Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES966	WT	HH	HZ	NC
chr1	1495701	1495701	T	-	exonic	ATAD3B	.	frameshift deletion	ATAD3B:NM_001317238:exon14:c.1693delT:p.C565Afs*109	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	.	0.0064	0.0013	0.0032	0.0001	0.0040	0.0103	0.0023	0.0008	7.68e-05	2	26028	rs776634721	0.0001	0.0034	9.739e-05	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	8.966e-05	0.0001	0	0	0.0002	0.0003	0.0001	0.0001	3.483e-05	1.975e-05	0.0002	1.287e-05	2.697e-05	4.425e-05	5.25e-06	2.46e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.425e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	230.94	146	chr1	1495700	.	CT	C	230.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.737;DP=1539;ExcessHet=0.0000;FS=12.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.29;MQRankSum=-6.333e+00;QD=1.31;ReadPosRankSum=-3.126e+00;SOR=2.049	GT:AD:DP:GQ:PL	0/1:156,20:176:99:245,0,5666	20	0	1	0
chr1	2030193	2030193	G	A	exonic	GABRD	.	nonsynonymous SNV	GABRD:NM_000815:exon9:c.G1270A:p.A424T,	.	.	.	.	.	.	.	.	.	.	.	1022880	Idiopathic_generalized_epilepsy	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.99	D	0.000	D	1.000	D	1.33	L	-1.77	D	-0.061	T	0.582	D	0.682	2.297	13.64	3.82	2.145	6.186	15.254	0.621	0.271653736768	.	.	1.842e-05	0	8.758e-05	0	0	1.628e-05	0	0	1.29e-05	2	154602	rs770260377	7.797e-06	1.915e-05	7e-06	8.615e-06	3.769e-05	4.18e-06	3.06e-06	1.001e-05	4.78e-06	0	2.716e-05	0	0	0	0	4.604e-06	3.445e-05	3.769e-05	1.314e-05	1.313e-05	0	2.689e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.436	0.09374	T	0.28	0.21678	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.235	0.30780	L	-1.77	0.83660	D	-0.39	0.13611	N	0.828	0.82358	-0.0610	0.80972	T	0.582	0.84955	D	10	0.79441845	0.78942	D	0.271654	0.89901	D	0.621	0.85301	0.75	0.88071	0.746807876849	0.74452	0.8303007817017545	0.82989	1.79650626074	0.91588	0.819943666458	0.85018	D	0.138871	0.47260	T	0.168353	0.70970	D	0.00405094	0.70598	D	0.816108345985413	0.47485	D	0.944206	0.78893	D	0.13197465	0.30745	0.1482831	0.35057	0.13197465	0.30745	0.1482831	0.35056	-3.712	0.19496	T	.	.	0.412	0.60254	A	.;.;.;.	.;.;.;.	4.600588	0.72864	25.9	0.99215446540077101	0.55716	0.98186	0.80350	D	AEFDBI	0.549762	0.56251	D	0.425907512335916	0.62850	4.508032	0.396956214890564	0.61376	4.336948	0.999999982267493	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.82	3.82	0.43153	6.496000	0.73577	11.424000	0.92722	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	15.254	0.73267	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1079.98	47	chr1	2030193	.	G	A	1079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.096;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=1.66;SOR=0.690	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1094,0,1392	20	0	1	0
chr1	6820184	6820184	G	A	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001195563:exon2:c.G49A:p.V17I	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	2805606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.192	B	0.022	B	0.008	N	1.000	N	0	N	2.09	T	-1.034	T	0.025	T	0.291	3.488	17.84	4.14	2.826	3.752	11.050	0.063	0.00328698606741	.	0.000199681	0.0002	0	0	0	0	3.008e-05	0	0.0012	0.0001423	22	154602	rs572304401	7.653e-05	8.078e-05	3.615e-05	0.0001	0.0012	6.453e-05	6.015e-05	0.0010	0.0009	0	0	0	5.079e-05	0	0	2.879e-06	5.192e-05	0.0012	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.072	0.37966	T	0.539	0.09795	T	0.192	0.29441	B	0.022	0.19653	B	0.008287	0.30918	N	0.123969	1	0.81001	D	0.345	0.11182	N	2.09	0.20122	T	-0.25	0.13418	N	0.366	0.47949	-1.0342	0.19109	T	0.025	0.10598	T	10	0.0333502	0.01509	T	0.003287	0.07298	T	0.063	0.18251	0.534	0.64293	0.426039362998	0.42221	0.05453653266779943	0.05395	0.441369322318	0.44128	0.850745916367	0.89727	D	0.008484	0.07792	T	-0.459917	0.00984	T	-0.473948	0.25091	T	0.110497826783548	0.13475	T	0.541546	0.18382	T	0.09704334	0.22868	0.049433563	0.07554	0.09704334	0.22867	0.049433563	0.07553	-3.648	0.18553	T	.	.	0.113	0.28693	B	.;.;.	.;.;.	4.754937	0.76815	26.6	0.99871973850192419	0.94989	0.87127	0.46574	D	AEFBI	0.497584	0.53205	N	-0.0853488829304547	0.38035	2.221567	0.118436853907567	0.45493	2.811406	0.999744434348866	0.42466	0.741868	0.97996	0	0.658105	0.61773	0	0.709663	0.75317	0	0.662026	0.63922	0	.	.	5.12	4.14	0.47821	3.776000	0.55063	11.050000	0.85287	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1874:0.8126:0.0	11.050	0.47100	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3391.66	33	chr1	6820184	.	G	A	3391.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.55;DP=824;ExcessHet=0.0000;FS=1.353;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.07;ReadPosRankSum=-4.540e-01;SOR=0.560	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2246,225,0	19	1	1	0
chr1	7738307	7738307	C	T	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349613:exon6:c.C1136T:p.T379I	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	0	1497	25	0	0	25	0.00828089	.	.	707518	Cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities|not_provided|not_specified	MONDO:MONDO:0013886,MedGen:C3553661,OMIM:614756,Orphanet:314647|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.179	B	0.052	B	0.005	N	1.000	N	1.1	L	2.1	T	-1.067	T	0.031	T	0.495	1.666	11.53	4.92	2.424	5.450	13.881	0.075	0.00558675282987	0.0009	0.00299521	0.0022	0.0004	0.0019	0.0002	0	0.0013	0.0078	0.0090	0.002044	316	154602	rs137974312	0.0014	0.0014	0.0011	0.0016	0.0144	0.0013	0.0013	0.0119	0.0110	0.0011	0.0020	0.0075	2.519e-05	3.747e-05	0.0144	0.0006	0.0030	0.0083	0.0014	0.0014	0.0013	0.0016	0.0104	0.0013	0.0012	0.0081	0.0073	0.0002	0.0044	0.0038	0.0069	0.0002	0	0.0034	0.0010	0.0019	0.0104	0.221	0.18889	T	0.3	0.20357	T	0.018	0.17786	B	0.023	0.19966	B	0.004685	0.33486	N	0.322239	0.987063	0.24555	N	0.805	0.20218	L	2.1	0.19990	T	-1.33	0.33197	N	0.499	0.53181	-1.0668	0.10131	T	0.031	0.13155	T	10	0.007980347	0.00181	T	0.005587	0.14439	T	0.075	0.21907	.	.	0.320526991862	0.31653	0.37032601794867054	0.36946	0.55727763093	0.52347	0.660529732704	0.61485	T	0.036333	0.24062	T	-0.467838	0.00877	T	-0.439526	0.28862	T	0.0205212488533104	0.00752	T	0.881912	0.60169	D	0.12119001	0.28504	0.106918946	0.25732	0.12787433	0.29911	0.123086214	0.29683	-4.006	0.23893	T	.	.	0.173	0.37932	B	.	.	3.150100	0.42638	21.6	0.99226296546530712	0.56057	0.97515	0.75251	D	AEFDBI	0.328349	0.42904	N	0.0393208996235288	0.43653	2.653999	0.211358055926675	0.50477	3.239326	0.692290302099544	0.22602	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.92	4.92	0.64147	1.526000	0.35570	7.623000	0.62394	0.599000	0.40250	0.956000	0.33378	1.000000	0.68203	1.000000	0.97212	0.0:0.9238:0.0:0.0761	13.881	0.63185	787	0.46738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5613.08	34	chr1	7738307	.	C	T	5613.08	.	AC=2;AF=0.048;AN=42;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.26;SOR=1.005	GT:AD:DP:GQ:PL	1/1:0,174:174:99:5641,522,0	20	1	0	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.001	B	0.031	N	1.000	N	0.46	N	3.34	T	-0.965	T	0.008	T	0.041	-0.002	4.003	-6.6	-1.007	-4.202	1.562	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2778	864.06	40	chr1	7933282	.	T	C	864.06	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.070e-01;DP=693;ExcessHet=6.5132;FS=112.254;InbreedingCoeff=-0.4232;MLEAC=12;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=2.69;ReadPosRankSum=0.238;SOR=9.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,14:34:99:.:.:217,0,349	8	0	10	3
chr1	10149228	10149228	C	T	exonic	UBE4B	.	nonsynonymous SNV	UBE4B:NM_006048:exon19:c.C2249T:p.A750V	.	.	.	.	.	.	.	.	.	.	.	3491093	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.993	D	0.588	P	0.000	D	1.000	D	1.4	L	1.02	T	-1.058	T	0.137	T	0.614	4.565	24.7	5.92	2.810	7.487	20.33	0.180	0.0162647818984	.	.	3.301e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs770338844	1.371e-05	1.642e-05	6.821e-06	2.068e-05	0.0002	8.96e-06	7.28e-06	8.986e-05	7.131e-05	0	0	0	0	0	0	4.5e-06	3.322e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.073	0.46632	T	0.023	0.65571	B	0.008	0.50402	B	0.000000	0.84330	D	0.047423	1	0.81001	D	1.21	0.30464	L	1.02	0.40749	T	-3.14	0.64246	D	0.555	0.59393	-1.0585	0.12134	T	0.137	0.45299	T	10	0.2749036	0.45046	T	0.016265	0.37444	T	0.180	0.45073	0.644	0.78117	0.250512400709	0.24649	0.6003334435658738	0.59964	1.46357261784	0.86400	0.561512112617	0.47481	T	0.398721	0.75675	T	-0.171217	0.25050	T	-0.21929	0.52805	T	0.840295970439911	0.49351	D	0.973803	0.91380	D	0.32284716	0.54879	0.32273307	0.58210	0.32284716	0.54879	0.32273307	0.58210	-5.023	0.37590	T	.	.	0.329	0.55180	B	.;.	.;.	5.090607	0.85006	28.5	0.99841570171178107	0.92229	0.98221	0.80666	D	AEFBI	0.885401	0.81589	D	0.269483307935106	0.54608	3.626056	0.435573614086443	0.63795	4.62061	0.999999999990639	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	7.568000	0.81546	7.603000	0.61629	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.33	0.98713	505	0.75648	.;Ubiquitin conjugation factor E4, core	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1772.98	33	chr1	10149228	.	C	T	1772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.866;DP=843;ExcessHet=0.0000;FS=6.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.248;SOR=0.564	GT:AD:DP:GQ:PL	0/1:65,72:137:99:1787,0,1472	20	0	1	0
chr1	10653973	10653973	C	T	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon11:c.G2084A:p.R695Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.991	D	0.000	D	1.000	D	1.1	L	.	.	-0.584	T	0.298	T	0.652	5.418	35	4.84	2.619	7.378	18.842	0.164	0.00359546806377	.	.	1.657e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs745664959	1.437e-05	1.436e-05	8.169e-06	2.063e-05	0.0002	9.23e-06	7.84e-06	0.0001	9.451e-05	2.987e-05	0	0	0	0	0.0002	8.994e-07	3.313e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	7.279e-05	3.025e-05	2.413e-05	0	0	0	0	0	0	0	0	0.0004	0.124	0.34800	T	0.009	0.66756	D	0.998	0.73220	D	0.991	0.79672	D	0.000002	0.62929	D	0.056733	0.999834	0.49637	D	0.41	0.12415	N	.	.	.	-0.96	0.27669	N	0.78	0.77695	-0.5844	0.65443	T	0.298	0.66896	T	9	0.53703505	0.63506	D	0.003595	0.08216	T	0.164	0.42212	0.244	0.17830	0.284112513307	0.28011	0.7194710281258782	0.71890	.	.	0.674207568169	0.63438	T	0.205879	0.56507	T	-0.0783636	0.39981	T	-0.0906613	0.64112	T	0.796608686447144	0.46124	D	0.981135	0.93511	D	0.24126293	0.47039	0.15850842	0.37011	0.24126293	0.47039	0.15850842	0.37011	-13.863	0.93140	D	.	.	0.653	0.71043	P	.;.	.;.	5.160641	0.86467	28.9	0.99945460876853609	0.99886	0.97793	0.77174	D	AEFDBHCI	0.909919	0.86716	D	0.629771159484221	0.75066	6.240699	0.644124000954704	0.78176	6.823482	1.0	0.98316	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.84	4.84	0.62125	5.714000	0.68074	7.601000	0.61564	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:1.0:0.0:0.0	18.842	0.92156	790	0.46189	Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1618.98	65	chr1	10653973	.	C	T	1618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1145;ExcessHet=0.0000;FS=1.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=1.56;SOR=0.929	GT:AD:DP:GQ:PL	0/1:43,58:101:99:1633,0,1099	20	0	1	0
chr1	12777268	12777268	G	A	exonic	PRAMEF12	.	nonsynonymous SNV	PRAMEF12:NM_001080830:exon3:c.G1121A:p.R374H,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.37	B	0.059	B	0.678	N	1.000	N	0.47	N	2.97	T	-0.975	T	0.015	T	0.025	1.072	9.379	-5.07	-1.230	-0.418	10.483	0.060	.	0.0002	0.00778754	0.0036	9.61e-05	0.0002	0.0001	0	0.0002	0.0011	0.0253	0.0031953	494	154602	rs200147207	0.0015	0.0015	0.0009	0.0022	0.0225	0.0015	0.0014	0.0217	0.0214	2.992e-05	0.0001	0	2.519e-05	0	0.0007	0.0001	0.0019	0.0225	0.0008	0.0009	0.0006	0.0011	0.0234	0.0007	0.0007	0.0199	0.0186	4.814e-05	0	0.0001	0	0.0002	0	0.0034	0.0001	0.0005	0.0234	0.566	0.06262	T	0.401	0.14961	T	0.37	0.34076	B	0.059	0.26602	B	0.678136	0.06076	N	1.164400	0.999688	0.20694	N	0.865	0.21413	L	2.97	0.09450	T	-1.57	0.37955	N	0.022	0.00372	-0.9753	0.36059	T	0.015	0.05946	T	10	0.008863747	0.00201	T	.	.	.	0.060	0.17295	.	.	0.0920862733494	0.08535	0.1834787494898176	0.18266	0.0334400944667	0.03497	0.207179114223	0.00697	T	0.003979	0.03393	T	-0.77426	0.00012	T	-0.866694	0.00774	T	0.0104976695965112	0.00145	T	0.608239	0.22965	T	0.025568908	0.01510	0.049385864	0.07536	0.025568908	0.01510	0.049385864	0.07535	-4.995	0.36786	T	.	.	0.085	0.10062	B	.	.	0.320703	0.06954	3.500	0.80431122992526194	0.13200	0.01878	0.05780	N	AEFBI	0.021757	0.01005	N	-1.20391572644976	0.04942	0.2241708	-1.32423841560855	0.04119	0.1936109	4.2027368328228E-4	0.06899	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.72	-5.07	0.02717	-1.075000	0.03534	-20.000000	0.00162	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.171000	0.21011	0.2543:0.0:0.7457:0.0	10.483	0.43889	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	0.02381	3821.98	34	chr1	12777268	.	G	A	3821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.349;DP=1273;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.69;MQRankSum=0.131;QD=14.70;ReadPosRankSum=0.244;SOR=0.699	GT:AD:DP:GQ:PL	0/1:118,142:260:99:3836,0,2986	20	0	1	0
chr1	12828688	12828688	G	-	exonic	PRAMEF11	.	frameshift deletion	PRAMEF11:NM_001146344:exon2:c.102delC:p.T35Qfs*20,	.	.	427	1077	16	2	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0010	0	0	0	0	4.512e-05	0.0033	0.0073	0.0001921	5	26028	rs532778473	0.0005	0.0005	0.0003	0.0007	0.0072	0.0005	0.0004	0.0067	0.0065	0	2.243e-05	0	0	0	0.0030	3.693e-05	0.0006	0.0072	0.0002	0.0002	6.448e-05	0.0003	0.0053	0.0001	9.737e-05	0.0037	0.0031	0	0	0	0	0	0	0	0	0	0.0053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2232.94	34	chr1	12828687	.	TG	T	2232.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.284;DP=948;ExcessHet=0.0000;FS=3.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.94;MQRankSum=-1.629e+00;QD=13.29;ReadPosRankSum=0.504;SOR=0.656	GT:AD:DP:GQ:PL	0/1:90,78:168:99:2247,0,2700	20	0	1	0
chr1	13308405	13308405	C	T	exonic	PRAMEF33	.	stopgain	PRAMEF33:NM_001291381:exon4:c.C943T:p.Q315X,	.	.	627	870	20	5	0	30	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	.	.	.	.	.	.	.	.	0.0037268	97	26028	rs200530087	0.0031	0.0049	0.0026	0.0035	0.0138	0.0030	0.0030	0.0131	0.0128	0.0028	0.0025	0.0023	0.0005	0.0007	0.0070	0.0023	0.0037	0.0138	0.0020	0.0028	0.0022	0.0018	0.0038	0.0018	0.0017	0.0027	0.0024	0.0032	0	0.0038	0	0.0003	0.0006	0	0.0011	0.0053	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.573511	0.72187	25.8	0.54517735962146052	0.05154	0.00213	0.01210	N	AEFI	.	.	.	.	.	.	.	.	.	1.15806790253665E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0433295	0.02532	0.822	-0.603	0.11047	0.161000	0.16298	-4.620000	0.02066	-0.467000	0.05102	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.6908:0.0:0.3092	3.659	0.07767	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	149.98	20	chr1	13308405	.	C	T	149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.920e-01;DP=887;ExcessHet=0.0000;FS=1.274;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.37;MQRankSum=-2.133e+00;QD=2.88;ReadPosRankSum=-9.940e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/1:39,13:52:99:164,0,924	20	0	1	0
chr1	13319928	13319928	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.G850A:p.E284K,	.	.	425	1054	42	1	0	44	0.0204461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.129	B	0.024	B	0.939	N	1.000	N	.	.	0.88	T	-1.027	T	0.050	T	0.104	-0.196	3.047	-0.555	-0.187	-0.272	3.390	0.030	0.0182011696665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333390099	0.0071	0.0071	0.0059	0.0083	0.0404	0.0070	0.0069	0.0393	0.0388	0.0018	0.0216	0.0121	0.0117	0.0010	0.0214	0.0039	0.0083	0.0404	0.0057	0.0057	0.0052	0.0061	0.0386	0.0053	0.0052	0.0341	0.0323	0.0012	0	0.0130	0.0118	0.0110	0.0006	0.0272	0.0045	0.0057	0.0386	0.393	0.10730	T	0.449	0.12993	T	.	.	.	.	.	.	0.938865	0.07582	N	1.029020	1	0.08975	N	.	.	.	0.88	0.46028	T	-2.41	0.52938	N	0.173	0.18512	-0.9983	0.30395	T	0.075	0.30179	T	8	0.007114768	0.00162	T	0.001884	0.03299	T	.	.	.	.	.	.	0.3100785271206615	0.30920	.	.	0.656455397606	0.60903	T	.	.	.	-0.362263	0.04004	T	-0.758142	0.03179	T	0.0349611403695616	0.02802	T	0.256074	0.03980	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.29032	B	.	.	0.598594	0.09668	6.442	0.62318011989786293	0.06932	0.00198	0.01140	N	AEFI	0.024876	0.01611	N	-0.896977969004185	0.10913	0.523947	-1.12355754252348	0.07251	0.3520434	1.68618632731461E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-1.57	0.08055	-0.459000	0.06805	-20.000000	0.00162	-1.244000	0.01310	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.6127:0.0:0.3873:0.0	4.573	0.11612	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	6058.11	40	chr1	13319928	.	G	A	6058.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.21;DP=1983;ExcessHet=0.1072;FS=0.542;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=43.82;MQRankSum=2.54;QD=11.65;ReadPosRankSum=2.59;SOR=0.622	GT:AD:DP:GQ:PL	0/1:142,130:272:99:3168,0,3220	19	0	2	0
chr1	13370839	13370839	G	A	exonic	PRAMEF19	.	nonsynonymous SNV	PRAMEF19:NM_001099790:exon2:c.C676T:p.R226C,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.001	B	0.001	B	0.005	N	1.000	N	0	N	2.41	T	-1.012	T	0.018	T	0.156	0.056	4.305	1.18	0.954	-0.146	5.785	0.013	0.000920430990895	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412698391	1.847e-05	1.847e-05	1.089e-05	2.613e-05	0.0002	1.265e-05	1.084e-05	6.51e-05	4.757e-05	0	0	0	0.0002	0	0	8.095e-06	3.312e-05	0.0001	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005345	0.32875	N	0.284843	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0116	0.26416	T	0.018	0.07612	T	10	0.08485651	0.14265	T	0.001227	0.01633	T	0.036	0.09122	0.573	0.69695	0.043077524339	0.03247	0.2558817121020374	0.25502	.	.	0.584110200405	0.50664	T	0.022394	0.17275	T	-0.337451	0.05566	T	-0.722501	0.04675	T	0.0824585556983948	0.10300	T	0.423058	0.11286	T	0.07194118	0.15967	0.027022926	0.00826	0.07194118	0.15966	0.027022926	0.00825	-4.696	0.33355	T	.	.	0.107	0.20235	B	.	.	0.824056	0.11954	8.514	0.56715055676453197	0.05612	0.00490	0.02322	N	AEFI	0.033010	0.03838	N	-1.13759831770236	0.05987	0.2744006	-1.19324886474576	0.06022	0.2886346	2.36541888946178E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.18	1.18	0.20058	-0.144000	0.10263	-1.468000	0.05371	-1.227000	0.01331	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.785	0.17591	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2458.98	33	chr1	13370839	.	G	A	2458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=1133;ExcessHet=0.0000;FS=5.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-7.700e-02;SOR=0.500	GT:AD:DP:GQ:PL	0/1:94,88:182:99:2473,0,2423	20	0	1	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:867,104:971:99:.:.:428,0,34379	4	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:686,76:762:99:163,0,21725	1	0	20	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:562,167:729:99:3062,0,16448	1	0	20	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	.	.	.	.	.	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	0.1	1480.07	652	chr1	16569091	.	T	C	1480.07	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.204e+00;DP=5353;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=4;MLEAF=0.100;MQ=43.09;MQRankSum=-2.580e+00;QD=0.65;ReadPosRankSum=-4.830e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/1:489,73:562:99:293,0,11993	16	0	4	1
chr1	16569128	16569128	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	388	1111	23	0	0	23	0.010245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0074	0.0196	0.0046	0.0329	0	0.0016	0.0066	0.0151	0.0059702	923	154602	rs373437793	0.0003	0.0004	0.0002	0.0003	0.0014	0.0002	0.0002	0.0011	0.0010	0.0004	0.0014	0	0.0007	0	0.0006	0.0001	0.0002	0.0012	0.0001	0.0002	7.938e-05	0.0002	0.0002	7.076e-05	5.588e-05	6.669e-05	4.616e-05	0.0002	0	0.0001	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	95.98	609	chr1	16569128	.	G	A	95.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.800e-02;DP=4954;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.33;MQRankSum=0.513;QD=0.18;ReadPosRankSum=1.13;SOR=0.661	GT:AD:DP:GQ:PL	0/1:471,58:529:99:110,0,12124	20	0	1	0
chr1	16576398	16576398	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	374	1144	4	0	0	4	0.0017452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00460146896353	.	.	0.0001	0.0001	0	0	0	0.0002	0	0	0.0001294	20	154602	rs754233306	0.0006	0.0029	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0003	0	3.853e-05	0	3.758e-05	0.0002	0.0008	0.0004	0.0002	0.0003	0.0031	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0002	0	0	0	0	0.0005	0	0.0004	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.07811	.	.	.	.	.	.	.	0.042095393	0.02926	T	0.004601	0.11377	T	.	.	.	.	0.0401082797425	0.02173	0.013162272113823219	0.01274	.	.	0.603292107582	0.53368	T	.	.	.	-0.591865	0.00163	T	-1.08795	0.00035	T	.	.	.	0.518348	0.16810	T	.	.	.	.	.	.	.	.	-6.813	0.52656	T	.	.	0.096	0.15430	B	.;.	.;.	-0.671314	0.01388	0.080	0.6718075843736302	0.08278	0.00051	0.00397	N	AEFDBI	0.014487	0.00233	N	.	.	.	.	.	.	2.1729480399847E-4	0.05997	0.257697	0.04554	1	0.067947	0.01809	2	0.344576	0.05992	1	0.195515	0.04268	0	.	.	0.939	-1.88	0.07294	-0.792000	0.04700	-20.000000	0.00162	0.156000	0.17708	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.343:0.4024:0.0:0.2546	2.040	0.03332	443	0.79878	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	43.1	477	chr1	16576398	.	C	T	43.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.88;DP=7780;ExcessHet=0.1072;FS=2.016;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=35.42;MQRankSum=-4.070e-01;QD=0.06;ReadPosRankSum=1.47;SOR=1.053	GT:AD:DP:GQ:PL	0/1:295,33:328:38:38,0,9516	19	0	2	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	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	0.2381	6221.79	448	chr1	16577387	.	T	C	6221.79	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.96;DP=6360;ExcessHet=6.1002;FS=0.799;InbreedingCoeff=-0.3043;MLEAC=10;MLEAF=0.238;MQ=42.88;MQRankSum=-3.300e+00;QD=1.94;ReadPosRankSum=-6.470e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:222,34:256:99:.:.:279,0,6301	11	0	10	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1056,93,0	2	7	12	0
chr1	16961117	16961117	C	G	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon27:c.C4392G:p.D1464E,	.	.	446	1058	16	2	0	20	0.0093633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	1.04	T	-0.997	T	0.030	T	0.012	-0.741	0.844	-6.7	-1.655	-4.665	0.659	0.056	.	.	0.0145767	0.0964	0	0	0	.	0	0.2	0.1130	0.0020892	323	154602	rs370892836	0.0026	0.0029	0.0015	0.0038	0.0540	0.0025	0.0025	0.0523	0.0516	0.0003	0.0002	0	3.687e-05	7.125e-05	0.0018	0.0002	0.0037	0.0540	0.0018	0.0018	0.0010	0.0027	0.0539	0.0017	0.0016	0.0485	0.0464	0.0002	0	0.0002	0	0.0002	0.0002	0	5.891e-05	0.0005	0.0539	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.04	0.40218	T	0.53	0.02808	N	0.009	0.00081	-0.9969	0.30783	T	0.030	0.12935	T	9	0.0017902851	0.00023	T	.	.	.	0.056	0.15993	0.108	0.01928	.	.	0.07125673055866635	0.07062	0.450877344562	0.44848	0.6814468503	0.64476	T	.	.	.	-0.764804	0.00014	T	-0.841378	0.01078	T	0.0270888147373451	0.01557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11027	B	.	.	-2.208493	0.00063	0.001	0.33647280515608818	0.02015	0.00413	0.02050	N	ALL	0.033471	0.03976	N	-2.04926648805489	0.00165	0.00708564	-2.11192790071391	0.00176	0.007728248	0.999999999156064	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.504199	0.09095	0	0.665054	0.64577	0	.	.	3.71	-6.7	0.01602	-3.024000	0.00704	-6.667000	0.01337	-2.336000	0.00312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2357:0.3083:0.1224:0.3336	0.659	0.00786	846	0.36215	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.04762	456.14	12	chr1	16961117	.	C	G	456.14	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.128;DP=500;ExcessHet=0.1072;FS=1.177;InbreedingCoeff=-0.0513;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.136;SOR=0.990	GT:AD:DP:GQ:PL	0/1:12,13:25:99:282,0,249	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.000	D	1.000	D	2.495	M	-0.28	T	0.069	D	0.508	D	0.799	4.771	26.8	5.09	2.351	7.898	17.059	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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1924.98	41	chr1	18482857	.	G	C	1924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.914;DP=938;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-2.922e+00;SOR=0.701	GT:AD:DP:GQ:PL	0/1:78,74:152:99:1939,0,1993	20	0	1	0
chr1	18849511	18849511	C	T	exonic	TAS1R2	.	nonsynonymous SNV	TAS1R2:NM_152232:exon4:c.G1297A:p.D433N,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.064	B	0.031	B	0.741	N	0.998	N	-0.55	N	-1.64	D	-0.853	T	0.191	T	0.023	0.700	7.733	3.29	0.577	1.811	8.157	0.218	0.0338602246683	0.0034	0.00119808	0.0028	0.0005	0.0003	0	0.0079	0.0040	0.0011	0.0002	0.002749	425	154602	rs114026861	0.0035	0.0035	0.0036	0.0035	0.0041	0.0035	0.0034	0.0040	0.0039	0.0005	0.0008	0.0011	0	0.0066	0.0017	0.0041	0.0028	0.0005	0.0025	0.0025	0.0028	0.0021	0.0039	0.0023	0.0022	0.0036	0.0034	0.0006	0	0.0012	0	0	0.0049	0	0.0039	0.0038	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.064	0.23455	B	0.031	0.21939	B	0.741263	0.09774	N	0.866057	0.997701	0.22545	N	0.6	0.15550	N	-1.64	0.82533	D	2.13	0.00351	N	0.153	0.15749	-0.8528	0.51774	T	0.191	0.54272	T	10	0.00522393	0.00114	T	0.03386	0.55276	D	0.218	0.51265	.	.	0.36355261348	0.35965	0.30355471988022065	0.30268	0.14787748836	0.16680	0.285546183586	0.08277	T	0.052156	0.29082	T	-0.51547	0.00467	T	-0.511709	0.21139	T	0.0113985631558402	0.00170	T	0.69513	0.30474	T	0.07667786	0.17358	0.06899554	0.14481	0.07667786	0.17358	0.06899554	0.14481	-4.117	0.25540	T	.	.	0.084	0.09917	B	.	.	2.440896	0.31414	18.73	0.92888161504990185	0.22438	0.51186	0.28837	D	AEFBI	0.061413	0.11741	N	-0.525507612603662	0.21258	1.126823	-0.359510147621444	0.26216	1.446588	7.61123368472725E-5	0.04552	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.562822	0.20929	0	.	.	5.16	3.29	0.36801	2.086000	0.41268	4.633000	0.44124	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.780000	0.36908	0.0:0.8323:0.0:0.1677	8.157	0.30334	946	0.12043	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1592.98	33	chr1	18849511	.	C	T	1592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.687e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=-1.368e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/1:43,65:108:99:1607,0,1099	20	0	1	0
chr1	21865797	21865797	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon34:c.G4237A:p.G1413S	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	194067	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	N	1.000	D	3.46	M	0.56	T	0.085	D	0.444	T	0.874	3.852	19.57	4.96	2.579	4.285	15.726	0.538	0.0440045860523	7.7e-05	0.000399361	0.0001	0.0006	0	0	0	7.516e-05	0.0011	0.0003	0.0001294	20	154602	rs146184130	6.911e-05	6.909e-05	6.264e-05	7.565e-05	0.0006	5.781e-05	5.393e-05	0.0004	0.0003	0.0006	0	0	5.038e-05	1.884e-05	0.0005	4.497e-05	9.937e-05	0.0002	0.0001	0.0001	0.0002	0.0001	0.0005	8.664e-05	7.256e-05	0.0003	0.0002	0.0005	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001845	0.37840	N	0.000000	0.999993	0.58761	D	3.145	0.88303	M	0.56	0.54540	T	-5.3	0.84387	D	0.641	0.65330	0.085	0.83899	D	0.444	0.78100	T	10	0.5821164	0.65907	D	0.044005	0.61272	D	0.538	0.80664	.	.	0.544652427739	0.54119	0.6690304417805694	0.66841	0.283419385945	0.30787	0.549377143383	0.45769	T	0.39257	0.75220	T	0.0185044	0.54180	T	0.146288	0.79950	D	0.298339540131351	0.24935	T	0.777122	0.65471	T	0.74496347	0.80577	0.74197656	0.84748	0.74496347	0.80579	0.74197656	0.84749	-11.242	0.80968	D	.	.	0.376	0.58191	A	.;.	.;.	3.673083	0.52245	23.2	0.99846418238267398	0.92663	0.90287	0.51344	D	AEFGBHCI	0.692618	0.65222	D	0.668207086893226	0.77553	6.69662	0.538612069329181	0.70608	5.530407	0.999999999999991	0.74766	0.67177	0.52595	0	0.518115	0.08659	0	0.601644	0.32324	0	0.711	0.71501	0	.	.	4.96	4.96	0.65153	4.447000	0.59762	7.664000	0.64404	-0.230000	0.07744	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:1.0:0.0:0.0	15.726	0.77524	811	0.42639	Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1536.98	35	chr1	21865797	.	C	T	1536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.293;DP=864;ExcessHet=0.0000;FS=2.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=-1.153e+00;SOR=0.924	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1551,0,1549	20	0	1	0
chr1	22863072	22863072	G	C	exonic	EPHB2	.	nonsynonymous SNV	EPHB2:NM_001309192:exon4:c.G847C:p.D283H	.	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.863	P	0.000	D	1.000	D	2.645	M	2.33	T	1.023	D	0.928	D	0.55	3.778	19.18	4.97	2.582	6.520	10.542	0.634	0.297585107024	0.0002	0.000399361	0.0003	9.61e-05	0.0002	0	0	0.0003	0	0.0005	0.0002523	39	154602	rs142113032	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0003	0.0033	0.0028	5.974e-05	0.0003	0	0	1.872e-05	0.0047	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	4.811e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0008	0.003	0.68238	D	0.011	0.64786	D	0.907	0.50062	P	0.863	0.61398	P	0.000000	0.84330	D	0.000000	0.999867	0.50061	D	2.865	0.83145	M	-4.36	0.97538	D	-3.13	0.63901	D	0.265	0.30004	1.023	0.97584	D	0.928	0.97631	D	10	0.16462514	0.30793	T	0.297585	0.90774	D	0.634	0.85975	.	.	0.902570044861	0.90159	0.6393947624844962	0.63874	0.711923238635	0.61746	0.598686218262	0.52719	T	0.082436	0.56719	T	0.0301825	0.55749	T	0.133539	0.79124	D	0.11474635031325	0.13908	T	0.30317	0.06521	T	0.5821111	0.71723	0.569727	0.75087	0.5821111	0.71724	0.569727	0.75087	-13.397	0.90955	D	.	.	0.293	0.53936	B	.;.;.;.;.	.;.;.;.;.	4.712016	0.75714	26.4	0.99539149090040058	0.70398	0.97714	0.76605	D	AEFDBI	0.784575	0.71522	D	0.645503851374795	0.76078	6.420633	0.603275290510256	0.75179	6.264763	0.999985450061189	0.51787	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	6.831000	0.75116	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0888:0.0:0.9112:0.0	10.542	0.44228	588	0.69043	Tyrosine-protein kinase ephrin type A/B receptor-like|Tyrosine-protein kinase ephrin type A/B receptor-like;.;Tyrosine-protein kinase ephrin type A/B receptor-like|Tyrosine-protein kinase ephrin type A/B receptor-like;.;Tyrosine-protein kinase ephrin type A/B receptor-like|Tyrosine-protein kinase ephrin type A/B receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2949.11	33	chr1	22863072	.	G	C	2949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.130;DP=900;ExcessHet=0.1072;FS=1.600;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.93;SOR=0.812	GT:AD:DP:GQ:PL	0/1:58,78:136:99:1979,0,1440	19	0	2	0
chr1	22955369	22955369	G	A	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon7:c.C710T:p.A237V,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.502	T	0.273	T	.	2.217	13.37	5.4	2.519	7.491	14.667	0.179	0.050761660546	.	.	0.0003	0	0	0	0	0	0	0.0007	3.88e-05	6	154602	rs562795697	8.01e-05	7.798e-05	5.645e-05	0.0001	0.0007	6.786e-05	6.346e-05	0.0004	0.0004	3.165e-05	2.801e-05	0	0	0	0.0007	5.468e-05	5.173e-05	0.0006	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0004	8.14e-06	5.14e-06	7.299e-05	3.032e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.985	0.53793	M	0.99	0.41750	T	.	.	.	0.804	0.79986	.	.	.	.	.	.	.	0.32952905	0.50204	T	0.050762	0.64379	D	.	.	.	.	0.316788114976	0.31282	0.6964412038935782	0.69585	.	.	.	.	.	0.002851	0.02248	T	-0.184646	0.23047	T	-0.142213	0.59925	T	0.713110506534576	0.41353	D	0.920908	0.71352	D	0.18711556	0.40151	0.56453305	0.74797	0.18711556	0.40150	0.56453305	0.74798	-7.244	0.55796	T	.	.	0.312	0.53936	B	.;.	.;.	3.981646	0.58534	24.0	0.98683857765128635	0.44652	0.98301	0.81414	D	AEFDGBI	0.863545	0.78211	D	0.43383823508697	0.63292	4.560226	0.518297928741623	0.69223	5.329648	0.999998667886694	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.4	5.4	0.77957	7.638000	0.82478	9.595000	0.81054	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	14.667	0.68522	787	0.46738	Beta-lactamase-related;Beta-lactamase-related	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1072.98	33	chr1	22955369	.	G	A	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.650e-01;DP=783;ExcessHet=0.0000;FS=1.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-7.160e-01;SOR=0.896	GT:AD:DP:GQ:PL	0/1:53,42:95:99:1087,0,1436	20	0	1	0
chr1	23424632	23424632	A	T	exonic	TCEA3	.	startloss	TCEA3:NM_003196:exon1:c.T2A:p.M1?,	.	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	0.000	D	0.912	D	.	.	.	.	-0.204	T	0.351	T	0.687	3.825	19.42	3.51	1.607	6.882	9.828	0.696	0.246278617956	.	.	6.739e-05	0	0	0	0	4.589e-05	0	0.0003	5.17e-05	8	154602	rs751892470	3.233e-05	3.283e-05	2.054e-05	4.423e-05	0.0009	2.491e-05	2.233e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.071e-05	6.644e-05	0.0002	2.631e-05	2.626e-05	1.287e-05	4.034e-05	0.0002	8.15e-06	5.14e-06	4.89e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.944e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.911785	0.36430	D	.	.	.	.	.	.	-2.98	0.66206	D	0.935	0.94077	-0.2044	0.77557	T	0.351	0.71470	T	8	0.9227562	0.91627	D	0.246279	0.88921	D	0.696	0.89007	0.712	0.84781	0.645372302287	0.64243	0.6892709292112918	0.68867	.	.	.	.	.	0.273162	0.64560	T	-0.0300298	0.47412	T	0.0152801	0.71325	D	0.862555742263794	0.51285	D	.	.	.	0.9065788	0.91978	0.8683394	0.92751	0.9065788	0.91979	0.8683394	0.92752	-9.882	0.73202	D	.	.	.	.	.	.;.	.;.	4.430627	0.68699	25.3	0.98544503232285163	0.42757	0.91510	0.53682	D	AEFDBHCI	0.178004	0.30526	N	0.547797660283436	0.69948	5.430196	0.486544642037335	0.67097	5.038711	0.999999942505956	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.51	3.51	0.39297	5.283000	0.65426	10.750000	0.83676	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	9.828	0.40091	293	0.88320	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	738.98	33	chr1	23424632	.	A	T	738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.930e-01;DP=772;ExcessHet=0.0000;FS=2.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.381e+00;SOR=0.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,34:59:99:0|1:23424632_A_T:753,0,556:23424632	20	0	1	0
chr1	26184449	26184449	C	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon12:c.C1070A:p.P357Q	.	.	0	1493	29	0	0	29	0.00961857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.971	D	0.548	P	0.577	N	1.000	N	0.805	L	2.73	T	-1.000	T	0.001	T	0.27	1.732	11.75	2.92	1.442	0.305	7.822	0.029	.	.	0.0339457	0.0157	0.0002	0.0007	0.0674	0	0.0005	0.0261	0.0721	0.013137	2031	154602	rs2297710	0.0072	0.0072	0.0056	0.0088	0.1002	0.0070	0.0070	0.0976	0.0965	0.0004	0.0003	3.828e-05	0.1002	5.623e-05	0.0035	0.0005	0.0078	0.0632	0.0052	0.0053	0.0038	0.0066	0.0819	0.0049	0.0048	0.0754	0.0729	7.219e-05	0	0.0005	0	0.0819	9.414e-05	0.0034	0.0004	0.0047	0.0658	0.267	0.35165	T	0.404	0.15157	T	0.971	0.57185	D	0.548	0.49136	P	0.577300	0.11178	N	0.807701	1	0.08975	N	2.52	0.73523	M	2.73	0.11839	T	-1.57	0.38345	N	0.072	0.05670	-1.0001	0.29888	T	0.001	0.00318	T	10	0.0023334324	0.00034	T	.	.	.	0.029	0.06676	.	.	.	.	0.4508199315232557	0.44999	0.4776242743	0.46872	0.362264126539	0.19716	T	0.020519	0.16142	T	-0.567208	0.00230	T	-0.53648	0.18643	T	0.0334743172741431	0.02549	T	0.541546	0.18382	T	0.037506957	0.04821	0.050522495	0.07946	0.037506957	0.04821	0.050522495	0.07946	-4.702	0.33428	T	.	.	0.094	0.14293	B	.;.;.	.;.;.	1.860913	0.23640	16.09	0.72990578385387084	0.10168	0.05735	0.11661	N	AEFDBI	0.048965	0.08410	N	-0.363017886859758	0.26798	1.465253	-0.464974973711878	0.23125	1.259522	0.808690635076044	0.24316	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.92	2.92	0.32998	0.504000	0.22335	0.595000	0.19862	0.594000	0.32500	0.079000	0.22314	0.007000	0.19602	0.041000	0.14368	0.1613:0.749:0.0:0.0896	7.822	0.28456	414	0.81871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2235.11	38	chr1	26184449	.	C	A	2235.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.248e+00;DP=866;ExcessHet=0.1072;FS=2.043;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=1.95;SOR=0.896	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1214,0,1032	19	0	2	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,45,5:50:51:.:.:2227,199,51,1899,0,1872	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,5,20:56:99:0|1:26282334_TGGGGCCG_*:883,649,1925,0,1103,1229:26282334	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:35,5,20:60:99:0|1:26282334_TGGGGCCG_*:871,649,2093,0,1271,1397:26282334	8	0	0	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:35,0,20:60:99:0|1:26282334_TGGGGCCG_*:871,913,2371,0,1469,1397:26282334	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,5,36:62:99:0|1:26282278_C_T:1338,1220,2118,0,689,959:26282278	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,35,0:70:99:0|1:26282278_C_T:1263,0,1348,1379,1339,2723:26282278	1	1	5	4
