-05	1.444e-05	3e-05	0	0	2.547e-05	0	0	2.348e-05	3.338e-05	5.862e-05	3.285e-05	3.283e-05	1.285e-05	5.379e-05	0.0001	1.261e-05	7.98e-06	2.259e-05	9.07e-06	4.825e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.046	0.49120	D	0.999	0.77913	D	0.799	0.58136	P	0.000265	0.46590	D	0.139998	0.859396	0.28379	N	1.04	0.26193	L	-3.62	0.95077	D	-1.81	0.42575	N	0.414	0.45426	0.378	0.88771	D	0.776	0.92395	D	10	0.5301858	0.63139	D	0.722368	0.97756	D	0.412	0.72328	0.313	0.28774	0.5892461421	0.58599	0.5347842559508702	0.53403	0.304605667835	0.32764	0.743580460548	0.73499	T	0.058544	0.30870	T	-0.00828956	0.50504	T	-0.0130153	0.69488	D	0.2120021879673	0.21058	T	0.749925	0.37107	T	0.24542314	0.47501	0.1236848	0.29823	0.24542314	0.47501	0.1236848	0.29822	-6.312	0.48817	T	.	.	0.191	0.41016	B	.	.	3.971235	0.58314	24.0	0.98536482690012483	0.42657	0.42932	0.26987	N	AEFBI	0.070935	0.14099	N	0.312195611577641	0.56773	3.842726	0.314221267809583	0.56376	3.800712	0.994778845429694	0.33794	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	1.491000	0.35192	7.527000	0.59855	0.599000	0.40250	0.953000	0.33222	1.000000	0.68203	0.247000	0.23184	0.3051:0.6949:0.0:0.0	10.853	0.45988	36	0.98055	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	479.43	36	chr16	30979498	.	C	T	479.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.811;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=0.801;SOR=0.628	GT:AD:DP:GQ:PL	0/1:37,21:58:99:491,0,975	9	0	1	0
chr16	53470165	53470165	C	T	exonic	RBL2	.	nonsynonymous SNV	RBL2:NM_001323608:exon15:c.C2225T:p.T742M,RBL2:NM_001323609:exon15:c.C2225T:p.T742M,RBL2:NM_001323610:exon15:c.C2225T:p.T742M,RBL2:NM_001323611:exon15:c.C2003T:p.T668M,RBL2:NM_005611:exon15:c.C2225T:p.T742M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.263521370022	.	.	1.687e-05	0	0	0	0	1.517e-05	0	6.836e-05	1.29e-05	2	154602	rs777931235	1.098e-05	1.3e-05	1.227e-05	9.669e-06	2.996e-05	6.5e-06	5.26e-06	5.33e-06	3.89e-06	2.996e-05	2.242e-05	3.85e-05	0	0	0	9.924e-06	1.663e-05	1.162e-05	1.314e-05	1.313e-05	0	2.691e-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	0.027	0.46513	D	0.038	0.51421	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999091	0.81001	D	1.87	0.49600	L	-2.68	0.90391	D	-1.78	0.42001	N	0.768	0.76573	0.740	0.93664	D	0.832	0.94352	D	10	0.8188579	0.81103	D	0.263521	0.89602	D	0.524	0.79825	0.298	0.26362	0.786763095636	0.78479	0.5156825504440566	0.51491	0.805681720929	0.66455	0.750110864639	0.74463	T	0.16554	0.51143	T	0.0541398	0.58873	T	0.0215196	0.71729	D	0.646692216396332	0.38321	D	0.96937	0.88985	D	0.13153195	0.30655	0.18174174	0.41057	0.13153195	0.30655	0.18174174	0.41056	-6.786	0.52455	T	.	.	0.310	0.53800	B	.	.	5.194406	0.87129	29.1	0.99877463955750811	0.95410	0.94630	0.61795	D	AEFBHCI	0.653111	0.62626	D	0.791928824549312	0.85599	8.624086	0.804904082768944	0.90132	10.27036	0.999999774733222	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	5.591000	0.67229	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.644	0.99572	408	0.82256	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	855.43	40	chr16	53470165	.	C	T	855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=427;ExcessHet=0;FS=7.115;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=1.98;SOR=1.591	GT:AD:DP:GQ:PL	0/1:29,32:61:99:867,0,716	9	0	1	0
chr16	57987415	57987415	C	T	exonic	TEPP	.	nonsynonymous SNV	TEPP:NM_199046:exon8:c.C721T:p.P241S,TEPP:NM_199456:exon8:c.C640T:p.P214S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.107696716452	.	.	1.939e-05	0	0	0	0	3.546e-05	0	0	6.5e-06	1	154602	rs755528485	4.151e-06	4.788e-06	4.123e-06	4.179e-06	2.323e-05	1.49e-06	9.8e-07	8.5e-07	5.7e-07	0	2.323e-05	0	0	0	0	3.62e-06	1.673e-05	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.015	0.52492	D	0.018	0.59732	D	1.0	0.90584	D	0.998	0.88582	D	0.000013	0.62929	D	0.000000	0.717723	0.33584	D	2.665	0.77964	M	0.16	0.60610	T	-3.23	0.65056	D	0.171	0.18376	-0.0177	0.81886	T	0.377	0.73468	T	10	0.34204376	0.51243	T	0.107697	0.78389	D	0.215	0.50805	0.297	0.26202	0.749393882446	0.74713	0.3525120005614175	0.35165	0.83318183298	0.67713	0.473964631557	0.35226	T	0.189362	0.54356	T	0.00210693	0.51945	T	-0.23475	0.51309	T	0.919497728347778	0.57823	D	0.651035	0.31322	T	0.2011726	0.42119	0.25051942	0.50645	0.2011726	0.42118	0.25051942	0.50644	-3.445	0.15670	T	.	.	0.321	0.63528	B	.;.	.;.	4.379887	0.67501	25.1	0.99911311629750965	0.98095	0.64760	0.32512	D	AEFBI	0.168940	0.29573	N	0.550148104459464	0.70091	5.450873	0.460497169490532	0.65393	4.818204	0.99999448825184	0.74766	0.623552	0.39893	0	0.547309	0.14657	0	0.577349	0.28860	0	0.579976	0.35079	0	.	.	4.59	4.59	0.56297	1.528000	0.35592	7.248000	0.57921	0.589000	0.31548	0.173000	0.23973	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	13.095	0.58598	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1897.43	34	chr16	57987415	.	C	T	1897.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.974;DP=469;ExcessHet=0;FS=2.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=2.57;SOR=0.529	GT:AD:DP:GQ:PL	0/1:69,79:148:99:1909,0,1568	9	0	1	0
chr16	64948685	64948685	C	A	exonic	CDH11	.	nonsynonymous SNV	CDH11:NM_001308392:exon13:c.G1997T:p.R666I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0094654037705	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs768409959	6.871e-07	2.053e-06	1.366e-06	0	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.33	0.58323	T	-2.16	0.48850	N	0.228	0.25622	-0.9753	0.36059	T	0.129	0.43787	T	8	0.12868133	0.24479	T	0.009465	0.24786	T	0.164	0.42212	0.575	0.69957	0.411411441165	0.40760	.	.	.	.	.	.	.	.	.	.	-0.259695	0.12936	T	-0.610811	0.11918	T	0.0964033924645899	0.11956	T	0.40416	0.10358	T	.	.	.	.	.	.	.	.	-3.039	0.10607	T	.	.	0.151	0.33458	B	.	.	0.026679	0.04469	1.187	0.89913335390322258	0.19213	0.01119	0.04084	N	AEFBI	0.040207	0.05947	N	-1.62783212799626	0.01132	0.0491679	-1.79670344964322	0.00770	0.03432799	0.999999891180091	0.74766	0.600919	0.35232	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620204	0.46100	0	.	.	3.64	-7.27	0.01312	-0.098000	0.10993	-2.611000	0.03550	-1.148000	0.01430	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2722:0.6147:0.1131:0.0	11.798	0.51384	543	0.72751	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1211.43	33	chr16	64948685	.	C	A	1211.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.434;DP=433;ExcessHet=0;FS=1.512;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.766;SOR=0.549	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1223,0,1439	9	0	1	0
chr16	67652479	67652479	G	A	exonic	CARMIL2	.	nonsynonymous SNV	CARMIL2:NM_001013838:exon28:c.G2825A:p.S942N,CARMIL2:NM_001317026:exon29:c.G2717A:p.S906N	.	433	1073	14	2	0	18	0.00831793	.	.	.	1157787	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.060	.	8e-05	0.014976	0.0106	0.0001	0.0004	0	0.0002	6.141e-05	0.0081	0.0769	0.0088938	1375	154602	rs372932175	0.0044	0.0044	0.0024	0.0065	0.0721	0.0044	0.0043	0.0706	0.0699	8.962e-05	2.237e-05	0.0005	5.038e-05	0	0.0014	2.698e-05	0.0038	0.0721	0.0022	0.0023	0.0011	0.0035	0.0687	0.0021	0.0020	0.0626	0.0602	0.0001	0	0.0001	0	0	0	0	1.47e-05	0.0014	0.0687	0.287	0.24090	T	0.358	0.17064	T	0.18	0.29046	B	0.056	0.26147	B	0.000310	0.00561	U	6.097970	0.999998	0.08975	N	.	.	.	2.61	0.13095	T	-0.76	0.21215	N	0.159	0.21056	-1.0373	0.18140	T	0.037	0.15943	T	10	0.0019447505	0.00027	T	.	.	.	0.060	0.17295	.	.	.	.	0.12855300607498168	0.12780	0.164794538668	0.18593	0.265383541584	0.05548	T	0.021559	0.16767	T	-0.687812	0.00043	T	-0.70651	0.05477	T	0.0115249985081326	0.00174	T	0.49835	0.15517	T	0.05509734	0.10661	0.062686674	0.12302	0.05270631	0.09870	0.062686674	0.12301	-6.062	0.46795	T	0.21355687140080465	0.28678	0.090	0.12560	B	.;.	.;.	1.485733	0.19121	14.10	0.98005277828551618	0.37513	0.03977	0.09390	N	AEFDGBCI	0.113088	0.22328	N	-0.457278597782386	0.23495	1.262057	-0.452157800880666	0.23488	1.281148	0.999997807865729	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	4.29	3.25	0.36363	0.554000	0.23113	0.366000	0.17626	-0.106000	0.15538	0.001000	0.13787	0.000000	0.08366	0.715000	0.34611	0.0:0.0:0.7763:0.2237	8.841	0.34301	44	0.97806	CARMIL, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.000000	0.005882	0.000000	0.000000	0.003049	0.045455	0.1	3109.14	34	chr16	67652479	.	G	A	3109.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.07;DP=561;ExcessHet=0.2348;FS=3.474;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.096;SOR=0.907	GT:AD:DP:GQ:PL	0/1:65,72:137:99:1817,0,1700	8	0	2	0
chr16	67657672	67657672	C	G	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon12:c.G1311C:p.Q437H,ACD:NM_022914:exon12:c.G1302C:p.Q434H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0311390190662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.92824	D	0.969	0.60036	D	0.62	0.57669	P	0.336952	0.14024	N	0.649555	0.829762	0.28775	N	2.36	0.67893	M	.	.	.	.	.	.	0.442	0.49965	-0.9764	0.35816	T	0.129	0.43686	T	10	0.45340052	0.58840	T	0.031139	0.53292	D	0.226	0.52472	0.747	0.87821	0.493089126863	0.48943	0.3165098618646812	0.31563	0.388317512424	0.40095	0.376372456551	0.21742	T	0.595732	0.86970	D	-0.0940348	0.37410	T	-0.372851	0.36556	T	0.883783161640167	0.53398	D	0.781422	0.41649	T	0.374305	0.58901	0.191424	0.42600	0.374305	0.58901	0.191424	0.42599	.	.	.	0.6761204448583776	0.75184	0.336	0.56520	B	.;.;.;.;.;.	.;.;.;.;.;.	2.836690	0.37416	20.5	0.99677149233791107	0.78977	0.81381	0.40796	D	AEFDGBCI	0.181212	0.30853	N	0.0060398995760533	0.42129	2.532622	-0.0285759514601778	0.38431	2.264012	0.999952230129422	0.48110	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.15	2.16	0.26663	0.842000	0.27280	0.227000	0.16144	-0.257000	0.07002	0.001000	0.13787	0.975000	0.29991	0.922000	0.45779	0.0:0.7205:0.0:0.2795	7.217	0.25143	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1322.43	95	chr16	67657672	.	C	G	1322.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.781;DP=507;ExcessHet=0;FS=3.061;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-1.426;SOR=1.157	GT:AD:DP:GQ:PL	0/1:32,50:82:99:1334,0,807	9	0	1	0
chr16	67990129	67990129	C	A	exonic	DPEP2	.	nonsynonymous SNV	DPEP2:NM_001324159:exon6:c.G438T:p.K146N,DPEP2:NM_001369657:exon7:c.G912T:p.K304N,DPEP2:NM_022355:exon8:c.G912T:p.K304N	.	430	1077	13	2	0	17	0.00783049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	7.7e-05	0.00998403	0.0082	9.623e-05	0.0003	0	0.0002	4.5e-05	0.0077	0.0592	0.0069081	1068	154602	rs372203515	0.0035	0.0035	0.0018	0.0052	0.0564	0.0034	0.0034	0.0551	0.0545	8.961e-05	2.236e-05	0.0005	2.519e-05	0	0.0012	2.248e-05	0.0027	0.0564	0.0017	0.0017	0.0008	0.0026	0.0513	0.0015	0.0015	0.0461	0.0440	0.0001	0	0.0001	0	0	0	0	0	0.0005	0.0513	0.092	0.31682	T	0.184	0.29056	T	0.037	0.20876	B	0.086	0.29521	B	0.000004	0.62929	D	0.102807	0.993815	0.42062	D	2.53	0.73802	M	1.9	0.23486	T	-3.02	0.62630	D	0.57	0.59393	-1.0424	0.16592	T	0.080	0.31765	T	10	0.0039188564	0.00075	T	.	.	.	0.139	0.37390	0.563	0.68364	0.282179105231	0.27821	0.6950166867755903	0.69442	.	.	0.512347817421	0.40550	T	0.12025	0.44235	T	-0.510656	0.00498	T	-0.464563	0.26104	T	0.0553607323189366	0.06418	T	0.940306	0.77652	D	0.30536777	0.53381	0.4052117	0.64928	0.30536777	0.53381	0.4052117	0.64928	-7.755	0.59389	D	.	.	0.455	0.68416	A	.;.;.	.;.;.	3.024635	0.40491	21.2	0.98244671894312474	0.39512	0.82247	0.41503	D	AEFBHCI	0.485849	0.52527	N	-0.333708933791181	0.27876	1.532926	-0.280359733264758	0.28744	1.605133	0.999999782038535	0.74766	0.533608	0.22052	0	0.26897	0.04874	2	0.59043	0.30614	0	0.638833	0.57524	0	.	.	4.55	3.55	0.39770	1.037000	0.29850	0.595000	0.19862	-0.313000	0.06017	1.000000	0.71638	0.997000	0.33255	0.258000	0.23468	0.0:0.8814:0.0:0.1186	7.842	0.28565	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	0.008560	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.041667	0.05	1851.43	34	chr16	67990129	.	C	A	1851.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.115;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.21;SOR=0.658	GT:AD:DP:GQ:PL	0/1:90,76:166:99:1863,0,2257	9	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q,CDH1:NM_001317186:exon13:c.G307C:p.E103Q,CDH1:NM_001317185:exon14:c.G724C:p.E242Q,CDH1:NM_004360:exon14:c.G2272C:p.E758Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	66.61	151	chr16	68828281	.	G	C	66.61	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.294;DP=1213;ExcessHet=0.7463;FS=192.644;InbreedingCoeff=-0.3149;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=0.39;SOR=9.419	GT:AD:DP:GQ:PL	0/1:95,27:137:20:20,0,1744	3	0	3	4
chr16	71230632	71230632	-	C	exonic	HYDIN	.	frameshift insertion	HYDIN:NM_001198542:exon1:c.55dupG:p.V19Gfs*3	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	901.39	46	chr16	71230632	.	A	AC	901.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.336;DP=425;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.028;SOR=0.678	GT:AD:DP:GQ:PL	0/1:52,37:89:99:913,0,1438	9	0	1	0
chr16	71475808	71475808	A	G	exonic	ZNF19	.	nonsynonymous SNV	ZNF19:NM_006961:exon6:c.T739C:p.C247R	.	.	.	.	.	.	.	.	.	.	.	4106240	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.659	0.0296909734841	7.7e-05	.	9.889e-05	0	0	0	0	2.998e-05	0	0.0006	7.76e-05	12	154602	rs369556832	4.518e-05	4.517e-05	2.725e-05	6.33e-05	0.0005	3.544e-05	3.324e-05	0.0004	0.0004	0	0	0	0	0	0.0003	1.08e-05	8.286e-05	0.0005	2.633e-05	2.628e-05	1.287e-05	4.043e-05	0.0004	8.15e-06	5.15e-06	7.321e-05	3.04e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001650	0.38382	N	0.000000	0.999999	0.81001	D	3.675	0.94400	H	-1.96	0.85091	D	-11.68	0.99515	D	0.7	0.79310	0.804	0.94458	D	0.818	0.93877	D	10	0.94840133	0.94169	D	0.029691	0.52149	D	0.659	0.87234	.	.	0.95093717928	0.95041	0.2611136999125787	0.26024	0.323920903238	0.34550	0.77602648735	0.78328	T	0.572556	0.85871	D	0.107391	0.65081	D	0.265914	0.86369	D	0.718610167503357	0.41629	D	0.738626	0.38756	T	0.96781063	0.98053	0.96569145	0.99265	0.96781063	0.98053	0.96569145	0.99266	-11.602	0.82858	D	.	.	0.984	0.91928	P	.;.;.;.	.;.;.;.	3.772198	0.54193	23.5	0.98263434054745036	0.39685	0.99274	0.93794	D	AEFGBI	0.918205	0.88692	D	0.622424644777063	0.74596	6.159414	0.373092007386679	0.59912	4.173156	0.999999999381263	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	3.4	3.4	0.38031	9.050000	0.93297	7.400000	0.58569	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.054000	0.15518	1.0:0.0:0.0:0.0	10.470	0.43819	264	0.89640	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1735.43	92	chr16	71475808	.	A	G	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.097;DP=1106;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.129;SOR=0.697	GT:AD:DP:GQ:PL	0/1:75,73:148:99:1747,0,1995	9	0	1	0
chr16	71850417	71850417	G	A	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.G677A:p.R226Q	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	.	.	0.00359425	0.0086	0.0014	0.0123	0	0	0.0006	0.0105	0.0193	0.0013066	202	154602	rs147505763	0.0014	0.0014	0.0008	0.0020	0.0191	0.0014	0.0013	0.0183	0.0180	3.165e-05	0.0003	7.942e-05	0	0.0001	0.0035	0.0003	0.0014	0.0191	0.0007	0.0007	0.0004	0.0011	0.0176	0.0006	0.0006	0.0146	0.0135	4.813e-05	0	6.538e-05	0	0	9.423e-05	0	0.0003	0.0005	0.0176	0.238	0.17821	T	0.611	0.07666	T	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.914671	0.27430	N	1.445	0.36358	L	1.42	0.33189	T	0.88	0.01664	N	0.316	0.35620	-0.9982	0.30423	T	0.111	0.39888	T	9	0.0040242374	0.00078	T	.	.	.	0.231	0.53208	.	.	0.27132560031	0.26736	0.394877748054683	0.39402	.	.	0.472686946392	0.35050	T	7.7E-4	0.00369	T	-0.341534	0.05281	T	-0.249087	0.49907	T	0.0258004732453649	0.01379	T	0.825917	0.48908	T	0.09584715	0.22566	0.13532075	0.32402	0.09584715	0.22565	0.13532075	0.32401	-2.471	0.05586	T	.	.	0.102	0.18164	B	.	.	4.016529	0.59292	24.1	0.99779433441165644	0.86606	0.91905	0.54517	D	AEFBCI	0.560476	0.56887	D	0.452330450445879	0.64335	4.685708	0.509008187207464	0.68595	5.241779	0.999929681210294	0.46280	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	6.573000	0.73899	11.772000	0.95887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.217	0.93768	83	0.96533	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.006024	0.000000	0.000000	0.026316	0.006098	0.012195	0.05	3046.43	35	chr16	71850417	.	G	A	3046.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=509;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.815;SOR=0.769	GT:AD:DP:GQ:PL	0/1:70,107:177:99:3058,0,1703	9	0	1	0
chr16	71951599	71951599	C	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon19:c.G3155C:p.G1052A	.	427	1090	4	1	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0025	0	0.0024	0	0	0.0003	0	0.0063	0.0003946	61	154602	rs533212808	0.0012	0.0011	0.0009	0.0014	0.0066	0.0011	0.0011	0.0061	0.0059	0.0003	0.0002	0	2.798e-05	0.0002	0.0005	0.0009	0.0011	0.0066	0.0006	0.0006	0.0005	0.0008	0.0058	0.0005	0.0005	0.0041	0.0036	7.217e-05	0	0.0006	0	0	0	0	0.0008	0.0005	0.0058	.	.	.	0.033	0.53072	D	0.017	0.17573	B	0.024	0.20255	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.08366	.	.	.	.	.	.	.	0.0049215555	0.00105	T	.	.	.	.	.	.	.	0.117506650769	0.11410	0.15455848920514773	0.15376	.	.	0.305610507727	0.11244	T	0.035991	0.23931	T	-0.376769	0.03264	T	-0.31206	0.43437	T	.	.	.	0.523348	0.17107	T	0.112612344	0.26602	0.37521762	0.62671	0.112612344	0.26602	0.37521762	0.62670	-3.642	0.18466	T	.	.	0.097	0.15832	B	.	.	1.997066	0.25376	16.74	0.69910934313579332	0.09124	0.16621	0.19473	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.650624211729595	0.22159	0.080785	0.02172	0	0.060609	0.00678	0	0.056003	0.00319	0	0.10565	0.03146	0	0.881367	0.54877	4.44	4.44	0.53164	2.975000	0.48972	2.965000	0.35773	0.587000	0.30956	0.119000	0.23158	0.074000	0.22270	0.419000	0.27206	0.0:1.0:0.0:0.0	12.919	0.57614	78	0.96748	.	.	.	.	.	.	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	0.001211	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	560.43	35	chr16	71951599	.	C	G	560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.449;DP=363;ExcessHet=0;FS=1.025;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.247;SOR=0.842	GT:AD:DP:GQ:PL	0/1:35,24:59:99:572,0,909	9	0	1	0
chr16	75612562	75612562	T	G	exonic	ADAT1	.	nonsynonymous SNV	ADAT1:NM_001324452:exon5:c.A463C:p.T155P,ADAT1:NM_001324453:exon5:c.A463C:p.T155P,ADAT1:NM_001324445:exon6:c.A724C:p.T242P,ADAT1:NM_001324449:exon6:c.A724C:p.T242P,ADAT1:NM_001324451:exon6:c.A277C:p.T93P,ADAT1:NM_001324444:exon7:c.A277C:p.T93P,ADAT1:NM_001324446:exon7:c.A277C:p.T93P,ADAT1:NM_001324448:exon7:c.A724C:p.T242P,ADAT1:NM_001324450:exon7:c.A277C:p.T93P,ADAT1:NM_012091:exon7:c.A724C:p.T242P	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0005	0.00459265	0.0029	0.0003	0.0002	0.0349	0.0002	0.0004	0.0044	0.0010	0.0026843	415	154602	rs3743600	0.0016	0.0016	0.0016	0.0017	0.0353	0.0016	0.0015	0.0338	0.0332	0.0002	0.0001	0	0.0353	0.0005	0.0007	0.0005	0.0038	0.0015	0.0017	0.0017	0.0015	0.0019	0.0338	0.0015	0.0015	0.0297	0.0281	0.0005	0	0.0003	0	0.0338	0.0007	0	0.0004	0.0033	0.0025	0.16	0.23721	T	0.244	0.24123	T	0.583	0.38873	P	0.212	0.37394	B	0.000000	0.00162	N	18.758900	1	0.08975	N	2.42	0.70002	M	2.49	0.14531	T	-0.59	0.17624	N	0.071	0.04426	-1.0975	0.04407	T	0.012	0.04700	T	10	0.0031453073	0.00053	T	.	.	.	0.090	0.26093	.	.	0.0551355673512	0.04727	0.33632819823393095	0.33545	0.0075858458663	0.00669	0.23508092761	0.02365	T	0.066783	0.33034	T	-0.638037	0.00086	T	-0.659286	0.08315	T	0.0186225637036783	0.00576	T	0.153785	0.01329	T	0.07790278	0.17710	0.087956086	0.20477	0.07790278	0.17709	0.087956086	0.20477	-2.713	0.07413	T	.	.	0.066	0.02091	B	.	.	-3.037599	0.00009	0.001	0.60796076773209151	0.06550	0.04821	0.10546	N	AEFBI	0.164437	0.29083	N	-1.73888137634891	0.00713	0.03076936	-1.96792140270622	0.00357	0.01577895	0.999999570996067	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	-10.4	0.00257	-7.035000	0.00058	-14.292000	0.00411	-1.007000	0.01781	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1701:0.4997:0.0805:0.2497	5.487	0.16046	550	0.72197	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2403.43	37	chr16	75612562	.	T	G	2403.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.299;DP=536;ExcessHet=0;FS=2.521;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.807;SOR=0.689	GT:AD:DP:GQ:PL	0/1:93,94:187:99:2415,0,2434	9	0	1	0
chr16	77816980	77816980	C	T	exonic	VAT1L	.	nonsynonymous SNV	VAT1L:NM_020927:exon2:c.C293T:p.T98I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0273777614727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.08787	T	0.469	0.12281	T	0.884	0.48618	P	0.549	0.49194	P	0.000000	0.84330	D	0.046922	1	0.81001	D	0.945	0.23706	L	1.01	0.41058	T	-2.06	0.47175	N	0.63	0.64393	-1.0795	0.07446	T	0.096	0.36185	T	10	0.53202933	0.63238	D	0.027378	0.50196	D	0.203	0.48915	0.463	0.53242	0.508696012846	0.50510	0.673707980201549	0.67308	0.262508907343	0.28810	0.855479001999	0.90438	D	0.05871	0.30917	T	-0.0716425	0.41064	T	-0.340686	0.40267	T	0.663972139363623	0.39070	D	0.957604	0.84033	D	0.42025366	0.62108	0.2996911	0.56003	0.42025366	0.62109	0.2996911	0.56002	-8.089	0.61676	D	.	.	0.306	0.53464	B	.	.	4.287191	0.65350	24.8	0.99521345835982744	0.69284	0.97918	0.78116	D	AEFGBIJ	0.891613	0.82774	D	0.346516484482016	0.58556	4.028545	0.467023106678538	0.65816	4.87202	0.999999999999409	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.616125	0.45549	0	.	.	5.63	5.63	0.86108	7.568000	0.81546	7.623000	0.62394	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.287	0.94069	937	0.14592	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	99.14	34	chr16	77816980	.	C	T	99.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.193;DP=524;ExcessHet=0.2348;FS=206.329;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.514;SOR=8.254	GT:AD:DP:GQ:PL	0/1:76,27:103:76:76,0,1365	8	0	2	0
chr16	85918797	85918797	T	G	exonic	IRF8	.	nonsynonymous SNV	IRF8:NM_001363908:exon5:c.T370G:p.F124V,IRF8:NM_001363907:exon7:c.T1012G:p.F338V,IRF8:NM_002163:exon7:c.T982G:p.F328V	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive	0	1501	19	2	0	23	0.00760331	.	.	.	486158	not_provided|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency|Immunodeficiency_32B|IRF8-related_disorder	MedGen:C3661900|MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600|MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.351	0.20769611581	0.0002	0.000998403	0.0012	0.0002	0.0004	0.0001	0	0.0003	0.0023	0.0070	0.001009	156	154602	rs202046728	0.0006	0.0006	0.0004	0.0008	0.0055	0.0006	0.0005	0.0051	0.0049	0.0001	0.0005	0	2.519e-05	0	0.0047	0.0002	0.0009	0.0055	0.0005	0.0005	0.0004	0.0005	0.0050	0.0004	0.0003	0.0034	0.0029	0.0002	0	0.0010	0	0	0	0.0034	0.0003	0.0005	0.0050	0.02	0.55530	D	0.037	0.67890	D	0.001	0.07471	B	0.009	0.14300	B	0.009152	0.30494	N	0.401655	0.619357	0.30793	N	1.605	0.40863	L	-3.19	0.93170	D	0.35	0.05035	N	0.425	0.46649	-0.2654	0.75939	T	0.632	0.87102	D	10	0.0115574	0.00261	T	0.207696	0.87107	D	0.351	0.67234	.	.	0.658593015935	0.65573	0.3841033044616251	0.38325	0.749371048524	0.63688	0.463641107082	0.33810	T	0.517141	0.83044	D	-0.232603	0.16306	T	-0.105252	0.62988	T	0.0275112459255449	0.01618	T	0.713829	0.33319	T	0.08052185	0.18456	0.0643025	0.12868	0.06332419	0.13322	0.05643354	0.10080	-3.422	0.15354	T	0.16528918988687305	0.20481	0.161	0.46700	B	.;.;.;.	.;.;.;.	2.953947	0.39315	20.9	0.97486410063945161	0.34219	0.81664	0.41023	D	AEFGBHCI	0.386683	0.46695	N	-0.439020089020507	0.24114	1.299763	-0.355132035847008	0.26351	1.454916	0.997251064563144	0.35425	0.645754	0.44609	0	0.696144	0.67643	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.1	0.112	0.13929	0.296000	0.18839	0.261000	0.16544	0.665000	0.62972	0.974000	0.34632	0.996000	0.32793	0.974000	0.55675	0.253:0.2889:0.0:0.4582	3.736	0.08035	969	0.06854	Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.017241	0.006098	0.003788	0.05	1090.43	33	chr16	85918797	.	T	G	1090.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=436;ExcessHet=0;FS=3.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.081;SOR=1.06	GT:AD:DP:GQ:PL	0/1:74,46:120:99:1102,0,1819	9	0	1	0
chr16	87334102	87334102	C	T	exonic	FBXO31	.	nonsynonymous SNV	FBXO31:NM_024735:exon8:c.G1181A:p.R394Q,FBXO31:NM_001282683:exon9:c.G665A:p.R222Q	.	407	1077	36	2	0	40	0.0182315	.	.	.	363776	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0031	0.00499201	0.0073	0.0010	0.0009	0	0.0080	0.0065	0.0149	0.0210	0.0061966	958	154602	rs34412175	0.0057	0.0057	0.0052	0.0063	0.0213	0.0056	0.0056	0.0205	0.0202	0.0010	0.0013	0.0027	2.524e-05	0.0083	0.0082	0.0050	0.0048	0.0213	0.0041	0.0041	0.0038	0.0044	0.0255	0.0038	0.0037	0.0218	0.0204	0.0009	0.0055	0.0020	0.0029	0	0.0064	0	0.0050	0.0047	0.0255	0.681	0.04417	T	0.628	0.07244	T	0.001	0.07471	B	0.0	0.01387	B	0.468824	0.04914	N	1.339340	1	0.08975	N	0.145	0.08828	N	.	.	.	-0.23	0.10656	N	0.151	0.16586	-0.9968	0.30810	T	0.032	0.13767	T	9	0.0034515262	0.00061	T	.	.	.	0.023	0.04649	.	.	0.332276917938	0.32835	0.1664556576959302	0.16565	0.946797189832	0.72441	0.551140546799	0.46018	T	0.046748	0.27518	T	-0.58606	0.00177	T	-0.598355	0.12950	T	0.00308901087855757	0.00032	T	0.584642	0.21576	T	0.020204976	0.00571	0.031183796	0.01673	0.021092037	0.00694	0.029805074	0.01359	-2.828	0.08444	T	.	.	0.058	0.00625	B	.;.	.;.	-0.833436	0.01043	0.044	0.88303682295588026	0.17872	0.03603	0.08832	N	AEFDBCI	0.055012	0.10052	N	-2.1869927052836	0.00082	0.003508921	-2.27788948086742	0.00074	0.003268579	0.999999996461227	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.38	-8.75	0.00721	-3.085000	0.00674	-12.326000	0.00533	-1.076000	0.01581	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5487:0.3183:0.1331	12.006	0.52550	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010070	0.000000	0.004076	0.005848	0.000000	0.008621	0.009146	0.037879	0.05	786.43	33	chr16	87334102	.	C	T	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.35;DP=383;ExcessHet=0;FS=4.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.204;SOR=1.323	GT:AD:DP:GQ:PL	0/1:41,30:71:99:798,0,976	9	0	1	0
chr16	88436838	88436838	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G9368A:p.R3123H	Brittle cornea syndrome 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	409765	not_provided|Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.371	0.18832904981	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs536601676	0.0006	0.0007	0.0006	0.0006	0.0002	0.0006	0.0005	5.333e-05	4.896e-05	3.181e-05	0	0	0	0.0193	0.0002	6.599e-05	0.0006	0	0.0015	0.0015	0.0008	0.0023	0.0002	0.0014	0.0013	0.0001	8.877e-05	0	0	0	0	0	0.0206	0	0.0002	0.0005	0	0.064	0.37536	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.988353	0.40749	D	.	.	.	0.14	0.60854	T	-2.15	0.49352	N	0.142	0.17416	-0.6934	0.60749	T	0.286	0.65802	T	9	0.008793712	0.00199	T	0.188329	0.85994	D	0.371	0.69016	.	.	0.417586769301	0.41374	0.19630781765376662	0.19547	.	.	0.514157891273	0.40804	T	0.028803	0.20781	T	-0.218526	0.18195	T	-0.193093	0.55300	T	0.0920900458757632	0.11463	T	0.764624	0.39166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.32992	B	.;.	.;.	4.453664	0.69252	25.3	0.99606916379938915	0.74575	0.98095	0.79555	D	AEFDGBI	0.869352	0.78984	D	0.387541226434186	0.60746	4.267034	0.355649533429916	0.58849	4.05814	0.999999999997299	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.85	4.85	0.62375	7.898000	0.85965	6.463000	0.55698	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:0.0:1.0:0.0	16.948	0.86104	.	.	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	650.43	47	chr16	88436838	.	G	A	650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.866;DP=438;ExcessHet=0;FS=0.999;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.687;SOR=0.488	GT:AD:DP:GQ:PL	0/1:40,24:64:99:662,0,1092	9	0	1	0
chr17	746331	746331	T	C	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.A1712G:p.N571S	.	424	1077	20	1	0	22	0.0101103	.	.	.	704357	GEMIN4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.295	.	0.0056	0.00559105	0.0048	0.0018	0.0030	0.0008	0.0011	0.0061	0.0011	0.006	0.0047218	730	154602	rs111822058	0.0059	0.0059	0.0059	0.0060	0.0116	0.0058	0.0058	0.0094	0.0086	0.0018	0.0040	0.0020	0.0003	0.0013	0.0116	0.0065	0.0067	0.0067	0.0043	0.0043	0.0042	0.0044	0.0085	0.0040	0.0039	0.0064	0.0057	0.0020	0.0088	0.0045	0.0020	0.0008	0.0004	0.0136	0.0062	0.0047	0.0085	0.028	0.46129	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.045268	0.999373	0.46831	D	2.535	0.73915	M	2.54	0.13916	T	-4.79	0.80595	D	0.226	0.28146	-1.1212	0.02257	T	0.064	0.26562	T	10	0.010183573	0.00228	T	.	.	.	0.295	0.61502	.	.	0.448696893172	0.44491	0.5651595224238298	0.56442	0.118032548597	0.13290	0.363972395658	0.19962	T	0.237833	0.60560	T	-0.488685	0.00661	T	-0.470733	0.25436	T	0.0870820286598924	0.10868	T	0.816218	0.47186	T	0.29135194	0.52118	0.18160953	0.41036	0.24770755	0.47751	0.18829678	0.42112	-2.841	0.08567	T	.	.	0.095	0.14797	B	.;.	.;.	1.978345	0.25134	16.65	0.99740898629905883	0.83482	0.93597	0.58653	D	AEFBCI	0.368896	0.45583	N	0.344629667983594	0.58455	4.018016	0.241704223935639	0.52180	3.394476	0.699258657378525	0.22677	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	4.76	0.60189	2.820000	0.47757	-0.138000	0.11547	0.609000	0.47794	1.000000	0.71638	0.001000	0.17328	0.223000	0.22544	0.0:0.0716:0.0:0.9284	11.176	0.47828	942	0.12992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.005435	0.008772	0.050000	0.000000	0.021341	0.003788	0.05	2409.43	138	chr17	746331	.	T	C	2409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.992;DP=1384;ExcessHet=0;FS=0.496;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PL	0/1:121,96:217:99:2421,0,3053	9	0	1	0
chr17	1229402	1229402	G	A	exonic	ABR	.	nonsynonymous SNV	ABR:NM_001322841:exon1:c.C229T:p.P77S,ABR:NM_001322842:exon1:c.C229T:p.P77S	.	1068	451	3	0	0	3	0.00331492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs551274441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0002	0.0006	0.0109	0.0003	0.0003	0.0085	0.0077	0	0	0.0001	0	0	0	0	7.416e-05	0.0010	0.0109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061506927	0.00138	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242376	0.03494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.21766	B	.	.	0.630158	0.09986	6.740	0.95945513352115352	0.28256	0.02118	0.06262	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999996274955	0.74766	0.11394	0.02926	0	0.090139	0.02499	0	0.125351	0.03401	0	0.166187	0.04126	0	0.0562671	0.13264	4.05	-7.62	0.01154	-0.084000	0.11233	0.170000	0.15507	-1.102000	0.01507	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1719:0.4314:0.3967	7.307	0.25629	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	.	.	.	.	.	.	.	.	0.05	173.73	9	chr17	1229402	.	G	A	173.73	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.83;DP=86;ExcessHet=0;FS=0;InbreedingCoeff=-0.0754;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.2;SOR=0.631	GT:AD:DP:GQ:PL	0/1:5,7:12:99:185,0,104	9	0	1	0
chr17	4817149	4817149	A	G	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon17:c.A1705G:p.T569A,PLD2:NM_002663:exon17:c.A1705G:p.T569A	.	419	1085	18	0	0	18	0.00822669	.	.	.	755916	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.00592412599397	0.0007	0.00199681	0.0019	0.0005	0.0007	0	0.0041	0.0012	0.0033	0.0067	0.0017788	275	154602	rs137971062	0.0016	0.0017	0.0015	0.0018	0.0090	0.0016	0.0016	0.0071	0.0064	0.0001	0.0007	0.0035	0	0.0051	0.0090	0.0011	0.0027	0.0060	0.0014	0.0014	0.0013	0.0015	0.0060	0.0013	0.0012	0.0043	0.0037	0.0002	0	0.0016	0.0040	0	0.0049	0.0034	0.0012	0.0019	0.0060	0.444	0.09155	T	0.619	0.09555	T	0.001	0.07471	B	0.003	0.08700	B	0.000298	0.46274	D	0.223486	0.692358	0.30179	N	0.895	0.22405	L	1.98	0.31205	T	-0.52	0.16187	N	0.188	0.20528	-1.0537	0.13386	T	0.050	0.21339	T	10	0.008443952	0.00191	T	0.005924	0.15430	T	0.068	0.19811	.	.	0.465294738428	0.46155	0.3430681418602734	0.34219	0.135075783952	0.15223	0.470530569553	0.34753	T	0.047517	0.27747	T	-0.54391	0.00317	T	-0.551593	0.17174	T	0.0108779694914474	0.00155	T	0.69563	0.30512	T	0.13185768	0.30721	0.072045706	0.15499	0.13185768	0.30721	0.072045706	0.15498	-5.461	0.41502	T	.	.	0.067	0.04558	B	.;.;.	.;.;.	2.943240	0.39137	20.9	0.95190821469706288	0.26372	0.82474	0.41696	D	AEFBI	0.279556	0.39358	N	-0.175559590233012	0.34153	1.946061	-0.0383187549246351	0.37999	2.232655	4.46765553341721E-4	0.07004	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	2.128000	0.41668	11.229000	0.90032	0.756000	0.94297	0.979000	0.35152	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.750	0.51108	447	0.79583	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.002717	0.023392	0.050000	0.025862	0.012195	0.000000	0.05	2254.43	40	chr17	4817149	.	A	G	2254.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.245;DP=511;ExcessHet=0;FS=0.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.686;SOR=0.64	GT:AD:DP:GQ:PL	0/1:82,96:178:99:2266,0,2128	9	0	1	0
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V,SLC13A5:NM_001284509:exon2:c.A124G:p.I42V,SLC13A5:NM_177550:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	522.45	140	chr17	6707135	.	T	C	522.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.368;DP=1058;ExcessHet=0.7463;FS=128.46;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.637;SOR=9.657	GT:AD:DP:GQ:PL	0/1:126,37:163:99:354,0,3555	7	0	3	0
chr17	7743487	7743487	A	G	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_001303270:exon14:c.A2495G:p.Q832R	.	484	1037	1	0	0	1	0.000481928	.	.	.	3206713	DNAH2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00140679998608	.	0.00159744	0	0	0	0	0	0	0	0	0.0004204	65	154602	rs181090270	0.0020	0.0019	0.0021	0.0018	0.0041	0.0019	0.0018	0.0035	0.0032	0.0004	0.0041	6.173e-05	0	0.0001	0	0.0027	0.0020	1.942e-05	0.0017	0.0017	0.0020	0.0013	0.0029	0.0015	0.0014	0.0023	0.0022	0.0006	0	0.0029	0	0	0	0	0.0026	0.0057	0	.	.	.	0.407	0.14679	T	0.047	0.21998	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	2.24	0.17923	T	.	.	.	0.127	0.12055	-0.9657	0.38073	T	0.014	0.05513	T	7	0.008678377	0.00197	T	0.001407	0.02088	T	.	.	.	.	0.143124449307	0.13826	.	.	.	.	.	.	.	.	.	.	-0.647146	0.00075	T	-0.706348	0.05485	T	0.00128698988812138	0.00013	T	0.0987901	0.00733	T	.	.	.	.	.	.	.	.	-4.43	0.29961	T	.	.	0.113	0.22354	B	.	.	0.521134	0.08901	5.679	0.92574902681718074	0.22031	0.03868	0.09231	N	AEFGBCI	0.026530	0.02009	N	-1.09583471922023	0.06719	0.3101378	-1.24270647892088	0.05240	0.2491991	3.52656956866498E-4	0.06668	0.422189	0.06491	0	0.600433	0.49495	0	0.600433	0.31921	0	0.691587	0.68394	0	.	.	0.976	-0.539	0.11271	0.129000	0.15656	-0.486000	0.08890	0.399000	0.20540	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.5792:0.0:0.0:0.4208	2.767	0.04996	247	0.90334	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	201.45	12	chr17	7743487	.	A	G	201.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=108;ExcessHet=0;FS=3.424;InbreedingCoeff=-0.0541;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=1.06;SOR=2.179	GT:AD:DP:GQ:PL	0/1:5,6:11:99:213,0,140	9	0	1	0
chr17	7846860	7846862	ACC	-	exonic	KDM6B	.	nonframeshift deletion	KDM6B:NM_001080424:exon9:c.753_755del:p.P264del,KDM6B:NM_001348716:exon9:c.753_755del:p.P264del	.	.	.	.	.	.	.	.	.	.	.	1290061	not_specified|KDM6B-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	0.0034	0.0021	0.0803	0.0006	0.0039	0.0180	0.0056	0.0001617	25	154602	rs771440621	0.0060	0.0049	0.0061	0.0058	0.0867	0.0058	0.0058	0.0841	0.0831	0.0066	0.0025	0.0314	0.0867	0.0007	0.0039	0.0018	0.0129	0.0053	0.0084	0.0075	0.0073	0.0098	0.1173	0.0080	0.0078	0.1088	0.1054	0.0080	0	0.0031	0.0269	0.1173	0.0012	0	0.0017	0.0092	0.0103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	22926.5	69	chr17	7846859	.	TACC	T	22926.5	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=945;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=0;QD=25.31;ReadPosRankSum=-0.565;SOR=1.16	GT:AD:DP:GQ:PL	0/1:0,41:72:99:2904,1290,1338	9	0	1	0
chr17	8190006	8190006	C	G	exonic	BORCS6	.	nonsynonymous SNV	BORCS6:NM_017622:exon1:c.G135C:p.E45D	.	431	1071	18	2	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00319489	0.0036	0.0011	0	0	0	0.0089	0.0068	0.0010	0.0013648	211	154602	rs150061068	0.0069	0.0066	0.0071	0.0067	0.0128	0.0068	0.0068	0.0104	0.0096	0.0012	0.0051	0.0093	0	0.0019	0.0128	0.0080	0.0060	0.0011	0.0056	0.0056	0.0059	0.0052	0.0085	0.0053	0.0052	0.0080	0.0077	0.0011	0.0746	0.0061	0.0060	0	0.0023	0.0136	0.0085	0.0052	0.0004	0.125	0.27310	T	0.337	0.18178	T	0.001	0.07471	B	0.002	0.06944	B	0.978690	0.07826	N	1.011480	0.992954	0.23796	N	.	.	.	.	.	.	-0.4	0.13805	N	0.053	0.02462	-1.0513	0.14036	T	0.052	0.22230	T	9	0.002304107	0.00034	T	.	.	.	0.032	0.07718	0.085	0.00830	0.0297737177859	0.01360	0.041514215577226815	0.04096	.	.	.	.	.	0.015219	0.12811	T	-0.56078	0.00251	T	-0.567267	0.15701	T	0.00322562584797078	0.00034	T	0.39616	0.09972	T	0.18345293	0.39614	0.106888495	0.25722	0.18345293	0.39614	0.106888495	0.25721	-4.148	0.25995	T	.	.	0.122	0.25364	B	.	.	2.703800	0.35325	19.87	0.98046052755489688	0.37828	0.79552	0.39442	D	AEFDGBHCI	0.229668	0.35316	N	-0.347921726466887	0.27348	1.499767	-0.172241020791311	0.32563	1.853794	0.99999999267464	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	4.97	3.99	0.45527	1.536000	0.35678	1.309000	0.25526	0.524000	0.24156	0.510000	0.27033	0.999000	0.35428	0.814000	0.38357	0.0:0.819:0.181:0.0	11.501	0.49684	326	0.86709	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014223	0.005618	0.005556	0.026786	0.083333	0.000000	0.005376	0.022727	0.05	475.43	45	chr17	8190006	.	C	G	475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.047;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=0.236;SOR=0.662	GT:AD:DP:GQ:PL	0/1:34,23:57:99:487,0,833	9	0	1	0
chr17	8880727	8880727	G	A	exonic	PIK3R5	.	nonsynonymous SNV	PIK3R5:NM_001251852:exon18:c.C1397T:p.T466M,PIK3R5:NM_001251853:exon18:c.C1397T:p.T466M,PIK3R5:NM_001251855:exon18:c.C1397T:p.T466M,PIK3R5:NM_001142633:exon19:c.C2555T:p.T852M,PIK3R5:NM_001251851:exon19:c.C1397T:p.T466M,PIK3R5:NM_014308:exon19:c.C2555T:p.T852M	Ataxia-oculomotor apraxia 3, Autosomal recessive	408	1112	2	0	0	2	0.000898473	.	.	.	2406175	Ataxia_with_oculomotor_apraxia_type_3	MONDO:MONDO:0014084,MedGen:C3554690,OMIM:615217,Orphanet:64753	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0440062907178	0.0003	.	0.0002	0.0002	8.702e-05	0	0	0.0003	0	0.0002	0.0002523	39	154602	rs148129311	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0003	0.0003	2.987e-05	0.0002	0	0	1.873e-05	0.0007	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0001	0.0003	0.0002	4.81e-05	0	0.0005	0	0	0	0	0.0003	0	0.0002	0.085	0.32769	T	0.05	0.48080	T	0.7	0.41856	P	0.193	0.36509	B	0.248891	0.15553	N	0.667331	1	0.08975	N	0	0.06538	N	-1.12	0.77593	T	-0.08	0.08187	N	0.08	0.13484	-0.8948	0.48502	T	0.160	0.49397	T	10	0.05252403	0.05301	T	0.044006	0.61272	D	0.200	0.48430	.	.	0.134007934775	0.12933	0.18507601046411334	0.18425	0.81345045591	0.66836	0.30463501811	0.11096	T	0.171289	0.51935	T	-0.346147	0.04974	T	-0.433272	0.29565	T	0.0144643313686657	0.00293	T	0.359864	0.08266	T	0.020625982	0.00628	0.034706164	0.02585	0.020625982	0.00627	0.034706164	0.02585	-6.817	0.58464	T	0.10830117864355276	0.08913	0.068	0.03060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.473105	0.08429	5.183	0.63569607272807938	0.07258	0.16103	0.19233	N	AEFDBCI	0.301552	0.41004	N	-0.991556056152289	0.08783	0.4131583	-1.0772658222326	0.08148	0.3994175	8.91697150808222E-4	0.07974	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.17	-1.65	0.07849	0.118000	0.15436	-2.353000	0.03861	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.483:0.2387:0.2784	5.776	0.17547	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1173.43	37	chr17	8880727	.	G	A	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.72;DP=429;ExcessHet=0;FS=2.821;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.157;SOR=1.061	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1185,0,1201	9	0	1	0