chr1	27382622	27382622	T	C	exonic	CD164L2	.	nonsynonymous SNV	CD164L2:NM_001330448:exon2:c.A134G:p.N45S	.	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.848	P	0.016	N	0.919	N	1.6	L	1.04	T	-0.939	T	0.152	T	0.047	3.971	20.3	3.51	0.819	1.603	6.763	0.186	0.010628302748	0.0002	0.00119808	0.0008	9.942e-05	0.0002	0.0001	0	0.0004	0.0047	0.0034	0.0006598	102	154602	rs140169689	0.0004	0.0004	0.0003	0.0005	0.0094	0.0003	0.0003	0.0073	0.0065	0	0.0002	0	0	0	0.0094	0.0002	0.0009	0.0026	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	2.408e-05	0	0.0002	0	0	0	0	0.0003	0	0.0031	0.008	0.58626	D	0.26	0.23298	T	0.986	0.61523	D	0.848	0.60574	P	0.015669	0.28183	N	0.251109	0.919343	0.27330	N	2.285	0.65182	M	1.04	0.40218	T	-0.27	0.11366	N	0.26	0.29429	-0.9393	0.42727	T	0.152	0.48135	T	10	0.011585534	0.00253	T	0.010628	0.27388	T	0.186	0.46104	.	.	0.545611132464	0.54216	0.2765596639845557	0.27568	0.147450757284	0.16638	0.516688346863	0.41160	T	0.004111	0.03522	T	-0.567833	0.00228	T	-0.59148	0.13538	T	0.0427860683289049	0.04198	T	0.822518	0.48242	T	0.06435776	0.13647	0.09246045	0.21791	0.06435776	0.13646	0.09246045	0.21790	-2.412	0.05207	T	.	.	0.131	0.28232	B	.;.	.;.	2.841763	0.37494	20.5	0.99801818508141793	0.88639	0.79222	0.39216	D	AEFBI	0.091932	0.18617	N	0.309072221702106	0.56613	3.826304	0.265049426994407	0.53511	3.519564	0.999609762953021	0.40866	0.676563	0.55306	0	0.547309	0.14657	0	0.673471	0.61138	0	0.542086	0.14980	0	.	.	4.64	3.51	0.39297	1.268000	0.32665	2.645000	0.33778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.1061:0.0:0.8939	6.763	0.22737	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1054.98	40	chr1	27382622	.	T	C	1054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=850;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=-7.410e-01;SOR=0.973	GT:AD:DP:GQ:PL	0/1:29,38:67:99:1069,0,669	20	0	1	0
chr1	29148778	29148778	-	GCTGCG	exonic	SRSF4	.	nonframeshift insertion	SRSF4:NM_005626:exon6:c.1116_1117insCGCAGC:p.S372_K373insRS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0008	0	8.807e-05	0	0	6.127e-05	0.0022	0.0054	0.0001921	5	26028	rs537977363	0.0004	0.0004	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	8.963e-05	6.71e-05	0	2.519e-05	1.881e-05	0.0003	8.725e-05	0.0003	0.0049	0.0002	0.0002	0.0002	0.0003	0.0054	0.0002	0.0002	0.0038	0.0032	9.636e-05	0	6.55e-05	0	0.0002	0	0	4.413e-05	0.0005	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.94	35	chr1	29148778	.	T	TGCTGCG	1161.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.780e-01;DP=876;ExcessHet=0.0000;FS=1.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=-1.941e+00;SOR=0.479	GT:AD:DP:GQ:PL	0/1:46,32:78:99:1176,0,1776	20	0	1	0
chr1	32695311	32695311	G	A	exonic	SYNC	.	nonsynonymous SNV	SYNC:NM_001161708:exon2:c.C787T:p.R263C	.	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.938	D	.	.	1.000	D	0.55	N	-2.4	D	0.264	D	0.584	D	0.623	4.475	23.9	4.48	2.235	3.229	16.539	0.598	0.087791703081	0.0022	0.00259585	0.0048	0.0014	0	0	0.0012	0.0039	0.0041	0.0081	0.0014489	224	154602	rs41265855	0.0049	0.0047	0.0047	0.0051	0.0076	0.0048	0.0048	0.0071	0.0069	0.0007	0.0016	0.0010	2.798e-05	0.0012	0.0023	0.0054	0.0044	0.0076	0.0027	0.0027	0.0026	0.0027	0.0056	0.0024	0.0024	0.0040	0.0037	0.0008	0	0.0016	0.0009	0	0.0016	0	0.0043	0.0047	0.0056	0.013	0.53900	D	0.008	0.67890	D	1.0	0.90584	D	0.938	0.67350	D	.	.	.	.	0.999866	0.50061	D	0.55	0.14455	N	-2.4	0.88455	D	-3.42	0.67705	D	0.535	0.56403	0.264	0.86980	D	0.584	0.85065	D	9	0.0066640675	0.00151	T	0.087792	0.75006	D	0.598	0.84074	.	.	0.57047621783	0.56714	0.37343116588359515	0.37257	1.21482918538	0.80924	0.331874907017	0.15218	T	0.451966	0.79248	T	-0.198167	0.21068	T	-0.0534247	0.66788	D	0.0218844079295318	0.00896	T	0.892511	0.62902	D	0.27074108	0.50145	0.30820176	0.56839	0.27074108	0.50145	0.30820176	0.56838	-7.039	0.54317	T	.	.	0.140	0.30582	B	.;.	.;.	5.141619	0.86086	28.8	0.99938259047164502	0.99698	0.94326	0.60810	D	ALL	0.649116	0.62369	D	0.377142425733975	0.60184	4.20475	0.395767527177374	0.61302	4.328601	0.999999999999977	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.548927	0.17530	0	.	.	4.48	4.48	0.53973	3.614000	0.53901	7.681000	0.65292	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.539	0.84227	248	0.90287	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1778.98	124	chr1	32695311	.	G	A	1778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=2595;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.575;SOR=0.811	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1793,0,1464	20	0	1	0
chr1	35474896	35474896	T	G	exonic	KIAA0319L	.	nonsynonymous SNV	KIAA0319L:NM_024874:exon5:c.A924C:p.E308D,	.	.	434	1076	12	0	0	12	0.00554529	.	.	2812629	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.457	P	0.174	B	0.000	D	1.000	D	1.04	L	3.07	T	-1.117	T	0.070	T	0.082	4.363	23.0	-3.22	-0.137	-0.279	6.828	0.047	0.0103198522308	0.0012	0.00119808	0.0012	0	0.0003	0	0.0003	0.0008	0.0055	0.0054	0.001216	188	154602	rs151103704	0.0013	0.0013	0.0012	0.0015	0.0055	0.0013	0.0012	0.0051	0.0049	0.0002	0.0002	7.708e-05	0	0.0002	0.0017	0.0012	0.0010	0.0055	0.0009	0.0009	0.0008	0.0010	0.0043	0.0008	0.0008	0.0029	0.0024	0.0003	0	0	0	0.0002	0.0003	0	0.0015	0	0.0043	0.046	0.40573	D	0.052	0.47581	T	0.321	0.33029	B	0.101	0.30765	B	0.000085	0.51296	D	0.168326	0.997144	0.43662	D	2.485	0.72352	M	3.07	0.14907	T	-1.69	0.41618	N	0.088	0.06587	-1.1169	0.02538	T	0.070	0.28577	T	10	0.0061453283	0.00138	T	0.01032	0.26719	T	0.047	0.12962	0.369	0.37850	0.233785782151	0.22967	0.3221979876497507	0.32132	0.296860669907	0.32077	0.377983748913	0.21970	T	0.047388	0.27709	T	-0.618871	0.00112	T	-0.660099	0.08259	T	0.0408378993508939	0.03843	T	0.874613	0.66542	D	0.15743412	0.35475	0.105926834	0.25473	0.15743412	0.35475	0.105926834	0.25472	-6.602	0.51068	T	.	.	0.123	0.39898	B	.;.;.	.;.;.	2.109641	0.26843	17.26	0.99708219864570524	0.81143	0.42964	0.26994	N	AEFBI	0.104455	0.20899	N	-0.503944999118098	0.21951	1.168752	-0.465938729170982	0.23098	1.257919	0.855105320386184	0.25117	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.8	-3.22	0.04808	0.183000	0.16729	-0.782000	0.07450	0.661000	0.55757	0.984000	0.35821	0.014000	0.20376	0.997000	0.79791	0.1381:0.5059:0.0:0.356	6.828	0.23080	346	0.85643	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	608.98	33	chr1	35474896	.	T	G	608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.236;DP=770;ExcessHet=0.0000;FS=1.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-3.840e-01;SOR=0.963	GT:AD:DP:GQ:PL	0/1:34,25:59:99:623,0,851	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,18,0:18:54:.:.:572,54,0,572,54,572	0	12	8	0
chr1	45035731	45035731	G	A	exonic	ZSWIM5	.	nonsynonymous SNV	ZSWIM5:NM_020883:exon10:c.C2248T:p.H750Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.165	B	0.051	B	0.000	N	1.000	D	1.565	L	0.96	T	-1.046	T	0.097	T	0.381	2.602	14.66	4.2	1.492	5.743	14.142	0.088	0.0100839407019	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159986867	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	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.14743	T	0.5	0.11190	T	0.165	0.28508	B	0.051	0.25434	B	0.000000	0.84330	N	0.044204	0.999998	0.58761	D	0.625	0.15840	N	0.96	0.42888	T	-2.33	0.51646	N	0.384	0.42541	-1.0465	0.15389	T	0.097	0.36393	T	10	0.20531732	0.36754	T	0.010084	0.26191	T	0.088	0.25558	.	.	0.541423279807	0.53795	0.5511408159056991	0.55040	0.466874323451	0.46080	0.780664205551	0.79028	T	0.043256	0.26443	T	-0.114483	0.34028	T	-0.402224	0.33126	T	0.889321148395538	0.54002	D	0.865913	0.56597	D	0.2971919	0.52651	0.2606345	0.51830	0.2971919	0.52651	0.2606345	0.51829	-3.886	0.22092	T	.	.	0.098	0.16451	B	.	.	3.480071	0.48587	22.6	0.98017980131604632	0.37612	0.95808	0.66241	D	ALL	0.672178	0.63867	D	0.00030851339820262	0.41870	2.512203	0.140157994395979	0.46623	2.905313	0.999999999999999	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.11	4.2	0.48814	5.906000	0.69639	8.667000	0.77995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0732:0.0:0.9268:0.0	14.142	0.64861	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	954.33	35	chr1	45035731	.	G	A	954.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.488e+00;DP=725;ExcessHet=0.0000;FS=0.933;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=0.038;SOR=0.859	GT:AD:DP:GQ:PL	0/1:38,36:74:99:968,0,1054	19	0	1	1
chr1	45088040	45088040	G	A	exonic	ZSWIM5	.	nonsynonymous SNV	ZSWIM5:NM_020883:exon2:c.C793T:p.R265C,	.	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.969	D	0.000	D	1.000	D	2.78	M	0.64	T	-0.301	T	0.271	T	0.972	5.049	29.9	4.61	2.503	9.813	18.335	0.598	0.0767974187746	0.0041	0.00239617	0.0027	0.0008	0.0029	0	0.0008	0.0038	0.0033	0.0014	0.0028266	437	154602	rs116809634	0.0043	0.0043	0.0044	0.0042	0.0087	0.0042	0.0042	0.0068	0.0061	0.0008	0.0030	0.0021	2.519e-05	0.0004	0.0087	0.0050	0.0047	0.0011	0.0032	0.0032	0.0035	0.0029	0.0052	0.0030	0.0029	0.0048	0.0046	0.0012	0	0.0040	0.0014	0	0.0007	0.0068	0.0052	0.0033	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.885	0.83555	M	0.64	0.52867	T	-5.87	0.88630	D	0.89	0.88909	-0.3013	0.74949	T	0.271	0.64277	T	10	0.03297335	0.01461	T	0.076797	0.72618	D	0.598	0.84074	.	.	0.858212518775	0.85684	0.7835790356711932	0.78308	0.550900486598	0.51946	0.836088776588	0.87498	D	0.572703	0.85878	D	-0.00590948	0.50838	T	0.220654	0.84205	D	0.0301943757762457	0.02019	T	0.956004	0.83260	D	0.6396926	0.74814	0.48607525	0.70255	0.6396926	0.74815	0.48607525	0.70255	-10.288	0.75618	D	.	.	0.681	0.72201	P	.	.	5.622251	0.92614	32	0.99934805239166158	0.99579	0.99230	0.93150	D	AEFBI	0.946912	0.95689	D	0.902704048203018	0.91890	11.11985	0.839654726346057	0.92398	11.40319	0.999999700124564	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.61	4.61	0.56724	10.003000	0.99689	8.605000	0.77744	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.335	0.90227	407	0.82314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3796.11	33	chr1	45088040	.	G	A	3796.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.76;DP=984;ExcessHet=0.1072;FS=1.340;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=2.01;SOR=0.775	GT:AD:DP:GQ:PL	0/1:83,75:158:99:1853,0,2081	19	0	2	0
chr1	46019662	46019662	A	G	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon11:c.A1255G:p.I419V	.	.	.	.	.	.	.	.	.	.	.	3277905	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.019	B	0.086	N	0.828	D	0.9	L	1.46	T	-1.027	T	0.043	T	0.081	1.061	9.335	-0.751	0.007	0.948	9.040	0.038	0.00835153113403	.	.	0.0002	0	0.0002	0	0	0	0.0022	0.0012	0.0001488	23	154602	rs763749553	0.0001	0.0001	4.22e-05	0.0002	0.0015	8.78e-05	8.266e-05	0.0013	0.0012	0	0	0	0	0	0	7.194e-06	0.0002	0.0015	3.282e-05	3.281e-05	0	6.711e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.603	0.10694	T	0.333	0.24987	T	0.003	0.11197	B	0.019	0.18783	B	0.086031	0.20609	N	0.496350	0.828266	0.34878	D	0.83	0.20963	L	1.46	0.32238	T	-0.23	0.10656	N	0.224	0.25130	-1.0274	0.21299	T	0.043	0.18451	T	10	0.029153794	0.01043	T	0.008352	0.22105	T	0.038	0.09825	0.654	0.79172	0.47432691512	0.47060	0.15576046640620866	0.15497	0.190368356995	0.21353	0.44664683938	0.31485	T	0.013803	0.11871	T	-0.604015	0.00138	T	-0.659417	0.08306	T	0.0109873584102584	0.00158	T	0.671133	0.27986	T	0.021379635	0.00737	0.028712131	0.01133	0.021379635	0.00737	0.028712131	0.01132	-5.789	0.44478	T	.	.	0.056	0.02488	B	.;.;.	.;.;.	0.479954	0.08493	5.255	0.69646249120017856	0.09039	0.44888	0.27417	N	AEDBI	0.120142	0.23417	N	-0.750775284809903	0.14612	0.7293402	-0.623773340454057	0.18883	1.010723	0.872922468487534	0.25455	0.706298	0.61202	0	0.724815	0.89359	0	0.719019	0.79029	0	0.613276	0.41899	0	.	.	5.1	-0.751	0.10518	0.956000	0.28799	-0.157000	0.11360	-0.164000	0.11507	0.956000	0.33378	0.000000	0.08366	0.997000	0.79791	0.7446:0.0:0.2554:0.0	9.040	0.35474	126	0.94940	Microtubule-associated serine/threonine-protein kinase, domain;Microtubule-associated serine/threonine-protein kinase, domain;Microtubule-associated serine/threonine-protein kinase, domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1142.98	33	chr1	46019662	.	A	G	1142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-6.740e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1157,0,1368	20	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,20:20:60:.:.:721,721,721,60,60,0	0	2	0	0
chr1	53075877	53075877	C	T	exonic	PODN	.	nonsynonymous SNV	PODN:NM_153703:exon5:c.C487T:p.R163C	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.847	P	0.000	D	1.000	D	1.04	L	3.6	T	-1.109	T	0.069	T	0.455	4.049	20.8	2.88	1.284	4.252	11.382	0.191	.	0.0037	0.000998403	0.0054	0.0013	0.0051	0	0.0038	0.0088	0.0102	0.0016	0.0032212	498	154602	rs76250115	0.0051	0.0051	0.0052	0.0050	0.0060	0.0050	0.0050	0.0059	0.0059	0.0010	0.0038	0.0040	5.072e-05	0.0006	0.0033	0.0060	0.0042	0.0011	0.0033	0.0033	0.0035	0.0031	0.0053	0.0031	0.0030	0.0048	0.0047	0.0013	0.0011	0.0036	0.0035	0	0.0005	0.0034	0.0053	0.0057	0.0014	0.022	0.48642	D	0.008	0.67890	D	0.998	0.73220	D	0.847	0.60522	P	0.000085	0.51296	D	0.164918	0.990138	0.81001	D	.	.	.	3.6	0.18570	T	-2.36	0.52128	N	0.334	0.37717	-1.1089	0.03166	T	0.069	0.28180	T	10	0.010117233	0.00226	T	.	.	.	0.191	0.46948	.	.	0.58311486246	0.57984	0.41167202033992806	0.41083	1.16621273823	0.79632	0.500429749489	0.38888	T	.	.	.	-0.442566	0.01249	T	-0.406157	0.32669	T	0.0286892850012045	0.01790	T	0.979302	0.92791	D	.	.	.	.	.	.	.	.	-9.41	0.70423	D	.	.	0.457	0.62543	A	.;.;.	.;.;.	5.336289	0.89543	30	0.99923750659693933	0.98917	0.92272	0.55331	D	AEFBHCI	0.805185	0.72984	D	0.347037552579542	0.58582	4.031443	0.343892843994895	0.58141	3.98295	0.999999724474335	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.96	2.88	0.32617	4.350000	0.59169	3.977000	0.40873	0.599000	0.40250	0.983000	0.35670	0.999000	0.35428	0.996000	0.76049	0.5676:0.4324:0.0:0.0	11.382	0.49004	373	0.84140	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1221.98	37	chr1	53075877	.	C	T	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=823;ExcessHet=0.0000;FS=0.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=1.40;SOR=0.612	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1236,0,1643	20	0	1	0
chr1	53594409	53594409	G	A	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon3:c.C494T:p.P165L	.	.	158	1351	11	2	0	15	0.00552079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.996	D	0.715	P	0.000	D	1.000	D	2.14	M	2.6	T	-1.097	T	0.065	T	0.372	3.495	17.87	5.07	2.537	7.434	17.001	0.214	0.026124916413	0.0014	0.000798722	0.0015	0.0001	0.0004	0	0	0.0018	0.0050	0.0030	0.0013454	208	154602	rs36070063	0.0014	0.0014	0.0013	0.0015	0.0056	0.0014	0.0013	0.0040	0.0035	0.0003	0.0007	0.0023	2.521e-05	7.668e-05	0.0056	0.0014	0.0024	0.0026	0.0011	0.0011	0.0010	0.0013	0.0023	0.0010	0.0009	0.0014	0.0013	0.0003	0	0.0010	0.0026	0	0	0.0034	0.0017	0.0024	0.0023	0.118	0.28148	T	0.002	0.79402	D	0.996	0.68779	D	0.715	0.54683	P	0.000046	0.53742	D	0.000000	1	0.81001	D	2.56	0.74772	M	2.6	0.13204	T	-5.34	0.84674	D	0.522	0.58031	-1.0974	0.04420	T	0.065	0.27017	T	10	0.020538062	0.00475	T	0.026125	0.49060	D	0.214	0.50650	.	.	0.606491963429	0.60334	0.5782930130756248	0.57758	0.357370273106	0.37457	0.651980757713	0.60267	T	0.456827	0.79544	T	-0.441919	0.01260	T	-0.4128	0.31902	T	0.070060948184942	0.08660	T	0.846115	0.52582	T	0.22651224	0.45334	0.27856404	0.53818	0.22651224	0.45334	0.27856404	0.53817	-5.836	0.44887	T	.	.	0.173	0.50352	B	.;.	.;.	4.463385	0.69484	25.4	0.99622888353280714	0.75533	0.98371	0.82097	D	AEFBHCI	0.842287	0.75941	D	0.557033247768843	0.70512	5.512282	0.562033460210662	0.72240	5.77848	0.999999999999994	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	5.845000	0.69157	6.705000	0.56383	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.0:1.0:0.0	17.001	0.86255	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1747.98	34	chr1	53594409	.	G	A	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=1410;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.02;ReadPosRankSum=0.511;SOR=0.719	GT:AD:DP:GQ:PL	0/1:35,62:97:99:1762,0,749	20	0	1	0
chr1	53594436	53594436	A	G	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon3:c.T467C:p.L156P	.	.	193	1312	16	1	0	18	0.00681302	.	.	696797	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.417	B	0.052	B	0.004	N	1.000	D	0.895	L	2.61	T	-1.004	T	0.011	T	0.222	2.781	15.26	3.86	2.051	4.931	11.802	0.051	.	0.0082	0.00738818	0.0056	0.0223	0.0057	0	0.0017	0.0050	0.0094	0.0034	0.0051875	802	154602	rs139516969	0.0044	0.0044	0.0045	0.0044	0.0222	0.0043	0.0043	0.0209	0.0203	0.0222	0.0065	0.0249	0	0.0014	0.0217	0.0034	0.0085	0.0036	0.0094	0.0094	0.0097	0.0090	0.0207	0.0090	0.0088	0.0196	0.0191	0.0207	0	0.0089	0.0230	0	0.0011	0.0374	0.0040	0.0166	0.0037	0.001	0.78490	D	0.004	0.74150	D	0.417	0.35244	B	0.052	0.25551	B	0.004290	0.33902	N	0.132495	1	0.81001	D	2.56	0.74772	M	2.61	0.13095	T	-1.02	0.26843	N	0.782	0.77883	-1.0036	0.28874	T	0.011	0.04321	T	10	0.0047498643	0.00100	T	.	.	.	0.051	0.14325	.	.	0.426084969639	0.42228	0.7204700891341222	0.71990	0.369412280097	0.38471	0.565649032593	0.48064	T	0.064241	0.32382	T	-0.516641	0.00460	T	-0.497976	0.22558	T	0.0480393010211896	0.05151	T	0.650035	0.26084	T	0.60445124	0.72930	0.56323165	0.74724	0.60445124	0.72931	0.56323165	0.74725	-2.419	0.05251	T	.	.	0.242	0.62147	B	.;.	.;.	3.915487	0.57123	23.8	0.99874674512336015	0.95160	0.88836	0.48959	D	AEFBHCI	0.615510	0.60242	D	-0.0549135896203021	0.39382	2.321615	0.0714554512582941	0.43120	2.62044	0.999974259120804	0.50053	0.525926	0.21836	0	0.615948	0.52940	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.07	3.86	0.43689	3.612000	0.53888	7.812000	0.69465	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.8534:0.1466:0.0:0.0	11.802	0.51403	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	874.98	34	chr1	53594436	.	A	G	874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.069e+00;DP=1423;ExcessHet=0.0000;FS=0.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=0.116;SOR=0.805	GT:AD:DP:GQ:PL	0/1:69,40:109:99:889,0,1828	20	0	1	0
chr1	54986242	54986242	C	T	exonic	TMEM61	.	nonsynonymous SNV	TMEM61:NM_182532:exon2:c.C161T:p.T54M,	.	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.807	P	0.148	B	0.379	N	1.000	N	0.46	N	0.9	T	-1.048	T	0.037	T	0.138	0.933	8.803	0.337	0.188	0.259	3.018	0.041	0.00686926057472	0.0023	0.00119808	0.0025	0.0009	0.0019	0	0.0020	0.0037	0.0011	0.0007	0.0024967	386	154602	rs138273726	0.0031	0.0031	0.0031	0.0031	0.0075	0.0030	0.0030	0.0057	0.0051	0.0005	0.0022	0.0026	0	0.0032	0.0075	0.0035	0.0022	0.0006	0.0024	0.0024	0.0024	0.0025	0.0038	0.0022	0.0021	0.0034	0.0033	0.0006	0	0.0019	0.0026	0	0.0036	0.0034	0.0038	0.0033	0.0004	0.127	0.27080	T	0.174	0.30045	T	0.807	0.45251	P	0.148	0.34065	B	0.379164	0.04409	N	1.422950	1	0.08975	N	0.895	0.22405	L	0.9	0.45248	T	-2.83	0.59710	D	0.135	0.13198	-1.0483	0.14875	T	0.037	0.15899	T	10	0.0049205422	0.00105	T	0.006869	0.18177	T	0.041	0.10877	.	.	0.0920862733494	0.08535	0.28375994575093766	0.28288	0.656864753387	0.58664	0.335006415844	0.15689	T	0.046327	0.27392	T	-0.598424	0.00149	T	-0.631556	0.10298	T	0.0164594106813816	0.00411	T	0.492651	0.15191	T	0.028978221	0.02319	0.062042996	0.12076	0.028978221	0.02318	0.062042996	0.12075	-5.115	0.38065	T	.	.	0.095	0.14933	B	.	.	1.742110	0.22164	15.51	0.99073436003620108	0.51786	0.03386	0.08494	N	AEFDBI	0.061962	0.11882	N	-0.703664453174515	0.15918	0.8065255	-0.807133419190352	0.14324	0.7478004	0.0864700779211896	0.16009	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.8	0.337	0.15206	0.487000	0.22064	0.007000	0.13381	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.171:0.396:0.3336:0.0994	3.018	0.05696	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1712.98	34	chr1	54986242	.	C	T	1712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.485;DP=811;ExcessHet=0.0000;FS=3.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=0.093;SOR=0.410	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1727,0,1244	20	0	1	0
chr1	63623734	63623734	A	G	exonic	PGM1	.	nonsynonymous SNV	PGM1:NM_001172818:exon1:c.A274G:p.I92V,	Congenital disorder of glycosylation, type It, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.377	B	0.201	B	.	.	1.000	D	1.325	L	0.01	T	-1.021	T	0.099	T	0.114	1.688	11.60	2.6	0.424	4.168	9.606	0.086	0.0170426948065	.	0.000399361	0.0004	0	0.0002	0	0	0	0.0012	0.0025	0.0002911	45	154602	rs554580781	0.0002	0.0002	0.0001	0.0002	0.0027	0.0002	0.0001	0.0024	0.0023	0	8.949e-05	0	2.521e-05	0	0.0003	8.999e-07	0.0002	0.0027	7.879e-05	7.874e-05	5.139e-05	0.0001	0.0021	4.494e-05	3.51e-05	0.0011	0.0009	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0021	0.085	0.32769	T	0.092	0.39954	T	0.377	0.34270	B	0.201	0.36881	B	.	.	.	.	0.789932	0.81001	D	.	.	.	0.01	0.62459	T	-0.65	0.18877	N	0.225	0.25253	-1.0210	0.23389	T	0.099	0.36932	T	9	0.018765718	0.00411	T	0.017043	0.38572	T	0.086	0.25016	0.678	0.81594	0.723890610637	0.72145	0.639469539201632	0.63881	0.150402291705	0.16965	0.546819865704	0.45408	T	.	.	.	-0.475918	0.00782	T	-0.461948	0.26387	T	0.0458828210059634	0.04762	T	0.754725	0.37732	T	.	.	.	.	.	.	.	.	-5.234	0.39285	T	.	.	0.083	0.09094	B	.	.	1.467383	0.18910	13.99	0.97682859243918729	0.35323	0.92102	0.54949	D	AEFDBI	0.478182	0.52086	N	-0.0974755908511238	0.37502	2.182786	-0.0240862585941492	0.38630	2.278675	0.993708988361822	0.33321	0.522611	0.21652	0	0.54472	0.11627	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.98	2.6	0.30173	3.520000	0.53221	3.545000	0.39022	0.756000	0.94297	1.000000	0.71638	0.990000	0.31317	0.971000	0.54645	0.8536:0.0:0.1464:0.0	9.606	0.38797	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	547.98	39	chr1	63623734	.	A	G	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=767;ExcessHet=0.0000;FS=2.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.445;SOR=1.270	GT:AD:DP:GQ:PL	0/1:37,21:58:99:562,0,1020	20	0	1	0
chr1	74724730	74724730	G	A	exonic	CRYZ	.	nonsynonymous SNV	CRYZ:NM_001130043:exon2:c.C92T:p.P31L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.985	D	0.000	D	1.000	D	2.635	M	0.44	T	-0.301	T	0.323	T	0.784	1.423	10.70	4.55	2.447	8.090	17.807	0.541	0.100499864816	.	.	6.606e-05	0	0.0002	0.0002	0	3.003e-05	0	0.0001	5.17e-05	8	154602	rs752243991	3.367e-05	3.831e-05	2.736e-05	4.005e-05	0.0002	2.578e-05	2.322e-05	0.0001	8.737e-05	3.017e-05	0	0	5.063e-05	0	0.0002	2.617e-05	1.663e-05	0.0002	1.316e-05	1.314e-05	2.572e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.027	0.48186	D	0.026	0.56640	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.355	0.91145	M	0.44	0.56609	T	-7.66	0.95603	D	0.871	0.86833	-0.3008	0.74963	T	0.323	0.69203	T	10	0.94029534	0.93356	D	0.101	0.77281	D	0.541	0.80842	0.708	0.84418	0.752388196393	0.75015	0.8533941179449992	0.85301	0.344204733655	0.36343	0.520662665367	0.41720	T	0.43691	0.78312	T	-0.00317809	0.51216	T	0.0370935	0.72739	D	0.909112751483917	0.56391	D	0.747125	0.36767	T	0.5269284	0.68656	0.25089705	0.50690	0.5269284	0.68657	0.25089705	0.50689	-11.08	0.80095	D	.	.	0.316	0.54434	B	.;.;.;.;.	.;.;.;.;.	4.153291	0.62320	24.4	0.96287814300598018	0.29305	0.98777	0.86718	D	AEFBI	0.878179	0.80328	D	0.50916249543331	0.67631	5.107	0.346954386331373	0.58324	4.00232	0.999999984768422	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.55	4.55	0.55429	8.316000	0.89903	11.627000	0.93669	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	17.807	0.88514	786	0.46839	Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;.;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1579.98	34	chr1	74724730	.	G	A	1579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.115e+00;DP=819;ExcessHet=0.0000;FS=4.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.949;SOR=0.418	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1594,0,1631	20	0	1	0
chr1	77568390	77568390	T	C	exonic	ZZZ3	.	nonsynonymous SNV	ZZZ3:NM_001376151:exon11:c.A2405G:p.K802R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.197	B	0.084	B	0.000	D	1.000	D	0.55	N	.	.	-1.064	T	0.058	T	0.149	2.523	14.40	4.57	2.299	4.609	10.37	0.194	0.00291864408177	.	0.000599042	0.0004	0	0.0002	0	0	0.0003	0	0.0020	0.0003881	60	154602	rs201394025	0.0003	0.0003	0.0002	0.0004	0.0021	0.0003	0.0002	0.0019	0.0018	3.076e-05	0	0	2.575e-05	0	0	0.0002	0.0001	0.0021	0.0002	0.0002	0.0002	0.0001	0.0017	0.0001	0.0001	0.0008	0.0006	2.412e-05	0	0	0	0	0	0	0.0002	0	0.0017	0.175	0.22400	T	0.316	0.19362	T	.	.	.	.	.	.	0.000004	0.62929	D	0.104568	0.999846	0.52396	D	.	.	.	.	.	.	-1.06	0.29525	N	0.301	0.36148	-1.0640	0.10784	T	0.058	0.24465	T	9	0.01291284	0.00276	T	0.002919	0.06192	T	0.194	0.47447	.	.	0.138757226776	0.13463	.	.	0.18397030042	0.20688	0.587161898613	0.51095	T	.	.	.	-0.423146	0.01634	T	-0.399611	0.33430	T	0.0553032621870525	0.06408	T	0.816918	0.48813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14108	B	.;.	.;.	4.024953	0.59480	24.1	0.99482886449425856	0.67014	0.97025	0.72256	D	AEFBI	0.570935	0.57512	D	-0.0813659577603293	0.38209	2.23445	0.12370383326168	0.45765	2.833832	0.490667273183627	0.20860	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.7	4.57	0.55860	4.593000	0.60743	5.889000	0.50737	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1284:0.0:0.8716	10.37	0.43232	642	0.63909	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	392.98	37	chr1	77568390	.	T	C	392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.515e+00;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.00;QD=7.56;ReadPosRankSum=-9.170e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:30,22:52:99:407,0,693	20	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,24:89:99:.:.:334,0,771	1	0	17	3
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,292,0,0:292:99:.:.:12530,880,0,12530,880,12530,12530,880,12530,12530	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,292,0,0:292:99:.:.:12530,880,0,12530,880,12530,12530,880,12530,12530	0	12	6	0
chr1	89933367	89933367	T	A	exonic	LRRC8D	.	nonsynonymous SNV	LRRC8D:NM_001134479:exon3:c.T299A:p.F100Y	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	B	0.009	B	0.019	N	0.827	D	0.345	N	1.49	T	-1.066	T	0.032	T	0.414	0.374	6.028	6.07	2.326	2.684	15.212	0.073	0.00544093214312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.54683	T	1.0	0.32144	T	0.056	0.22806	B	0.009	0.14300	B	0.019143	0.27321	N	0.379224	0.827112	0.34862	D	0	0.06538	N	1.49	0.44856	T	0.24	0.04776	N	0.415	0.45520	-1.0663	0.10246	T	0.032	0.13854	T	9	0.13753137	0.26162	T	0.005441	0.13984	T	0.073	0.21317	0.164	0.06842	0.309278343525	0.30543	0.07384258655501405	0.07321	0.681429801449	0.60047	0.476101398468	0.35520	T	0.015964	0.13288	T	-0.109216	0.34897	T	-0.394657	0.34006	T	0.91344940662384	0.56971	D	0.539346	0.20864	T	0.10433832	0.24665	0.053733535	0.09108	0.10433832	0.24665	0.053733535	0.09107	-3.729	0.19747	T	.	.	0.095	0.27222	B	.;.;.;.;.;.	.;.;.;.;.;.	2.772286	0.36392	20.2	0.7979913398890679	0.12906	0.99011	0.89930	D	AEFBI	0.637145	0.61603	D	-0.17504765921172	0.34176	1.947551	0.0424731391114141	0.41708	2.510399	0.999999989899118	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	2.270000	0.43014	4.214000	0.42550	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.0:1.0	15.212	0.72919	815	0.41851	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;.;.;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	8267.08	40	chr1	89933367	.	T	A	8267.08	.	AC=2;AF=0.048;AN=42;DP=976;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.67;SOR=0.716	GT:AD:DP:GQ:PL	1/1:0,261:261:99:8295,783,0	20	1	0	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,34:110:99:.:.:542,0,2670	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,33:112:99:.:.:245,0,1700	6	0	15	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:17,10,0:27:99:367,0,664,419,694,1112	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:17,10,0:27:99:367,0,664,419,694,1112	1	11	8	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.375	B	0.25	B	0.024	N	0.989	D	-0.01	N	4.38	T	-0.907	T	0.002	T	0.107	1.805	12.00	1.09	0.047	0.976	9.065	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1579.24	62	chr1	109508616	.	G	C	1579.24	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.065e+00;DP=1797;ExcessHet=2.5830;FS=184.263;InbreedingCoeff=-0.2692;MLEAC=8;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.17;SOR=8.429	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,18:94:99:0|1:109508616_G_C:294,0,1971:109508616	11	0	7	3
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	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	D	.	.	-2.03	D	-1.004	T	0.102	T	.	-0.002	4.004	0.29	0.536	-0.114	6.662	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	0	0	0.02381	1059.98	40	chr1	109621124	.	C	G	1059.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.613;DP=781;ExcessHet=0.0000;FS=4.857;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.82;ReadPosRankSum=-4.940e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/1:29,38:67:99:1074,0,732	20	0	1	0
chr1	112713520	112713520	G	C	exonic	PPM1J	.	nonsynonymous SNV	PPM1J:NM_005167:exon2:c.C418G:p.P140A,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.001	B	0.002	B	0.782	N	0.999	N	1.245	L	1.57	T	-0.945	T	0.019	T	0.141	1.361	10.48	2.08	0.141	0.352	7.475	0.032	0.00932765470745	.	0.000399361	0.0002	0	0	0	0	0	0	0.0018	0.000207	32	154602	rs551116956	9.853e-05	9.85e-05	4.766e-05	0.0001	0.0017	8.513e-05	7.983e-05	0.0014	0.0014	0	0	0	0	0	0	8.995e-07	0	0.0017	6.573e-05	6.562e-05	2.572e-05	0.0001	0.0021	3.518e-05	2.617e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.067	0.35918	T	0.106	0.37872	T	0.001	0.07471	B	0.002	0.06944	B	0.781502	0.09467	N	0.912515	1	0.08975	N	1.445	0.36358	L	1.57	0.29342	T	-2.63	0.56466	D	0.179	0.19325	-0.9448	0.41846	T	0.019	0.08079	T	10	0.008260429	0.00187	T	0.009328	0.24483	T	0.032	0.07718	0.344	0.33788	0.232513804876	0.22884	0.41065513961308847	0.40981	0.0747858381331	0.08389	0.419930994511	0.27826	T	0.077564	0.35685	T	-0.567317	0.00230	T	-0.612315	0.11798	T	0.0240675428783351	0.01153	T	0.634137	0.24845	T	0.05252941	0.09811	0.070107475	0.14853	0.05252941	0.09811	0.070107475	0.14853	-3.567	0.17381	T	.	.	0.061	0.01179	B	.	.	0.732977	0.11023	7.679	0.69464747763251555	0.08981	0.11957	0.16970	N	AEFDBCI	0.106987	0.21329	N	-0.957929310683711	0.09515	0.4507051	-0.969941451167493	0.10464	0.527185	0.999987993456731	0.51787	0.766844	0.99359	0	0.624146	0.53433	0	0.851219	0.99655	0	0.655142	0.61905	0	.	.	5.13	2.08	0.26079	0.888000	0.27904	2.748000	0.34514	0.676000	0.76740	0.304000	0.25361	0.998000	0.33993	0.002000	0.04165	0.0901:0.3212:0.5887:0.0	7.475	0.26539	885	0.28214	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1838.98	33	chr1	112713520	.	G	C	1838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.613;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-2.790e+00;SOR=0.727	GT:AD:DP:GQ:PL	0/1:94,78:172:99:1853,0,2392	20	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.019	B	0.006	B	0.000	N	1.000	D	0.55	N	1.89	T	-0.961	T	0.016	T	0.249	0.420	6.281	2.7	0.841	0.795	6.367	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:67,21,0:88:99:244,0,1719,440,1779,2219	12	0	8	0
chr1	112913901	112913901	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493A:p.S498N	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.626	P	0.219	B	0.000	N	1.000	D	0.55	N	1.87	T	-1.064	T	0.021	T	0.104	1.964	12.53	2.7	0.841	0.795	6.367	0.041	0.0129096832338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.114	0.36765	T	0.626	0.40074	P	0.219	0.37734	B	0.000194	0.00507	N	3.613670	0.542923	0.32069	D	0.55	0.14455	N	1.87	0.24085	T	-0.51	0.15986	N	0.234	0.26354	-1.0643	0.10713	T	0.021	0.08686	T	10	0.10610628	0.19646	T	0.01291	0.31889	T	0.041	0.10877	0.121	0.02793	0.200294437569	0.19612	0.24899618109934885	0.24813	0.315069041011	0.33789	0.411491125822	0.26663	T	0.106424	0.41776	T	-0.242444	0.15039	T	-0.58603	0.14011	T	0.547992467880249	0.34402	D	.	.	.	0.096315265	0.22684	0.08850896	0.20641	0.096315265	0.22683	0.08850896	0.20641	-4.187	0.26563	T	.	.	0.102	0.18206	B	.;.	.;.	1.870468	0.23763	16.14	0.98071642327873421	0.38030	0.50322	0.28636	D	AEFBI	0.126630	0.24365	N	-0.162150398385312	0.34719	1.985187	-0.0858474992985718	0.35975	2.087787	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:67,21,0:88:99:244,0,1719,440,1779,2219	12	0	8	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:86,63:158:99:679,0,1054	0	0	21	0
chr1	119626088	119626088	C	T	exonic	ZNF697	.	nonsynonymous SNV	ZNF697:NM_001080470:exon2:c.G13A:p.D5N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.0	B	.	.	1.000	N	0.55	N	2.85	T	-0.902	T	0.004	T	0.058	-0.293	2.603	-0.886	-0.127	1.223	2.010	0.042	0.00321540379781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	5.446e-06	1.375e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.20306	T	0.565	0.08961	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.85	0.10578	T	-0.26	0.11185	N	0.134	0.13055	-0.9024	0.47739	T	0.004	0.01435	T	9	0.03836295	0.02250	T	0.003215	0.07057	T	0.042	0.11227	0.09	0.01023	0.0482279557977	0.04254	0.01989842870568829	0.01942	0.576102096463	0.53574	0.346091806889	0.17345	T	0.006506	0.05941	T	-0.364388	0.03888	T	-0.761194	0.03070	T	0.0437759930570969	0.04379	T	0.445855	0.12478	T	0.016812993	0.00224	0.027521132	0.00911	0.016812993	0.00223	0.027521132	0.00911	-4.709	0.33513	T	.	.	0.081	0.08033	B	.	.	1.523918	0.19565	14.33	0.75566970484248897	0.11125	0.23600	0.22128	N	AEFDBI	0.057931	0.10829	N	-1.33099382771568	0.03326	0.148385	-1.32345379132641	0.04129	0.1940939	0.999945531559973	0.47345	0.706548	0.73137	0	0.547309	0.14657	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.32	-0.886	0.10054	0.889000	0.27917	0.976000	0.23092	-0.873000	0.02525	0.187000	0.24151	0.508000	0.25241	0.009000	0.08673	0.269:0.4384:0.1311:0.1616	2.010	0.03274	669	0.61081	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	474.98	35	chr1	119626088	.	C	T	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.756;DP=742;ExcessHet=0.0000;FS=2.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=0.673;SOR=1.250	GT:AD:DP:GQ:PL	0/1:39,20:59:99:489,0,1098	20	0	1	0
chr1	120465316	120465316	A	G	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon22:c.A2530G:p.K844E,	.	.	520	1001	1	0	0	1	0.000499251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463149732	9.252e-05	6.999e-05	7.721e-05	0.0001	0.0018	7.274e-05	6.525e-05	0.0006	0.0004	0	0.0002	0	0	0	0.0018	6.017e-05	0.0002	0.0002	8.911e-06	3.44e-05	0	1.833e-05	.	0	0	.	.	0	0	0	0	0	0	0.0043	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	128.98	36	chr1	120465316	.	A	G	128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.270e-01;DP=600;ExcessHet=0.0000;FS=1.970;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=42.15;MQRankSum=-2.634e+00;QD=4.96;ReadPosRankSum=1.10;SOR=0.223	GT:AD:DP:GQ:PL	0/1:19,7:26:99:143,0,565	20	0	1	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H	.	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	404.84	72	chr1	144435839	.	C	G	404.84	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-4.463e+00;DP=1565;ExcessHet=0.7148;FS=12.124;InbreedingCoeff=-0.1183;MLEAC=4;MLEAF=0.100;MQ=31.23;MQRankSum=-1.852e+00;QD=1.07;ReadPosRankSum=2.75;SOR=2.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,8:82:99:0|1:144435839_C_G:113,0,3023:144435839	16	0	4	1
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:537,87:624:99:644,0,14552	1	0	20	0