chr17	10362383	10362383	G	A	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon4:c.C325T:p.R109C	.	0	1511	10	1	0	12	0.00395517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.884	.	7.7e-05	0.00319489	0.0018	9.61e-05	0.0002	0	0	8.99e-05	0.0011	0.0125	0.0015847	245	154602	rs200117357	0.0008	0.0008	0.0004	0.0012	0.0119	0.0008	0.0007	0.0113	0.0111	0.0001	2.236e-05	0	5.038e-05	0	0.0028	6.025e-05	0.0008	0.0119	0.0005	0.0005	0.0003	0.0007	0.0129	0.0004	0.0004	0.0103	0.0094	7.221e-05	0	0	0	0	0	0	0.0001	0	0.0129	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.99998	0.54805	D	3.645	0.94141	H	-1.92	0.84773	D	-6.22	0.90450	D	0.968	0.99100	1.080	0.98874	D	0.890	0.96345	D	9	0.037470937	0.02103	T	.	.	.	0.884	0.96614	.	.	0.924345301417	0.92358	0.7772875182400795	0.77678	0.583304359763	0.54049	0.907635331154	0.97242	D	0.85379	0.96695	D	0.096669	0.63931	D	0.377113	0.91325	D	0.212363624355918	0.21076	T	0.957504	0.83996	D	0.563561	0.70706	0.5261682	0.72624	0.563561	0.70707	0.5261682	0.72625	-13.168	0.90043	D	.	.	0.923	0.85851	P	.;.;.	.;.;.	5.246658	0.88089	29.5	0.99933971851284487	0.99535	0.96308	0.68506	D	AEFGBI	0.871856	0.79345	D	0.918980047670162	0.92657	11.55165	0.717545029198054	0.83711	8.094083	0.924162656883319	0.26770	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	6.592000	0.73979	7.391000	0.58514	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0:0.0:1.0:0.0	17.513	0.87661	64	0.97283	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003171	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	2892.43	36	chr17	10362383	.	G	A	2892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.386;DP=550;ExcessHet=0;FS=4.757;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.2;MQRankSum=-0.017;QD=13.77;ReadPosRankSum=-1.366;SOR=0.455	GT:AD:DP:GQ:PL	0/1:100,110:210:99:2904,0,2432	9	0	1	0
chr17	10725105	10725105	T	C	exonic	TMEM220	.	nonsynonymous SNV	TMEM220:NM_001330139:exon3:c.A163G:p.I55V,TMEM220:NM_001330140:exon3:c.A163G:p.I55V,TMEM220:NM_001359647:exon3:c.A163G:p.I55V,TMEM220:NM_001004313:exon4:c.A193G:p.I65V	.	429	1088	5	0	0	5	0.00229253	.	.	.	2814961	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00304710754502	0.0061	0.00299521	0.0063	0.0016	0.0017	0	0.0035	0.0088	0.0055	0.0066	0.0067334	1041	154602	rs148509041	0.0081	0.0081	0.0082	0.0079	0.0092	0.0079	0.0079	0.0090	0.0090	0.0014	0.0024	0.0095	5.038e-05	0.0037	0.0016	0.0092	0.0067	0.0065	0.0059	0.0060	0.0060	0.0059	0.0093	0.0056	0.0055	0.0087	0.0085	0.0016	0.0274	0.0045	0.0098	0	0.0038	0	0.0093	0.0043	0.0060	0.102	0.30235	T	0.504	0.44302	T	0.002	0.09854	B	0.006	0.12133	B	0.467505	0.12317	N	0.733053	1	0.08975	N	1.405	0.35469	L	.	.	.	-0.51	0.18670	N	0.053	0.09490	-0.9926	0.31933	T	0.065	0.26807	T	9	0.0056113303	0.00124	T	0.003047	0.06577	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.07847448776778224	0.07782	0.294089448096	0.31827	0.327976375818	0.14628	T	0.00707	0.06489	T	-0.561859	0.00247	T	-0.570453	0.15409	T	0.00664885842527826	0.00075	T	0.481352	0.17505	T	0.025416434	0.01478	0.041817307	0.04840	0.025416434	0.01478	0.041817307	0.04839	-3.089	0.13063	T	.	.	0.072	0.06803	B	.;.;.	.;.;.	-0.223334	0.02973	0.443	0.50560422502453783	0.04406	0.02702	0.07349	N	AEFBI	0.106735	0.21287	N	-1.11225063752568	0.06423	0.2956704	-1.19197638537451	0.06043	0.2897016	0.0348117104093105	0.14171	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.94	-5.72	0.02211	0.349000	0.19801	-1.609000	0.05069	-0.721000	0.03806	0.030000	0.20431	0.000000	0.08366	0.039000	0.14166	0.1011:0.4563:0.1829:0.2597	4.604	0.11759	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005539	0.020202	0.001359	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	1284.43	34	chr17	10725105	.	T	C	1284.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.514;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.351;SOR=0.622	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1296,0,1248	9	0	1	0
chr17	11598513	11598533	GGAGCGGGCCGCGCTCGCGGC	-	exonic	DNAH9	.	nonframeshift deletion	DNAH9:NM_001372:exon1:c.15_35del:p.R7_E13del	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	0	0	0	.	0	3.84e-05	1	26028	rs776553619	9.682e-05	8.783e-05	9.757e-05	9.603e-05	0.0007	8.215e-05	7.645e-05	0.0004	0.0003	0.0001	8.633e-05	0.0003	0.0007	0	0	8.032e-05	0.0002	0	8.072e-05	8.027e-05	3.943e-05	0.0001	0.0018	4.596e-05	3.591e-05	0.0009	0.0007	2.42e-05	0	0	0	0.0018	0	0	3.032e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1507.01	36	chr17	11598512	.	AGGAGCGGGCCGCGCTCGCGGC	A	1507.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.08;DP=392;ExcessHet=0;FS=1.892;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=0.706;SOR=0.493	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1518,0,1385	8	0	1	1
chr17	16624270	16624270	C	G	exonic	ZNF624	.	nonsynonymous SNV	ZNF624:NM_020787:exon6:c.G616C:p.E206Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00126279118334	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775897578	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.06585	T	0.584	0.08390	T	0.072	0.23997	B	0.018	0.18489	B	.	.	.	.	0.999999	0.08975	N	0.245	0.09735	N	3.49	0.05071	T	-0.13	0.08971	N	0.116	0.10483	-0.9595	0.39274	T	0.008	0.02679	T	9	0.048728436	0.04363	T	0.001263	0.01708	T	0.047	0.12962	0.219	0.14078	0.415820034956	0.41198	0.13755548935054232	0.13679	0.446346046665	0.44510	0.21057009697	0.00836	T	0.007439	0.06846	T	-0.460344	0.00978	T	-0.729901	0.04332	T	0.0400247711586557	0.03695	T	0.0382962	0.00264	T	0.09912036	0.23387	0.08195308	0.18665	0.09912036	0.23387	0.08195308	0.18664	-0.988	0.00986	T	.	.	0.078	0.07036	B	.	.	1.129643	0.15161	11.64	0.10670653054778234	0.00141	0.00714	0.03017	N	AEFBCI	0.075792	0.15230	N	-0.987435514426961	0.08871	0.4176391	-0.928557415134987	0.11422	0.5817825	0.00824769751160594	0.11639	0.562547	0.31514	0	0.546412	0.12157	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	2.85	2.85	0.32333	0.203000	0.17113	-0.170000	0.11235	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.504000	0.29107	0.0:1.0:0.0:0.0	11.906	0.51997	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1505.43	33	chr17	16624270	.	C	G	1505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.148;DP=413;ExcessHet=0;FS=3.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-1.239;SOR=0.915	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1517,0,1336	9	0	1	0
chr17	18151186	18151186	C	G	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon38:c.C7550G:p.T2517S	Deafness, autosomal recessive 3, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	YES	327589	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_3	MedGen:C3661900|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0308351643437	.	.	0.0002	0	0.0004	0	0	0.0002	0.0011	0.0001	0.0001423	22	154602	rs201119351	8.962e-05	8.961e-05	7.079e-05	0.0001	0.0014	7.689e-05	7.233e-05	0.0007	0.0005	0	0.0002	0	0	1.875e-05	0.0014	8.094e-05	0.0001	0.0002	6.565e-05	6.561e-05	5.14e-05	8.055e-05	8.821e-05	3.514e-05	2.614e-05	3.762e-05	2.575e-05	0	0	6.534e-05	0.0003	0	0	0.0034	8.821e-05	0.0005	0	0.157	0.23997	T	0.357	0.17115	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	-2.21	0.86963	D	0.11	0.05706	N	0.218	0.63713	-0.6137	0.64250	T	0.442	0.77946	T	9	0.0777283	0.12304	T	0.030835	0.53060	D	0.167	0.42761	0.221	0.14371	0.497806138765	0.49414	0.18547005484424645	0.18465	.	.	0.408337593079	0.26227	T	0.005361	0.34354	T	-0.400259	0.02306	T	-0.515162	0.20785	T	0.0148943243974514	0.00316	T	0.412459	0.10726	T	0.03560985	0.04224	0.06663308	0.13677	0.039686833	0.05527	0.07126536	0.15241	-3.577	0.17525	T	0.0859103657150143	0.04893	0.078	0.06710	B	.;.;.	.;.;.	0.681597	0.10498	7.215	0.33459445142478739	0.01994	0.03064	0.07970	N	AEFBI	0.062184	0.11938	N	-0.979644302608828	0.09039	0.4261702	-0.950467441163496	0.10912	0.5526794	0.563669977306606	0.21434	0.533608	0.22052	0	0.547309	0.14657	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.25	3.1	0.34780	0.811000	0.26855	2.267000	0.31803	-0.273000	0.06669	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	0.0:0.5645:0.4355:0.0	13.931	0.63501	179	0.93046	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1668.43	34	chr17	18151186	.	C	G	1668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.19;DP=472;ExcessHet=0;FS=0.607;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.21;SOR=0.789	GT:AD:DP:GQ:PL	0/1:85,68:153:99:1680,0,2243	9	0	1	0
chr17	18242594	18242594	G	A	exonic	LLGL1	.	nonsynonymous SNV	LLGL1:NM_004140:exon21:c.G3082A:p.D1028N	.	390	1128	4	0	0	4	0.00176991	.	.	.	3287538	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.0343609555984	.	.	2.729e-05	0	0.0002	0	0	1.646e-05	0	0	1.94e-05	3	154602	rs764049583	3.147e-05	3.147e-05	3.267e-05	3.026e-05	0.0009	2.413e-05	2.158e-05	0.0003	0.0002	5.974e-05	0.0001	0	0	0	0.0009	2.518e-05	8.281e-05	1.16e-05	3.282e-05	3.28e-05	3.854e-05	2.685e-05	6.534e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	6.534e-05	0	0	0	0.0034	4.411e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	0.995	0.67487	D	0.82	0.59072	P	0.000002	0.62929	D	0.066431	1	0.81001	D	2.11	0.58565	M	3.26	0.06681	T	-2.89	0.60665	D	0.366	0.40765	-1.1993	0.00155	T	0.041	0.17700	T	10	0.27469936	0.45024	T	0.034361	0.55621	D	0.226	0.52472	0.284	0.24121	0.592316647194	0.58908	0.3661103324815214	0.36525	0.885781201236	0.69985	0.550657510757	0.45950	T	0.64463	0.89143	D	-0.322414	0.06702	T	-0.50393	0.21940	T	0.58687299489975	0.35883	D	.	.	.	0.40951842	0.61386	0.37619174	0.62746	0.40951842	0.61386	0.37619174	0.62746	-5.24	0.39346	T	.	.	0.152	0.33573	B	.;.	.;.	4.623213	0.73436	26.0	0.99923633030779258	0.98917	0.98257	0.80997	D	AEFDGBHCI	0.921610	0.89536	D	0.714007510165627	0.80550	7.319182	0.768729432622489	0.87549	9.260458	0.999999999999846	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.78	5.78	0.91418	8.749000	0.91303	11.781000	0.96113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	0.0:0.0:1.0:0.0	19.137	0.93416	183	0.92871	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1374.43	44	chr17	18242594	.	G	A	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=456;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.488;SOR=0.828	GT:AD:DP:GQ:PL	0/1:67,52:119:99:1386,0,1812	9	0	1	0
chr17	18316681	18316681	T	G	exonic	SMCR8	.	nonsynonymous SNV	SMCR8:NM_144775:exon1:c.T892G:p.C298G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00482516856736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.07093	T	0.65	0.06738	T	0.02	0.18235	B	0.016	0.17743	B	0.043271	0.23756	N	0.481200	0.994054	0.23596	N	1.61	0.41143	L	2.0	0.21473	T	-0.82	0.22508	N	0.119	0.10911	-1.0216	0.23195	T	0.031	0.13286	T	10	0.043017	0.03107	T	0.004825	0.12066	T	0.019	0.03383	0.316	0.29258	0.0482279557977	0.04254	0.2665931807544946	0.26572	0.0570742409901	0.06311	0.259175240993	0.04793	T	0.016709	0.13762	T	-0.199982	0.20807	T	-0.525037	0.19785	T	0.0520194694399834	0.05851	T	.	.	.	0.08759261	0.20404	0.053089827	0.08876	0.08759261	0.20404	0.053089827	0.08875	-1.854	0.02675	T	.	.	0.062	0.01271	B	.	.	1.195114	0.15865	12.16	0.87624160465875567	0.17362	0.42761	0.26949	N	AEFDBCI	0.211117	0.33693	N	-0.623896325856242	0.18228	0.9446827	-0.548051494119534	0.20858	1.125684	0.999529448511217	0.40175	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.73	0.393	0.15517	0.115000	0.15373	1.847000	0.29229	0.665000	0.62972	0.001000	0.13787	0.987000	0.30940	0.995000	0.73285	0.1952:0.4833:0.0:0.3215	4.060	0.09312	503	0.75780	Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1138.43	88	chr17	18316681	.	T	G	1138.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.406;DP=842;ExcessHet=0;FS=1.427;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-0.538;SOR=0.759	GT:AD:DP:GQ:PL	0/1:85,49:134:99:1150,0,2324	9	0	1	0
chr17	21304480	21304480	A	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon8:c.A536T:p.D179V,MAP2K3:NM_145109:exon8:c.A623T:p.D208V,MAP2K3:NM_001316332:exon9:c.A536T:p.D179V	.	381	1110	31	0	0	31	0.0137717	.	.	.	727068	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.847	0.464794937955	0.0005	.	0.0019	0	0.0014	0.0001	0	0.0010	0.0033	0.0090	0.0015718	243	154602	rs138917253	0.0006	0.0012	0.0004	0.0007	0.0079	0.0005	0.0005	0.0061	0.0054	0	0.0006	0.0043	0	0	0.0079	0.0002	0.0012	0.0044	0.0008	0.0009	0.0006	0.0010	0.0089	0.0007	0.0006	0.0068	0.0061	2.403e-05	0	0.0016	0.0055	0	0	0	0.0004	0.0019	0.0089	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	4.955	0.99831	H	-3.16	0.92996	D	-8.78	0.97757	D	0.969	0.98750	0.979	0.96843	D	0.944	0.98156	D	10	0.13991159	0.26598	T	0.464795	0.94577	D	0.847	0.95249	.	.	0.982758890268	0.98257	0.9652089549291394	0.96507	0.721303731507	0.62229	0.802632689476	0.82365	T	0.554346	0.84967	D	0.516752	0.94802	D	0.504502	0.94726	D	0.342278975922263	0.26714	T	0.998371	0.99212	D	0.96212345	0.97493	0.9379656	0.97633	0.96212345	0.97494	0.9379656	0.97633	-12.846	0.89281	D	.	.	1.0	0.99952	P	.;.;.;.	.;.;.;.	4.977128	0.82420	27.8	0.99416516453624582	0.63549	0.93551	0.58526	D	AEFDGBCI	0.925047	0.90398	D	0.891351639030804	0.91329	10.82895	0.722524506376995	0.84091	8.195875	0.999999998996492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.98	3.9	0.44240	7.387000	0.79051	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.9237:0.0:0.0763:0.0	10.597	0.44533	814	0.42100	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.014620	0.000000	0.000000	0.006098	0.015152	0.05	1394.43	104	chr17	21304480	.	A	T	1394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.291;DP=1213;ExcessHet=0;FS=0.996;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.45;MQRankSum=-1.39;QD=4.47;ReadPosRankSum=0.912;SOR=0.762	GT:AD:DP:GQ:PL	0/1:233,79:312:99:1406,0,6071	9	0	1	0
chr17	37206805	37206805	G	A	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon30:c.C3641T:p.T1214M,ACACA:NM_198838:exon31:c.C3581T:p.T1194M,ACACA:NM_198834:exon32:c.C3926T:p.T1309M,ACACA:NM_198836:exon32:c.C3815T:p.T1272M,ACACA:NM_198839:exon36:c.C3815T:p.T1272M	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2209740	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.00217178415445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-06	6.841e-06	5.451e-06	8.258e-06	9.003e-06	3.46e-06	2.53e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	9.003e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.50514	T	0.916	0.50672	P	0.562	0.49608	P	0.000022	0.55875	D	0.157552	0.997436	0.43885	D	1.5	0.37844	L	.	.	.	.	.	.	0.343	0.39760	-1.0047	0.28547	T	0.125	0.43028	T	10	0.24857852	0.42156	T	0.002172	0.04071	T	.	.	0.415	0.45380	0.143184338766	0.13958	0.3859482374907435	0.38509	.	.	0.397635906935	0.24740	T	0.332582	0.70253	T	-0.00681727	0.50710	T	-0.247569	0.50057	T	0.682951739826588	0.39923	D	.	.	.	0.09869309	0.23281	0.1373662	0.32835	0.09869309	0.23281	0.1373662	0.32834	-3.889	0.22137	T	.	.	0.084	0.11654	B	.;.;.;.	.;.;.;.	4.615397	0.73231	26.0	0.99467417255356561	0.66154	0.99304	0.94225	D	AEFBI	0.893906	0.83234	D	0.39055214749652	0.60910	4.28531	0.489664443828018	0.67302	5.066056	0.999999996708482	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	9.236000	0.94474	11.913000	0.99630	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.581000	0.30918	0.0:0.0:1.0:0.0	19.894	0.96941	657	0.62240	.;.;Acetyl-CoA carboxylase, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	447.43	34	chr17	37206805	.	G	A	447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.275;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.13;SOR=0.551	GT:AD:DP:GQ:PL	0/1:24,20:44:99:459,0,587	9	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5690.04	86	chr17	37257713	.	C	T	5690.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.669;DP=834;ExcessHet=22.563;FS=449.684;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.076;SOR=12.223	GT:AD:DP:GQ:PL	0/1:27,48:75:99:778,0,140	0	0	10	0
chr17	38329040	38329040	C	T	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G4529A:p.R1510K	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000873884592495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.32249	T	.	.	.	.	.	.	0.068212	0.21688	N	0.339703	0.999989	0.18198	N	.	.	.	.	.	.	.	.	.	0.167	0.17691	-1.0058	0.28216	T	0.124	0.42736	T	10	0.060441643	0.07423	T	8.74E-4	0.00777	T	.	.	0.242	0.17524	0.130388298395	0.12655	0.15757418050019867	0.15678	.	.	0.219104394317	0.01259	T	.	.	.	-0.302428	0.08432	T	-0.672194	0.07467	T	0.0656085908412933	0.08021	T	0.320768	0.06490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21428	B	.;.	.;.	1.716472	0.21855	15.38	0.95270065883130983	0.26551	0.06583	0.12597	N	AEFDGBI	.	.	.	-0.859612155863479	0.11814	0.5722405	-0.847178034641282	0.13356	0.6923798	0.995088107820583	0.33945	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.51	2.45	0.28953	0.114000	0.15353	0.321000	0.17185	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.504000	0.29107	0.0:0.7872:0.0:0.2128	7.597	0.27224	123	0.95099	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	9305.43	33	chr17	38329040	.	C	T	9305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=1243;ExcessHet=0;FS=1.09;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.12;SOR=0.792	GT:AD:DP:GQ:PL	0/1:375,360:735:99:9317,0,9841	9	0	1	0
chr17	38479767	38479767	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon14:c.C2513T:p.P838L	.	402	898	221	1	0	223	0.110451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00849835012686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179139464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.43531	T	0.288	0.36312	B	0.122	0.33328	B	0.007798	0.31194	N	0.339007	0.999976	0.54805	D	1.39	0.34934	L	.	.	.	.	.	.	0.135	0.13198	-1.0637	0.10855	T	0.029	0.12585	T	10	0.114997685	0.21652	T	0.008498	0.22482	T	.	.	.	.	0.548654159409	0.54520	0.28172159854278217	0.28085	.	.	0.641096115112	0.58720	T	0.005151	0.04592	T	-0.0195816	0.48914	T	-0.265904	0.48233	T	0.528647541999817	0.33684	D	.	.	.	0.1456844	0.33383	0.13910079	0.33200	0.1456844	0.33383	0.13910079	0.33199	-9.479	0.70728	D	.	.	0.062	0.08176	B	.;.	.;.	4.028711	0.59562	24.1	0.98714625169202608	0.45113	0.96355	0.68733	D	AEFBI	0.398704	0.47428	N	0.0482024911508484	0.44059	2.686984	0.198608916344503	0.49770	3.17639	0.838475277280199	0.24822	0.67177	0.52595	0	0.588066	0.40923	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.88	4.88	0.63131	1.707000	0.37507	4.883000	0.45686	0.598000	0.34611	0.428000	0.26393	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.409	0.60378	127	0.94899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	94.43	34	chr17	38479767	.	C	T	94.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.606;DP=430;ExcessHet=0.7463;FS=0.774;InbreedingCoeff=-0.1759;MLEAC=3;MLEAF=0.15;MQ=49.15;MQRankSum=-2.443;QD=0.63;ReadPosRankSum=-1.268;SOR=0.781	GT:AD:DP:GQ:PL	0/1:42,8:50:48:48,0,1125	7	0	3	0
chr17	39687891	39687891	A	C	exonic	PGAP3	.	nonsynonymous SNV	PGAP3:NM_001291726:exon1:c.T124G:p.S42A,PGAP3:NM_001291728:exon1:c.T124G:p.S42A,PGAP3:NM_001291730:exon1:c.T124G:p.S42A,PGAP3:NM_001291732:exon1:c.T124G:p.S42A,PGAP3:NM_001291733:exon1:c.T124G:p.S42A,PGAP3:NM_033419:exon1:c.T124G:p.S42A	Hyperphosphatasia with mental retardation syndrome 4, Autosomal recessive	411	1110	1	0	0	1	0.000450248	.	.	.	1780462	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.128	0.0126094751495	0.0005	.	0.0010	0.0003	0.0023	0	0	0.0016	0	0.0002	0.0004269	66	154602	rs150801318	0.0005	0.0005	0.0005	0.0006	0.0016	0.0005	0.0005	0.0008	0.0006	6.669e-05	0.0004	0.0016	0	1.996e-05	0.0016	0.0006	0.0008	0.0002	0.0005	0.0005	0.0006	0.0005	0.0013	0.0005	0.0004	0.0009	0.0007	0.0001	0	0.0013	0.0014	0	0	0	0.0007	0.0010	0	0.019	0.50132	D	0.135	0.45318	T	0.75	0.45105	P	0.253	0.42281	B	0.000009	0.62929	D	0.063063	0.999382	0.46865	D	1.75	0.45442	L	.	.	.	-1.25	0.33598	N	0.428	0.50146	-1.0431	0.16383	T	0.103	0.37894	T	9	0.036887646	0.02011	T	0.012609	0.31334	T	0.128	0.35103	.	.	0.499535901811	0.49588	0.490865920719108	0.49006	0.474333792737	0.46621	0.478932708502	0.35910	T	0.022143	0.28131	T	-0.323259	0.06635	T	-0.320147	0.42559	T	0.0512097908025927	0.05712	T	0.80202	0.44827	T	0.16546147	0.36820	0.1788963	0.40589	0.16546147	0.36819	0.1788963	0.40588	-6.695	0.54681	T	0.2353842327551329	0.31872	0.144	0.31808	B	.;.;.;.	.;.;.;.	4.183893	0.63012	24.5	0.98597735042972678	0.43467	0.90671	0.52042	D	ALL	0.719857	0.67061	D	0.0924645233479363	0.46111	2.856667	0.195459393077193	0.49598	3.161037	0.999999999999996	0.74766	0.468429	0.09910	2	0.484254	0.07192	0	0.504199	0.09095	0	0.003489	0.00041	3	.	.	4.68	4.68	0.58319	5.603000	0.67304	9.323000	0.80062	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8311:0.0:0.0:0.1689	8.764	0.33851	562	0.71143	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002047	0.005435	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	688.43	34	chr17	39687891	.	A	C	688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.5;DP=371;ExcessHet=0;FS=2.045;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.336;SOR=0.976	GT:AD:DP:GQ:PL	0/1:34,30:64:99:700,0,833	9	0	1	0
chr17	41379017	41379017	G	A	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.C1162T:p.R388C	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.100139260897	7.7e-05	0.000599042	0.0005	0	0.0002	0	0	0.0002	0.0011	0.0027	0.0004269	66	154602	rs199674249	0.0003	0.0003	0.0002	0.0003	0.0038	0.0002	0.0002	0.0026	0.0022	2.987e-05	2.236e-05	7.652e-05	0	0	0.0038	0.0002	0.0003	0.0020	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0001	0.0014	0.0011	4.841e-05	0	0.0001	0.0003	0	0	0.0034	0.0002	0.0005	0.0025	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.954	0.69447	D	0.014846	0.28412	N	0.253257	0.988469	0.40769	D	2.675	0.78361	M	-2.56	0.89627	D	.	.	.	0.339	0.38027	-0.2334	0.76798	T	0.367	0.72750	T	9	0.034047008	0.01599	T	0.100139	0.77223	D	0.226	0.52472	.	.	0.766879099095	0.76474	0.47790699170017	0.47710	0.310153319913	0.33327	0.550824522972	0.45974	T	0.660642	0.89812	D	-0.218726	0.18167	T	-0.0934374	0.63902	T	0.128473398188838	0.15240	T	0.981002	0.93456	D	0.5524838	0.70093	0.44756305	0.67832	0.5524838	0.70094	0.44756305	0.67832	-10.497	0.76830	D	.	.	0.474	0.63352	A	.	.	3.066477	0.41201	21.3	0.99852562518440979	0.93191	0.70318	0.34541	D	AEFDGBI	0.414579	0.48379	N	-0.0141221407383452	0.41216	2.461	-0.231927307959268	0.30400	1.711281	0.0214792538971461	0.13352	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	-0.339	0.12019	1.057000	0.30102	-1.430000	0.05458	0.671000	0.69459	0.628000	0.27982	0.000000	0.08366	0.337000	0.25363	0.0:0.0:0.2426:0.7574	14.343	0.66199	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2533.43	34	chr17	41379017	.	G	A	2533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=590;ExcessHet=0;FS=0.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.728;SOR=0.782	GT:AD:DP:GQ:PL	0/1:169,106:275:99:2545,0,4081	9	0	1	0
chr17	41965283	41965283	G	A	exonic	TTC25	.	nonsynonymous SNV	TTC25:NM_031421:exon12:c.G1819A:p.E607K	Ciliary dyskinesia, primary, 35, Autosomal recessive	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0018	0	0.0001	0.0001	0	5.28e-05	0.0027	0.0129	0.0013195	204	154602	rs200610016	0.0013	0.0013	0.0007	0.0018	0.0105	0.0012	0.0012	0.0099	0.0096	0	0.0001	0	2.774e-05	0	0.0014	8.297e-05	0.0008	0.0105	0.0004	0.0004	0.0003	0.0005	0.0097	0.0003	0.0003	0.0075	0.0067	2.405e-05	0	0.0003	0	0.0002	0	0	8.82e-05	0.0005	0.0097	.	.	.	0.092	0.39954	T	0.798	0.44840	P	0.22	0.37792	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.12627	.	.	.	.	.	.	.	0.0037316978	0.00069	T	.	.	.	.	.	.	.	0.351180957027	0.34734	0.37280934859343895	0.37194	.	.	0.391143590212	0.23830	T	0.021469	0.16712	T	-0.260597	0.12830	T	-0.137711	0.60316	T	.	.	.	0.667233	0.27634	T	0.025718594	0.01542	0.06028542	0.11455	0.025718594	0.01542	0.06028542	0.11454	-5.154	0.38470	T	.	.	0.093	0.13969	B	.	.	0.622410	0.09910	6.668	0.50793049456722161	0.04447	0.04653	0.10326	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999942329062782	0.47345	0.119485	0.03058	0	0.097471	0.02872	0	0.068591	0.01938	0	0.137164	0.03996	0	0.120704	0.24709	3.87	1.79	0.23992	0.549000	0.23037	2.418000	0.32674	-0.153000	0.12021	0.006000	0.17386	0.985000	0.30750	0.001000	0.02609	0.1311:0.2453:0.6236:0.0	4.714	0.12264	476	0.77720	.	.	.	.	.	.	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	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.015152	0.05	913.43	34	chr17	41965283	.	G	A	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=407;ExcessHet=0;FS=1.804;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.331;SOR=0.47	GT:AD:DP:GQ:PL	0/1:53,34:87:99:925,0,1521	9	0	1	0
chr17	42670271	42670271	C	G	exonic	PLEKHH3	.	nonsynonymous SNV	PLEKHH3:NM_024927:exon11:c.G1660C:p.V554L	.	428	1091	3	0	0	3	0.001373	.	.	.	2337940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.108898854201	.	.	0	.	0	0	.	.	.	0	3.84e-05	1	26028	rs763378432	0.0003	0.0004	0.0002	0.0004	0.0084	0.0003	0.0003	0.0076	0.0073	0	0	0	0	0	0.0003	1.463e-05	0.0003	0.0084	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0.0002	0	0	4.438e-05	0	0.0077	.	.	.	0.299	0.20422	T	0.002	0.09854	B	0.007	0.12992	B	0.597721	0.05628	N	1.307990	1	0.23147	N	0	0.06538	N	1.04	0.40218	T	.	.	.	0.073	0.04668	-1.0445	0.15971	T	0.039	0.16806	T	9	0.011127859	0.00244	T	0.108899	0.78563	D	0.062	0.17934	0.352	0.35084	0.37550373646	0.37164	0.429532046753323	0.42870	1.46540379897	0.86441	0.911213040352	0.97584	D	0.098068	0.41088	T	-0.190392	0.22202	T	-0.511261	0.21185	T	0.0805165784099286	0.10053	T	0.734627	0.35288	T	0.118411236	0.27899	0.0877749	0.20425	0.118411236	0.27899	0.0877749	0.20424	-2.149	0.03800	T	.	.	0.099	0.18331	B	.;.	.;.	2.417006	0.31076	18.63	0.94928056300588437	0.25810	0.31453	0.24341	N	ALL	0.144499	0.26748	N	-0.904341025556349	0.10740	0.514715	-0.775725749978351	0.15091	0.7919602	0.999999997543906	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.519653	0.09787	0	0.711	0.71501	0	.	.	3.96	2.97	0.33479	1.308000	0.33133	0.034000	0.13773	0.487000	0.22268	0.001000	0.13787	0.000000	0.08366	0.935000	0.47363	0.1892:0.8108:0.0:0.0	10.841	0.45923	386	0.83455	FERM central domain|FERM domain|Band 4.1 domain;FERM central domain|FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004775	0.000000	0.001916	0.000000	0.000000	0.000000	0.000000	0.020619	0.05	129.45	15	chr17	42670271	.	C	G	129.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=141;ExcessHet=0;FS=0;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,5:11:99:0|1:42670271_C_G:141,0,157:42670271	9	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	883.7	49	chr17	43209576	.	C	T	883.7	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.175;DP=394;ExcessHet=3.8694;FS=226.211;InbreedingCoeff=-0.444;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.48;ReadPosRankSum=0.783;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,14:58:99:0|1:43209572_C_T:326,0,1578:43209572	1	0	5	4
chr17	45437863	45437863	C	T	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_014798:exon12:c.G3166A:p.A1056T	Osteopetrosis, autosomal recessive 6	0	1507	14	1	0	16	0.00528053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0245794652315	.	0.00139776	0.0011	0	8.69e-05	0	0	0	0.0045	0.0074	0.0008667	134	154602	rs571630488	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0057	0.0056	0	0	0	2.519e-05	0	0.0003	2.609e-05	0.0005	0.0062	0.0002	0.0002	7.706e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0.0005	0.0060	0.584	0.05918	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.722859	0.06324	N	1.146690	1	0.08975	N	-0.69	0.01958	N	-0.1	0.64264	T	0.9	0.01618	N	0.038	0.01203	-1.0030	0.29050	T	0.050	0.21143	T	10	0.0045495033	0.00094	T	0.024579	0.47567	T	0.050	0.13987	0.37	0.38013	0.361328159215	0.35739	0.28945816570426874	0.28858	0.691066777094	0.60568	0.337154626846	0.16012	T	0.024428	0.18459	T	-0.619713	0.00110	T	-0.658806	0.08347	T	0.347350627183914	0.26914	T	.	.	.	0.01327628	0.00054	0.0359155	0.02936	0.01327628	0.00054	0.0359155	0.02936	-3.047	0.10696	T	.	.	0.069	0.03128	B	.	.	-0.197882	0.03100	0.491	0.91814158263898071	0.21121	0.00742	0.03097	N	AEFDBHCIJ	0.028162	0.02430	N	-1.89139836838618	0.00358	0.01536147	-1.84159309856747	0.00635	0.02821608	0.999999292072936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.82	-3.87	0.03939	-0.059000	0.11688	-0.664000	0.07966	-0.834000	0.02848	0.210000	0.24424	0.000000	0.08366	0.000000	0.00833	0.1387:0.4219:0.0:0.4395	5.714	0.17221	368	0.84463	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000531	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1295.43	34	chr17	45437863	.	C	T	1295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.155;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=3.01;SOR=0.767	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1307,0,1094	9	0	1	0
chr17	46872588	46872588	C	T	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.C149T:p.A50V,WNT9B:NM_003396:exon2:c.C149T:p.A50V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.033731370638	.	.	3.548e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs780934556	1.441e-05	1.71e-05	4.094e-06	2.483e-05	0.0002	9.26e-06	7.86e-06	0.0001	0.0001	0	2.252e-05	0	0	0	0	0	4.982e-05	0.0002	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	0.021	0.65419	D	0.037	0.63918	D	0.02	0.27209	B	0.007	0.18140	B	0.004994	0.33199	N	0.286492	0.999424	0.47006	D	2.215	0.62545	M	-1.52	0.81478	D	-1.64	0.39314	N	0.131	0.13341	-0.4386	0.70777	T	0.341	0.70721	T	10	0.18024266	0.33199	T	0.033731	0.55185	D	0.188	0.46444	0.322	0.30226	0.807569245266	0.80577	0.5605535382979216	0.55982	0.262269360027	0.28792	0.593218743801	0.51948	T	0.335207	0.70486	T	-0.216499	0.18473	T	-0.284334	0.46359	T	0.0799966158679666	0.09986	T	.	.	.	0.0803275	0.18400	0.114290446	0.27588	0.0803275	0.18400	0.114290446	0.27587	-5.546	0.42296	T	.	.	0.085	0.10208	B	.;.;.	.;.;.	2.447206	0.31507	18.76	0.99926642013365674	0.99103	0.68037	0.33652	D	AEFDBI	0.496544	0.53144	N	-0.383008220435297	0.26075	1.420259	-0.349899771560938	0.26512	1.46488	0.248349945164727	0.18652	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	3.51	0.39297	0.391000	0.20511	1.947000	0.29863	0.596000	0.33519	0.028000	0.20300	0.988000	0.31051	0.454000	0.27984	0.0:0.7814:0.1401:0.0785	9.814	0.40008	444	0.79803	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	967.43	35	chr17	46872588	.	C	T	967.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.116;DP=421;ExcessHet=0;FS=2.725;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.435;SOR=0.439	GT:AD:DP:GQ:PL	0/1:51,43:94:99:979,0,1296	9	0	1	0
chr17	48550866	48550866	G	A	exonic	HOXB3	.	nonsynonymous SNV	HOXB3:NM_001384747:exon3:c.C764T:p.S255L,HOXB3:NM_001384750:exon4:c.C545T:p.S182L,HOXB3:NM_002146:exon4:c.C764T:p.S255L,HOXB3:NM_001330322:exon5:c.C545T:p.S182L,HOXB3:NM_001330323:exon5:c.C368T:p.S123L,HOXB3:NM_001384749:exon5:c.C764T:p.S255L	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.397452915372	.	.	0.0003	0	0	0	0	0	0	0.0024	0.0002717	42	154602	rs368031900	0.0002	0.0002	8.985e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0002	5.396e-06	0.0001	0.0028	6.571e-05	6.562e-05	5.142e-05	8.066e-05	0.0014	3.517e-05	2.616e-05	0.0007	0.0005	0	0	0	0	0.0002	0	0	2.941e-05	0	0.0014	0.008	0.65419	D	0.046	0.49120	D	1.0	0.90584	D	0.92	0.65550	D	0.001649	0.38382	N	0.218239	0.996256	0.81001	D	2.265	0.64440	M	-2.14	0.86415	D	-5.53	0.86073	D	0.327	0.56231	0.581	0.91642	D	0.749	0.91451	D	10	0.040641695	0.02650	T	0.397453	0.93324	D	0.510	0.78971	0.19	0.10039	0.864432927957	0.86311	0.7290673046364622	0.72851	1.16406806976	0.79569	0.807307004929	0.83078	D	0.656965	0.89658	D	-0.32883	0.06201	T	-0.249109	0.49905	T	0.23703171551193	0.22282	T	0.926807	0.79107	D	0.2946888	0.52425	0.33654857	0.59456	0.2946888	0.52424	0.33654857	0.59455	-6.995	0.59927	T	.	.	0.298	0.52793	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.840128	0.93776	33	0.99870013620955844	0.94815	0.95557	0.65196	D	AEFDBHCI	.	.	.	0.551049406158401	0.70145	5.458893	0.431368620957097	0.63529	4.588468	0.999999685903574	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.596491	0.31596	0	0.714379	0.83352	0	.	.	3.66	2.68	0.30839	7.819000	0.84757	11.643000	0.93808	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.091:0.0:0.909:0.0	11.230	0.48135	572	0.70300	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1900.43	35	chr17	48550866	.	G	A	1900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.883;DP=474;ExcessHet=0;FS=8.355;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=1.46;SOR=1.418	GT:AD:DP:GQ:PL	0/1:56,70:126:99:1912,0,1421	9	0	1	0
chr17	50117573	50117573	C	G	exonic	SAMD14	.	nonsynonymous SNV	SAMD14:NM_001257359:exon4:c.G333C:p.E111D,SAMD14:NM_174920:exon4:c.G333C:p.E111D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0352711414868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.22400	T	0.437	0.15355	T	0.421	0.43659	B	0.05	0.40614	B	0.005605	0.32654	N	0.209202	0.621257	0.32707	D	1.355	0.33814	L	.	.	.	-1.1	0.32791	N	0.203	0.22486	-0.9262	0.44688	T	0.097	0.36367	T	9	0.14825007	0.28077	T	0.035271	0.56231	D	0.048	0.13305	0.095	0.01241	0.555788435936	0.55237	0.3538032966920075	0.35294	1.19617047702	0.80404	0.889813065529	0.95237	D	0.055418	0.30000	T	-0.141496	0.29652	T	-0.441025	0.28694	T	0.497548907995224	0.32540	T	0.678032	0.28700	T	0.11054122	0.26126	0.10171403	0.24358	0.11054122	0.26126	0.10171403	0.24358	-3.476	0.16671	T	.	.	0.072	0.13737	B	.;.;.	.;.;.	2.069692	0.26317	17.08	0.98792543981873915	0.46317	0.79415	0.39348	D	ALL	0.293554	0.40415	N	-0.21849317765686	0.32374	1.825157	-0.164950594762138	0.32837	1.872192	0.999999999924763	0.74766	0.652421	0.48094	0	0.609123	0.50646	0	0.64067	0.45733	0	0.695668	0.68540	0	.	.	5.03	1.88	0.24630	0.470000	0.21795	-0.015000	0.13005	0.533000	0.24879	0.999000	0.42656	0.794000	0.26889	0.996000	0.76049	0.0:0.6384:0.0:0.3616	7.388	0.26064	810	0.42761	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	379.43	35	chr17	50117573	.	C	G	379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.567;DP=339;ExcessHet=0;FS=1.32;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.16;SOR=1.061	GT:AD:DP:GQ:PL	0/1:18,17:35:99:391,0,405	9	0	1	0
chr17	55031210	55031210	C	G	exonic	STXBP4	.	nonsynonymous SNV	STXBP4:NM_178509:exon9:c.C709G:p.Q237E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00234993074925	.	.	5.824e-05	0	0	0	0	1.514e-05	0	0.0004	4.53e-05	7	154602	rs773689328	3.148e-05	3.147e-05	2.451e-05	3.852e-05	0.0003	2.413e-05	2.159e-05	0.0003	0.0002	0	0	0	0	0	0.0002	1.08e-05	4.97e-05	0.0003	1.314e-05	1.312e-05	0	2.688e-05	0.0004	2.18e-06	8.2e-07	7.315e-05	3.038e-05	0	0	0	0	0	0	0	0	0	0.0004	0.293	0.18498	T	0.289	0.21343	T	0.016	0.17332	B	0.004	0.14300	B	0.006576	0.31942	N	0.336602	0.99465	0.23472	N	1.445	0.36358	L	1.4	0.33630	T	-0.82	0.28703	N	0.269	0.32921	-1.0529	0.13601	T	0.053	0.22307	T	10	0.08329299	0.13841	T	0.00235	0.04562	T	0.021	0.04004	0.183	0.09131	0.565722134273	0.56235	0.25410540013764976	0.25324	0.165898034849	0.18718	0.305732011795	0.11262	T	0.010154	0.18273	T	-0.398093	0.02383	T	-0.513417	0.20964	T	0.0389478504657745	0.03502	T	0.753825	0.37593	T	0.08760516	0.20407	0.071868725	0.15440	0.08760516	0.20407	0.071868725	0.15439	-6.976	0.58478	T	.	.	0.065	0.03372	B	.;.;.;.	.;.;.;.	2.504758	0.32342	19.01	0.96233039684977784	0.29126	0.53314	0.29342	D	AEFGBI	0.060258	0.11440	N	-0.274756476300763	0.30126	1.676947	-0.0893932867968993	0.35828	2.07744	1.86435833104416E-4	0.05844	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.79	3.58	0.40133	1.943000	0.39880	4.398000	0.43237	0.599000	0.40250	0.949000	0.33028	1.000000	0.68203	0.998000	0.85391	0.1617:0.689:0.1493:0.0	9.557	0.38511	688	0.59122	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1235.43	33	chr17	55031210	.	C	G	1235.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.49;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.719;SOR=0.665	GT:AD:DP:GQ:PL	0/1:75,57:132:99:1247,0,1844	9	0	1	0
chr17	57744920	57744920	A	G	exonic	CCDC182	.	nonsynonymous SNV	CCDC182:NM_001282544:exon1:c.T353C:p.L118P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0771607784339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.001086	0.40303	N	0.000000	.	.	.	2.255	0.64187	M	.	.	.	-7.0	0.93697	D	0.832	0.82761	-0.2419	0.76576	T	0.279	0.65048	T	5	0.75008667	0.75572	D	0.077161	0.72705	D	0.314	0.63588	0.336	0.32491	0.426084969639	0.42228	0.9253483376281977	0.92511	.	.	.	.	.	0.113353	0.43032	T	0.346792	0.86289	D	0.260366	0.86106	D	0.990066647529602	0.80280	D	0.538946	0.18179	T	0.92789245	0.94025	0.9276454	0.96932	0.92789245	0.94026	0.9276454	0.96933	-6.005	0.46322	T	.	.	0.968	0.89054	P	.	.	4.452972	0.69239	25.3	0.99865479527389633	0.94366	0.78250	0.38578	D	AEFDBHCI	0.710020	0.66392	D	0.3346141645078	0.57934	3.962806	0.39103074462842	0.61009	4.29545	0.999736681354957	0.42341	0.608966	0.35542	0	0.681609	0.65952	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.03	5.03	0.67015	4.514000	0.60201	9.043000	0.78620	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	1.0:0.0:0.0:0.0	11.079	0.47270	86	0.96395	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	360.43	35	chr17	57744920	.	A	G	360.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.874;DP=536;ExcessHet=0;FS=2.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.149;SOR=1.352	GT:AD:DP:GQ:PL	0/1:23,15:38:99:372,0,707	9	0	1	0
chr17	69216249	69216249	A	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon7:c.T640C:p.F214L,ABCA10:NM_080282:exon8:c.T640C:p.F214L	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	.	7.7e-05	0.00279553	0.0025	0.0002	0.0160	0.0042	0.0060	0.0006	0.0011	0.0001	0.002128	329	154602	rs146540010	0.0010	0.0010	0.0011	0.0010	0.0110	0.0010	0.0010	0.0102	0.0099	8.966e-05	0.0110	0	0.0101	0.0066	0	0.0002	0.0008	6.964e-05	0.0014	0.0014	0.0009	0.0018	0.0062	0.0012	0.0012	0.0045	0.0039	0.0002	0	0.0037	0	0.0062	0.0080	0	0.0003	0.0014	0	0.063	0.36709	T	0.057	0.46406	T	0.267	0.31683	B	0.344	0.42549	B	0.003370	0.35041	U	0.000000	1	0.08975	N	2.88	0.83451	M	-1.66	0.82715	D	-4.94	0.81835	D	0.287	0.32481	-0.2868	0.75354	T	0.492	0.80727	T	10	0.008529007	0.00193	T	.	.	.	0.381	0.69863	0.374	0.38667	0.202086224978	0.19791	0.23306834098943174	0.23221	0.0523461774483	0.05764	0.469741284847	0.34644	T	0.282223	0.65496	T	-0.273755	0.11342	T	-0.155619	0.58744	T	0.0858461603260738	0.10717	T	0.89951	0.64815	D	0.40862107	0.61325	0.51277333	0.71845	0.40862107	0.61326	0.51277333	0.71846	-7.062	0.54486	T	.	.	0.666	0.71562	P	.	.	1.522449	0.19545	14.32	0.98789376668985696	0.46269	0.02520	0.07022	N	AEFI	0.045523	0.07454	N	-0.609304996247237	0.18664	0.9707909	-0.795088634469938	0.14615	0.7645752	7.29573119437111E-6	0.01202	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.34	-0.607	0.11033	0.996000	0.29320	-0.256000	0.10466	-0.731000	0.03728	0.008000	0.17931	0.000000	0.08366	0.326000	0.25110	0.4563:0.5437:0.0:0.0	9.665	0.39143	937	0.14592	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1429.43	36	chr17	69216249	.	A	G	1429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.168;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-2.171;SOR=0.66	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1441,0,1655	9	0	1	0
chr17	73208375	73208375	A	G	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon14:c.A2867G:p.Q956R	Congenital disorder of glycosylation, type IIg	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0171117305825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.162	0.23541	T	0.302	0.20228	T	0.911	0.50336	P	0.473	0.46845	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.85	0.82803	M	1.85	0.24472	T	-0.88	0.23808	N	0.855	0.85132	-1.0858	0.06263	T	0.091	0.34737	T	10	0.73663557	0.74666	D	0.017112	0.38673	T	0.200	0.48430	0.379	0.39482	0.400468435593	0.39662	.	.	0.534834994756	0.50872	0.537371754646	0.44075	T	0.035774	0.23850	T	0.123064	0.66678	D	-0.0610041	0.66262	T	0.813271037649624	0.47280	D	0.880612	0.59878	D	0.3434767	0.56555	0.2530628	0.50947	0.3434767	0.56555	0.2530628	0.50946	-1.755	0.02378	T	.	.	0.169	0.37121	B	.	.	4.116440	0.61489	24.3	0.9976649973125612	0.85500	0.97634	0.76048	D	AEFDBCI	0.906027	0.85828	D	0.58575844758797	0.72285	5.781735	0.642925759467489	0.78087	6.80578	0.999999999692492	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	8.441000	0.90175	11.290000	0.92000	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	16.822	0.85699	453	0.79178	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1112.43	36	chr17	73208375	.	A	G	1112.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.59;DP=428;ExcessHet=0;FS=6.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.386;SOR=1.252	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1124,0,1493	9	0	1	0
chr17	75610930	75610930	G	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon22:c.G4303A:p.E1435K	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0036	0	0	0	0	0	0.0063	0.0062	0.0003622	56	154602	rs550740455	0.0007	0.0007	0.0004	0.0011	0.0061	0.0007	0.0007	0.0056	0.0054	0.0001	0	0	3.115e-05	0	0.0002	3.47e-05	0.0004	0.0061	0.0003	0.0003	0.0001	0.0004	0.0064	0.0002	0.0002	0.0046	0.0040	0.0001	0	6.535e-05	0	0.0002	0	0	2.94e-05	0	0.0064	.	.	.	0.445	0.92824	T	0.053	0.22573	B	0.003	0.08700	B	.	.	.	.	0.999996	0.08975	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	.	.	.	.	.	.	.	0.004454255	0.00201	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020946	0.16402	T	.	.	.	.	.	.	.	.	.	0.483852	0.21138	T	0.019628298	0.00498	0.047340468	0.06798	0.019628298	0.00497	0.047340468	0.06797	-4.814	0.34754	T	.	.	0.071	0.03964	B	.;.;.	.;.;.	-1.248656	0.00484	0.010	0.32848713269841173	0.01925	0.05120	0.10925	N	AEFDGBHCI	0.078433	0.15824	N	.	.	.	.	.	.	0.999999999999548	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	0.926	-1.85	0.07363	-1.593000	0.02200	-3.661000	0.02623	-1.572000	0.00931	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3164:0.3376:0.3461:0.0	2.194	0.03667	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1162.43	35	chr17	75610930	.	G	A	1162.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.418;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.184;SOR=0.776	GT:AD:DP:GQ:PL	0/1:34,48:82:99:1174,0,783	9	0	1	0
chr17	76280707	76280707	T	C	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon10:c.A3910G:p.K1304E	.	429	1077	16	0	0	16	0.00737327	.	.	.	2808414	not_provided|QRICH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	.	0.0048	0.00479233	0.0080	0.0015	0.0029	0.0003	0.0269	0.0085	0.0155	0.0095	0.007736	1196	154602	rs61759535	0.0091	0.0091	0.0089	0.0092	0.0112	0.0090	0.0089	0.0106	0.0104	0.0013	0.0043	0.0093	0.0004	0.0252	0.0101	0.0089	0.0085	0.0112	0.0084	0.0084	0.0073	0.0095	0.0114	0.0080	0.0078	0.0097	0.0095	0.0014	0.0110	0.0060	0.0069	0.0010	0.0288	0.0170	0.0104	0.0071	0.0114	0.078	0.52492	T	0.008	0.69154	D	0.999	0.77913	D	0.946	0.68276	D	.	.	.	.	0.999304	0.21385	N	2.045	0.56016	M	0.75	0.50192	T	-3.38	0.66780	D	0.252	0.28498	-0.9168	0.45984	T	0.151	0.47962	T	9	0.0057114363	0.00127	T	.	.	.	0.112	0.31546	.	.	0.426436156839	0.42259	0.1382083603234133	0.13744	0.720615140143	0.62189	0.374426335096	0.21464	T	0.107574	0.41989	T	-0.37865	0.03178	T	-0.305004	0.44194	T	0.0129402226686282	0.00223	T	0.647735	0.25884	T	0.3645914	0.58183	0.3721306	0.62428	0.2962175	0.52563	0.3721306	0.62427	-9.186	0.68887	D	.	.	0.175	0.52418	B	.;.;.	.;.;.	4.470458	0.69653	25.4	0.99860464885756628	0.93911	0.76354	0.37441	D	AEFBI	0.270147	0.38627	N	0.448306124971353	0.64105	4.657982	0.460413712390989	0.65389	4.817518	0.999817320763763	0.43459	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.1	5.1	0.68917	0.945000	0.28654	.	.	0.665000	0.62972	0.884000	0.31069	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	13.718	0.62194	964	0.07719	.;.;.	.	.	.	.	rs61759535	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	0.005035	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.015152	0.05	1163.43	37	chr17	76280707	.	T	C	1163.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.836;DP=404;ExcessHet=0;FS=4.23;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.525;SOR=0.365	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1175,0,1042	9	0	1	0
chr17	76469309	76469309	C	G	exonic	AANAT	.	nonsynonymous SNV	AANAT:NM_001088:exon3:c.C300G:p.D100E,AANAT:NM_001166579:exon6:c.C435G:p.D145E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.0267432342891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.45756	D	0.019	0.72224	D	0.992	0.64738	D	0.844	0.60373	P	0.000000	0.84330	D	0.044772	0.999274	0.46519	D	2.845	0.82663	M	1.98	0.55945	T	-1.55	0.39314	N	0.696	0.70088	-0.9140	0.46351	T	0.121	0.42101	T	10	0.6101575	0.67399	D	0.026743	0.49621	D	0.279	0.59619	0.618	0.75232	0.705817104749	0.70325	0.715930743043982	0.71536	0.0598001417922	0.06652	0.526738226414	0.42575	T	0.171302	0.51937	T	0.0917855	0.63389	D	-0.105933	0.62934	T	0.973727881908417	0.70213	D	0.925907	0.77272	D	0.6136177	0.73422	0.63211656	0.78535	0.6136177	0.73423	0.63211656	0.78536	-5.504	0.46422	T	.	.	0.612	0.73037	P	.;.;.	.;.;.	2.374005	0.30465	18.45	0.9966257590620301	0.78011	0.76675	0.37624	D	AEFDBHCI	0.442370	0.50012	N	0.0590456403539382	0.44559	2.727792	-0.117817477567166	0.34671	1.997053	0.0450048801370104	0.14635	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	4.98	-0.195	0.12586	0.891000	0.27944	.	.	0.599000	0.40250	0.517000	0.27088	0.000000	0.08366	0.974000	0.55675	0.0:0.8688:0.0:0.1312	13.184	0.59094	934	0.15400	.;GNAT domain|GNAT domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	741.43	35	chr17	76469309	.	C	G	741.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.739;DP=379;ExcessHet=0;FS=2.533;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.176;SOR=0.386	GT:AD:DP:GQ:PL	0/1:22,30:52:99:753,0,592	9	0	1	0
chr17	78171999	78171999	G	C	exonic	SYNGR2	.	stoploss	SYNGR2:NM_001363778:exon3:c.G827C:p.X276S	.	425	1036	59	2	0	63	0.0295082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0079	0.0018	0.0076	0	0.0048	0.0099	0.0165	0.0083	0.0067334	1041	154602	rs143144653	0.0067	0.0067	0.0064	0.0071	0.0240	0.0066	0.0066	0.0208	0.0195	0.0017	0.0083	0.0146	0	0.0058	0.0240	0.0066	0.0080	0.0085	0.0063	0.0063	0.0066	0.0060	0.0135	0.0060	0.0058	0.0120	0.0115	0.0013	0	0.0135	0.0109	0	0.0051	0.0204	0.0079	0.0104	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.001	0.00004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.75592	0.00016	T	-0.847572	0.00991	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.232574	0.02928	0.427	0.50376417526431616	0.04373	0.07884	0.13873	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999987626685079	0.51787	0.256867	0.04430	0	0.261133	0.04861	0	0.203592	0.04532	1	0.375513	0.06772	0	0.0496666	0.09133	2.0	-0.67	0.10812	-0.824000	0.04545	-0.255000	0.10474	-1.506000	0.01022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2093:0.0:0.4797:0.311	2.049	0.03351	923	0.18507	.	TK1|AFMID|LGALS3BP|TMC8|SYNGR2	Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Whole_Blood	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2495.14	33	chr17	78171999	.	G	C	2495.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.7;DP=474;ExcessHet=0.2348;FS=2.702;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.89;MQRankSum=0;QD=12.8;ReadPosRankSum=0.374;SOR=0.941	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1480,0,1316	8	0	2	0
chr17	81537057	81537057	G	-	exonic	FSCN2	.	frameshift deletion	FSCN2:NM_001077182:exon5:c.1528delG:p.T511Pfs*23,FSCN2:NM_012418:exon5:c.1456delG:p.T487Pfs*23	Retinitis pigmentosa 30	2	1518	2	0	0	2	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.049e-06	4.104e-06	1.501e-06	4.647e-06	5.722e-05	7.1e-07	4.8e-07	1.935e-05	1.1e-05	0	0	0	0	0	0	0	0	5.722e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	404.39	39	chr17	81537056	.	CG	C	404.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.996;DP=314;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.161;SOR=0.693	GT:AD:DP:GQ:PL	0/1:14,14:28:99:416,0,415	9	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	3102.99	249	chr18	14513679	.	T	G	3102.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.54;DP=1927;ExcessHet=10.3881;FS=9.616;InbreedingCoeff=-0.6668;MLEAC=8;MLEAF=0.4;MQ=51.26;MQRankSum=-8.212;QD=2.03;ReadPosRankSum=-3.641;SOR=1.694	GT:AD:DP:GQ:PL	0/1:130,26:156:99:352,0,3452	2	0	8	0
chr18	23536743	23536743	G	A	exonic	NPC1	.	stopgain	NPC1:NM_000271:exon21:c.C3175T:p.R1059X	Niemann-Pick disease, type C1, Autosomal recessive;Niemann-Pick disease, type D, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	187023	Niemann-Pick_disease,_type_C|Niemann-Pick_disease,_type_C1	MONDO:MONDO:0018982,MedGen:C0220756,Orphanet:646|MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220,Orphanet:646	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs786204455	3.42e-06	3.42e-06	5.445e-06	1.375e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.311e-05	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000930	0.41028	D	0.276784	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.966	0.97643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.101587	0.98466	39	0.99707147960794151	0.81074	0.94715	0.62081	D	AEFGBI	0.139991	0.26177	N	0.452690348008076	0.64357	4.688219	0.233351713113969	0.51707	3.350977	0.999987565186162	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.93	2.77	0.31614	4.021000	0.56907	4.591000	0.43958	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.632:0.368	16.385	0.83338	839	0.37672	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1710.43	36	chr18	23536743	.	G	A	1710.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.053;DP=489;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.668;SOR=0.709	GT:AD:DP:GQ:PL	0/1:100,79:179:99:1722,0,2352	9	0	1	0
chr18	31008383	31008383	G	A	exonic	DSC3	.	nonsynonymous SNV	DSC3:NM_001941:exon10:c.C1406T:p.P469L,DSC3:NM_024423:exon10:c.C1406T:p.P469L	.	1	1504	16	1	0	18	0.00594845	.	.	.	2337321	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.769	0.166685088767	0.0007	0.000599042	0.0006	0	0.0003	0	0	0.0010	0.0011	6.058e-05	0.0005821	90	154602	rs114245564	0.0007	0.0007	0.0007	0.0007	0.0040	0.0006	0.0006	0.0027	0.0023	8.961e-05	0.0003	0	0	0.0002	0.0040	0.0008	0.0010	0.0002	0.0007	0.0007	0.0008	0.0007	0.0016	0.0006	0.0006	0.0011	0.0009	7.224e-05	0	0.0016	0	0	0.0005	0.0034	0.0011	0.0019	0.0002	0.0	0.91255	D	0.005	0.72224	D	0.996	0.90584	D	0.958	0.88582	D	0.005479	0.32770	N	0.000000	1	0.81001	D	3.51	0.92865	H	-1.9	0.84628	D	-9.55	0.98488	D	0.914	0.91621	0.822	0.94676	D	0.814	0.93729	D	10	0.74781996	0.75417	D	0.166685	0.84525	D	0.769	0.92212	.	.	0.97301215591	0.97272	0.8723910396505815	0.87205	0.26967950493	0.29493	0.483787536621	0.36579	T	0.717995	0.92008	D	0.15163	0.69420	D	0.404497	0.92259	D	0.394849210977554	0.28748	T	0.989679	0.96647	D	0.7826117	0.82814	0.6335947	0.78616	0.7826117	0.82816	0.6335947	0.78617	-9.249	0.70003	D	.	.	0.515	0.70341	A	.;.	.;.	5.205348	0.87333	29.2	0.99846538883569147	0.92663	0.99033	0.90246	D	AEFBI	0.855418	0.77254	D	1.05904075351223	0.97298	15.89692	0.963641066868319	0.97792	16.77534	0.999999943122216	0.74766	0.638212	0.43195	0	0.627178	0.54094	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.34	5.34	0.75982	6.776000	0.74817	11.770000	0.95838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.187	0.93632	849	0.35778	Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.010101	0.002717	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	1562.43	33	chr18	31008383	.	G	A	1562.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=458;ExcessHet=0;FS=6.291;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.28;SOR=0.829	GT:AD:DP:GQ:PL	0/1:76,64:140:99:1574,0,1847	9	0	1	0
chr18	35497843	35497843	G	C	exonic	INO80C	.	nonsynonymous SNV	INO80C:NM_001098817:exon1:c.C32G:p.T11S,INO80C:NM_194281:exon1:c.C32G:p.T11S	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0046	0.00259585	0.0049	0.0011	0.0044	0	0.0005	0.0050	0.0023	0.0124	0.0046895	725	154602	rs142615973	0.0059	0.0059	0.0057	0.0061	0.0110	0.0058	0.0057	0.0105	0.0102	0.0012	0.0039	0.0016	5.33e-05	0.0007	0.0072	0.0062	0.0061	0.0110	0.0040	0.0040	0.0042	0.0038	0.0087	0.0037	0.0036	0.0066	0.0059	0.0011	0	0.0046	0.0017	0	0.0005	0.0068	0.0063	0.0061	0.0087	0.354	0.18000	T	0.049	0.48336	D	0.007	0.14184	B	0.011	0.15521	B	0.089493	0.20425	N	0.537042	1	0.08975	N	1.155	0.29575	L	.	.	.	-0.72	0.20358	N	0.249	0.33030	-1.0241	0.22377	T	0.022	0.09559	T	9	0.0042429864	0.00085	T	.	.	.	0.047	0.12962	0.088	0.00943	0.152612264143	0.14878	0.25346530868476075	0.25260	0.00395600209074	0.12011	0.423425346613	0.28308	T	0.008884	0.08431	T	-0.532999	0.00369	T	-0.528997	0.19387	T	0.0231104224058204	0.01037	T	0.563244	0.20399	T	0.13163888	0.30677	0.13530593	0.32400	0.13163888	0.30677	0.13530593	0.32399	-2.74	0.11353	T	.	.	0.432	0.61295	A	.;.;.;.;.;.	.;.;.;.;.;.	2.261002	0.28888	17.95	0.9220023961927466	0.21570	0.03696	0.08973	N	ALL	0.131494	0.25046	N	-0.731417821595529	0.15143	0.7605722	-0.561203880842036	0.20508	1.105262	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.61	3.72	0.41857	2.440000	0.44513	3.780000	0.39787	0.676000	0.76740	0.966000	0.33990	0.999000	0.35428	0.998000	0.85391	0.0:0.2283:0.7717:0.0	10.499	0.43983	895	0.25842	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.020468	0.000000	0.000000	0.000000	0.007576	0.05	813.43	38	chr18	35497843	.	G	C	813.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.796;DP=404;ExcessHet=0;FS=0.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-1.398;SOR=0.512	GT:AD:DP:GQ:PL	0/1:32,33:65:99:825,0,872	9	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1077.5	85	chr18	65824683	.	C	G	1077.5	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.26;DP=852;ExcessHet=10.3881;FS=190.814;InbreedingCoeff=-0.7227;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.05;SOR=10.452	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,12:58:6:0|1:65824683_C_G:6,0,1005:65824683	1	0	8	1
chr18	78993717	78993717	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1726A:p.G576S	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00564127734618	0.0002	.	0.0002	0	0	0	0	4.698e-05	0.0021	0.0016	0.0001488	23	154602	rs376550476	7.553e-05	8.277e-05	4.517e-05	0.0001	0.0010	6.368e-05	5.936e-05	0.0009	0.0008	6.228e-05	0	0.0004	0	0	0.0004	6.413e-06	5.163e-05	0.0010	3.283e-05	3.281e-05	0	6.714e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	2.405e-05	0	0	0	0	0	0	0	0	0.0008	0.195	0.20759	T	0.498	0.16376	T	0.07	0.23866	B	0.005	0.11217	B	0.006350	0.32094	N	0.213955	1	0.08975	N	1.455	0.36767	L	3.35	0.08547	T	-1.56	0.37759	N	0.142	0.14622	-0.9285	0.44357	T	0.012	0.04747	T	10	0.018353522	0.00399	T	0.005641	0.14591	T	0.026	0.05648	.	.	0.299427821978	0.29548	0.35816941693963383	0.35730	0.409573402614	0.41769	0.273529291153	0.06606	T	0.024249	0.38900	T	-0.589863	0.00168	T	-0.676422	0.07204	T	0.0264562012873222	0.01468	T	0.691131	0.30052	T	0.043939248	0.06937	0.04265139	0.05128	0.043939248	0.06937	0.04265139	0.05127	-3.163	0.12141	T	.	.	0.071	0.04477	B	.;.;.;.	.;.;.;.	1.065060	0.14470	11.04	0.71998401907729881	0.09821	0.55929	0.29988	D	AEFDBCI	0.271850	0.38761	N	-1.01838387538899	0.08222	0.3847651	-0.961788461378512	0.10651	0.5377615	0.98510935163251	0.30829	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.14	2.4	0.28568	1.210000	0.31975	2.821000	0.34963	-0.110000	0.15115	0.825000	0.30060	0.998000	0.33993	0.002000	0.04165	0.2091:0.0:0.6543:0.1365	5.629	0.16776	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1782.43	76	chr18	78993717	.	G	A	1782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=885;ExcessHet=0;FS=7.281;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.096;SOR=0.397	GT:AD:DP:GQ:PL	0/1:71,75:146:99:1794,0,1526	9	0	1	0
chr19	616432	616432	C	A	exonic	HCN2	.	nonsynonymous SNV	HCN2:NM_001194:exon8:c.C2628A:p.D876E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.978007204354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.463e-05	3.552e-06	1.877e-06	3.243e-06	7.3e-07	2e-07	8.6e-07	2.4e-07	0	0	0	0	0	0	3.243e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.944	0.02662	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.967275	0.25856	N	1.61	0.41143	L	-4.26	0.97078	D	-0.2	0.10136	N	0.056	0.02759	-0.1680	0.78477	T	0.641	0.87473	D	9	0.23685226	0.40775	T	0.978007	0.99879	D	0.219	0.51417	0.25	0.18757	0.487670455057	0.48399	0.3411996603622228	0.34032	1.01988730095	0.75077	0.890513300896	0.95325	D	0.225386	0.59010	T	-0.0828773	0.39245	T	-0.356824	0.38420	T	0.0549709312617779	0.06352	T	0.360464	0.08297	T	0.0562255	0.11033	0.04526727	0.06052	0.0562255	0.11033	0.04526727	0.06052	-2.368	0.04940	T	.	.	0.098	0.16451	B	.	.	1.177492	0.15679	12.02	0.97607662530695471	0.34887	0.03428	0.08560	N	AEFDHI	0.072296	0.14424	N	-0.992390280506066	0.08766	0.4122564	-0.932042838423473	0.11340	0.5771219	0.00108109281431683	0.08194	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	2.37	-0.27	0.12287	-0.831000	0.04512	-1.096000	0.06343	-0.388000	0.05360	0.396000	0.26137	0.000000	0.08366	0.021000	0.11733	0.2829:0.5419:0.0:0.1753	2.585	0.04536	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	369.43	34	chr19	616432	.	C	A	369.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.902;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.54;MQRankSum=0;QD=11.19;ReadPosRankSum=1.15;SOR=0.818	GT:AD:DP:GQ:PL	0/1:17,16:33:99:381,0,370	9	0	1	0
chr19	3543566	3543566	C	A	exonic	C19orf71	.	nonsynonymous SNV	C19orf71:NM_001135580:exon3:c.C334A:p.H112N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0372368786659	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1001730263	1.657e-05	1.779e-05	1.705e-05	1.607e-05	2.136e-05	1.103e-05	9.22e-06	1.422e-05	1.188e-05	0	0	0	0	0	0	2.136e-05	0	0	1.316e-05	1.314e-05	2.572e-05	0	2.943e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0	0.074	0.34621	T	0.15	0.32461	T	0.557	0.38282	P	0.208	0.37221	B	0.333854	0.14070	N	0.618704	0.967986	0.81001	N	1.445	0.36358	L	1.46	0.32238	T	-4.22	0.75854	D	0.222	0.24883	-1.0528	0.13628	T	0.066	0.27052	T	10	0.11646089	0.21969	T	0.037237	0.57491	D	0.033	0.08068	0.276	0.22845	0.0920862733494	0.08535	0.08188235058227927	0.08123	.	.	.	.	.	0.022662	0.17431	T	-0.205707	0.19988	T	-0.533261	0.18961	T	0.224771857261658	0.21699	T	0.677432	0.28627	T	0.21137129	0.43460	0.221466	0.46958	0.21137129	0.43460	0.221466	0.46957	-4.341	0.28748	T	.	.	0.323	0.54718	B	.	.	2.845984	0.37562	20.5	0.98005277149306436	0.37513	0.80623	0.40213	D	AEFBCI	0.206746	0.33298	N	-0.200986721986876	0.33093	1.873689	-0.196505569096845	0.31665	1.794145	0.992459290176803	0.32845	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.51	3.47	0.38831	0.130000	0.15676	1.972000	0.29992	0.469000	0.21855	0.029000	0.20367	0.961000	0.29326	0.191000	0.21631	0.0:0.8897:0.0:0.1103	8.648	0.33178	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	678.43	40	chr19	3543566	.	C	A	678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.093;DP=408;ExcessHet=0;FS=3.281;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.479;SOR=0.392	GT:AD:DP:GQ:PL	0/1:39,31:70:99:690,0,1202	9	0	1	0
chr19	3633475	3633475	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_012398:exon17:c.G1966A:p.A656T	Lethal congenital contractural syndrome 3, Autosomal recessive	2	1435	81	4	0	89	0.0300777	.	.	.	728142	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0094	0.00678914	0.0090	0.0071	0.0047	0.0003	0.0011	0.0105	0.0115	0.0190	0.0072767	1125	154602	rs35014191	0.0089	0.0089	0.0086	0.0092	0.0245	0.0088	0.0087	0.0210	0.0197	0.0076	0.0036	0.0119	0.0001	0.0021	0.0245	0.0091	0.0097	0.0148	0.0072	0.0071	0.0077	0.0066	0.0095	0.0068	0.0067	0.0087	0.0085	0.0058	0	0.0060	0.0101	0.0002	0.0012	0.0137	0.0093	0.0109	0.0095	0.654	0.04786	T	0.289	0.21078	T	0.0	0.02946	B	0.0	0.01387	B	0.166351	0.17507	N	0.500976	0.999999	0.58761	D	0.46	0.12951	N	1.77	0.25841	T	-0.18	0.09796	N	0.221	0.24758	-0.9682	0.37571	T	0.014	0.05513	T	10	0.0037704706	0.00070	T	.	.	.	0.044	0.11924	.	.	0.2338531098	0.23012	.	.	0.312340773906	0.33537	0.507543921471	0.39879	T	0.061217	0.31596	T	-0.697437	0.00038	T	-0.762273	0.03031	T	0.0212357035127134	0.00825	T	0.524848	0.17228	T	0.02699458	0.01829	0.05359838	0.09058	0.020723399	0.00641	0.05359838	0.09057	-3.673	0.18920	T	.	.	0.065	0.01859	B	.	.	0.556133	0.09249	6.029	0.95846893947190781	0.27981	0.09924	0.15567	N	AEFDBI	0.030074	0.02958	N	-1.54024051632928	0.01592	0.0695826	-1.52061237559987	0.02186	0.1001557	0.0531868005994395	0.14930	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.39	-6.18	0.01906	-0.473000	0.06694	-0.968000	0.06755	-0.919000	0.02208	0.568000	0.27489	0.006000	0.19429	0.419000	0.27206	0.0:0.2685:0.0:0.7315	12.367	0.54565	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027919	0.015464	0.039402	0.014793	0.050000	0.008621	0.033951	0.018939	0.05	894.43	36	chr19	3633475	.	C	T	894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.974;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.821;SOR=0.701	GT:AD:DP:GQ:PL	0/1:39,37:76:99:906,0,992	9	0	1	0
chr19	4164626	4164626	C	G	exonic	CREB3L3	.	nonsynonymous SNV	CREB3L3:NM_001271995:exon5:c.C697G:p.L233V,CREB3L3:NM_001271996:exon5:c.C694G:p.L232V,CREB3L3:NM_001271997:exon5:c.C700G:p.L234V,CREB3L3:NM_032607:exon5:c.C700G:p.L234V	.	426	1084	12	0	0	12	0.00550459	.	.	.	2107445	CREB3L3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.445	0.0865862899059	7.7e-05	0.00119808	0.0011	9.722e-05	0.0002	0	0	0.0005	0.0011	0.0060	0.0009379	145	154602	rs199855279	0.0006	0.0006	0.0003	0.0008	0.0065	0.0005	0.0005	0.0061	0.0059	5.974e-05	0.0002	0.0005	0	0	0.0035	0.0001	0.0007	0.0065	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0046	0.0040	2.406e-05	0	0.0003	0.0003	0	0	0	0.0003	0.0009	0.0064	0.05	0.39575	D	0.007	0.69154	D	0.662	0.43974	P	0.215	0.44011	B	0.000048	0.53742	D	0.077781	0.974887	0.39142	D	2.755	0.80505	M	-1.74	0.83413	D	-2.48	0.54059	N	0.509	0.62188	0.289	0.87388	D	0.632	0.87090	D	10	0.011080146	0.00244	T	0.086586	0.74767	D	0.445	0.74727	.	.	0.927350273213	0.92660	0.2954007802062201	0.29453	0.155983573288	0.17608	0.596422791481	0.52399	T	0.510736	0.82697	D	-0.325442	0.06462	T	-0.237361	0.51055	T	0.0582912226679409	0.06897	T	0.956904	0.83579	D	0.14352398	0.32983	0.13784626	0.32937	0.14352398	0.32982	0.13784626	0.32936	-9.073	0.68299	D	0.5323115917537679	0.60301	0.444	0.63886	A	.;.;.;.	.;.;.;.	2.419255	0.31107	18.64	0.99057696694821962	0.51413	0.92436	0.55708	D	AEFGBI	0.890591	0.82575	D	0.00695416808564403	0.42171	2.535917	-0.0506952438786307	0.37460	2.193625	3.90697413804634E-4	0.06781	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.99	2.81	0.31971	2.543000	0.45411	2.676000	0.33982	-0.194000	0.09177	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1442:0.7757:0.0:0.0801	9.108	0.35871	946	0.12043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.003788	0.05	1128.43	36	chr19	4164626	.	C	G	1128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.939;DP=399;ExcessHet=0;FS=4.418;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-1.081;SOR=0.334	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1140,0,1440	9	0	1	0
chr19	4358129	4358129	A	G	exonic	MPND	.	nonsynonymous SNV	MPND:NM_001159846:exon9:c.A1133G:p.Y378C,MPND:NM_001300862:exon11:c.A1283G:p.Y428C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0121096540249	.	.	9.336e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs747315621	1.93e-05	1.847e-05	1.551e-05	2.319e-05	3.165e-05	1.322e-05	1.133e-05	1.36e-06	9.9e-07	3.165e-05	0	0.0004	0	0	0	4.634e-06	0.0002	1.262e-05	3.941e-05	3.94e-05	6.422e-05	1.344e-05	9.646e-05	1.715e-05	1.129e-05	3.248e-05	1.914e-05	9.646e-05	0	0	0.0006	0	0	0	0	0	0	0.135	0.26192	T	0.007	0.69154	D	0.063	0.23376	B	0.04	0.23831	B	0.000000	0.84330	U	0.000000	0.99977	0.81001	D	.	.	.	.	.	.	-2.43	0.53258	N	0.455	0.50418	-0.9866	0.33445	T	0.137	0.45413	T	8	0.13556245	0.25795	T	0.01211	0.30386	T	0.216	0.50959	.	.	0.315903272564	0.31202	0.5737436554434296	0.57303	.	.	.	.	.	.	.	.	-0.253828	0.13633	T	-0.365714	0.37389	T	0.346722424030304	0.26890	T	0.849215	0.53201	T	.	.	.	.	.	.	.	.	-8.661	0.65491	D	.	.	0.154	0.34183	B	.;.	.;.	3.234185	0.44118	21.9	0.98377031217021416	0.40812	0.94803	0.62383	D	AEFDBHCI	0.849015	0.76584	D	-0.153972341567435	0.35066	2.009464	-0.0207007052070644	0.38781	2.289783	0.999908004981217	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.636168	0.56350	0	.	.	4.9	3.88	0.43959	5.574000	0.67124	3.036000	0.36061	0.691000	0.84096	1.000000	0.71638	0.957000	0.29195	0.993000	0.69303	0.9053:0.0:0.0947:0.0	8.521	0.32434	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	952.43	39	chr19	4358129	.	A	G	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.27;DP=422;ExcessHet=0;FS=3.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.376;SOR=0.407	GT:AD:DP:GQ:PL	0/1:45,34:79:99:964,0,1164	9	0	1	0
chr19	4898028	4898028	A	G	exonic	ARRDC5	.	nonsynonymous SNV	ARRDC5:NM_001367189:exon2:c.T311C:p.L104P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	34.45	5	chr19	4898028	.	A	G	34.45	.	AC=2;AF=0.111;AN=18;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=17.23;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	8	1	0	1
chr19	5594041	5594055	CGCTCCCGCTCCATG	-	exonic	SAFB2	.	nonframeshift deletion	SAFB2:NM_014649:exon15:c.2043_2057del:p.M682_R686del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0	0	0	0.0006	0	0.0003	1.94e-05	3	154602	rs748161277	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	9.79e-05	0.0002	0.0002	2.469e-05	0.0004	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0003	0.0002	7.215e-05	0	0.0001	0.0003	0	0	0	0.0003	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1079.39	41	chr19	5594040	.	CCGCTCCCGCTCCATG	C	1079.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.014;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.627;SOR=0.836	GT:AD:DP:GQ:PL	0/1:22,28:50:99:1091,0,838	9	0	1	0
chr19	5719945	5719947	CCC	-	exonic	LONP1	.	nonframeshift deletion	LONP1:NM_004793:exon1:c.186_188del:p.G63del	CODAS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.926e-05	0	0.0015	0	0	0	0	0	6.5e-06	1	154602	rs751406962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1167.39	34	chr19	5719944	.	GCCC	G	1167.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.216;DP=342;ExcessHet=0;FS=3.871;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=-0.368;SOR=0.289	GT:AD:DP:GQ:PL	0/1:27,30:57:99:1179,0,1043	9	0	1	0
chr19	6361708	6361708	A	C	exonic	CLPP	.	nonsynonymous SNV	CLPP:NM_006012:exon1:c.A134C:p.Q45P	Perrault syndrome 3, Autosomal recessive	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0139409055014	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1003287000	1.109e-05	1.094e-05	4.356e-06	1.808e-05	0.0002	6.66e-06	5.28e-06	2.575e-05	1.634e-05	0	0	0	0	0	0.0002	4.709e-06	7.098e-05	6.761e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.034	0.52727	D	0.453	0.36131	P	0.127	0.32738	B	0.033273	0.24919	N	0.402653	0.997661	0.22562	N	0.46	0.12951	N	.	.	.	0.16	0.05217	N	0.187	0.20395	-1.0597	0.11830	T	0.026	0.11176	T	9	0.10147992	0.18544	T	0.013941	0.33715	T	0.084	0.24469	0.449	0.50957	0.261638197198	0.25763	0.5988824998327508	0.59819	0.918722139017	0.71365	0.595567584038	0.52279	T	0.138479	0.47199	T	-0.0937202	0.37462	T	-0.372399	0.36609	T	0.247177168726921	0.22747	T	0.471053	0.13966	T	0.13161634	0.30673	0.16564664	0.38310	0.13161634	0.30673	0.16564664	0.38309	-3.179	0.12226	T	.	.	0.056	0.00452	B	.	.	0.971792	0.13488	10.00	0.87898376866580563	0.17564	0.08177	0.14139	N	ALL	0.178809	0.30608	N	-0.840000287526107	0.12296	0.5985209	-0.850215119958	0.13283	0.688179	0.999999999997655	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.45	0.919	0.18518	-0.350000	0.07769	0.469000	0.18693	-0.330000	0.05784	0.014000	0.18986	0.084000	0.22431	0.005000	0.06747	0.503:0.1684:0.1617:0.1669	1.007	0.01395	793	0.45818	.	.	.	.	.	.	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	0.002116	0.000000	0.000000	0.009091	0.000000	0.000000	0.006536	0.000000	0.05	904.43	33	chr19	6361708	.	A	C	904.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.152;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-1.812;SOR=0.651	GT:AD:DP:GQ:PL	0/1:47,41:88:99:916,0,1184	9	0	1	0
chr19	7529119	7529119	G	A	exonic	MCOLN1	.	nonsynonymous SNV	MCOLN1:NM_020533:exon10:c.G1153A:p.V385I	Mucolipidosis IV, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3703285	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.0251333720172	.	0.000399361	1.65e-05	0.0002	0	0	0	0	0	0	2.59e-05	4	154602	rs550264072	1.368e-05	1.368e-05	1.498e-05	1.238e-05	7.557e-05	8.94e-06	7.26e-06	2.003e-05	1.055e-05	2.987e-05	6.708e-05	0	7.557e-05	1.88e-05	0	8.993e-06	3.311e-05	0	2.627e-05	2.625e-05	1.285e-05	4.029e-05	7.217e-05	8.14e-06	5.14e-06	1.914e-05	1.03e-05	7.217e-05	0	0	0	0	0	0	0	0.0005	0	0.13	0.26740	T	0.274	0.22084	T	0.006	0.13644	B	0.009	0.14300	B	0.001252	0.39669	N	0.244527	0.998076	0.46174	D	1.89	0.50145	L	-1.83	0.84122	D	-0.55	0.16799	N	0.208	0.23125	-0.5756	0.65791	T	0.386	0.74150	T	10	0.14777279	0.27994	T	0.025133	0.48109	D	0.136	0.36778	.	.	0.749927015805	0.74766	0.3446438373945996	0.34377	0.352532212189	0.37085	0.575296342373	0.49424	T	0.15494	0.49645	T	-0.249737	0.14131	T	-0.359838	0.38071	T	0.077054182709583	0.09606	T	0.732927	0.34859	T	0.07378976	0.16514	0.06450458	0.12937	0.07378976	0.16514	0.06450458	0.12936	-8.956	0.67413	D	0.17839980350318455	0.22862	0.072	0.04316	B	.	.	2.903260	0.38485	20.7	0.98871094049096242	0.47649	0.85520	0.44661	D	AEFGBI	0.331213	0.43101	N	-0.312442045261299	0.28674	1.58359	-0.185843385104111	0.32056	1.820015	0.981304745005637	0.30245	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.27	3.14	0.35196	1.693000	0.37360	5.132000	0.47660	0.676000	0.76740	0.977000	0.34929	1.000000	0.68203	0.947000	0.49155	0.1679:0.0:0.8321:0.0	9.929	0.40681	846	0.36215	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2279.43	51	chr19	7529119	.	G	A	2279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.492;DP=526;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=-0.606;SOR=0.729	GT:AD:DP:GQ:PL	0/1:57,86:143:99:2291,0,1329	9	0	1	0
chr19	7730841	7730841	T	A	exonic	CLEC4G	.	nonsynonymous SNV	CLEC4G:NM_001244856:exon5:c.A266T:p.Q89L,CLEC4G:NM_198492:exon5:c.A302T:p.Q101L	.	636	861	20	5	0	30	0.0171233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006993	0.012500	0.004310	0.000000	0.000000	0.000000	0.012097	0.010417	0.05	332.43	30	chr19	7730841	.	T	A	332.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.264;DP=272;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.8;SOR=0.765	GT:AD:DP:GQ:PL	0/1:20,14:34:99:344,0,602	9	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	74.97	385	chr19	8888826	.	T	*	74.97	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.96;DP=3805;ExcessHet=15.1594;FS=9.58;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=57.53;MQRankSum=-10.06;QD=0.02;ReadPosRankSum=1.04;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,66:358:99:0|1:8888826_T_*:2072,0,10164:8888826	2	0	8	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	1508.95	40	chr19	8900017	.	C	G	1508.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.689;DP=2342;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.88;MQRankSum=-15.15;QD=0.85;ReadPosRankSum=1.45;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,22:274:99:0|1:8900009_C_T:165,0,10488:8900009	3	0	7	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	880.23	222	chr19	8908637	.	C	G	880.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.15;DP=1758;ExcessHet=2.8389;FS=21.496;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=58.66;MQRankSum=-8.787;QD=0.95;ReadPosRankSum=0.427;SOR=3.3	GT:AD:DP:GQ:PL	0/1:184,14:198:34:34,0,7596	4	0	5	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	871.27	217	chr19	8908644	.	C	G	871.27	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.73;DP=1791;ExcessHet=2.8389;FS=21.084;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.278;MQ=58.43;MQRankSum=-8.048;QD=0.95;ReadPosRankSum=0.948;SOR=3.012	GT:AD:DP:GQ:PL	0/1:180,14:195:46:46,0,7509	4	0	5	1
chr19	8939543	8939543	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon5:c.G31412A:p.R10471K	.	434	1080	8	0	0	8	0.00369004	.	.	.	2815404	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00218904695316	0.0052	0.00319489	0.0052	0.0010	0.0048	0	0.0086	0.0068	0.0069	0.0018	0.0048188	745	154602	rs147543535	0.0066	0.0066	0.0067	0.0064	0.0071	0.0065	0.0064	0.0069	0.0069	0.0009	0.0047	0.0169	0	0.0088	0.0009	0.0071	0.0067	0.0019	0.0050	0.0050	0.0051	0.0048	0.0063	0.0047	0.0046	0.0058	0.0057	0.0014	0.0099	0.0054	0.0202	0	0.0072	0.0034	0.0063	0.0090	0.0015	0.0	0.91255	D	0.089	0.40426	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.24	0.02590	T	-0.92	0.24676	N	0.073	0.04668	-0.9982	0.30423	T	0.006	0.02206	T	8	0.0044139028	0.00090	T	0.002189	0.04124	T	0.010	0.01040	.	.	0.0806252709748	0.07271	0.20082274769980346	0.19999	.	.	0.241119429469	0.02892	T	.	.	.	-0.668193	0.00056	T	-0.728164	0.04410	T	0.0099043597099172	0.00131	T	0.211379	0.02567	T	.	.	.	.	.	.	.	.	-3.465	0.15945	T	.	.	0.140	0.30582	B	.	.	0.589568	0.09582	6.355	0.52587376443082878	0.04776	0.01091	0.04015	N	AEFBI	0.019632	0.00699	N	-1.00990654510154	0.08397	0.3935977	-1.10968312981351	0.07514	0.3658214	1.4237924925357E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	-0.807	0.10323	0.074000	0.14525	.	.	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0:0.4488:0.0:0.5512	6.564	0.21697	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.000000	0.002924	0.000000	0.008621	0.003049	0.000000	0.05	1102.43	39	chr19	8939543	.	C	T	1102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.443;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=1.31;SOR=0.673	GT:AD:DP:GQ:PL	0/1:25,36:61:99:1114,0,736	9	0	1	0
chr19	8973725	8973725	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G7414A:p.V2472I	.	428	1093	1	0	0	1	0.000457247	.	.	.	2811533	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.038	0.000999084052726	0.0054	0.00179712	0.0053	0.0014	0.0038	0	0.0064	0.0080	0.0078	6.131e-05	0.0052522	812	154602	rs142278154	0.0073	0.0073	0.0075	0.0071	0.0087	0.0072	0.0071	0.0086	0.0085	0.0010	0.0040	0.0003	0	0.0068	0.0014	0.0087	0.0055	0.0002	0.0055	0.0055	0.0057	0.0053	0.0094	0.0052	0.0051	0.0088	0.0086	0.0012	0.0011	0.0046	0	0	0.0059	0.0034	0.0094	0.0057	0.0002	0.0	0.91255	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.3	0.02437	T	-0.24	0.10833	N	0.036	0.01068	-0.9273	0.44530	T	0.006	0.02055	T	7	0.004289329	0.00086	T	9.99E-4	0.01073	T	0.038	0.09825	.	.	0.136095386433	0.13204	0.06460640882461109	0.06399	.	.	0.424237787724	0.28420	T	.	.	.	-0.691843	0.00041	T	-0.75553	0.03275	T	0.042550897210317	0.04156	T	0.246775	0.03632	T	.	.	.	.	.	.	.	.	-4.129	0.25716	T	.	.	0.114	0.22825	B	.	.	0.373315	0.07453	4.091	0.62577137540306527	0.06998	0.00042	0.00346	N	AEFDGBHCI	0.018746	0.00592	N	-0.773409634749327	0.14005	0.6942353	-0.987013381913116	0.10076	0.5052477	0.0029268178305843	0.09804	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.225	0.225	0.14598	0.470000	0.21795	.	.	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	.	.	.	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	1	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	3414.43	116	chr19	8973725	.	C	T	3414.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.759;DP=1339;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.752;SOR=0.724	GT:AD:DP:GQ:PL	0/1:114,130:244:99:3426,0,2891	9	0	1	0
chr19	8974738	8974738	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.C6401T:p.T2134I	.	.	.	.	.	.	.	.	.	.	.	2811534	MUC16-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.091	0.00124070720829	0.0032	0.00139776	0.0034	0.0009	0.0024	0	0.0056	0.0050	0.0056	6.057e-05	0.0034282	530	154602	rs183496438	0.0050	0.0050	0.0052	0.0049	0.0060	0.0049	0.0049	0.0059	0.0059	0.0006	0.0020	0.0003	0	0.0057	0.0003	0.0060	0.0038	0.0001	0.0041	0.0040	0.0040	0.0041	0.0070	0.0038	0.0037	0.0064	0.0062	0.0008	0.0011	0.0027	0	0	0.0056	0	0.0070	0.0033	0	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.28	0.02487	T	-1.44	0.35399	N	0.029	0.00666	-0.9231	0.45126	T	0.008	0.02842	T	7	0.0044414103	0.00091	T	0.001241	0.01658	T	0.091	0.26358	.	.	0.101711395817	0.09552	0.10168362463982893	0.10099	.	.	0.490618556738	0.37525	T	.	.	.	-0.513247	0.00481	T	-0.502059	0.22134	T	0.0273807779103841	0.01599	T	0.237776	0.03353	T	.	.	.	.	.	.	.	.	-4.351	0.28886	T	.	.	0.183	0.39681	B	.	.	0.496615	0.08656	5.428	0.28931227529973647	0.01510	0.00657	0.02850	N	AEFGBI	0.023592	0.01336	N	-0.594606807413959	0.19107	0.9974567	-0.853523037627541	0.13203	0.683643	4.16915037276686E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.235	0.235	0.14697	0.796000	0.26646	.	.	0.373000	0.20310	0.008000	0.17931	0.021000	0.20819	0.059000	0.15899	.	.	.	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2036.43	116	chr19	8974738	.	G	A	2036.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.837;DP=1117;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.384;SOR=0.7	GT:AD:DP:GQ:PL	0/1:96,82:178:99:2048,0,2626	9	0	1	0