chr1	149079127	149079127	C	G	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon4:c.G373C:p.E125Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.007	B	0.002	B	.	.	1.000	N	.	.	4.39	T	-0.954	T	0.001	T	0.321	-3.071	0.001	-1.04	-0.770	-0.311	.	0.025	.	.	.	0.0644	0.0770	0.0487	0.0410	0.0303	0.0633	0.0866	0.0969	0.0106808	278	26028	.	8.799e-07	7.127e-05	1.795e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	6.917e-05	0.0006	9.41e-05	4.275e-05	0.0002	3.691e-05	2.843e-05	6.773e-05	4.555e-05	0.0002	0	0	0	0.0002	9.903e-05	0	1.515e-05	0	0.0002	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.05414	-0.9539	0.40292	T	0.001	0.00318	T	6	0.0030939877	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547456741333	0.45498	T	.	.	.	-0.147531	0.28698	T	-0.449695	0.27730	T	0.00119219371206561	0.00012	T	0.891311	0.66975	D	0.099779524	0.23552	0.08344974	0.19124	0.099779524	0.23552	0.08344974	0.19124	-9.559	0.71226	D	.	.	0.079	0.36869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.030248	0.04496	1.203	0.057885152920866254	0.00015	0.00003	0.00079	N	AEFI	0.013383	0.00176	N	-1.68197913367445	0.00907	0.03928493	-1.79824352941992	0.00765	0.03410724	1.92802502388975E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	0.521	-1.04	0.09555	-0.551000	0.06117	-1.586000	0.05115	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	35.49	40	chr1	149079127	.	C	G	35.49	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.737e+00;DP=586;ExcessHet=0.3300;FS=43.974;InbreedingCoeff=-0.0799;MLEAC=2;MLEAF=0.050;MQ=34.99;MQRankSum=-2.131e+00;QD=0.51;ReadPosRankSum=-1.054e+00;SOR=5.133	GT:AD:DP:GQ:PL	0/1:18,3:21:45:45,0,614	17	0	3	1
chr1	149080125	149080125	A	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.T206G:p.F69C	.	.	428	1033	59	0	2	61	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.561	P	0.03	B	.	.	0.994	N	.	.	4.04	T	-0.891	T	0.003	T	0.617	-0.096	3.531	0.521	-0.507	0.085	.	0.180	.	.	.	0.0033	0.0145	0.0009	0	0.0012	0.0027	0.0023	0.0042	.	.	.	rs1390912950	0.0002	0.0010	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0004	0.0007	2.254e-05	0	0	0	0	0.0002	0.0001	1.217e-05	1.317e-05	4.599e-05	1.287e-05	1.348e-05	2.424e-05	2.19e-06	8.2e-07	.	.	2.424e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.06	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25377	-0.8915	0.48802	T	0.003	0.00929	T	6	0.006337911	0.00143	T	.	.	.	.	.	.	.	0.33085137897	0.32697	.	.	.	.	0.562167644501	0.47573	T	.	.	.	-0.00962353	0.50319	T	-0.2516	0.49658	T	0.00364377396181226	0.00039	T	0.776122	0.54441	T	0.07975494	0.18237	0.11654482	0.28135	0.07975494	0.18236	0.11654482	0.28134	-8.196	0.62519	D	.	.	0.208	0.66592	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.307220	0.17096	12.96	0.63452259433326419	0.07228	0.00133	0.00820	N	AEBI	0.030160	0.02983	N	-1.27017796842118	0.04039	0.1815783	-1.42974027466438	0.02958	0.1371134	1.34789044892587E-6	0.01202	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.508809	0.08732	0	.	.	0.521	0.521	0.16244	0.257000	0.18137	2.458000	0.32842	-0.610000	0.04588	0.000000	0.06391	0.053000	0.21875	0.001000	0.02609	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1244.68	287	chr1	149080125	.	A	C	1244.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.343e+00;DP=3650;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.29;MQRankSum=-1.785e+00;QD=1.65;ReadPosRankSum=-5.750e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/1:248,45:293:99:380,0,7411	18	0	3	0
chr1	149971194	149971194	T	C	exonic	OTUD7B	.	nonsynonymous SNV	OTUD7B:NM_020205:exon3:c.A143G:p.H48R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.955	P	0.821	P	0.000	N	0.972	D	1.795	L	1.51	T	-1.044	T	0.085	T	0.43	3.209	16.75	4.21	1.038	4.646	7.727	0.158	0.0173175644143	.	.	3.313e-05	0	0	0	0	2.998e-05	0	0.0001	3.23e-05	5	154602	rs782589872	2.326e-05	2.326e-05	2.042e-05	2.613e-05	0.0002	1.674e-05	1.478e-05	8.887e-05	7.054e-05	0	0	0	2.519e-05	0	0	1.619e-05	3.312e-05	0.0002	6.575e-06	6.568e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.008	0.58626	D	0.078	0.42261	T	0.955	0.54515	P	0.821	0.59116	P	0.000030	0.55875	N	0.158618	0.972114	0.38921	D	.	.	.	1.36	0.34452	T	-2.6	0.55983	D	0.497	0.53006	-1.0437	0.16207	T	0.085	0.33213	T	9	0.28200626	0.45778	T	0.017318	0.38971	T	0.158	0.41098	0.486	0.56939	0.46682414995	0.46307	0.4918515549687504	0.49106	.	.	0.800731658936	0.82074	T	0.119344	0.44081	T	-0.20163	0.20570	T	-0.345876	0.39678	T	0.854708969593048	0.50576	D	0.851715	0.53598	D	0.08730503	0.20326	0.16634259	0.38433	0.08730503	0.20325	0.16634259	0.38432	-12.713	0.88146	D	.	.	0.293	0.52459	B	.;.	.;.	3.927545	0.57385	23.9	0.98816473526491955	0.46704	0.97421	0.74643	D	AEFBI	0.358637	0.44924	N	0.431720512031974	0.63175	4.546171	0.42264134755884	0.62977	4.522795	0.999914555884508	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	5.34	4.21	0.48984	4.781000	0.62082	6.186000	0.54701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1628:0.0:0.8372	7.727	0.27930	247	0.90334	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1428.98	35	chr1	149971194	.	T	C	1428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=1.84;SOR=0.699	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1443,0,1671	20	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	1186.66	278	chr1	152214827	.	A	C,*	1186.66	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.86;DP=4621;ExcessHet=11.8493;FS=40.936;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.91;MQRankSum=2.09;QD=0.32;ReadPosRankSum=-5.707e+00;SOR=11.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:229,0,36:265:99:0|1:152214821_T_A:755,1444,10961,0,9517,9409:152214821	8	0	3	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	998.62	267	chr1	152214830	.	C	CATGTTGGCCACAG,*	998.62	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.04;DP=4604;ExcessHet=11.8493;FS=41.163;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.81;MQRankSum=1.90;QD=0.27;ReadPosRankSum=-5.805e+00;SOR=11.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:229,0,36:265:99:0|1:152214821_T_A:755,1444,10961,0,9517,9409:152214821	8	0	3	0
chr1	152216709	152216711	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.4918_4920del:p.H1640del,	.	.	491	1022	9	0	0	9	0.00438383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403795514	6.077e-05	0.0006	4.854e-05	7.283e-05	0.0007	4.767e-05	4.358e-05	0.0005	0.0004	0	0	0	2.914e-05	0	0.0003	1.703e-05	7.089e-05	0.0007	4.618e-05	0.0002	0	9.894e-05	0.0009	1.478e-05	9.26e-06	0.0002	6.698e-05	6.124e-05	0	0	0	0	0	0	2.077e-05	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	73.3	62	chr1	152216708	.	CGTG	C	73.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.48;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=24.48;MQRankSum=0.525;QD=1.59;ReadPosRankSum=-1.783e+00;SOR=0.020	GT:AD:DP:GQ:PL	0/1:41,5:46:87:87,0,1690	19	0	1	1
chr1	152219623	152219623	A	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T2006C:p.F669S,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	-1.525	N	4.37	T	-0.994	T	0.001	T	0.064	0.607	7.269	2.52	0.651	-0.409	8.714	0.034	.	.	0.00279553	0.0009	0	0.0002	0	0	4.495e-05	0	0.0061	0.0007956	123	154602	rs77790012	0.0004	0.0005	0.0002	0.0006	0.0064	0.0004	0.0004	0.0059	0.0058	0	2.264e-05	0	0.0001	0	0.0002	6.338e-06	0.0004	0.0064	0.0003	0.0004	0.0002	0.0004	0.0096	0.0002	0.0002	0.0072	0.0064	2.695e-05	0	0	0	0.0002	0	0	3.363e-05	0	0.0096	0.125	0.27310	T	0.709	0.05544	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.325	0.00090	N	4.37	0.02277	T	2.95	0.00148	N	0.094	0.07398	-0.9944	0.31459	T	0.001	0.00255	T	9	0.005220473	0.00114	T	.	.	.	0.034	0.08419	.	.	0.295623431141	0.29171	0.033653172035226414	0.03313	.	.	0.560231804848	0.47300	T	0.013727	0.11817	T	-0.410801	0.01963	T	-0.827863	0.01300	T	0.021996538704179	0.00908	T	0.142786	0.01162	T	0.029769693	0.02527	0.0867597	0.20122	0.029769693	0.02526	0.0867597	0.20121	2.422	0.00035	T	.	.	0.069	0.03093	B	.	.	-0.250657	0.02843	0.398	0.56543394743680775	0.05575	0.00010	0.00151	N	AEFBI	0.010405	0.00074	N	-1.43805631999196	0.02312	0.1019549	-1.35977285290676	0.03692	0.1727441	7.52600819089051E-5	0.04552	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	2.52	0.29514	-0.631000	0.05593	.	.	-1.235000	0.01322	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1177:0.0:0.8823:0.0	8.714	0.33561	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	356.82	390	chr1	152219623	.	A	G	356.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=2.89;DP=8803;ExcessHet=0.1072;FS=7.455;InbreedingCoeff=-0.0515;MLEAC=1;MLEAF=0.025;MQ=59.04;MQRankSum=-1.697e+01;QD=0.38;ReadPosRankSum=-6.878e+00;SOR=1.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,34:468:1:0|1:152219623_A_G:1,0,18039:152219623	18	0	2	1
chr1	152219626	152219626	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A2003G:p.D668G,	.	.	424	1094	2	0	2	4	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.0	B	.	.	1.000	N	-1.355	N	3.82	T	-0.930	T	0.001	T	0.075	0.541	6.927	-4.87	-1.002	-2.367	5.561	0.022	0.00115791171022	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	0.00073	19	26028	rs201373508	8.49e-06	0.0001	9.849e-06	7.115e-06	3.53e-05	4.53e-06	3.58e-06	9.38e-06	4.6e-06	0	0	0	0	0	0	7.41e-06	1.742e-05	3.53e-05	4.634e-05	0.0002	7.256e-05	1.895e-05	0.0002	1.755e-05	1.184e-05	3.046e-05	1.262e-05	3.18e-05	0	0.0002	0	0	0	0	4.303e-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	N	-2.49	0.00058	N	3.82	0.03728	T	1.88	0.00467	N	0.075	0.04913	-0.9305	0.44066	T	0.001	0.00287	T	9	0.023259073	0.00603	T	0.001158	0.01459	T	0.022	0.04323	.	.	0.134241683229	0.13084	0.025996270308110095	0.02550	.	.	0.479595899582	0.36001	T	0.01356	0.11709	T	-0.417779	0.01767	T	-0.837887	0.01131	T	0.0233545887119417	0.01065	T	0.194581	0.02117	T	0.026619844	0.01743	0.05906723	0.11022	0.026619844	0.01743	0.05906723	0.11022	1.939	0.00055	T	.	.	0.092	0.13503	B	.	.	-0.821274	0.01066	0.046	0.43249806253065387	0.03243	0.00199	0.01145	N	AEFBI	0.017387	0.00452	N	-1.79079954483704	0.00568	0.02446565	-1.8032040271601	0.00749	0.03338449	3.23504371043759E-4	0.06540	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	-4.87	0.02893	-2.060000	0.01480	.	.	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4184:0.2235:0.3581	5.561	0.16427	570	0.70478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1669.56	390	chr1	152219626	.	T	C	1669.56	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.72;DP=9128;ExcessHet=0.1072;FS=13.411;InbreedingCoeff=-0.0771;MLEAC=2;MLEAF=0.053;MQ=58.22;MQRankSum=-1.842e+01;QD=1.68;ReadPosRankSum=-8.378e+00;SOR=1.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,38:472:81:0|1:152219623_A_G:81,0,17984:152219623	17	0	2	2
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E,	Ichthyosis vulgaris, Autosomal dominant	.	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.1	N	4.69	T	-0.977	T	0.001	T	0.055	0.459	6.492	1.99	-0.043	0.245	5.49	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	79746.79	67	chr1	152308312	.	T	G,C	79746.79	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-5.400e-01;DP=8463;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=58.40;MQRankSum=-1.301e+01;QD=10.85;ReadPosRankSum=2.95;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:270,452,0:722:99:0|1:152308306_A_G:17919,0,9795,18732,11155,29887:152308306	10	0	10	0
chr1	152309431	152309431	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5455C:p.S1819P,	Ichthyosis vulgaris, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	1164060	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.963	D	0.702	P	.	.	1.000	N	1.32	L	3.81	T	-0.948	T	0.009	T	0.224	1.562	11.18	2.82	0.661	0.712	6.509	0.022	0.0042655887967	.	.	1.648e-05	0	0	0	0	1.498e-05	0	6.064e-05	3.84e-05	1	26028	rs754699295	5.971e-05	0.0028	5.519e-05	6.428e-05	0.0008	4.949e-05	4.563e-05	0.0006	0.0005	2.999e-05	2.261e-05	0.0001	0.0008	3.784e-05	0	3.365e-05	3.364e-05	0.0001	0.0008	0.0057	0.0007	0.0009	0.0035	0.0007	0.0006	0.0021	0.0017	0.0002	0.0012	0.0018	0.0003	0.0029	0.0002	0	0.0008	0.0005	0.0035	0.035	0.43708	D	.	.	.	0.963	0.55692	D	0.702	0.54226	P	.	.	.	.	1	0.08975	N	1.83	0.48079	L	3.81	0.03754	T	-2.99	0.62151	D	0.181	0.19593	-0.9475	0.41397	T	0.009	0.03315	T	9	0.09409812	0.16705	T	0.004266	0.10310	T	0.022	0.04323	.	.	0.333906830038	0.33007	0.0059005026785626	0.00559	.	.	0.276070654392	0.06950	T	0.08566	0.37551	T	-0.258639	0.13059	T	-0.609294	0.12041	T	0.335630357265472	0.26450	T	0.347365	0.07649	T	0.37962916	0.59289	0.29499885	0.55531	0.37962916	0.59290	0.29499885	0.55530	-6.129	0.47346	T	.	.	0.227	0.45942	B	.	.	2.071872	0.26345	17.09	0.94045235846636877	0.24169	0.02034	0.06095	N	AEFBI	0.054419	0.09892	N	-0.360126105977561	0.26901	1.471835	-0.544381783131769	0.20954	1.131363	4.64081277013022E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	2.82	0.32061	0.771000	0.26294	.	.	0.361000	0.20101	0.005000	0.17040	0.000000	0.08366	0.018000	0.11154	0.8853:0.0:0.1147:0.0	6.509	0.21409	565	0.70868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	3233.11	67	chr1	152309431	.	A	G	3233.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.70;DP=5169;ExcessHet=0.1072;FS=2.670;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.88;MQRankSum=-1.497e+01;QD=3.44;ReadPosRankSum=-3.803e+00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,59:458:99:0|1:152309431_A_G:1192,0,16397:152309431	19	0	2	0
chr1	152309635	152309635	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5251G:p.T1751A,	Ichthyosis vulgaris, Autosomal dominant	.	0	1484	38	0	0	38	0.0126414	.	.	2758319	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.003	B	0.008	B	.	.	1.000	N	-0.245	N	4.4	T	-0.902	T	0.001	T	0.054	0.385	6.093	-7.86	-2.869	-4.455	0.643	0.022	0.00137596557186	.	0.000199681	0.0002	9.61e-05	8.637e-05	0.0003	0	0.0002	0	6.056e-05	0.0001423	22	154602	rs577966299	0.0001	0.0073	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0002	2.264e-05	0.0001	0.0005	1.894e-05	0.0002	0.0001	3.364e-05	0.0002	0.0006	0.0096	0.0007	0.0006	0.0022	0.0005	0.0005	0.0012	0.0009	0.0001	0.0012	0.0010	0	0.0010	0.0004	0.0035	0.0008	0.0010	0.0022	0.61	0.05468	T	.	.	.	0.003	0.11197	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	4.4	0.02215	T	-0.24	0.10833	N	0.043	0.01577	-0.9024	0.47739	T	0.001	0.00222	T	9	0.015293419	0.00321	T	0.001376	0.01986	T	0.022	0.04323	0.063	0.00257	0.0666544352282	0.05500	0.010453316840408004	0.01006	.	.	0.21237513423	0.00916	T	0.01836	0.14816	T	-0.437997	0.01329	T	-0.866929	0.00772	T	0.0157041039026333	0.00362	T	0.221078	0.02846	T	0.019434154	0.00474	0.02615014	0.00689	0.019434154	0.00473	0.02615014	0.00689	-1.595	0.01970	T	.	.	0.069	0.03093	B	.	.	-1.585595	0.00247	0.004	0.3324786050692059	0.01970	0.00143	0.00871	N	AEFBI	0.017329	0.00447	N	-2.16345743713501	0.00092	0.003956945	-2.24016011655303	0.00091	0.003993062	0.149966739545292	0.17423	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.93	-7.86	0.01052	-4.573000	0.00246	.	.	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3589:0.1539:0.1205:0.3667	0.643	0.00761	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	4242.11	40	chr1	152309635	.	T	C	4242.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.79;DP=5481;ExcessHet=0.1072;FS=0.751;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.85;MQRankSum=-1.750e+01;QD=3.63;ReadPosRankSum=-5.168e+00;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:467,98:565:99:0|1:152309616_T_C:2710,0,18777:152309616	19	0	2	0
chr1	152310577	152310577	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C4309T:p.R1437C,	Ichthyosis vulgaris, Autosomal dominant	.	0	1487	32	2	1	37	0.0119601	.	.	904369	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.635	P	.	.	1.000	N	2.39	M	4.65	T	-0.953	T	0.005	T	0.201	1.017	9.153	-0.934	0.063	-0.272	3.196	0.040	.	0.0043	0.00479233	0.0050	0.0008	0.0055	0.0001	0.0014	0.0062	0.0044	0.0061	0.0049353	763	154602	rs12750571	0.0060	0.0060	0.0058	0.0061	0.0248	0.0058	0.0058	0.0215	0.0202	0.0012	0.0051	0.0034	0.0001	0.0014	0.0248	0.0064	0.0063	0.0068	0.0048	0.0048	0.0049	0.0046	0.0070	0.0045	0.0044	0.0065	0.0063	0.0012	0.0264	0.0061	0.0046	0.0002	0.0014	0.0306	0.0070	0.0048	0.0064	0.014	0.53172	D	.	.	.	0.999	0.77913	D	0.635	0.51908	P	.	.	.	.	1	0.08975	N	2.86	0.83026	M	4.65	0.01779	T	-1.23	0.31170	N	0.266	0.30118	-0.9528	0.40485	T	0.005	0.01578	T	9	0.008905023	0.00202	T	.	.	.	0.040	0.10527	.	.	0.278968121808	0.27521	0.015595421109007294	0.01515	.	.	0.213625520468	0.00975	T	0.089724	0.38434	T	-0.578702	0.00196	T	-0.598915	0.12902	T	0.0278192646706579	0.01662	T	0.649435	0.26018	T	0.08136459	0.18690	0.043253686	0.05338	0.08136459	0.18690	0.043253686	0.05338	-10.485	0.76761	D	.	.	0.129	0.27553	B	.	.	1.880204	0.23884	16.19	0.97162728186922065	0.32638	0.01478	0.04921	N	AEFDBI	0.040004	0.05890	N	-0.569226267034253	0.19884	1.044184	-0.851837246202194	0.13244	0.6859478	1.30223998648331E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.84	-0.934	0.09897	0.417000	0.20934	.	.	-0.310000	0.06091	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1466:0.0:0.399:0.4544	3.196	0.06240	586	0.69252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	12148.11	40	chr1	152310577	.	G	A	12148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=7.65;DP=5026;ExcessHet=0.1072;FS=0.523;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.925;QD=13.25;ReadPosRankSum=-1.053e+00;SOR=0.626	GT:AD:DP:GQ:PL	0/1:233,226:459:99:6066,0,5805	19	0	2	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:84,37:125:99:104,0,1210	6	0	15	0
chr1	153934206	153934206	C	T	exonic	DENND4B	.	nonsynonymous SNV	DENND4B:NM_001367466:exon19:c.G2903A:p.R968H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.865	P	0.124	B	0.071	N	0.924	N	0.695	N	3.21	T	-0.931	T	0.005	T	0.346	3.528	18.01	3.76	1.184	1.157	6.931	0.052	0.0123096124786	.	.	1.416e-05	0	0	0	0	2.535e-05	0	0	6.5e-06	1	154602	rs766648377	6.19e-06	6.84e-06	5.473e-06	6.914e-06	3.027e-05	2.91e-06	2.11e-06	3.1e-06	2.24e-06	3.027e-05	0	0	0	0	0	7.213e-06	0	0	6.573e-06	6.566e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.02	0.49613	D	0.137	0.33894	T	0.865	0.47557	P	0.124	0.32546	B	0.071219	0.21488	N	0.483423	0.924377	0.27217	N	1.61	0.41143	L	3.21	0.07125	T	-0.28	0.15379	N	0.333	0.37405	-0.9313	0.43948	T	0.005	0.01578	T	10	0.12379414	0.23504	T	0.01231	0.30768	T	0.052	0.14661	0.284	0.24121	0.0934897674506	0.08844	0.2966370885961981	0.29576	0.606248581331	0.55478	0.608504772186	0.54105	T	0.009375	0.08542	T	-0.188108	0.22537	T	-0.50798	0.21524	T	0.514837145661201	0.33175	D	0.868913	0.59649	D	0.045718558	0.07531	0.034834143	0.02622	0.045718558	0.07531	0.034834143	0.02621	-5.601	0.42801	T	.	.	0.086	0.13876	B	.;.	.;.	5.186301	0.86974	29.1	0.99924301608528843	0.98980	0.56161	0.30046	D	AEFDBI	0.086113	0.17458	N	-0.0173852028305006	0.41068	2.44999	0.0587231380129952	0.42494	2.571301	0.991986046175707	0.32678	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.67	3.76	0.42368	0.833000	0.27157	7.597000	0.61435	0.599000	0.40250	0.973000	0.34540	1.000000	0.68203	0.995000	0.73285	0.0:0.7976:0.0:0.2024	6.931	0.23621	49	0.97662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	633.98	34	chr1	153934206	.	C	T	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.83;ReadPosRankSum=-4.730e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:52,29:81:99:648,0,1234	20	0	1	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	3/4:1,0,0,21,13,0,0:35:99:1561,1474,1499,1474,1499,1499,487,530,530,449,843,888,888,0,832,1474,1499,1499,530,888,1499,1474,1499,1499,530,888,1499,1499	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	3/4:1,0,0,21,13,0,0:35:99:1561,1474,1499,1474,1499,1499,487,530,530,449,843,888,888,0,832,1474,1499,1499,530,888,1499,1474,1499,1499,530,888,1499,1499	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	3/4:1,0,0,21,13,0,0:35:99:1561,1474,1499,1474,1499,1499,487,530,530,449,843,888,888,0,832,1474,1499,1499,530,888,1499,1474,1499,1499,530,888,1499,1499	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	3/4:1,0,0,21,13,0,0:35:99:1561,1474,1499,1474,1499,1499,487,530,530,449,843,888,888,0,832,1474,1499,1499,530,888,1499,1474,1499,1499,530,888,1499,1499	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	3/4:1,0,0,21,13,0,0:35:99:1561,1474,1499,1474,1499,1499,487,530,530,449,843,888,888,0,832,1474,1499,1499,530,888,1499,1474,1499,1499,530,888,1499,1499	0	1	0	0
chr1	154961821	154961821	A	G	exonic	LOC101928120	.	nonsynonymous SNV	LOC101928120:NM_001321726:exon1:c.A209G:p.E70G,	.	.	672	843	4	3	0	10	0.00589623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs767231832	0.0026	0.0017	0.0026	0.0026	0.0077	0.0024	0.0023	0.0040	0.0030	0.0010	0.0018	0.0149	5.021e-05	0.0002	0.0077	0.0026	0.0025	0.0019	0.0020	0.0020	0.0019	0.0022	0.0044	0.0018	0.0018	0.0029	0.0025	0.0005	0	0.0020	0.0124	0	9.479e-05	0	0.0027	0.0047	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2252.98	34	chr1	154961821	.	A	G	2252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.597e+00;DP=903;ExcessHet=0.0000;FS=0.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=1.35;SOR=0.783	GT:AD:DP:GQ:PL	0/1:78,103:181:99:2267,0,1848	20	0	1	0
chr1	155043442	155043442	C	G	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_001143687:exon9:c.C1030G:p.R344G	.	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.611	P	0.077	B	0.002	N	0.982	N	1.1	L	1.87	T	-1.041	T	0.018	T	0.366	0.620	7.334	3.05	0.855	0.606	7.825	0.071	.	7.7e-05	0.00479233	0.0027	9.848e-05	8.673e-05	0.0095	0.0002	0.0002	0.0011	0.0140	0.0023932	370	154602	rs141437613	0.0011	0.0011	0.0007	0.0015	0.0130	0.0010	0.0010	0.0124	0.0122	5.977e-05	4.483e-05	0.0009	0.0043	0.0001	0.0007	0.0001	0.0016	0.0130	0.0009	0.0009	0.0006	0.0013	0.0122	0.0008	0.0008	0.0097	0.0088	4.816e-05	0	6.537e-05	0.0023	0.0114	0.0002	0	0.0001	0	0.0122	0.333	0.13262	T	0.328	0.18846	T	0.208	0.29916	B	0.026	0.20792	B	0.002040	0.00853	N	3.876800	0.982185	0.24983	N	2.19	0.61577	M	1.86	0.24472	T	-2.44	0.54382	N	0.448	0.48596	-1.0414	0.16890	T	0.018	0.07329	T	10	0.0069132745	0.00157	T	.	.	.	0.071	0.20720	.	.	0.250579442822	0.24687	0.3614573615860244	0.36059	0.204685920669	0.22888	0.199973553419	0.00456	T	0.202445	0.56062	T	-0.500187	0.00570	T	-0.47698	0.24768	T	0.026407611417067	0.01461	T	0.737626	0.35462	T	0.0868855	0.20210	0.11649379	0.28123	0.0868855	0.20210	0.11649379	0.28122	-3.89	0.22152	T	.	.	0.091	0.17402	B	.;.;.	.;.;.	2.444052	0.31461	18.75	0.96758696166642133	0.30990	0.27419	0.23272	N	AEFDBHCI	0.173282	0.30036	N	-0.470962682313579	0.23036	1.234217	-0.427702939206982	0.24188	1.323162	0.999999999914485	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.99	3.05	0.34272	0.456000	0.21572	1.733000	0.28342	0.549000	0.26987	0.183000	0.24101	0.004000	0.18990	0.829000	0.39076	0.0:0.8822:0.0:0.1178	7.825	0.28471	228	0.91137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	593.98	35	chr1	155043442	.	C	G	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.617e+00;DP=758;ExcessHet=0.0000;FS=2.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=1.61;SOR=0.426	GT:AD:DP:GQ:PL	0/1:27,29:56:99:608,0,679	20	0	1	0
chr1	155068851	155068852	AG	-	splicing	EFNA4	NM_005227:exon4:r.spl	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1048.94	38	chr1	155068850	.	CAG	C	1048.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.717;DP=764;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.20;ReadPosRankSum=1.08;SOR=0.909	GT:AD:DP:GQ:PL	0/1:33,28:61:99:1063,0,1261	20	0	1	0
chr1	155188521	155188521	T	G	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001204285:exon4:c.A530C:p.N177T	Medullary cystic kidney disease 1, Autosomal dominant	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.132	B	0.059	B	0.008	N	1.000	N	0	N	2.24	T	-0.995	T	0.006	T	0.076	0.774	8.088	-2.04	-0.407	-0.791	4.728	0.016	.	.	0.00379393	0.0079	0	0	0	0	0	0.0063	0.0153	0.0010414	161	154602	rs1029131580	0.0009	0.0009	0.0005	0.0014	0.0154	0.0009	0.0009	0.0147	0.0144	0.0001	5.601e-05	0	8.396e-05	0	0.0009	4.635e-06	0.0010	0.0154	0.0005	0.0005	0.0003	0.0008	0.0164	0.0004	0.0004	0.0134	0.0123	4.914e-05	0	0	0	0	9.666e-05	0	0	0.0005	0.0164	.	.	.	0.301	0.36630	T	.	.	.	.	.	.	0.007628	0.01175	N	3.632500	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.095	0.07535	-0.9950	0.31299	T	0.006	0.02093	T	10	0.0025337338	0.00038	T	.	.	.	.	.	0.169	0.07419	0.0934897674506	0.08844	0.11134093437515433	0.11063	.	.	0.276891231537	0.07062	T	0.02764	0.20200	T	-0.64631	0.00076	T	-0.688832	0.06457	T	0.00327356611129953	0.00035	T	0.147285	0.02320	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.;.;.	.;.;.	0.267098	0.06449	2.924	0.71598477258151616	0.09683	0.08141	0.14106	N	AEFDBHCI	.	.	.	-1.27827101884753	0.03938	0.1768414	-1.3415864215063	0.03906	0.1831686	0.999975975034682	0.50053	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.3	-2.04	0.06937	-1.400000	0.02610	-4.445000	0.02153	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.2544:0.164:0.5816	4.728	0.12331	71	0.96981	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1009.98	34	chr1	155188521	.	T	G	1009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.438;SOR=0.685	GT:AD:DP:GQ:PL	0/1:50,38:88:99:1024,0,1265	20	0	1	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.87	P	0.000	D	1.000	D	2.555	M	.	.	-0.257	T	0.378	T	0.881	2.778	15.25	5.55	2.894	4.402	17.055	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	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	0.3929	2240.58	53	chr1	156011822	.	G	A,C	2240.58	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=-2.019e+00;DP=1509;ExcessHet=7.7275;FS=191.539;InbreedingCoeff=-0.5270;MLEAC=13,1;MLEAF=0.464,0.036;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=0.481;SOR=10.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,20,0:85:99:0|1:156011822_G_A:294,0,2050,488,2110,2598:156011822	3	0	10	7
chr1	156743839	156743839	C	T	exonic	HDGF	.	nonsynonymous SNV	HDGF:NM_001126050:exon5:c.G577A:p.G193R	.	.	399	1109	13	1	0	15	0.00671742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.622	P	0.157	B	0.184	U	0.985	N	1.04	L	1.92	T	-1.035	T	0.018	T	0.098	1.034	9.222	3.56	1.098	2.342	8.405	0.024	.	0.0004	0.00938498	0.0060	0.0017	0.0005	0.0012	0	3.014e-05	0.0034	0.0423	0.0051616	798	154602	rs73002716	0.0027	0.0027	0.0014	0.0039	0.0418	0.0026	0.0026	0.0407	0.0402	0.0015	0.0001	0	0.0011	0	0.0028	2.069e-05	0.0025	0.0418	0.0018	0.0018	0.0010	0.0027	0.0433	0.0016	0.0016	0.0385	0.0367	0.0014	0	0.0001	0	0.0006	0	0	2.94e-05	0.0005	0.0433	0.484	0.20154	T	0.152	0.40110	T	0.0	0.02946	B	0.001	0.04355	B	0.183759	0.17032	U	0.488989	0.994512	0.24711	N	0.755	0.19153	N	1.92	0.32722	T	-0.15	0.15578	N	0.143	0.15609	-1.0353	0.18762	T	0.018	0.07612	T	10	0.0023260415	0.00034	T	.	.	.	0.024	0.04979	0.186	0.09517	0.376570364461	0.37271	0.15704871913818222	0.15625	1.07742525153	0.77023	0.39216697216	0.23974	T	0.080118	0.36288	T	-0.599948	0.00146	T	-0.604573	0.12429	T	0.0205574199020793	0.00755	T	0.727127	0.34152	T	0.020746972	0.00644	0.03842232	0.03707	0.020746972	0.00644	0.03842232	0.03706	-4.71	0.33525	T	.	.	0.112	0.29670	B	.;.;.;.	.;.;.;.	3.304976	0.45390	22.1	0.85570904600086095	0.15976	0.87681	0.47302	D	AEFDBCI	0.333795	0.43277	N	-0.355671148130692	0.27065	1.481947	-0.231264511611906	0.30423	1.712775	0.999998540497223	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.48	3.56	0.39892	2.510000	0.45129	4.755000	0.44682	0.596000	0.33519	0.902000	0.31475	1.000000	0.68203	0.991000	0.66497	0.0:0.8919:0.0:0.1081	8.405	0.31773	511	0.75131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	647.98	40	chr1	156743839	.	C	T	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.468;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=1.62;SOR=0.793	GT:AD:DP:GQ:PL	0/1:26,25:51:99:662,0,650	20	0	1	0
chr1	161160954	161160954	G	T	exonic	USP21	.	nonsynonymous SNV	USP21:NM_001319847:exon2:c.G401T:p.R134L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.789	P	0.17	B	0.768	N	0.855	D	0.345	N	0.92	T	-1.014	T	0.041	T	0.905	2.762	15.20	5.14	2.666	4.050	17.538	0.135	0.0055180553161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.789	0.44570	P	0.17	0.35299	B	0.768478	0.09566	N	0.855782	0.855411	0.35294	D	0.345	0.11182	N	0.92	0.44461	T	-0.99	0.26200	N	0.776	0.77319	-1.0145	0.25497	T	0.041	0.17827	T	10	0.23797894	0.40910	T	0.005518	0.14227	T	0.135	0.36572	0.257	0.19845	0.606161550005	0.60300	0.3236029498988008	0.32273	0.134947152804	0.15209	0.669573485851	0.62778	T	0.013005	0.33645	T	0.185623	0.72560	D	0.0288587	0.72203	D	0.339686769744436	0.26611	T	0.824018	0.48536	T	0.30283454	0.53157	0.27275297	0.53188	0.30283454	0.53157	0.27275297	0.53187	-6.588	0.51546	T	.	.	0.245	0.62440	B	.;.;.;.;.	.;.;.;.;.	4.074147	0.60556	24.2	0.99695368283428076	0.80248	0.92530	0.55928	D	AEFDBI	0.558452	0.56767	D	0.130962780523355	0.47911	3.010327	0.233296311175239	0.51704	3.350701	0.999999999807534	0.74766	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.14	5.14	0.70008	2.384000	0.44017	10.015000	0.83111	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	17.538	0.87736	300	0.87974	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2658.98	35	chr1	161160954	.	G	T	2658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.540e-01;DP=938;ExcessHet=0.0000;FS=0.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-2.050e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:104,109:213:99:2673,0,2487	20	0	1	0
chr1	165544698	165544698	C	G	exonic	LRRC52	.	nonsynonymous SNV	LRRC52:NM_001005214:exon1:c.C402G:p.N134K,	.	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.834	P	0.459	P	0.000	D	0.527	N	0.755	N	0.32	T	-1.061	T	0.076	T	0.22	2.561	14.52	2.75	0.741	2.095	10.052	0.145	0.0123735985722	0.0008	0.000199681	0.0008	0.0004	8.637e-05	0	0	0.0010	0.0033	0.0015	0.0008926	138	154602	rs138107763	0.0014	0.0014	0.0014	0.0014	0.0020	0.0013	0.0013	0.0018	0.0017	0.0002	0.0001	3.826e-05	0	0	0.0002	0.0016	0.0009	0.0020	0.0009	0.0009	0.0009	0.0009	0.0021	0.0008	0.0007	0.0014	0.0013	0.0003	0	0.0001	0	0	0	0.0034	0.0016	0	0.0021	0.035	0.43708	D	0.057	0.46406	T	0.834	0.46206	P	0.459	0.46380	P	0.000005	0.62929	D	0.137948	0.993887	0.42086	D	1.655	0.42436	L	0.32	0.58468	T	-3.39	0.66896	D	0.416	0.45615	-1.0611	0.11483	T	0.076	0.30429	T	9	0.05193326	0.05149	T	0.012374	0.30882	T	0.145	0.38592	0.566	0.68768	0.854770896266	0.85337	0.5152294145550415	0.51445	0.27918584819	0.30399	0.470459967852	0.34744	T	0.120739	0.44319	T	-0.425524	0.01578	T	-0.40864	0.32382	T	0.0442984511568608	0.04475	T	0.689231	0.29860	T	0.4510049	0.64105	0.54957724	0.73958	0.4510049	0.64105	0.54957724	0.73958	-6.706	0.51855	T	.	.	0.352	0.56690	A	.	.	3.357087	0.46327	22.3	0.99523159250617355	0.69407	0.93555	0.58537	D	AEFBI	0.503181	0.53528	D	0.0840548968266859	0.45721	2.82382	0.141862770645191	0.46712	2.912809	0.590530400759296	0.21643	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	5.68	2.75	0.31439	2.370000	0.43893	1.070000	0.23796	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7692:0.0:0.2308	10.052	0.41394	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	8227.11	36	chr1	165544698	.	C	G	8227.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.11;DP=1402;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.099e+00;SOR=0.729	GT:AD:DP:GQ:PL	0/1:226,163:389:99:4313,0,6103	19	0	2	0
chr1	167128343	167128343	T	A	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon6:c.T3212A:p.V1071E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.01	B	0.005	B	0.047	N	0.927	N	1.6	L	4.0	T	-0.931	T	0.004	T	0.314	1.764	11.86	1.24	0.796	0.099	5.379	0.051	0.00672813327107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.321	0.19073	T	0.01	0.15535	B	0.005	0.11217	B	0.047075	0.23379	N	0.304706	0.927278	0.27148	N	2.48	0.72069	M	4.0	0.03239	T	-0.27	0.11366	N	0.376	0.50868	-0.9308	0.44021	T	0.004	0.01261	T	10	0.04312238	0.03129	T	0.006728	0.17784	T	0.051	0.14325	0.14	0.04369	0.292787519742	0.28880	0.1372316359330687	0.13647	0.140737400101	0.15877	0.466587662697	0.34212	T	0.00125	0.00742	T	-0.21357	0.18879	T	-0.544555	0.17852	T	0.133664503693581	0.15716	T	0.610139	0.23115	T	0.1448486	0.33230	0.16197994	0.37650	0.1448486	0.33229	0.16197994	0.37649	-0.044	0.00365	T	.	.	0.095	0.16099	B	.;.;.	.;.;.	1.605474	0.20521	14.79	0.96950551279895958	0.31735	0.03725	0.09017	N	AEFDBI	0.050532	0.08842	N	-0.557773413059119	0.20241	1.06555	-0.499334965718341	0.22172	1.203002	0.329989738516497	0.19475	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	1.24	0.20416	0.287000	0.18678	0.150000	0.15280	0.654000	0.53741	0.009000	0.18154	0.209000	0.23629	0.991000	0.66497	0.4911:0.0865:0.0:0.4224	5.379	0.15483	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1349.98	34	chr1	167128343	.	T	A	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.320e-01;DP=1377;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.458;SOR=0.753	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1364,0,1719	20	0	1	0
chr1	169842501	169842501	G	A	exonic	C1orf112	.	nonsynonymous SNV	C1orf112:NM_001366773:exon16:c.G841A:p.V281I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.004	B	0.01	B	0.093	N	0.990	D	0.28	N	1.18	T	-1.054	T	0.020	T	0.094	1.564	11.18	3.29	1.313	0.286	8.758	0.025	0.00320975940986	.	.	8.24e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs760646657	3.421e-06	3.42e-06	0	6.876e-06	4.638e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	0.632	0.09393	T	0.004	0.12183	B	0.01	0.14941	B	0.093153	0.20238	N	0.549745	0.999331	0.21346	N	0.945	0.23706	L	1.18	0.37746	T	-0.04	0.07590	N	0.095	0.08646	-1.0539	0.13332	T	0.020	0.08453	T	10	0.04478517	0.03475	T	0.00321	0.07057	T	0.025	0.05312	0.168	0.07302	0.1749357433	0.17121	0.04733586531245251	0.04676	0.0561614499495	0.06201	.	.	.	0.009266	0.08447	T	-0.332975	0.05890	T	-0.619218	0.11246	T	0.0811485332667738	0.10134	T	0.620638	0.24459	T	0.015807645	0.00159	0.022802401	0.00298	0.015807645	0.00158	0.022802401	0.00298	-3.721	0.22377	T	.	.	0.093	0.15296	B	.;.;.	.;.;.	2.226056	0.28409	17.79	0.94923913931391291	0.25800	0.12033	0.17018	N	AEFBI	0.036723	0.04940	N	-0.596639725689507	0.19047	0.9937844	-0.450288979926815	0.23541	1.284296	5.57829453628209E-4	0.07304	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.18	3.29	0.36801	0.352000	0.19851	0.670000	0.20585	0.676000	0.76740	0.158000	0.23769	0.001000	0.17328	0.841000	0.39698	0.1765:0.0:0.8235:0.0	8.758	0.33814	488	0.76887	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1054.98	33	chr1	169842501	.	G	A	1054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.835;DP=763;ExcessHet=0.0000;FS=4.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=1.28;SOR=0.443	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1069,0,775	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:36,0,50:86:99:1|0:175160788_C_CCTT:1811,1920,3426,0,1506,1355:175160788	2	5	6	0
chr1	182952860	182952860	-	CTC	exonic	SHCBP1L	.	nonframeshift insertion	SHCBP1L:NM_030933:exon1:c.273_274insGAG:p.E91_P92insE,	.	.	263	1232	25	2	0	29	0.0116326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0431	.	0.0022	0.0033	0.0036	0	0	0.0005	0.0084	0.0077	0.0001537	4	26028	rs566172305	0.0010	0.0010	0.0008	0.0012	0.0083	0.0010	0.0009	0.0078	0.0076	3.022e-05	0.0023	0	0	1.963e-05	0.0037	0.0005	0.0012	0.0083	0.0009	0.0009	0.0007	0.0010	0.0054	0.0007	0.0007	0.0038	0.0032	0.0002	0	0.0028	0	0.0002	0	0	0.0007	0.0014	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2615.07	33	chr1	182952860	.	G	GCTC	2615.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.43;DP=834;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.14;ReadPosRankSum=1.13;SOR=0.653	GT:AD:DP:GQ:PL	0/1:40,29:69:99:1056,0,1370	19	0	2	0
chr1	183207997	183207997	G	A	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon2:c.G196A:p.E66K	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	YES	1	1506	15	0	0	15	0.0049554	.	.	192407	Junctional_epidermolysis_bullosa|Junctional_epidermolysis_bullosa,_non-Herlitz_type|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.97	H	-0.14	T	0.466	D	0.582	D	0.732	4.182	21.7	3.89	1.011	7.351	14.87	0.504	0.0695001038102	0.0012	0.000399361	0.0013	9.61e-05	0.0008	0	0.0002	0.0016	0	0.0025	0.0012484	193	154602	rs146325169	0.0016	0.0016	0.0015	0.0016	0.0035	0.0015	0.0015	0.0024	0.0023	0.0003	0.0011	0.0011	0	0.0002	0.0035	0.0017	0.0012	0.0026	0.0012	0.0012	0.0011	0.0012	0.0025	0.0010	0.0010	0.0019	0.0016	0.0004	0	0.0025	0.0006	0	0	0.0034	0.0017	0.0014	0.0019	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	4.475	0.98900	H	-0.14	0.65006	T	-3.85	0.72932	D	0.721	0.72299	0.466	0.90067	D	0.582	0.84968	D	10	0.13219815	0.25161	T	0.070	0.70747	D	0.504	0.78600	.	.	0.823513027696	0.82184	0.8431487161829182	0.84275	0.533294624211	0.50767	0.529933571815	0.43025	T	0.458358	0.79637	T	-0.108989	0.34934	T	0.0660536	0.74647	D	0.198354672269882	0.20325	T	0.948505	0.80271	D	0.7870252	0.83088	0.76312983	0.86006	0.7685657	0.81964	0.70156354	0.82415	-13.147	0.89959	D	0.6873950157316275	0.76465	0.371	0.57896	A	.;.	.;.	4.970492	0.82252	27.7	0.99932501957676223	0.99439	0.97344	0.74157	D	AEFBI	0.911594	0.87107	D	0.760789460467392	0.83606	8.061597	0.601091658765851	0.75021	6.237097	0.999998505535972	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.81	3.89	0.44098	7.665000	0.82824	9.810000	0.81742	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.1442:0.8558:0.0	14.87	0.70087	482	0.77288	.;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1931.98	35	chr1	183207997	.	G	A	1931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=1085;ExcessHet=0.0000;FS=2.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=2.83;SOR=0.762	GT:AD:DP:GQ:PL	0/1:112,81:193:99:1946,0,2671	20	0	1	0
chr1	201387170	201387170	C	T	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.G191A:p.S64N,	.	.	416	1094	12	0	0	12	0.00545455	.	.	696381	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.996	D	0.001	N	0.908	D	2.075	M	2.33	T	-0.895	T	0.106	T	0.12	2.607	14.68	4.91	2.254	1.546	13.593	0.126	0.010655477065	0.0011	0.00199681	0.0019	0	0.0013	0	0.0002	0.0024	0.0013	0.0042	0.0018111	280	154602	rs143280381	0.0013	0.0013	0.0012	0.0014	0.0095	0.0012	0.0012	0.0074	0.0066	0.0002	0.0016	0.0135	0	0.0002	0.0095	0.0009	0.0022	0.0030	0.0012	0.0012	0.0012	0.0013	0.0033	0.0011	0.0010	0.0021	0.0017	0.0002	0	0.0005	0.0153	0	0.0002	0	0.0015	0.0009	0.0033	0.0	0.91255	D	0.031	0.70582	D	0.999	0.77913	D	0.982	0.84481	D	0.001107	0.40219	N	0.235599	0.908114	0.36340	D	2.54	0.74080	M	2.33	0.16794	T	-2.2	0.50337	N	0.325	0.36569	-0.8954	0.48446	T	0.106	0.38587	T	10	0.006062001	0.00136	T	0.010655	0.27430	T	0.126	0.34673	.	.	0.104622674875	0.10061	0.039214810868750394	0.03867	0.497447347806	0.48245	0.466643422842	0.34221	T	0.208963	0.56904	T	-0.527928	0.00395	T	-0.531389	0.19147	T	0.135137468576431	0.15849	T	0.740126	0.37414	T	0.27455127	0.50520	0.28137487	0.54119	0.27455127	0.50520	0.28137487	0.54118	-6.291	0.48650	T	.	.	0.273	0.63329	B	.;.;.;.;.	.;.;.;.;.	2.640700	0.34361	19.61	0.99229407829368932	0.56183	0.34538	0.25091	N	AEFDBI	0.158150	0.28376	N	0.171522803344348	0.49836	3.179601	0.00945469408973119	0.40153	2.391793	0.999999912274535	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.91	4.91	0.63897	3.074000	0.49763	2.128000	0.30762	0.545000	0.25583	0.417000	0.26305	0.944000	0.28851	0.031000	0.13245	0.0:1.0:0.0:0.0	13.593	0.61435	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	865.98	33	chr1	201387170	.	C	T	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.487;DP=840;ExcessHet=0.0000;FS=2.940;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-4.790e-01;SOR=0.530	GT:AD:DP:GQ:PL	0/1:44,37:81:99:880,0,1052	20	0	1	0
chr1	206203947	206203947	T	C	exonic	FAM72A	.	nonsynonymous SNV	FAM72A:NM_001317901:exon1:c.A49G:p.R17G	.	.	913	596	6	7	0	20	0.0165017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782683246	0.0082	0.0078	0.0076	0.0089	0.0296	0.0081	0.0080	0.0252	0.0236	0.0012	0.0059	0.0119	0.0236	0.0149	0.0296	0.0063	0.0092	0.0239	0.0065	0.0067	0.0061	0.0071	0.0190	0.0062	0.0061	0.0157	0.0144	0.0012	0	0.0052	0.0095	0.0132	0.0139	0.0350	0.0074	0.0071	0.0190	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.23	0.36872	T	-0.06	0.07882	N	0.288	0.32591	.	.	.	.	.	.	.	0.00577268	0.00129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524448	0.17180	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.42706	B	.;.	.;.	0.716609	0.10854	7.533	.	.	.	.	.	.	0.053696	0.09698	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.236000	0.09019	-1.473000	0.05360	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	309.17	15	chr1	206203947	.	T	C	309.17	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.050e-01;DP=260;ExcessHet=0.1072;FS=3.188;InbreedingCoeff=-0.0525;MLEAC=2;MLEAF=0.048;MQ=30.05;MQRankSum=-1.042e+00;QD=11.89;ReadPosRankSum=1.54;SOR=2.584	GT:AD:DP:GQ:PL	0/1:5,5:10:99:131,0,175	19	0	2	0
chr1	207478015	207478015	G	C	exonic	CR2	.	nonsynonymous SNV	CR2:NM_001877:exon15:c.G2856C:p.Q952H	Immunodeficiency, common variable, 7, Autosomal recessive	.	0	1509	13	0	0	13	0.00428901	.	.	246872	Immunodeficiency,_common_variable,_7|Systemic_lupus_erythematosus,_susceptibility_to,_9|not_specified|not_provided	MONDO:MONDO:0013862,MedGen:C3542922,OMIM:614699,Orphanet:1572|MONDO:MONDO:0012584,MedGen:C1970455,OMIM:610927|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	1.0	D	0.999	D	.	.	0.986	D	2.275	M	-0.05	T	-0.422	T	0.382	T	0.679	2.477	14.24	4.66	2.646	1.785	10.895	0.286	0.0227344264987	0.0002	0.000399361	0.0008	0	0.0003	0.0005	0	0.0004	0.0011	0.0035	0.000608	94	154602	rs200182370	0.0005	0.0005	0.0004	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	5.975e-05	0.0004	3.826e-05	0.0001	0	0.0019	0.0003	0.0006	0.0042	0.0003	0.0003	0.0003	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	9.618e-05	0	0.0003	0	0.0010	0	0.0034	0.0003	0.0009	0.0031	0.033	0.44358	D	0.006	0.70582	D	0.991	0.90584	D	0.955	0.92359	D	.	.	.	.	0.985922	0.40354	D	2.475	0.71894	M	-0.05	0.63403	T	-1.78	0.49352	N	0.236	0.31140	-0.4222	0.71319	T	0.382	0.73840	T	9	0.011888295	0.00258	T	0.022734	0.45655	T	0.286	0.60456	0.353	0.35246	0.767594840966	0.76547	0.5676258320700016	0.56690	0.649045781387	0.58229	0.316136151552	0.12835	T	0.165666	0.51160	T	-0.225147	0.17296	T	-0.0963286	0.63681	T	0.082086470118924	0.10252	T	0.771723	0.40231	T	0.114595704	0.27052	0.15140781	0.35667	0.12290315	0.28870	0.16528288	0.38243	-7.071	0.54797	T	.	.	0.297	0.52720	B	.;.;.	.;.;.	3.658751	0.51965	23.2	0.99714582748263758	0.81563	0.85679	0.44838	D	AEFBI	0.282822	0.39606	N	0.490871214019063	0.66556	4.965378	0.433754922745771	0.63681	4.606718	0.339752204421242	0.19571	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.530356	0.10902	0	.	.	5.59	4.66	0.57857	2.195000	0.42310	5.862000	0.50443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0894:0.0:0.9106:0.0	10.895	0.46226	812	0.42537	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1453.98	33	chr1	207478015	.	G	C	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.543e+00;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=0.219;SOR=0.749	GT:AD:DP:GQ:PL	0/1:45,58:103:99:1468,0,1216	20	0	1	0
chr1	213242000	213242000	G	A	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001349663:exon6:c.G1129A:p.E377K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.921	P	0.363	B	0.004	N	0.978	D	1.7	L	1.5	T	-0.864	T	0.154	T	0.38	3.458	17.72	5.91	2.793	4.687	20.299	0.147	0.00963835995748	.	.	2.477e-05	0	0	0	0	0	0.0011	0.0001	1.94e-05	3	154602	rs767069949	5.473e-06	5.472e-06	1.361e-06	9.627e-06	8.116e-05	2.36e-06	1.7e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.116e-05	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.468	0.18560	T	0.921	0.51088	P	0.36	0.43280	B	0.004320	0.33881	N	0.324761	0.960191	0.39461	D	2.095	0.58118	M	1.47	0.31987	T	-1.0	0.30762	N	0.176	0.38950	-0.8644	0.50944	T	0.154	0.48447	T	10	0.23164684	0.40143	T	0.009638	0.25199	T	0.147	0.38986	0.575	0.69957	0.637615816057	0.63463	0.625126221859132	0.62445	0.170945335344	0.19261	0.426912724972	0.28787	T	0.023376	0.17856	T	-0.235757	0.15894	T	-0.373771	0.36449	T	0.356748634394436	0.27282	T	0.960104	0.84924	D	0.17323036	0.38059	0.12457416	0.30026	0.17323036	0.38059	0.12457416	0.30025	-4.043	0.24743	T	.	.	0.151	0.38552	B	.;.;.;.;.;.	.;.;.;.;.;.	3.447750	0.47989	22.5	0.99812450384617946	0.89620	0.97832	0.77462	D	AEFBI	0.551861	0.56376	D	0.481922455794502	0.66034	4.898275	0.554189914341773	0.71687	5.693343	0.9999923282661	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.91	5.91	0.95240	3.973000	0.56552	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	20.299	0.98594	520	0.74355	Protein kinase domain;Protein kinase domain;Protein kinase domain;Protein kinase domain;Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1642.98	33	chr1	213242000	.	G	A	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.000e-03;DP=852;ExcessHet=0.0000;FS=3.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.097;SOR=0.629	GT:AD:DP:GQ:PL	0/1:87,61:148:99:1657,0,2495	20	0	1	0
chr1	219610162	219610162	A	G	exonic	ZC3H11B	.	nonsynonymous SNV	ZC3H11B:NM_001355457:exon2:c.T1901C:p.V634A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	203.02	29	chr1	219610162	.	A	G	203.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.35;DP=657;ExcessHet=0.0000;FS=12.355;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=30.62;MQRankSum=-2.035e+00;QD=4.61;ReadPosRankSum=-6.910e-01;SOR=0.010	GT:AD:DP:GQ:PL	0/1:33,11:44:99:217,0,1000	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.918	P	0.243	B	0.000	D	0.990	D	0.83	L	1.55	T	-1.120	T	0.056	T	0.262	3.544	18.08	5.73	2.861	6.815	20.260	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	372.12	113	chr1	220154029	.	G	C	372.12	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-2.626e+00;DP=1942;ExcessHet=7.7275;FS=214.208;InbreedingCoeff=-0.3437;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=-8.540e-01;SOR=12.523	GT:AD:DP:GQ:PL	0/1:68,28:105:12:12,0,846	10	0	11	0
chr1	222532076	222532076	T	G	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon6:c.A1613C:p.K538T,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.076	B	0.102	B	0.010	N	0.996	N	0.69	N	2.51	T	-1.005	T	0.016	T	0.136	2.140	13.11	1.43	-0.013	1.050	8.147	0.023	0.00576471121878	0.0038	0.00159744	0.0034	0.0005	0.0028	0	0	0.0044	0.0044	0.0044	0.0036545	565	154602	rs61748612	0.0050	0.0050	0.0049	0.0050	0.0057	0.0049	0.0049	0.0055	0.0055	0.0007	0.0033	0.0062	2.519e-05	9.366e-05	0.0024	0.0057	0.0048	0.0042	0.0032	0.0032	0.0035	0.0029	0.0050	0.0030	0.0029	0.0045	0.0044	0.0011	0.0033	0.0041	0.0049	0.0002	0	0.0034	0.0050	0.0043	0.0023	0.036	0.43393	D	0.142	0.33330	T	0.076	0.24253	B	0.102	0.30857	B	0.010127	0.30054	N	0.343348	0.995905	0.23169	N	0.575	0.15311	N	2.51	0.14284	T	-0.95	0.25332	N	0.213	0.23758	-1.0051	0.28427	T	0.016	0.06711	T	10	0.0035643876	0.00064	T	0.005765	0.14952	T	0.023	0.04649	.	.	0.107399877778	0.10242	0.5504523881218438	0.54971	0.270996954512	0.29621	0.36912342906	0.20706	T	0.001448	0.00900	T	-0.628995	0.00097	T	-0.670311	0.07589	T	0.00483448423878433	0.00052	T	0.771723	0.40231	T	0.0796609	0.18211	0.063856006	0.12712	0.0796609	0.18211	0.063856006	0.12712	-9.015	0.67794	D	.	.	0.127	0.26855	B	.	.	2.409530	0.30968	18.60	0.9897614934532073	0.49640	0.30019	0.23974	N	AEFBI	0.247364	0.36796	N	-0.763487275450783	0.14269	0.7094367	-0.680934163632822	0.17437	0.9272225	3.59747157183206E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	1.43	0.21585	1.094000	0.30563	1.901000	0.29582	-0.201000	0.08892	0.001000	0.13787	1.000000	0.68203	0.994000	0.71098	0.0:0.3111:0.0:0.6889	8.147	0.30278	913	0.21160	Glucose/Sorbosone dehydrogenase	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	314.98	37	chr1	222532076	.	T	G	314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.696e+00;DP=710;ExcessHet=0.0000;FS=5.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.051;SOR=0.187	GT:AD:DP:GQ:PL	0/1:21,14:35:99:329,0,623	20	0	1	0
chr1	222558709	222558709	C	T	exonic	TAF1A	.	nonsynonymous SNV	TAF1A:NM_139352:exon10:c.G962A:p.R321Q	.	.	649	866	6	1	0	8	0.0045977	.	.	707108	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.48	T	0.012	B	0.005	B	0.720	N	0.947	D	0.68	N	0.95	T	-1.023	T	0.039	T	0.087	1.445	10.77	-3.51	-0.257	-1.046	7.069	0.021	.	0.0057	0.00399361	0.0063	0.0012	0.0050	0.0001	0.0002	0.0088	0.0033	0.0057	0.0063195	977	154602	rs143557200	0.0078	0.0080	0.0077	0.0079	0.0090	0.0077	0.0077	0.0088	0.0087	0.0012	0.0051	0.0097	5.135e-05	0.0003	0.0052	0.0090	0.0075	0.0050	0.0055	0.0055	0.0059	0.0050	0.0083	0.0052	0.0050	0.0077	0.0075	0.0020	0.0186	0.0072	0.0069	0.0002	0	0	0.0083	0.0081	0.0031	0.264	0.16358	T	0.447	0.13066	T	0.012	0.16265	B	0.005	0.11217	B	0.720352	0.09940	N	0.878450	0.996506	0.22994	N	0.465	0.13073	N	0.95	0.43279	T	-0.21	0.10308	N	0.085	0.06190	-1.0230	0.22736	T	0.039	0.16806	T	10	0.0024210513	0.00036	T	.	.	.	0.021	0.04004	.	.	0.146414634003	0.14194	0.0830712315295656	0.08242	0.29759780945	0.32142	0.214307755232	0.01007	T	0.003568	0.02980	T	-0.645776	0.00077	T	-0.690001	0.06389	T	0.00483677018932029	0.00052	T	0.682032	0.30590	T	0.030386215	0.02693	0.035775885	0.02892	0.030386215	0.02692	0.035775885	0.02892	-3.785	0.20581	T	.	.	0.078	0.08176	B	.;.;.	.;.;.	0.897230	0.12713	9.231	0.90112850717263859	0.19394	0.01409	0.04766	N	AEFBI	0.025925	0.01857	N	-1.09384815874175	0.06755	0.3119081	-1.04005502980822	0.08915	0.4407615	0.00803835386100511	0.11597	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.34	-3.51	0.04397	-1.059000	0.03589	-2.012000	0.04347	-0.313000	0.06017	0.039000	0.20931	0.000000	0.08366	0.984000	0.60418	0.0:0.2261:0.1415:0.6324	7.069	0.24346	922	0.19044	.;.;.	TAF1A|TAF1A|TAF1A|RP11-378J18.8	Colon_Sigmoid|Pancreas|Thyroid|Thyroid	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	679.98	41	chr1	222558709	.	C	T	679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.460e-01;DP=776;ExcessHet=0.0000;FS=1.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.09;ReadPosRankSum=0.087;SOR=0.488	GT:AD:DP:GQ:PL	0/1:50,34:84:99:694,0,1149	20	0	1	0
chr1	225353859	225353859	-	GG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11590_11591insGG:p.K3864Rfs*12,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	273.74	68	chr1	225353859	.	A	AGG,*	273.74	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.776e+00;DP=974;ExcessHet=0.1128;FS=176.894;InbreedingCoeff=0.0918;MLEAC=1,1;MLEAF=0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.74;ReadPosRankSum=2.02;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,23,0:78:99:0|1:225353859_A_AGG:287,0,1705,450,1773,2223:225353859	17	0	1	2
chr1	225353859	225353859	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	273.74	68	chr1	225353859	.	A	AGG,*	273.74	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.776e+00;DP=974;ExcessHet=0.1128;FS=176.894;InbreedingCoeff=0.0918;MLEAC=1,1;MLEAF=0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.74;ReadPosRankSum=2.02;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,23,0:78:99:0|1:225353859_A_AGG:287,0,1705,450,1773,2223:225353859	17	0	1	2
chr1	225353860	225353860	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11591G:p.K3864R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.112	B	0.061	B	.	.	1.000	D	.	.	3.13	T	-0.960	T	0.017	T	0.139	2.173	13.22	4.96	1.975	1.458	12.415	0.042	0.0424221383888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0016	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	6.329e-05	0	0.0004	0.0005	0	0.0003	0.0002	6.899e-05	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.086	0.40909	T	0.112	0.26290	B	0.061	0.26820	B	.	.	.	.	1	0.81001	D	.	.	.	3.13	0.08014	T	-1.32	0.32991	N	0.141	0.17140	-0.9601	0.39162	T	0.017	0.06759	T	8	0.075534165	0.11687	T	0.042422	0.60457	D	0.042	0.11227	0.473	0.54859	0.233150807113	0.22925	.	.	.	.	0.547701478004	0.45533	T	.	.	.	-0.290318	0.09604	T	-0.654798	0.08622	T	0.429603158532435	0.30046	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	-5.073	0.37622	T	.	.	.	.	.	.;.	.;.	2.621798	0.34075	19.52	0.98831738548241499	0.46969	0.78159	0.38520	D	AEFI	0.292450	0.40332	N	-0.1412954714505	0.35606	2.047334	0.0119223341972131	0.40267	2.400417	0.496201815749716	0.20905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	1.434000	0.34567	3.589000	0.39183	0.709000	0.85303	0.997000	0.40164	0.992000	0.31684	0.992000	0.67800	1.0:0.0:0.0:0.0	12.415	0.54820	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:56,0,23,0:79:99:0|1:225353859_A_AGG:284,450,2230,0,1780,1712,450,2230,1780,2230:225353859	12	0	5	2
chr1	225353861	225353862	AC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11592_11593del:p.K3864Nfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:56,0,23,0:79:99:0|1:225353859_A_AGG:284,450,2230,0,1780,1712,450,2230,1780,2230:225353859	12	0	5	2
chr1	225353860	225353862	AAC	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:56,0,23,0:79:99:0|1:225353859_A_AGG:284,450,2230,0,1780,1712,450,2230,1780,2230:225353859	12	0	5	2
chr1	225353861	225353861	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	464.81	81	chr1	225353861	.	A	G,*	464.81	.	AC=5,2;AF=0.147,0.059;AN=34;BaseQRankSum=-1.464e+00;DP=1141;ExcessHet=2.7391;FS=185.320;InbreedingCoeff=-0.2299;MLEAC=5,2;MLEAF=0.147,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.83;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:56,0,23:79:99:0|1:225353859_A_AGG:284,450,2230,0,1780,1712:225353859	10	0	5	4
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.987	D	.	.	1.000	D	.	.	3.07	T	-1.168	T	0.067	T	0.206	3.493	17.86	4.96	2.441	4.553	15.452	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:56,0,0,23:79:99:0|1:225353859_A_AGG:284,450,2230,450,2230,2230,0,1780,1780,1712:225353859	12	0	5	1
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:56,0,0,23:79:99:0|1:225353859_A_AGG:284,450,2230,450,2230,2230,0,1780,1780,1712:225353859	12	0	5	1
chr1	225353862	225353862	C	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:56,0,0,23:79:99:0|1:225353859_A_AGG:284,450,2230,450,2230,2230,0,1780,1780,1712:225353859	12	0	5	1
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.97	D	0.003	N	1.000	D	1.995	M	1.96	T	0.348	D	0.643	D	0.677	4.366	23.0	5.21	2.430	8.082	18.735	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:57,25,0:82:54:54,0,865,213,929,1142	3	0	12	4
chr1	225514708	225514708	G	C	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995G:p.A332G	.	.	425	1069	28	0	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.97	D	0.003	N	1.000	D	2.545	M	1.97	T	0.305	D	0.679	D	0.661	4.523	24.4	5.21	2.430	8.082	18.735	0.251	0.134379640135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	9.689e-05	2.258e-05	3.953e-05	2.59e-05	0	0	0.0002	0.0001	7.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.183	0.39340	T	0.994	0.66517	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999496	0.58761	D	2.62	0.76659	M	-0.04	0.63240	T	-1.88	0.43906	N	0.603	0.62950	0.305	0.87637	D	0.679	0.88907	D	10	0.44018695	0.58051	T	0.13438	0.81681	D	0.251	0.56024	0.122	0.02867	0.652436559791	0.64954	0.11579549220610402	0.11507	0.929717523318	0.71774	0.644413113594	0.59191	T	0.218669	0.58146	T	0.124294	0.66801	D	-0.0592364	0.66386	T	0.932058036327362	0.59784	D	0.871513	0.63166	D	0.18916725	0.40447	0.18597509	0.41743	0.18916725	0.40446	0.18597509	0.41742	-9.88	0.74330	D	.	.	0.252	0.51900	B	.;.;.	.;.;.	4.037834	0.59751	24.1	0.99785765454140729	0.87219	0.99631	0.98164	D	AEFDBI	0.890935	0.82643	D	0.742122182897517	0.82390	7.750937	0.716777429846324	0.83653	8.078442	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:57,25,0:82:54:54,0,865,213,929,1142	3	0	12	4
chr1	227040235	227040235	C	T	exonic	CDC42BPA	.	nonsynonymous SNV	CDC42BPA:NM_001366010:exon22:c.G2906A:p.R969H	.	.	437	1081	3	1	0	5	0.00230734	0.0005	0.046	2816125	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.983	D	0.594	P	0.000	D	0.809	N	1.155	L	-1.85	D	-0.142	T	0.455	T	0.239	1.522	11.04	2.95	0.842	7.099	7.050	0.328	.	7.7e-05	0.00299521	0.0012	0	0.0003	0	0	0.0002	0.0045	0.0079	0.0010673	165	154602	rs140416725	0.0005	0.0005	0.0003	0.0007	0.0074	0.0005	0.0005	0.0069	0.0067	0	8.994e-05	3.859e-05	2.534e-05	1.877e-05	0.0014	3.497e-05	0.0005	0.0074	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	4.815e-05	0	6.545e-05	0	0	0	0	4.413e-05	0	0.0081	0.069	0.35537	T	0.095	0.39492	T	0.912	0.50421	P	0.493	0.47443	P	0.000059	0.53742	D	0.201014	0.574833	0.34608	D	1.265	0.31966	L	-1.85	0.84267	D	-0.13	0.13418	N	0.246	0.27792	-0.1417	0.79123	T	0.455	0.78778	T	10	0.006477922	0.00147	T	.	.	.	0.328	0.65026	.	.	0.705812128141	0.70325	0.19887948948461712	0.19804	0.292371504754	0.31654	0.437198847532	0.30194	T	0.038257	0.24774	T	-0.312651	0.07517	T	-0.216891	0.53035	T	0.105049150912904	0.12903	T	0.860314	0.64352	D	0.03059724	0.02750	0.040569793	0.04416	0.03059724	0.02750	0.040569793	0.04415	-3.739	0.21824	T	.	.	0.115	0.23113	B	.;.;.;.;.	.;.;.;.;.	4.902894	0.80603	27.4	0.95771741374436237	0.27778	0.95968	0.66939	D	AEFBI	0.907588	0.86181	D	-0.176825180499187	0.34101	1.942431	-0.103039637690081	0.35268	2.038363	0.0260203093278885	0.13685	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.88	2.95	0.33285	7.212000	0.77445	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.4878:0.3321:0.18	7.050	0.24244	721	0.55360	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1092.98	35	chr1	227040235	.	C	T	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-6.040e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1107,0,1312	20	0	1	0
chr1	228338338	228338338	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon68:c.G17050A:p.A5684T	.	.	1	1520	0	1	0	2	0.000657462	.	.	1834400	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.617	P	0.173	B	0.054	N	0.866	N	0.55	N	0.55	T	-1.057	T	0.070	T	0.282	2.699	14.98	2.62	2.383	2.003	7.165	0.053	0.0236001773145	.	.	0.0003	0.0002	0	0	0	0.0001	0	0.0016	0.0001617	25	154602	rs763742491	7.074e-05	7.73e-05	3.823e-05	0.0001	0.0011	5.937e-05	5.544e-05	0.0009	0.0008	0	0	0	0	0	0	7.211e-06	8.307e-05	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26085	T	0.165	0.37310	T	0.617	0.39849	P	0.173	0.35463	B	0.054303	0.22735	N	0.416497	0.981872	0.28285	N	1.39	0.34934	L	0.42	0.62318	T	-1.74	0.42191	N	0.157	0.16308	-1.0572	0.12465	T	0.070	0.28544	T	10	0.027658284	0.00909	T	0.024	0.46567	T	0.074	0.21613	0.166	0.07071	0.710190255469	0.70766	0.09459042643743366	0.09391	0.407052637198	0.41573	0.36315074563	0.19844	T	0.046655	0.27488	T	-0.391561	0.02628	T	-0.385668	0.35058	T	0.0470304789788696	0.04971	T	0.829117	0.50357	T	0.050614577	0.09171	0.066891454	0.13764	0.050614577	0.09171	0.066891454	0.13764	-5.614	0.44250	T	.	.	0.083	0.08997	B	.;.;.;.;.	.;.;.;.;.	2.537743	0.32823	19.16	0.92069689879047056	0.21415	0.91921	0.54552	D	AEFDBI	0.191279	0.31848	N	-0.0637202448820018	0.38991	2.292345	-0.0300093706899594	0.38365	2.25935	0.00418787158882899	0.10449	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.59	2.62	0.30337	2.049000	0.40912	4.170000	0.42267	-0.185000	0.09859	0.988000	0.36536	1.000000	0.68203	0.013000	0.09966	0.0:0.128:0.4611:0.4108	7.165	0.24864	436	0.80373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	867.98	37	chr1	228338338	.	G	A	867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.052;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.260;SOR=0.624	GT:AD:DP:GQ:PL	0/1:33,38:71:99:882,0,741	20	0	1	0
chr1	228340597	228340597	T	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon71:c.T17507C:p.V5836A	.	.	0	1497	25	0	0	25	0.00828089	.	.	732236	not_provided|OBSCN-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.625	P	0.339	B	0.003	N	0.998	D	1.04	L	1.39	T	-0.989	T	0.087	T	0.28	4.034	20.7	5.05	2.131	7.234	14.954	0.225	.	0.0007	0.00279553	0.0043	0.0003	0.0007	0	0	0.0014	0.0087	0.0158	0.00163	252	154602	rs200917956	0.0011	0.0011	0.0007	0.0014	0.0120	0.0010	0.0010	0.0114	0.0112	0	0.0006	0.0076	2.598e-05	0	0.0051	0.0002	0.0017	0.0120	0.0007	0.0007	0.0006	0.0009	0.0104	0.0006	0.0006	0.0081	0.0073	0.0001	0	0.0002	0.0061	0	0	0.0034	0.0004	0.0009	0.0104	0.007	0.63226	D	0.003	0.79402	D	0.571	0.40054	P	0.229	0.42346	B	0.002719	0.36068	N	0.170242	0.972961	0.44438	D	1.525	0.38595	L	1.39	0.33842	T	-2.92	0.62630	D	0.521	0.55106	-0.9888	0.32903	T	0.087	0.33802	T	10	0.011073947	0.00244	T	.	.	.	0.225	0.52323	.	.	0.565281569661	0.56191	0.5714366766659984	0.57071	0.306001842238	0.32896	0.508028149605	0.39947	T	0.225008	0.58962	T	-0.458175	0.01009	T	-0.420525	0.31016	T	0.0389036189833558	0.03493	T	0.809319	0.45944	T	0.28434536	0.51462	0.41967225	0.65953	0.4140542	0.61694	0.42326257	0.66202	-8.309	0.63156	D	.	.	0.631	0.70162	P	.;.;.;.;.	.;.;.;.;.	2.845605	0.37553	20.5	0.86377097821018733	0.16495	0.98232	0.80766	D	AEFDBCI	0.796990	0.72396	D	0.0357954173428836	0.43489	2.640882	0.0543666899548929	0.42283	2.554841	0.999999995789636	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.05	5.05	0.67566	5.576000	0.67135	7.802000	0.69178	0.661000	0.55757	1.000000	0.71638	0.993000	0.31925	0.060000	0.15972	0.0:0.0:0.0:1.0	14.954	0.70748	436	0.80373	.;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;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	1	0	0	0	0	0	0	0.04762	942.11	33	chr1	228340597	.	T	C	942.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.67;DP=759;ExcessHet=0.1072;FS=1.765;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.844;SOR=0.901	GT:AD:DP:GQ:PL	0/1:28,13:41:99:340,0,710	19	0	2	0
chr1	230990117	230990117	G	A	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon3:c.G302A:p.G101E	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	.	436	1043	41	2	0	45	0.0211168	.	.	707195	ARV1-related_disorder|not_provided	MedGen:CN235539|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	1.0	D	0.996	D	0.000	D	1.000	D	1.21	L	1.04	T	-1.002	T	0.138	T	0.659	4.890	28.1	6.17	2.941	7.466	20.879	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1799.11	35	chr1	230990117	.	G	A	1799.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.77;DP=806;ExcessHet=0.1072;FS=3.361;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.367;SOR=0.439	GT:AD:DP:GQ:PL	0/1:41,20:61:99:576,0,1232	19	0	2	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.288	B	0.157	B	0.015	N	1.000	N	1.59	L	0.96	T	-1.004	T	0.097	T	0.474	1.753	11.82	5.78	2.206	4.328	12.493	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1429	1231.01	149	chr1	243330649	.	T	C	1231.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.731e+00;DP=2188;ExcessHet=1.7912;FS=129.457;InbreedingCoeff=-0.1662;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.60;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,59:229:99:.:.:510,0,3037	15	0	6	0
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.003	B	0.015	N	1.000	N	0.69	N	0.94	T	-1.038	T	0.059	T	0.245	-0.215	2.958	3.84	0.719	2.003	6.558	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.09524	816.92	127	chr1	243330650	.	G	A	816.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.186e+00;DP=1692;ExcessHet=0.6776;FS=142.985;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.98;ReadPosRankSum=3.04;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,61:230:99:.:.:442,0,3050	17	0	4	0
chr1	245688148	245688148	G	C	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.G5165C:p.G1722A,	.	.	424	1095	3	0	0	3	0.00136799	.	.	3212330	KIF26B-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.86	T	0.307	B	0.138	B	.	.	0.939	D	1.905	M	-1.26	T	-0.573	T	0.335	T	0.407	0.181	4.972	4.28	1.177	4.881	13.383	0.327	.	.	0.00299521	0.0025	0	0	0	0	0	0	0.0139	0.0011707	181	154602	rs551218176	0.0006	0.0006	0.0003	0.0008	0.0092	0.0005	0.0005	0.0087	0.0085	0	0	0	0	0	0.0002	3.607e-06	0.0005	0.0092	0.0004	0.0004	0.0001	0.0006	0.0112	0.0003	0.0003	0.0088	0.0080	2.405e-05	0	0	0	0	0	0	1.471e-05	0	0.0112	0.16	0.24372	T	0.218	0.26066	T	0.307	0.32716	B	0.089	0.33406	B	.	.	.	.	0.792258	0.37232	D	1.615	0.41426	L	-1.26	0.79176	T	-1.65	0.39692	N	0.326	0.36674	-0.5725	0.65916	T	0.335	0.70174	T	9	0.0072256923	0.00164	T	.	.	.	0.327	0.64926	0.13	0.03494	0.422646075125	0.41881	0.26977013086311086	0.26890	0.324860348844	0.34644	0.591419935226	0.51694	T	0.098866	0.40311	T	-0.312995	0.07487	T	-0.214981	0.53219	T	0.0336998504763211	0.02588	T	0.750625	0.37241	T	0.11824038	0.27862	0.14872615	0.35144	0.109053805	0.25784	0.15950073	0.37195	-3.021	0.10409	T	.	.	0.080	0.11654	B	.;.	.;.	2.360706	0.30275	18.39	0.65591288660534097	0.07816	0.96279	0.68366	D	AEFDBCI	0.516076	0.54277	D	-0.245354715613	0.31289	1.752977	-0.172072133888346	0.32569	1.85424	0.999998196466222	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	5.2	4.28	0.50183	4.982000	0.63547	10.302000	0.83277	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:0.0:0.8422:0.1578	13.383	0.60225	967	0.07127	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1474.98	45	chr1	245688148	.	G	C	1474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.138;DP=966;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-1.155e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1489,0,1424	20	0	1	0
chr1	246931315	246931315	G	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_015446:exon1:c.C13G:p.R5G,	.	.	.	.	.	.	.	.	.	.	.	2458055	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0.69	N	1.49	T	-1.014	T	0.037	T	0.021	2.644	14.80	-6.94	-3.058	-1.698	0.803	0.012	0.00446249512317	.	.	0.0007	0	0	0	0	0	0	0.0011	8.41e-05	13	154602	rs776797004	7.459e-05	7.114e-05	3.395e-05	0.0001	0.0012	6.27e-05	5.859e-05	0.0010	0.0009	0	0	0	0	0	0	6.495e-06	0.0001	0.0012	3.286e-05	3.281e-05	1.286e-05	5.377e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	6.539e-05	0	0	0	0	0	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	1.49	0.31470	T	-0.07	0.08033	N	0.066	0.03841	-1.0136	0.25784	T	0.037	0.16160	T	7	0.017407179	0.00371	T	0.004462	0.10937	T	0.012	0.01476	0.302	0.27003	0.0675242888579	0.06100	0.4489621501189831	0.44814	0.570592587147	0.53215	0.528731107712	0.42855	T	.	.	.	-0.67282	0.00053	T	-0.784788	0.02312	T	0.0307818163610412	0.02111	T	0.348865	0.07732	T	.	.	.	.	.	.	.	.	-3.155	0.11939	T	.	.	0.095	0.14797	B	.	.	-0.157918	0.03313	0.576	0.98317853380192155	0.40212	0.01764	0.05543	N	ALL	0.024328	0.01488	N	-1.14300800448397	0.05896	0.2699995	-1.39853718808519	0.03268	0.1520837	1.0	0.98316	0.524318	0.21684	1	0.218748	0.04544	0	0.231153	0.04653	2	0.492483	0.08430	1	.	.	3.47	-6.94	0.01475	-1.670000	0.02058	-1.514000	0.05268	-0.307000	0.06116	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3758:0.261:0.2143:0.1489	0.803	0.01010	695	0.58372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	876.98	39	chr1	246931315	.	G	C	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.819e+00;DP=748;ExcessHet=0.0000;FS=1.123;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.12;ReadPosRankSum=0.453;SOR=0.505	GT:AD:DP:GQ:PL	0/1:23,35:58:99:891,0,589	20	0	1	0
chr1	247038425	247038425	C	G	exonic;splicing	ZNF670;ZNF670	NM_001204220:exon4:c.192-1G>C	nonsynonymous SNV	ZNF670:NM_033213:exon4:c.G194C:p.S65T,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.167	B	0.029	B	.	.	1.000	N	0.085	N	3.45	T	-0.913	T	0.008	T	0.056	0.511	6.770	0.427	0.458	0.113	.	0.058	0.00193859453515	0.0002	0.000998403	0.0004	0	0	0	0	0.0001	0	0.0031	0.0003816	59	154602	rs148957284	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0032	6.065e-05	0	0	0	0	0.0023	8.408e-05	0.0004	0.0037	0.0002	0.0002	0.0002	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	7.219e-05	0	0	0	0	0	0.0102	0.0001	0	0.0037	0.113	0.28772	T	0.161	0.31326	T	0.167	0.28604	B	0.029	0.21540	B	.	.	.	.	0.999856	0.20048	N	1.61	0.41143	L	3.45	0.05311	T	-1.53	0.37178	N	0.061	0.03283	-0.9129	0.46492	T	0.008	0.02884	T	8	0.0060248673	0.00135	T	0.001939	0.03456	T	0.058	0.16647	.	.	0.143124449307	0.13826	0.01951464374623035	0.01905	0.033061313921	0.03458	0.374222308397	0.21435	T	0.054851	0.29842	T	-0.701106	0.00036	T	-0.782288	0.02385	T	0.663686335086823	0.39058	D	0.00688878	0.00029	T	0.16061759	0.36015	0.20647158	0.44862	0.16061759	0.36014	0.20647158	0.44861	-7.042	0.54339	T	.	.	0.094	0.14660	B	.	.	1.335240	0.17408	13.15	0.81733374626007138	0.13832	0.00467	0.02241	N	AEFBCI	0.023546	0.01328	N	-1.0569764248023	0.07451	0.3461784	-1.09070771032004	0.07882	0.3852218	2.5239778679327E-4	0.06190	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.427	0.427	0.15704	-1.525000	0.02335	.	.	0.434000	0.20985	0.006000	0.17386	0.000000	0.08366	0.824000	0.38829	.	.	.	567	0.70732	Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1179.98	41	chr1	247038425	.	C	G	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=809;ExcessHet=0.0000;FS=2.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.196;SOR=1.174	GT:AD:DP:GQ:PL	0/1:28,44:72:99:1194,0,730	20	0	1	0
chr1	247159054	247159054	-	C	exonic	ZNF124	.	frameshift insertion	ZNF124:NM_001243740:exon3:c.169dupG:p.E57Gfs*6	.	.	432	1087	2	1	0	4	0.00183655	.	.	2812933	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	3.015e-05	0	0.0010	0.0001294	20	154602	rs558305005	0.0001	0.0001	7.227e-05	0.0001	0.0010	9.62e-05	9.099e-05	0.0009	0.0008	0	9.1e-05	0	0	1.874e-05	0.0002	5.219e-05	0.0001	0.0010	0.0001	0.0001	0.0001	8.053e-05	0.0015	7.085e-05	5.742e-05	0.0007	0.0005	7.215e-05	0	0.0003	0	0	0	0	4.41e-05	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	475.94	40	chr1	247159054	.	T	TC	475.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.390e-01;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-2.700e-02;SOR=0.551	GT:AD:DP:GQ:PL	0/1:21,19:40:99:490,0,565	20	0	1	0
chr1	248180287	248180301	TTTTCTTCTATATAT	-	exonic	OR2M2	.	nonframeshift deletion	OR2M2:NM_001004688:exon1:c.302_316del:p.I101_S106delinsT,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0.0005	0.0001	0	5.993e-05	0.0011	0.0037	3.84e-05	1	26028	rs770843804	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0002	0.0034	0.0033	0	0.0002	0	2.519e-05	0	0.0005	3.777e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0004	0.0065	0.0002	0.0002	0.0047	0.0041	2.413e-05	0	0	0	0	0	0	5.884e-05	0	0.0065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	6190.94	326	chr1	248180286	.	ATTTTCTTCTATATAT	A	6190.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=5104;ExcessHet=0.0000;FS=3.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.64;MQRankSum=-5.504e+00;QD=15.25;ReadPosRankSum=-4.210e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,165:406:99:0|1:248180286_ATTTTCTTCTATATAT_A:6205,0,9621:248180286	20	0	1	0
chr1	248180303	248180303	-	TT	exonic	OR2M2	.	frameshift insertion	OR2M2:NM_001004688:exon1:c.318_319insTT:p.L107Ffs*25,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0.0005	0.0001	0	5.993e-05	0.0011	0.0037	3.84e-05	1	26028	rs778976585	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0002	0.0034	0.0033	0	0.0002	0	2.519e-05	0	0.0005	3.777e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0004	0.0064	0.0002	0.0002	0.0047	0.0041	2.414e-05	0	0	0	0	0	0	5.884e-05	0	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	6273.94	326	chr1	248180303	.	A	ATT	6273.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.97;DP=5087;ExcessHet=0.0000;FS=5.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.67;MQRankSum=-5.634e+00;QD=15.96;ReadPosRankSum=0.302;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,166:393:99:0|1:248180286_ATTTTCTTCTATATAT_A:6288,0,9031:248180286	20	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3294.69	34	chr1	248361672	.	A	G,*	3294.69	.	AC=1,14;AF=0.025,0.350;AN=40;BaseQRankSum=-7.600e-01;DP=3320;ExcessHet=0.8717;FS=8.880;InbreedingCoeff=0.0286;MLEAC=1,14;MLEAF=0.025,0.350;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=0.556;SOR=0.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:190,0,57:247:99:0|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:1840,2412,10390,0,7978,7791:248361635	8	0	1	1
chr2	9418676	9418676	G	A	exonic	ITGB1BP1	.	stopgain	ITGB1BP1:NM_001319066:exon2:c.C22T:p.R8X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.595	37	4.64	1.273	6.309	12.379	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053877887	3.421e-06	3.42e-06	5.445e-06	1.375e-06	1.159e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	1.159e-05	6.593e-06	6.578e-06	0	1.352e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.869	0.86618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595077	0.97509	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.;Dominant;.;.;.;.;.;.;.;.;.	High;.;High;.;.;.;.;.;.;.;.;.	8.909490	0.98193	39	0.99807981370357879	0.89174	0.98026	0.78979	D	AEFBI	0.239550	0.36149	N	0.814885133146976	0.87029	9.07882	0.68277328720411	0.81072	7.441855	0.999999881282243	0.74766	0.732398	0.92422	0	0.688494	0.66719	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.54	4.64	0.57399	6.479000	0.73509	9.304000	0.79900	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.6836:0.3164	12.379	0.54627	743	0.52768	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2807.98	44	chr2	9418676	.	G	A	2807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.107;DP=1033;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-9.300e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/1:109,117:226:99:2822,0,2558	20	0	1	0