chr19	9565999	9565999	C	T	exonic	ZNF121	.	nonsynonymous SNV	ZNF121:NM_001008727:exon4:c.G1114A:p.E372K,ZNF121:NM_001308269:exon5:c.G1114A:p.E372K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00102270968806	0.0006	0.000998403	0.0007	0.0002	0.0003	0	0.0018	0.0010	0	0	0.0006792	105	154602	rs142394580	0.0007	0.0007	0.0007	0.0006	0.0007	0.0007	0.0006	0.0007	0.0007	3.04e-05	0.0004	3.9e-05	0	0.0023	0.0004	0.0007	0.0008	1.194e-05	0.0007	0.0007	0.0006	0.0008	0.0009	0.0006	0.0006	0.0007	0.0007	0.0002	0	0.0005	0	0	0.0032	0	0.0009	0.0009	0	0.521	0.07235	T	0.05	0.48080	T	0.975	0.58077	D	0.538	0.48781	P	.	.	.	.	1	0.08975	N	1.28	0.32218	L	3.2	0.07236	T	-2.34	0.51811	N	0.172	0.19055	-1.0448	0.15884	T	0.031	0.13155	T	9	0.009579092	0.00216	T	0.001023	0.01120	T	0.048	0.13305	.	.	0.043077524339	0.03247	0.047824020942107866	0.04725	0.774958124404	0.64968	0.239520043135	0.02747	T	0.151144	0.49095	T	-0.636214	0.00088	T	-0.727187	0.04456	T	0.0472852260027183	0.05015	T	0.391661	0.09743	T	0.056790665	0.11220	0.07720338	0.17176	0.056790665	0.11219	0.07720338	0.17176	-5.909	0.45512	T	.	.	0.277	0.51032	B	.;.	.;.	1.240324	0.16358	12.49	0.96839886452135338	0.31297	0.00005	0.00104	N	AEFDBHCI	0.025743	0.01815	N	-0.429494239062672	0.24441	1.319688	-0.693773716119763	0.17115	0.908639	0.850758366374547	0.25040	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.3	1.3	0.20778	-2.305000	0.01214	.	.	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.329000	0.25179	0.0:1.0:0.0:0.0	8.511	0.32381	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	951.43	38	chr19	9565999	.	C	T	951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.737;SOR=0.755	GT:AD:DP:GQ:PL	0/1:37,34:71:99:963,0,965	9	0	1	0
chr19	13285126	13285126	C	A	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon21:c.G3637T:p.D1213Y,CACNA1A:NM_001127222:exon21:c.G3634T:p.D1212Y	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	1521	1	0	0	1	0.000328623	.	.	.	426285	Developmental_and_epileptic_encephalopathy,_42|Episodic_ataxia_type_2|Spinocerebellar_ataxia_type_6|Migraine,_familial_hemiplegic,_1|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0008457,MedGen:C0752124,OMIM:183086,Orphanet:98758|MONDO:MONDO:0020756,MedGen:C1832884,OMIM:141500,Orphanet:569|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.195	0.0476742013943	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201269793	2.326e-05	2.326e-05	2.314e-05	2.338e-05	8.944e-05	1.674e-05	1.477e-05	2.985e-05	1.804e-05	0	8.944e-05	0	0	0	0	2.698e-05	0	0	7.887e-05	7.88e-05	6.425e-05	9.416e-05	0.0006	4.498e-05	3.513e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	4.41e-05	0	0	0.008	0.58626	D	0.027	0.55341	D	.	.	.	.	.	.	0.819365	0.06874	N	1.098850	0.655486	0.33003	D	1.845	0.48678	L	1.28	0.35960	T	-4.9	0.81514	D	0.614	0.64563	-0.8976	0.48234	T	0.140	0.45941	T	10	0.19524652	0.35368	T	0.047674	0.63029	D	0.195	0.47612	0.238	0.16912	0.639976270493	0.63700	0.5619502930104315	0.56122	0.187512237378	0.21068	0.561688899994	0.47506	T	0.068971	0.33593	T	-0.260887	0.12797	T	-0.357476	0.38346	T	0.478609218957081	0.31846	T	0.947705	0.79824	D	0.19888611	0.41808	0.2130414	0.45798	0.19888611	0.41808	0.2130414	0.45797	-14.859	0.96437	D	0.22294043448666434	0.30087	0.213	0.51798	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.032265	0.59633	24.1	0.98587359988502632	0.43323	0.86537	0.45838	D	AEFDBHCI	0.506571	0.53724	D	0.400355355991355	0.61443	4.345404	0.414195229727383	0.62447	4.46038	0.0388051330761208	0.14364	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.92	4.92	0.64147	1.237000	0.32298	4.780000	0.44829	0.599000	0.40250	0.450000	0.26566	0.999000	0.35428	0.934000	0.47231	0.0:0.8172:0.0:0.1828	7.646	0.27488	923	0.18507	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	866.43	35	chr19	13285126	.	C	A	866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.124;DP=384;ExcessHet=0;FS=6.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.244;SOR=0.647	GT:AD:DP:GQ:PL	0/1:33,40:73:99:878,0,801	9	0	1	0
chr19	13963629	13963629	C	T	exonic	RFX1	.	nonsynonymous SNV	RFX1:NM_002918:exon18:c.G2479A:p.G827S	.	382	1136	4	0	0	4	0.00175747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.00736238725974	0.0023	0.000998403	0.0019	0.0004	0.0004	0.0009	0.0013	0.0031	0	0.0002	0.0014036	217	154602	rs147242039	0.0018	0.0018	0.0018	0.0018	0.0040	0.0017	0.0017	0.0027	0.0023	0.0005	0.0008	0.0029	0.0004	0.0014	0.0040	0.0020	0.0021	0.0002	0.0015	0.0015	0.0016	0.0014	0.0024	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0015	0.0020	0.0004	0.0017	0.0034	0.0024	0.0028	0	0.734	0.03764	T	0.686	0.05995	T	0.107	0.26081	B	0.044	0.24394	B	0.000000	0.84330	D	0.050264	0.999339	0.46701	D	-0.065	0.04868	N	1.27	0.36146	T	-1.48	0.36189	N	0.159	0.16586	-1.0588	0.12058	T	0.037	0.16160	T	10	0.007933676	0.00180	T	0.007362	0.19523	T	0.134	0.36365	.	.	0.0675242888579	0.06100	0.4885811683913005	0.48778	1.13632118652	0.78799	0.461911380291	0.33573	T	0.138134	0.47145	T	-0.497451	0.00591	T	-0.493188	0.23058	T	0.0197417471307011	0.00676	T	0.910709	0.68343	D	0.282156	0.51255	0.23849182	0.49173	0.282156	0.51254	0.23849182	0.49172	-2.967	0.09830	T	.	.	0.075	0.05404	B	.	.	3.431726	0.47700	22.5	0.99086576950421479	0.52100	0.48510	0.28223	N	AEFDBCI	0.386394	0.46677	N	-0.440972605028472	0.24046	1.295702	-0.201870427470649	0.31469	1.781234	0.999999999914542	0.74766	0.72623	0.87236	0	0.643519	0.57511	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	5.33	5.33	0.75683	1.284000	0.32855	4.851000	0.45376	0.498000	0.22619	0.777000	0.29437	1.000000	0.68203	0.997000	0.79791	0.0:0.915:0.0:0.085	11.373	0.48949	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009100	0.005155	0.004087	0.026471	0.000000	0.017241	0.006135	0.003788	0.05	748.43	36	chr19	13963629	.	C	T	748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.307;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.885;SOR=0.721	GT:AD:DP:GQ:PL	0/1:22,29:51:99:760,0,523	9	0	1	0
chr19	16736665	16736665	T	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001007525:exon4:c.T113C:p.I38T	.	423	1071	27	1	0	29	0.0133579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.00658946	0.0144	0.0017	0	0	0.0188	0.0108	0.0109	0.0172	0.0030013	464	154602	rs117353506	0.0103	0.0098	0.0101	0.0106	0.0166	0.0102	0.0101	0.0158	0.0155	0.0016	0.0033	0.0147	0.0008	0.0178	0.0104	0.0104	0.0090	0.0166	0.0078	0.0078	0.0077	0.0080	0.0155	0.0075	0.0073	0.0127	0.0117	0.0017	0	0.0039	0.0118	0	0.0175	0.0068	0.0110	0.0028	0.0155	0.579	0.06779	T	0.616	0.07543	T	0.0	0.02946	B	0.001	0.04355	B	0.433353	0.04717	N	1.357460	1	0.08975	N	-1.445	0.00556	N	2.1	0.19990	T	1.27	0.00985	N	0.031	0.01658	-0.9820	0.34538	T	0.009	0.03448	T	10	0.0031747222	0.00053	T	.	.	.	0.020	0.03691	.	.	.	.	0.11415311732290649	0.11343	0.182636527527	0.20529	0.348507583141	0.17702	T	4.5E-4	0.00158	T	-0.776052	0.00012	T	-0.873896	0.00706	T	3.4540116757853e-05	0.00000	T	0.212579	0.02598	T	0.02336708	0.01070	0.0443684	0.05732	0.02336708	0.01070	0.0443684	0.05732	-1.137	0.01165	T	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-0.012211	0.04199	1.022	0.37945950114817406	0.02530	0.00191	0.01107	N	AEFGBI	0.014931	0.00259	N	-1.47867275774287	0.02001	0.08791167	-1.408386698553	0.03168	0.1472257	0.00454810159913068	0.10609	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.6	-2.14	0.06725	-0.053000	0.11802	-0.037000	0.12718	-1.433000	0.01113	0.000000	0.06391	0.000000	0.08366	0.231000	0.22761	0.0:0.3142:0.4857:0.2001	5.798	0.17660	824	0.40336	.;.;.;.	.	.	.	.	rs117353506	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009804	0.000000	0.024194	0.004425	0.000000	0.045455	0.011628	0.012500	0.1	5067.14	36	chr19	16736665	.	T	C	5067.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.831;DP=733;ExcessHet=0.2348;FS=1.114;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.1;SOR=0.599	GT:AD:DP:GQ:PL	0/1:106,113:219:99:2696,0,2680	8	0	2	0
chr19	17022092	17022092	G	A	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon2:c.C182T:p.T61M	Anterior segement dysgenesis 8, Autosomal recessive	428	1092	1	1	0	3	0.00137174	.	.	.	2103652	CPAMD8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0019	.	0.0037	0.0002	0.0014	0	0.0256	0.0040	0.0033	0	0.0023609	365	154602	rs186779378	0.0028	0.0028	0.0028	0.0027	0.0026	0.0027	0.0027	0.0025	0.0024	0.0006	0.0013	0.0007	2.535e-05	0.0176	0.0010	0.0026	0.0023	2.365e-05	0.0028	0.0028	0.0022	0.0034	0.0026	0.0025	0.0024	0.0023	0.0021	0.0005	0	0.0020	0.0012	0	0.0171	0.0103	0.0026	0.0009	0	0.187	0.21385	T	0.343	0.19131	T	.	.	.	.	.	.	0.391969	0.13243	N	0.669254	1	0.08975	N	.	.	.	1.22	0.55775	T	-2.0	0.46146	N	0.125	0.14622	-1.0590	0.12007	T	0.051	0.21611	T	10	0.010692209	0.00237	T	.	.	.	0.051	0.14325	.	.	0.101711395817	0.09552	.	.	0.148201495314	0.16711	0.377703130245	0.21930	T	0.037709	0.24575	T	-0.548723	0.00297	T	-0.564657	0.15942	T	0.00423873721844161	0.00045	T	0.334567	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.586975	0.09555	6.330	0.71657000680136362	0.09703	0.02646	0.07250	N	AEFDGBCIJ	0.043370	0.06847	N	-1.63853439224072	0.01084	0.04706102	-1.66356516165487	0.01307	0.0589845	0.999263500262267	0.38940	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.526803	0.08958	0	.	.	3.06	-3.25	0.04765	0.429000	0.21131	-0.554000	0.08512	-0.719000	0.03822	0.009000	0.18154	0.000000	0.08366	0.004000	0.06068	0.1617:0.0:0.5007:0.3376	4.889	0.13075	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003040	0.010204	0.005450	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	635.43	34	chr19	17022092	.	G	A	635.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.695;SOR=0.812	GT:AD:DP:GQ:PL	0/1:21,25:46:99:647,0,425	9	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8514.43	92	chr19	20624371	.	G	*	8514.43	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.15;DP=689;ExcessHet=0.3476;FS=0.648;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.571;MQ=58.36;MQRankSum=-3.697;QD=16.53;ReadPosRankSum=1.87;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,65:65:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1152,128,0:20624327	4	3	0	3
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8119.48	92	chr19	20624379	.	C	*	8119.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.28;DP=686;ExcessHet=0.3476;FS=1.394;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.571;MQ=58.2;MQRankSum=-3.191;QD=15.67;ReadPosRankSum=0.506;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,65:65:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1152,128,0:20624327	4	3	0	3
chr19	21183736	21183736	A	G	exonic	ZNF431	.	nonsynonymous SNV	ZNF431:NM_001319124:exon5:c.A1436G:p.H479R,ZNF431:NM_133473:exon5:c.A1433G:p.H478R,ZNF431:NM_001319126:exon6:c.A1160G:p.H387R,ZNF431:NM_001319127:exon6:c.A1112G:p.H371R	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.00739976855454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.004	0.74150	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.798611	0.29142	N	2.785	0.81254	M	-0.27	0.67367	T	-7.58	0.95276	D	0.209	0.23253	-0.3862	0.72460	T	0.472	0.79695	T	9	0.78775024	0.78393	D	0.007	0.19630	T	0.231	0.53208	0.775	0.90080	0.669898965789	0.66711	0.12047323719260056	0.11974	0.550751557973	0.51932	0.522294342518	0.41950	T	0.32579	0.69648	T	-0.0477848	0.44783	T	-0.306416	0.44042	T	0.981172740459442	0.73763	D	0.913309	0.69109	D	0.29948932	0.52859	0.22288305	0.47147	0.29948932	0.52859	0.22288305	0.47146	-10.685	0.77902	D	.	.	0.845	0.79500	P	.	.	2.437996	0.31376	18.72	0.98728672334215895	0.45318	0.82137	0.41411	D	AEFBCI	0.302120	0.41045	N	0.194709525310886	0.50944	3.279832	-0.0752933973573061	0.36415	2.11891	0.00163163268491718	0.08729	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.04	1.04	0.19220	6.584000	0.73948	.	.	0.563000	0.28513	1.000000	0.71638	0.000000	0.08366	0.049000	0.15107	1.0:0.0:0.0:0.0	6.994	0.23951	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1327.43	35	chr19	21183736	.	A	G	1327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.193;DP=422;ExcessHet=0;FS=2.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.85;MQRankSum=1.1;QD=11.96;ReadPosRankSum=-1.483;SOR=0.6	GT:AD:DP:GQ:PL	0/1:51,60:111:99:1339,0,1227	9	0	1	0
chr19	21294236	21294236	T	A	exonic	ZNF708	.	nonsynonymous SNV	ZNF708:NM_001297561:exon3:c.A538T:p.I180L,ZNF708:NM_001297560:exon4:c.A538T:p.I180L,ZNF708:NM_021269:exon4:c.A730T:p.I244L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00171705738883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	0	4.129e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.319e-05	6.58e-06	6.57e-06	1.286e-05	0	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	0.165	0.23271	T	0.093	0.39799	T	.	.	.	.	.	.	.	.	.	.	0.982533	0.24956	N	.	.	.	2.24	0.17923	T	-0.65	0.18877	N	0.059	0.03069	-0.9781	0.35435	T	0.014	0.05465	T	9	0.051650822	0.05079	T	0.001717	0.02882	T	0.024	0.04979	.	.	0.165133752707	0.16062	0.010182798639410778	0.00980	0.105121137339	0.11884	0.292081832886	0.09226	T	.	.	.	-0.351257	0.04648	T	-0.742333	0.03793	T	0.106490677033784	0.13057	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32969	B	.	.	0.446572	0.08165	4.900	0.89073130106039755	0.18488	0.13350	0.17806	N	AEFBI	0.051525	0.09111	N	-1.15522017357557	0.05694	0.2602689	-1.13496951564565	0.07041	0.3410368	0.00656685664709986	0.11251	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.05	1.05	0.19280	-0.464000	0.06765	.	.	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.0:1.0	7.056	0.24278	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1160.43	34	chr19	21294236	.	T	A	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.585;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.82;MQRankSum=-1.582;QD=11.16;ReadPosRankSum=1.12;SOR=0.71	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1172,0,1525	9	0	1	0
chr19	21536295	21536295	T	A	exonic	ZNF429	.	nonsynonymous SNV	ZNF429:NM_001346916:exon3:c.T50A:p.F17Y,ZNF429:NM_001001415:exon4:c.T242A:p.F81Y,ZNF429:NM_001346912:exon4:c.T236A:p.F79Y,ZNF429:NM_001346914:exon4:c.T146A:p.F49Y,ZNF429:NM_001346913:exon5:c.T146A:p.F49Y,ZNF429:NM_001346915:exon5:c.T146A:p.F49Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00144174704633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.405e-06	1.368e-06	0	2.83e-06	2.47e-05	2.3e-07	9e-08	4.1e-06	1.53e-06	0	0	0	0	0	0	0	0	2.47e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.383	0.25591	T	0.997	0.70673	D	0.989	0.78396	D	.	.	.	.	1	0.08975	N	2.2	0.62015	M	3.25	0.06762	T	-2.68	0.57275	D	0.244	0.32148	-1.0002	0.29860	T	0.041	0.17573	T	9	0.1538648	0.29034	T	0.001442	0.02164	T	0.040	0.10527	0.275	0.22687	0.110078149338	0.10416	0.009690869746312482	0.00931	0.15326966785	0.17296	0.466576367617	0.34211	T	0.03375	0.23043	T	-0.305842	0.08119	T	-0.677097	0.07161	T	0.425138741731644	0.29880	T	0.463154	0.14720	T	0.11131964	0.26307	0.08127684	0.18457	0.11131964	0.26307	0.08127684	0.18457	-5.571	0.42526	T	.	.	0.093	0.31608	B	.;.	.;.	1.832998	0.23289	15.96	0.89216345620272497	0.18608	0.00130	0.00805	N	AEFBCI	0.020918	0.00876	N	-0.5275966608558	0.21192	1.122834	-0.857418098847048	0.13109	0.67825	0.54525536615808	0.21288	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	1.32	-2.64	0.05757	0.027000	0.13512	.	.	0.327000	0.19478	0.004000	0.16614	0.000000	0.08366	0.094000	0.17991	0.3231:0.2187:0.2138:0.2444	0.052	0.00011	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1347.43	33	chr19	21536295	.	T	A	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.092;DP=438;ExcessHet=0;FS=5.437;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.964;SOR=1.348	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1359,0,1259	9	0	1	0
chr19	22663887	22663887	A	C	exonic	ZNF492	.	nonsynonymous SNV	ZNF492:NM_020855:exon4:c.A218C:p.K73T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	.	0.00239617	0.0021	0.0002	0	0.0227	0.0004	0.0005	0.0044	0.0009	0.00152	235	154602	rs182350726	0.0006	0.0006	0.0006	0.0007	0.0118	0.0006	0.0006	0.0109	0.0106	0	0.0001	0.0039	0.0118	7.579e-05	0.0004	9.637e-05	0.0019	0.0012	0.0009	0.0009	0.0007	0.0011	0.0181	0.0007	0.0007	0.0151	0.0140	0	0	0.0001	0.0040	0.0181	0	0	0.0001	0.0014	0.0027	0.006	0.61437	D	0.067	0.44302	T	0.992	0.64738	D	0.917	0.65306	D	.	.	.	.	1	0.08975	N	3.3	0.90472	M	3.15	0.07820	T	-4.75	0.80256	D	0.156	0.16168	-1.0747	0.08410	T	0.040	0.17191	T	9	0.006600052	0.00149	T	.	.	.	0.039	0.10176	.	.	0.373173300195	0.36924	0.007697829241541273	0.00735	2.30488031714	0.96506	0.403195083141	0.25514	T	0.021306	0.16617	T	-0.548209	0.00299	T	-0.539969	0.18300	T	0.0913139892996536	0.11373	T	0.641436	0.25361	T	0.18524426	0.39878	0.12098622	0.29193	0.18524426	0.39878	0.12098622	0.29192	-6.798	0.52544	T	.	.	0.106	0.19679	B	.	.	1.862249	0.23653	16.10	0.98899941722877971	0.48163	0.02431	0.06858	N	AEBI	0.042936	0.06725	N	-0.471710861083964	0.23011	1.232725	-0.814302994396891	0.14149	0.7378355	1.45021957866012E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.17	-0.16	0.12720	0.228000	0.17594	.	.	0.264000	0.18430	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.7056:0.0:0.2944:0.0	3.234	0.06357	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	0.000541	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.000000	0.05	1152.43	60	chr19	22663887	.	A	C	1152.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=420;ExcessHet=0;FS=0.836;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=1.09;QD=14.23;ReadPosRankSum=-0.076;SOR=0.802	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1164,0,892	9	0	1	0
chr19	22757930	22757930	C	T	exonic	ZNF99	.	stopgain	ZNF99:NM_001080409:exon4:c.G1979A:p.W660X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.00399361	0.0019	0.0001	0	0.0215	0.0002	0.0004	0.0045	0.0008	0.0017788	275	154602	rs148884059	0.0007	0.0007	0.0007	0.0008	0.0155	0.0007	0.0007	0.0145	0.0141	2.988e-05	8.949e-05	0.0039	0.0155	7.49e-05	0.0003	9.265e-05	0.0022	0.0012	0.0013	0.0013	0.0010	0.0015	0.0282	0.0011	0.0011	0.0242	0.0227	5.643e-05	0	0.0004	0.0043	0.0282	0	0	0.0001	0.0016	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.025	0.00571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.171458	0.25013	T	0.00879901	0.70905	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	4.612865	0.73176	25.9	0.87854393034042289	0.17531	0.00088	0.00587	N	AEFBI	0.013149	0.00165	N	-0.280667390874064	0.29894	1.661958	-0.766582310151963	0.15315	0.8048706	3.71806308195691E-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	-2.57	0.05885	-2.924000	0.00758	.	.	-0.734000	0.03706	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3589:0.3515:0.2897	4.301	0.10369	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001060	0.000000	0.001366	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1943.43	141	chr19	22757930	.	C	T	1943.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.433;DP=596;ExcessHet=0;FS=1.419;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.1;MQRankSum=-1.036;QD=15.3;ReadPosRankSum=-1.248;SOR=0.655	GT:AD:DP:GQ:PL	0/1:55,72:127:99:1955,0,1448	9	0	1	0
chr19	30009234	30009239	GATGAC	-	exonic	URI1	.	nonframeshift deletion	URI1:NM_001252641:exon8:c.862_867del:p.D292_D293del,URI1:NM_003796:exon8:c.916_921del:p.D310_D311del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0.0002	0.0002	0	0.0002	3.84e-05	1	26028	rs775535103	8.478e-05	0.0002	9.742e-05	7.202e-05	0.0001	7.258e-05	6.801e-05	7.926e-05	7.406e-05	0	0.0001	0	0	9.453e-05	0	9.43e-05	1.666e-05	8.147e-05	0.0001	0.0002	0.0002	0.0001	0.0002	9.77e-05	8.281e-05	0.0001	0.0001	7.238e-05	0	0.0001	0	0.0002	9.484e-05	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1033.39	99	chr19	30009233	.	TGATGAC	T	1033.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=981;ExcessHet=0;FS=3.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=3.28;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,29:84:99:0|1:30009233_TGATGAC_T:1045,0,1791:30009233	9	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 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	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.2	1287.57	84	chr19	32999679	.	G	A	1287.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.493;DP=1779;ExcessHet=1.5895;FS=0.727;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=54.17;MQRankSum=-5.929;QD=1.54;ReadPosRankSum=2.84;SOR=0.708	GT:AD:DP:GQ:PL	0/1:168,27:195:99:109,0,4940	6	0	4	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1684.09	82	chr19	37887095	.	C	T	1684.09	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.008;DP=898;ExcessHet=4.5998;FS=234.958;InbreedingCoeff=-0.6664;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.77;ReadPosRankSum=0.853;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,28:121:99:0|1:37887095_C_T:430,0,3382:37887095	0	0	6	4
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1987.18	91	chr19	37887096	.	A	G	1987.18	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.166;DP=879;ExcessHet=2.8389;FS=279.749;InbreedingCoeff=-0.5261;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=0.833;SOR=9.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,28:121:99:0|1:37887095_C_T:430,0,3382:37887095	2	0	5	3
chr19	37890060	37890060	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T3611C:p.I1204T,WDR87:NM_031951:exon6:c.T3494C:p.I1165T	.	425	1091	5	1	0	7	0.00319781	.	.	.	2229803	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00833711579251	.	.	0.0002	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs758520294	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0012	0.0010	3.165e-05	0.0002	0	0	0	0.0021	0.0002	0.0004	0.0008	0.0002	0.0002	0.0003	0.0002	0.0015	0.0002	0.0002	0.0007	0.0005	0	0.0033	0.0001	0	0	0	0.0034	0.0003	0.0014	0.0015	0.416	0.10115	T	0.162	0.31225	T	0.0	0.02946	B	0.0	0.01387	B	0.000613	0.00648	N	4.052960	1	0.08975	N	.	.	.	2.91	0.10008	T	-0.68	0.19509	N	0.037	0.01911	-0.9787	0.35299	T	0.020	0.08546	T	10	0.016028851	0.00337	T	0.008337	0.22080	T	0.029	0.06676	.	.	0.0297737177859	0.01360	0.024826889145623813	0.02433	.	.	0.362318187952	0.19724	T	.	.	.	-0.648623	0.00074	T	-0.788751	0.02199	T	0.0165518793706152	0.00417	T	0.346465	0.07620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.24532	B	.;.	.;.	0.287644	0.06639	3.139	0.24587196415232887	0.01094	0.01817	0.05653	N	AEFGBI	0.042187	0.06514	N	-1.21600318709541	0.04767	0.2158694	-1.27286455628604	0.04801	0.2273266	0.437327525487447	0.20424	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.29	-1.7	0.07721	0.621000	0.24112	.	.	-0.076000	0.16278	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3051:0.1559:0.3874:0.1515	1.961	0.03180	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002445	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.05	2097.43	113	chr19	37890060	.	A	G	2097.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.421;DP=597;ExcessHet=0;FS=1.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.016;SOR=0.756	GT:AD:DP:GQ:PL	0/1:82,78:160:99:2109,0,2160	9	0	1	0
chr19	38734855	38734855	C	T	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon15:c.G1702A:p.A568T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0123639991189	.	.	4.244e-05	0	0	0	0	7.746e-05	0	0	3.23e-05	5	154602	rs750315892	2.191e-05	2.257e-05	2.18e-05	2.202e-05	5.974e-05	1.586e-05	1.357e-05	1.663e-05	1.425e-05	5.974e-05	0	0	0	0	0	2.428e-05	4.97e-05	0	2.628e-05	2.627e-05	1.285e-05	4.035e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.038	0.42783	D	0.119	0.39954	T	0.004	0.12183	B	0.002	0.06944	B	0.239627	0.15740	N	0.620129	1	0.08975	N	1.715	0.44382	L	1.46	0.32238	T	-1.69	0.40274	N	0.303	0.34228	-1.0333	0.19395	T	0.056	0.23753	T	10	0.10209006	0.18691	T	0.012364	0.30863	T	0.034	0.08419	0.367	0.37524	0.254761474806	0.25079	0.24446629570988485	0.24360	0.0604135776628	0.06713	0.332114040852	0.15254	T	0.04745	0.27726	T	-0.350615	0.04688	T	-0.561115	0.16273	T	0.0491500688427592	0.05350	T	0.656534	0.26618	T	0.14248285	0.32787	0.11007891	0.26537	0.14248285	0.32787	0.11007891	0.26536	-6.539	0.50586	T	.	.	0.083	0.12228	B	.;.	.;.	1.584963	0.20279	14.67	0.94986304704948099	0.25931	0.06282	0.12275	N	AEFDGBCI	0.118368	0.23148	N	-0.78551077520995	0.13686	0.6760529	-0.837271604009136	0.13594	0.7060332	0.999999750419889	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.662026	0.63922	0	.	.	4.1	1.86	0.24489	0.934000	0.28510	2.150000	0.30904	0.599000	0.40250	0.012000	0.18695	0.974000	0.29927	0.006000	0.07323	0.0:0.7748:0.0:0.2252	6.86	0.23244	680	0.59965	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.05	831.43	33	chr19	38734855	.	C	T	831.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.575;DP=380;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.04;SOR=0.555	GT:AD:DP:GQ:PL	0/1:38,37:75:99:843,0,951	9	0	1	0
chr19	38945097	38945097	C	G	exonic	FBXO17	.	nonsynonymous SNV	FBXO17:NM_024907:exon5:c.G565C:p.A189P,FBXO17:NM_148169:exon5:c.G592C:p.A198P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0166350756511	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1039081740	2.737e-06	2.736e-06	1.361e-06	4.126e-06	8.962e-05	6.4e-07	4.3e-07	2.375e-05	1.258e-05	8.962e-05	0	0	0	0	0	8.993e-07	0	0	2.627e-05	2.626e-05	1.284e-05	4.033e-05	9.647e-05	8.14e-06	5.14e-06	3.248e-05	1.914e-05	9.647e-05	0	0	0	0	0	0	0	0	0	0.124	0.27426	T	0.166	0.30828	T	1.0	0.90584	D	0.999	0.92359	D	0.002926	0.35704	N	0.118955	.	.	.	0.83	0.20963	L	1.59	0.28836	T	-2.28	0.50830	N	0.705	0.70878	-0.9370	0.43088	T	0.116	0.41075	T	9	0.73151624	0.74330	D	0.016635	0.37992	T	0.161	0.41658	.	.	0.507031862817	0.50341	0.4806312741349429	0.47983	1.2737914311	0.82358	.	.	.	0.044688	0.26894	T	-0.119082	0.33274	T	-0.408829	0.32360	T	0.698192656040192	0.40633	D	.	.	.	0.14477232	0.33217	0.28989258	0.55011	0.14477232	0.33216	0.28989258	0.55010	-7.839	0.59968	D	.	.	0.304	0.53340	B	.;.	.;.	3.729169	0.53338	23.4	0.99041129319524046	0.51028	0.43789	0.27175	N	AEFDBI	0.180066	0.30737	N	-0.00889660447297425	0.41451	2.479655	0.0100426092953897	0.40179	2.393867	0.0916481878131122	0.16140	0.706548	0.73137	0	0.588066	0.40923	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.58	4.58	0.56077	1.925000	0.39705	1.324000	0.25623	0.549000	0.26987	0.949000	0.33028	0.780000	0.26771	0.165000	0.20815	0.0:0.8108:0.1892:0.0	10.991	0.46763	666	0.61362	F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	920.43	34	chr19	38945097	.	C	G	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=378;ExcessHet=0;FS=2.092;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.754;SOR=0.98	GT:AD:DP:GQ:PL	0/1:32,35:67:99:932,0,695	9	0	1	0
chr19	40843869	40843869	A	G	exonic	CYP2A6	.	nonsynonymous SNV	CYP2A6:NM_000762:exon9:c.T1412C:p.I471T	Coumarin resistance, Autosomal dominant	1	1502	19	0	0	19	0.00628515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	.	0.0006	.	0.0111	0.0006	0.0026	0.1291	0.0005	0.0024	0.0111	0.0030	0.0004463	69	154602	rs5031016	0.0055	0.0066	0.0055	0.0055	0.1362	0.0054	0.0053	0.1331	0.1318	0.0005	0.0017	0.0117	0.1362	0.0004	0.0068	0.0015	0.0081	0.0028	0.0060	0.0069	0.0058	0.0063	0.1272	0.0057	0.0056	0.1189	0.1156	0.0006	0.0022	0.0018	0.0142	0.1272	0.0003	0.0136	0.0020	0.0081	0.0074	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.014717	0.28452	U	0.279854	1	0.08975	N	.	.	.	-0.4	0.69287	T	-3.99	0.73893	D	0.274	0.31027	-1.0839	0.06609	T	0.018	0.07518	T	10	0.0038813949	0.00074	T	.	.	.	0.253	0.56294	.	.	.	.	0.3881246117773247	0.38727	4.01563215202	0.99884	0.478828430176	0.35896	T	.	.	.	-0.27782	0.10900	T	-0.177703	0.56734	T	0.0609264555018425	0.07313	T	0.731327	0.34690	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.37216	B	.	.	4.071743	0.60497	24.2	0.99457983801950189	0.65633	0.84569	0.43652	D	AEFDGBHCI	0.414533	0.48376	N	0.210907081393665	0.51727	3.35171	0.0525245960247107	0.42194	2.547905	0.997483884696846	0.35668	0.608966	0.35542	0	0.606814	0.50340	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	2.87	2.87	0.32523	4.840000	0.62513	.	.	0.496000	0.22519	0.278000	0.25122	0.024000	0.20971	0.171000	0.21011	1.0:0.0:0.0:0.0	10.215	0.42339	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007058	0.000000	0.005450	0.012712	0.000000	0.008621	0.013072	0.000000	0.05	656.43	59	chr19	40843869	.	A	G	656.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=672;ExcessHet=0;FS=2.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.53;MQRankSum=-2.896;QD=2.36;ReadPosRankSum=-0.48;SOR=0.919	GT:AD:DP:GQ:PL	0/1:223,55:278:99:668,0,5003	9	0	1	0
chr19	40848304	40848304	C	A	exonic	CYP2A6	.	nonsynonymous SNV	CYP2A6:NM_000762:exon4:c.G569T:p.R190L	Coumarin resistance, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	757037	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.312	0.0133573829576	.	0.00119808	0.0011	9.614e-05	0.0002	0	0	0	0	0.0081	0.000925	143	154602	rs571335587	0.0005	0.0005	0.0003	0.0007	0.0077	0.0004	0.0004	0.0072	0.0070	0	2.236e-05	0	0.0002	0	0.0005	0	0.0003	0.0077	0.0002	0.0003	9.029e-05	0.0004	0.0075	0.0002	0.0002	0.0056	0.0049	0	0	0	0	0	0	0.0034	0	0	0.0075	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000019	0.62929	U	0.076273	0.97056	0.38807	D	.	.	.	4.87	0.01449	T	-6.0	0.89534	D	0.833	0.82862	-1.0574	0.12414	T	0.019	0.07753	T	10	0.067304075	0.09357	T	0.013357	0.32703	T	0.312	0.63375	0.902	0.97858	0.461845970543	0.45810	0.5540309291374791	0.55330	0.145491712787	0.16441	0.683118224144	0.64716	T	.	.	.	-0.238855	0.15494	T	-0.111169	0.62518	T	0.280504385249554	0.24193	T	0.982102	0.93912	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	0.76764	P	.	.	5.178715	0.86829	29.0	0.99754944722346384	0.84537	0.97533	0.75370	D	AEFBI	0.803802	0.72884	D	0.382337450239645	0.60465	4.235684	0.238952943873192	0.52023	3.380125	0.999985846913211	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	2.69	2.69	0.30923	5.586000	0.67198	.	.	0.350000	0.19923	1.000000	0.71638	0.984000	0.30665	0.221000	0.22489	0.0:1.0:0.0:0.0	12.588	0.55779	525	0.74024	.	.	.	.	.	.	Likely benign	0	0	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	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	2290.43	33	chr19	40848304	.	C	A	2290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=529;ExcessHet=0;FS=2.501;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=1.29;QD=11.63;ReadPosRankSum=0.163;SOR=0.886	GT:AD:DP:GQ:PL	0/1:108,89:197:99:2302,0,2455	9	0	1	0
chr19	40875766	40875766	A	G	exonic	CYP2A7	.	nonsynonymous SNV	CYP2A7:NM_030589:exon8:c.T1259C:p.I420T,CYP2A7:NM_000764:exon9:c.T1412C:p.I471T	.	3	1508	11	0	0	11	0.00363396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	.	0.0189696	0.0098	0.0006	0.0024	0.1093	0.0003	0.0021	0.0103	0.0032	0.0008344	129	154602	rs200525410	0.0025	0.0059	0.0025	0.0024	0.0642	0.0024	0.0024	0.0619	0.0610	0.0003	0.0008	0.0053	0.0642	0.0002	0.0030	0.0008	0.0035	0.0011	0.0032	0.0061	0.0030	0.0033	0.0698	0.0030	0.0029	0.0635	0.0610	0.0004	0.0011	0.0009	0.0085	0.0698	0.0003	0.0069	0.0012	0.0024	0.0030	0.001	0.91255	D	0.001	0.83351	D	0.997	0.70673	D	0.98	0.74843	D	0.014717	0.28452	U	0.279854	1	0.08975	N	2.675	0.78361	M	-0.4	0.69287	T	-3.79	0.74269	D	0.329	0.42541	-1.1489	0.01058	T	0.009	0.03403	T	10	0.0042277277	0.00084	T	.	.	.	0.257	0.56827	.	.	0.776745378001	0.77469	0.6012149412529046	0.60052	3.4135721607	0.99707	0.499792814255	0.38799	T	0.021666	0.16835	T	-0.0207267	0.48749	T	-0.267549	0.48067	T	0.0656934016344075	0.08033	T	0.759324	0.41649	T	0.48969555	0.66485	0.6075213	0.77178	0.48969555	0.66486	0.6075213	0.77179	-8.27	0.62895	D	.	.	0.181	0.39305	B	.;.	.;.	4.594287	0.72701	25.9	0.98915877059138224	0.48454	0.84261	0.43343	D	AEFDGBCI	0.436522	0.49671	N	0.0817997945026348	0.45613	2.815041	-0.128856776648593	0.34232	1.966824	0.999933536041714	0.46732	0.580535	0.33130	0	0.491552	0.07993	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	2.18	2.18	0.26813	6.624000	0.74108	.	.	0.382000	0.20414	0.785000	0.29533	0.000000	0.08366	0.304000	0.24594	1.0:0.0:0.0:0.0	9.085	0.35738	563	0.71062	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007198	0.000000	0.004110	0.012712	0.000000	0.008621	0.013245	0.003937	0.05	723.43	72	chr19	40875766	.	A	G	723.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.117;DP=649;ExcessHet=0;FS=8.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.04;MQRankSum=1.11;QD=5.24;ReadPosRankSum=0.079;SOR=1.574	GT:AD:DP:GQ:PL	0/1:104,34:138:99:735,0,3208	9	0	1	0
chr19	41426222	41426222	G	A	exonic	B3GNT8	.	nonsynonymous SNV	B3GNT8:NM_001385648:exon2:c.C557T:p.S186F,B3GNT8:NM_198540:exon3:c.C557T:p.S186F	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0340720550959	0.0023	0.00159744	0.0027	0.0007	0.0054	0	0.0002	0.0031	0.0033	0.0026	0.002639	408	154602	rs137913069	0.0023	0.0023	0.0022	0.0024	0.0109	0.0023	0.0022	0.0088	0.0080	0.0007	0.0043	0.0038	0	0.0002	0.0109	0.0024	0.0025	0.0028	0.0022	0.0022	0.0023	0.0020	0.0060	0.0020	0.0019	0.0050	0.0047	0.0006	0	0.0060	0.0046	0	0.0002	0.0034	0.0027	0.0009	0.0017	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.741107	0.09776	N	0.889305	0.967866	0.38622	D	1.5	0.37844	L	0.93	0.44065	T	-3.41	0.67129	D	0.217	0.24260	-0.7002	0.60429	T	0.208	0.56730	T	10	0.011784792	0.00256	T	0.034072	0.55422	D	0.278	0.59497	.	.	0.46289702323	0.45912	0.6850469811234646	0.68443	0.653243935436	0.58470	0.565470933914	0.48039	T	0.066533	0.32970	T	-0.391998	0.02611	T	-0.335999	0.40797	T	0.0129328424757217	0.00223	T	0.736326	0.35288	T	0.21279617	0.43641	0.24291565	0.49723	0.21279617	0.43641	0.24291565	0.49722	-7.499	0.57603	T	.	.	0.33	0.55222	B	.	.	4.518750	0.70831	25.6	0.99798363596175832	0.88372	0.85241	0.44356	D	AEFDBCI	0.663140	0.63276	D	0.564019505575301	0.70939	5.575905	0.48267809687269	0.66843	5.005076	0.999999992232519	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.662433	0.64102	0	.	.	4.21	4.21	0.48984	3.264000	0.51256	11.877000	0.98731	0.676000	0.76740	0.812000	0.29879	1.000000	0.68203	0.848000	0.40082	0.0:0.0:1.0:0.0	13.929	0.63487	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.012228	0.020468	0.100000	0.017241	0.012195	0.000000	0.05	3224.43	106	chr19	41426222	.	G	A	3224.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.567;DP=868;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.42;ReadPosRankSum=0.551;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,85:166:99:0|1:41426215_C_T:3236,0,3064:41426215	9	0	1	0
chr19	42271989	42271989	G	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.G206A:p.R69Q,CIC:NM_001379480:exon2:c.G206A:p.R69Q,CIC:NM_001379482:exon2:c.G206A:p.R69Q	.	381	1087	50	4	0	58	0.0259857	.	.	.	2752947	Intellectual_disability,_autosomal_dominant_45|CIC-related_disorder	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0	0	.	.	0	0	.	.	0.0036115	94	26028	rs188464728	0.0030	0.0019	0.0030	0.0029	0.0244	0.0028	0.0027	0.0178	0.0155	0.0007	0.0035	0.0050	0.0001	0.0013	0.0244	0.0030	0.0032	0.0187	0.0026	0.0026	0.0025	0.0028	0.0201	0.0024	0.0023	0.0168	0.0156	0.0004	0	0.0036	0.0026	0.0010	0.0008	0.0136	0.0029	0.0038	0.0201	.	.	.	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	0.999967	0.18878	N	.	.	.	-5.0	0.98525	D	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0054611266	0.00120	T	.	.	.	.	.	.	.	0.58454684225	0.58127	.	.	.	.	.	.	.	0.003292	0.31165	T	-0.326754	0.06361	T	-0.247063	0.50106	T	.	.	.	0.541546	0.26514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.	.;.	0.516583	0.08853	5.633	0.80446239995739754	0.13207	0.31796	0.24427	N	AEFBCI	0.051563	0.09122	N	.	.	.	.	.	.	0.999988671698017	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	-5.5	0.02373	-0.685000	0.05269	-1.411000	0.05502	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.425000	0.27339	0.5491:0.1939:0.2569:0.0	6.592	0.21847	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1347.14	36	chr19	42271989	.	G	A	1347.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.192;DP=399;ExcessHet=0.2348;FS=1.593;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.952;SOR=0.508	GT:AD:DP:GQ:PL	0/1:29,27:56:99:691,0,764	8	0	2	0
chr19	42287057	42287057	G	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001379484:exon3:c.G269A:p.G90E,CIC:NM_001379485:exon3:c.G269A:p.G90E,CIC:NM_015125:exon3:c.G269A:p.G90E,CIC:NM_001304815:exon4:c.G2996A:p.G999E,CIC:NM_001379480:exon4:c.G2996A:p.G999E,CIC:NM_001379482:exon4:c.G2996A:p.G999E	.	417	1103	2	0	0	2	0.000905797	.	.	.	2669099	See_cases	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.107948825106	.	.	8.427e-06	0	0	0	0	1.535e-05	0	0	6.5e-06	1	154602	rs763416532	5.479e-06	6.156e-06	2.726e-06	8.26e-06	0.0002	2.36e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	3.597e-06	1.658e-05	2.319e-05	1.972e-05	1.97e-05	1.284e-05	2.691e-05	4.412e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.002	0.72154	D	0.257	0.39492	T	0.991	0.64070	D	0.766	0.56676	P	.	.	.	.	0.64796	0.32937	D	0.205	0.09354	N	-4.97	0.98468	D	-1.68	0.40082	N	0.577	0.59901	-0.9301	0.44124	T	0.096	0.36029	T	8	0.32193577	0.49550	T	0.107949	0.78425	D	0.089	0.25827	.	.	0.427830603989	0.42401	0.1502565832912238	0.14947	0.433213654183	0.43486	0.673859000206	0.63388	T	0.004745	0.42008	T	0.0983212	0.64110	D	-0.0810589	0.64827	T	0.162007868633253	0.18019	T	0.865613	0.56501	D	0.14626774	0.33491	0.23902562	0.49240	0.14626774	0.33491	0.23902562	0.49239	-4.731	0.33777	T	.	.	0.188	0.40570	B	.;.;.	.;.;.	4.494974	0.70253	25.5	0.98975686107859906	0.49620	0.74834	0.36618	D	AEFDBHCI	0.218171	0.34321	N	0.273929304669584	0.54832	3.647834	0.288167754516497	0.54848	3.648652	0.999998496726187	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	4.29	3.19	0.35720	1.026000	0.29708	8.587000	0.77670	0.614000	0.49286	0.956000	0.33378	1.000000	0.68203	0.909000	0.44452	0.0:0.181:0.6326:0.1864	7.450	0.26405	645	0.63593	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	621.43	39	chr19	42287057	.	G	A	621.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=339;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=1.19;SOR=0.936	GT:AD:DP:GQ:PL	0/1:15,22:37:99:633,0,371	9	0	1	0