chr2	9492963	9492963	C	T	exonic	ADAM17	.	nonsynonymous SNV	ADAM17:NM_001382777:exon17:c.G1357A:p.V453I	.	.	0	1514	8	0	0	8	0.00263505	.	.	518750	ADAM17-related_disorder|Inflammatory_skin_and_bowel_disease,_neonatal,_1	.|MONDO:MONDO:0013693,MedGen:C3280501,OMIM:614328,Orphanet:294023	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.929	D	0.000	D	1.000	D	2.605	M	1.73	T	-0.909	T	0.105	T	0.468	5.409	34	5.67	2.666	7.487	19.763	0.165	.	0.0064	0.00439297	0.0091	0.0023	0.0296	0	0.0046	0.0096	0.0048	0.0032	0.0082923	1282	154602	rs61754177	0.0075	0.0076	0.0079	0.0072	0.0247	0.0074	0.0074	0.0235	0.0230	0.0015	0.0247	0.0012	0	0.0053	0.0023	0.0080	0.0069	0.0026	0.0066	0.0066	0.0070	0.0061	0.0128	0.0062	0.0061	0.0113	0.0108	0.0029	0	0.0128	0.0009	0.0006	0.0049	0	0.0088	0.0085	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.929	0.66367	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.07	0.87108	M	1.73	0.26445	T	-0.9	0.24244	N	0.575	0.59732	-0.9092	0.46952	T	0.105	0.38440	T	10	0.0096232295	0.00217	T	.	.	.	0.165	0.42395	.	.	0.585511498628	0.58225	0.7926218680777313	0.79215	1.06660827817	0.76643	0.773691654205	0.77977	T	0.193074	0.54842	T	-0.33683	0.05610	T	-0.236337	0.51156	T	0.0405562450304283	0.03791	T	0.978702	0.92553	D	0.44550937	0.63756	0.34848458	0.60488	0.35925072	0.57778	0.41428483	0.65576	-9.296	0.69582	D	.	.	0.518	0.65395	A	.;.	.;.	5.037218	0.83818	28.1	0.99869272522251851	0.94726	0.98955	0.89130	D	AEFDGBI	0.841648	0.75882	D	0.831738355005027	0.88043	9.433349	0.809031004202586	0.90415	10.39654	0.999999999999949	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.67	5.67	0.87673	7.568000	0.81546	5.891000	0.50761	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.763	0.96324	635	0.64580	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1569.98	37	chr2	9492963	.	C	T	1569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.447;DP=804;ExcessHet=0.0000;FS=2.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=-6.430e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:46,64:110:99:1584,0,1011	20	0	1	0
chr2	15553470	15553470	A	C	exonic	NBAS	.	nonsynonymous SNV	NBAS:NM_015909:exon5:c.T291G:p.N97K,	Infantile liver failure syndrome 2, Autosomal recessive;Short stature, optic nerve atrophy, and Pelger-Huet anomaly, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	1520816	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.815	P	0.000	D	0.999	N	1.7	L	0.89	T	-0.943	T	0.139	T	0.211	2.192	13.29	-0.906	-0.337	1.063	8.175	0.138	0.0237317080058	.	0.00119808	0.0003	0	0	0	0	0	0	0.0022	0.0002781	43	154602	rs537542938	0.0002	0.0002	8.462e-05	0.0002	0.0027	0.0001	0.0001	0.0024	0.0023	2.995e-05	6.709e-05	0	0	0	0	0	6.636e-05	0.0027	0.0001	0.0001	6.425e-05	0.0002	0.0033	7.573e-05	6.278e-05	0.0021	0.0017	0	0	6.535e-05	0	0	0	0	0	0.0005	0.0033	0.013	0.53900	D	0.009	0.66756	D	0.996	0.68779	D	0.815	0.58847	P	0.000000	0.84330	D	0.000000	0.999104	0.46078	D	2.485	0.72352	M	0.89	0.45636	T	-2.79	0.59059	D	0.613	0.62950	-0.9430	0.42137	T	0.139	0.45753	T	10	0.016653895	0.00352	T	0.023732	0.46702	T	0.138	0.37187	0.36	0.36385	0.616947796064	0.61385	0.5410744238206066	0.54032	0.25642717194	0.28219	0.691484868526	0.65919	T	0.264308	0.63607	T	-0.473869	0.00804	T	-0.459624	0.26640	T	0.205611604107949	0.20722	T	0.89841	0.64469	D	0.32493228	0.55052	0.291948	0.55220	0.32493228	0.55052	0.291948	0.55219	-5.529	0.42139	T	0.7059342054130937	0.78554	0.734	0.74359	P	.	.	3.575760	0.50385	22.9	0.94879742014605173	0.25709	0.82952	0.42114	D	AEFBI	0.180393	0.30770	N	0.0549660573588127	0.44373	2.712416	-0.0454808981853985	0.37687	2.209969	0.999422712230414	0.39630	0.732398	0.92422	0	0.708844	0.79440	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	4.57	-0.906	0.09989	0.628000	0.24215	0.256000	0.16486	0.691000	0.84096	0.999000	0.42656	0.410000	0.24754	0.994000	0.71098	0.6506:0.0:0.3494:0.0	8.175	0.30435	476	0.77720	Neuroblastoma-amplified sequence, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	839.98	33	chr2	15553470	.	A	C	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=770;ExcessHet=0.0000;FS=5.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=0.232;SOR=1.371	GT:AD:DP:GQ:PL	0/1:50,36:86:99:854,0,1107	20	0	1	0
chr2	21034831	21034831	G	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon8:c.C889T:p.R297C,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	538562	Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided	MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.003	N	1.000	D	2.545	M	1.0	T	-0.527	T	0.250	T	0.772	3.921	19.94	3.07	1.416	4.079	11.687	0.385	0.0963889400119	.	.	0.0001	9.612e-05	8.637e-05	0.0002	0	1.498e-05	0.0022	0.0004	9.06e-05	14	154602	rs766376456	4.442e-05	4.858e-05	3.322e-05	5.57e-05	0.0004	3.56e-05	3.24e-05	0.0003	0.0003	0	2.237e-05	3.844e-05	2.525e-05	0	0	2.013e-05	5.032e-05	0.0004	7.886e-05	7.88e-05	3.854e-05	0.0001	0.0008	4.497e-05	3.513e-05	0.0003	0.0002	0.0001	0	0	0.0003	0	0	0	2.94e-05	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.002545	0.36353	N	0.103199	0.999973	0.53665	D	.	.	.	1.0	0.41392	T	-5.28	0.93404	D	0.364	0.52829	-0.5274	0.67639	T	0.250	0.61923	T	10	0.28714454	0.46297	T	0.096389	0.76594	D	0.385	0.70194	0.626	0.76141	0.718403584121	0.71592	0.5434712448268765	0.54273	0.27742654238	0.30220	0.366382628679	0.20312	T	0.389375	0.74982	T	-0.14261	0.29477	T	-0.081832	0.64770	T	0.68950574082363	0.40225	D	0.935006	0.75597	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.66042	A	.;.	.;.	5.069210	0.84532	28.3	0.9990089342712769	0.97275	0.90514	0.51753	D	AEFBHCI	0.874237	0.79702	D	0.631970731827702	0.75207	6.265307	0.553205971643641	0.71619	5.682729	0.999999933177039	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.08	3.07	0.34476	4.072000	0.57282	7.401000	0.58575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.452:0.548	11.687	0.50757	867	0.32089	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	902.98	36	chr2	21034831	.	G	A	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.130e-01;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=0.182;SOR=0.743	GT:AD:DP:GQ:PL	0/1:50,39:89:99:917,0,1277	20	0	1	0
chr2	23642776	23642776	C	T	exonic	KLHL29	.	nonsynonymous SNV	KLHL29:NM_052920:exon5:c.C866T:p.S289L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.584	P	0.087	B	0.211	N	0.978	D	0.695	N	-0.5	T	-0.816	T	0.167	T	0.351	2.497	14.31	4.11	1.243	4.076	8.589	0.079	0.0457000056311	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411801256	2.861e-06	3.42e-06	4.234e-06	1.45e-06	1.262e-05	6.7e-07	4.5e-07	.	.	0	0	0	0	0	0	9.269e-07	3.449e-05	1.262e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.049	0.48336	D	.	.	.	.	.	.	0.211056	0.16365	N	0.546809	0.978381	0.39457	D	0.55	0.14455	N	-0.5	0.70480	T	-1.72	0.40850	N	0.253	0.28616	-0.8161	0.54177	T	0.167	0.50567	T	10	0.14892223	0.28194	T	0.046	0.62104	D	0.089	0.25827	.	.	0.504418060211	0.50079	0.2145854782293303	0.21374	.	.	0.564594089985	0.47915	T	0.03654	0.24141	T	-0.0211479	0.48691	T	-0.268154	0.48007	T	0.60908180475235	0.36763	D	0.878912	0.59457	D	0.109232835	0.25826	0.14959982	0.35316	0.109232835	0.25826	0.14959982	0.35316	-4.03	0.24251	T	.	.	0.123	0.25624	B	.	.	3.614362	0.51120	23.0	0.9973917056861249	0.83337	0.95864	0.66482	D	AEFDBI	0.264415	0.38176	N	-0.138670890869019	0.35718	2.055205	0.00469578817001326	0.39932	2.375268	0.998253914858459	0.36648	0.562547	0.31514	0	0.653731	0.59785	0	0.603688	0.36954	0	0.635551	0.53088	0	.	.	4.99	4.11	0.47350	4.129000	0.57713	7.616000	0.62106	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.739000	0.35404	0.1514:0.7709:0.0:0.0778	8.589	0.32836	930	0.16408	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	537.98	35	chr2	23642776	.	C	T	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.370e-01;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.78;ReadPosRankSum=-7.130e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:31,24:55:99:552,0,781	20	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.006	B	0.017	B	.	.	0.956	D	0.26	N	-3.53	D	-0.892	T	0.148	T	0.262	1.849	12.14	5.84	2.367	4.223	16.532	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.325	1873.78	24	chr2	23864893	.	T	C	1873.78	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.572e+00;DP=1254;ExcessHet=11.8493;FS=218.613;InbreedingCoeff=-0.4705;MLEAC=13;MLEAF=0.325;MQ=60.00;MQRankSum=0.00;QD=2.15;ReadPosRankSum=0.843;SOR=11.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,24:69:99:.:.:180,0,512	7	0	13	1
chr2	23888385	23888385	G	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon3:c.C383G:p.P128R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.919	P	0.587	P	.	.	0.955	N	0	N	0.81	T	-0.159	T	0.594	D	0.276	2.656	14.84	4.5	2.236	2.334	10.924	0.251	0.0702449395243	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331466314	6.949e-07	1.368e-06	0	1.397e-06	1.215e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.215e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.72154	D	0.51	0.10821	T	0.919	0.50927	P	0.587	0.50368	P	.	.	.	.	0.955118	0.26345	N	.	.	.	-2.95	0.91903	D	-0.94	0.39119	N	0.283	0.32037	-0.1592	0.78691	T	0.594	0.85486	D	9	0.16723457	0.31207	T	0.070245	0.70949	D	0.251	0.56024	0.274	0.22528	0.393040851499	0.38920	0.2849975761602241	0.28412	0.677873480531	0.59851	0.509379267693	0.40135	T	0.021792	0.16908	T	-0.0159126	0.49434	T	-0.148143	0.59408	T	0.399020214584755	0.28905	T	0.865113	0.56350	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.34775	B	.;.	.;.	4.524028	0.70963	25.6	0.99418220361339993	0.63645	0.91221	0.53098	D	AEFBI	0.263138	0.38074	N	0.0916920692683371	0.46075	2.853634	0.196023661031655	0.49628	3.163765	0.00607420510638251	0.11122	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.5	4.5	0.54382	3.175000	0.50556	11.817000	0.97118	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1419:0.0:0.8581:0.0	10.924	0.46395	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	0.02381	1062.98	33	chr2	23888385	.	G	C	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.418;DP=790;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=-1.410e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1077,0,1252	20	0	1	0
chr2	27242740	27242740	G	C	exonic	CAD	.	nonsynonymous SNV	CAD:NM_001306079:exon40:c.G6154C:p.V2052L	Epileptic encephalopathy, early infantile, 50, Autosomal recessive	.	426	1094	1	1	0	3	0.00136924	.	.	364149	not_provided|CAD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.232	B	0.109	B	0.000	D	1.000	D	1.43	L	-5.23	D	0.438	D	0.776	D	0.377	1.593	11.28	4.32	2.429	6.782	6.004	0.544	.	0.0061	0.00339457	0.0053	0.0022	0.0019	0	0.0070	0.0076	0.0055	0.0026	0.0051164	791	154602	rs61737365	0.0093	0.0093	0.0095	0.0090	0.0111	0.0091	0.0091	0.0109	0.0109	0.0014	0.0023	0.0015	2.519e-05	0.0065	0.0002	0.0111	0.0072	0.0027	0.0056	0.0056	0.0061	0.0050	0.0091	0.0052	0.0051	0.0085	0.0082	0.0019	0	0.0028	0.0020	0	0.0079	0	0.0091	0.0038	0.0012	0.197	0.21224	T	0.193	0.28210	T	0.232	0.30664	B	0.109	0.31370	B	0.000003	0.62929	D	0.058735	0.99987	0.50225	D	1.31	0.32734	L	-5.23	0.98892	D	-1.69	0.40274	N	0.481	0.51583	0.438	0.89658	D	0.776	0.92377	D	10	0.010230601	0.00228	T	.	.	.	0.544	0.81018	0.715	0.85051	0.837892935197	0.83635	0.6131138173519606	0.61243	0.531617189357	0.50652	0.623715698719	0.56254	T	0.445038	0.79423	T	-0.155682	0.27427	T	0.00957024	0.70954	D	0.0227811320075894	0.00998	T	0.857514	0.54691	D	0.16658469	0.37003	0.09411074	0.22261	0.14909628	0.34007	0.11028023	0.26589	-5.45	0.41397	T	.	.	0.301	0.53080	B	.;.	.;.	3.305329	0.45390	22.1	0.85491413260260352	0.15926	0.90725	0.52143	D	AEFDGBHCI	0.741489	0.68540	D	-0.191404379800251	0.33491	1.900675	-0.137372751538191	0.33899	1.943982	0.999999999596099	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	4.32	0.50899	6.822000	0.75068	8.615000	0.77786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.248:0.0:0.752:0.0	6.004	0.18765	251	0.90153	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain;Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding 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	0.02381	1736.98	35	chr2	27242740	.	G	C	1736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.917;DP=881;ExcessHet=0.0000;FS=6.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=1.24;SOR=1.195	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1751,0,2078	20	0	1	0
chr2	36598055	36598055	G	A	exonic	FEZ2	.	nonsynonymous SNV	FEZ2:NM_001042548:exon1:c.C88T:p.P30S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.573	P	0.118	B	0.646	N	1.000	D	1.155	L	2.03	T	-1.014	T	0.027	T	0.134	0.902	8.667	1.01	0.269	0.816	5.101	0.031	0.0464423614693	.	.	0.0008	0	0	0	.	0	0	0.0011	5.17e-05	8	154602	rs748827473	4.221e-05	4.036e-05	2.485e-05	6.006e-05	0.0007	3.299e-05	3.012e-05	0.0006	0.0005	0	0	0	0	0	0	0	3.552e-05	0.0007	1.996e-05	1.975e-05	1.3e-05	2.725e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.18e-05	0	0	0	0	0	0	0	0	0	0.0006	0.136	0.26085	T	0.359	0.17014	T	0.073	0.24078	B	0.037	0.23121	B	0.645922	0.10557	N	0.843870	0.628411	0.30720	N	1.155	0.29575	L	2.03	0.20959	T	0.22	0.05125	N	0.128	0.12198	-1.0138	0.25720	T	0.027	0.11751	T	10	0.021428615	0.00512	T	0.046442	0.62461	D	0.031	0.07369	0.278	0.23164	0.325263233342	0.32141	0.4755471872345375	0.47473	0.00995840325899	0.00909	0.828248083591	0.86294	D	0.009035	0.08254	T	-0.409505	0.02003	T	-0.454917	0.27154	T	0.0974937936745057	0.12079	T	0.534647	0.23115	T	0.03655594	0.04519	0.08108778	0.18399	0.03655594	0.04518	0.08108778	0.18399	-3.981	0.24102	T	.	.	0.075	0.05360	B	.;.	.;.	1.952254	0.24794	16.53	0.96713101156701087	0.30818	0.27108	0.23184	N	AEFDBHCI	0.126535	0.24351	N	-0.533891671361959	0.20992	1.110741	-0.466215946999444	0.23090	1.257462	0.999999947174411	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.94	1.01	0.19044	0.717000	0.25523	1.041000	0.23557	0.551000	0.28136	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.1243:0.4312:0.4446:0.0	5.101	0.14096	857	0.34089	.;.	.	.	.	.	.	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	0.02632	59.76	9	chr2	36598055	.	G	A	59.76	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.385;DP=332;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0304;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=-1.036e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:72:73,0,72	18	0	1	2
chr2	69479028	69479028	C	T	exonic	AAK1	.	nonsynonymous SNV	AAK1:NM_014911:exon20:c.G2603A:p.C868Y,	.	.	.	.	.	.	.	.	.	.	.	2219746	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.0	B	.	.	1.000	D	0.345	N	1.84	T	-1.090	T	0.036	T	0.192	3.494	17.87	2.91	0.830	2.279	9.121	0.039	0.00560588341433	.	0.000199681	0.0001	0	8.64e-05	0	0	1.499e-05	0	0.0007	9.06e-05	14	154602	rs549137333	5.679e-05	5.678e-05	1.906e-05	9.49e-05	0.0009	4.677e-05	4.302e-05	0.0008	0.0007	0	0	0	0	0	0	0	3.313e-05	0.0009	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.034	0.44029	D	0.119	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	1.04	0.26193	L	1.84	0.24656	T	-1.02	0.26843	N	0.283	0.32037	-1.0903	0.05482	T	0.036	0.15378	T	9	0.025997728	0.00778	T	0.005606	0.14469	T	0.039	0.10176	0.387	0.40788	0.302481332339	0.29867	0.30926497571767264	0.30839	1.15611858945	0.79371	0.499338805676	0.38735	T	0.027884	0.20322	T	-0.487367	0.00672	T	-0.5376	0.18533	T	0.1785999591182	0.19147	T	0.893011	0.63001	D	0.15198296	0.34524	0.20494138	0.44640	0.15198296	0.34523	0.20494138	0.44639	-5.493	0.41803	T	.	.	0.133	0.28636	B	.	.	4.041113	0.59833	24.1	0.99610121132509544	0.74753	0.93295	0.57835	D	AEFBI	0.294067	0.40454	N	-0.278486947641476	0.29980	1.667493	-0.0903711602461156	0.35788	2.074638	0.856442772308085	0.25142	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.88	2.91	0.32903	2.355000	0.43761	3.609000	0.39247	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.6197:0.2337:0.1466	9.121	0.35950	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1207.98	33	chr2	69479028	.	C	T	1207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.280e+00;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=0.248;SOR=0.690	GT:AD:DP:GQ:PL	0/1:72,55:127:99:1222,0,1902	20	0	1	0
chr2	70921218	70921218	G	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.G368A:p.R123H,	.	.	7	1511	4	0	0	4	0.00132188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.154	B	0.052	B	0.000	N	1.000	D	1.26	L	-3.98	D	0.446	D	0.778	D	0.504	3.851	19.56	4.55	1.292	6.308	12.266	0.442	0.0580321307399	0.0002	0.000599042	0.0002	0	0.0003	0	0	0.0003	0	0.0002	0.000194	30	154602	rs142434739	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	2.988e-05	0.0003	7.655e-05	0	0	0.0017	0.0001	0.0004	0.0002	0.0003	0.0003	0.0001	0.0004	0.0013	0.0002	0.0002	0.0009	0.0007	4.812e-05	0	0.0013	0	0	0	0	0.0002	0.0014	0	0.057	0.37966	T	0.056	0.46632	T	0.154	0.28120	B	0.052	0.25551	B	0.000005	0.62929	N	0.059173	0.999996	0.58761	D	0.76	0.19266	N	-3.98	0.96277	D	-3.04	0.62863	D	0.484	0.51851	0.446	0.89772	D	0.778	0.92471	D	10	0.10847312	0.20194	T	0.058032	0.67176	D	0.442	0.74518	.	.	0.994733737501	0.99467	0.3417572357766077	0.34088	0.0664129689356	0.07407	0.561388969421	0.47464	T	0.724481	0.92239	D	-0.039736	0.45989	T	0.0156641	0.71348	D	0.0868726372718811	0.10843	T	0.89951	0.64815	D	0.21398084	0.43792	0.17861587	0.40543	0.21398084	0.43792	0.17861587	0.40542	-10.886	0.79029	D	.	.	0.128	0.27222	B	.	.	4.342219	0.66620	25.0	0.99875313892311779	0.95244	0.96578	0.69843	D	AEFBI	0.844367	0.76134	D	0.0383660465749163	0.43607	2.650437	0.191726888616894	0.49392	3.142983	0.999999090568966	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	4.55	0.55429	6.426000	0.73301	3.397000	0.38105	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0828:0.0:0.9172:0.0	12.266	0.53996	723	0.55174	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1885.98	42	chr2	70921218	.	G	A	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.121e+00;DP=1007;ExcessHet=0.0000;FS=2.189;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.118;SOR=0.495	GT:AD:DP:GQ:PL	0/1:70,76:146:99:1900,0,1935	20	0	1	0
chr2	70921270	70921270	C	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C420A:p.N140K,	.	.	10	1511	1	0	0	1	0.000330797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.563	P	0.432	B	0.000	D	1.000	D	1.49	L	-3.87	D	0.340	D	0.774	D	0.387	3.369	17.36	3.62	1.297	0.416	7.931	0.551	0.292463933518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	2.736e-06	0	5.515e-06	0.0003	6.4e-07	4.3e-07	6.115e-05	2.53e-05	0	0	0	0	0	0.0003	9.004e-07	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.071	0.43531	T	0.563	0.38396	P	0.432	0.45448	B	0.000000	0.84330	D	0.049401	0.999998	0.58761	D	0.72	0.18721	N	-3.87	0.95922	D	-4.0	0.74051	D	0.674	0.68169	0.340	0.88189	D	0.774	0.92318	D	10	0.7728548	0.77222	D	0.292464	0.90610	D	0.551	0.81427	0.395	0.42099	0.996545612156	0.99650	0.44276866868221365	0.44193	0.0902298067989	0.10174	0.791739463806	0.80708	T	0.742196	0.92868	D	0.10581	0.64913	D	-0.0857872	0.64478	T	0.865194737911224	0.51532	D	0.925307	0.72522	D	0.42526823	0.62441	0.4102459	0.65290	0.42526823	0.62441	0.4102459	0.65290	-7.51	0.57681	D	.	.	0.531	0.65985	A	.	.	3.103460	0.41837	21.4	0.9960098956052883	0.74219	0.87582	0.47169	D	AEFBI	0.475383	0.51924	N	-0.118030900735773	0.36608	2.118309	-0.0446073390674474	0.37725	2.212719	0.982612187822348	0.30428	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	3.62	0.40616	0.448000	0.21443	2.651000	0.33816	-0.182000	0.10109	0.993000	0.37899	1.000000	0.68203	0.891000	0.42908	0.0:0.7447:0.0:0.2553	7.931	0.29068	723	0.55174	Homeobox domain|Homeobox domain, metazoa|Helix-turn-helix motif|Helix-turn-helix motif|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	996.98	42	chr2	70921270	.	C	A	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.854;DP=900;ExcessHet=0.0000;FS=0.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.445;SOR=0.860	GT:AD:DP:GQ:PL	0/1:41,37:78:99:1011,0,1036	20	0	1	0
chr2	73081099	73081101	TCC	-	exonic	RAB11FIP5	.	nonframeshift deletion	RAB11FIP5:NM_001371272:exon4:c.2131_2133del:p.G712del,	.	.	481	755	173	66	47	352	0.168044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1438.94	11	chr2	73081095	.	TTCCTCC	T,TTCC	1438.94	.	AC=6,2;AF=0.143,0.048;AN=42;BaseQRankSum=0.812;DP=242;ExcessHet=3.5521;FS=2.847;InbreedingCoeff=-0.2414;MLEAC=6,2;MLEAF=0.143,0.048;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=0.180;SOR=0.993	GT:AD:DP:GQ:PL	0/1:6,9,0:15:99:320,0,210,338,237,575	13	0	6	0
chr2	73293217	73293217	G	T	exonic	EGR4	.	nonsynonymous SNV	EGR4:NM_001965:exon1:c.C101A:p.A34D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.372	B	0.299	B	0.192	N	1.000	N	0.55	N	2.73	T	-1.017	T	0.027	T	0.227	2.244	13.46	-0.269	0.049	-0.062	4.355	0.015	0.0876730950374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.175	0.51112	T	.	.	.	.	.	.	0.192406	0.16812	N	0.534107	1	0.08975	N	0.55	0.14455	N	2.73	0.16953	T	-0.76	0.21215	N	0.207	0.22998	-1.0168	0.24755	T	0.027	0.11574	T	10	0.115300834	0.21719	T	0.087673	0.74982	D	0.015	0.02232	.	.	0.403896168776	0.40002	0.31059524387579374	0.30972	0.863382039472	0.69074	0.674284517765	0.63448	T	0.101437	0.40820	T	-0.235307	0.15952	T	-0.575779	0.14923	T	0.301985014735545	0.25086	T	0.579642	0.20943	T	0.28948724	0.51944	0.18785225	0.42042	0.28948724	0.51944	0.18785225	0.42041	-5.346	0.40396	T	.	.	0.354	0.56838	A	.;.	.;.	2.370417	0.30412	18.43	0.98651127763783197	0.44192	0.00962	0.03689	N	AEFDBHCI	0.063736	0.12334	N	-0.561009620411861	0.20141	1.059521	-0.558147176663404	0.20589	1.110001	0.999954224171998	0.48110	0.59774	0.34471	0	0.606814	0.50340	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.06	-0.269	0.12291	0.837000	0.27212	2.771000	0.34670	0.662000	0.56354	0.246000	0.24809	0.998000	0.33993	0.788000	0.37229	0.3184:0.3562:0.3254:0.0	4.355	0.10610	550	0.72197	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	876.98	35	chr2	73293217	.	G	T	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.310e-01;DP=771;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=-8.530e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/1:53,36:89:99:891,0,1306	20	0	1	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	2/5:0,0,21,0,0,17:38:99:1511,1531,1635,649,773,812,1531,1635,773,1635,1531,1635,773,1635,1635,870,882,0,882,882,820	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	2/5:0,0,21,0,0,17:38:99:1511,1531,1635,649,773,812,1531,1635,773,1635,1531,1635,773,1635,1635,870,882,0,882,882,820	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	2/5:0,0,21,0,0,17:38:99:1511,1531,1635,649,773,812,1531,1635,773,1635,1531,1635,773,1635,1635,870,882,0,882,882,820	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	2/5:0,0,21,0,0,17:38:99:1511,1531,1635,649,773,812,1531,1635,773,1635,1531,1635,773,1635,1635,870,882,0,882,882,820	0	4	5	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,46:296:99:0|1:94876587_C_A:1179,0,10278:94876587	6	0	15	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,113:408:99:0|1:94876587_C_A:3857,0,12047:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,144:449:99:0|1:94876587_C_A:5047,0,12324:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:350,176:526:99:0|1:94876671_A_G:6296,0,13997:94876671	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:350,178:528:99:0|1:94876671_A_G:6340,0,13991:94876671	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:331,132:463:99:.:.:3228,0,8164	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:401,55:456:99:0|1:94876737_C_A:1070,0,16548:94876737	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	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	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,54:450:99:0|1:94876737_C_A:1064,0,16402:94876737	9	0	12	0
chr2	95274618	95274618	-	CTGGGC	exonic	PROM2	.	nonframeshift insertion	PROM2:NM_001165977:exon1:c.33_34insCTGGGC:p.L18_A19insGL	.	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0007	0	8.679e-05	0	0	7.717e-05	0	0.0054	0.0005369	83	154602	rs566664897	0.0003	0.0003	0.0002	0.0004	0.0036	0.0002	0.0002	0.0032	0.0031	0	0	0.0010	5.084e-05	0	0.0008	2.627e-05	0.0004	0.0036	0.0001	0.0001	8.995e-05	0.0001	0.0027	7.574e-05	6.279e-05	0.0016	0.0013	0	0	0	0.0006	0	0	0	4.412e-05	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1477.94	35	chr2	95274618	.	G	GCTGGGC	1477.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.205e+00;DP=784;ExcessHet=0.0000;FS=2.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.89;ReadPosRankSum=-6.350e-01;SOR=0.980	GT:AD:DP:GQ:PL	0/1:52,41:93:99:1492,0,1977	20	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:167,69:236:99:.:.:1634,0,4468	0	0	21	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S,	.	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:170,169:339:99:3866,0,4766	0	0	21	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T,	.	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:174,122:296:99:.:.:3640,0,4968	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	1.000	N	0.625	N	2.59	T	-0.961	T	0.019	T	0.071	-0.386	2.186	-2.48	-0.579	0.734	3.442	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8954.51	309	chr2	95855586	.	T	C	8954.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.765;DP=6041;ExcessHet=30.0624;FS=14.124;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.89;MQRankSum=-6.696e+00;QD=1.78;ReadPosRankSum=-2.125e+00;SOR=2.133	GT:AD:DP:GQ:PL	0/1:228,60:288:99:1137,0,8771	3	0	18	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R,	.	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.5	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:187,97:284:99:.:.:2828,0,5395	0	0	21	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A,	.	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,11:110:20:.:.:20,0,4106	7	0	14	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4,	.	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,45:183:99:0|1:95859969_A_AT:1432,0,5592:95859969	1	0	20	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M,	.	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.053	B	0.021	B	.	.	0.994	N	-1.7	N	2.42	T	-0.981	T	0.008	T	0.245	-3.330	0.001	-3.7	-1.374	-0.833	3.712	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	28168.43	155	chr2	95859970	.	G	T	28168.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.065;DP=3274;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.99;MQRankSum=-9.404e+00;QD=8.80;ReadPosRankSum=0.078;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,45:184:99:0|1:95859969_A_AT:1429,0,5614:95859969	1	0	20	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q,	.	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.055	B	0.007	B	.	.	1.000	N	-1.355	N	2.42	T	-0.947	T	0.010	T	0.097	-0.493	1.736	0.634	0.138	0.540	5.605	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	27722.43	155	chr2	95859975	.	C	T	27722.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.800e-02;DP=3242;ExcessHet=43.6797;FS=2.825;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.484e+00;QD=8.72;ReadPosRankSum=-1.190e-01;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,44:183:99:0|1:95859969_A_AT:1428,0,5617:95859969	1	0	20	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G,	.	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.618	P	0.296	B	.	.	1.000	P	0.345	N	2.35	T	-1.040	T	0.022	T	0.211	-0.948	0.346	1.85	1.110	0.027	3.593	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	24477.43	159	chr2	95859988	.	T	C	24477.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.265;DP=3203;ExcessHet=43.6797;FS=2.880;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.88;MQRankSum=-9.614e+00;QD=7.83;ReadPosRankSum=-7.870e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:135,43:178:99:1291,0,3588	1	0	20	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L,	.	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.898	P	0.775	P	.	.	1.000	P	1.965	M	2.2	T	-0.998	T	0.066	T	0.49	0.033	4.184	-0.873	-0.207	1.019	2.065	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	17994.43	154	chr2	95860002	.	T	A	17994.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.989;DP=3061;ExcessHet=43.6797;FS=3.053;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.84;MQRankSum=-9.029e+00;QD=6.03;ReadPosRankSum=-1.082e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,38:166:99:0|1:95860002_T_A:1170,0,5175:95860002	1	0	20	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E,	.	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,36:162:99:0|1:95860002_T_A:1112,0,5130:95860002	1	0	20	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I,	.	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,29:143:99:0|1:95860020_G_A:875,0,4618:95860020	1	0	20	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X,	.	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	15.302	49	-0.698	-0.207	0.666	5.748	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	17446.43	144	chr2	95860023	.	A	C	17446.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.97;DP=2699;ExcessHet=43.6797;FS=5.438;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.71;MQRankSum=-8.809e+00;QD=6.58;ReadPosRankSum=-1.356e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,28:142:99:0|1:95860020_G_A:833,0,4621:95860020	1	0	20	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N,	.	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	P	-1.59	N	2.33	T	-0.964	T	0.008	T	0.055	-3.899	0.001	-2.51	-0.641	0.852	0.839	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	11608.43	114	chr2	95860046	.	C	A	11608.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.094;DP=2166;ExcessHet=43.6797;FS=7.428;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.39;MQRankSum=-9.225e+00;QD=5.60;ReadPosRankSum=-1.053e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:104,21:125:99:570,0,2986	1	0	20	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24,	.	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	19293.39	162	chr2	95927222	.	G	GAT	19293.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=2.91;DP=3244;ExcessHet=43.6797;FS=41.935;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.80;MQRankSum=-9.777e+00;QD=6.04;ReadPosRankSum=-5.428e+00;SOR=4.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,38:180:99:0|1:95927222_G_GAT:1168,0,5838:95927222	1	0	20	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18,	.	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28849.39	181	chr2	95927226	.	GTT	G	28849.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.24;DP=3663;ExcessHet=43.6797;FS=12.728;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.66;MQRankSum=-1.068e+01;QD=7.97;ReadPosRankSum=-5.292e+00;SOR=1.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,53:200:99:0|1:95927222_G_GAT:1783,0,6003:95927222	1	0	20	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G,	.	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	2.045	M	-1.11	T	-0.526	T	0.427	T	0.17	0.495	6.683	0.578	0.482	1.675	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	39187.43	200	chr2	95927234	.	T	C	39187.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.176e+00;DP=4058;ExcessHet=43.6797;FS=7.313;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.37;MQRankSum=-1.145e+01;QD=9.76;ReadPosRankSum=-5.766e+00;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,63:219:99:0|1:95927222_G_GAT:2176,0,6361:95927222	1	0	20	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T,	.	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	.	.	.	.	.	.	1.000	N	2.175	M	-1.08	T	-0.803	T	0.326	T	0.253	0.721	7.838	-1.16	-0.580	0.588	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	71909.43	290	chr2	95927252	.	A	G	71909.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.880e-01;DP=5309;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.50;MQRankSum=-1.377e+01;QD=13.66;ReadPosRankSum=-5.061e+00;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,101:282:99:0|1:95927222_G_GAT:3696,0,7296:95927222	1	0	20	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y,	.	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	2.175	M	-1.1	T	-0.487	T	0.446	T	0.443	1.148	9.675	0.578	0.573	0.559	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	99348.43	354	chr2	95927268	.	C	A	99348.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.669e+00;DP=6340;ExcessHet=43.6797;FS=3.258;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.67;MQRankSum=-1.545e+01;QD=15.78;ReadPosRankSum=-3.350e+00;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,127:331:99:0|1:95927222_G_GAT:4698,0,8163:95927222	1	0	20	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N,	.	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	P	2.135	M	-1.07	T	-0.030	T	0.463	T	0.042	2.046	12.80	0.578	0.573	1.620	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	100976.43	370	chr2	95927277	.	C	T	100976.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-6.195e+00;DP=6692;ExcessHet=43.6797;FS=2.488;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.63;MQRankSum=-1.581e+01;QD=15.46;ReadPosRankSum=-7.660e-01;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,132:337:99:0|1:95927222_G_GAT:4804,0,8109:95927222	1	0	20	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G,	.	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	P	.	.	-1.41	T	-0.324	T	0.401	T	0.195	1.779	11.91	0.871	0.621	1.851	3.983	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	41574.43	202	chr2	95929092	.	T	C	41574.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.846;DP=3927;ExcessHet=43.6797;FS=3.785;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.18;MQRankSum=-9.680e+00;QD=10.76;ReadPosRankSum=-3.033e+00;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,66:191:99:.:.:2282,0,4904	1	0	20	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T,	.	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,69:212:99:0|1:95929110_A_G:2467,0,5775:95929110	1	0	20	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y,	.	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,88:243:99:0|1:95929110_A_G:3229,0,6244:95929110	1	0	20	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E,	.	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,95:249:99:0|1:95929110_A_G:3525,0,6180:95929110	1	0	20	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N,	.	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,99:258:99:0|1:95929110_A_G:3669,0,6354:95929110	1	0	20	0
chr2	96291879	96291879	G	A	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon17:c.C2182T:p.R728W,	Retinitis pigmentosa 33, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.815	H	-2.59	D	0.998	D	0.908	D	0.976	3.993	20.5	3.32	0.432	1.199	14.255	0.803	0.662145270691	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773041177	7.525e-06	7.524e-06	8.168e-06	6.875e-06	4.472e-05	4.04e-06	2.95e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	1.874e-05	0	6.295e-06	0	1.159e-05	1.972e-05	1.97e-05	0	4.036e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	9.423e-05	0	1.47e-05	0	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	4.975	0.99847	H	-2.59	0.89822	D	-7.67	0.95542	D	0.964	0.97426	0.998	0.97156	D	0.908	0.96962	D	10	0.95510066	0.94867	D	0.662145	0.97164	D	0.803	0.93582	0.715	0.85051	0.951863511106	0.95135	0.8693082696466597	0.86895	2.15754632586	0.95358	0.931702017784	0.99081	D	0.929781	0.98804	D	0.320472	0.84505	D	0.398406	0.92061	D	0.998098909854889	0.93215	D	0.99594	0.98606	D	0.90422976	0.91764	0.8280073	0.90055	0.90422976	0.91765	0.8280073	0.90056	-10.847	0.78812	D	0.9974487439733444	0.99956	0.999	0.97850	P	.	.	5.500971	0.91587	32	0.99920376429895041	0.98721	0.93215	0.57626	D	AEFDBCI	0.707012	0.66188	D	0.753362295421452	0.83122	7.935741	0.597963633009503	0.74793	6.197972	0.981104760177433	0.30218	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	3.32	0.37134	1.243000	0.32370	5.541000	0.48869	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.4838:0.5162	14.255	0.65595	291	0.88420	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1657.98	38	chr2	96291879	.	G	A	1657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.890e-01;DP=909;ExcessHet=0.0000;FS=1.922;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=1.06;SOR=0.549	GT:AD:DP:GQ:PL	0/1:94,74:168:99:1672,0,2295	20	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8326.47	128	chr2	97185336	.	GC	G	8326.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-1.019e+00;DP=2996;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.34;MQRankSum=-5.879e+00;QD=3.14;ReadPosRankSum=0.218;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,36:132:99:0|1:97185336_GC_G:1223,0,3923:97185336	3	0	18	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X,	.	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.980	20.4	-2.12	-0.664	0.022	1.483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	8253.51	130	chr2	97185340	.	C	G	8253.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-6.260e-01;DP=3017;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.09;MQRankSum=-5.804e+00;QD=3.07;ReadPosRankSum=0.809;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,36:135:99:0|1:97185336_GC_G:1214,0,4049:97185336	3	0	18	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8208.47	129	chr2	97185341	.	A	AG	8208.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-5.080e-01;DP=3032;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.00;MQRankSum=-5.688e+00;QD=3.04;ReadPosRankSum=0.926;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,36:138:99:0|1:97185336_GC_G:1205,0,4175:97185336	3	0	18	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8186.47	138	chr2	97185345	.	GTAAT	G	8186.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.550e-01;DP=3160;ExcessHet=30.0624;FS=4.006;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.27;MQRankSum=-5.168e+00;QD=2.89;ReadPosRankSum=1.92;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,39:149:99:0|1:97185336_GC_G:1306,0,4501:97185336	3	0	18	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E,	.	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.996	D	0.981	D	.	.	1.000	N	1.04	L	2.27	T	-1.043	T	0.055	T	0.127	0.368	5.998	0.142	0.033	0.116	4.893	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	2721.84	153	chr2	97243982	.	A	G	2721.84	.	AC=10;AF=0.250;AN=40;BaseQRankSum=1.96;DP=2009;ExcessHet=6.5132;FS=12.145;InbreedingCoeff=-0.3324;MLEAC=10;MLEAF=0.250;MQ=38.40;MQRankSum=-3.421e+00;QD=1.82;ReadPosRankSum=0.177;SOR=1.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,9:129:17:0|1:97243981_C_T:17,0,5012:97243981	10	0	10	1
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V,	.	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.566	P	0.11	B	.	.	1.000	N	-0.695	N	2.35	T	-1.001	T	0.013	T	0.162	0.638	7.428	-0.226	0.036	-0.164	4.757	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	.;.	.	.	.	.	.	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	0.25	3278.89	148	chr2	97243989	.	C	T	3278.89	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.381;DP=2004;ExcessHet=6.5132;FS=9.348;InbreedingCoeff=-0.3333;MLEAC=10;MLEAF=0.250;MQ=38.06;MQRankSum=-3.253e+00;QD=2.26;ReadPosRankSum=0.655;SOR=1.076	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,9:117:53:0|1:97243981_C_T:53,0,4508:97243981	10	0	10	1
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V,	.	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,90:227:99:0|1:97513219_T_C:3367,0,5461:97513219	0	0	20	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E,	.	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	72691.47	317	chr2	97513227	.	T	C	72691.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.090e-01;DP=4346;ExcessHet=51.1880;FS=3.354;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.18;MQRankSum=-4.153e+00;QD=17.02;ReadPosRankSum=0.711;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,96:236:99:0|1:97513219_T_C:3610,0,5569:97513219	0	0	20	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q,	.	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	88962.47	372	chr2	97513244	.	G	T	88962.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.332e+00;DP=4960;ExcessHet=51.1880;FS=2.480;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.54;MQRankSum=-4.334e+00;QD=17.98;ReadPosRankSum=0.505;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,124:277:99:0|1:97513244_G_T:4746,0,5908:97513244	0	0	20	1
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A,	.	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	94248.47	391	chr2	97513253	.	A	G	94248.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.477e+00;DP=5204;ExcessHet=51.1880;FS=3.201;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.63;MQRankSum=-4.517e+00;QD=18.31;ReadPosRankSum=-7.500e-02;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,138:288:99:0|1:97513244_G_T:5282,0,5841:97513244	0	0	20	1
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M,	.	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.5	94578.47	389	chr2	97513254	.	C	T	94578.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.107e+00;DP=5218;ExcessHet=51.1880;FS=3.233;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.64;MQRankSum=-4.596e+00;QD=18.37;ReadPosRankSum=8.000e-03;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,138:287:99:0|1:97513244_G_T:5285,0,5801:97513244	0	0	20	1
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K,	.	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	103442.47	407	chr2	97513268	.	C	T	103442.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-9.430e-01;DP=5451;ExcessHet=51.1880;FS=3.211;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.99;MQRankSum=-5.011e+00;QD=19.09;ReadPosRankSum=-6.100e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,153:309:99:0|1:97513268_C_T:5914,0,6090:97513268	0	0	20	1
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X,	.	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,153:309:99:0|1:97513268_C_T:5914,0,6090:97513268	0	0	20	1
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C,	.	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,152:308:99:0|1:97513268_C_T:5893,0,6093:97513268	0	0	20	1
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K,	.	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,155:312:99:0|1:97513268_C_T:5945,0,6045:97513268	0	0	20	1
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M,	.	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:96,86:182:99:1996,0,2347	0	0	20	1
chr2	98821913	98821913	C	G	exonic	CRACDL	.	nonsynonymous SNV	CRACDL:NM_207362:exon7:c.G2360C:p.R787P,	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.023	B	0.017	B	0.000	N	1.000	N	0.345	N	0.93	T	-1.031	T	0.055	T	0.041	0.932	8.796	-0.038	-0.164	-1.303	5.335	0.103	0.010333340636	.	.	3.386e-05	0	0.0001	0	0	0	0.0016	7.374e-05	3.84e-05	1	26028	rs766219898	5.531e-06	6.156e-06	1.376e-06	9.726e-06	9.47e-05	2.38e-06	1.72e-06	4.662e-05	3.433e-05	0	0	0	0	0	0	0	0	9.47e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.861	0.03399	T	0.023	0.18885	B	0.017	0.18140	B	0.000014	0.00162	N	23.945300	1	0.08975	N	-0.95	0.01262	N	0.93	0.44065	T	2.05	0.00383	N	0.071	0.04426	-1.0308	0.20195	T	0.055	0.23338	T	10	0.01898709	0.00419	T	0.010333	0.26741	T	0.103	0.29403	0.331	0.31681	0.0138822411134	0.00435	0.09521958368895882	0.09453	.	.	0.369897753	0.20817	T	0.003011	0.02412	T	-0.575376	0.00206	T	-0.815955	0.01536	T	0.0222036792548378	0.00932	T	0.327867	0.06820	T	0.09467648	0.22265	0.123149656	0.29698	0.09467648	0.22265	0.123149656	0.29697	-3.196	0.12432	T	.	.	0.084	0.09820	B	.	.	-0.300238	0.02617	0.327	0.56308786725204929	0.05525	0.00514	0.02403	N	AEFDBI	0.026677	0.02047	N	-1.44529470013788	0.02254	0.09933074	-1.43462915621788	0.02912	0.1348656	0.998568095156839	0.37206	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.604944	0.38103	0	.	.	4.76	-0.0376	0.13211	-1.253000	0.02987	-0.174000	0.11198	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2157:0.2126:0.5717:0.0	5.335	0.15255	562	0.71143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	909.98	38	chr2	98821913	.	C	G	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=811;ExcessHet=0.0000;FS=3.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-3.230e-01;SOR=0.357	GT:AD:DP:GQ:PL	0/1:29,36:65:99:924,0,656	20	0	1	0
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,5,0:5:15:120,15,0,120,15,120	3	9	6	2
chr2	106125656	106125656	G	A	exonic	UXS1	.	nonsynonymous SNV	UXS1:NM_001253876:exon3:c.C82T:p.R28C	.	.	423	1097	2	0	0	2	0.000910747	.	.	2198320	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.885	P	0.000	N	1.000	D	3.7	H	-3.53	D	1.073	D	0.928	D	0.966	3.807	19.33	5.1	1.535	5.821	15.418	0.907	0.446775150427	0.0002	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs200230406	4.133e-05	4.994e-05	4.3e-05	3.963e-05	0.0002	3.255e-05	2.981e-05	7.964e-05	5.404e-05	0.0002	2.505e-05	0	0	0	0.0002	4.569e-05	0	1.238e-05	7.888e-05	7.881e-05	3.855e-05	0.0001	0.0001	4.498e-05	3.513e-05	6.286e-05	4.301e-05	0.0001	0	0	0	0	0	0	8.82e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.883	0.62825	P	0.000026	0.55875	N	0.157687	1	0.81001	D	4.24	0.98003	H	-3.53	0.94764	D	-6.56	0.94729	D	0.773	0.77039	1.073	0.98681	D	0.928	0.97618	D	10	0.944948	0.93819	D	0.446775	0.94267	D	0.907	0.97474	.	.	0.92771207812	0.92697	0.9298499097708051	0.92962	1.89919045449	0.92792	0.923894047737	0.98605	D	0.938578	0.99018	D	0.52276	0.94996	D	0.513132	0.94922	D	0.997602641582489	0.91964	D	0.995839	0.98641	D	0.6718791	0.76533	0.38225654	0.63216	0.6718791	0.76534	0.38225654	0.63216	-13.722	0.92118	D	.	.	0.596	0.68723	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.240142	0.87974	29.4	0.99889999742379487	0.96436	0.97487	0.75066	D	AEFBI	0.715673	0.66776	D	0.5959875161342	0.72923	5.882846	0.513763785658222	0.68913	5.286423	0.999997087043509	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.97	5.1	0.68917	5.952000	0.70000	9.898000	0.82326	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0666:0.0:0.9334:0.0	15.418	0.74707	964	0.07719	.;NAD(P)-binding domain;.;NAD-dependent epimerase/dehydratase;NAD(P)-binding domain;NAD(P)-binding domain;NAD(P)-binding domain;NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	528.98	35	chr2	106125656	.	G	A	528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=769;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.90;ReadPosRankSum=0.733;SOR=0.900	GT:AD:DP:GQ:PL	0/1:44,23:67:99:543,0,1077	20	0	1	0
chr2	106436164	106436164	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon12:c.C1717T:p.P573S,	.	.	141	1372	9	0	0	9	0.00326916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.992	D	.	.	0.638	D	2.075	M	0.43	T	-0.337	T	0.286	T	0.366	2.470	14.22	2.52	1.430	8.115	10.792	0.388	0.0976957232948	.	0.000798722	0.0044	0.0014	0.0014	0	0.0015	0.0068	0.0050	0.0027	0.0013063	34	26028	rs201304359	0.0063	0.0063	0.0065	0.0061	0.0076	0.0062	0.0062	0.0075	0.0074	0.0010	0.0014	0.0006	0	0.0013	0.0015	0.0076	0.0050	0.0030	0.0036	0.0036	0.0041	0.0032	0.0063	0.0034	0.0033	0.0058	0.0056	0.0011	0.0121	0.0021	0	0	0.0010	0.0034	0.0063	0.0043	0.0023	0.076	0.34269	T	0.096	0.39340	T	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.638051	0.32850	D	2.645	0.77386	M	0.43	0.56772	T	-4.7	0.79829	D	0.854	0.85027	-0.3366	0.73942	T	0.286	0.65773	T	9	0.026748925	0.00834	T	0.097696	0.76817	D	0.388	0.70440	.	.	0.21737058555	0.21362	0.06601562632331034	0.06540	.	.	0.659470915794	0.61333	T	0.099796	0.40495	T	-0.327255	0.06322	T	-0.239687	0.50830	T	0.0814774497545075	0.10176	T	0.968103	0.88413	D	0.25900188	0.48951	0.31493145	0.57482	0.25900188	0.48951	0.31493145	0.57482	-9.534	0.71070	D	.	.	0.638	0.70450	P	.;.	.;.	4.231369	0.64084	24.7	0.9981977326991035	0.90238	0.96046	0.67288	D	AEFI	0.699727	0.65698	D	0.447869363654157	0.64080	4.654958	0.322483882324024	0.56862	3.850437	0.00207827672419295	0.09135	0.693126	0.56070	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	2.52	2.52	0.29514	8.268000	0.89807	11.823000	0.97298	0.322000	0.19397	1.000000	0.71638	1.000000	0.68203	0.700000	0.34141	0.0:0.0:1.0:0.0	10.792	0.45642	904	0.23766	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3394.11	33	chr2	106436164	.	G	A	3394.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.92;DP=988;ExcessHet=0.1072;FS=4.281;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=41.52;MQRankSum=-2.533e+00;QD=10.01;ReadPosRankSum=0.929;SOR=0.508	GT:AD:DP:GQ:PL	0/1:106,66:172:99:1537,0,2587	19	0	2	0
chr2	106468264	106468264	C	A	exonic	RGPD3	.	stopgain	RGPD3:NM_001144013:exon1:c.G25T:p.E9X,	.	.	6	1506	10	0	0	10	0.00330907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	3.425	17.58	1.8	0.984	3.375	7.025	.	.	0.0046	0.000998403	0.0049	0.0013	0.0009	0	0.0020	0.0073	0.0062	0.0030	0.0032729	506	154602	rs200527401	0.0063	0.0063	0.0064	0.0061	0.0076	0.0062	0.0061	0.0074	0.0074	0.0010	0.0013	0.0006	0	0.0013	0.0017	0.0076	0.0049	0.0031	0.0036	0.0036	0.0040	0.0031	0.0062	0.0033	0.0032	0.0057	0.0055	0.0011	0.0121	0.0021	0	0	0.0010	0.0034	0.0062	0.0047	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.089	0.06720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176547	0.71724	D	0.483989	0.94285	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.810635	0.96884	36	0.99508253724283346	0.68440	0.59362	0.30894	D	AEFDI	0.040822	0.06125	N	0.520984339305695	0.68330	5.202632	0.20812403011563	0.50297	3.223315	3.42504440729709E-5	0.03775	0.679555	0.55442	0	0.514364	0.08380	0	0.600882	0.32295	2	0.613276	0.41899	0	.	.	1.8	1.8	0.24069	3.158000	0.50422	7.168000	0.57719	0.265000	0.18437	1.000000	0.71638	1.000000	0.68203	0.232000	0.22788	0.0:1.0:0.0:0.0	7.025	0.24113	864	0.32732	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3317.11	34	chr2	106468264	.	C	A	3317.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.921;DP=998;ExcessHet=0.1072;FS=1.008;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=3.17;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,47:93:99:0|1:106468264_C_A:1700,0,1669:106468264	19	0	2	0
chr2	106813156	106813156	A	G	exonic	ST6GAL2	.	nonsynonymous SNV	ST6GAL2:NM_001142352:exon6:c.T1387C:p.W463R,	.	.	477	1038	7	0	0	7	0.00336054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	1.54	T	-1.007	T	0.055	T	0.076	-1.159	0.096	.	0.103	0.780	.	0.042	.	0.0044	0.000798722	0.0067	0.0008	0	0	0.0010	0.0081	0	0.0151	0.0009444	146	154602	rs200605446	0.0059	0.0051	0.0061	0.0058	0.0068	0.0058	0.0058	0.0067	0.0066	0.0008	0.0009	0	0	0.0004	0.0017	0.0068	0.0039	0.0022	0.0033	0.0033	0.0036	0.0031	0.0056	0.0031	0.0030	0.0051	0.0049	0.0011	0.0122	0.0033	0	0	0.0001	0.0035	0.0056	0.0034	0.0019	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	5.5	0.00015	N	0.303	0.34228	-1.0067	0.27943	T	0.055	0.23148	T	4	0.005378127	0.00118	T	.	.	.	0.042	0.11227	0.414	0.45216	0.183819452728	0.17975	.	.	.	.	.	.	.	.	.	.	-0.629577	0.00096	T	-0.669159	0.07662	T	0.0427707527022904	0.04196	T	0.152985	0.01314	T	.	.	.	.	.	.	.	.	-2.445	0.05416	T	.	.	0.189	0.40683	B	.	.	0.298370	0.06740	3.255	0.38758578689221168	0.02633	0.05170	0.10987	N	AEFI	0.026739	0.02061	N	-0.671035362527751	0.16851	0.8621118	-0.907709831414495	0.11912	0.6097471	0.00438912569728279	0.10527	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.820000	0.26979	.	.	0.187000	0.17834	0.327000	0.25564	.	.	0.049000	0.15107	.	.	.	860	0.33753	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3373.12	82	chr2	106813156	.	A	G	3373.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.144;DP=1463;ExcessHet=0.1072;FS=4.132;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=59.91;MQRankSum=1.37;QD=11.96;ReadPosRankSum=0.325;SOR=0.483	GT:AD:DP:GQ:PL	0/1:72,66:138:99:1546,0,1758	19	0	2	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:115,0,104:219:99:.:.:4015,4362,9136,0,4775,4457	3	5	3	0
chr2	109544250	109544250	-	T	exonic	SEPTIN10	.	frameshift insertion	SEPTIN10:NM_001321498:exon12:c.1506dupA:p.L503Tfs*6,	.	.	2	221	2	1	0	4	0.00896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00319489	0.0041	0.0011	0.0052	0.0004	0.0005	0.0059	0.0023	0.0016	0.0013063	34	26028	rs545969753	0.0044	0.0089	0.0045	0.0044	0.0235	0.0043	0.0043	0.0203	0.0190	0.0015	0.0053	0.0010	0.0001	0.0010	0.0235	0.0051	0.0043	0.0010	0.0035	0.0035	0.0036	0.0034	0.0072	0.0033	0.0032	0.0061	0.0057	0.0009	0	0.0072	0.0020	0	0.0008	0.0170	0.0051	0.0072	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1252.94	33	chr2	109544250	.	G	GT	1252.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.860e-01;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=2.52;SOR=0.745	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1267,0,1094	20	0	1	0
chr2	130075518	130075518	G	A	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon17:c.C1954T:p.R652W,	.	.	165	1342	15	0	0	15	0.00555761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.749	P	0.012	B	.	.	1.000	D	1.15	L	2.41	T	-1.017	T	0.022	T	0.226	1.202	9.883	0.993	0.847	0.114	7.879	0.058	0.00186476860802	.	.	6.397e-05	0.0005	0	0	0	5.007e-05	0	0	0.0003074	8	26028	rs764880739	0.0010	0.0015	0.0009	0.0010	0.0101	0.0009	0.0009	0.0076	0.0068	0.0016	0.0012	0.0057	0	0.0004	0.0101	0.0008	0.0021	0.0012	0.0020	0.0032	0.0021	0.0019	0.0024	0.0018	0.0017	0.0018	0.0016	0.0019	0	0.0024	0.0079	0	0.0003	0.0208	0.0020	0.0029	0.0019	0.001	0.78490	D	0.001	0.83351	D	0.749	0.43231	P	0.012	0.16012	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	2.41	0.15492	T	-0.5	0.15782	N	0.19	0.20793	-1.0173	0.24592	T	0.022	0.09330	T	9	0.008178771	0.00185	T	0.001865	0.03245	T	0.058	0.16647	.	.	0.0884992946249	0.08302	0.010486091902430678	0.01009	.	.	0.540157735348	0.44467	T	0.014928	0.12614	T	-0.26333	0.12513	T	-0.616032	0.11501	T	0.011539517315871	0.00174	T	0.0821918	0.00603	T	0.08255812	0.19025	0.10208182	0.24457	0.08255812	0.19025	0.10208182	0.24456	-8.197	0.62405	D	.	.	0.166	0.36554	B	.	.	1.733706	0.22065	15.47	0.92977504634594244	0.22558	0.03356	0.08446	N	AEFI	0.064876	0.12623	N	-0.743732100910856	0.14804	0.7405815	-0.904782868059291	0.11981	0.6136775	2.45300917979074E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.606000	0.05750	.	.	0.309000	0.19094	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.0:1.0:0.0	7.879	0.28773	982	0.03397	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	36.99	123	chr2	130075518	.	G	A	36.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=1767;ExcessHet=0.0000;FS=4.593;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=46.02;MQRankSum=-4.954e+00;QD=0.29;ReadPosRankSum=-2.791e+00;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,11:129:51:0|1:130075518_G_A:51,0,4882:130075518	20	0	1	0
chr2	130077197	130077197	C	T	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon16:c.G1783A:p.E595K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.976	D	0.651	P	.	.	1.000	N	0.805	L	-1.91	D	-0.569	T	0.425	T	0.1	0.740	7.927	0.052	0.005	-0.033	3.511	0.254	.	.	.	0.0048	0.0357	0	0	.	0	0	0	0.0005379	14	26028	rs755767576	0.0022	0.0022	0.0022	0.0023	0.0209	0.0021	0.0021	0.0165	0.0149	0.0135	0.0033	0.0093	0.0008	0.0009	0.0209	0.0018	0.0041	0.0018	0.0067	0.0077	0.0069	0.0065	0.0159	0.0064	0.0062	0.0149	0.0145	0.0159	0	0.0054	0.0103	0	0.0009	0.0276	0.0032	0.0049	0.0035	0.055	0.38407	T	0.0	0.92824	D	0.976	0.58310	D	0.651	0.52497	P	.	.	.	.	1	0.08975	N	2.375	0.68372	M	-1.91	0.84701	D	-0.17	0.09627	N	0.107	0.09207	-0.5686	0.66071	T	0.425	0.76916	T	9	0.0050650835	0.00109	T	.	.	.	0.254	0.56428	0.116	0.02439	0.159798565429	0.15598	0.028376717554403092	0.02787	.	.	0.750440120697	0.74511	T	0.015427	0.12940	T	-0.139085	0.30036	T	-0.437562	0.29082	T	0.0155505372168361	0.00353	T	0.60264	0.22576	T	0.048330206	0.08406	0.06266108	0.12295	0.048330206	0.08406	0.06266108	0.12294	-3.449	0.15725	T	.	.	0.082	0.08851	B	.	.	1.079197	0.14619	11.18	0.89374406225319802	0.18742	0.00405	0.02019	N	AEFI	0.027484	0.02252	N	-0.921945780352676	0.10329	0.4931033	-1.15824607067916	0.06621	0.3193104	1.09586772272045E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.987	0.052	0.13614	-0.103000	0.10909	.	.	-1.070000	0.01595	0.000000	0.06391	0.755000	0.26580	0.024000	0.12247	0.0:0.7144:0.0:0.2856	3.511	0.07267	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	0.04762	60.19	15	chr2	130077197	.	C	T	60.19	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.29;DP=232;ExcessHet=0.1072;FS=3.859;InbreedingCoeff=-0.0531;MLEAC=2;MLEAF=0.048;MQ=25.62;MQRankSum=-2.590e-01;QD=2.74;ReadPosRankSum=0.086;SOR=0.083	GT:AD:DP:GQ:PL	0/1:9,3:12:54:54,0,203	19	0	2	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,263,0:263:99:.:.:8218,790,0,8218,790,8218	4	10	6	0
chr2	130120485	130120485	C	G	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon3:c.G31C:p.A11P,	.	.	429	1054	39	0	0	39	0.0181649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.909	P	0.665	P	.	.	1.000	N	0.895	L	1.07	T	-0.634	T	0.381	T	0.369	1.105	9.510	.	0.149	0.485	.	0.156	.	0.0019	0.00798722	0.0046	0.0196	0.0025	0	0.0023	0.0041	0.0102	0.0028	0.0029584	77	26028	rs201109823	0.0032	0.0032	0.0031	0.0033	0.0315	0.0031	0.0031	0.0277	0.0262	0.0182	0.0033	0.0122	0	0.0014	0.0315	0.0025	0.0054	0.0030	0.0080	0.0080	0.0082	0.0077	0.0182	0.0076	0.0074	0.0171	0.0167	0.0182	0	0.0069	0.0136	0	0.0009	0.0340	0.0037	0.0071	0.0043	0.0	0.91255	D	0.002	0.79402	D	0.909	0.50183	P	0.665	0.52961	P	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-1.51	0.81399	D	-0.65	0.32791	N	0.219	0.31027	-0.6341	0.63397	T	0.381	0.73766	T	7	0.005183339	0.00113	T	.	.	.	0.156	0.40720	.	.	0.101711395817	0.09552	0.022986211366154648	0.02250	.	.	0.474681586027	0.35325	T	0.017655	0.14364	T	-0.322528	0.06693	T	-0.221786	0.52566	T	0.0378075159640915	0.03297	T	0.750425	0.37862	T	0.23493005	0.46320	0.39268032	0.64006	0.23493005	0.46320	0.39268032	0.64006	-3.384	0.14842	T	.	.	0.161	0.35477	B	.;.	.;.	1.710486	0.21783	15.35	0.99195711931916741	0.55112	0.00378	0.01916	N	AEFI	0.057807	0.10798	N	-0.668355262314807	0.16926	0.8667242	-0.938220174050629	0.11197	0.5689714	1.10476958756432E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.899000	0.28049	.	.	0.268000	0.18485	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	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	0.04762	3866.11	43	chr2	130120485	.	C	G	3866.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.510e+00;DP=1118;ExcessHet=0.1072;FS=0.864;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=41.66;MQRankSum=-3.015e+00;QD=11.11;ReadPosRankSum=1.17;SOR=0.768	GT:AD:DP:GQ:PL	0/1:100,84:184:99:2110,0,2671	19	0	2	0
chr2	130182444	130182444	C	A	exonic	MZT2B	.	nonsynonymous SNV	MZT2B:NM_001330282:exon1:c.C162A:p.D54E	.	.	401	1080	41	0	0	41	0.0186279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.026	B	0.034	B	0.000	D	1.000	N	0.83	L	1.77	T	-1.022	T	0.022	T	0.121	2.221	13.38	1.92	0.376	-0.872	4.197	0.069	.	0.0046	0.00638978	0.0085	0.0264	0.0135	0	0	0.0093	0.0325	0.0043	0.0022186	343	154602	rs201954757	0.0023	0.0023	0.0021	0.0024	0.0281	0.0022	0.0022	0.0241	0.0225	0.0120	0.0039	0.0131	0	0.0003	0.0281	0.0015	0.0049	0.0032	0.0056	0.0056	0.0055	0.0056	0.0120	0.0052	0.0051	0.0111	0.0107	0.0120	0	0.0051	0.0147	0	0.0008	0.0510	0.0023	0.0080	0.0044	0.465	0.32610	T	1.0	0.19188	T	0.026	0.19406	B	0.034	0.22546	B	0.000000	0.84330	D	0.050763	0.795725	0.81001	N	1.03	0.25572	L	1.76	0.25996	T	-0.14	0.15986	N	0.057	0.08366	-1.0225	0.22899	T	0.022	0.09513	T	10	0.0068504214	0.00156	T	.	.	.	0.069	0.20116	0.258	0.20002	0.043077524339	0.03247	0.10204147874139245	0.10134	1.82565083264	0.92004	0.887980341911	0.95006	D	0.006435	0.05862	T	-0.586747	0.00175	T	-0.60521	0.12378	T	0.00788897961060119	0.00093	T	0.654835	0.26514	T	0.08224583	0.18937	0.043059155	0.05272	0.08224583	0.18937	0.043059155	0.05272	-1.272	0.01357	T	.	.	0.292	0.55039	B	.;.;.	.;.;.	1.301855	0.17036	12.92	0.98697158533386087	0.44852	0.03534	0.08725	N	AEFDGBCIJ	0.450374	0.50480	N	-0.909412290411064	0.10621	0.5084253	-0.829948027886066	0.13770	0.7161658	0.999999999433808	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.75	1.92	0.24912	0.109000	0.15252	.	.	-0.384000	0.05376	0.994000	0.38300	0.000000	0.08366	0.155000	0.20479	0.0:0.5878:0.1916:0.2206	4.197	0.09906	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	0.02381	699.98	33	chr2	130182444	.	C	A	699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.406;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.957;QD=10.77;ReadPosRankSum=-1.567e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/1:35,30:65:99:714,0,829	20	0	1	0
chr2	130191938	130191938	C	T	exonic	TUBA3E	.	nonsynonymous SNV	TUBA3E:NM_207312:exon5:c.G1246A:p.G416R,	.	.	4	1465	51	2	0	55	0.0184255	.	.	2812331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	2.585	M	-1.87	D	0.591	D	0.735	D	0.733	2.225	13.40	2.96	1.668	6.979	11.691	0.763	0.0211248534557	0.0042	0.00319489	0.0030	0.0062	0.0018	0	0.0006	0.0033	0.0088	0.0028	0.0027037	418	154602	rs138838108	0.0020	0.0020	0.0019	0.0022	0.0322	0.0020	0.0020	0.0285	0.0270	0.0050	0.0025	0.0130	0	0.0003	0.0322	0.0015	0.0040	0.0031	0.0037	0.0037	0.0035	0.0039	0.0057	0.0034	0.0033	0.0051	0.0049	0.0057	0	0.0045	0.0147	0	0.0008	0.0340	0.0022	0.0057	0.0046	.	.	.	0.028	0.54934	D	1.0	0.90584	D	1.0	0.97372	D	0.000150	0.49130	U	0.000000	0.99997	0.53665	D	3.865	0.95877	H	-1.87	0.84415	D	-5.23	0.83899	D	0.744	0.74371	0.591	0.91782	D	0.735	0.90923	D	10	0.025752872	0.00760	T	0.021125	0.43850	T	0.763	0.91962	0.483	0.56462	0.892998195933	0.89194	0.5362431455708786	0.53549	.	.	0.762208938599	0.76258	T	0.249186	0.61909	T	-0.0349682	0.46692	T	0.179606	0.81973	D	0.065163292935135	0.07955	T	0.964804	0.86967	D	0.7548745	0.81152	0.72202504	0.83585	0.7851371	0.82972	0.73509145	0.84344	-13.799	0.92385	D	.	.	0.147	0.32396	B	.	.	3.560391	0.50099	22.9	0.99438955315479338	0.64670	0.94101	0.60115	D	AEFBCI	0.899518	0.84400	D	0.585072249833533	0.72244	5.775051	0.450236725696977	0.64732	4.735255	0.990563525223506	0.32195	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.714379	0.83352	0	.	.	2.96	2.96	0.33383	7.189000	0.77281	.	.	0.505000	0.23025	1.000000	0.71638	0.984000	0.30665	0.046000	0.14843	0.0:1.0:0.0:0.0	11.691	0.50780	982	0.03397	.	.	.	.	.	.	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	0.02381	2426.98	40	chr2	130191938	.	C	T	2426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=2826;ExcessHet=0.0000;FS=5.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.42;MQRankSum=7.78;QD=14.71;ReadPosRankSum=-1.614e+00;SOR=0.404	GT:AD:DP:GQ:PL	0/1:80,85:165:99:2441,0,2215	20	0	1	0
chr2	130763284	130763284	C	A	exonic	AMER3	.	nonsynonymous SNV	AMER3:NM_001105193:exon2:c.C1212A:p.S404R	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.959	D	0.000	D	0.993	N	0.895	L	2.06	T	-1.117	T	0.062	T	0.442	1.508	10.99	2.24	1.342	-0.459	3.854	0.105	0.00597241890129	.	.	8.298e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs754418807	8.211e-06	8.209e-06	2.723e-06	1.375e-05	0.0003	4.38e-06	3.46e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.597e-06	6.623e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.997	0.70673	D	0.959	0.70163	D	0.000302	0.45977	D	0.137926	0.993225	0.23750	N	2.565	0.75005	M	2.06	0.20523	T	-2.59	0.55821	D	0.12	0.11054	-1.1170	0.02531	T	0.062	0.25815	T	10	0.2596112	0.43400	T	0.005972	0.15579	T	0.105	0.29889	0.341	0.33302	0.432379865206	0.42856	0.2955129728239927	0.29464	0.257231272302	0.28296	0.483561217785	0.36547	T	0.190375	0.54489	T	-0.136113	0.30510	T	-0.433294	0.29563	T	0.92137086391449	0.58099	D	0.716728	0.32905	T	0.37992024	0.59311	0.2973066	0.55764	0.37992024	0.59311	0.2973066	0.55763	-5.067	0.37558	T	.	.	0.446	0.62028	A	.;.	.;.	2.051735	0.26084	16.99	0.995839142962753	0.73159	0.14655	0.18517	N	AEFDBI	0.158787	0.28449	N	-0.185221701595359	0.33749	1.918278	-0.28691060153985	0.28529	1.59141	0.15415476085733	0.17489	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.2	2.24	0.27264	-0.369000	0.07588	.	.	-0.182000	0.10109	0.295000	0.25279	0.165000	0.23294	0.010000	0.09038	0.192:0.6107:0.0:0.1973	3.854	0.08477	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2544.98	39	chr2	130763284	.	C	A	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.018e+00;DP=1049;ExcessHet=0.0000;FS=1.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-7.300e-02;SOR=0.878	GT:AD:DP:GQ:PL	0/1:74,97:171:99:2559,0,1880	20	0	1	0
chr2	130914815	130914815	C	T	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001367493:exon2:c.C869T:p.S290L,	.	.	433	1074	13	2	0	17	0.00785219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.0014101	218	154602	rs116650837	0.0101	0.0093	0.0104	0.0099	0.0116	0.0100	0.0099	0.0114	0.0113	0.0016	0.0046	0.0013	5.711e-05	0.0054	0.0032	0.0116	0.0092	0.0042	0.0068	0.0067	0.0073	0.0062	0.0118	0.0064	0.0063	0.0112	0.0109	0.0017	0	0.0044	0.0009	0	0.0041	0	0.0118	0.0090	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044852197	0.00092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002307	0.01700	T	.	.	.	.	.	.	.	.	.	0.429357	0.11628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02765	B	.	.	-0.266321	0.02767	0.374	0.72902924776476974	0.10136	0.00040	0.00335	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999945399905462	0.47345	0.090766	0.02384	0	0.059962	0.00310	0	0.129117	0.03641	0	0.062806	0.01542	0	0.0810911	0.18602	4.58	-0.824	0.10266	0.124000	0.15557	.	.	-1.711000	0.00743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4288:0.0:0.5712	7.741	0.28008	934	0.15400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	376.98	34	chr2	130914815	.	C	T	376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.757;DP=672;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.553;SOR=0.839	GT:AD:DP:GQ:PL	0/1:15,13:28:99:391,0,410	20	0	1	0
chr2	131252927	131252927	T	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.T1606G:p.F536V,	.	.	416	1071	35	0	0	35	0.0160772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.462	P	0.307	B	.	.	1.000	N	0	N	-1.08	T	-0.908	T	0.153	T	0.081	-0.076	3.629	-0.696	-0.835	0.688	.	0.124	.	0.0064	.	0.0161	0.0489	0.0163	0	0.0064	0.0126	0.0368	0.0107	0.0020828	322	154602	rs201546189	0.0023	0.0033	0.0021	0.0025	0.0228	0.0022	0.0022	0.0195	0.0182	0.0161	0.0028	0.0089	0	0.0011	0.0228	0.0017	0.0037	0.0023	0.0061	0.0084	0.0063	0.0059	0.0151	0.0058	0.0056	0.0141	0.0137	0.0151	0	0.0041	0.0099	0	0.0005	0.0241	0.0026	0.0043	0.0025	0.001	0.78490	D	0.087	0.40747	T	0.462	0.36386	P	0.307	0.41295	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.08	0.77078	T	-0.13	0.08971	N	0.3	0.33904	-0.9083	0.47061	T	0.153	0.48257	T	8	0.0038359165	0.00072	T	.	.	.	0.124	0.34239	.	.	0.191931220699	0.18833	0.003083568723920587	0.00287	.	.	0.595366954803	0.52251	T	0.015359	0.12902	T	-0.49042	0.00646	T	-0.461635	0.26420	T	0.0164105266737759	0.00408	T	0.253475	0.03884	T	0.11846394	0.27910	0.19530182	0.43200	0.11846394	0.27910	0.19530182	0.43199	-2.083	0.03512	T	.	.	0.089	0.12371	B	.	.	1.280274	0.16797	12.77	0.7072585159487782	0.09390	0.00468	0.02246	N	AEI	0.026109	0.01904	N	-1.10895542048966	0.06483	0.2985627	-1.27945934883257	0.04709	0.2227442	1.83194705707854E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	0.348	-0.696	0.10719	0.866000	0.27608	.	.	0.488000	0.22294	0.005000	0.17040	0.000000	0.08366	0.010000	0.09038	.	.	.	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2151.11	35	chr2	131252927	.	T	G	2151.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.376;DP=1341;ExcessHet=0.1072;FS=1.394;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=38.27;MQRankSum=0.243;QD=3.25;ReadPosRankSum=0.706;SOR=0.551	GT:AD:DP:GQ:PL	0/1:280,80:360:99:1192,0,6758	19	0	2	0
chr2	134987734	134987734	A	G	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.T799C:p.Y267H	.	.	427	1047	47	1	0	49	0.0228651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.004	B	0.004	B	0.634	N	1.000	N	0.69	N	1.94	T	-1.039	T	0.104	T	0.119	-0.850	0.549	-0.821	-0.036	-0.437	2.434	0.019	.	0.0028	0.00998403	0.0087	0.0006	0.0037	0	0.0012	0.0045	0.0144	0.0416	0.0080594	1246	154602	rs140022497	0.0057	0.0057	0.0044	0.0071	0.0431	0.0056	0.0056	0.0420	0.0415	0.0006	0.0039	0.0036	7.559e-05	0.0011	0.0232	0.0034	0.0063	0.0431	0.0035	0.0035	0.0033	0.0037	0.0327	0.0033	0.0032	0.0286	0.0270	0.0007	0.0011	0.0036	0.0035	0.0006	0.0017	0.0068	0.0035	0.0066	0.0327	0.286	0.17069	T	0.431	0.14679	T	0.003	0.12183	B	0.002	0.10090	B	0.634177	0.05830	N	1.238580	1	0.08975	N	1.445	0.36358	L	-0.42	0.69536	T	-0.97	0.25770	N	0.077	0.05162	-1.0393	0.17526	T	0.104	0.38144	T	10	0.0024988353	0.00038	T	.	.	.	0.019	0.03383	.	.	0.511735687887	0.50815	0.050829714466138445	0.05024	0.14687753787	0.16573	0.226953357458	0.01750	T	0.002246	0.01642	T	-0.573549	0.00211	T	-0.565224	0.15890	T	0.000890545815876997	0.00008	T	0.509849	0.16238	T	0.040088873	0.05657	0.03199676	0.01869	0.040088873	0.05657	0.03199676	0.01869	-3.157	0.13126	T	.	.	0.090	0.24498	B	.;.;.;.	.;.;.;.	-0.279728	0.02708	0.354	0.4493988042106678	0.03491	0.05265	0.11104	N	AEFBI	0.103133	0.20671	N	-1.21234015646499	0.04819	0.2183486	-1.23364004326654	0.05378	0.2560778	6.0288634170171E-4	0.07437	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.87	-0.821	0.10276	-0.684000	0.05275	0.377000	0.17739	-0.587000	0.04669	0.000000	0.06391	0.000000	0.08366	0.419000	0.27206	0.2463:0.4496:0.1853:0.1188	2.434	0.04205	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4749.11	125	chr2	134987734	.	A	G	4749.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=1229;ExcessHet=0.1072;FS=0.828;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=0.686;SOR=0.634	GT:AD:DP:GQ:PL	0/1:84,71:155:99:2000,0,2312	19	0	2	0
chr2	135836998	135836998	C	T	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon1:c.G172A:p.D58N,	Lactase deficiency, congenital, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	1461019	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.0	B	0.671	N	1.000	N	0.345	N	1.73	T	-1.014	T	0.026	T	0.036	-0.144	3.296	-2.83	-0.412	-1.727	1.411	0.080	0.00862323148733	.	.	2.473e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs762559183	2.736e-05	2.736e-05	1.089e-05	4.4e-05	0.0004	2.062e-05	1.816e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.312e-05	0.0004	3.946e-05	3.941e-05	1.285e-05	6.732e-05	0.0012	1.717e-05	1.13e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.642	0.04972	T	0.344	0.17804	T	0.0	0.02946	B	0.0	0.01387	B	0.670513	0.10346	N	0.846349	1	0.08975	N	1.1	0.28011	L	1.73	0.26445	T	-0.26	0.11185	N	0.096	0.07673	-1.0145	0.25497	T	0.026	0.11309	T	10	0.05455911	0.05828	T	0.008623	0.22779	T	0.080	0.23350	0.662	0.79996	0.194818534648	0.19098	0.3087541805073596	0.30788	0.22430122532	0.24958	0.339257121086	0.16327	T	0.240455	0.60878	T	-0.571608	0.00216	T	-0.758528	0.03166	T	0.990036249160767	0.80250	D	0.555844	0.19272	T	0.07193877	0.15964	0.058372986	0.10776	0.07193877	0.15963	0.058372986	0.10776	-3.591	0.17727	T	.	.	0.068	0.02927	B	.	.	0.218021	0.06006	2.448	0.82058948508978791	0.13997	0.03841	0.09191	N	AEFI	0.070527	0.14003	N	-1.13184684747857	0.06084	0.279118	-1.16923419938186	0.06429	0.3094556	0.274296468981257	0.18924	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.16	-2.83	0.05425	-1.347000	0.02739	-1.423000	0.05475	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.2124:0.3521:0.1047:0.3307	1.411	0.02154	230	0.91032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4035.98	43	chr2	135836998	.	C	T	4035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=1064;ExcessHet=0.0000;FS=0.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=1.66;SOR=0.735	GT:AD:DP:GQ:PL	0/1:177,156:333:99:4050,0,4445	20	0	1	0