chr19	42754576	42754576	G	A	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon4:c.C634T:p.L212F,PSG8:NM_001130167:exon5:c.C1000T:p.L334F,PSG8:NM_182707:exon5:c.C1000T:p.L334F	.	13	1491	17	1	0	19	0.00633122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00344463947793	0.0018	0.00219649	0.0029	0.0003	0.0008	0	0.0003	0.0033	0.0045	0.0069	0.0003881	60	154602	rs138526624	0.0037	0.0037	0.0036	0.0038	0.0070	0.0036	0.0036	0.0066	0.0064	0.0007	0.0018	0.0207	0	0.0009	0.0042	0.0035	0.0039	0.0070	0.0028	0.0028	0.0028	0.0027	0.0069	0.0025	0.0024	0.0050	0.0044	0.0005	0	0.0042	0.0194	0	0.0006	0.0137	0.0031	0.0062	0.0069	0.081	0.40068	T	0.715	0.30045	T	0.071	0.33288	B	0.071	0.37221	B	.	.	.	.	1	0.08975	N	1.265	0.31966	L	-0.67	0.72458	T	-1.53	0.38540	N	0.087	0.14763	-0.9856	0.33687	T	0.150	0.47804	T	9	0.0065600574	0.00149	T	0.003445	0.07755	T	0.190	0.46781	.	.	0.0138822411134	0.00435	0.03401639684023063	0.03349	0.035168581249	0.03706	0.317776501179	0.13084	T	0.017075	0.13992	T	-0.564746	0.00238	T	-0.580688	0.14484	T	0.00582703217703218	0.00064	T	0.166083	0.12757	T	0.039860595	0.05583	0.051991552	0.08479	0.039860595	0.05582	0.051991552	0.08479	-8.873	0.66875	D	.	.	0.081	0.11076	B	.;.;.;.	.;.;.;.	-0.926013	0.00883	0.032	0.75198454189926567	0.10982	0.00073	0.00509	N	AEFI	0.018037	0.00516	N	-1.61674121924936	0.01183	0.05143476	-1.77913934481223	0.00828	0.03699086	3.96889294915688E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.38	-2.76	0.05547	-3.903000	0.00381	-20.000000	0.00162	-3.051000	0.00132	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2365:0.1888:0.2255:0.3492	0.099	0.00043	431	0.80762	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003735	0.000000	0.001359	0.004098	0.000000	0.008621	0.006289	0.003817	0.05	2431.43	33	chr19	42754576	.	G	A	2431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.82;DP=463;ExcessHet=0;FS=0.685;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.94;MQRankSum=-0.732;QD=17.62;ReadPosRankSum=0.986;SOR=0.611	GT:AD:DP:GQ:PL	0/1:60,78:138:99:2443,0,1648	9	0	1	0
chr19	42755266	42755266	G	A	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon3:c.C344T:p.P115L,PSG8:NM_001130167:exon4:c.C710T:p.P237L,PSG8:NM_182707:exon4:c.C710T:p.P237L	.	12	1504	6	0	0	6	0.00199071	0	0.066	.	2765841	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	.	.	.	6.071e-05	0	8.67e-05	0	0	4.617e-05	0.0012	0.0002	3.84e-05	1	26028	rs780177782	4.179e-05	4.241e-05	2.317e-05	6.059e-05	0.0004	3.315e-05	3.005e-05	0.0003	0.0002	0	0	0	2.519e-05	0	0.0004	1.889e-05	6.642e-05	0.0004	5.254e-05	5.25e-05	3.857e-05	6.715e-05	0.0004	2.556e-05	1.829e-05	7.301e-05	3.033e-05	0	0.0011	0	0	0	0	0	7.352e-05	0	0.0004	1.0	0.10245	T	0.653	0.23570	T	0.002	0.15093	B	0.001	0.10090	B	.	.	.	.	0.999991	0.18198	N	1.51	0.38214	L	1.84	0.26885	T	-1.22	0.50337	N	0.066	0.06854	-0.9867	0.33420	T	0.036	0.15334	T	9	0.031339675	0.01268	T	7.46E-4	0.00510	T	0.010	0.01040	.	.	0.0138822411134	0.00435	0.2093215140767652	0.20848	0.00664363069739	0.00580	0.439954578876	0.30571	T	0.001592	0.01030	T	-0.465938	0.00902	T	-0.652018	0.08814	T	0.0177414547010075	0.00504	T	0.0711929	0.12604	T	0.022837056	0.00976	0.029335039	0.01259	0.022837056	0.00975	0.029335039	0.01259	-5.975	0.47182	T	.	.	0.109	0.34492	B	.;.;.;.	.;.;.;.	0.339724	0.07133	3.713	0.16617952444257789	0.00453	0.00548	0.02514	N	AEFI	0.047399	0.07976	N	-1.20162848032802	0.04977	0.2258106	-1.29968004654873	0.04435	0.2092047	1.67146454815707E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.44	0.257	0.14830	-1.920000	0.01662	-9.345000	0.00833	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2621:0.0:0.7379:0.0	3.869	0.08533	421	0.81399	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000571	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	3286.43	42	chr19	42755266	.	G	A	3286.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.317;DP=684;ExcessHet=0;FS=0.458;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.43;MQRankSum=-3.581;QD=12.08;ReadPosRankSum=0.634;SOR=0.743	GT:AD:DP:GQ:PL	0/1:142,130:272:99:3298,0,3504	9	0	1	0
chr19	43613809	43613809	C	T	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1688T:p.P563L	.	420	1085	17	0	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0153751566796	0.0024	0.00199681	0.0055	0.0014	0.0082	0.0019	0	0.0077	0	0.0044	0.0014036	217	154602	rs189487564	0.0044	0.0042	0.0044	0.0044	0.0172	0.0043	0.0043	0.0145	0.0134	0.0007	0.0049	0.0154	0.0003	0.0009	0.0172	0.0042	0.0072	0.0060	0.0033	0.0032	0.0031	0.0034	0.0064	0.0030	0.0029	0.0047	0.0043	0.0007	0	0.0056	0.0161	0.0006	0.0002	0.0068	0.0040	0.0066	0.0064	0.007	0.59928	D	0.01	0.65728	D	0.793	0.44725	P	0.422	0.45143	B	.	.	.	.	0.999999	0.08975	N	0.975	0.24501	L	.	.	.	-4.68	0.79659	D	0.224	0.25130	-1.0707	0.09260	T	0.054	0.22693	T	8	0.005734563	0.00128	T	0.015375	0.36078	T	0.029	0.06676	.	.	0.104622674875	0.10061	0.019280012861044506	0.01881	0.0417772331007	0.04490	0.200203061104	0.00463	T	0.02123	0.16569	T	-0.570039	0.00221	T	-0.59037	0.13634	T	0.0468255951324705	0.04933	T	0.530647	0.17608	T	0.049736846	0.08879	0.08718135	0.20249	0.049736846	0.08878	0.08718135	0.20248	-6.677	0.51637	T	.	.	0.205	0.43325	B	.;.	.;.	1.128449	0.15150	11.63	0.98062548651974801	0.37960	0.06784	0.12808	N	AEFBI	0.054408	0.09890	N	-0.585054194560243	0.19397	1.014898	-0.692573163760456	0.17145	0.9103878	1.94930341135553E-4	0.05898	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.8	2.69	0.30923	-0.702000	0.05171	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.811:0.0:0.189	8.668	0.33294	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005682	0.000000	0.000000	0.004348	0.000000	0.125000	0.000000	0.000000	0.05	3605.43	160	chr19	43613809	.	C	T	3605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=1339;ExcessHet=0;FS=2.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.189;SOR=0.544	GT:AD:DP:GQ:PL	0/1:146,140:286:99:3617,0,3733	9	0	1	0
chr19	44131342	44131342	G	A	exonic	ZNF225	.	nonsynonymous SNV	ZNF225:NM_013362:exon5:c.G728A:p.R243H,ZNF225:NM_001321685:exon6:c.G728A:p.R243H	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00111256620679	0.0018	0.000599042	0.0014	0.0003	0.0008	0	0	0.0022	0	0.0006	0.0015071	233	154602	rs189754665	0.0024	0.0024	0.0025	0.0024	0.0029	0.0024	0.0023	0.0029	0.0028	0.0004	0.0013	0.0014	2.519e-05	0.0001	0.0002	0.0029	0.0017	0.0008	0.0019	0.0019	0.0018	0.0019	0.0031	0.0017	0.0016	0.0025	0.0024	0.0008	0	0.0031	0.0012	0	0.0002	0	0.0029	0.0009	0.0006	0.492	0.07944	T	0.263	0.22828	T	0.994	0.66517	D	0.766	0.56676	P	.	.	.	.	1	0.08975	N	1.14	0.29013	L	3.42	0.05507	T	-1.58	0.38151	N	0.054	0.04547	-0.9863	0.33518	T	0.014	0.05608	T	9	0.0075659156	0.00172	T	0.001113	0.01336	T	0.142	0.37995	.	.	0.251116650651	0.24721	0.024480960759905513	0.02399	0.37284623432	0.38767	0.208990484476	0.00769	T	0.003965	0.03373	T	-0.652491	0.00070	T	-0.709082	0.05343	T	0.0286330944940852	0.01782	T	0.576842	0.20728	T	0.024888055	0.01366	0.033431817	0.02237	0.024888055	0.01365	0.033431817	0.02236	-3.117	0.11492	T	.	.	0.278	0.55713	B	.;.	.;.	2.309853	0.29567	18.16	0.9964347356459311	0.76819	0.02756	0.07444	N	AEFGBI	0.046436	0.07711	N	-0.539811700572955	0.20805	1.099465	-0.678001436027585	0.17511	0.9314648	0.00780157269580083	0.11547	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.97	0.744	0.17503	-1.998000	0.01558	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.3692:0.0:0.4246:0.2062	2.734	0.04913	615	0.66512	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3442.43	38	chr19	44131342	.	G	A	3442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.69;DP=640;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.318;SOR=0.698	GT:AD:DP:GQ:PL	0/1:137,123:260:99:3454,0,3457	9	0	1	0
chr19	49970473	49970473	G	A	exonic	SIGLEC16	.	nonsynonymous SNV	SIGLEC16:NM_001348364:exon3:c.G563A:p.R188K	.	442	1058	22	0	0	22	0.01029	.	.	.	2818621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.127	.	.	0.00179712	0.0027	0.0004	0.0051	0	0	0.0022	0.0099	0.0067	0.0001358	21	154602	rs544619308	0.0014	0.0014	0.0012	0.0015	0.0369	0.0013	0.0013	0.0324	0.0307	0.0013	0.0034	0.0011	0	0	0.0369	0.0010	0.0026	0.0043	0.0014	0.0013	0.0012	0.0016	0.0070	0.0012	0.0012	0.0049	0.0042	0.0003	0	0.0025	0.0010	0	0	0.0468	0.0015	0.0054	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	713.45	45	chr19	49970473	.	G	A	713.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=398;ExcessHet=0;FS=7.133;InbreedingCoeff=-0.0543;MLEAC=1;MLEAF=0.05;MQ=36.36;MQRankSum=-0.53;QD=8.02;ReadPosRankSum=-1.423;SOR=0.218	GT:AD:DP:GQ:PL	0/1:61,28:89:99:725,0,1952	9	0	1	0
chr19	49972089	49972089	T	C	exonic	SIGLEC16	.	nonsynonymous SNV	SIGLEC16:NM_001348364:exon6:c.T1255C:p.F419L	.	413	1089	17	3	0	23	0.0104498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.00758786	0.0004	9.99e-05	8.702e-05	0.0001	0	0.0006	0	0.0001	0.0003493	54	154602	rs567880477	0.0006	0.0032	0.0006	0.0007	0.0016	0.0006	0.0006	0.0008	0.0006	0.0002	0.0004	0.0013	7.566e-05	0.0017	0.0016	0.0006	0.0013	8.164e-05	0.0049	0.0088	0.0051	0.0047	0.0075	0.0046	0.0045	0.0069	0.0067	0.0012	0.0056	0.0041	0.0081	0	0.0066	0.0180	0.0075	0.0064	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	173.43	69	chr19	49972089	.	T	C	173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.939;DP=643;ExcessHet=0;FS=11.382;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.08;MQRankSum=-5.603;QD=2.25;ReadPosRankSum=-3.312;SOR=1.499	GT:AD:DP:GQ:PL	0/1:64,13:77:99:185,0,1691	9	0	1	0
chr19	54456182	54456182	C	T	exonic	LENG8	.	nonsynonymous SNV	LENG8:NM_001375639:exon8:c.C1187T:p.S396F,LENG8:NM_001375638:exon9:c.C1241T:p.S414F,LENG8:NM_001375640:exon9:c.C1241T:p.S414F,LENG8:NM_001375641:exon9:c.C1241T:p.S414F,LENG8:NM_052925:exon9:c.C1241T:p.S414F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.16412894691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.66756	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.22	0.37052	T	-2.49	0.54217	N	0.449	0.54496	-0.7376	0.58576	T	0.200	0.55612	T	10	0.32863194	0.50129	T	0.164129	0.84331	D	0.131	0.35738	0.289	0.24921	0.102598925029	0.09809	0.7063576431843996	0.70577	1.03705223134	0.75649	0.647749304771	0.59666	T	.	.	.	-0.0449542	0.45210	T	-0.30235	0.44477	T	0.96903270483017	0.68449	D	0.942806	0.78426	D	0.53893065	0.69337	0.49298054	0.70673	0.53893065	0.69338	0.49298054	0.70673	-8.25	0.62761	D	.	.	0.715	0.73595	P	.;.;.;.	.;.;.;.	5.063688	0.84412	28.3	0.99851029367331168	0.93013	0.95890	0.66595	D	AEFDBCI	0.637347	0.61617	D	0.662083468808827	0.77153	6.620172	0.636299110933498	0.77595	6.709521	0.999999999999999	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.77	4.77	0.60425	4.948000	0.63290	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	15.670	0.77022	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4515.12	39	chr19	54456182	.	C	T	4515.12	.	AC=2;AF=0.1;AN=20;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.51;SOR=0.866	GT:AD:DP:GQ:PL	1/1:0,148:148:99:4538,442,0	9	1	0	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	5010.71	35	chr19	54739533	.	C	A	5010.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.5;DP=3120;ExcessHet=4.5998;FS=1.537;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=55.29;MQRankSum=0.189;QD=2;ReadPosRankSum=1.51;SOR=0.525	GT:AD:DP:GQ:PL	0/1:511,154:665:99:2672,0,15581	3	0	6	1
chr19	54752248	54752248	A	G	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon7:c.A853G:p.N285D	.	472	988	53	9	0	71	0.0346849	.	.	.	2344988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.000468388808781	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796591477	3.719e-06	8.145e-05	2.959e-06	4.488e-06	3.319e-05	1.09e-06	7.9e-07	4.37e-06	1.64e-06	3.319e-05	0	0	0	0	0	1.955e-06	0	2.636e-05	0	2.062e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.681	0.04417	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.885	0.01428	N	7.23	0.00430	T	1.41	0.00825	N	0.067	0.03956	-0.9794	0.35139	T	0.000	0.00152	T	9	0.046813875	0.03919	T	4.68E-4	0.00124	T	0.023	0.04649	0.254	0.19378	0.141422826196	0.13715	0.021484480057930886	0.02101	0.102646631919	0.11614	.	.	.	0.00138	0.00849	T	-0.424676	0.01598	T	-0.847794	0.00988	T	0.0696372147959041	0.08599	T	.	.	.	0.038748864	0.05221	0.03373727	0.02318	0.038748864	0.05221	0.03373727	0.02318	0.058	0.00329	T	.	.	0.059	0.00834	B	.	.	-0.515056	0.01820	0.143	0.70665495962579383	0.09370	0.00004	0.00092	N	AEFI	0.012143	0.00125	N	-1.67441242710064	0.00936	0.04055573	-1.68607278265976	0.01200	0.0540247	1.80848887901061E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.102000	0.10926	.	.	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2968:0.0:0.7032:0.0	3.427	0.06984	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05556	125.05	36	chr19	54752248	.	A	G	125.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3;DP=423;ExcessHet=0;FS=10.296;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=40.02;MQRankSum=-1.692;QD=7.82;ReadPosRankSum=-3.075;SOR=3.604	GT:AD:DP:GQ:PL	0/1:11,5:16:99:136,0,447	8	0	1	1
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	13352.9	36	chr19	54752378	.	A	T	13352.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.661;DP=2061;ExcessHet=0.0952;FS=1.132;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=54.42;MQRankSum=-18.14;QD=9.48;ReadPosRankSum=2.33;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,207:207:99:6230,621,0	5	2	3	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	15224.9	36	chr19	54752434	.	G	C	15224.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.173;DP=2440;ExcessHet=0.0952;FS=14.799;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.51;MQRankSum=-21.06;QD=8.6;ReadPosRankSum=0.272;SOR=1.201	GT:AD:DP:GQ:PL	1/1:0,214:214:99:6440,640,0	5	2	3	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	20676.9	36	chr19	54752445	.	C	T	20676.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.537;DP=2468;ExcessHet=0.0952;FS=18.645;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.72;MQRankSum=-21.3;QD=11.38;ReadPosRankSum=-0.49;SOR=1.517	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,214:214:99:1|1:54752445_C_T:9604,644,0:54752445	5	2	3	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	11914.1	36	chr19	54752485	.	T	C	11914.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.66;DP=971;ExcessHet=0;FS=49.012;InbreedingCoeff=0.7333;MLEAC=5;MLEAF=0.25;MQ=50.72;MQRankSum=-17.83;QD=19.86;ReadPosRankSum=-4.048;SOR=2.792	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,134:134:99:1|1:54752482_T_C:5935,403,0:54752482	7	2	1	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6625.53	36	chr19	54752511	.	G	A	6625.53	.	AC=4;AF=0.2;AN=20;DP=569;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=37.57;QD=24.49;SOR=5.339	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,79:79:99:1|1:54752511_G_A:3427,238,0:54752511	8	2	0	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	6634.15	40	chr19	54760643	.	A	G	6634.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.84;DP=2035;ExcessHet=2.8389;FS=3.768;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=52.78;MQRankSum=-8.43;QD=3.78;ReadPosRankSum=-0.638;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:373,110:483:99:0|1:54760643_A_G:3496,0,15197:54760643	5	0	5	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	7734.15	40	chr19	54760651	.	G	C	7734.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.862;DP=2076;ExcessHet=2.8389;FS=1.571;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.18;MQRankSum=-8.828;QD=4.28;ReadPosRankSum=0.57;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,125:505:99:0|1:54760643_A_G:4105,0,15567:54760643	5	0	5	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	5155.45	40	chr19	54760659	.	G	A	5155.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.195;DP=2068;ExcessHet=0.7463;FS=1.6;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=53.42;MQRankSum=-9.151;QD=4.06;ReadPosRankSum=1.15;SOR=0.533	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,137:520:99:0|1:54760643_A_G:4600,0,15670:54760643	7	0	3	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9106.15	40	chr19	54760665	.	T	C	9106.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.066;DP=2055;ExcessHet=2.8389;FS=1.509;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.84;MQRankSum=-9.565;QD=5.11;ReadPosRankSum=1.84;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:367,140:507:99:0|1:54760643_A_G:4774,0,14989:54760643	5	0	5	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9167.15	40	chr19	54760676	.	T	A	9167.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.168;DP=2031;ExcessHet=2.8389;FS=1.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.64;MQRankSum=-10.59;QD=5.2;ReadPosRankSum=3.64;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,140:501:99:0|1:54760643_A_G:4792,0,14737:54760643	5	0	5	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9455.15	40	chr19	54760692	.	A	G	9455.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.915;DP=1868;ExcessHet=2.8389;FS=2.358;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.24;MQRankSum=-11.98;QD=5.68;ReadPosRankSum=4.04;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:331,140:471:99:0|1:54760643_A_G:4882,0,13416:54760643	5	0	5	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9560.15	40	chr19	54760695	.	T	C	9560.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.898;DP=1846;ExcessHet=2.8389;FS=3.299;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.33;MQRankSum=-12.2;QD=5.86;ReadPosRankSum=3.72;SOR=0.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,140:458:99:0|1:54760643_A_G:4921,0,12844:54760643	5	0	5	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	614.52	39	chr19	54767322	.	C	T	614.52	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.44;DP=2009;ExcessHet=0.2348;FS=2.123;InbreedingCoeff=-0.1055;MLEAC=2;MLEAF=0.1;MQ=58.15;MQRankSum=-17.88;QD=0.75;ReadPosRankSum=-0.902;SOR=1.03	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:457,33:490:10:.:.:10,0,18861:.	8	0	2	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	699.14	39	chr19	54767339	.	G	A	699.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.396;DP=1980;ExcessHet=0.2348;FS=2.063;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.12;MQRankSum=-17.15;QD=0.88;ReadPosRankSum=1.59;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:440,35:475:99:0|1:54767339_G_A:110,0,18169:54767339	8	0	2	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	696.14	39	chr19	54767342	.	T	C	696.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.281;DP=1973;ExcessHet=0.2348;FS=2.075;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.1;MQRankSum=-16.91;QD=0.87;ReadPosRankSum=2.38;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:440,36:476:99:0|1:54767339_G_A:152,0,18233:54767339	8	0	2	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	689.1	39	chr19	54767348	.	TC	T	689.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.763;DP=1972;ExcessHet=0.2348;FS=0.992;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.06;MQRankSum=-17.02;QD=0.86;ReadPosRankSum=3.21;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:436,35:471:99:0|1:54767339_G_A:157,0,18202:54767339	8	0	2	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	775.1	39	chr19	54767351	.	AAAG	A	775.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.786;DP=1983;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.04;MQRankSum=-16.03;QD=0.97;ReadPosRankSum=3.42;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:439,37:476:99:0|1:54767339_G_A:172,0,18208:54767339	8	0	2	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	35164.4	39	chr19	54767353	.	A	*	35164.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.93;DP=2347;ExcessHet=0.0072;FS=0;InbreedingCoeff=0.5833;MLEAC=2;MLEAF=0.1;MQ=58.93;MQRankSum=-0.302;QD=17.01;ReadPosRankSum=-0.063;SOR=0.734	GT:AD:DP:GQ:PL	0/1:1,37:455:99:12192,11833,17820	8	0	2	0
chr19	54773566	54773566	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G304A:p.G102S,KIR2DL1:NM_014218:exon3:c.G304A:p.G102S,KIR2DS1:NM_014512:exon3:c.G304A:p.G102S,KIR2DS5:NM_014513:exon3:c.G304A:p.G102S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.000906809707648	.	.	6.784e-05	0	0	0	0.0005	7.741e-05	0	0	5.17e-05	8	154602	rs753437903	0.0002	0.0005	0.0001	0.0003	0.0018	0.0002	0.0002	0.0015	0.0015	0	6.814e-05	7.882e-05	2.536e-05	0.0003	0	8e-05	0.0001	0.0018	0.0001	0.0003	7.883e-05	0.0002	0.0017	7.248e-05	5.975e-05	0.0008	0.0006	0	0	0.0001	0	0	9.643e-05	0	7.549e-05	0.0005	0.0017	0.027	0.47320	D	0.089	0.40426	T	0.971	0.57185	D	0.918	0.65394	D	.	.	.	.	1	0.08975	N	.	.	.	5.68	0.00759	T	-5.14	0.83625	D	0.191	0.22228	-0.9410	0.42458	T	0.009	0.03140	T	9	0.103799045	0.19101	T	9.07E-4	0.00866	T	0.061	0.17616	0.634	0.77032	0.357724736475	0.35387	0.10501949248615178	0.10431	0.597683246291	0.54955	0.410481452942	0.26524	T	0.030452	0.21583	T	-0.29606	0.09037	T	-0.552987	0.17040	T	0.130864865621135	0.15461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.31882	B	.;.	.;.	0.990606	0.13686	10.22	0.98974812337137963	0.49600	0.00301	0.01603	N	AEFBI	0.039299	0.05688	N	-0.465999152572575	0.23200	1.244239	-0.718764225425959	0.16494	0.8727873	2.64208282316089E-5	0.03498	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	1.24	0.20416	-0.634000	0.05575	.	.	0.464000	0.21668	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.895	0.18180	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	0.000532	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3230.43	37	chr19	54773566	.	G	A	3230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.397;DP=3766;ExcessHet=0;FS=8.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.41;MQRankSum=-24.73;QD=2.73;ReadPosRankSum=-0.246;SOR=1.459	GT:AD:DP:GQ:PL	0/1:979,204:1183:99:3242,0,38287	9	0	1	0
chr19	54775258	54775258	A	T	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A464T:p.Y155F,KIR2DL1:NM_014218:exon4:c.A464T:p.Y155F,KIR2DS1:NM_014512:exon4:c.A464T:p.Y155F,KIR2DS5:NM_014513:exon4:c.A464T:p.Y155F	.	413	1094	15	0	0	15	0.0068089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000485302517296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403622068	0	8.233e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.14996	T	1.0	0.01155	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	2.1	0.19990	T	1.24	0.01037	N	0.071	0.06720	-0.9729	0.36583	T	0.017	0.06759	T	9	0.03911847	0.02379	T	4.85E-4	0.00133	T	0.012	0.01476	0.482	0.56302	0.112648838833	0.10856	0.020301396716153615	0.01983	0.920550017077	0.71431	0.410283654928	0.26495	T	0.001332	0.00808	T	-0.28797	0.09841	T	-0.651426	0.08854	T	0.0829859076827499	0.10364	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14706	B	.;.	.;.	-0.303199	0.02603	0.323	0.33138870032821505	0.01958	0.00038	0.00324	N	AEFBI	0.017241	0.00439	N	-1.85737701345998	0.00419	0.01803751	-1.91465860294619	0.00458	0.02026758	5.1668644097163E-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	-2.21	0.06581	-0.472000	0.06702	.	.	-0.596000	0.04633	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3016:0.0:0.296:0.4023	1.999	0.03252	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	.	.	.	.	.	.	.	.	0.05	117.43	41	chr19	54775258	.	A	T	117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=2546;ExcessHet=0;FS=20.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.64;MQRankSum=-20.91;QD=0.19;ReadPosRankSum=-0.592;SOR=3.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:571,44:615:99:0|1:54775248_C_A:129,0,23683:54775248	9	0	1	0
chr19	54775282	54775282	A	-	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift deletion	LOC112267881:NM_001368251:exon4:c.488delA:p.E163fs,KIR2DL1:NM_014218:exon4:c.488delA:p.E163fs,KIR2DS1:NM_014512:exon4:c.488delA:p.E165Rfs*83,KIR2DS5:NM_014513:exon4:c.488delA:p.E163fs	.	419	1064	39	0	0	39	0.0179972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	279.1	41	chr19	54775281	.	GA	G	279.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.06;DP=2697;ExcessHet=0.2348;FS=12.427;InbreedingCoeff=-0.111;MLEAC=2;MLEAF=0.1;MQ=58.58;MQRankSum=-13.8;QD=0.27;ReadPosRankSum=2.45;SOR=2.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:591,43:634:27:.:.:27,0,24248:.	8	0	2	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1393.14	41	chr19	54775425	.	A	G	1393.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.98;DP=2563;ExcessHet=0.2348;FS=6.62;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=55.24;MQRankSum=-9.538;QD=1.25;ReadPosRankSum=0.357;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:669,80:749:99:0|1:54775409_T_A:1345,0,27850:54775409	8	0	2	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N,KIR2DL1:NM_014218:exon4:c.G633C:p.K211N,KIR2DS1:NM_014512:exon4:c.G633C:p.K211N,KIR2DS5:NM_014513:exon4:c.G633C:p.K211N	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1416.92	41	chr19	54775427	.	G	C	1416.92	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.51;DP=2553;ExcessHet=0;FS=6.673;InbreedingCoeff=-0.0777;MLEAC=1;MLEAF=0.05;MQ=55.27;MQRankSum=-9.394;QD=1.9;ReadPosRankSum=0.549;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:665,82:747:99:0|1:54775409_T_A:1428,0,27629:54775409	9	0	1	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1538.71	41	chr19	54775428	.	T	C	1538.71	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.61;DP=2576;ExcessHet=0;FS=5.175;InbreedingCoeff=-0.0734;MLEAC=1;MLEAF=0.05;MQ=55.66;MQRankSum=-12.71;QD=2.05;ReadPosRankSum=0.537;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:666,86:752:99:0|1:54775409_T_A:1550,0,27630:54775409	9	0	1	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R,KIR2DL4:NM_001080772:exon3:c.A128G:p.Q43R	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	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	.	.	.	.	.	.	.	.	0.05	301.43	34	chr19	54804844	.	A	G	301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.433;DP=534;ExcessHet=0;FS=5.994;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.44;MQRankSum=-12.86;QD=1.44;ReadPosRankSum=-2.091;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,21:210:99:0|1:54804844_A_G:313,0,7812:54804844	9	0	1	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L,KIR2DL4:NM_001080772:exon3:c.G149T:p.R50L	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	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	.	.	.	.	.	.	.	.	0.05	331.43	34	chr19	54804865	.	G	T	331.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.22;DP=553;ExcessHet=0;FS=7.462;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.39;MQRankSum=-13.61;QD=1.44;ReadPosRankSum=1.39;SOR=1.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,23:230:99:0|1:54804844_A_G:343,0,8623:54804844	9	0	1	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R,KIR2DL4:NM_001080772:exon3:c.A155G:p.H52R	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	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	.	.	.	.	.	.	.	.	0.05	319.43	34	chr19	54804871	.	A	G	319.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.773;DP=557;ExcessHet=0;FS=9.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.42;MQRankSum=-13.73;QD=1.37;ReadPosRankSum=2.36;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,23:234:99:0|1:54804844_A_G:331,0,8791:54804844	9	0	1	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S,KIR2DL4:NM_001080772:exon3:c.A158C:p.Y53S	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	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	.	.	.	.	.	.	.	.	0.05	23808.9	34	chr19	54804874	.	A	C	23808.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=1234;ExcessHet=0.0072;FS=0;InbreedingCoeff=0.5833;MLEAC=1;MLEAF=0.05;MQ=59.38;MQRankSum=0;QD=23.03;ReadPosRankSum=2.5;SOR=0.697	GT:AD:DP:GQ:PL	0/1:0,23:228:99:6823,6359,8791	9	0	1	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L,KIR2DL4:NM_001080772:exon3:c.G164T:p.R55L	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	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	.	.	.	.	.	.	.	.	0.05	379.43	34	chr19	54804880	.	G	T	379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.22;DP=1054;ExcessHet=0;FS=10.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.27;MQRankSum=-13.63;QD=1.66;ReadPosRankSum=3.21;SOR=1.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,24:229:99:0|1:54804844_A_G:391,0,8536:54804844	9	0	1	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T,KIR2DL4:NM_001080772:exon3:c.A173C:p.N58T	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	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	.	.	.	.	.	.	.	.	0.05	496.43	34	chr19	54804889	.	A	C	496.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=1060;ExcessHet=0;FS=14.34;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.02;MQRankSum=-13.96;QD=2.11;ReadPosRankSum=2.78;SOR=2.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,27:235:99:0|1:54804844_A_G:508,0,8653:54804844	9	0	1	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R,KIR2DL4:NM_001080772:exon3:c.C182G:p.T61R	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	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	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	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	.	.	.	.	.	.	.	.	0.05	579.43	34	chr19	54804898	.	C	G	579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.66;DP=1077;ExcessHet=0;FS=17.503;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.95;MQRankSum=-14.59;QD=2.3;ReadPosRankSum=3.05;SOR=2.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,30:252:99:0|1:54804844_A_G:591,0,9231:54804844	9	0	1	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E,KIR2DL4:NM_001080772:exon3:c.A193G:p.K65E	.	408	993	118	3	0	124	0.0587678	.	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	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	1	0	.	.	.	.	.	.	.	.	0.05	798.43	34	chr19	54804909	.	A	G	798.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.43;DP=1129;ExcessHet=0;FS=15.05;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.39;MQRankSum=-12.63;QD=2.97;ReadPosRankSum=1.46;SOR=2.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,36:269:99:0|1:54804844_A_G:810,0,9675:54804844	9	0	1	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1798.14	34	chr19	54804943	.	G	A	1798.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.49;DP=1166;ExcessHet=0.2348;FS=13.715;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.97;MQRankSum=-13.26;QD=3.51;ReadPosRankSum=-1.927;SOR=1.989	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,59:295:99:0|1:54804844_A_G:1767,0,9732:54804844	8	0	2	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	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	.	.	.	.	.	.	.	.	0.15	2374.45	34	chr19	54804956	.	C	G	2374.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.15;DP=1422;ExcessHet=0.7463;FS=12.453;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.29;MQRankSum=-16.12;QD=2.96;ReadPosRankSum=-2.862;SOR=1.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,67:307:99:0|1:54804844_A_G:2091,0,9876:54804844	7	0	3	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	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	.	.	.	.	.	.	.	.	0.15	2530.45	34	chr19	54804960	.	T	A	2530.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.519;DP=1424;ExcessHet=0.7463;FS=17.072;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.32;MQRankSum=-15.73;QD=3.12;ReadPosRankSum=-2.895;SOR=1.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,69:308:99:0|1:54804844_A_G:2178,0,9828:54804844	7	0	3	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	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	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	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	.	.	.	.	.	.	.	.	0.15	2780.45	34	chr19	54804968	.	T	G	2780.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.13;DP=1435;ExcessHet=0.7463;FS=16.177;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.31;MQRankSum=-15.32;QD=3.4;ReadPosRankSum=-1.498;SOR=1.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,75:317:99:0|1:54804844_A_G:2401,0,9936:54804844	7	0	3	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	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	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	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	.	.	.	.	.	.	.	.	0.15	2699.45	34	chr19	54804969	.	A	G	2699.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.383;DP=1440;ExcessHet=0.7463;FS=19.076;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.38;MQRankSum=-15.34;QD=3.32;ReadPosRankSum=-1.654;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,75:318:99:0|1:54804844_A_G:2398,0,9958:54804844	7	0	3	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6712.57	34	chr19	54805015	.	T	C	6712.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.265;DP=1562;ExcessHet=1.5895;FS=8.159;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.67;MQRankSum=-11.78;QD=5.8;ReadPosRankSum=1.44;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,133:386:99:0|1:54805010_A_G:4823,0,10159:54805010	6	0	4	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6847.57	34	chr19	54805016	.	T	A	6847.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.245;DP=1562;ExcessHet=1.5895;FS=8.174;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.67;MQRankSum=-11.71;QD=5.92;ReadPosRankSum=1.08;SOR=1.162	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,134:386:99:0|1:54805010_A_G:4868,0,10136:54805010	6	0	4	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	7942.57	34	chr19	54805024	.	A	G	7942.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.474;DP=1576;ExcessHet=1.5895;FS=9.137;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.61;MQRankSum=-11.4;QD=6.79;ReadPosRankSum=1.21;SOR=1.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,148:399:99:0|1:54805010_A_G:5427,0,10068:54805010	6	0	4	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	8952.15	34	chr19	54805033	.	C	T	8952.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.399;DP=1643;ExcessHet=2.8389;FS=9.437;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.68;MQRankSum=-11.65;QD=6.18;ReadPosRankSum=0.528;SOR=1.101	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,157:397:99:0|1:54805010_A_G:5738,0,9514:54805010	5	0	5	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	7881.15	34	chr19	54805068	.	A	G	7881.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.173;DP=1562;ExcessHet=2.8389;FS=6.858;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.36;MQRankSum=-9.918;QD=5.83;ReadPosRankSum=0.563;SOR=0.761	GT:AD:DP:GQ:PL	0/1:201,185:386:99:4110,0,6138	5	0	5	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	9915.15	99	chr19	54805957	.	A	T	9915.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.97;DP=1771;ExcessHet=2.8389;FS=3.192;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-16.36;QD=6.82;ReadPosRankSum=0.635;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,132:387:99:0|1:54805940_TCTC_T:4775,0,10310:54805940	5	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	10422.2	99	chr19	54805960	.	A	G	10422.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.89;DP=1798;ExcessHet=2.8389;FS=2.226;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.88;MQRankSum=-16.33;QD=7.05;ReadPosRankSum=0.668;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,137:397:99:0|1:54805940_TCTC_T:4970,0,10505:54805940	5	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14776.2	99	chr19	54805974	.	A	T	14776.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.69;DP=2009;ExcessHet=2.8389;FS=0.612;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-15.55;QD=8.75;ReadPosRankSum=0.322;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:274,182:456:99:0|1:54805940_TCTC_T:6817,0,10957:54805940	5	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.25	17370.2	99	chr19	54805981	.	G	A	17370.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.4;DP=2150;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.11;MQRankSum=-15.01;QD=9.52;ReadPosRankSum=-0.322;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,208:500:99:0|1:54805940_TCTC_T:7782,0,11486:54805940	5	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	22716.2	99	chr19	54806034	.	C	A	22716.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.229;DP=2912;ExcessHet=2.8389;FS=3.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.45;MQRankSum=-17.44;QD=9.52;ReadPosRankSum=4.68;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,263:623:99:0|1:54806034_C_A:9960,0,14287:54806034	5	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	22899.2	99	chr19	54806035	.	A	G	22899.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.07;DP=2921;ExcessHet=2.8389;FS=4.623;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.42;MQRankSum=-17.54;QD=9.54;ReadPosRankSum=5.03;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:362,266:628:99:0|1:54806034_C_A:10080,0,14362:54806034	5	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	22299.2	99	chr19	54806051	.	C	G	22299.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.563;DP=2945;ExcessHet=2.8389;FS=4.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=-18.03;QD=9.15;ReadPosRankSum=5.19;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:362,266:628:99:0|1:54806034_C_A:10080,0,14400:54806034	5	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20457.1	38	chr19	54806072	.	GGA	G	20457.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.688;DP=2835;ExcessHet=2.8389;FS=5.882;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.84;MQRankSum=-17.65;QD=8.45;ReadPosRankSum=2.6;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:363,247:610:99:0|1:54806034_C_A:9279,0,14499:54806034	5	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20353.1	38	chr19	54806075	.	A	AGG	20353.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.636;DP=2810;ExcessHet=2.8389;FS=5.92;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.83;MQRankSum=-17.42;QD=8.49;ReadPosRankSum=2.06;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:355,245:600:99:0|1:54806034_C_A:9219,0,14169:54806034	5	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	19703.2	38	chr19	54806086	.	T	C	19703.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.793;DP=2800;ExcessHet=2.8389;FS=7.273;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.94;MQRankSum=-17.24;QD=8.27;ReadPosRankSum=-0.791;SOR=1.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,242:596:99:0|1:54806034_C_A:9096,0,14136:54806034	5	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	17023.2	38	chr19	54806109	.	A	G	17023.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.044;DP=2734;ExcessHet=2.8389;FS=10.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.35;MQRankSum=-16.97;QD=7.33;ReadPosRankSum=-4.427;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,211:562:99:0|1:54806034_C_A:7803,0,14103:54806034	5	0	5	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	9901.57	38	chr19	54806112	.	A	G	9901.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.987;DP=2693;ExcessHet=1.5895;FS=8.425;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=57.15;MQRankSum=-15.74;QD=5.16;ReadPosRankSum=-2.953;SOR=1.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,204:551:99:0|1:54806034_C_A:7521,0,13956:54806034	6	0	4	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2447.14	38	chr19	54806161	.	A	G	2447.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.72;DP=1561;ExcessHet=0.2348;FS=31.76;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.26;MQRankSum=-18.58;QD=3.39;ReadPosRankSum=3.91;SOR=3.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,61:373:99:0|1:54806034_C_A:1622,0,12917:54806034	8	0	2	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2025.14	38	chr19	54806170	.	G	C	2025.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.49;DP=1537;ExcessHet=0.2348;FS=20.559;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.48;MQRankSum=-18.32;QD=2.91;ReadPosRankSum=2.48;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:303,56:359:99:0|1:54806034_C_A:1439,0,12554:54806034	8	0	2	0