chr2	140850299	140850299	C	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon29:c.G4742A:p.R1581H,	.	.	.	.	.	.	.	.	.	.	.	3195703	LRP1B-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.927	D	0.000	U	0.993	D	1.76	L	1.47	T	0.277	D	0.642	D	0.374	2.543	14.46	2.73	0.283	0.493	8.676	0.214	0.0356115745632	0.0006	0.00219649	0.0003	0.0028	0.0003	0	0	3.196e-05	0	6.252e-05	0.0003105	48	154602	rs148341635	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	0.0001	0.0032	0.0029	0.0037	0.0001	0	0	0	0.0003	1.625e-05	0.0003	0.0001	0.0008	0.0008	0.0008	0.0008	0.0027	0.0007	0.0006	0.0023	0.0021	0.0027	0	0.0005	0	0	0	0	2.941e-05	0.0009	0	0.13	0.26740	T	0.009	0.66756	D	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.62929	U	0.000000	0.993077	0.41828	D	1.745	0.45235	L	-2.88	0.91533	D	-1.4	0.43334	N	0.296	0.33469	0.277	0.87189	D	0.642	0.87505	D	10	0.009855479	0.00221	T	0.035612	0.56462	D	0.214	0.50650	.	.	0.443653779002	0.43985	0.45730391293202866	0.45648	0.497612009223	0.48259	0.278869837523	0.07335	T	0.142075	0.47747	T	-0.284652	0.10181	T	-0.182497	0.56291	T	0.0484826894038194	0.05230	T	0.770523	0.40040	T	0.080588795	0.18473	0.06959398	0.14681	0.080588795	0.18473	0.06959398	0.14680	-7.605	0.58346	D	.	.	0.070	0.16929	B	.;.	.;.	2.021869	0.25697	16.85	0.98958255108365434	0.49285	0.28780	0.23646	N	AEFI	0.208630	0.33469	N	-0.423245799357377	0.24657	1.332892	-0.434309261854717	0.23998	1.311676	1.05967877847185E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	2.73	0.31266	0.524000	0.22648	.	.	-0.266000	0.06809	0.048000	0.21332	0.000000	0.08366	0.885000	0.42453	0.0:0.6986:0.0:0.3014	8.676	0.33338	930	0.16408	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	430.98	41	chr2	140850299	.	C	T	430.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=746;ExcessHet=0.0000;FS=3.078;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.17;ReadPosRankSum=-5.870e-01;SOR=1.362	GT:AD:DP:GQ:PL	0/1:30,17:47:99:445,0,787	20	0	1	0
chr2	150486775	150486775	C	T	exonic	RND3	.	nonsynonymous SNV	RND3:NM_001254738:exon2:c.G157A:p.V53I	.	.	422	1098	1	1	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.038	B	0.027	B	0.000	D	1.000	D	0.96	L	-0.98	T	-0.723	T	0.276	T	0.49	3.935	20.1	5.39	2.513	7.610	18.138	0.211	0.0190332341532	.	.	8.237e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs759860450	3.907e-05	4.104e-05	2.183e-05	5.648e-05	0.0006	3.053e-05	2.788e-05	0.0005	0.0004	0	0	0	0	0	0.0002	1.803e-06	3.318e-05	0.0006	1.314e-05	1.313e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.062	0.51248	T	0.29	0.21011	T	0.038	0.21002	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.285	0.10073	N	-0.98	0.75789	T	-0.87	0.24026	N	0.509	0.56403	-0.7226	0.59334	T	0.276	0.64824	T	10	0.23024681	0.39971	T	0.019033	0.41279	T	0.211	0.50185	0.408	0.44230	0.715900333207	0.71341	0.39528165249549185	0.39443	0.449415693585	0.44730	0.752177596092	0.74768	T	0.335784	0.70537	T	-0.162905	0.26314	T	-0.143818	0.59785	T	0.145768705652619	0.16762	T	0.940706	0.77799	D	0.349663	0.57041	0.2654891	0.52382	0.349663	0.57041	0.2654891	0.52381	-4.613	0.32335	T	.	.	0.120	0.24867	B	.;.;.;.	.;.;.;.	4.011919	0.59186	24.1	0.9980137476775498	0.88639	0.54779	0.29700	D	AEFDBHCIJ	0.935820	0.93126	D	0.0802728404986665	0.45544	2.809088	0.277226219962097	0.54214	3.586937	1.0	0.98316	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	5.39	5.39	0.77615	7.763000	0.84121	7.610000	0.61877	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.138	0.89561	848	0.35897	Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1746.98	36	chr2	150486775	.	C	T	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=849;ExcessHet=0.0000;FS=0.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.37;SOR=0.777	GT:AD:DP:GQ:PL	0/1:70,71:141:99:1761,0,1546	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	1/1:0,36,0,0:36:99:915,108,0,915,108,915,915,108,915,915	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	1/1:0,36,0,0:36:99:915,108,0,915,108,915,915,108,915,915	1	6	10	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:112,44:170:99:120,0,2297	3	0	15	3
chr2	160137782	160137782	C	T	exonic	ITGB6	.	nonsynonymous SNV	ITGB6:NM_001282354:exon8:c.G1027A:p.V343M	Amelogenesis imperfecta, type IH, Autosomal recessive	.	427	1025	62	8	0	78	0.0366541	.	.	707793	Amelogenesis_imperfecta_type_1H|not_provided	MONDO:MONDO:0014540,MedGen:C4015557,OMIM:616221,Orphanet:88661|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.035	M	-0.45	T	0.169	D	0.481	T	0.699	4.196	21.8	5.2	2.588	3.120	19.113	0.509	.	0.0043	0.00658946	0.0089	0.0014	0.0035	0.0001	0.0012	0.0079	0.0166	0.0287	0.0082793	1280	154602	rs61737764	0.0059	0.0059	0.0051	0.0068	0.0286	0.0058	0.0058	0.0276	0.0273	0.0011	0.0030	0.0084	0.0001	0.0015	0.0277	0.0046	0.0070	0.0286	0.0043	0.0043	0.0039	0.0047	0.0249	0.0040	0.0039	0.0213	0.0199	0.0008	0.0033	0.0032	0.0066	0.0006	0.0012	0.0238	0.0057	0.0071	0.0249	0.003	0.68238	D	0.011	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.345	0.91022	M	-0.45	0.69896	T	-1.8	0.45042	N	0.297	0.34228	0.169	0.85386	D	0.481	0.80170	T	10	0.012100965	0.00261	T	.	.	.	0.509	0.78910	.	.	0.697297187285	0.69468	0.6160951086029223	0.61541	0.0810200920857	0.09117	0.485046923161	0.36752	T	0.771974	0.93904	D	-0.196078	0.21371	T	-0.0327995	0.68183	D	0.0909153406964552	0.11326	T	0.910609	0.69499	D	0.5046076	0.67364	0.3403883	0.59791	0.44955823	0.64013	0.3403883	0.59791	-6.427	0.49884	T	0.7321340703552297	0.81385	0.195	0.41541	B	.;.;.;.;.	.;.;.;.;.	4.120538	0.61586	24.4	0.99910961825783051	0.98022	0.97108	0.72736	D	AEFBI	0.604412	0.59552	D	0.80083389169006	0.86157	8.796558	0.733918385953222	0.84951	8.437762	0.999999989802394	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	3.374000	0.52132	4.071000	0.41665	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	19.113	0.93310	419	0.81524	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;.;Integrin beta subunit, VWA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3173.68	35	chr2	160137782	.	C	T	3173.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.619e+00;DP=885;ExcessHet=0.3300;FS=8.078;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.212;SOR=0.382	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1156,0,1493	18	0	3	0
chr2	168935313	168935313	T	C	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon23:c.A2927G:p.Q976R,	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	285414	ABCB11-related_disorder|not_provided|Progressive_familial_intrahepatic_cholestasis_type_2	.|MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.002	B	0.025	N	1.000	N	-1.495	N	-2.31	D	-0.848	T	0.211	T	0.043	-0.442	1.950	2.24	0.106	0.428	10.062	0.161	0.0630471727963	0.0006	.	0.0005	0.0005	0.0002	0	0.0003	0.0007	0	0.0002	0.0004334	67	154602	rs199940188	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0003	0.0039	0.0034	0.0006	0.0002	0.0055	0	5.618e-05	0.0054	0.0002	0.0008	0.0002	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0	6.534e-05	0.0072	0	9.411e-05	0	0.0003	0.0005	0	0.769	0.03392	T	0.472	0.12176	T	0.0	0.02946	B	0.002	0.06944	B	0.025057	0.26156	N	0.418604	0.999595	0.20909	N	-1.72	0.00341	N	-2.31	0.87750	D	0.91	0.01595	N	0.148	0.15046	-0.8478	0.52120	T	0.211	0.57134	T	10	0.00719887	0.00164	T	0.063047	0.68844	D	0.161	0.41658	.	.	0.517322629239	0.51374	0.5683443633351937	0.56762	0.153187692452	0.17289	0.215077936649	0.01045	T	0.209351	0.56954	T	-0.444391	0.01219	T	-0.522079	0.20084	T	0.00169547739832152	0.00017	T	0.633437	0.24778	T	0.04173554	0.06202	0.068955116	0.14468	0.04173554	0.06201	0.068955116	0.14467	-0.944	0.00939	T	0.038667763551449054	0.00294	0.051	0.00179	B	.;.;.	.;.;.	0.023856	0.04450	1.174	0.5678593571559355	0.05627	0.10433	0.15941	N	AEFBCI	0.129535	0.24775	N	-1.26780466414973	0.04069	0.1829828	-1.0981464927333	0.07737	0.3775207	0.999871348006449	0.44625	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.78	2.24	0.27264	0.429000	0.21131	-0.177000	0.11169	-0.123000	0.13640	0.034000	0.20669	0.000000	0.08366	0.238000	0.22948	0.0:0.6217:0.0:0.3783	10.062	0.41452	847	0.35998	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2332.98	34	chr2	168935313	.	T	C	2332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.810e-01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.868;SOR=0.722	GT:AD:DP:GQ:PL	0/1:88,100:188:99:2347,0,2068	20	0	1	0
chr2	168957993	168957993	A	G	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon19:c.T2314C:p.Y772H,	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.965	M	-2.54	D	0.705	D	0.778	D	0.812	4.000	20.5	5.23	2.100	8.190	14.384	0.882	0.354465477449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.018	0.59732	D	0.999	0.77913	D	0.98	0.74843	D	0.000001	0.84330	D	0.057607	1	0.81001	D	2.69	0.78713	M	-2.54	0.89496	D	-3.88	0.72710	D	0.877	0.87481	0.705	0.93237	D	0.778	0.92450	D	10	0.8489021	0.84062	D	0.354465	0.92354	D	0.882	0.96539	0.64	0.77687	0.93208053216	0.93138	0.7224134575175843	0.72185	0.703745904295	0.61285	0.685399889946	0.65045	T	0.75061	0.93163	D	0.299111	0.82896	D	0.191876	0.82675	D	0.988520205020905	0.78844	D	0.946405	0.79780	D	0.79101366	0.83336	0.7247084	0.83740	0.79101366	0.83338	0.7247084	0.83741	-7.757	0.59403	D	0.5092667073139988	0.58326	0.574	0.67815	P	.;.;.	.;.;.	4.797528	0.77915	26.8	0.99859804803203667	0.93820	0.97955	0.78405	D	AEFI	0.883967	0.81328	D	0.641075497400897	0.75791	6.369053	0.584908171601702	0.73857	6.03965	0.999999976934507	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	8.585000	0.90589	11.046000	0.85237	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	1.0:0.0:0.0:0.0	14.384	0.66500	832	0.38914	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1123.98	33	chr2	168957993	.	A	G	1123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.944;DP=766;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.977;SOR=0.892	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1138,0,1121	20	0	1	0
chr2	176093094	176093094	-	GCGGCA	exonic	HOXD13	.	nonframeshift insertion	HOXD13:NM_000523:exon1:c.204_205insGCGGCA:p.A71_S72insAA,	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant	.	8	704	635	169	6	979	0.408652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0008	0	0	0	0.0013	0.0001035	16	154602	rs775525473	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0009	0.0008	0.0002	7.082e-05	0	0.0001	0	0.0016	7.043e-05	0.0003	0.0011	6.616e-05	6.568e-05	5.173e-05	8.128e-05	0.0006	3.539e-05	2.633e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.907e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	14698.8	35	chr2	176093094	.	G	A,GGCGGCA	14698.8	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.290;DP=1345;ExcessHet=1.3217;FS=0.527;InbreedingCoeff=-0.0027;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.902;SOR=0.632	GT:AD:DP:GQ:PL	1/1:0,68,0:68:99:2028,204,0,2028,204,2028	10	2	8	0
chr2	178436319	178436319	-	TAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCATTC	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon6:c.576_577insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA:p.T193Efs*4	Dystonia 16, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1037095	Dystonia_16	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0007	0.0003	0.0005	0	0.0005	0	0	0.000461	12	26028	.	0.0004	0.0005	0.0003	0.0006	0.0129	0.0004	0.0004	0.0106	0.0097	5.978e-05	8.947e-05	0.0001	0.0007	0.0011	0.0129	0.0004	0.0003	0.0004	0.0010	0.0015	0.0010	0.0010	0.0016	0.0009	0.0008	0.0010	0.0009	0.0005	0.0011	0.0009	0.0006	0.0016	0.0010	0.0068	0.0012	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1646.07	75	chr2	178436319	.	T	TTAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCATTC	1646.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.08;DP=1193;ExcessHet=0.1072;FS=7.603;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.85;ReadPosRankSum=0.217;SOR=0.335	GT:AD:DP:GQ:PL	0/1:69,27:96:99:909,0,2786	19	0	2	0
chr2	178654225	178654225	-	C	exonic	TTN	.	frameshift insertion	TTN:NM_001267550:exon193:c.38362dupG:p.E12788Gfs*9,	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5614.05	35	chr2	178654225	.	T	TC	5614.05	.	AC=2;AF=0.048;AN=42;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=54.83;QD=39.39;SOR=0.839	GT:AD:DP:GQ:PL	1/1:0,159:159:99:5642,478,0	20	1	0	0
chr2	178739713	178739713	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.T12431C:p.M4144T	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	1520	2	0	0	2	0.000657462	.	.	173399	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|not_specified|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.245	L	0.19	T	-0.954	T	0.104	T	0.13	-0.884	0.471	-5.39	-0.542	-1.030	1.424	0.074	0.0289874678886	.	0.000399361	0.0003	0	0	0.0007	0	0.0001	0	0.0016	0.0002717	42	154602	rs191968963	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0002	0.0016	0.0015	0	0.0002	7.653e-05	0.0011	0	0.0021	3.148e-05	0.0002	0.0018	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.698e-05	0.0018	0.0014	0	0.0110	0	0	0	0	0.0034	0	0	0.0029	0.426	0.36310	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.19	0.61923	T	-0.85	0.24026	N	0.086	0.07398	-0.9536	0.40345	T	0.104	0.38267	T	9	0.0034532547	0.00061	T	0.028987	0.51576	D	0.074	0.21613	.	.	0.202086224978	0.19791	.	.	0.096403652367	0.10881	0.252656757832	0.04052	T	.	.	.	-0.549367	0.00294	T	-0.597283	0.13041	T	0.00808433973166748	0.00096	T	0.374163	0.09347	T	.	.	.	.	.	.	.	.	-2.091	0.04194	T	.	.	0.138	0.30184	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.212505	0.03027	0.463	0.55438088709828415	0.05342	0.06624	0.12640	N	AEFBI	0.210464	0.33635	N	-1.35778016950921	0.03045	0.1354131	-1.44082004526987	0.02854	0.1320737	0.991665887834354	0.32566	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.24	-5.39	0.02457	-0.873000	0.04322	.	.	-0.562000	0.04833	0.000000	0.06391	0.000000	0.08366	0.724000	0.34901	0.3239:0.097:0.3101:0.2689	1.424	0.02178	341	0.85936	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4411.08	33	chr2	178739713	.	A	G	4411.08	.	AC=2;AF=0.048;AN=42;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.06;SOR=0.874	GT:AD:DP:GQ:PL	1/1:0,142:142:99:4439,426,0	20	1	0	0
chr2	178750591	178750591	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.A11809C:p.K3937Q,	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	1519	2	0	0	2	0.000657895	.	.	173431	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.53	T	0.012	B	0.017	B	.	.	1.000	N	0.805	L	0.27	T	-1.010	T	0.111	T	0.041	1.944	12.46	4.38	1.024	0.651	6.816	0.035	0.0121698323574	.	0.000399361	0.0003	0	0	0	0	0.0001	0	0.0016	0.0002393	37	154602	rs562658562	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0016	0.0015	0	0.0002	7.665e-05	0	0	0.0023	3.599e-05	0.0003	0.0018	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.71e-05	0.0018	0.0014	0	0.0110	0	0	0	0	0.0034	0	0	0.0029	0.354	0.12148	T	0.309	0.19782	T	0.012	0.16265	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	.	.	.	0.27	0.59176	T	-0.55	0.16799	N	0.122	0.11340	-1.0098	0.26981	T	0.111	0.39794	T	9	0.004091114	0.00080	T	0.01217	0.30502	T	0.035	0.08770	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	.	.	.	-0.575488	0.00205	T	-0.634803	0.10053	T	0.011694859082518	0.00179	T	0.455954	0.13062	T	.	.	.	.	.	.	.	.	-4.169	0.26301	T	.	.	.	.	.	.	.	1.448701	0.18694	13.88	0.88862503579948582	0.18316	0.13472	0.17875	N	AEFGBI	0.102000	0.20472	N	-0.851448582218031	0.12013	0.5830914	-0.814006017306996	0.14156	0.7382448	0.995802419126591	0.34336	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.55	4.38	0.52019	1.150000	0.31250	.	.	0.665000	0.62972	0.003000	0.16062	0.996000	0.32793	0.032000	0.13371	0.0:0.0772:0.1541:0.7687	6.816	0.23013	341	0.85936	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	4242.08	110	chr2	178750591	.	T	G	4242.08	.	AC=2;AF=0.048;AN=42;DP=2515;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.40;SOR=0.879	GT:AD:DP:GQ:PL	1/1:0,127:127:99:4270,381,0	20	1	0	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:20,4,18:42:74:.:.:74,116,806,0,252,216	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:20,4,18:42:74:.:.:74,116,806,0,252,216	0	0	8	4
chr2	196319544	196319546	CTC	-	exonic	HECW2	.	nonframeshift deletion	HECW2:NM_001304840:exon7:c.276_278del:p.R92del	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	.	429	1066	27	0	0	27	0.0125058	.	.	717986	not_provided|HECW2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00159744	0.0035	0.0005	0.0041	0	0.0083	0.0043	0.0110	0.0010	0.00146	38	26028	rs562760525	0.0029	0.0029	0.0029	0.0029	0.0146	0.0028	0.0028	0.0121	0.0111	0.0007	0.0029	0.0023	2.519e-05	0.0087	0.0146	0.0028	0.0036	0.0012	0.0031	0.0031	0.0030	0.0032	0.0040	0.0029	0.0028	0.0036	0.0034	0.0005	0.0011	0.0039	0.0035	0	0.0089	0.0170	0.0040	0.0038	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2710.94	48	chr2	196319543	.	ACTC	A	2710.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=935;ExcessHet=0.0000;FS=1.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.36;ReadPosRankSum=0.975;SOR=0.763	GT:AD:DP:GQ:PL	0/1:70,70:140:99:2725,0,2725	20	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:70,39:109:99:304,0,1113	0	0	19	2
chr2	206310599	206310599	G	C	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.G6071C:p.G2024A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.021	B	0.007	B	.	.	1.000	N	0.69	N	0.87	T	-1.006	T	0.056	T	0.029	-0.726	0.890	0.382	0.050	0.808	9.836	0.042	0.00768241760897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.05262	T	1.0	0.01155	T	0.021	0.18474	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.87	0.46412	T	0.7	0.02163	N	0.047	0.03502	-1.0056	0.28277	T	0.056	0.23488	T	9	0.03392774	0.01583	T	0.007682	0.20378	T	0.042	0.11227	0.192	0.10304	0.126345400529	0.12197	0.025058173669435076	0.02456	0.294698014369	0.31886	0.210206285119	0.00820	T	6.93E-4	0.04506	T	-0.364765	0.03868	T	-0.761736	0.03051	T	0.0203166686583257	0.00731	T	.	.	.	0.0346535	0.03931	0.036905523	0.03233	0.0346535	0.03930	0.036905523	0.03232	-2.998	0.10159	T	.	.	0.087	0.18497	B	.;.;.	.;.;.	0.821247	0.11926	8.487	0.17601757231432108	0.00520	0.00118	0.00744	N	AEFBI	0.017821	0.00495	N	-1.15399047296367	0.05714	0.2612435	-1.16933868876274	0.06427	0.3093611	1.47152857466608E-5	0.02871	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	4.29	0.382	0.15457	0.643000	0.24440	0.961000	0.22991	0.676000	0.76740	0.007000	0.17678	0.000000	0.08366	0.020000	0.11549	0.0:0.4724:0.4482:0.0794	9.836	0.40135	903	0.23940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1471.98	43	chr2	206310599	.	G	C	1471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.120e-01;DP=1036;ExcessHet=0.0000;FS=2.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.266;SOR=0.749	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1486,0,1288	20	0	1	0
chr2	207976867	207976867	C	T	exonic	PLEKHM3	.	nonsynonymous SNV	PLEKHM3:NM_001080475:exon3:c.G1330A:p.A444T,	.	.	433	1081	7	1	0	9	0.00414556	.	.	2379077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.495	L	2.56	T	-0.619	T	0.316	T	0.786	5.072	31	5.57	2.612	7.085	19.548	0.090	0.0190962533871	8.2e-05	.	9.113e-05	0	8.651e-05	0	0	7.494e-05	0	0.0003	7.12e-05	11	154602	rs201268173	6.225e-05	6.225e-05	5.309e-05	7.15e-05	0.0012	5.161e-05	4.78e-05	0.0006	0.0004	0	0.0002	0	0	0	0.0012	4.317e-05	0.0002	0.0002	9.197e-05	9.193e-05	6.422e-05	0.0001	0.0005	5.527e-05	4.364e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	7.348e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	2.56	0.13673	T	-2.76	0.58569	D	0.841	0.83678	-0.6192	0.64022	T	0.316	0.68575	T	10	0.71842	0.73499	D	0.019096	0.41369	T	0.395	0.71004	.	.	0.317526407968	0.31361	0.5609466324766768	0.56021	0.624344103429	0.56642	0.621729671955	0.55974	T	0.69713	0.91246	D	-0.127587	0.31888	T	-0.124854	0.61402	T	0.6705482006073	0.39362	D	.	.	.	0.6926386	0.77655	0.68618435	0.81546	0.6926386	0.77656	0.68618435	0.81547	-7.908	0.60442	D	.	.	0.446	0.62003	A	.;.	.;.	4.458588	0.69369	25.4	0.99943744546614399	0.99868	0.98871	0.87966	D	AEFBI	0.759830	0.69804	D	0.436936300156282	0.63466	4.580863	0.531066759721349	0.70090	5.454498	0.99999999993828	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	7.165000	0.77109	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.548	0.95299	739	0.53257	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1949.98	35	chr2	207976867	.	C	T	1949.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.005e+00;DP=830;ExcessHet=0.0000;FS=2.201;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-1.120e-01;SOR=0.580	GT:AD:DP:GQ:PL	0/1:61,69:130:99:1964,0,1681	20	0	1	0
chr2	218882255	218882255	C	T	exonic	WNT10A	.	nonsynonymous SNV	WNT10A:NM_025216:exon2:c.C208T:p.R70W,	Odontoonychodermal dysplasia, Autosomal recessive;Schopf-Schulz-Passarge syndrome, Autosomal recessive;Tooth agenesis, selective, 4, Autosomal recessive, Autosomal dominant	.	0	1504	17	1	0	19	0.00627684	.	.	284751	WNT10A-related_disorder|Tooth_agenesis,_selective,_4|SchC6pf-Schulz-Passarge_syndrome|Odonto-onycho-dermal_dysplasia|not_provided	.|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400,Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750,Orphanet:50944|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980,Orphanet:2721|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.953	D	0.000	D	1.000	D	3.14	M	-1.08	T	0.320	D	0.637	D	0.756	3.668	18.64	0.679	-0.183	0.471	13.623	0.299	.	0.0014	0.00279553	0.0020	0.0003	0.0017	0	0.0012	0.0018	0.0011	0.0055	0.0019146	296	154602	rs146460077	0.0014	0.0014	0.0012	0.0015	0.0060	0.0013	0.0013	0.0056	0.0054	0.0001	0.0011	0	2.519e-05	0.0014	0.0042	0.0011	0.0015	0.0060	0.0011	0.0011	0.0011	0.0011	0.0081	0.0010	0.0009	0.0061	0.0054	0.0002	0	0.0006	0	0	0.0008	0.0034	0.0014	0.0024	0.0081	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.953	0.69275	D	0.000023	0.55875	D	0.068078	0.999973	0.53665	D	3.435	0.92070	M	-1.08	0.77078	T	-4.05	0.74504	D	0.913	0.91505	0.320	0.87875	D	0.637	0.87313	D	10	0.037638843	0.02130	T	.	.	.	0.707	0.89514	.	.	0.898296813337	0.89728	0.8702632220315178	0.86992	0.419777840034	0.42519	0.74913829565	0.74320	T	0.81634	0.95462	D	-0.144364	0.29199	T	0.0220503	0.71763	D	0.0671734759478568	0.08248	T	0.979302	0.92791	D	0.7039727	0.78274	0.68975693	0.81747	0.7694865	0.82018	0.7239651	0.83698	-9.19	0.68912	D	0.8335943025557462	0.90384	0.286	0.51832	B	.	.	4.460144	0.69407	25.4	0.99765108438073646	0.85417	0.83216	0.42352	D	AEFDGBCI	0.699248	0.65665	D	0.146017693718751	0.48623	3.072358	0.00651769649618139	0.40018	2.381575	0.999990522677494	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.82	0.679	0.17141	0.497000	0.22222	0.901000	0.22550	-0.180000	0.10397	0.995000	0.38783	0.999000	0.35428	0.990000	0.65344	0.5329:0.4671:0.0:0.0	13.623	0.61617	801	0.44448	.	.	.	.	.	.	Likely benign	0	0	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	0.02381	1820.98	36	chr2	218882255	.	C	T	1820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.085;SOR=0.719	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1835,0,2046	20	0	1	0
chr2	232549510	232549510	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G373A:p.A125T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.899	P	0.787	P	.	.	0.996	N	1.355	L	1.56	T	-1.018	T	0.087	T	0.19	1.551	11.14	0.556	0.550	0.441	.	0.055	0.00221796310826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287251917	0	1.575e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	0.04561	T	0.483	0.11795	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.995699	0.23225	N	0.76	0.19266	N	1.56	0.29602	T	-0.16	0.09460	N	0.18	0.19459	-1.0180	0.24366	T	0.087	0.33746	T	8	0.13647899	0.25966	T	0.002218	0.04206	T	0.055	0.15663	0.354	0.35408	0.301789629655	0.29801	0.03610414074900602	0.03557	.	.	0.356378555298	0.18858	T	0.132155	0.46208	T	-0.262038	0.12662	T	-0.614176	0.11647	T	0.215131044387817	0.21218	T	0.524548	0.17205	T	0.055484157	0.10788	0.12149436	0.29314	0.055484157	0.10787	0.12149436	0.29313	-3.001	0.10191	T	.	.	0.075	0.05360	B	.	.	1.128217	0.15144	11.62	0.92923730072353838	0.22486	0.00797	0.03252	N	AEFGBI	0.037701	0.05224	N	-0.367876417896291	0.26620	1.454231	-0.55746153257013	0.20608	1.111072	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	-0.903000	0.06984	-0.178000	0.10482	0.117000	0.23121	0.011000	0.20116	0.123000	0.19290	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	109.63	12	chr2	232549510	.	C	T	109.63	.	AC=3;AF=0.094;AN=32;BaseQRankSum=0.00;DP=241;ExcessHet=0.3300;FS=11.274;InbreedingCoeff=-0.1807;MLEAC=4;MLEAF=0.125;MQ=57.39;MQRankSum=-2.200e+00;QD=4.77;ReadPosRankSum=0.282;SOR=3.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:232549510_C_T:63,0,286:232549510	13	0	3	5
chr2	232549513	232549513	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G370A:p.A124T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.899	P	0.787	P	.	.	1.000	N	2.075	M	1.49	T	-0.995	T	0.105	T	0.23	1.050	9.288	0.556	0.550	0.441	.	0.082	0.00219902448544	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350330081	0	6.293e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	0.04008	T	0.506	0.10967	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.999546	0.21009	N	2.005	0.54552	M	1.49	0.31470	T	-0.79	0.21860	N	0.165	0.17416	-0.9947	0.31379	T	0.105	0.38538	T	8	0.19243413	0.34971	T	0.002199	0.04151	T	0.082	0.23913	0.398	0.42590	0.313518423057	0.30959	0.02492182665721386	0.02443	.	.	0.374947816133	0.21538	T	0.167545	0.51421	T	-0.225216	0.17286	T	-0.561284	0.16256	T	0.35017939762971	0.27026	T	0.530047	0.17581	T	0.09814924	0.23147	0.13288471	0.31878	0.09814924	0.23147	0.13288471	0.31877	-3.021	0.10409	T	.	.	0.099	0.16886	B	.	.	1.250184	0.16471	12.56	0.86624251774057004	0.16661	0.00561	0.02556	N	AEFGBI	0.038874	0.05567	N	-0.395008947537162	0.25645	1.393746	-0.627644686179088	0.18784	1.004976	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	0.859000	0.22211	0.596000	0.33519	0.037000	0.20830	0.014000	0.20376	0.041000	0.14368	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	115.68	12	chr2	232549513	.	C	T	115.68	.	AC=3;AF=0.094;AN=32;BaseQRankSum=1.18;DP=234;ExcessHet=0.3300;FS=11.504;InbreedingCoeff=-0.1832;MLEAC=4;MLEAF=0.125;MQ=57.23;MQRankSum=-2.200e+00;QD=5.51;ReadPosRankSum=0.00;SOR=3.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:232549510_C_T:63,0,286:232549510	13	0	3	5
chr2	232549518	232549518	A	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.T365A:p.V122E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.32	N	1.53	T	-0.973	T	0.011	T	0.137	-1.921	0.008	-1.11	-0.426	-0.489	.	0.018	0.00134953199851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270623677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999798	0.20333	N	-2.72	0.00030	N	1.53	0.30401	T	1.57	0.00677	N	0.126	0.11912	-0.9733	0.36496	T	0.011	0.04227	T	8	0.028942138	0.01023	T	0.00135	0.01936	T	0.018	0.03083	0.431	0.48007	0.0716867268079	0.06686	0.03137575966878789	0.03086	.	.	0.426254749298	0.28696	T	0.121027	0.44369	T	-0.317638	0.07093	T	-0.694041	0.06158	T	0.043319108104939	0.04297	T	0.0547945	0.00394	T	0.18671499	0.40092	0.18082406	0.40906	0.18671499	0.40092	0.18082406	0.40905	0.811	0.00158	T	.	.	0.048	0.00090	B	.	.	-0.225105	0.02965	0.440	0.88682828380446543	0.18171	0.00124	0.00775	N	AEFGBI	0.022880	0.01201	N	-1.76933389965436	0.00624	0.02692902	-1.70214441879084	0.01128	0.05070815	0.999884870920577	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-1.11	0.09336	-0.495000	0.06524	0.069000	0.14235	-0.112000	0.15009	0.117000	0.23121	0.164000	0.23286	0.071000	0.16709	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	111.69	12	chr2	232549518	.	A	T	111.69	.	AC=3;AF=0.094;AN=32;BaseQRankSum=2.10;DP=244;ExcessHet=0.3300;FS=11.560;InbreedingCoeff=-0.1666;MLEAC=3;MLEAF=0.094;MQ=57.34;MQRankSum=-2.362e+00;QD=5.88;ReadPosRankSum=-3.850e-01;SOR=3.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:232549510_C_T:66,0,246:232549510	13	0	3	5
chr2	232549519	232549519	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G364A:p.V122M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.144	B	0.066	B	.	.	1.000	N	0	N	1.48	T	-1.020	T	0.033	T	0.116	0.461	6.504	-0.456	-0.266	0.441	.	0.016	0.00134745809998	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330384880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.009	0.66756	D	0.144	0.27697	B	0.066	0.27432	B	.	.	.	.	0.999933	0.19363	N	0	0.06538	N	1.48	0.31731	T	0.33	0.03889	N	0.091	0.06990	-1.0195	0.23877	T	0.033	0.14377	T	8	0.05338645	0.05521	T	0.001347	0.01936	T	0.016	0.02506	0.378	0.39319	0.0986583533028	0.09354	0.051309855353736146	0.05072	.	.	0.436837911606	0.30145	T	0.137141	0.46992	T	-0.292978	0.09339	T	-0.658619	0.08360	T	0.0629878365535122	0.07631	T	0.339666	0.07323	T	0.07835389	0.17837	0.12504655	0.30133	0.07835389	0.17837	0.12504655	0.30132	-5.584	0.42646	T	.	.	0.099	0.16800	B	.	.	1.745162	0.22204	15.52	0.85008926846249744	0.15630	0.00734	0.03074	N	AEFGBI	0.037686	0.05218	N	-1.11779158903546	0.06326	0.2909238	-1.16808452328762	0.06449	0.3104785	0.999862968112135	0.44398	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-0.456	0.11581	0.442000	0.21343	0.027000	0.13676	-0.180000	0.10397	0.322000	0.25520	0.347000	0.24452	0.171000	0.21011	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	111.62	12	chr2	232549519	.	C	T	111.62	.	AC=3;AF=0.094;AN=32;BaseQRankSum=0.447;DP=244;ExcessHet=0.3300;FS=11.560;InbreedingCoeff=-0.1654;MLEAC=3;MLEAF=0.094;MQ=57.34;MQRankSum=-2.362e+00;QD=5.87;ReadPosRankSum=0.00;SOR=3.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:232549510_C_T:66,0,246:232549510	13	0	3	5
chr2	232549525	232549525	T	C	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.A358G:p.R120G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.65	P	0.415	B	.	.	0.983	N	1.8	L	1.37	T	-1.026	T	0.090	T	0.308	1.026	9.190	0.556	0.465	0.449	.	0.049	0.00253191833817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs988700174	7.622e-06	1.567e-05	8.24e-06	7.09e-06	1.293e-05	1.78e-06	1.2e-06	4.02e-06	2.04e-06	0	0	0	0	0	0	1.293e-05	0	0	6.582e-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	0.317	0.13699	T	0.148	0.32675	T	0.65	0.40644	P	0.415	0.44933	B	.	.	.	.	0.98261	0.24951	N	2.05	0.56469	M	1.37	0.34253	T	-0.55	0.16799	N	0.174	0.18649	-1.0255	0.21919	T	0.090	0.34546	T	8	0.18827486	0.34375	T	0.002532	0.05065	T	0.049	0.13647	0.481	0.56142	0.744681466868	0.74238	0.11256495900239101	0.11184	.	.	0.36315536499	0.19845	T	0.240422	0.60874	T	-0.173133	0.24763	T	-0.48647	0.23762	T	0.338491348514844	0.26564	T	0.59884	0.22311	T	0.12546013	0.29411	0.20061272	0.44001	0.12546013	0.29411	0.20061272	0.44000	-7.723	0.59167	D	.	.	0.120	0.24901	B	.	.	2.182338	0.27816	17.59	0.90259914200950342	0.19530	0.05198	0.11021	N	AEFGBI	0.101547	0.20393	N	-0.316897915568869	0.28507	1.572883	-0.431873427428098	0.24067	1.315899	0.999875630302105	0.44625	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.446000	0.21410	0.877000	0.22363	0.661000	0.55757	0.836000	0.30223	0.845000	0.27336	0.794000	0.37478	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	108.43	12	chr2	232549525	.	T	C	108.43	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.400e-01;DP=248;ExcessHet=0.1072;FS=15.483;InbreedingCoeff=-0.1313;MLEAC=2;MLEAF=0.059;MQ=54.63;MQRankSum=-2.100e+00;QD=6.02;ReadPosRankSum=-2.820e-01;SOR=3.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:232549510_C_T:66,0,246:232549510	15	0	2	4
chr2	232549530	232549530	G	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.C353A:p.A118D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.956	P	0.887	P	.	.	0.923	N	1.935	M	1.29	T	-0.952	T	0.139	T	0.277	1.036	9.231	0.556	0.550	0.529	.	0.081	0.00215114005637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484242912	0	4.69e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.07994	T	0.592	0.08161	T	0.956	0.54666	P	0.887	0.62952	P	.	.	.	.	0.92348	0.27237	N	1.82	0.47800	L	1.29	0.35775	T	-0.09	0.08340	N	0.182	0.19728	-0.9515	0.40712	T	0.139	0.45640	T	8	0.22539988	0.39368	T	0.002151	0.04016	T	0.081	0.23632	0.393	0.41770	0.730657502441	0.72826	0.08914081496926869	0.08847	.	.	0.392814904451	0.24066	T	0.192982	0.54830	T	-0.181875	0.23458	T	-0.499028	0.22448	T	0.284047822348565	0.24341	T	0.464953	0.13579	T	0.42828092	0.62639	0.34581423	0.60259	0.42828092	0.62639	0.34581423	0.60258	-5.1	0.37908	T	.	.	0.115	0.23113	B	.	.	2.606083	0.33840	19.46	0.89761259335368337	0.19078	0.14941	0.18664	N	AEFGBCI	0.071620	0.14265	N	-0.0341153908112047	0.40315	2.392057	-0.20293493821147	0.31431	1.778708	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.531000	0.22759	1.215000	0.24935	0.672000	0.70159	0.916000	0.31843	0.908000	0.28083	0.871000	0.41478	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.06667	115.67	11	chr2	232549530	.	G	T	115.67	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.242e+00;DP=243;ExcessHet=0.1072;FS=12.481;InbreedingCoeff=-0.1497;MLEAC=3;MLEAF=0.100;MQ=56.99;MQRankSum=-2.100e+00;QD=7.23;ReadPosRankSum=-1.026e+00;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:232549510_C_T:66,0,246:232549510	13	0	2	6
chr2	232549541	232549541	-	AAGATCTAGCTAAGATAA	exonic	TIGD1	.	stopgain	TIGD1:NM_145702:exon1:c.341_342insTTATCTTAGCTAGATCTT:p.S115_D591delinsYLS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	69.92	11	chr2	232549541	.	G	GAAGATCTAGCTAAGATAA	69.92	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.800e-01;DP=245;ExcessHet=0.0000;FS=2.774;InbreedingCoeff=-0.0621;MLEAC=1;MLEAF=0.026;MQ=54.48;MQRankSum=-1.282e+00;QD=8.74;ReadPosRankSum=-6.190e-01;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:232549510_C_T:66,0,246:232549510	18	0	1	2
chr2	232549544	232549544	G	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.C339A:p.F113L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.259	B	0.418	B	.	.	0.967	N	2.27	M	1.53	T	-0.927	T	0.101	T	0.376	2.525	14.40	0.556	0.550	0.529	.	0.121	0.00236267652008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.026	0.55759	D	0.259	0.31472	B	0.418	0.45020	B	.	.	.	.	0.967305	0.25854	N	2.62	0.76659	M	1.53	0.30401	T	-4.0	0.74051	D	0.21	0.23380	-0.9270	0.44573	T	0.101	0.37443	T	8	0.280205	0.45595	T	0.002363	0.04590	T	0.121	0.33580	0.554	0.67133	0.432041664125	0.42823	0.12028533142734872	0.11955	.	.	0.545122563839	0.45169	T	0.502106	0.82205	D	-0.129141	0.31636	T	-0.423279	0.30699	T	0.878422856330872	0.52835	D	0.648535	0.25952	T	0.4899004	0.66497	0.5744034	0.75346	0.4899004	0.66498	0.5744034	0.75347	-8.831	0.66603	D	.	.	0.904	0.83029	P	.	.	2.162916	0.27555	17.50	0.98988861745164791	0.49902	0.15745	0.19061	N	AEFGBCI	0.076011	0.15280	N	-0.351092346274497	0.27231	1.49243	-0.423638000178826	0.24306	1.330245	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.531000	0.22759	1.215000	0.24935	0.672000	0.70159	0.935000	0.32453	1.000000	0.68203	0.990000	0.65344	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	66.78	11	chr2	232549544	.	G	T	66.78	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.524;DP=247;ExcessHet=0.0000;FS=2.963;InbreedingCoeff=-0.0597;MLEAC=1;MLEAF=0.025;MQ=54.89;MQRankSum=-1.282e+00;QD=7.42;ReadPosRankSum=-1.282e+00;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:232549510_C_T:63,0,277:232549510	19	0	1	1
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165,0:165:99:.:.:7038,497,0,7038,497,7038	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165,0:165:99:.:.:7038,497,0,7038,497,7038	6	4	10	0
chr2	238252955	238252955	T	A	exonic	PER2	.	nonsynonymous SNV	PER2:NM_022817:exon19:c.A3068T:p.K1023I,	Advanced sleep phase syndrome, familial, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.883	P	0.231	B	0.043	N	0.994	N	1.995	M	2.72	T	-1.014	T	0.034	T	0.159	3.336	17.23	1.94	0.296	0.296	1.388	0.053	0.00523738519651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.26085	T	0.15	0.32461	T	0.883	0.48537	P	0.231	0.38266	B	0.042858	0.01911	N	1.864420	1	0.23527	N	0.805	0.20218	L	2.72	0.11947	T	-2.35	0.51968	N	0.275	0.31140	-1.0139	0.25688	T	0.034	0.14464	T	10	0.12195912	0.23128	T	0.005237	0.13371	T	0.053	0.14996	0.316	0.29258	0.117191471859	0.11215	0.1903503028925259	0.18953	0.524690946668	0.50151	0.378096103668	0.21985	T	0.27506	0.64758	T	-0.26876	0.11895	T	-0.623831	0.10886	T	0.363056719303131	0.27529	T	0.541746	0.18406	T	0.071191944	0.15742	0.06861328	0.14350	0.071191944	0.15741	0.06861328	0.14350	-4.167	0.26272	T	.	.	0.138	0.30238	B	.	.	2.228541	0.28446	17.80	0.98761827892513765	0.45831	0.10969	0.16318	N	AEFDBCI	0.046471	0.07720	N	-0.323464592393238	0.28259	1.557211	-0.43852289009945	0.23876	1.304384	0.993483661507276	0.33233	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.24	1.94	0.25058	0.384000	0.20396	-0.333000	0.09875	0.665000	0.62972	0.012000	0.18695	0.000000	0.08366	0.932000	0.46971	0.1563:0.1089:0.2368:0.4981	1.388	0.02110	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1582.98	36	chr2	238252955	.	T	A	1582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.314e+00;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-8.540e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1597,0,2000	20	0	1	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/2:41,16,26:91:94:597,94,1203,0,422,642	0	0	1	0