chr19	54806178	54806178	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G589A:p.G197S,KIR2DL4:NM_001080772:exon4:c.G589A:p.G197S	.	416	1100	5	1	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.00399361	0.0068	0.05	0	0	.	0	0	0	0.0003234	50	154602	rs562937136	0.0007	0.0007	0.0007	0.0006	0.0229	0.0007	0.0006	0.0216	0.0210	0.0229	0.0010	0	0	0	0.0023	5.847e-05	0.0014	0.0004	0.0061	0.0061	0.0064	0.0058	0.0214	0.0057	0.0056	0.0203	0.0198	0.0214	0	0.0013	0	0	0	0.0068	0.0001	0.0043	0.0009	0.028	0.46129	D	0.063	0.45110	T	0.981	0.60036	D	0.611	0.51118	P	0.093193	0.20236	U	0.246155	1	0.08975	N	1.84	0.48285	L	2.58	0.13434	T	-5.08	0.84457	D	0.261	0.29544	-1.0726	0.08851	T	0.044	0.18742	T	10	0.0045753717	0.00095	T	.	.	.	0.059	0.16972	.	.	0.328504224676	0.32467	0.06988589293301634	0.06926	2.68827321764	0.98538	.	.	.	.	.	.	-0.580043	0.00192	T	-0.582971	0.14280	T	0.0881467788318275	0.10995	T	.	.	.	.	.	.	.	.	.	.	.	-6.097	0.50340	T	.	.	0.213	0.55665	B	.;.;.;.;.;.	.;.;.;.;.;.	1.579481	0.20215	14.64	0.98519973530265537	0.42447	0.00237	0.01320	N	AEFDBI	0.040798	0.06117	N	-0.646128351039815	0.17573	0.9054126	-0.934422807103989	0.11285	0.573984	1.21157652715662E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.474	0.11504	-0.555000	0.06089	.	.	0.348000	0.19902	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3456:0.0:0.6544:0.0	3.151	0.06099	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1376.43	38	chr19	54806178	.	G	A	1376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=8.57;DP=1529;ExcessHet=0;FS=23.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.04;MQRankSum=-18.89;QD=3.81;ReadPosRankSum=0.699;SOR=1.984	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,55:361:99:0|1:54806034_C_A:1388,0,12683:54806034	9	0	1	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2346.14	38	chr19	54806184	.	T	C	2346.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.35;DP=1535;ExcessHet=0.2348;FS=16.985;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.32;MQRankSum=-18.45;QD=3.38;ReadPosRankSum=-1.215;SOR=2.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,58:352:99:0|1:54806034_C_A:1550,0,12170:54806034	8	0	2	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2384.14	38	chr19	54806191	.	G	A	2384.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.486;DP=1537;ExcessHet=0.2348;FS=14.988;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.32;MQRankSum=-18.53;QD=3.42;ReadPosRankSum=-2.326;SOR=2.119	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,56:348:99:0|1:54806034_C_A:1472,0,12092:54806034	8	0	2	0
chr19	54806230	54806230	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C641T:p.P214L,KIR2DL4:NM_001080772:exon4:c.C641T:p.P214L	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000816710685669	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs373028201	1.371e-06	1.505e-05	1.364e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.30943	T	0.751	0.15406	T	0.0	0.02946	B	0.002	0.08700	B	0.008959	0.01224	N	6.106810	1	0.08975	N	-0.34	0.03507	N	2.72	0.11947	T	-2.22	0.56144	N	0.07	0.08227	-0.9609	0.39012	T	0.015	0.05801	T	10	0.024040222	0.00648	T	8.17E-4	0.00670	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.021072794982650286	0.02060	1.56403758506	0.88076	.	.	.	.	.	.	-0.392352	0.02598	T	-0.801363	0.01868	T	0.0486300559627527	0.05257	T	.	.	.	.	.	.	.	.	.	.	.	-1.357	0.29719	T	.	.	0.072	0.12181	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.620061	0.01518	0.097	0.48884289032456646	0.04116	0.00062	0.00453	N	AEFBI	0.019551	0.00689	N	-2.36564159368528	0.00032	0.001392303	-2.42714203885532	0.00034	0.001497015	0.00765305925471646	0.11515	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.01	0.07003	-0.780000	0.04759	.	.	-3.486000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2225:0.3846:0.0:0.3929	3.217	0.06304	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	595.14	38	chr19	54806230	.	C	T	595.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.47;DP=977;ExcessHet=0.2348;FS=13.849;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.73;MQRankSum=-16.8;QD=0.98;ReadPosRankSum=-2.77;SOR=1.912	GT:AD:DP:GQ:PL	0/1:255,38:293:99:357,0,7090	8	0	2	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13059.2	37	chr19	54808838	.	C	T	13059.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.81;DP=2070;ExcessHet=2.8389;FS=3.037;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.16;MQRankSum=-17.43;QD=7.13;ReadPosRankSum=0.745;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:270,174:444:99:0|1:54808838_C_T:6453,0,10793:54808838	5	0	5	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15064.1	37	chr19	54808850	.	TGG	T	15064.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.12;DP=2228;ExcessHet=2.8389;FS=2.1;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.39;MQRankSum=-16.24;QD=7.59;ReadPosRankSum=-0.095;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,185:474:99:0|1:54808838_C_T:6898,0,11578:54808838	5	0	5	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15589.1	37	chr19	54808853	.	C	CAT	15589.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.82;DP=2244;ExcessHet=2.8389;FS=1.315;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.46;MQRankSum=-16.1;QD=7.83;ReadPosRankSum=-0.41;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,193:480:99:0|1:54808838_C_T:7240,0,11470:54808838	5	0	5	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.25	17966.2	37	chr19	54808875	.	T	C	17966.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.58;DP=2329;ExcessHet=2.8389;FS=1.259;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.6;MQRankSum=-15.46;QD=8.7;ReadPosRankSum=-2.176;SOR=0.677	GT:AD:DP:GQ:PL	0/1:299,211:510:99:7960,0,7535	5	0	5	0
chr19	54830110	54830110	A	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.A1170T:p.E390D,KIR3DL1:NM_013289:exon9:c.A1170T:p.E390D	.	487	1018	4	13	0	30	0.0145208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00295037248364	.	0.000998403	7.89e-05	0.0002	0.0002	0	0	7.895e-05	0	0	0.0001921	5	26028	rs577254016	1.882e-05	0.0015	1.15e-05	2.624e-05	0.0001	1.309e-05	1.112e-05	4.711e-05	3.035e-05	3.065e-05	0.0001	0	2.641e-05	0	0	1.796e-05	0	0	8.649e-05	0.0010	6.973e-05	0.0001	0.0001	4.903e-05	3.833e-05	5.029e-05	3.246e-05	0.0001	0	0.0001	0	0	0.0001	0.0037	3.177e-05	0.0005	0	0.016	0.51853	D	0.452	0.18560	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.485	0.37223	L	7.16	0.00448	T	-1.23	0.31981	N	0.044	0.02861	-0.9655	0.38112	T	0.002	0.00497	T	8	0.018143237	0.00392	T	0.00295	0.06280	T	0.025	0.05312	0.321	0.30064	0.233785782151	0.22967	0.08289795060291379	0.08224	0.208071757028	0.23278	.	.	.	0.005634	0.05080	T	-0.276028	0.11093	T	-0.634272	0.10092	T	0.0382154940498127	0.03370	T	.	.	.	0.20277482	0.42333	0.12719326	0.30622	0.20277482	0.42333	0.12719326	0.30622	-6.204	0.49228	T	.	.	0.108	0.27583	B	.;.;.	.;.;.	0.477189	0.08466	5.226	0.92327634821417748	0.21724	0.01652	0.05304	N	AEFBI	0.030493	0.03080	N	-0.939294173757901	0.09934	0.472429	-1.08733637988935	0.07949	0.388757	2.17517074619218E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	0.719	0.17362	0.965000	0.28916	.	.	0.280000	0.18617	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	.	.	.	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	.	.	.	.	.	.	.	.	0.2	867.51	36	chr19	54830110	.	A	T	867.51	.	AC=4;AF=0.2;AN=20;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=0.9992;MLEAC=4;MLEAF=0.2;MQ=34.98;QD=34.46;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11:11:33:1|1:54830110_A_T:495,33,0:54830110	8	2	0	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	.	.	.	.	.	.	.	.	0.2	4962.53	371	chr19	54830166	.	G	C	4962.53	.	AC=4;AF=0.2;AN=20;DP=1855;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.76;QD=30.62;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,66:66:99:1|1:54830110_A_T:2970,199,0:54830110	8	2	0	0
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	.	.	.	.	.	.	.	.	0.2	5187.53	371	chr19	54830177	.	C	T	5187.53	.	AC=4;AF=0.2;AN=20;DP=1860;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.25;QD=27.62;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:54830110_A_T:3060,205,0:54830110	8	2	0	0
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	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	.	.	.	.	.	.	.	.	0.2	5187.53	371	chr19	54830178	.	G	C	5187.53	.	AC=4;AF=0.2;AN=20;DP=1860;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.25;QD=22.61;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:54830110_A_T:3060,205,0:54830110	8	2	0	0
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.2	5187.53	371	chr19	54830217	.	T	C	5187.53	.	AC=4;AF=0.2;AN=20;DP=1860;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.25;QD=24.46;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:54830110_A_T:3060,205,0:54830110	8	2	0	0
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.2	5051.53	371	chr19	54830219	.	T	A	5051.53	.	AC=4;AF=0.2;AN=20;DP=1857;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.22;QD=31.23;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,65:65:99:1|1:54830219_T_A:2924,196,0:54830219	8	2	0	0
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.2	4961.53	371	chr19	54830226	.	C	T	4961.53	.	AC=4;AF=0.2;AN=20;DP=1855;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.38;QD=31.42;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,65:65:99:1|1:54830219_T_A:2924,196,0:54830219	8	2	0	0
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4427.49	371	chr19	54830252	.	TC	T	4427.49	.	AC=4;AF=0.2;AN=20;DP=1844;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=44.19;QD=32.44;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,57:57:99:1|1:54830248_C_A:2525,172,0:54830248	8	2	0	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4377.49	371	chr19	54830255	.	AAAG	A	4377.49	.	AC=4;AF=0.2;AN=20;DP=1842;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=44.17;QD=28.75;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,55:55:99:1|1:54830248_C_A:2475,166,0:54830248	8	2	0	0
chr19	54837615	54837615	A	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon3:c.A110G:p.H37R,KIR2DS4:NM_001281972:exon3:c.A110G:p.H37R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1143507	1.168e-05	0.0006	1.304e-05	1.029e-05	2.666e-05	6.91e-06	5.59e-06	5.62e-06	4.11e-06	0	0	0	2.666e-05	4.072e-05	0	1.047e-05	1.774e-05	1.349e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	178.36	35	chr19	54837615	.	A	G	178.36	.	AC=2;AF=0.1;AN=20;DP=596;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=1;MLEAF=0.05;MQ=36.01;QD=29.73;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,3:3:9:98,9,0	9	1	0	0
chr19	54837707	54837707	A	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon3:c.A202G:p.N68D,KIR2DS4:NM_001281972:exon3:c.A202G:p.N68D	.	466	1018	7	24	7	62	0.0263032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.633e-05	0	0.0002	0	0	0	0	6.952e-05	0.0001229	19	154602	rs1130481	0.0010	0.0082	0.0007	0.0013	0.0051	0.0009	0.0009	0.0047	0.0045	0.0004	0.0020	0.0015	0.0013	0.0012	0.0004	0.0006	0.0008	0.0051	3.049e-05	0.0001	4.406e-05	1.584e-05	0.0003	1.012e-05	5.8e-06	0.0001	6.639e-05	0	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012419	0.000000	0.011050	0.004274	0.000000	0.043860	0.015823	0.011905	0.1	319.49	35	chr19	54837707	.	A	G	319.49	.	AC=2;AF=0.1;AN=20;DP=597;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=1;MLEAF=0.05;MQ=36.53;QD=33.21;SOR=4.407	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:54837699_A_C:135,9,0:54837699	9	1	0	0
chr19	54842911	54842911	C	T	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;LOC102725023	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon5:c.C686T:p.P229L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388095435	1.374e-05	0.0002	1.006e-05	1.747e-05	0.0001	8.79e-06	7.08e-06	6.123e-05	4.495e-05	0	2.384e-05	0	0	0	0	6.618e-06	3.508e-05	0.0001	2.13e-05	0.0003	1.376e-05	2.935e-05	0.0003	5.66e-06	2.57e-06	.	.	0	0	0	0	0.0002	0	0	1.573e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	58.43	255	chr19	54842911	.	C	T	58.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.967;DP=974;ExcessHet=0;FS=0;InbreedingCoeff=-0.0133;MLEAC=1;MLEAF=0.05;MQ=33.71;MQRankSum=0.967;QD=19.48;ReadPosRankSum=-0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:17:70,0,17	9	0	1	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13924.2	34	chr19	54855625	.	A	T	13924.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.782;DP=1986;ExcessHet=2.8389;FS=8.748;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.55;MQRankSum=-15.08;QD=7.77;ReadPosRankSum=1.52;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,168:468:99:0|1:54855608_TCTC_T:6151,0,12091:54855608	5	0	5	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13459.2	34	chr19	54855628	.	A	G	13459.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.78;DP=1991;ExcessHet=2.8389;FS=8.887;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.62;MQRankSum=-15.1;QD=7.49;ReadPosRankSum=1.58;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,164:464:99:0|1:54855608_TCTC_T:5983,0,12103:54855608	5	0	5	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5465.14	34	chr19	54855666	.	CAG	C	5465.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.371;DP=1815;ExcessHet=0.2348;FS=18.008;InbreedingCoeff=-0.113;MLEAC=2;MLEAF=0.1;MQ=57.45;MQRankSum=-17.68;QD=6.46;ReadPosRankSum=-1.523;SOR=1.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,89:410:99:0|1:54855666_CAG_C:2720,0,13163:54855666	8	0	2	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5477.14	34	chr19	54855669	.	G	GCA	5477.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.22;DP=1780;ExcessHet=0.2348;FS=18.008;InbreedingCoeff=-0.113;MLEAC=2;MLEAF=0.1;MQ=57.54;MQRankSum=-17.68;QD=6.5;ReadPosRankSum=-1.742;SOR=1.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,89:410:99:0|1:54855666_CAG_C:2720,0,13163:54855666	8	0	2	0
chr19	54855702	54855702	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.T739A:p.W247R,KIR3DL2:NM_006737:exon5:c.T739A:p.W247R	.	418	1096	7	0	1	8	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000513965063079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.844e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.23	0.25827	T	0.0	0.02946	B	0.002	0.06944	B	0.007305	0.01163	N	6.284920	1	0.08975	N	-0.905	0.01334	N	4.12	0.02891	T	2.77	0.00192	N	0.074	0.05287	-0.9554	0.40024	T	0.004	0.01159	T	10	0.0278669	0.00925	T	5.14E-4	0.00163	T	0.006	0.00375	0.383	0.40134	0.148003135375	0.14442	0.03313264070354783	0.03261	2.56269628182	0.97972	0.291219711304	0.09100	T	0.013561	0.11709	T	-0.45857	0.01003	T	-0.896481	0.00528	T	0.0652051243997332	0.07961	T	.	.	.	0.038792573	0.05237	0.03620834	0.03021	0.038792573	0.05237	0.03620834	0.03021	-1.24	0.01520	T	.	.	0.056	0.00444	B	.;.	.;.	-1.017771	0.00746	0.023	0.28703814929394555	0.01487	0.00064	0.00463	N	AEFBI	0.018163	0.00530	N	-2.08547964821295	0.00138	0.005896707	-2.12188863542438	0.00167	0.007337207	3.705165035272E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-1.99	0.07047	-2.672000	0.00915	.	.	-3.099000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4704:0.3018:0.2278	4.218	0.09998	982	0.03397	Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1511.14	34	chr19	54855702	.	T	A	1511.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=7;DP=1322;ExcessHet=0.2348;FS=48.567;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.76;MQRankSum=-18.72;QD=1.99;ReadPosRankSum=-4.941;SOR=5.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:340,43:385:99:.:.:766,0,14284:.	8	0	2	0
chr19	54855712	54855712	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A749T:p.Y250F,KIR3DL2:NM_006737:exon5:c.A749T:p.Y250F	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00162832317537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.011	0.15521	B	0.582363	0.11131	N	0.677554	1	0.08975	N	-0.85	0.01485	N	4.1	0.02944	T	1.46	0.00775	N	0.114	0.12198	-0.9161	0.46076	T	0.003	0.01026	T	10	0.027252734	0.00875	T	0.001628	0.02651	T	0.012	0.01476	0.509	0.60540	0.101711395817	0.09552	0.01728898292730494	0.01683	1.5806642636	0.88385	0.423110246658	0.28265	T	0.012224	0.10783	T	-0.376184	0.03293	T	-0.778139	0.02510	T	0.0609680625727	0.07321	T	.	.	.	0.084882095	0.19667	0.028344387	0.01062	0.084882095	0.19666	0.028344387	0.01062	-0.036	0.00374	T	.	.	0.096	0.15296	B	.;.	.;.	-0.434923	0.02086	0.194	0.28175452013278124	0.01434	0.00020	0.00220	N	AEFBI	0.013809	0.00197	N	-1.90629648151444	0.00333	0.01431343	-1.91087114090788	0.00466	0.02062847	1.66258050066668E-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	-0.121	0.12875	-0.128000	0.10508	.	.	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3866:0.0:0.0:0.6134	3.114	0.05984	982	0.03397	Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	455.14	34	chr19	54855712	.	A	T	455.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=8.15;DP=1313;ExcessHet=0.2348;FS=43.825;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.42;MQRankSum=-19.01;QD=0.6;ReadPosRankSum=-4.024;SOR=5.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:358,34:392:99:0|1:54855695_T_C:350,0,14930:54855695	8	0	2	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3569.14	42	chr19	54859084	.	C	T	3569.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.235;DP=1085;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=43.89;MQRankSum=-7.057;QD=4.55;ReadPosRankSum=-1.051;SOR=0.673	GT:AD:DP:GQ:PL	0/1:338,70:408:99:1925,0,8432	8	0	2	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3545.1	42	chr19	54859096	.	TGG	T	3545.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.709;DP=1098;ExcessHet=0.2348;FS=0.72;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.67;MQRankSum=-5.643;QD=4.49;ReadPosRankSum=1.42;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,70:405:99:0|1:54859096_TGG_T:1931,0,13815:54859096	8	0	2	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3545.1	42	chr19	54859099	.	C	CAT	3545.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.597;DP=1096;ExcessHet=0.2348;FS=0.72;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.52;MQRankSum=-5.643;QD=4.49;ReadPosRankSum=1.8;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,70:405:99:0|1:54859096_TGG_T:1931,0,13815:54859096	8	0	2	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3103.14	42	chr19	54859126	.	T	A	3103.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.578;DP=1051;ExcessHet=0.2348;FS=0.733;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=41.87;MQRankSum=-3.739;QD=4.17;ReadPosRankSum=5.77;SOR=0.608	GT:AD:DP:GQ:PL	0/1:308,62:370:99:1680,0,8169	8	0	2	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15828.2	34	chr19	54865810	.	T	C	15828.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.521;DP=1456;ExcessHet=2.8389;FS=1.162;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-9.966;QD=12.94;ReadPosRankSum=1.02;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,178:355:99:0|1:54865794_T_C:6941,0,6896:54865794	5	0	5	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15804.2	34	chr19	54865825	.	G	A	15804.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.712;DP=1509;ExcessHet=2.8389;FS=0.548;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.56;MQRankSum=-10.27;QD=12.39;ReadPosRankSum=1.42;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,179:366:99:0|1:54865794_T_C:6953,0,7313:54865794	5	0	5	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15765.2	34	chr19	54865847	.	T	C	15765.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.92;DP=1527;ExcessHet=2.8389;FS=1.17;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-10.24;QD=12.22;ReadPosRankSum=-0.054;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:192,175:367:99:.:.:6773,0,4635:.	5	0	5	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15501.2	34	chr19	54865852	.	T	A	15501.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.003;DP=1520;ExcessHet=2.8389;FS=1.853;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.54;MQRankSum=-10.09;QD=12.04;ReadPosRankSum=-0.456;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,174:372:99:0|1:54865794_T_C:6710,0,7790:54865794	5	0	5	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14715.2	34	chr19	54865864	.	C	A	14715.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.33;DP=1488;ExcessHet=2.8389;FS=1.176;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.7;MQRankSum=-9.413;QD=11.76;ReadPosRankSum=-0.902;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,162:353:99:0|1:54865794_T_C:6227,0,7532:54865794	5	0	5	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14632.2	34	chr19	54865870	.	C	T	14632.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.51;DP=1465;ExcessHet=2.8389;FS=0.553;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.69;MQRankSum=-9.557;QD=11.88;ReadPosRankSum=-1.277;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,156:337:99:0|1:54865794_T_C:6006,0,7131:54865794	5	0	5	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13373.2	34	chr19	54865885	.	T	C	13373.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.07;DP=1392;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.61;MQRankSum=-9.308;QD=11.56;ReadPosRankSum=-1.506;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,147:315:99:0|1:54865794_T_C:5667,0,6612:54865794	5	0	5	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13039.2	34	chr19	54865888	.	C	T	13039.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.85;DP=1373;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.58;MQRankSum=-9.099;QD=11.43;ReadPosRankSum=-1.48;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,145:315:99:0|1:54865794_T_C:5516,0,6657:54865794	5	0	5	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	12453.2	34	chr19	54865893	.	G	C	12453.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.03;DP=1329;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.55;MQRankSum=-8.765;QD=11.42;ReadPosRankSum=-1.821;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,140:308:99:0|1:54865794_T_C:5301,0,6539:54865794	5	0	5	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	12846.6	33	chr19	54866420	.	C	G	12846.6	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.779;DP=1543;ExcessHet=1.5895;FS=6.87;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=56.21;MQRankSum=-16.34;QD=10.73;ReadPosRankSum=2;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,167:362:99:0|1:54866416_T_C:6381,0,7685:54866416	6	0	4	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3037.14	33	chr19	54866533	.	A	T	3037.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.496;DP=1938;ExcessHet=0.2348;FS=49.868;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.52;MQRankSum=-21.85;QD=3.08;ReadPosRankSum=0.433;SOR=2.928	GT:AD:DP:GQ:PL	0/1:395,107:502:99:1649,0,10936	8	0	2	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2585.36	73	chr19	55358524	.	C	*	2585.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=1.02;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=-1.373;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,100:100:99:.:.:4473,305,0:.	1	8	1	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2730.36	73	chr19	55358535	.	T	*	2730.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=0.818;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.165;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,100:100:99:.:.:4473,305,0:.	1	8	1	0
chr19	55761991	55761991	A	G	exonic	RFPL4A	.	nonsynonymous SNV	RFPL4A:NM_001145014:exon2:c.A191G:p.K64R	.	452	1061	8	1	0	10	0.00469043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	.	0.00219649	0.0043	0	0.0024	0	0.0201	0.0048	0.0103	0.0031	0.0011061	171	154602	rs202102526	0.0050	0.0049	0.0050	0.0050	0.0052	0.0049	0.0048	0.0051	0.0051	0.0006	0.0031	0.0012	8.399e-05	0.0138	0.0042	0.0052	0.0040	0.0026	0.0046	0.0047	0.0042	0.0050	0.0060	0.0043	0.0042	0.0050	0.0046	0.0011	0	0.0060	0.0020	0.0002	0.0158	0	0.0052	0.0035	0.0028	0.177	0.22224	T	0.424	0.13953	T	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	1.9	0.23486	T	-0.31	0.12099	N	0.065	0.03726	-1.0358	0.18606	T	0.026	0.11220	T	9	0.0036705732	0.00067	T	.	.	.	0.002	0.00045	.	.	0.0297737177859	0.01360	0.052387686679110354	0.05180	0.642582153666	0.57820	0.470957577229	0.34812	T	0.007892	0.07266	T	-0.70033	0.00036	T	-0.777936	0.02516	T	0.00230836032271605	0.00024	T	0.345165	0.07572	T	0.0277982	0.02022	0.03040241	0.01490	0.0277982	0.02022	0.03040241	0.01490	-4.089	0.25128	T	.	.	0.081	0.08417	B	.	.	0.157165	0.05482	1.950	0.67676882740748467	0.08426	0.00236	0.01316	N	AEFGI	0.020793	0.00858	N	-1.86359620726495	0.00407	0.0175176	-1.99654613396975	0.00311	0.01374765	0.777143047110315	0.23771	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.31	-6.62	0.01646	-2.308000	0.01212	-20.000000	0.00162	-0.971000	0.01942	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1583:0.4539:0.1847:0.2031	2.282	0.03865	834	0.38640	RDM domain, Ret finger protein-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1598.12	40	chr19	55761991	.	A	G	1598.12	.	AC=2;AF=0.1;AN=20;DP=327;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=38.17;QD=33.59;SOR=1.005	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1621,126,0	9	1	0	0
chr19	55789307	55789307	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon9:c.G2309A:p.S770N,NLRP11:NM_001385451:exon9:c.G2444A:p.S815N,NLRP11:NM_145007:exon10:c.G2606A:p.S869N	.	425	1094	3	0	0	3	0.00136924	.	.	.	2370935	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.004	0.00643214121854	7.7e-05	.	2.472e-05	0	8.639e-05	0	0	2.999e-05	0	0	1.94e-05	3	154602	rs148312368	2.805e-05	2.805e-05	3.267e-05	2.338e-05	0.0002	2.087e-05	1.878e-05	2.116e-05	1.862e-05	0	0	0	0	0	0.0002	2.968e-05	6.623e-05	3.478e-05	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0002	8.14e-06	5.14e-06	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.074	0.42976	T	0.067	0.26290	B	0.076	0.28435	B	.	.	.	.	1	0.19925	N	0.345	0.11182	N	1.11	0.38883	T	.	.	.	0.15	0.15328	-1.0104	0.26791	T	0.049	0.20868	T	9	0.14866751	0.28149	T	0.006432	0.16927	T	.	.	.	.	0.239901079897	0.23603	0.10230109028309474	0.10160	.	.	0.318358033895	0.13173	T	0.004339	0.03748	T	-0.43344	0.01413	T	-0.729932	0.04330	T	0.0354650147283263	0.02887	T	0.506949	0.16072	T	0.034988057	0.04032	0.057601508	0.10501	0.034988057	0.04031	0.057601508	0.10500	-3.235	0.12914	T	.	.	0.302	0.58023	B	.;.;.	.;.;.	-0.562674	0.01677	0.120	0.12947213888588519	0.00240	0.00529	0.02453	N	AEFBI	0.039079	0.05625	N	-1.32085684422296	0.03437	0.1535312	-1.37159011779358	0.03558	0.1661998	1.1790205231912E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.92	-0.426	0.11700	-1.130000	0.03353	-3.745000	0.02565	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.586:0.0:0.414	5.271	0.14937	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	5620.12	39	chr19	55789307	.	C	T	5620.12	.	AC=2;AF=0.1;AN=20;DP=535;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.88;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,182:182:99:5643,546,0	9	1	0	0
chr19	56027647	56027647	G	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.G1414A:p.A472T	.	429	1075	17	1	0	19	0.0087598	.	.	.	716699	NLRP5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0036	0.00658946	0.0053	0.0058	0.0030	0	0	0.0029	0.0033	0.0213	0.0049353	763	154602	rs138053847	0.0043	0.0043	0.0038	0.0048	0.0216	0.0042	0.0042	0.0207	0.0204	0.0063	0.0022	0.0004	2.519e-05	0.0003	0.0033	0.0034	0.0045	0.0216	0.0040	0.0040	0.0038	0.0042	0.0191	0.0037	0.0036	0.0159	0.0147	0.0060	0.0165	0.0024	0.0003	0.0002	0	0	0.0030	0.0038	0.0191	0.596	0.05703	T	0.218	0.26066	T	0.734	0.42776	P	0.156	0.34472	B	0.170130	0.03104	N	1.955820	1	0.08975	N	0.55	0.14455	N	-0.69	0.72678	T	-0.31	0.12099	N	0.116	0.11340	-0.9232	0.45112	T	0.116	0.40986	T	10	0.0054012835	0.00119	T	.	.	.	0.108	0.30607	.	.	0.335661160332	0.33175	0.12466704048598752	0.12392	0.0220801985691	0.02212	0.188550025225	0.00200	T	0.062841	0.32021	T	-0.531602	0.00376	T	-0.520791	0.20215	T	0.0106503735744448	0.00149	T	0.570043	0.20293	T	0.023743112	0.01140	0.037205417	0.03324	0.023743112	0.01140	0.037205417	0.03324	-5.311	0.40052	T	.	.	0.097	0.15654	B	.;.	.;.	-0.870174	0.00977	0.039	0.87840626277462941	0.17521	0.00258	0.01414	N	AEFDBI	0.017920	0.00505	N	-1.35429293064307	0.03081	0.1370572	-1.56594203968662	0.01868	0.08516214	0.00234955334658641	0.09341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.82	-5.63	0.02276	-3.609000	0.00465	-6.271000	0.01446	-0.246000	0.07238	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6778:0.0:0.1761:0.1461	6.094	0.19232	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.018939	0.1	5290.12	139	chr19	56027647	.	G	A	5290.12	.	AC=2;AF=0.1;AN=20;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.06;SOR=0.881	GT:AD:DP:GQ:PL	1/1:0,160:160:99:5313,480,0	9	1	0	0
chr20	2796623	2796623	G	T	exonic	CPXM1	.	nonsynonymous SNV	CPXM1:NM_001184699:exon8:c.C949A:p.P317T,CPXM1:NM_019609:exon8:c.C949A:p.P317T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454	0.0156708581116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.008	0.67890	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.375	0.91388	M	3.38	0.05778	T	-5.97	0.89272	D	0.64	0.65245	-0.9653	0.38151	T	0.094	0.35604	T	10	0.87225926	0.86498	D	0.015671	0.36531	T	0.454	0.75347	0.8	0.91946	0.639027027806	0.63605	0.8243501799998144	0.82393	1.07623771461	0.76979	0.61884188652	0.55565	T	0.247088	0.61667	T	0.197391	0.73648	D	0.0457626	0.73304	D	0.992619454860687	0.83140	D	0.937406	0.76468	D	0.79925287	0.83858	0.6683214	0.80545	0.79925287	0.83859	0.6683214	0.80546	-6.936	0.53566	T	.	.	0.232	0.46447	B	.	.	4.849270	0.79243	27.1	0.99769878929784084	0.85834	0.99285	0.93953	D	AEFDBI	0.941523	0.94490	D	0.963490328934644	0.94505	12.811	0.905740515374052	0.95817	14.00003	0.997843130398488	0.36100	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.579976	0.35079	0	.	.	5.43	5.43	0.79006	6.812000	0.75016	11.922000	0.99834	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	16.769	0.85392	740	0.53092	Peptidase M14, carboxypeptidase A|AEBP1/CPX, 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	.	.	.	.	.	.	.	.	0.05	1378.43	36	chr20	2796623	.	G	T	1378.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.023;DP=428;ExcessHet=0;FS=2.651;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.162;SOR=0.976	GT:AD:DP:GQ:PL	0/1:46,54:100:99:1390,0,1133	9	0	1	0
chr20	6041172	6041172	G	C	exonic	LRRN4	.	nonsynonymous SNV	LRRN4:NM_152611:exon5:c.C2073G:p.S691R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0476249960658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.913e-07	6.841e-07	1.373e-06	0	9.056e-07	0	0	.	.	0	0	0	0	0	0	9.056e-07	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.032	0.44694	D	0.035	0.52389	D	0.973	0.57599	D	0.554	0.49340	P	0.599905	0.10968	N	0.824844	0.990244	0.24196	N	1.79	0.46772	L	0.29	0.58897	T	-2.37	0.52289	N	0.492	0.52563	-0.8451	0.52304	T	0.171	0.51165	T	10	0.29089683	0.46669	T	0.047625	0.63006	D	0.188	0.46444	0.409	0.44395	0.404870348458	0.40103	0.4657862091517723	0.46497	0.749429864137	0.63691	0.431870043278	0.29464	T	0.089327	0.38349	T	-0.16599	0.25843	T	-0.476209	0.24851	T	0.776780784130096	0.44850	D	0.689231	0.29860	T	0.30458525	0.53313	0.33507508	0.59326	0.30458525	0.53313	0.33507508	0.59325	-12.92	0.89031	D	.	.	0.936	0.85584	P	.	.	1.261996	0.16596	12.64	0.99198863146736094	0.55201	0.25120	0.22602	N	AEFDBHCI	0.129013	0.24702	N	-0.447500123576726	0.23825	1.282179	-0.626746130160562	0.18806	1.006302	0.9824000632931	0.30394	0.405899	0.06291	1	0.379588	0.06130	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.54	-1.72	0.07671	-0.596000	0.05816	-0.299000	0.10130	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.094000	0.17991	0.5863:0.0:0.4137:0.0	11.938	0.52171	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	.	.	.	.	.	.	.	.	0.05	740.43	33	chr20	6041172	.	G	C	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.997;DP=374;ExcessHet=0;FS=0.972;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.386;SOR=0.855	GT:AD:DP:GQ:PL	0/1:33,27:60:99:752,0,870	9	0	1	0
chr20	10049705	10049705	C	T	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon6:c.C1136T:p.A379V,ANKEF1:NM_001303472:exon7:c.C569T:p.A190V,ANKEF1:NM_022096:exon7:c.C1136T:p.A379V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0507228094859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	1.0	0.01155	T	0.954	0.54400	P	0.437	0.45591	B	0.000426	0.44522	D	0.248859	0.976597	0.39290	D	1.79	0.46772	L	-0.15	0.65192	T	-0.22	0.10480	N	0.581	0.60241	-0.8033	0.54950	T	0.214	0.57560	T	10	0.6874958	0.71651	D	0.050723	0.64362	D	0.233	0.53499	0.619	0.75347	0.7457264781	0.74343	0.5138078995225664	0.51302	0.716833638651	0.62019	0.534552574158	0.43675	T	0.008667	0.07944	T	0.0446227	0.57649	T	-0.173679	0.57107	T	0.755097210407257	0.43572	D	0.757524	0.38090	T	0.07955835	0.18183	0.08178266	0.18613	0.07955835	0.18183	0.08178266	0.18613	-2.095	0.03562	T	.	.	0.28	0.51419	B	.;.	.;.	2.403080	0.30876	18.57	0.86540061954191816	0.16604	0.82540	0.41753	D	AEFDIJ	0.161342	0.28738	N	0.245821332840929	0.53431	3.512139	0.260173255748146	0.53229	3.492999	0.0330069554246567	0.14084	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	3.887000	0.55910	5.937000	0.51416	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.135000	0.19760	0.0:0.862:0.138:0.0	15.463	0.75106	949	0.11373	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	317.55	81	chr20	10049705	.	C	T	317.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.332;DP=805;ExcessHet=1.5895;FS=229.965;InbreedingCoeff=-0.2493;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.222;SOR=9.688	GT:AD:DP:GQ:PL	0/1:77,28:107:99:140,0,1804	6	0	4	0
chr20	31544998	31544998	G	T	exonic	HM13	.	nonsynonymous SNV	HM13:NM_030789:exon4:c.G417T:p.Q139H,HM13:NM_178580:exon4:c.G417T:p.Q139H,HM13:NM_178581:exon4:c.G417T:p.Q139H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.00605534548123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.07307	T	0.485	0.27591	T	0.014	0.16867	B	0.018	0.18489	B	0.000028	0.55875	D	0.165528	0.999995	0.58761	D	0.22	0.09567	N	2.26	0.17596	T	2.62	0.00206	N	0.637	0.64989	-0.9947	0.31379	T	0.018	0.07565	T	10	0.27679768	0.45244	T	0.006055	0.15816	T	0.211	0.50185	0.615	0.74884	0.718883813532	0.71641	0.6881043297977671	0.68750	0.591526734513	0.54588	0.719070196152	0.69911	T	0.067	0.33011	T	0.0114537	0.53223	T	-0.221324	0.52610	T	0.622413396835327	0.37305	D	0.952205	0.82980	D	0.066964515	0.14457	0.09873329	0.23549	0.066964515	0.14456	0.09873329	0.23549	-3.895	0.22542	T	.	.	0.418	0.66168	A	.;.;.;.;.	.;.;.;.;.	3.462168	0.48258	22.6	0.83261949730233187	0.14629	0.98353	0.81919	D	AEFDBI	0.872569	0.79448	D	-0.180370502505688	0.33954	1.932238	0.0617513614844255	0.42644	2.582907	0.999999999986413	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	4.07	0.46726	5.978000	0.70187	8.488000	0.77320	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0858:0.0:0.9142:0.0	11.291	0.48487	711	0.56613	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1295.43	33	chr20	31544998	.	G	T	1295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.44;DP=424;ExcessHet=0;FS=0.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.619;SOR=0.644	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1307,0,1520	9	0	1	0
chr20	32022793	32022793	G	A	exonic	CCM2L	.	nonsynonymous SNV	CCM2L:NM_001365692:exon6:c.G1067A:p.R356H,CCM2L:NM_080625:exon6:c.G1067A:p.R356H	.	.	.	.	.	.	.	.	0.0144	0.232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0275390476818	7.7e-05	.	0.0001	0.0003	0	0	0	7.712e-05	0	0.0003	8.41e-05	13	154602	rs376576656	4.519e-05	4.583e-05	4.224e-05	4.817e-05	0.0006	3.545e-05	3.325e-05	0.0003	0.0002	8.969e-05	0	0	2.52e-05	0	0.0006	2.248e-05	3.318e-05	0.0004	3.945e-05	3.941e-05	5.141e-05	2.692e-05	0.0002	1.716e-05	1.13e-05	1.921e-05	1.032e-05	7.245e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.191	0.29823	T	0.138	0.63918	T	0.015	0.17086	B	0.01	0.14941	B	0.003241	0.35212	N	0.299915	0.83185	0.34930	D	2.045	0.56016	M	-0.25	0.67011	T	-0.66	0.41428	N	0.294	0.33250	-0.7784	0.56392	T	0.199	0.55414	T	10	0.12418729	0.23585	T	0.027539	0.50338	D	0.071	0.20720	.	.	0.495372917472	0.49173	0.4995093793551757	0.49871	0.906940308468	0.70879	0.361169546843	0.19556	T	0.017244	0.14102	T	-0.250747	0.14007	T	-0.305808	0.44109	T	0.0991432631356986	0.12262	T	0.713629	0.43132	T	.	.	.	.	.	.	.	.	-4.43	0.29961	T	.	.	0.102	0.18164	B	.;.	.;.	5.217510	0.87565	29.3	0.99915806984636879	0.98379	0.98395	0.82339	D	AEFBI	0.890228	0.82506	D	-0.148436610473869	0.35302	2.02592	-0.0112503291326603	0.39205	2.321086	0.999998340786059	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.41	3.47	0.38831	7.145000	0.76950	9.933000	0.82595	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.1451:0.0:0.8549:0.0	10.770	0.45518	506	0.75555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	712.43	38	chr20	32022793	.	G	A	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.879;DP=391;ExcessHet=0;FS=2.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.106;SOR=0.436	GT:AD:DP:GQ:PL	0/1:34,28:62:99:724,0,928	9	0	1	0
chr20	33092482	33092482	G	A	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon9:c.G1168A:p.G390R	.	411	1104	6	1	0	8	0.00361011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0004	0.00539137	0.0042	0.0002	8.714e-05	0.0240	0.0268	0.0016	0.0102	0.0005	0.0036481	564	154602	rs139946022	0.0024	0.0024	0.0025	0.0023	0.0361	0.0023	0.0023	0.0346	0.0339	5.975e-05	0.0002	0.0012	0.0361	0.0273	0.0012	0.0004	0.0020	0.0005	0.0036	0.0036	0.0024	0.0048	0.0276	0.0033	0.0032	0.0239	0.0225	4.81e-05	0	0.0004	0.0023	0.0276	0.0312	0	0.0007	0.0014	0.0010	0.128	0.26965	T	0.01	0.65728	D	0.747	0.43174	P	0.34	0.42389	B	0.259402	0.15345	N	0.629950	1	0.08975	N	1.245	0.31408	L	5.53	0.00894	T	-1.54	0.37375	N	0.22	0.24634	-0.7539	0.57731	T	0.002	0.00556	T	10	0.006673366	0.00151	T	.	.	.	0.143	0.38195	0.468	0.54052	0.12205267543	0.11705	0.37374091776177837	0.37288	0.0805407383043	0.09068	0.342932283878	0.16877	T	0.00415	0.03562	T	-0.562206	0.00246	T	-0.563426	0.16056	T	0.024583987873152	0.01219	T	0.786121	0.42437	T	0.08183286	0.18824	0.10609642	0.25516	0.08183286	0.18823	0.10609642	0.25516	-1.845	0.02647	T	.	.	0.137	0.29968	B	.	.	3.152347	0.42675	21.6	0.95581147410327949	0.27287	0.76222	0.37367	D	AEFDBI	0.310480	0.41649	N	-0.0235729096167818	0.40788	2.428441	-0.0320966369933884	0.38274	2.252613	0.21123195285544	0.18242	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	4.255000	0.58595	8.497000	0.77347	-0.205000	0.08568	0.988000	0.36536	1.000000	0.68203	0.181000	0.21328	0.0:0.0:1.0:0.0	14.779	0.69375	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	0.002520	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	754.43	36	chr20	33092482	.	G	A	754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.965;SOR=0.77	GT:AD:DP:GQ:PL	0/1:32,25:57:99:766,0,907	9	0	1	0
chr20	35631561	35631561	A	C	exonic	CPNE1	.	stopgain	CPNE1:NM_001198863:exon8:c.T645G:p.Y215X,CPNE1:NM_003915:exon8:c.T660G:p.Y220X,CPNE1:NM_152925:exon8:c.T645G:p.Y215X,CPNE1:NM_152926:exon8:c.T645G:p.Y215X,CPNE1:NM_152927:exon9:c.T645G:p.Y215X,CPNE1:NM_152928:exon9:c.T645G:p.Y215X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0019	0	0	0	6.065e-05	0.0001294	20	154602	rs200788892	6.567e-05	6.567e-05	7.351e-05	5.776e-05	0.0019	5.495e-05	5.107e-05	0.0016	0.0014	0	0	0	0.0019	0	0	9.892e-06	0.0001	2.319e-05	6.568e-05	6.562e-05	3.856e-05	9.403e-05	0.0017	3.515e-05	2.615e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.306613	0.14506	U	0.655241	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.211	0.23506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274299	0.80821	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.;.;.;.;.	.;High;.;.;.;.;.;.;.;.	7.739637	0.96815	36	0.99372369576823516	0.61498	0.96254	0.68247	D	AEFDBI	0.340290	0.43716	N	0.465468652399849	0.65087	4.778449	0.321348900804571	0.56798	3.84355	0.946543961419194	0.27711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	4.34	0.51267	0.586000	0.23596	3.050000	0.36117	-0.054000	0.16847	0.996000	0.39380	1.000000	0.68203	0.883000	0.42306	0.9269:0.0:0.0731:0.0	11.045	0.47070	378	0.83833	C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2332.43	33	chr20	35631561	.	A	C	2332.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.73;DP=810;ExcessHet=0;FS=1.153;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.743;SOR=0.79	GT:AD:DP:GQ:PL	0/1:98,83:181:99:2344,0,2485	9	0	1	0
chr20	38771731	38771731	C	T	exonic	ACTR5	.	nonsynonymous SNV	ACTR5:NM_024855:exon9:c.C1739T:p.P580L	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	.	7.7e-05	0.00199681	0.0014	0	0	0.0157	0.0014	0.0001	0	0.0009	0.0011902	184	154602	rs3752289	0.0006	0.0006	0.0005	0.0006	0.0148	0.0005	0.0005	0.0138	0.0134	8.961e-05	4.472e-05	0	0.0148	0.0009	0	5.396e-05	0.0006	0.0010	0.0006	0.0006	0.0004	0.0008	0.0118	0.0005	0.0005	0.0094	0.0086	0	0	0	0	0.0118	0.0008	0	0.0002	0.0005	0.0019	0.004	0.65419	D	0.012	0.63918	D	0.968	0.56581	D	0.146	0.33945	B	0.000023	0.55875	D	0.157530	1	0.81001	D	1.04	0.26193	L	-3.9	0.96015	D	-3.08	0.63323	D	0.341	0.38232	0.494	0.90464	D	0.654	0.87954	D	10	0.007787645	0.00177	T	.	.	.	0.541	0.80842	.	.	0.934926559485	0.93426	0.33475801111339004	0.33388	0.153210047844	0.17289	0.546360373497	0.45343	T	0.111958	0.42786	T	-0.0204343	0.48792	T	0.210195	0.83675	D	0.114955383540869	0.13929	T	0.907609	0.67324	D	0.1081381	0.25570	0.11855706	0.28619	0.1081381	0.25570	0.11855706	0.28618	-8.394	0.63725	D	.	.	0.174	0.38080	B	.	.	4.381918	0.67552	25.1	0.99767552247958691	0.85583	0.98952	0.89087	D	AEFDGBI	0.339297	0.43649	N	0.390557994975293	0.60910	4.285342	0.499078847247196	0.67927	5.150364	0.999999999961335	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.95	5.95	0.96415	3.924000	0.56191	7.633000	0.62825	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	20.393	0.98950	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1027.43	34	chr20	38771731	.	C	T	1027.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=413;ExcessHet=0;FS=0.762;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-1.568;SOR=0.859	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1039,0,1296	9	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)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	290.81	57	chr20	41100210	.	T	C	290.81	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.473;DP=484;ExcessHet=2.8389;FS=197.43;InbreedingCoeff=-0.3399;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=0.027;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,19:75:72:.:.:72,0,1021:.	5	0	5	0
chr20	45877873	45877873	C	T	exonic	ZSWIM3	.	nonsynonymous SNV	ZSWIM3:NM_080752:exon2:c.C1315T:p.P439S	.	429	1089	3	1	0	5	0.00229043	.	.	.	2765228	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00422138099413	.	.	1.653e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs762486983	7.525e-06	7.524e-06	2.722e-06	1.238e-05	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	0	6.708e-05	0	0	0	0.0003	1.799e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.08534	T	0.373	0.16328	T	0.192	0.29441	B	0.033	0.22329	B	0.000070	0.52346	D	0.081345	0.707373	0.33483	D	2.52	0.73523	M	1.86	0.24285	T	-0.25	0.11008	N	0.284	0.32148	-1.0296	0.20583	T	0.033	0.14203	T	10	0.063771576	0.08357	T	0.004221	0.10184	T	0.031	0.07369	0.255	0.19533	0.0482279557977	0.04254	0.17440652969573478	0.17359	0.862503557744	0.69024	0.326456189156	0.14399	T	0.014026	0.12018	T	-0.27161	0.11579	T	-0.54506	0.17802	T	0.309534043073654	0.25395	T	0.785321	0.42297	T	0.060536794	0.12433	0.08511137	0.19628	0.060536794	0.12433	0.08511137	0.19627	-3.916	0.22542	T	.	.	0.084	0.09481	B	.	.	1.352400	0.17601	13.26	0.96784595747449842	0.31087	0.69665	0.34278	D	AEFBI	0.117145	0.22962	N	-0.447055375520322	0.23840	1.283094	-0.288558736646675	0.28474	1.587935	0.999029841211689	0.38237	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.41	3.49	0.39065	1.505000	0.35344	1.048000	0.23614	0.599000	0.40250	0.348000	0.25742	0.394000	0.24678	0.993000	0.69303	0.0:0.8446:0.0:0.1554	10.063	0.41461	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1399.43	38	chr20	45877873	.	C	T	1399.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.51;DP=546;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=1.55;SOR=0.626	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1411,0,1714	9	0	1	0
chr20	59036733	59036733	C	T	exonic	PRELID3B	.	nonsynonymous SNV	PRELID3B:NM_001256403:exon3:c.G229A:p.D77N,PRELID3B:NM_016045:exon4:c.G319A:p.D107N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0168561392456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.329	0.20100	T	0.011	0.15914	B	0.033	0.22329	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.26	0.17596	T	-1.78	0.47852	N	0.837	0.84298	-1.1224	0.02185	T	0.056	0.23602	T	10	0.7449423	0.75221	D	0.016856	0.38312	T	0.091	0.26358	0.503	0.59615	0.325263233342	0.32141	0.6304605146847013	0.62980	0.255388776605	0.28132	0.725858211517	0.70902	T	0.011621	0.10339	T	-0.176279	0.24291	T	-0.490989	0.23289	T	0.929527699947357	0.59364	D	0.712729	0.32446	T	0.345469	0.56712	0.26686448	0.52537	0.345469	0.56712	0.26686448	0.52536	-5.659	0.43327	T	.	.	0.243	0.60378	B	.;.	.;.	3.847476	0.55711	23.6	0.99763980340407643	0.85335	0.99299	0.94153	D	AEFDBI	0.902245	0.84991	D	0.21844601827706	0.52093	3.385787	0.370249439430965	0.59735	4.154082	0.999999999999997	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.568000	0.81546	7.538000	0.60033	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.339	0.90240	969	0.06854	PRELI/MSF1 domain|PRELI/MSF1 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1310.43	34	chr20	59036733	.	C	T	1310.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=383;ExcessHet=0;FS=1.984;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=0.24;SOR=1.028	GT:AD:DP:GQ:PL	0/1:30,47:77:99:1322,0,718	9	0	1	0
chr20	59972081	59972081	T	A	exonic	CDH26	.	stopgain	CDH26:NM_177980:exon4:c.T351A:p.Y117X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342140577	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002232	0.36970	N	0.275955	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.182	0.19728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161363	0.70327	D	0.0908645	0.76303	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.060082	0.60248	24.2	0.99352263892405357	0.60656	0.28212	0.23492	N	AEFGBHCIJ	0.105276	0.21040	N	-0.25791848502514	0.30789	1.720046	-0.592011937939524	0.19700	1.058158	0.999965751200877	0.48965	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.13	-3.05	0.05069	-1.118000	0.03391	-4.324000	0.02216	-0.128000	0.13240	0.185000	0.24126	0.000000	0.08366	0.910000	0.44547	0.0:0.4165:0.0:0.5835	11.295	0.48511	994	0.00715	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1205.43	34	chr20	59972081	.	T	A	1205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=417;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.587;SOR=0.573	GT:AD:DP:GQ:PL	0/1:55,46:101:99:1217,0,1487	9	0	1	0
chr20	62656662	62656662	C	T	exonic	SLCO4A1	.	nonsynonymous SNV	SLCO4A1:NM_016354:exon2:c.C208T:p.R70W	.	420	1101	0	1	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00629717700815	0.0002	.	0.0003	0	0.0001	0.0002	0	0.0004	0.0020	0.0002	0.0001682	26	154602	rs200054451	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0001	0	6.848e-05	0.0023	0.0002	3.921e-05	0.0007	0.0001	0.0004	0.0001	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	8.384e-05	2.405e-05	0	6.53e-05	0.0023	0.0006	0.0002	0	0.0002	0.0005	0	0.005	0.63226	D	0.008	0.67890	D	0.997	0.70673	D	0.517	0.48105	P	0.000075	0.00414	N	5.063620	1	0.08975	N	1.04	0.26193	L	0.98	0.42122	T	-3.08	0.63323	D	0.208	0.23125	-1.0010	0.29631	T	0.084	0.32872	T	10	0.023281127	0.00605	T	0.006297	0.16551	T	0.108	0.30607	.	.	0.602001837285	0.59882	0.40409585818787014	0.40325	0.489713154436	0.47727	0.325927197933	0.14319	T	0.247659	0.61734	T	-0.420696	0.01693	T	-0.547243	0.17591	T	0.107744451147869	0.13188	T	0.586841	0.21439	T	0.1302439	0.30397	0.077911854	0.17400	0.1302439	0.30396	0.077911854	0.17400	-5.291	0.39854	T	.	.	0.086	0.11606	B	.;.	.;.	2.833789	0.37365	20.5	0.99738990419462048	0.83337	0.24792	0.22502	N	AEFDBHCI	0.210051	0.33598	N	-0.564148536517401	0.20042	1.053626	-0.758141266452896	0.15522	0.8167826	0.99994174739735	0.47345	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.71	-1.49	0.08259	0.511000	0.22445	0.606000	0.19981	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2706:0.4997:0.1332:0.0965	3.895	0.08640	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1061.43	33	chr20	62656662	.	C	T	1061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.376;SOR=0.752	GT:AD:DP:GQ:PL	0/1:51,40:91:99:1073,0,1293	9	0	1	0
chr20	63562847	63562847	G	C	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.C4268G:p.A1423G,HELZ2:NM_001037335:exon9:c.C5975G:p.A1992G	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0293552788486	0.0019	0.00159744	0.0006	0.0074	0.0006	0	0	0	0	0	0.0004398	68	154602	rs115004564	0.0002	0.0002	0.0002	0.0002	0.0072	0.0002	0.0002	0.0065	0.0062	0.0072	0.0004	0	0	0	0	9.001e-07	0.0006	7.016e-05	0.0017	0.0017	0.0016	0.0018	0.0058	0.0015	0.0015	0.0052	0.0049	0.0058	0	0.0011	0	0	0	0	0	0.0014	0.0002	0.129	0.32769	T	0.049	0.48336	D	0.317	0.32920	B	0.164	0.34953	B	0.050398	0.02011	N	1.899990	1	0.08975	N	2.35	0.67516	M	-1.37	0.80214	T	-1.66	0.41618	N	0.136	0.14196	-0.7444	0.58226	T	0.242	0.61012	T	10	0.007584214	0.00172	T	0.029355	0.51881	D	0.158	0.41098	.	.	0.357519025918	0.35359	0.19286983758689832	0.19204	0.318141264854	0.34044	0.23764424026	0.02582	T	0.034732	0.23438	T	-0.477713	0.00763	T	-0.456089	0.27026	T	0.0128791660437945	0.00221	T	0.327267	0.06786	T	0.09478144	0.22293	0.09677484	0.23008	0.09478144	0.22293	0.09677484	0.23008	-3.582	0.17596	T	.	.	0.087	0.18164	B	.;.	.;.	0.809840	0.11805	8.378	0.91476536918013174	0.20749	0.03021	0.07899	N	AEFDGBHCI	0.064063	0.12417	N	-0.847242135267126	0.12117	0.5887524	-0.945831558238645	0.11019	0.5588422	0.0849718982745498	0.15969	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.48	-0.721	0.10625	-0.706000	0.05149	1.056000	0.23679	0.614000	0.49286	0.000000	0.06391	0.697000	0.26210	0.015000	0.10482	0.0:0.3137:0.3699:0.3164	9.282	0.36894	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.005102	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	1338.43	63	chr20	63562847	.	G	C	1338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=537;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=1.61;SOR=0.706	GT:AD:DP:GQ:PL	0/1:89,55:144:99:1350,0,2259	9	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.65	47295.9	284	chr21	13610565	.	G	A	47295.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=2.78;DP=2483;ExcessHet=1.4371;FS=1.2;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=54;MQRankSum=-7.814;QD=19.88;ReadPosRankSum=-0.068;SOR=0.588	GT:AD:DP:GQ:PL	1/1:0,275:275:99:8818,825,0	1	4	5	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.65	32418.9	248	chr21	13610631	.	A	G	32418.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.799;DP=1979;ExcessHet=1.4371;FS=3.455;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=48.5;MQRankSum=-13.96;QD=17.34;ReadPosRankSum=0.791;SOR=0.955	GT:AD:DP:GQ:PL	1/1:0,218:218:99:6621,653,0	1	4	5	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.7	25747.0	188	chr21	13641414	.	A	G	25747.0	.	AC=14;AF=0.7;AN=20;BaseQRankSum=0.334;DP=1444;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=58.19;MQRankSum=-1.829;QD=18.7;ReadPosRankSum=-0.493;SOR=0.683	GT:AD:DP:GQ:PL	1/1:0,155:155:99:4244,464,0	1	5	4	0
chr21	29109172	29109172	T	C	exonic	MAP3K7CL	.	nonsynonymous SNV	MAP3K7CL:NM_001286622:exon6:c.T41C:p.V14A	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00194930159095	.	0.000199681	0.0020	0	0	0	.	0	0	0.0028	0.0001423	22	154602	rs538220559	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	2.802e-05	0	2.799e-05	0	0.0004	7.416e-06	0.0002	0.0033	0.0001	0.0001	3.855e-05	0.0002	0.0039	8.661e-05	7.253e-05	0.0026	0.0021	0	0	0	0	0	0	0	1.47e-05	0	0.0039	0.471	0.08458	T	0.939	0.02701	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.19	0.09965	N	0.054	0.02559	-1.0110	0.26604	T	0.034	0.14639	T	5	0.004681319	0.00098	T	0.001949	0.03482	T	0.002	0.00045	0.139	0.04277	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.640687	0.00083	T	-0.696444	0.06023	T	0.012846215165365	0.00219	T	0.262774	0.04248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08320	B	.	.	-0.020509	0.04144	0.990	0.90858427092068716	0.20107	0.00509	0.02386	N	AEFBI	0.040911	0.06150	N	-0.843000800571133	0.12223	0.5944701	-1.05645863391295	0.08572	0.4221408	0.795041696218687	0.24084	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.95	-0.836	0.10225	-0.679000	0.05304	0.813000	0.21772	0.571000	0.28931	0.000000	0.06391	0.005000	0.19230	0.027000	0.12703	0.0:0.1876:0.2927:0.5197	2.474	0.04293	971	0.05719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	786.43	37	chr21	29109172	.	T	C	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.185;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-1.068;SOR=0.711	GT:AD:DP:GQ:PL	0/1:49,36:85:99:798,0,1228	9	0	1	0
chr21	32314646	32314646	C	T	exonic	MRAP	.	nonsynonymous SNV	MRAP:NM_206898:exon5:c.C302T:p.A101V	Glucocorticoid deficiency 2, Autosomal recessive	1	1459	60	2	0	64	0.0214621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0008	0.00259585	0.0045	0.0003	0.0053	0	0.0003	0.0026	0.0077	0.0179	0.0040103	620	154602	rs140113354	0.0029	0.0029	0.0023	0.0034	0.0182	0.0028	0.0028	0.0166	0.0164	0.0002	0.0029	0.0047	2.519e-05	0.0004	0.0182	0.0019	0.0034	0.0174	0.0018	0.0018	0.0017	0.0019	0.0135	0.0016	0.0015	0.0109	0.0099	0.0002	0	0.0014	0.0066	0.0004	0	0.0034	0.0022	0.0009	0.0135	0.0	0.91255	D	0.606	0.07791	T	0.259	0.31472	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	.	.	.	-2.28	0.87512	D	-0.85	0.23156	N	0.107	0.09207	-0.5881	0.65296	T	0.406	0.75579	T	8	0.0033186674	0.00057	T	.	.	.	0.074	0.21613	.	.	0.68305478711	0.68035	.	.	.	.	.	.	.	.	.	.	-0.414334	0.01861	T	-0.353658	0.38785	T	0.0168495364615181	0.00438	T	0.246275	0.03611	T	.	.	.	.	.	.	.	.	-4.201	0.26766	T	.	.	0.103	0.18622	B	.	.	0.334611	0.07086	3.655	0.47159206942495985	0.03834	0.02825	0.07564	N	AEFDBI	0.029273	0.02734	N	-0.966890229928245	0.09318	0.4404703	-1.08494191079485	0.07996	0.3912705	0.955570176257896	0.28197	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	2.81	0.89	0.18352	-0.665000	0.05386	-1.620000	0.05046	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5902:0.2624:0.1474	4.015	0.09128	928	0.17405	.	.	.	.	.	.	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	0.013458	0.005051	0.009511	0.003472	0.000000	0.034483	0.015244	0.045455	0.05	1021.43	34	chr21	32314646	.	C	T	1021.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.401;DP=407;ExcessHet=0;FS=1.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.917;SOR=0.968	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1033,0,1101	9	0	1	0
chr21	32347148	32347148	G	A	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon22:c.C3676T:p.R1226C	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0139858086451	.	.	0.0007	0	0	0	0	0	0.0059	0.0014	0.0001035	16	154602	rs566480854	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0024	0.0020	0	0.0002	0	8.404e-05	6.311e-05	0.0036	0.0002	0.0003	0.0011	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	2.405e-05	0	0	0	0.0004	0	0	0.0003	0	0.0010	0.088	0.32296	T	0.073	0.43159	T	0.013	0.16609	B	0.002	0.06944	B	0.295019	0.14699	N	0.685094	1	0.08975	N	1.67	0.42885	L	1.49	0.31470	T	-0.55	0.16799	N	0.141	0.14054	-1.0117	0.26385	T	0.060	0.25054	T	10	0.015949696	0.00335	T	0.013986	0.33799	T	0.083	0.24192	.	.	0.151104730317	0.14643	0.2508486468843186	0.24998	.	.	0.426046043634	0.28667	T	0.003401	0.02809	T	-0.439323	0.01305	T	-0.444367	0.28320	T	0.0157934838937721	0.00368	T	0.741726	0.36078	T	0.039382458	0.05427	0.024635432	0.00487	0.039382458	0.05427	0.024635432	0.00487	-5.307	0.40012	T	.	.	0.141	0.30868	B	.	.	1.335046	0.17408	13.15	0.98348237711314268	0.40517	0.21038	0.21259	N	AEFDBCI	0.107616	0.21435	N	-0.764975208257251	0.14229	0.7071454	-0.763300947918621	0.15396	0.8095159	0.998610620642537	0.37309	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.78	1.59	0.22622	0.455000	0.21555	0.331000	0.17284	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.1194:0.1232:0.2209:0.5366	2.819	0.05128	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	855.43	57	chr21	32347148	.	G	A	855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=448;ExcessHet=0;FS=4.504;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.16;SOR=1.056	GT:AD:DP:GQ:PL	0/1:42,32:74:99:867,0,1079	9	0	1	0
chr21	32363296	32363296	A	T	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon11:c.T1369A:p.S457T	.	431	1045	45	1	0	47	0.0219934	.	.	.	728857	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.093	.	0.0013	0.00279553	0.0090	0.0005	0.0049	0	0.0006	0.0026	0.0083	0.0211	0.0017141	265	154602	rs148292685	0.0028	0.0027	0.0023	0.0033	0.0188	0.0027	0.0027	0.0173	0.0170	0.0002	0.0023	0.0046	0	0.0003	0.0188	0.0018	0.0034	0.0181	0.0018	0.0018	0.0017	0.0019	0.0158	0.0017	0.0016	0.0129	0.0119	0.0002	0	0.0014	0.0066	0.0004	0	0.0034	0.0022	0.0009	0.0158	0.097	0.30943	T	0.0	0.92824	D	0.639	0.40375	P	0.122	0.32387	B	0.000169	0.48594	D	0.142475	0.991012	0.41288	D	1.655	0.42436	L	0.9	0.45248	T	-1.25	0.31576	N	0.441	0.47949	-1.0521	0.13818	T	0.087	0.33606	T	10	0.009563148	0.00215	T	.	.	.	0.093	0.26882	.	.	0.251639045875	0.24756	0.45412995113789095	0.45330	.	.	0.485400110483	0.36802	T	0.007222	0.06635	T	-0.498359	0.00584	T	-0.473039	0.25191	T	0.0195881834834753	0.00662	T	0.570043	0.20293	T	0.043129303	0.06666	0.06393683	0.12740	0.043129303	0.06665	0.06393683	0.12740	-3.765	0.20282	T	.	.	0.088	0.11701	B	.	.	2.918152	0.38732	20.8	0.96721356231228084	0.30851	0.93408	0.58137	D	AEFBI	0.135822	0.25629	N	0.00294503760619186	0.41990	2.521621	0.0258237115526748	0.40916	2.449694	0.998509834216329	0.37090	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	2.65	0.30588	3.666000	0.54277	3.057000	0.36144	-0.042000	0.17409	0.997000	0.40164	0.975000	0.29991	0.425000	0.27339	0.7241:0.1411:0.0:0.1348	8.033	0.29634	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013614	0.005263	0.008621	0.008850	0.000000	0.045455	0.023256	0.048780	0.05	1338.43	33	chr21	32363296	.	A	T	1338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.023;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.92;SOR=0.737	GT:AD:DP:GQ:PL	0/1:39,54:93:99:1350,0,912	9	0	1	0
chr21	41275420	41275420	G	A	exonic	BACE2	.	nonsynonymous SNV	BACE2:NM_138992:exon8:c.G1184A:p.R395K	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00633993262405	.	0.000998403	0.0004	0	0.0003	0	0	2.997e-05	0.0011	0.0023	0.0003234	50	154602	rs563744304	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0001	0.0020	0.0019	2.987e-05	2.236e-05	0	0	1.872e-05	0.0012	2.788e-05	0.0002	0.0022	0.0001	0.0001	0.0001	0.0001	0.0029	6.506e-05	5.319e-05	0.0018	0.0014	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0029	0.0	0.91255	D	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	0.19	0.60236	T	0.42	0.03352	N	0.052	0.02366	-0.9762	0.35860	T	0.091	0.34847	T	8	0.0034328103	0.00060	T	0.00634	0.16668	T	0.069	0.20116	0.215	0.13498	0.49340316462	0.48974	.	.	.	.	.	.	.	.	.	.	-0.35979	0.04142	T	-0.294828	0.45268	T	0.0111159283918314	0.00162	T	0.185281	0.01921	T	.	.	.	.	.	.	.	.	-3.486	0.16237	T	.	.	0.112	0.22024	B	.	.	-0.545021	0.01728	0.128	0.76800135869429942	0.11614	0.01798	0.05614	N	AEFBI	0.035188	0.04487	N	-1.65730765524707	0.01004	0.04355126	-1.8187028748861	0.00701	0.03122278	0.999999306321928	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	-11.0	0.00133	-1.429000	0.02543	-4.803000	0.01979	-0.936000	0.02120	0.001000	0.13787	0.000000	0.08366	0.263000	0.23594	0.1316:0.1673:0.3592:0.3419	3.221	0.06319	975	0.05339	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1513.43	33	chr21	41275420	.	G	A	1513.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.573;DP=450;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.573;SOR=0.603	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1525,0,1874	9	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	749.38	81	chr21	41918930	.	C	G	749.38	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.894;DP=915;ExcessHet=4.5998;FS=112.686;InbreedingCoeff=-0.5212;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.12;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,17:117:97:0|1:41918930_C_G:97,0,3753:41918930	2	0	6	2
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	740.79	81	chr21	41918931	.	C	G	740.79	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.421;DP=897;ExcessHet=2.8389;FS=112.686;InbreedingCoeff=-0.4718;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.926;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,17:117:97:0|1:41918930_C_G:97,0,3753:41918930	4	0	5	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	759.41	80	chr21	41918933	.	C	G	759.41	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.116;DP=836;ExcessHet=2.8389;FS=113.692;InbreedingCoeff=-0.4246;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.05;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,17:114:99:0|1:41918930_C_G:106,0,3688:41918930	5	0	5	0
chr21	41991659	41991659	C	T	exonic	ZBTB21	.	nonsynonymous SNV	ZBTB21:NM_020727:exon2:c.G2437A:p.V813I,ZBTB21:NM_001098402:exon3:c.G2437A:p.V813I,ZBTB21:NM_001320729:exon3:c.G1834A:p.V612I,ZBTB21:NM_001098403:exon4:c.G1834A:p.V612I,ZBTB21:NM_001320731:exon4:c.G2437A:p.V813I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00268225794095	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924745278	6.704e-05	6.704e-05	6.534e-05	6.875e-05	8.183e-05	5.628e-05	5.171e-05	6.784e-05	6.283e-05	5.974e-05	2.236e-05	0	0	0	0	8.183e-05	4.967e-05	1.159e-05	5.259e-05	5.254e-05	3.855e-05	6.729e-05	0.0001	2.558e-05	1.831e-05	6.287e-05	4.303e-05	0.0001	0	0	0	0	0	0	2.94e-05	0	0	0.413	0.10052	T	0.592	0.08161	T	0.004	0.12183	B	0.001	0.04355	B	0.190116	0.03244	N	1.771920	1	0.08975	N	-0.69	0.01958	N	3.58	0.06214	T	-0.09	0.09460	N	0.049	0.02088	-0.9604	0.39106	T	0.007	0.02478	T	10	0.033360332	0.01510	T	0.002682	0.05492	T	0.015	0.02232	0.349	0.34598	0.15499578495	0.15088	0.09958095292969532	0.09889	0.142958822962	0.16129	0.227120473981	0.01762	T	0.012294	0.10832	T	-0.45541	0.01049	T	-0.828296	0.01293	T	0.0190952640272793	0.00617	T	0.609739	0.23084	T	0.016244464	0.00185	0.020686861	0.00149	0.016244464	0.00185	0.020686861	0.00149	-4.363	0.29051	T	.	.	0.068	0.02639	B	.;.;.;.	.;.;.;.	0.035064	0.04530	1.225	0.30256096209020628	0.01645	0.13745	0.18028	N	AEFGBCI	0.057991	0.10845	N	-1.2492662861105	0.04310	0.1942428	-1.22555734126506	0.05502	0.2623304	0.915432125482879	0.26483	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.01	-1.03	0.09586	-0.135000	0.10399	-5.552000	0.01678	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.1053:0.2403:0.2241:0.4303	2.2	0.03682	986	0.02773	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1790.43	33	chr21	41991659	.	C	T	1790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.31;DP=477;ExcessHet=0;FS=2.061;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.987;SOR=0.535	GT:AD:DP:GQ:PL	0/1:79,68:147:99:1802,0,1864	9	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	4153.92	51	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	4153.92	.	AC=5;AF=0.278;AN=18;BaseQRankSum=0.58;DP=769;ExcessHet=3.7549;FS=6.965;InbreedingCoeff=-0.3033;MLEAC=5;MLEAF=0.278;MQ=59.9;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.479;SOR=0.351	GT:AD:DP:GQ:PL	0/1:52,12:64:99:337,0,1732	5	1	3	1
chr21	42850149	42850149	T	A	exonic	WDR4	.	nonsynonymous SNV	WDR4:NM_001260474:exon11:c.A1136T:p.Q379L,WDR4:NM_001260475:exon11:c.A701T:p.Q234L,WDR4:NM_001260476:exon11:c.A701T:p.Q234L,WDR4:NM_001260477:exon11:c.A701T:p.Q234L,WDR4:NM_018669:exon11:c.A1139T:p.Q380L,WDR4:NM_033661:exon11:c.A1139T:p.Q380L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0616507693157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.075	0.42794	T	0.002	0.09854	B	0.002	0.06944	B	0.007588	0.31308	N	0.273852	0.878797	0.35708	D	2.075	0.57047	M	0.13	0.60973	T	-3.74	0.71042	D	0.419	0.45898	-0.8889	0.49029	T	0.158	0.49043	T	10	0.16801122	0.31328	T	0.061651	0.68401	D	0.143	0.38195	0.202	0.11659	0.55342899667	0.55001	0.32795068581541864	0.32708	0.022659121963	0.02288	0.363784790039	0.19935	T	0.217063	0.57941	T	-0.0409185	0.45811	T	-0.296553	0.45087	T	0.820024192333221	0.47775	D	0.537046	0.18049	T	0.1408718	0.32484	0.14295752	0.33991	0.1408718	0.32484	0.14295752	0.33990	-7.129	0.54970	T	.	.	0.108	0.20508	B	.;.	.;.	2.019186	0.25662	16.84	0.984204820163609	0.41277	0.89151	0.49445	D	AEFDBCI	0.238015	0.36020	N	-0.316978165714948	0.28502	1.572682	-0.256243640947695	0.29557	1.656874	0.980257894389825	0.30116	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.77	2.35	0.28166	1.899000	0.39450	0.128000	0.15008	0.605000	0.46263	1.000000	0.71638	0.941000	0.28781	0.591000	0.31164	0.1669:0.0922:0.0:0.7409	4.707	0.12235	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1572.43	95	chr21	42850149	.	T	A	1572.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.49;DP=727;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.019;SOR=0.903	GT:AD:DP:GQ:PL	0/1:92,58:150:99:1584,0,2359	9	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3493.31	299	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	3493.31	.	AC=8;AF=0.444;AN=18;DP=3412;ExcessHet=1.5636;FS=2.538;InbreedingCoeff=-0.0667;MLEAC=9;MLEAF=0.5;MQ=59.94;QD=1.42;SOR=0.538	GT:AD:DP:GQ:PL	1/1:0,331:331:99:14428,998,0	2	1	6	1
chr21	45267554	45267554	G	A	exonic	POFUT2	.	nonsynonymous SNV	POFUT2:NM_015227:exon8:c.C1172T:p.S391L	.	429	1062	31	0	0	31	0.0143852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0099	0.0105831	0.0095	0.0115	0.0063	0.0006	0.0015	0.0095	0.0111	0.0185	0.0092237	1426	154602	rs115237543	0.0088	0.0088	0.0084	0.0092	0.0182	0.0087	0.0086	0.0174	0.0171	0.0104	0.0067	0.0080	0.0008	0.0022	0.0114	0.0087	0.0103	0.0182	0.0088	0.0088	0.0092	0.0084	0.0199	0.0084	0.0082	0.0167	0.0155	0.0105	0.0011	0.0062	0.0066	0.0019	0.0026	0.0272	0.0090	0.0123	0.0199	0.494	0.07895	T	0.031	0.53788	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	2.04	0.00388	N	0.173	0.18512	-1.0652	0.10502	T	0.050	0.21456	T	7	0.0031752586	0.00053	T	.	.	.	0.020	0.03691	.	.	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.72212	0.00027	T	-0.795116	0.02027	T	2.68504318228224e-05	0.00000	T	0.374863	0.08927	T	.	.	.	.	.	.	.	.	-3.148	0.11855	T	.	.	0.099	0.16756	B	.	.	-0.274959	0.02728	0.361	0.78622477381966449	0.12381	0.01346	0.04623	N	AEFDGBI	0.037692	0.05221	N	-1.54895673051367	0.01541	0.06730489	-1.70822552240981	0.01102	0.04948687	0.999979400801405	0.50053	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	1.42	-2.83	0.05425	-0.477000	0.06663	-0.957000	0.06793	-2.791000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1714:0.5814:0.2472:0.0	5.588	0.16567	929	0.16858	.	.	.	.	.	rs115237543	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024169	0.015152	0.020380	0.020468	0.000000	0.043103	0.036585	0.018939	0.05	4003.43	36	chr21	45267554	.	G	A	4003.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=603;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-1.155;SOR=0.627	GT:AD:DP:GQ:PL	0/1:123,156:279:99:4015,0,2826	9	0	1	0
chr21	46215298	46215298	G	A	exonic	LSS	.	nonsynonymous SNV	LSS:NM_001145437:exon8:c.C653T:p.A218V,LSS:NM_001001438:exon9:c.C893T:p.A298V,LSS:NM_001145436:exon9:c.C860T:p.A287V,LSS:NM_002340:exon9:c.C893T:p.A298V	Cataract 44, Autosomal recessive	433	1079	10	0	0	10	0.00461255	0.0006	0.15	.	1533022	LSS-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.038	.	0.0004	0.00519169	0.0040	0.0001	0.0008	0.0194	0.0003	0.0006	0.0074	0.0145	0.0028266	437	154602	rs201713860	0.0015	0.0015	0.0011	0.0019	0.0130	0.0014	0.0014	0.0121	0.0117	3.006e-05	0.0002	0.0002	0.0130	0.0002	0.0029	0.0004	0.0010	0.0126	0.0012	0.0012	0.0008	0.0016	0.0135	0.0010	0.0010	0.0110	0.0100	7.222e-05	0	0.0006	0	0.0135	0.0005	0	0.0004	0.0009	0.0124	0.513	0.07425	T	0.614	0.09298	T	0.002	0.09854	B	0.0	0.01387	B	0.586277	0.11094	N	0.837062	0.984187	0.24822	N	1.495	0.37439	L	1.46	0.32238	T	-1.22	0.31576	N	0.237	0.27197	-1.0098	0.26981	T	0.016	0.06711	T	10	0.0070340037	0.00160	T	0.007566	0.20086	T	0.038	0.09825	.	.	0.184867976434	0.18130	0.5960744481953376	0.59537	0.28602195282	0.31010	0.254594683647	0.04267	T	0.056938	0.30426	T	-0.645131	0.00078	T	-0.685183	0.06672	T	0.0118133632872924	0.00183	T	0.729627	0.34527	T	0.08526793	0.19773	0.049082696	0.07425	0.048312847	0.08399	0.037260924	0.03342	-4.742	0.38758	T	.	.	0.084	0.19720	B	.;.;.;.	.;.;.;.	-0.074480	0.03794	0.802	0.68026145806300997	0.08532	0.14540	0.18457	N	AEFBCI	0.071907	0.14332	N	-1.52998585759555	0.01655	0.07240483	-1.620730661718	0.01534	0.06949419	0.999907498865793	0.45458	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.28	-8.66	0.00751	-0.058000	0.11707	-0.610000	0.08226	-0.128000	0.13240	0.001000	0.13787	0.000000	0.08366	0.030000	0.13115	0.4401:0.205:0.3549:0.0	8.250	0.30872	934	0.15400	Squalene cyclase, N-terminal;Squalene cyclase, N-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002028	0.000000	0.002732	0.000000	0.000000	0.000000	0.003106	0.011364	0.05	286.43	32	chr21	46215298	.	G	A	286.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.518;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.09;ReadPosRankSum=0.314;SOR=0.614	GT:AD:DP:GQ:PL	0/1:31,16:47:99:298,0,727	9	0	1	0
chr21	46443908	46443908	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon45:c.C9208T:p.R3070C,PCNT:NM_006031:exon45:c.C9799T:p.R3267C	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	6	1514	2	0	0	2	0.000660066	.	.	.	1964921	not_provided|PCNT-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00847201958454	.	.	4.224e-05	0	0	0	0	1.544e-05	0	0.0002	3.88e-05	6	154602	rs773911532	1.849e-05	1.847e-05	1.499e-05	2.202e-05	0.0003	1.266e-05	1.085e-05	0.0002	0.0001	2.991e-05	0	0	0	0	0	2.698e-06	1.659e-05	0.0003	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.127	0.27080	T	0.203	0.27325	T	0.561	0.38362	P	0.057	0.26280	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.63	0.01817	T	-0.14	0.09135	N	0.147	0.14905	-0.9303	0.44095	T	0.003	0.00800	T	9	0.054762274	0.05881	T	0.008472	0.22407	T	0.057	0.16321	0.34	0.33141	0.337868961071	0.33390	0.24305179013395167	0.24219	0.111437477428	0.12582	0.374944597483	0.21538	T	0.07657	0.35450	T	-0.515136	0.00469	T	-0.685585	0.06649	T	0.0545116628553073	0.06276	T	0.367963	0.08605	T	0.06861978	0.14964	0.029796133	0.01358	0.06861978	0.14964	0.029796133	0.01357	-5.986	0.46163	T	.	.	0.112	0.22061	B	.	.	0.565849	0.09345	6.125	0.571473947808259	0.05705	0.02987	0.07842	N	AEFDBCI	0.026913	0.02105	N	-1.09506449607721	0.06733	0.3108223	-1.2477238573795	0.05165	0.2454418	0.991304362671191	0.32442	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	2.85	-3.47	0.04452	-1.534000	0.02317	-2.176000	0.04101	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1772:0.2206:0.3505:0.2517	0.851	0.01097	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1400.43	38	chr21	46443908	.	C	T	1400.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.54;DP=432;ExcessHet=0;FS=2.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.035;SOR=0.981	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1412,0,885	9	0	1	0
chr21	46498665	46498665	G	A	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146115:exon5:c.G487A:p.V163I,DIP2A:NM_001146116:exon5:c.G487A:p.V163I,DIP2A:NM_001353942:exon5:c.G487A:p.V163I,DIP2A:NM_001353943:exon5:c.G487A:p.V163I,DIP2A:NM_015151:exon5:c.G487A:p.V163I,DIP2A:NM_206889:exon5:c.G487A:p.V163I,DIP2A:NM_206890:exon5:c.G487A:p.V163I,DIP2A:NM_206891:exon5:c.G487A:p.V163I	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0004	0.00239617	0.0023	0.0001	0.0008	0	0.0002	0.0005	0.0056	0.0134	0.0019534	302	154602	rs199555654	0.0012	0.0012	0.0008	0.0016	0.0129	0.0011	0.0011	0.0123	0.0120	2.987e-05	0.0002	0.0001	5.038e-05	0.0003	0.0029	0.0004	0.0008	0.0129	0.0006	0.0006	0.0005	0.0007	0.0098	0.0005	0.0004	0.0076	0.0068	2.408e-05	0	0.0007	0	0.0004	0.0005	0	0.0003	0.0005	0.0098	0.513	0.07846	T	0.685	0.09760	T	0.002	0.12996	B	0.008	0.16012	B	0.154993	0.17844	N	0.553623	0.916083	0.36543	D	1.155	0.29575	L	1.95	0.22678	T	-0.02	0.14978	N	0.101	0.12913	-1.0395	0.17465	T	0.028	0.12190	T	10	0.0039798617	0.00077	T	.	.	.	0.102	0.29158	.	.	0.171220215726	0.16700	0.14141041502785617	0.14064	0.203220193723	0.22737	0.23514983058	0.02371	T	0.016431	0.13584	T	-0.598165	0.00150	T	-0.620322	0.11160	T	0.0129738828206204	0.00225	T	0.69953	0.30934	T	0.016957363	0.00235	0.019281289	0.00083	0.016957363	0.00235	0.019281289	0.00083	-4.619	0.35351	T	.	.	0.079	0.07697	B	.;.;.;.;.	.;.;.;.;.	1.436971	0.18559	13.80	0.98899051363821378	0.48145	0.93939	0.59631	D	AEFDGBI	0.203856	0.33033	N	-0.524796650724327	0.21281	1.128194	-0.410740659589951	0.24682	1.352972	0.999989550224191	0.51787	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.54	-0.171	0.12677	1.725000	0.37696	-1.545000	0.05202	0.676000	0.76740	0.576000	0.27554	0.000000	0.08366	0.998000	0.85391	0.3391:0.1261:0.5348:0.0	5.795	0.17647	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	1326.43	33	chr21	46498665	.	G	A	1326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.802;DP=460;ExcessHet=0;FS=2.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.171;SOR=0.96	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1338,0,1457	9	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.6	25769.9	170	chr22	18925165	.	A	G	25769.9	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.855;DP=1326;ExcessHet=0.0072;FS=0.629;InbreedingCoeff=0.5833;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0.848;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,150:150:99:4502,449,0	3	5	2	0
chr22	20566526	20566526	-	CAGCAGCAGCAG	exonic	MED15	.	nonframeshift insertion	MED15:NM_001293236:exon6:c.537_538insCAGCAGCAGCAG:p.Q191_A192insQQQQ,MED15:NM_001003891:exon7:c.750_751insCAGCAGCAGCAG:p.Q262_A263insQQQQ,MED15:NM_001293234:exon7:c.750_751insCAGCAGCAGCAG:p.Q262_A263insQQQQ,MED15:NM_001293235:exon7:c.672_673insCAGCAGCAGCAG:p.Q236_A237insQQQQ,MED15:NM_001293237:exon7:c.672_673insCAGCAGCAGCAG:p.Q236_A237insQQQQ,MED15:NM_015889:exon7:c.750_751insCAGCAGCAGCAG:p.Q262_A263insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0038	0.0013	0.0003	0.0039	0.0015	0	0.0028	0.0003074	8	26028	rs780625319	0.0014	0.0014	0.0014	0.0015	0.0114	0.0014	0.0014	0.0092	0.0084	0.0054	0.0013	0.0061	0.0002	0.0048	0.0114	0.0009	0.0023	0.0026	0.0028	0.0028	0.0025	0.0032	0.0047	0.0026	0.0025	0.0042	0.0040	0.0047	0.0089	0.0024	0.0078	0.0004	0.0060	0.0103	0.0011	0.0034	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3625.54	34	chr22	20566526	.	A	ACAGCAGCAGCAG	3625.54	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.25;DP=515;ExcessHet=0.6204;FS=8.117;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=1.02;SOR=0.57	GT:AD:DP:GQ:PL	1/1:0,24:26:96:1383,97,0	9	1	0	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	745.45	15	chr22	21216084	.	C	T	745.45	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=155;ExcessHet=10.3881;FS=2.76;InbreedingCoeff=-0.7054;MLEAC=8;MLEAF=0.4;MQ=44.76;MQRankSum=-1.805;QD=6.26;ReadPosRankSum=1.17;SOR=0.539	GT:AD:DP:GQ:PL	0/1:10,4:14:99:125,0,239	2	0	8	0
chr22	21221866	21221866	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon8:c.G382A:p.G128R	.	367	1072	83	0	0	83	0.0372699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	.	.	0.0101	0.0015	0.0037	0.0001	0.0029	0.0088	0.0164	0.0331	0.0010373	27	26028	rs201167132	0.0033	0.0036	0.0033	0.0034	0.0057	0.0031	0.0031	0.0042	0.0038	0	0.0032	0.0150	4.759e-05	0.0013	0.0057	0.0034	0.0043	0.0053	0.0035	0.0055	0.0035	0.0035	0.0142	0.0032	0.0030	0.0107	0.0094	0.0007	0.0014	0.0034	0.0237	0.0006	0.0013	0.0254	0.0041	0.0046	0.0142	0.005	0.63226	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999955	0.52396	D	.	.	.	2.16	0.19166	T	-6.12	0.90060	D	0.284	0.32148	-0.7560	0.57620	T	0.158	0.49076	T	6	0.01360032	0.00288	T	.	.	.	0.205	0.49236	0.762	0.89053	.	.	0.9514192744851678	0.95125	3.4416008843	0.99721	.	.	.	.	.	.	-0.084608	0.38964	T	-0.35931	0.38133	T	0.0540700048513329	0.06201	T	0.90231	0.65919	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.65132	A	.;.	.;.	1.949334	0.24760	16.52	0.99714884515000801	0.81633	0.95373	0.64467	D	AEFDBI	0.718415	0.66962	D	0.309555566560693	0.56638	3.828811	0.0371836120562764	0.41456	2.490915	0.148356361276714	0.17397	0.549168	0.22868	0	0.627178	0.54094	0	0.600433	0.31921	0	0.564101	0.26826	0	.	.	2.4	2.4	0.28568	6.258000	0.72447	7.360000	0.58341	0.288000	0.18739	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	8.346	0.31437	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	219.43	39	chr22	21221866	.	C	T	219.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=498;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.5;MQRankSum=-0.258;QD=1.51;ReadPosRankSum=1.31;SOR=0.885	GT:AD:DP:GQ:PL	0/1:124,21:145:99:231,0,3267	9	0	1	0
chr22	21221897	21221897	G	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon8:c.C351A:p.S117R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00293438226244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.23905	T	0.087	0.42086	T	.	.	.	.	.	.	.	.	.	.	0.996417	0.23022	N	.	.	.	3.14	0.07920	T	-1.43	0.35194	N	0.158	0.16447	-0.9669	0.37834	T	0.015	0.06042	T	7	0.22265306	0.39023	T	0.002934	0.06221	T	0.097	0.27909	0.534	0.64293	0.043077524339	0.03247	0.36817744738067076	0.36731	1.93781020124	0.93215	.	.	.	.	.	.	-0.321371	0.06786	T	-0.699404	0.05859	T	0.36116955568088	0.27455	T	0.550145	0.18957	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.55617	B	.;.	.;.	1.618993	0.20681	14.86	0.97841901274871423	0.36332	0.76670	0.37621	D	AEFDBI	0.177013	0.30424	N	-0.211117377127981	0.32677	1.845458	-0.229100765260101	0.30499	1.717718	1.38587184881176E-5	0.02871	0.553676	0.25195	0	0.563428	0.19063	0	0.600433	0.31921	0	0.620846	0.47308	0	.	.	2.4	1.36	0.21139	3.770000	0.55020	3.561000	0.39087	0.322000	0.19397	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.1994:0.0:0.8006:0.0	4.456	0.11063	444	0.79803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	565.43	39	chr22	21221897	.	G	T	565.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=495;ExcessHet=0;FS=13.355;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.06;MQRankSum=-0.85;QD=3.93;ReadPosRankSum=2.04;SOR=1.733	GT:AD:DP:GQ:PL	0/1:111,33:144:99:577,0,2718	9	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3559.91	73	chr22	23311788	.	T	TCCGG	3559.91	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.584;DP=874;ExcessHet=7.0302;FS=18.299;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.4;MQRankSum=-7.428;QD=5.06;ReadPosRankSum=0.133;SOR=1.82	GT:AD:DP:GQ:PL	0/1:90,28:118:99:904,0,3655	3	0	7	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	586.45	59	chr22	23311830	.	G	A	586.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.54;DP=598;ExcessHet=0.7463;FS=41.55;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=57.49;MQRankSum=-8.96;QD=2;ReadPosRankSum=-2.878;SOR=3.036	GT:AD:DP:GQ:PL	0/1:90,17:107:99:228,0,2354	7	0	3	0
chr22	24623906	24623906	A	G	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon11:c.A1010G:p.D337G,GGT1:NM_013430:exon11:c.A1010G:p.D337G,GGT1:NM_013421:exon12:c.A1010G:p.D337G	.	472	1015	35	0	0	35	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00642018502782	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201278692	0.0001	0.0014	9.32e-05	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	0	0.0002	0.0011	0	7.524e-05	0.0005	5.962e-05	0.0001	0.0011	1.977e-05	0.0002	2.577e-05	1.349e-05	4.424e-05	5.26e-06	2.46e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.424e-05	0	0	0.042	0.45039	D	0.109	0.37449	T	0.003	0.11197	B	0.008	0.13708	B	0.026060	0.25985	U	0.393704	0.984754	0.24772	N	0.86	0.21358	L	3.06	0.08634	T	-2.81	0.59389	D	0.31	0.37923	-1.0345	0.19014	T	0.023	0.09787	T	10	0.16224849	0.30413	T	0.00642	0.16899	T	0.071	0.20720	.	.	0.221890330934	0.21812	0.7310437235026361	0.75440	.	.	0.432777583599	0.29587	T	0.174211	0.52335	T	-0.213582	0.18877	T	-0.544572	0.17850	T	0.226054698228836	0.21762	T	0.886611	0.61335	D	0.32057133	0.54688	0.22708768	0.47707	0.32057133	0.54688	0.22708768	0.47706	-7.992	0.61016	D	.	.	0.162	0.37558	B	.;.;.;.	.;.;.;.	2.344238	0.30048	18.32	0.96975519854809777	0.31839	0.76743	0.37663	D	AEFI	0.563045	0.57039	D	-0.572254272150079	0.19791	1.03857	-0.607656926219025	0.19295	1.034643	4.35844693757602E-4	0.06970	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	3.53	2.49	0.29274	3.351000	0.51947	4.330000	0.43024	0.725000	0.85415	0.220000	0.24536	0.114000	0.22828	0.481000	0.28588	0.8995:0.0:0.1005:0.0	8.022	0.29573	684	0.59539	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	144.43	39	chr22	24623906	.	A	G	144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=313;ExcessHet=0;FS=8.688;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.46;MQRankSum=-4.3;QD=3.07;ReadPosRankSum=-3.239;SOR=2.376	GT:AD:DP:GQ:PL	0/1:37,10:47:99:156,0,969	9	0	1	0
chr22	26292616	26292616	T	C	exonic	SEZ6L	.	nonsynonymous SNV	SEZ6L:NM_001184773:exon2:c.T305C:p.L102P,SEZ6L:NM_001184774:exon2:c.T305C:p.L102P,SEZ6L:NM_001184775:exon2:c.T305C:p.L102P,SEZ6L:NM_001184776:exon2:c.T305C:p.L102P,SEZ6L:NM_001184777:exon2:c.T305C:p.L102P,SEZ6L:NM_021115:exon2:c.T305C:p.L102P	.	427	1093	2	0	0	2	0.000914077	.	.	.	3321349	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.0262413228191	.	.	1.718e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760566198	1.506e-05	1.505e-05	5.447e-06	2.477e-05	0.0002	9.86e-06	8.42e-06	0.0002	0.0001	0	0	0	2.52e-05	0	0	0	0	0.0002	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.009	0.57480	D	0.215	0.34359	T	0.61	0.49514	P	0.205	0.46637	B	.	.	.	.	0.999999	0.08975	N	0.695	0.17993	N	0.88	0.46028	T	-1.11	0.32590	N	0.163	0.17278	-1.0531	0.13547	T	0.052	0.21999	T	9	0.07964423	0.12837	T	0.026241	0.49161	D	0.024	0.04979	0.147	0.05039	0.082315109003	0.07666	0.3719180183878013	0.37105	0.262336419958	0.28795	0.346765100956	0.17445	T	0.019165	0.37447	T	-0.417015	0.01788	T	-0.57711	0.14803	T	0.0535650141537189	0.06115	T	0.621038	0.23867	T	0.2555223	0.48587	0.16159925	0.37579	0.2555223	0.48587	0.16159925	0.37579	-3.136	0.11820	T	.	.	0.086	0.10739	B	.;.;.;.;.;.	.;.;.;.;.;.	0.794638	0.11650	8.236	0.98714387292128003	0.45098	0.02761	0.07453	N	AEFDGI	0.145605	0.26886	N	-1.01049505470971	0.08385	0.3929746	-1.10539335969296	0.07596	0.370129	0.0208627410430535	0.13298	0.624846	0.39970	0	0.547309	0.14657	0	0.650271	0.49498	0	0.620846	0.47308	0	.	.	3.76	-0.962	0.09806	-1.080000	0.03517	-0.528000	0.08651	0.630000	0.51874	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.1506:0.3872:0.0:0.4621	4.727	0.12326	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1294.43	34	chr22	26292616	.	T	C	1294.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.835;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.903;SOR=0.687	GT:AD:DP:GQ:PL	0/1:42,55:97:99:1306,0,1120	9	0	1	0
chr22	31136716	31136716	A	G	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon6:c.T1283C:p.L428P	.	420	1095	7	0	0	7	0.00318616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.102795277501	0.0007	0.000199681	0.0008	0	0.0009	0	0	0.0011	0.0022	0.0008	0.0007568	117	154602	rs142563030	0.0008	0.0008	0.0007	0.0008	0.0040	0.0007	0.0007	0.0027	0.0023	5.984e-05	0.0008	0.0105	0	1.873e-05	0.0040	0.0006	0.0013	0.0007	0.0009	0.0009	0.0010	0.0007	0.0019	0.0007	0.0007	0.0014	0.0012	9.621e-05	0	0.0019	0.0098	0	0	0.0034	0.0008	0.0028	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.001648	0.38382	N	0.169627	1	0.81001	D	2.695	0.78878	M	1.4	0.33630	T	-2.37	0.52289	N	0.946	0.95374	-0.6777	0.61479	T	0.216	0.57823	T	10	0.043250263	0.03155	T	0.102795	0.77647	D	0.280	0.59740	.	.	0.673645370697	0.67088	0.8436023340581396	0.84321	0.515464313229	0.49457	0.554244875908	0.46455	T	0.147861	0.48615	T	-0.199143	0.20928	T	-0.115179	0.62196	T	0.181187972426414	0.19310	T	0.665433	0.27458	T	0.82684386	0.85684	0.779948	0.87026	0.82684386	0.85686	0.779948	0.87027	-10.495	0.76819	D	.	.	0.318	0.54346	B	.	.	4.623292	0.73436	26.0	0.99874126562707	0.95160	0.97507	0.75198	D	AEFDBI	0.854298	0.77131	D	0.615315093846427	0.74143	6.082795	0.559952795195116	0.72091	5.75577	0.999998253996538	0.74766	0.631515	0.41029	0	0.547309	0.14657	0	0.697927	0.64325	0	0.586402	0.36253	0	.	.	5.84	5.84	0.93373	4.807000	0.62267	11.162000	0.87682	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.300000	0.24500	1.0:0.0:0.0:0.0	13.600	0.61479	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.017241	0.003049	0.003788	0.05	724.43	37	chr22	31136716	.	A	G	724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.93;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-1.089;SOR=0.645	GT:AD:DP:GQ:PL	0/1:64,36:100:99:736,0,1676	9	0	1	0
chr22	38082797	38082797	A	G	exonic	SLC16A8	.	nonsynonymous SNV	SLC16A8:NM_013356:exon3:c.T77C:p.F26S	.	414	1088	20	0	0	20	0.00910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	.	0.0008	0.00519169	0.0059	0	0.0024	0.0003	0.0009	0.0028	0.0028	0.0189	0.0025355	392	154602	rs76230437	0.0021	0.0021	0.0017	0.0025	0.0140	0.0020	0.0020	0.0133	0.0131	0.0003	0.0010	0.0024	2.555e-05	0.0001	0.0047	0.0014	0.0024	0.0140	0.0016	0.0016	0.0014	0.0017	0.0153	0.0014	0.0014	0.0125	0.0115	0.0001	0.0121	0.0007	0.0026	0	0.0003	0	0.0018	0.0024	0.0153	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000005	0.62929	D	0.000000	0.999998	0.58761	D	3.575	0.93507	H	0.9	0.45248	T	-6.62	0.95815	D	0.673	0.68082	-0.2105	0.77401	T	0.322	0.69056	T	10	0.011802018	0.00256	T	.	.	.	0.614	0.84932	.	.	0.650396906566	0.64749	0.9199488251834103	0.91970	0.940998533728	0.72202	0.707973182201	0.68300	T	0.451162	0.79199	T	-0.0446398	0.45257	T	0.174778	0.81693	D	0.155474108007556	0.17531	T	0.933907	0.75876	D	0.9502605	0.96292	0.95024955	0.98414	0.9502605	0.96292	0.95024955	0.98415	-10.613	0.77494	D	.	.	0.950	0.86878	P	.;.	.;.	4.806610	0.78151	26.8	0.99847016519748233	0.92663	0.94348	0.60879	D	AEFDGBHCI	0.887559	0.81990	D	0.800811689162397	0.86157	8.796093	0.705053027307735	0.82764	7.848117	0.999999999989457	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.45	4.45	0.53365	7.292000	0.78084	6.765000	0.56546	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.018	0.64051	504	0.75712	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007700	0.010870	0.005464	0.002994	0.000000	0.000000	0.012579	0.015504	0.05	523.43	37	chr22	38082797	.	A	G	523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.054;DP=362;ExcessHet=0;FS=1.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=1.23;SOR=0.412	GT:AD:DP:GQ:PL	0/1:16,18:34:99:535,0,445	9	0	1	0
chr22	41238078	41238078	A	G	exonic	CHADL	.	nonsynonymous SNV	CHADL:NM_138481:exon3:c.T994C:p.S332P	.	452	1057	12	1	0	14	0.00657895	.	.	.	2347163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.557145678989	.	.	0	.	0	.	.	0	0	0	3.84e-05	1	26028	rs755194551	0.0002	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0032	0.0030	0	0.0001	0	3.824e-05	0	0.0033	2.95e-05	0.0004	0.0038	0.0002	0.0002	0.0001	0.0003	0.0042	0.0002	0.0001	0.0028	0.0023	2.427e-05	0	0.0004	0	0.0004	0	0	5.952e-05	0.0005	0.0042	0.369	0.11586	T	0.165	0.30926	T	0.815	0.45525	P	0.274	0.40037	B	0.051785	0.22951	N	0.397144	1	0.08975	N	0.47	0.13106	N	0.22	0.59851	T	-0.09	0.08340	N	0.206	0.22870	-0.9785	0.35345	T	0.104	0.38243	T	10	0.044615835	0.03439	T	0.557146	0.95942	D	0.080	0.23350	0.315	0.29096	0.263140351381	0.25927	0.2954393941868553	0.29456	0.0445187300976	0.04807	0.871395349503	0.92767	D	0.002134	0.01537	T	-0.0684965	0.41567	T	-0.336167	0.40778	T	0.284155040979385	0.24345	T	0.552145	0.19060	T	0.08458383	0.19585	0.12655723	0.30478	0.08458383	0.19585	0.12655723	0.30477	-1.843	0.02640	T	.	.	0.225	0.45653	B	.	.	2.142989	0.27288	17.41	0.98117474734074439	0.38407	0.04016	0.09447	N	AEFDBCIJ	0.058885	0.11081	N	-0.444567700248682	0.23925	1.288218	-0.528128382001617	0.21391	1.15694	0.999998958435255	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.166054	0.03999	2	0.603991	0.37454	0	.	.	4.31	-2.29	0.06419	0.706000	0.25365	0.597000	0.19884	0.654000	0.53741	0.026000	0.20160	0.090000	0.22521	0.921000	0.45669	0.1998:0.6025:0.092:0.1057	5.635	0.16809	159	0.93837	Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	242.51	20	chr22	41238078	.	A	G	242.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.94;DP=182;ExcessHet=0;FS=0;InbreedingCoeff=-0.059;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.368;SOR=0.653	GT:AD:DP:GQ:PL	0/1:16,9:25:99:254,0,362	9	0	1	0
chr22	42573996	42573996	G	A	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon10:c.G694A:p.V232M,SERHL2:NM_014509:exon12:c.G886A:p.V296M	.	430	1084	8	0	0	8	0.00367647	.	.	.	2383963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.384	0.0341924514892	.	.	0.0002	0	0.0003	0.0001	0	4.497e-05	0	0.0007	0.0001229	19	154602	rs754746774	0.0002	0.0002	0.0001	0.0002	0.0009	0.0002	0.0002	0.0008	0.0007	3.131e-05	2.36e-05	0	0.0001	0	0	0.0001	0.0002	0.0009	8.063e-05	7.97e-05	3.929e-05	0.0001	0.0013	4.591e-05	3.587e-05	0.0006	0.0004	4.897e-05	0	0	0	0.0002	0	0	4.469e-05	0	0.0013	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.976405	0.58761	D	3.685	0.94485	H	-0.8	0.73845	T	-2.09	0.57275	N	0.273	0.49874	-0.2095	0.77427	T	0.515	0.81816	D	10	0.13664976	0.25998	T	0.034192	0.55504	D	0.384	0.70112	0.658	0.79585	0.403896168776	0.40002	0.41492812635463944	0.41408	0.0056557040718	0.00497	0.517875909805	0.41326	T	0.029448	0.21097	T	-0.158969	0.26919	T	-0.101962	0.63246	T	0.39264857288154	0.28665	T	0.627737	0.24333	T	0.28807154	0.51813	0.2577608	0.51498	0.28807154	0.51813	0.2577608	0.51497	-8.298	0.63082	D	.	.	0.359	0.57142	A	.;.;.	.;.;.	2.675347	0.34885	19.75	0.99540693313363526	0.70461	0.54383	0.29602	D	AEFDGBCI	0.105711	0.21114	N	0.0416566926404181	0.43761	2.662634	-0.22952283946443	0.30483	1.716746	0.00371688280736598	0.10248	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.97	-1.41	0.08473	2.055000	0.40971	0.506000	0.19038	0.520000	0.23804	0.989000	0.36753	0.044000	0.21668	0.010000	0.09038	0.1573:0.1326:0.5735:0.1366	3.446	0.07050	254	0.90023	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1450.43	51	chr22	42573996	.	G	A	1450.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.352;DP=462;ExcessHet=0;FS=3.279;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.75;MQRankSum=1.31;QD=11.89;ReadPosRankSum=0.918;SOR=0.455	GT:AD:DP:GQ:PL	0/1:58,64:122:99:1462,0,1457	9	0	1	0
chr22	45361894	45361894	C	T	exonic	SMC1B	.	nonsynonymous SNV	SMC1B:NM_001291501:exon17:c.G2653A:p.E885K,SMC1B:NM_148674:exon17:c.G2653A:p.E885K	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0419537346349	.	0.000399361	0.0004	0	0	0	0	4.497e-05	0	0.0024	0.0002911	45	154602	rs529272643	0.0002	0.0002	9.665e-05	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	2.987e-05	0	0	5.039e-05	0	0.0002	2.608e-05	8.279e-05	0.0026	7.88e-05	8.531e-05	6.425e-05	9.402e-05	0.0021	4.494e-05	3.51e-05	0.0011	0.0009	0	0	0	0	0	0	0	2.94e-05	0	0.0021	0.077	0.34095	T	0.441	0.29153	T	.	.	.	.	.	.	0.073836	0.21321	N	0.390864	1	0.08975	N	.	.	.	-1.37	0.80214	T	-2.07	0.47344	N	0.107	0.09349	-0.7602	0.57394	T	0.315	0.68477	T	10	0.009447187	0.00213	T	0.041954	0.60207	D	0.293	0.61272	0.521	0.62368	0.393040851499	0.38920	0.20166413036344266	0.20083	0.316803316336	0.33933	0.379671275616	0.22210	T	.	.	.	-0.367649	0.03714	T	-0.306427	0.44042	T	0.0287950819075432	0.01806	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14568	B	.;.	.;.	2.424068	0.31176	18.66	0.99533059515087774	0.70025	0.06815	0.12839	N	AEFBI	0.045216	0.07368	N	-0.183835733549436	0.33807	1.92227	-0.144182127154261	0.33634	1.925924	0.00212161380240355	0.09174	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.22	0.49153	1.010000	0.29500	4.838000	0.45259	0.599000	0.40250	0.338000	0.25657	1.000000	0.68203	0.886000	0.42526	0.0:0.7046:0.1778:0.1176	6.953	0.23736	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2248.43	34	chr22	45361894	.	C	T	2248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.539;SOR=0.688	GT:AD:DP:GQ:PL	0/1:74,86:160:99:2260,0,1633	9	0	1	0
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTTTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAAAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.054e-05	8.109e-05	7.508e-05	6.128e-05	0.0003	5.728e-05	5.292e-05	4.931e-05	4.471e-05	0	0	0	0	0.0004	0.0003	6.324e-05	0.0001	1.863e-05	6.941e-05	7.125e-05	7.997e-05	3.873e-05	0.0001	3.179e-05	2.25e-05	3.964e-05	2.571e-05	3.653e-05	0	0	0.0004	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5958.23	606	chrX	6533758	.	A	AGTTCTTCCATCTCGCTTTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	5958.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.06;DP=1766;ExcessHet=0;FS=39.705;InbreedingCoeff=0.5912;MLEAC=2;MLEAF=0.1;MQ=48.87;MQRankSum=-1.097;QD=14.5;ReadPosRankSum=4.49;SOR=0.757	GT:AD:DP:GQ:PL	1/1:1,125:126:99:4382,317,0	9	1	0	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	920.64	163	chrX	10469688	.	G	A	920.64	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.436;DP=881;ExcessHet=10.3881;FS=119.423;InbreedingCoeff=-0.6423;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=0.916;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,10:57:23:0|1:10469688_G_A:23,0,1716:10469688	2	0	8	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1125.6	164	chrX	10469690	.	T	C	1125.6	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.496;DP=905;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.638;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.08;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,19:63:99:0|1:10469688_G_A:196,0,942:10469688	2	0	8	0
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	855.13	159	chrX	10469693	.	T	C	855.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.741;DP=818;ExcessHet=2.8389;FS=132.372;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=0.056;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,10:56:26:0|1:10469688_G_A:26,0,1674:10469688	5	0	5	0
chrX	19007306	19007306	C	T	exonic	ADGRG2	.	nonsynonymous SNV	ADGRG2:NM_001184835:exon17:c.G1504A:p.V502I,ADGRG2:NM_001079860:exon18:c.G1552A:p.V518I,ADGRG2:NM_001184836:exon18:c.G1546A:p.V516I,ADGRG2:NM_001184837:exon18:c.G1528A:p.V510I,ADGRG2:NM_001079859:exon19:c.G1576A:p.V526I,ADGRG2:NM_001184833:exon19:c.G1570A:p.V524I,ADGRG2:NM_001079858:exon20:c.G1618A:p.V540I,ADGRG2:NM_001184834:exon20:c.G1618A:p.V540I,ADGRG2:NM_005756:exon20:c.G1609A:p.V537I	Vas deferens, congenital bilateral aplasia of, X-linked, X-linked	427	1093	1	1	0	3	0.00137049	.	.	.	1018962	Vas_deferens,_congenital_bilateral_aplasia_of,_X-linked	MONDO:MONDO:0010511,MedGen:C4310815,OMIM:300985	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.117	0.355043431874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.292e-05	3.369e-05	3.812e-05	2.229e-05	0.0075	2.41e-05	2.139e-05	0.0054	0.0047	0	0	0	0	0	0.0075	4.774e-06	2.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.13566	T	0.254	0.23433	T	0.174	0.28827	B	0.309	0.41361	B	0.000090	0.51296	D	0.000000	0.999953	0.81001	D	.	.	.	1.46	0.32238	T	0.22	0.04694	N	0.267	0.30233	-1.0911	0.05351	T	0.074	0.29865	T	10	0.24090284	0.41259	T	0.355043	0.92368	D	0.117	0.32689	0.431	0.48007	0.332276917938	0.32835	0.330266794788699	0.32939	0.469536968289	0.46258	0.53571498394	0.43841	T	0.089113	0.38302	T	-0.169049	0.25379	T	-0.480603	0.24382	T	0.750431418418884	0.43309	D	0.880112	0.59716	D	0.10649234	0.25181	0.13962427	0.33308	0.10649234	0.25181	0.13962427	0.33307	-6.776	0.53939	T	.	.	0.088	0.13174	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.970770	0.39591	21.0	0.99694639151532571	0.80180	0.98863	0.87857	D	AEFDGI	.	.	.	.	.	.	.	.	.	0.999999997643772	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.76	5.76	0.90726	5.387000	0.65993	4.858000	0.45442	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	18.891	0.92377	197	0.92378	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.006207	0.013605	0.003711	0.015810	0.000000	0.011765	0.000000	0.000000	0.1	1382.12	34	chrX	19007306	.	C	T	1382.12	.	AC=2;AF=0.1;AN=20;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.79;SOR=1.298	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1405,144,0	9	1	0	0
chrX	27462060	27462060	C	A	exonic	PPP4R3C	.	nonsynonymous SNV	PPP4R3C:NM_207319:exon1:c.G1237T:p.D413Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.20242	B	0.042	0.24114	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10513404	0.19417	T	.	.	.	.	.	.	.	.	.	0.252805400713279	0.25194	.	.	.	.	.	0.060629	0.31438	T	.	.	.	.	.	.	.	.	.	0.256074	0.03980	T	0.10046905	0.23722	0.1403559	0.33459	0.10046905	0.23722	0.1403559	0.33458	-4.006	0.23893	T	.	.	0.145	0.32079	B	.	.	0.835138	0.12065	8.621	0.72893456889119002	0.10133	0.02846	0.07600	N	AEFI	.	.	.	.	.	.	.	.	.	1.33951483526704E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	0.0455939	0.04545	4.45	1.11	0.19640	0.596000	0.23744	-0.147000	0.11458	0.599000	0.40250	0.006000	0.17386	0.000000	0.08366	0.470000	0.28341	0.0:0.5494:0.0:0.4506	5.911	0.18267	654	0.62520	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	32.83	6	chrX	27462060	.	C	A	32.83	.	AC=2;AF=0.1;AN=20;DP=46;ExcessHet=0;FS=0;InbreedingCoeff=0.5482;MLEAC=1;MLEAF=0.05;MQ=60;QD=16.41;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	0
chrX	41342742	41342742	T	C	exonic	DDX3X	.	nonsynonymous SNV	DDX3X:NM_001193417:exon5:c.T401C:p.L134P,DDX3X:NM_001193416:exon6:c.T449C:p.L150P,DDX3X:NM_001356:exon6:c.T449C:p.L150P	Mental retardation, X-linked 102, X-linked recessive, X-linked dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.197333078672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.296e-07	1.098e-05	1.373e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000013	0.62929	N	0.061588	1	0.81001	D	3.33	0.90841	M	1.75	0.26152	T	-6.27	0.90648	D	0.8	0.79889	-0.4382	0.70790	T	0.330	0.69809	T	10	0.5868119	0.66157	D	0.197333	0.86531	D	0.368	0.68757	0.479	0.55823	0.885084433051	0.88395	0.9883408913819848	0.98828	3.5385108973	0.99787	0.880453169346	0.94022	D	0.620388	0.88092	D	-0.0265147	0.47920	T	-0.275863	0.47226	T	0.997506201267242	0.91716	D	0.982502	0.94607	D	0.97501546	0.98708	0.9353828	0.97461	0.97501546	0.98708	0.9353828	0.97462	-16.03	0.97806	D	.	.	1.000	0.99585	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	6.536607	0.95367	34	0.99917132033924416	0.98518	0.95249	0.63992	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999900113	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	4.58	0.56077	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0739:0.0:0.9261	10.932	0.46436	672	0.60758	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	59.43	33	chrX	41342742	.	T	C	59.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.081;DP=490;ExcessHet=0;FS=47.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=-1.49;SOR=4.978	GT:AD:DP:GQ:PL	0/1:98,25:123:71:71,0,2082	9	0	1	0
chrX	43795824	43795824	C	T	exonic	MAOB	.	nonsynonymous SNV	MAOB:NM_000898:exon7:c.G683A:p.R228Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0102905191659	9.5e-05	.	9.148e-05	0.0005	0.0003	0	0	2.088e-05	0	0	5.17e-05	8	154602	rs143144504	1.641e-05	1.639e-05	1.634e-05	1.657e-05	0.0003	1.026e-05	8.46e-06	0.0001	8.739e-05	0.0003	5.683e-05	5.162e-05	0	0	0	5.946e-06	4.342e-05	1.849e-05	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	8.568e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	1.881e-05	0	0.0004	0.08	0.33585	T	0.185	0.28958	T	0.012	0.16265	B	0.014	0.16862	B	0.000045	0.53742	N	0.127637	0.999971	0.53665	D	3.4	0.91674	M	2.89	0.10196	T	-2.91	0.60982	D	0.173	0.18512	-1.0877	0.05925	T	0.033	0.14117	T	10	0.16933647	0.31535	T	0.010291	0.26654	T	0.194	0.47447	.	.	0.615258636671	0.61215	0.6399899603650349	0.63933	0.559000460533	0.52461	0.239816755056	0.02774	T	0.916357	0.98466	D	-0.580541	0.00191	T	-0.717649	0.04910	T	0.293531487486441	0.24737	T	0.828317	0.49240	T	0.3967599	0.60507	0.34384835	0.60091	0.3967599	0.60508	0.34384835	0.60090	-7.025	0.54216	T	.	.	0.089	0.12037	B	.	.	1.818327	0.23107	15.89	0.99733944373921501	0.82975	0.69458	0.34196	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00629976409731053	0.11180	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.29	3.53	0.39533	1.780000	0.38264	0.004000	0.13336	0.599000	0.40250	0.981000	0.35396	0.000000	0.08366	0.937000	0.47636	0.1391:0.7088:0.0:0.1521	7.056	0.24281	611	0.66908	Amine oxidase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1558.12	34	chrX	43795824	.	C	T	1558.12	.	AC=2;AF=0.1;AN=20;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.85;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1581,162,0	9	1	0	0
chrX	50910985	50910985	C	T	exonic	BMP15	.	nonsynonymous SNV	BMP15:NM_005448:exon1:c.C202T:p.R68W	Ovarian dysgenesis 2;Premature ovarian failure 4	2	1519	0	1	0	2	0.000657895	.	.	.	26513	not_provided|BMP15-related_disorder|Ovarian_dysgenesis_2|Premature_ovarian_failure_4	MedGen:C3661900|.|MONDO:MONDO:0010349,MedGen:C1845294,OMIM:300510,Orphanet:243|MONDO:MONDO:0800317,MedGen:C1845295	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.478	0.10899076348	0.0012	0.000529801	0.0010	0.0002	0.0011	0	0	0.0015	0	0.0005	0.0006598	102	154602	rs104894763	0.0012	0.0011	0.0012	0.0011	0.0014	0.0011	0.0011	0.0013	0.0013	0.0003	0.0004	0	3.442e-05	0	0.0002	0.0014	0.0011	0.0002	0.0006	0.0006	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0006	0	0	0	0	0.0011	0.0013	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.877	0.62241	P	0.145698	0.18137	N	0.596339	4.31394e-06	0.08975	A	2.19	0.61577	M	-1.7	0.83072	D	-4.55	0.78553	D	0.152	0.15609	0.168	0.85358	D	0.604	0.85919	D	9	0.3806206	0.54166	T	0.108991	0.78576	D	0.478	0.76946	.	.	0.971775905515	0.97146	0.670924096729619	0.67030	0.163686205249	0.18462	0.222533464432	0.01461	T	0.775334	0.94020	D	-0.194452	0.21606	T	-0.0551444	0.66669	D	0.0815904214978218	0.10190	T	0.881912	0.60169	D	0.19270205	0.40950	0.21276787	0.45760	0.19270205	0.40950	0.21276787	0.45759	-7.927	0.60572	D	0.6123033005061981	0.67998	0.138	0.30022	B	.	.	2.367815	0.30382	18.42	0.99811462840855392	0.89531	0.89350	0.49762	D	AEFBI	.	.	.	.	.	.	.	.	.	0.012641970244775	0.12355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	1.82	0.24209	2.048000	0.40903	0.248000	0.16392	0.599000	0.40250	0.987000	0.36337	0.006000	0.19429	0.028000	0.12845	0.4708:0.4425:0.0:0.0867	6.515	0.21439	611	0.66908	.	.	.	.	.	.	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	0.002082	0.006944	0.000000	0.000000	0.000000	0.000000	0.004566	0.005263	0.1	2095.12	55	chrX	50910985	.	C	T	2095.12	.	AC=2;AF=0.1;AN=20;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.36;SOR=0.844	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2118,207,0	9	1	0	0
chrX	54198365	54198365	A	G	exonic	WNK3	.	nonsynonymous SNV	WNK3:NM_001002838:exon23:c.T5191C:p.S1731P,WNK3:NM_020922:exon24:c.T5362C:p.S1788P	.	.	.	.	.	.	.	.	.	.	.	3352884	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00131764900483	.	.	4.038e-05	0	0	0	0	7.259e-05	0	0	2.59e-05	4	154602	rs782784534	3.196e-05	3.187e-05	2.996e-05	3.604e-05	0.0022	2.32e-05	2.053e-05	0.0011	0.0009	0.0002	0.0001	0	0	0	0.0022	1.904e-05	2.175e-05	1.876e-05	8.948e-05	8.706e-05	7.71e-05	0.0001	0.0001	4.814e-05	3.688e-05	6.154e-05	4.302e-05	3.25e-05	0	9.54e-05	0	0	0	0	0.0001	0.0007	0	1.0	0.00964	T	0.186	0.28860	T	0.0	0.02946	B	0.001	0.04355	B	0.318723	0.14308	N	0.638947	0.99141	0.24037	N	-0.455	0.02793	N	1.79	0.25509	T	1.24	0.01024	N	0.09	0.18376	-1.0063	0.28065	T	0.022	0.09147	T	10	0.028395921	0.00972	T	0.001318	0.01860	T	0.070	0.20419	0.037	0.00022	0.043077524339	0.03247	0.17727445779099443	0.17646	0.266795107304	0.29218	0.310416817665	0.11970	T	0.051767	0.28972	T	-0.664821	0.00059	T	-0.967044	0.00213	T	0.430793076753616	0.30090	T	0.49565	0.15376	T	0.06103195	0.12592	0.10125964	0.24237	0.06103195	0.12592	0.10125964	0.24236	-3.64	0.19052	T	.	.	0.057	0.00553	B	.;.;.;.	.;.;.;.	0.677317	0.10460	7.176	0.88140520019254942	0.17747	0.11983	0.16986	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00460755504829235	0.10636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	-0.464	0.11553	-0.033000	0.12196	0.563000	0.19530	-0.137000	0.12594	0.978000	0.35038	0.937000	0.28687	0.993000	0.69303	0.2922:0.1357:0.2926:0.2796	0.332	0.00298	6	0.99319	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1	1523.12	34	chrX	54198365	.	A	G	1523.12	.	AC=2;AF=0.1;AN=20;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.73;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1546,144,0	9	1	0	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6	158397.0	692	chrX	55146104	.	G	A	158397.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.32;DP=6323;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6653;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.85;ReadPosRankSum=0.287;SOR=0.699	GT:AD:DP:GQ:PL	0/1:75,525:600:99:15469,0,444	0	2	8	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	134143.0	565	chrX	55146212	.	C	T	134143.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=2.02;DP=5292;ExcessHet=15.1594;FS=0.71;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=1.7;SOR=0.564	GT:AD:DP:GQ:PL	0/1:63,421:484:99:12196,0,505	0	1	9	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	71226.0	403	chrX	55146254	.	T	C	71226.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.498;DP=3799;ExcessHet=15.1594;FS=1.854;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-1.02;SOR=0.524	GT:AD:DP:GQ:PL	0/1:78,243:321:99:6967,0,1875	0	1	9	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.55	71590.0	324	chrX	55146275	.	T	G	71590.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.041;DP=2982;ExcessHet=15.1594;FS=7.491;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=25.64;ReadPosRankSum=-3.645;SOR=0.437	GT:AD:DP:GQ:PL	0/1:49,205:254:99:7004,0,850	0	1	9	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	10330.0	270	chrX	55146283	.	C	T	10330.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.191;DP=2533;ExcessHet=7.0302;FS=1.237;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=-0.86;SOR=0.773	GT:AD:DP:GQ:PL	0/1:135,88:223:99:2226,0,4280	3	0	7	0
chrX	57594011	57594011	T	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.T1963A:p.S655T	.	461	1006	39	16	0	71	0.0340855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	.	0.00476821	0.0102	0.0005	0.0021	0	0.0026	0.0124	0.0074	0.0266	0.000414	64	154602	rs200727091	0.0080	0.0079	0.0076	0.0088	0.0217	0.0078	0.0078	0.0179	0.0175	0.0012	0.0022	0.0024	3.422e-05	0.0024	0.0217	0.0084	0.0071	0.0189	0.0054	0.0055	0.0056	0.0045	0.0154	0.0050	0.0048	0.0110	0.0095	0.0009	0	0.0033	0.0020	0	0.0023	0.0051	0.0087	0.0056	0.0154	0.072	0.34982	T	0.259	0.23097	T	0.982	0.60036	D	0.952	0.69102	D	0.000935	0.41028	D	0.214546	0.645411	0.32914	D	2.69	0.78713	M	2.89	0.10196	T	-1.29	0.32387	N	0.057	0.02861	-1.0177	0.24463	T	0.056	0.23450	T	10	0.003385067	0.00059	T	.	.	.	0.068	0.19811	.	.	0.271610670623	0.26767	0.13645945271760762	0.13569	1.06917988701	0.76748	0.664134502411	0.62000	T	0.015966	0.13288	T	-0.689409	0.00042	T	-0.750091	0.03482	T	0.0196635630188806	0.00669	T	0.638236	0.25169	T	0.16438235	0.36641	0.20183867	0.44182	0.16438235	0.36641	0.20183867	0.44181	-3.943	0.22948	T	.	.	0.070	0.03552	B	.	.	1.238939	0.16346	12.48	0.96316169248732064	0.29397	0.43791	0.27176	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999977116689479	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77	3.77	0.42499	0.791000	0.26577	0.064000	0.14171	0.605000	0.46263	0.664000	0.28295	0.001000	0.17328	0.330000	0.25202	0.0:0.0:0.0:1.0	9.871	0.40341	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.022149	0.021277	0.020952	0.005988	0.000000	0.000000	0.043243	0.029940	0.15	1842.43	42	chrX	57594011	.	T	A	1842.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.275;DP=293;ExcessHet=0;FS=0.928;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=29.64;MQRankSum=0.435;QD=20.7;ReadPosRankSum=1.45;SOR=0.559	GT:AD:DP:GQ:PL	1/1:1,33:34:70:1050,70,0	8	1	1	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.25	632.51	118	chrX	74591813	.	G	A	632.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.041;DP=664;ExcessHet=2.8389;FS=0.949;InbreedingCoeff=-0.3742;MLEAC=5;MLEAF=0.25;MQ=58.42;MQRankSum=-6.076;QD=1.81;ReadPosRankSum=-2.665;SOR=0.746	GT:AD:DP:GQ:PL	0/1:53,11:64:99:150,0,1701	5	0	5	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4	6265.98	352	chrX	74591904	.	A	G	6265.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.776;DP=1908;ExcessHet=10.3881;FS=2.691;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.48;MQRankSum=-11.5;QD=3.42;ReadPosRankSum=3.83;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,50:187:99:0|1:74591902_T_A:1687,0,5582:74591902	2	0	8	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.3	3679.98	394	chrX	74591957	.	C	T	3679.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.459;DP=1750;ExcessHet=4.5998;FS=3.02;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=58.76;MQRankSum=-13.15;QD=2.3;ReadPosRankSum=-2.776;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,42:206:99:0|1:74591902_T_A:1270,0,6740:74591902	4	0	6	0
chrX	80704743	80704743	A	G	exonic	BRWD3	.	nonsynonymous SNV	BRWD3:NM_153252:exon23:c.T2656C:p.S886P	Mental retardation, X-linked 93, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1859655	Inborn_genetic_diseases|Intellectual_disability,_X-linked_93	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010393,MedGen:C1970841,OMIM:300659	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.389	0.1382621176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302507238	1.002e-05	1.002e-05	6.807e-06	1.653e-05	0.0005	5.38e-06	3.93e-06	8.518e-05	3.547e-05	0	0	0	0	0	0.0005	9.506e-06	0	1.848e-05	1.784e-05	1.742e-05	2.571e-05	0	3.759e-05	2.96e-06	1.11e-06	6.23e-06	2.33e-06	0	0	0	0	0	0	0	3.759e-05	0	0	0.085	0.32769	T	0.032	0.53426	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.005	0.85968	M	0.19	0.60236	T	-3.27	0.65512	D	0.573	0.59563	-0.5300	0.67541	T	0.304	0.67529	T	9	0.63860476	0.68926	D	0.138262	0.82076	D	0.389	0.70521	0.193	0.10437	0.846378076208	0.84490	0.5157468198618969	0.51497	2.26358370421	0.96201	0.598690986633	0.52719	T	0.27365	0.64611	T	0.145286	0.68826	D	-0.0290827	0.68430	D	0.888039668609059	0.53859	D	0.857114	0.54640	D	0.7886466	0.83189	0.7017698	0.82425	0.7886466	0.83190	0.7017698	0.82426	-9.308	0.69657	D	0.21831460123370247	0.29395	0.470	0.63162	A	.	.	4.254794	0.64612	24.7	0.99830148092842197	0.91198	0.98166	0.80172	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999885004579819	0.44867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.48	4.48	0.53973	8.718000	0.91150	11.080000	0.85733	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	13.223	0.59329	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2100.12	34	chrX	80704743	.	A	G	2100.12	.	AC=2;AF=0.1;AN=20;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.27;SOR=0.772	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2123,230,0	9	1	0	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	238.93	40	chrX	91436668	.	G	A	238.93	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.083;DP=730;ExcessHet=0.7463;FS=172.257;InbreedingCoeff=-0.1901;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.879;SOR=9.419	GT:AD:DP:GQ:PL	0/1:75,17:92:49:49,0,1441	7	0	3	0
chrX	115124004	115124004	-	A	splicing	LRCH2	NM_001243963:exon16:c.1741-2->T;NM_020871:exon17:c.1792-2->T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.78e-05	0.0008	0	0	0	0	0	0	0.0003074	8	26028	rs782624065	0.0004	0.0017	0.0005	5.92e-05	0.0009	0.0004	0.0003	0.0004	0.0003	0.0006	0.0005	0.0005	0.0003	6.009e-05	0.0009	0.0004	0.0004	0.0002	0.0002	0.0001	0.0002	6.078e-05	0.0004	9.767e-05	8.05e-05	0.0002	0.0001	0.0003	0	0.0004	0	0	0	0	5.706e-05	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	32.12	16	chrX	115124004	.	T	TA	32.12	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0;DP=47;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=6.42;ReadPosRankSum=-1.645;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:42:42,0,71	7	0	1	2
chrX	115190343	115190343	G	A	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G902A:p.R301Q	.	436	1072	8	6	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00555910250286	.	0.000529801	0.0017	0	0	0	0	0.0004	0	0.0081	0.0003493	54	154602	rs782148400	0.0006	0.0006	0.0005	0.0008	0.0058	0.0006	0.0005	0.0053	0.0051	4.057e-05	3.71e-05	0	0	0	0.0030	0.0004	0.0006	0.0058	0.0003	0.0003	0.0003	0.0004	0.0034	0.0003	0.0002	0.0017	0.0013	6.425e-05	0	0.0003	0	0	0	0.0092	0.0004	0.0007	0.0034	0.001	0.78490	D	0.009	0.66756	D	0.961	0.55431	D	0.056	0.26147	B	.	.	.	.	0.999993	0.58761	D	0.345	0.11182	N	3.31	0.06291	T	-2.14	0.48523	N	0.08	0.05542	-0.9108	0.46756	T	0.011	0.04088	T	8	0.0052516162	0.00115	T	0.005559	0.14349	T	0.127	0.34888	.	.	0.0806252709748	0.07271	0.02179087180370503	0.02131	.	.	0.323629528284	0.13971	T	0.219223	0.58217	T	-0.691757	0.00041	T	-0.763826	0.02977	T	0.122868388725934	0.14708	T	0.651035	0.26183	T	0.1228379	0.28857	0.21272378	0.45753	0.1228379	0.28857	0.21272378	0.45752	-4.448	0.30203	T	.	.	0.196	0.41753	B	.	.	2.253689	0.28792	17.91	0.97920023763002328	0.36879	0.33780	0.24911	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.390695504827626	0.20044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.869	0.18233	3.148000	0.50343	3.062000	0.36164	-0.574000	0.04772	1.000000	0.71638	0.214000	0.23665	0.005000	0.06747	.	.	.	937	0.14592	.	.	.	.	.	.	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	0.001160	0.000000	0.000000	0.000000	0.000000	0.031250	0.000000	0.000000	0.1	3319.12	120	chrX	115190343	.	G	A	3319.12	.	AC=2;AF=0.1;AN=20;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.31;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3342,318,0	9	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	353.72	80	chrX	135580144	.	G	C	353.72	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.669;DP=603;ExcessHet=10.3881;FS=244.206;InbreedingCoeff=-0.6585;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=-0.147;SOR=10.741	GT:AD:DP:GQ:PL	0/1:27,19:51:59:59,0,347	2	0	8	0
chrX	141905868	141905868	T	C	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.T464C:p.F155S	.	423	1074	10	6	9	31	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.0013245	0.0037	0.0006	0.0010	0	0	0.0040	0.0079	0.0105	0.0020116	311	154602	rs139443648	0.0024	0.0024	0.0023	0.0025	0.0142	0.0023	0.0023	0.0113	0.0102	0.0002	0.0021	0.0020	0	5.074e-05	0.0142	0.0023	0.0027	0.0065	0.0022	0.0022	0.0021	0.0022	0.0062	0.0019	0.0019	0.0046	0.0042	0.0003	0	0.0058	0.0023	0	0	0.0047	0.0027	0.0039	0.0062	0.329	0.13175	T	0.545	0.09588	T	0.012	0.16265	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.07	0.03033	T	-0.66	0.19085	N	0.041	0.01421	-0.8946	0.48521	T	0.005	0.01761	T	8	0.006348878	0.00143	T	.	.	.	0.023	0.04649	.	.	0.0401082797425	0.02173	0.01917039542671657	0.01871	.	.	0.492900371552	0.37841	T	0.004114	0.03522	T	-0.81659	0.00006	T	-0.942583	0.00286	T	0.00239010341465473	0.00025	T	0.230377	0.03106	T	0.084212095	0.19481	0.12148678	0.29312	0.084212095	0.19480	0.12148678	0.29311	-6.287	0.48619	T	.	.	0.806	0.77589	P	.	.	0.291508	0.06680	3.180	0.28806100477940155	0.01497	0.00185	0.01079	N	AEFBCI	.	.	.	.	.	.	.	.	.	9.22317778584206E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.895000	0.04226	.	.	-3.646000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3347:0.0:0.6653	3.636	0.07689	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.009682	0.013793	0.005566	0.003953	0.000000	0.011765	0.008850	0.026316	0.2222	8657.98	35	chrX	141905868	.	T	C	8657.98	.	AC=4;AF=0.222;AN=18;DP=923;ExcessHet=0;FS=0;InbreedingCoeff=0.8566;MLEAC=4;MLEAF=0.222;MQ=59.94;QD=32.31;SOR=1.016	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3228,294,0	7	2	0	1