chr2	241373241	241373241	A	G	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_001282983:exon2:c.A134G:p.H45R	.	.	427	1047	45	3	0	51	0.0237762	.	.	719777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.002	B	0.855	N	1.000	N	0.51	N	-0.8	T	-0.777	T	0.334	T	0.342	0.765	8.045	-7.7	-0.811	-0.085	10.763	0.174	.	0.0007	0.00359425	0.0034	9.697e-05	0.0009	0.0001	0.0002	0.0013	0.0101	0.0202	0.0028913	447	154602	rs150312458	0.0015	0.0016	0.0010	0.0021	0.0190	0.0015	0.0015	0.0182	0.0179	6.429e-05	0.0006	0.0040	2.674e-05	3.818e-05	0.0100	0.0003	0.0020	0.0190	0.0013	0.0013	0.0010	0.0016	0.0197	0.0011	0.0011	0.0165	0.0153	0.0001	0	0.0007	0.0046	0	0.0002	0.0068	0.0007	0.0047	0.0197	0.316	0.13744	T	0.476	0.13832	T	0.001	0.07471	B	0.001	0.06944	B	0.854686	0.08938	N	0.936529	1	0.08975	N	0.935	0.23595	L	-0.8	0.87591	T	-1.46	0.49684	N	0.218	0.24385	-0.7772	0.56459	T	0.334	0.70101	T	10	0.004382789	0.00089	T	.	.	.	0.174	0.44019	.	.	0.508223314113	0.50461	0.17052013720467224	0.16972	0.0643189233085	0.07168	0.276633054018	0.07027	T	0.053007	0.29322	T	-0.345805	0.04996	T	-0.254565	0.49365	T	0.00849698532556017	0.00103	T	0.549445	0.19458	T	0.025778024	0.01554	0.043584656	0.05456	0.025778024	0.01554	0.043584656	0.05456	-2.43	0.05320	T	.	.	0.073	0.05188	B	.;.;.;.;.	.;.;.;.;.	-0.258881	0.02802	0.385	0.72898659313836633	0.10135	0.07713	0.13715	N	AEFGBHCI	0.092076	0.18644	N	-1.23713783796239	0.04472	0.2018995	-1.27425825751002	0.04781	0.2263567	0.999999937993156	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.3	-7.7	0.01120	-0.086000	0.11198	-0.494000	0.08842	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.766000	0.36367	0.3729:0.4995:0.1276:0.0	10.763	0.45474	988	0.01987	FERM domain|Band 4.1 domain;.;.;FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5921.68	46	chr2	241373241	.	A	G	5921.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.73;DP=1299;ExcessHet=0.3300;FS=0.530;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.055;SOR=0.711	GT:AD:DP:GQ:PL	0/1:94,71:165:99:1878,0,2391	18	0	3	0
chr3	9124908	9124908	G	A	exonic	SRGAP3	.	nonsynonymous SNV	SRGAP3:NM_001033117:exon2:c.C77T:p.T26M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.877	P	0.000	D	1.000	D	0.345	N	2.21	T	-1.096	T	0.050	T	0.201	1.512	11.01	4.82	2.231	3.609	13.289	0.105	0.0262079366832	.	.	3.323e-05	0	0	0.0001	0	0	0	0.0002	2.59e-05	4	154602	rs746793277	1.984e-05	2.052e-05	1.225e-05	2.75e-05	0.0001	1.392e-05	1.203e-05	7.124e-05	5.482e-05	2.987e-05	0	0	0	0	0	1.439e-05	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.25	0.24123	T	0.963	0.55692	D	0.392	0.44215	B	0.000017	0.62929	D	0.111376	0.999997	0.58761	D	0	0.06538	N	2.21	0.18414	T	-1.06	0.27669	N	0.275	0.34659	-1.0956	0.04667	T	0.050	0.21143	T	10	0.22738895	0.39618	T	0.026208	0.49134	D	0.105	0.29889	0.56	0.67958	0.0675242888579	0.06100	0.13420112700493522	0.13344	1.04726596499	0.75992	0.537755727768	0.44128	T	0.202518	0.56071	T	-0.411665	0.01938	T	-0.569425	0.15502	T	0.470678210258484	0.31556	T	0.79842	0.45286	T	0.078491375	0.17877	0.123619825	0.29807	0.078491375	0.17877	0.123619825	0.29806	-5.797	0.45230	T	.	.	0.075	0.06387	B	.;.	.;.	3.776887	0.54279	23.5	0.98527249249388782	0.42545	0.88213	0.48041	D	AEFDBI	0.432783	0.49452	N	0.107839141327412	0.46828	2.917301	0.140997730888562	0.46666	2.909018	0.999998449493659	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.442705	0.06548	1	0.564101	0.26826	0	.	.	4.82	4.82	0.61641	3.613000	0.53894	7.352000	0.58300	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.1592:0.8408:0.0	13.289	0.59697	933	0.16026	F-BAR domain|FCH domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1913.98	37	chr3	9124908	.	G	A	1913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.702e+00;DP=868;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.490;SOR=0.585	GT:AD:DP:GQ:PL	0/1:41,72:113:99:1928,0,1081	20	0	1	0
chr3	9949103	9949103	G	A	exonic	PRRT3	.	nonsynonymous SNV	PRRT3:NM_001318871:exon2:c.C1013T:p.P338L	.	.	433	1081	8	0	0	8	0.00368664	0.7476	0.636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.559	P	0.329	B	0.098	N	0.999	D	1.1	L	1.29	T	-1.103	T	0.077	T	0.273	3.456	17.71	2.05	0.588	0.984	5.286	0.046	0.0372417184463	8.2e-05	.	0.0006	0	0.0002	0	0	0.0003	0	0.0038	0.0004722	73	154602	rs377600710	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0033	0.0032	0	0.0001	3.967e-05	2.52e-05	0	0.0021	0.0001	0.0004	0.0037	0.0002	0.0002	0.0001	0.0003	0.0031	0.0001	0.0001	0.0019	0.0015	0	0	0.0001	0	0.0002	0	0	0.0001	0.0009	0.0031	0.0	0.91255	D	0.005	0.72224	D	0.033	0.38332	B	0.018	0.42046	B	0.097892	0.20006	N	0.458543	0.998573	0.45107	D	1.79	0.46772	L	1.29	0.39401	T	-3.42	0.96707	D	0.25	0.28498	-1.1025	0.03801	T	0.077	0.30859	T	9	0.00602141	0.00135	T	0.037242	0.57497	D	0.046	0.12618	.	.	0.082315109003	0.07666	0.19342266199439337	0.19260	0.130780169279	0.14752	0.391524910927	0.23883	T	0.021021	0.16443	T	-0.441987	0.01259	T	-0.409766	0.32253	T	0.113568298583082	0.13790	T	0.722728	0.33613	T	0.13201118	0.30751	0.15163548	0.35711	0.13201118	0.30751	0.15163548	0.35710	-4.479	0.31318	T	.	.	0.098	0.32226	B	.;.	.;.	3.023888	0.40482	21.2	0.99792090288480573	0.87750	0.68156	0.33696	D	AEFDBI	0.147106	0.27071	N	-0.344907331970427	0.27459	1.506733	-0.326964640371917	0.27231	1.509575	0.999432519565573	0.39683	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	3.92	2.05	0.25860	1.396000	0.34140	3.817000	0.39935	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1141:0.209:0.6768:0.0	5.286	0.15010	625	0.65529	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	823.98	33	chr3	9949103	.	G	A	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.780e-01;DP=800;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.089;SOR=0.579	GT:AD:DP:GQ:PL	0/1:39,34:73:99:838,0,1038	20	0	1	0
chr3	14661587	14661587	G	A	exonic	CCDC174	.	nonsynonymous SNV	CCDC174:NM_016474:exon5:c.G365A:p.R122H,	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive	.	423	1069	29	1	0	31	0.0142923	.	.	708622	not_provided|CCDC174-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.011	B	0.004	B	0.000	N	0.982	D	1.61	L	0.88	T	-1.065	T	0.068	T	0.11	3.373	17.37	3.72	0.615	2.334	9.339	0.041	.	0.0034	0.00658946	0.0055	0.0009	0.0035	0.0002	0.0012	0.0050	0.0022	0.0164	0.0052005	804	154602	rs142816619	0.0049	0.0050	0.0044	0.0055	0.0162	0.0049	0.0048	0.0155	0.0152	0.0016	0.0046	0.0135	0	0.0013	0.0160	0.0043	0.0054	0.0162	0.0039	0.0039	0.0037	0.0042	0.0170	0.0037	0.0036	0.0140	0.0129	0.0013	0	0.0044	0.0118	0.0006	0.0002	0.0204	0.0048	0.0066	0.0170	0.186	0.21467	T	0.08	0.41913	T	0.011	0.15914	B	0.004	0.10090	B	0.000252	0.46924	N	0.175246	0.981804	0.39818	D	1.745	0.45235	L	0.88	0.46412	T	-1.08	0.28084	N	0.157	0.21319	-1.0653	0.10479	T	0.068	0.27743	T	10	0.0043236315	0.00087	T	.	.	.	0.041	0.10877	.	.	0.639104523021	0.63613	0.14316327492055284	0.14239	0.199788861361	0.22381	0.216794580221	0.01133	T	0.026101	0.27364	T	-0.564125	0.00240	T	-0.570129	0.15438	T	0.0136823931805577	0.00255	T	0.886911	0.61435	D	0.031042334	0.02873	0.039528966	0.04066	0.034937356	0.04016	0.039528966	0.04065	-6.261	0.48413	T	.	.	0.088	0.11797	B	.;.;.	.;.;.	2.539914	0.32855	19.17	0.9991133438895361	0.98095	0.80068	0.39807	D	AEFBI	0.100218	0.20157	N	-0.333416735804446	0.27886	1.533608	-0.237167203402987	0.30215	1.699395	0.946795643710127	0.27723	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	3.72	0.41857	2.868000	0.48134	1.230000	0.25036	0.618000	0.50648	1.000000	0.71638	0.070000	0.22201	0.999000	0.91618	0.23:0.0:0.77:0.0	9.339	0.37229	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	0	0	0	0	0.02381	1011.98	34	chr3	14661587	.	G	A	1011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=869;ExcessHet=0.0000;FS=1.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=0.250;SOR=0.540	GT:AD:DP:GQ:PL	0/1:65,44:109:99:1026,0,1588	20	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.003	N	0.870	D	0.69	N	-3.18	D	0.217	D	0.665	D	0.329	3.392	17.45	5.31	2.493	4.693	18.577	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	6188.68	230	chr3	15003967	.	C	G	6188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.434e+00;DP=4026;ExcessHet=9.6308;FS=254.962;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=2.28;SOR=13.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:157,50:207:99:.:.:224,0,4214	8	0	12	1
chr3	29880813	29880813	G	A	exonic	RBMS3	.	nonsynonymous SNV	RBMS3:NM_001177712:exon8:c.G779A:p.R260H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	.	.	1.77	T	-1.035	T	0.028	T	0.05	-0.594	1.342	-7.98	-3.424	-2.686	6.670	0.007	0.00207779122568	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345436755	7.951e-06	7.525e-06	2.854e-06	1.318e-05	5.049e-05	4.27e-06	3.12e-06	1.678e-05	9.94e-06	3.168e-05	0	0	2.799e-05	0	0	4.637e-06	0	5.049e-05	6.576e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.454	0.08891	T	0.489	0.11586	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.77	0.25841	T	0.03	0.06612	N	0.041	0.01421	-1.0347	0.18951	T	0.028	0.12058	T	7	0.047828794	0.04153	T	0.002078	0.03828	T	0.007	0.00512	0.472	0.54699	0.158540857583	0.15491	.	.	.	.	.	.	.	.	.	.	-0.412588	0.01911	T	-0.81016	0.01661	T	0.0368006818978881	0.03121	T	0.386161	0.09499	T	.	.	.	.	.	.	.	.	-0.773	0.00780	T	.	.	0.090	0.12560	B	.	.	-0.823662	0.01061	0.046	0.81484133751689602	0.13708	0.00127	0.00790	N	AEFGI	0.019578	0.00693	N	-1.97695805283681	0.00237	0.01015725	-2.1327084685001	0.00158	0.006950906	0.998035306111438	0.36340	0.553676	0.25195	0	0.588015	0.36545	0	0.615948	0.41167	0	0.620846	0.47308	0	.	.	3.99	-7.98	0.01003	-2.712000	0.00888	-4.085000	0.02351	-2.772000	0.00192	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.1707:0.1996:0.5277:0.102	6.670	0.22254	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2280.98	33	chr3	29880813	.	G	A	2280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=845;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.161;SOR=0.732	GT:AD:DP:GQ:PL	0/1:80,90:170:99:2295,0,1711	20	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/1:0,70,0,0,0,0,0:70:99:3104,209,0,3106,211,3107,3106,211,3107,3107,3106,211,3107,3107,3107,3106,211,3107,3107,3107,3107,3106,211,3107,3107,3107,3107,3107	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/1:0,70,0,0,0,0,0:70:99:3104,209,0,3106,211,3107,3106,211,3107,3107,3106,211,3107,3107,3107,3106,211,3107,3107,3107,3107,3106,211,3107,3107,3107,3107,3107	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/1:0,70,0,0,0,0,0:70:99:3104,209,0,3106,211,3107,3106,211,3107,3107,3106,211,3107,3107,3107,3106,211,3107,3107,3107,3107,3106,211,3107,3107,3107,3107,3107	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/1:0,70,0,0,0,0,0:70:99:3104,209,0,3106,211,3107,3106,211,3107,3107,3106,211,3107,3107,3107,3106,211,3107,3107,3107,3107,3106,211,3107,3107,3107,3107,3107	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/1:0,70,0,0,0,0,0:70:99:3104,209,0,3106,211,3107,3106,211,3107,3107,3106,211,3107,3107,3107,3106,211,3107,3107,3107,3107,3106,211,3107,3107,3107,3107,3107	1	2	2	0
chr3	41715287	41715287	G	A	exonic	ULK4	.	stopgain	ULK4:NM_001322501:exon24:c.C1678T:p.R560X	.	.	440	1079	3	0	0	3	0.00138825	.	.	225811	ULK4-related_disorder|Intellectual_disability,_moderate	.|Human_Phenotype_Ontology:HP:0002342,Human_Phenotype_Ontology:HP:0007303,MedGen:C0026351	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	U	1.000	D	.	.	.	.	.	.	.	.	.	12.107	46	5.62	2.647	1.711	19.657	.	.	0.0032	0.000199681	0.0027	0.0010	8.676e-05	0.0012	0.0060	0.0035	0.0033	0.0016	0.0026778	414	154602	rs199884004	0.0039	0.0039	0.0041	0.0037	0.0045	0.0038	0.0038	0.0044	0.0043	0.0006	0.0001	0.0021	0.0003	0.0054	0.0007	0.0045	0.0035	0.0018	0.0027	0.0027	0.0028	0.0026	0.0043	0.0025	0.0024	0.0039	0.0037	0.0011	0	0.0005	0.0009	0	0.0047	0	0.0043	0.0019	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.383	0.42443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295807	0.82628	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.448151	0.99748	47	0.99852155653353536	0.93102	0.88601	0.48605	D	AEFDI	0.145308	0.26849	N	0.808436302551278	0.86631	8.947759	0.692014076071162	0.81772	7.605485	0.999999997082964	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.62	5.62	0.85714	1.913000	0.39587	9.902000	0.82357	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	19.657	0.95845	761	0.50382	.	.	.	.	.	.	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	0.02381	1584.98	33	chr3	41715287	.	G	A	1584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.151e+00;DP=801;ExcessHet=0.0000;FS=2.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.86;ReadPosRankSum=1.28;SOR=0.400	GT:AD:DP:GQ:PL	0/1:32,62:94:99:1599,0,743	20	0	1	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/4:0,0,32,0,41:73:99:3060,3008,2979,1664,1662,1557,3008,2979,1662,2979,1286,1270,0,1270,1119	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/4:0,0,32,0,41:73:99:3060,3008,2979,1664,1662,1557,3008,2979,1662,2979,1286,1270,0,1270,1119	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	2/4:0,0,32,0,41:73:99:3060,3008,2979,1664,1662,1557,3008,2979,1662,2979,1286,1270,0,1270,1119	1	3	1	0
chr3	43080822	43080822	C	T	exonic	POMGNT2	.	nonsynonymous SNV	POMGNT2:NM_032806:exon2:c.G610A:p.D204N,	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	559517	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8	MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.826	P	0.212	B	0.006	N	0.993	D	1.735	L	-1.18	T	-0.467	T	0.332	T	0.122	3.440	17.64	4.03	0.758	4.912	15.572	0.277	0.024379260285	.	.	3.312e-05	9.747e-05	0	0	0	3.017e-05	0	6.057e-05	2.59e-05	4	154602	rs761923554	3.079e-05	3.078e-05	2.723e-05	3.438e-05	0.0001	2.347e-05	2.095e-05	3.982e-05	2.373e-05	0.0001	0	0	2.519e-05	0	0	3.238e-05	3.312e-05	2.319e-05	1.315e-05	1.314e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.046	0.40573	D	0.069	0.43913	T	0.826	0.45919	P	0.212	0.37394	B	0.006458	0.32025	N	0.370048	0.992855	0.41762	D	2.62	0.76659	M	-1.18	0.78314	T	-2.03	0.46673	N	0.61	0.62696	-0.4669	0.69834	T	0.332	0.69968	T	10	0.5506404	0.64235	D	0.024379	0.47367	T	0.277	0.59375	.	.	0.78262879224	0.78061	0.8366566236348464	0.83625	0.708323350364	0.61548	0.623690247536	0.56250	T	0.316971	0.68846	T	-0.187367	0.22647	T	-0.325388	0.41980	T	0.534298598766327	0.33893	D	0.935306	0.75759	D	0.12998062	0.30342	0.1306088	0.31379	0.12998062	0.30342	0.1306088	0.31378	-8.553	0.64779	D	0.15550357097071624	0.18643	0.169	0.37350	B	.;.	.;.	3.727860	0.53306	23.3	0.99768173908323587	0.85666	0.96268	0.68313	D	AEFBI	0.540914	0.55728	D	0.232709096000669	0.52790	3.451035	0.288974001073548	0.54893	3.653291	0.533731845253646	0.21196	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.88	4.03	0.46115	4.989000	0.63600	2.664000	0.33900	0.599000	0.40250	1.000000	0.71638	0.992000	0.31684	0.998000	0.85391	0.0:0.7389:0.2611:0.0	15.572	0.76087	688	0.59122	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2320.98	38	chr3	43080822	.	C	T	2320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.130e-01;DP=1045;ExcessHet=0.0000;FS=1.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.45;ReadPosRankSum=-1.680e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:49,84:133:99:2335,0,1236	20	0	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	0/2:31,0,34:65:99:1317,1410,2693,0,1283,1180	2	7	11	0
chr3	48432952	48432952	T	G	exonic	CCDC51	.	nonsynonymous SNV	CCDC51:NM_001256964:exon4:c.A692C:p.K231T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.975	D	0.000	D	1.000	D	2.39	M	0.22	T	-0.188	T	0.392	T	0.885	3.871	19.67	5.75	2.185	3.872	15.240	0.376	0.0949561317926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.009	0.67890	D	1.0	0.90584	D	0.975	0.73362	D	0.000000	0.84330	D	0.045197	0.999995	0.58761	D	2.565	0.75005	M	0.22	0.59983	T	-4.36	0.78388	D	0.718	0.72567	-0.1876	0.77989	T	0.392	0.74604	T	10	0.8032145	0.79694	D	0.094956	0.76344	D	0.376	0.69443	0.408	0.44230	0.837392679615	0.83584	0.5693833465723468	0.56866	0.808536611605	0.66620	0.701809763908	0.67405	T	0.356388	0.72325	T	0.277224	0.81079	D	0.160436	0.80834	D	0.989926934242249	0.80142	D	0.90471	0.67793	D	0.51897585	0.68201	0.33450773	0.59275	0.51897585	0.68202	0.33450773	0.59274	-6.769	0.59049	T	.	.	0.759	0.75430	P	.;.;.;.	.;.;.;.	4.161112	0.62489	24.5	0.99784375343054377	0.87043	0.96717	0.70563	D	ALL	0.616321	0.60292	D	0.681764502458037	0.78438	6.871636	0.645153649870544	0.78248	6.838552	0.999999999999795	0.74766	0.716459	0.82106	0	0.696144	0.67643	0	0.73237	0.93354	0	0.636168	0.56350	0	.	.	5.75	5.75	0.90390	3.895000	0.55971	5.015000	0.46700	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.0:0.0:1.0	15.240	0.73159	15	0.98792	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1513.98	42	chr3	48432952	.	T	G	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.705e+00;DP=935;ExcessHet=0.0000;FS=1.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-1.031e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/1:68,63:133:99:1528,0,1878	20	0	1	0
chr3	48469163	48469163	C	T	exonic	SHISA5	.	nonsynonymous SNV	SHISA5:NM_001272082:exon4:c.G358A:p.A120T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.708	P	0.087	B	0.130	N	0.599	N	0.805	L	1.46	T	-1.053	T	0.058	T	0.245	3.665	18.63	3.8	1.084	1.061	8.89	0.034	0.00787447195	.	0.000199681	3.322e-05	0	0	0.0001	0	4.536e-05	0	0	2.59e-05	4	154602	rs181812731	3.698e-05	3.899e-05	4.087e-05	3.304e-05	5.038e-05	2.897e-05	2.595e-05	3.343e-05	2.956e-05	0	0	0	5.038e-05	0	0	4.317e-05	4.969e-05	1.159e-05	6.57e-06	6.562e-06	0	1.344e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.106	0.31532	T	0.34	0.21478	T	0.584	0.38894	P	0.04	0.23831	B	0.130040	0.18674	N	0.570861	0.599	0.32518	D	1.78	0.46185	L	1.46	0.46412	T	-1.32	0.33598	N	0.207	0.25989	-1.0530	0.13574	T	0.058	0.24204	T	10	0.06577343	0.08923	T	0.007874	0.20877	T	0.034	0.08419	.	.	0.589070934736	0.58582	0.18835402619465583	0.18753	0.140115118664	0.15791	0.443482547998	0.31052	T	0.149616	0.48870	T	-0.347603	0.04880	T	-0.472656	0.25230	T	0.0725125385774479	0.08999	T	0.565243	0.19970	T	0.11858205	0.27936	0.09588489	0.22761	0.11858205	0.27935	0.09588489	0.22760	-4.651	0.35271	T	.	.	0.073	0.04599	B	.;.;.;.;.;.	.;.;.;.;.;.	2.769935	0.36358	20.2	0.99874427450750769	0.95160	0.57688	0.30442	D	AEFDBHCI	0.270211	0.38633	N	-0.259513320616983	0.30724	1.715932	-0.175027699054182	0.32459	1.846798	0.999999925986829	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	3.8	0.42887	1.126000	0.30958	0.034000	0.13773	0.596000	0.33519	0.770000	0.29357	0.002000	0.18203	0.856000	0.40543	0.0:0.8943:0.0:0.1057	8.89	0.34587	13	0.98894	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	630.02	34	chr3	48469163	.	C	T	630.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=718;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=0.997;SOR=0.657	GT:AD:DP:GQ:PL	0/1:31,23:54:99:644,0,858	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	2/2:0,0,96:96:99:4292,4292,4292,290,290,0	0	4	6	0
chr3	57278633	57278633	A	G	exonic	ASB14	.	nonsynonymous SNV	ASB14:NM_130387:exon1:c.T320C:p.I107T	.	.	.	.	.	.	.	.	.	.	.	2216487	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.918	P	0.697	P	.	.	1.000	D	1.15	L	-0.1	T	-0.439	T	0.272	T	0.571	3.759	19.08	6.07	2.326	5.895	16.641	0.218	0.0239059175957	.	0.000199681	0.0001	0	0	0.0001	0	0	0	0.0010	0.0001229	19	154602	rs577334264	4.104e-05	4.104e-05	2.995e-05	5.225e-05	0.0006	3.244e-05	2.919e-05	0.0005	0.0005	2.987e-05	0	0	0	0	0	1.799e-06	3.312e-05	0.0006	1.313e-05	1.312e-05	0	2.684e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	0.894661	0.36030	D	0.825	0.20901	L	-0.1	0.64264	T	-3.27	0.66436	D	0.759	0.75742	-0.4385	0.70780	T	0.272	0.64360	T	9	0.26298463	0.43772	T	0.023906	0.46889	T	0.218	0.51265	0.453	0.51612	0.427713192076	0.42389	0.48932684236541973	0.48852	0.0698128753947	0.07817	0.734413146973	0.72151	T	0.188611	0.54258	T	-0.244516	0.14778	T	-0.180355	0.56492	T	0.248637151846076	0.22812	T	0.947205	0.79675	D	0.47237867	0.65437	0.5661279	0.74886	0.47237867	0.65437	0.5661279	0.74887	-8.996	0.68968	D	.	.	0.439	0.61649	A	.;.	.;.	4.400792	0.67996	25.2	0.99806217021964994	0.89085	0.96038	0.67252	D	AEFDGBI	0.561516	0.56948	D	0.471319442991618	0.65424	4.820567	0.564902567320661	0.72439	5.810233	0.99560570332393	0.34219	0.676195	0.55175	0	0.379588	0.06130	0	0.564498	0.18976	0	0.633917	0.49826	0	.	.	6.07	6.07	0.98675	5.884000	0.69473	11.226000	0.89934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.641	0.84955	224	0.91330	.;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	3639.98	33	chr3	57278633	.	A	G	3639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=958;ExcessHet=0.0000;FS=0.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=0.121;SOR=0.645	GT:AD:DP:GQ:PL	0/1:134,141:275:99:3654,0,3276	20	0	1	0
chr3	58124374	58124374	G	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon22:c.G3767A:p.R1256Q	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	537427	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.946	P	0.593	P	0.000	D	1.000	D	2.66	M	-2.08	D	0.493	D	0.692	D	0.802	4.848	27.6	5.69	2.696	4.541	13.065	0.608	0.0444380777435	0.0002	.	4.942e-05	0	0	0.0001	0	5.994e-05	0.0011	0	3.88e-05	6	154602	rs148506076	3.215e-05	3.215e-05	2.859e-05	3.575e-05	7.557e-05	2.478e-05	2.22e-05	2.711e-05	2.387e-05	0	0	0	7.557e-05	0	0	3.597e-05	3.311e-05	2.319e-05	3.943e-05	3.94e-05	6.423e-05	1.346e-05	9.655e-05	1.716e-05	1.13e-05	3.25e-05	1.915e-05	9.655e-05	0	0	0	0	0	0	2.939e-05	0	0	0.022	0.50676	D	0.041	0.52389	D	0.751	0.43285	P	0.468	0.46719	P	0.000000	0.84330	D	0.053652	0.999993	0.58761	D	2.85	0.82803	M	-2.08	0.86010	D	-2.81	0.59389	D	0.541	0.56833	0.493	0.90454	D	0.692	0.89371	D	10	0.5886044	0.66252	D	0.044438	0.61487	D	0.608	0.84613	.	.	0.89083720142	0.88976	0.5587694043859588	0.55803	0.293203910045	0.31741	0.35602337122	0.18805	T	0.672977	0.90315	D	0.094706	0.63715	D	0.123964	0.78497	D	0.426488190889359	0.29930	T	0.964504	0.86839	D	0.30175367	0.53061	0.18931778	0.42272	0.30175367	0.53061	0.18931778	0.42271	-8.668	0.65942	D	0.29187601086167	0.38851	0.100	0.17275	B	.;.;.;.;.	.;.;.;.;.	3.973501	0.58361	24.0	0.99946201047111849	0.99901	0.92599	0.56091	D	AEFDGBCI	0.690919	0.65109	D	0.488764183305319	0.66431	4.949428	0.511848766693466	0.68785	5.268413	0.999999999999563	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	5.69	0.88346	4.636000	0.61037	11.842000	0.97836	0.676000	0.76740	0.928000	0.32210	1.000000	0.68203	0.068000	0.16518	0.0733:0.0:0.9267:0.0	13.065	0.58436	415	0.81806	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1636.98	43	chr3	58124374	.	G	A	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.910e-01;DP=826;ExcessHet=0.0000;FS=3.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-6.100e-02;SOR=1.102	GT:AD:DP:GQ:PL	0/1:50,67:117:99:1651,0,1144	20	0	1	0
chr3	58653748	58653748	A	G	exonic	FAM3D	.	nonsynonymous SNV	FAM3D:NM_138805:exon3:c.T47C:p.I16T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.003	B	0.924	N	1.000	N	0	N	1.93	T	-1.026	T	0.069	T	0.418	0.778	8.109	3.1	0.796	2.739	6.747	0.155	0.0102135150005	.	0.000199681	0.0001	0	0	0.0001	0	0	0	0.0008	0.0001035	16	154602	rs567619603	3.9e-05	3.899e-05	3.948e-05	3.851e-05	0.0005	3.047e-05	2.783e-05	0.0004	0.0003	0	0	3.826e-05	2.519e-05	0	0.0002	2.698e-06	0.0002	0.0005	1.313e-05	1.312e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.016	0.63226	D	0.074	0.42976	T	0.001	0.07471	B	0.003	0.08700	B	0.923968	0.08467	N	0.956622	1	0.08975	N	0	0.06538	N	0.66	0.52416	T	-1.86	0.47683	N	0.149	0.15187	-1.0259	0.21788	T	0.069	0.28313	T	10	0.04154092	0.02818	T	0.010214	0.26478	T	0.155	0.40530	0.393	0.41770	0.143124449307	0.13826	0.5103373509591925	0.50955	0.121018444823	0.13633	0.346411317587	0.17391	T	0.035991	0.24335	T	-0.35586	0.04370	T	-0.420984	0.30961	T	0.544060826301575	0.34255	D	0.430157	0.12757	T	0.06220193	0.12966	0.06822648	0.14220	0.06220193	0.12966	0.06822648	0.14219	-3.248	0.13076	T	.	.	0.098	0.16187	B	.;.;.	.;.;.	1.728057	0.21993	15.44	0.51195028100382611	0.04519	0.13685	0.17995	N	AEFDGBI	0.136032	0.25657	N	-1.08172240726726	0.06980	0.3229046	-1.04600107093841	0.08790	0.4339503	0.00673313385030301	0.11294	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.26	3.1	0.34780	2.780000	0.47429	5.842000	0.50257	-0.081000	0.16260	0.088000	0.22533	0.648000	0.25949	0.009000	0.08673	0.8917:0.0:0.1083:0.0	6.747	0.22653	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1594.98	33	chr3	58653748	.	A	G	1594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=810;ExcessHet=0.0000;FS=0.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.34;ReadPosRankSum=-4.300e-02;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,42:92:99:0|1:58653738_T_G:1609,0,1948:58653738	20	0	1	0
chr3	69024072	69024072	G	A	exonic	TMF1	.	nonsynonymous SNV	TMF1:NM_001363879:exon16:c.C3130T:p.L1044F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.96	M	-1.74	D	0.613	D	0.740	D	0.753	3.621	18.43	5.59	2.620	3.905	12.479	0.643	0.100922410156	0.0012	0.000798722	0.0009	0.0003	0.0006	0	0	0.0014	0.0011	0	0.0009444	146	154602	rs185749329	0.0015	0.0015	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0008	0	0	0.0001	0.0009	0.0019	0.0014	0.0002	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0013	0.0012	0.0003	0	0.0012	0	0	0	0	0.0016	0.0019	0	0.004	0.65419	D	0.042	0.50226	D	0.981	0.90584	D	0.91	0.92359	D	0.000001	0.62929	D	0.000000	0.999993	0.58761	D	3.295	0.90403	M	-1.74	0.83413	D	-2.69	0.57435	D	0.772	0.76946	0.613	0.92067	D	0.740	0.91109	D	10	0.02845183	0.00977	T	0.100922	0.77349	D	0.643	0.86435	.	.	0.801806981277	0.79995	0.5967546271295493	0.59606	0.526887597323	0.50308	0.747219204903	0.74037	T	0.618	0.87977	D	-0.0453196	0.45156	T	0.132046	0.79025	D	0.137239343210396	0.16035	T	0.908009	0.70480	D	0.43966225	0.63380	0.42288822	0.66176	0.43966225	0.63381	0.42288822	0.66176	-9.034	0.67935	D	.	.	0.277	0.51014	B	.;.;.	.;.;.	4.575919	0.72242	25.8	0.99883561677599675	0.95892	0.89045	0.49280	D	AEFBI	0.231576	0.35478	N	0.801844660377273	0.86222	8.816389	0.757103487779776	0.86685	8.96968	0.999944269161673	0.47345	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.59	5.59	0.84677	3.968000	0.56516	9.900000	0.82342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1197:0.0:0.8803:0.0	12.479	0.55171	650	0.62973	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1760.08	33	chr3	69024072	.	G	A	1760.08	.	AC=2;AF=0.048;AN=42;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.33;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1788,180,0	20	1	0	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S,	.	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,82:139:99:0|1:75730450_C_T:3272,0,2147:75730450	0	0	20	1
chr3	75730602	75730602	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.G2245A:p.E749K,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333683426	0	1.272e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0100	0.0004	0.0006	0.0044	0.0004	0.0004	0.0029	0.0024	0.0007	0	0.0004	0.0003	0.0010	0.0005	0	0.0002	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	39.15	87	chr3	75730602	.	C	T	39.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.910e-01;DP=1634;ExcessHet=0.0000;FS=2.860;InbreedingCoeff=-0.0278;MLEAC=1;MLEAF=0.024;MQ=54.51;MQRankSum=-5.280e+00;QD=0.39;ReadPosRankSum=-1.818e+00;SOR=1.347	GT:AD:DP:GQ:PL	0/1:89,11:100:53:53,0,3572	20	0	1	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I,	.	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1725.72	84	chr3	75730611	.	G	T	1725.72	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.901;DP=1563;ExcessHet=6.1002;FS=32.590;InbreedingCoeff=-0.3415;MLEAC=10;MLEAF=0.250;MQ=56.09;MQRankSum=-5.845e+00;QD=2.20;ReadPosRankSum=-2.408e+00;SOR=8.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,10:89:99:.:.:173,0,3178	10	0	10	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,34:155:99:0|1:75736884_G_GA:1052,0,4942:75736884	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,35:159:99:0|1:75736884_G_GA:1072,0,5025:75736884	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,40:178:99:0|1:75736920_C_A:1264,0,5654:75736920	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,38:175:99:0|1:75736920_C_A:1183,0,5618:75736920	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:134,40:174:99:802,0,3988	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:124,75:199:99:1686,0,3742	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:128,99:227:99:2023,0,3905	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,106:227:99:0|1:75737092_C_T:4087,0,4749:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,106:225:99:0|1:75737092_C_T:4093,0,4665:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,105:223:99:0|1:75737092_C_T:4054,0,4639:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,95:205:99:0|1:75737092_C_T:3658,0,4333:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,52:159:99:0|1:75737092_C_T:1861,0,4313:75737092	0	0	21	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A	.	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.041	B	0.015	B	.	.	1.000	N	0.2	N	2.5	T	-0.978	T	0.017	T	0.263	-0.128	3.371	0.509	0.160	-3.097	4.801	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2374.81	109	chr3	75737228	.	T	C	2374.81	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.77;DP=2347;ExcessHet=7.7275;FS=19.670;InbreedingCoeff=-0.3588;MLEAC=11;MLEAF=0.262;MQ=57.63;MQRankSum=-9.053e+00;QD=1.98;ReadPosRankSum=-1.729e+00;SOR=2.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,11:126:99:0|1:75737228_T_C:104,0,4717:75737228	10	0	11	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,132:265:99:.:.:5004,0,5108	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,122:269:99:0|1:75737590_A_G:4633,0,5798:75737590	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,138:294:99:0|1:75737590_A_G:5325,0,6135:75737590	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,136:302:99:0|1:75737590_A_G:5211,0,6561:75737590	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,134:294:99:0|1:75737590_A_G:5145,0,6315:75737590	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,118:275:99:0|1:75737590_A_G:4482,0,6237:75737590	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,110:275:99:0|1:75737814_C_T:4059,0,6225:75737814	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,64:238:99:0|1:75737881_T_C:1754,0,6920:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,43:219:99:0|1:75737881_T_C:1158,0,7241:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,39:215:99:0|1:75737881_T_C:1032,0,7238:75737881	0	0	21	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:237,36:273:99:.:.:798,0,9737	3	0	15	3
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F	.	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.888	P	0.346	B	.	.	1.000	N	1.18	L	3.18	T	-1.017	T	0.014	T	0.416	0.583	7.147	-3.58	-1.068	-1.364	4.138	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3611	6970.11	234	chr3	75738053	.	C	A	6970.11	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.270e+00;DP=4323;ExcessHet=11.8493;FS=4.208;InbreedingCoeff=-0.5294;MLEAC=14;MLEAF=0.389;MQ=57.15;MQRankSum=-1.006e+01;QD=2.47;ReadPosRankSum=-1.315e+00;SOR=1.290	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,32:244:99:0|1:75738051_G_T:706,0,8806:75738051	5	0	13	3
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R	.	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	.	.	1.000	N	-0.87	N	3.21	T	-0.915	T	0.007	T	0.332	-1.903	0.008	-0.593	-0.086	-0.759	2.786	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	2892.1	214	chr3	75738071	.	A	G	2892.1	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.740e-01;DP=3983;ExcessHet=3.5521;FS=8.270;InbreedingCoeff=-0.2377;MLEAC=8;MLEAF=0.200;MQ=57.37;MQRankSum=-1.015e+01;QD=1.67;ReadPosRankSum=-1.907e+00;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,20:229:99:0|1:75738051_G_T:211,0,8716:75738051	12	0	8	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C	.	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	1.21	L	3.11	T	-0.989	T	0.016	T	0.343	0.147	4.790	-3.58	-1.677	-0.063	5.171	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	1932.26	212	chr3	75738074	.	G	A	1932.26	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.700e-02;DP=3886;ExcessHet=3.5521;FS=8.966;InbreedingCoeff=-0.2654;MLEAC=8;MLEAF=0.200;MQ=57.53;MQRankSum=-9.911e+00;QD=1.13;ReadPosRankSum=-2.333e+00;SOR=1.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,17:221:99:0|1:75738051_G_T:100,0,8515:75738051	12	0	8	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V	.	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.56	H	0.99	T	-0.796	T	0.314	T	0.499	2.958	15.86	1.91	1.185	4.477	7.900	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	1551.64	205	chr3	75738077	.	A	C	1551.64	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-1.917e+00;DP=3863;ExcessHet=3.5521;FS=11.803;InbreedingCoeff=-0.2553;MLEAC=8;MLEAF=0.200;MQ=57.57;MQRankSum=-9.670e+00;QD=0.92;ReadPosRankSum=-2.700e+00;SOR=1.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,16:222:52:0|1:75738051_G_T:52,0,8602:75738051	12	0	8	1
chr3	75738862	75738862	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A761G:p.Q254R	.	.	410	1102	10	0	0	10	0.00451671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.563	P	0.264	B	.	.	1.000	N	1.32	L	3.4	T	-0.989	T	0.018	T	0.472	0.786	8.143	1.02	0.330	0.848	1.882	0.071	0.000884616217576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283106105	7.232e-05	0.0009	5.367e-05	9.149e-05	0.0009	6.049e-05	5.643e-05	0.0005	0.0004	0	2.805e-05	0.0002	0	2.037e-05	0.0009	3.155e-05	6.917e-05	0.0006	0.0005	0.0011	0.0005	0.0005	0.0038	0.0004	0.0004	0.0024	0.0020	9.625e-05	0	0.0002	0.0038	0	0	0.0034	0.0005	0.0005	0.0038	0.016	0.51853	D	0.329	0.18617	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.24	0.06845	T	-0.45	0.14782	N	0.064	0.03613	-0.9894	0.32753	T	0.018	0.07470	T	9	0.035342604	0.01779	T	8.85E-4	0.00800	T	0.071	0.20720	.	.	0.0138822411134	0.00435	0.005907457050966571	0.00559	.	.	0.415047764778	0.27154	T	.	.	.	-0.129762	0.31533	T	-0.42417	0.30598	T	0.219472870230675	0.21438	T	0.187481	0.01957	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24192	B	.	.	0.025700	0.04461	1.182	0.93998594445757111	0.24092	0.03754	0.09060	N	AEFDBHCI	.	.	.	-0.679949763349119	0.16595	0.8468296	-0.835604802873844	0.13633	0.7083299	0.999996066291213	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.2	1.02	0.19102	0.438000	0.21277	.	.	-1.123000	0.01469	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.273:0.1678:0.0:0.5592	1.882	0.03033	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	377.11	200	chr3	75738862	.	T	C	377.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.720e-01;DP=4348;ExcessHet=0.1072;FS=4.278;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.38;MQRankSum=-3.642e+00;QD=0.63;ReadPosRankSum=0.097;SOR=1.294	GT:AD:DP:GQ:PL	0/1:244,40:284:99:337,0,9105	19	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:98,27:125:99:516,0,3031	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:79,48:127:99:939,0,2080	0	0	21	0
chr3	75783319	75783319	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon2:c.A44G:p.K15R	.	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.0	B	0.0	B	.	.	1.000	N	0.345	N	5.71	T	-0.926	T	0.008	T	0.116	-1.294	0.039	-1.36	-2.651	-3.474	1.476	0.009	0.000564864142892	.	0.000599042	0.0019	0	0	0	0.0067	0.0020	0	0.0019	0.0003816	59	154602	rs200732985	0.0016	0.0016	0.0015	0.0017	0.0025	0.0016	0.0015	0.0019	0.0018	0.0001	0.0017	0.0004	0	0.0048	0.0025	0.0016	0.0013	0.0021	0.0018	0.0018	0.0014	0.0022	0.0040	0.0016	0.0015	0.0032	0.0029	0.0003	0	0.0040	0.0009	0	0.0075	0	0.0015	0.0038	0.0017	0.625	0.05229	T	0.575	0.08654	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.63	0.00800	T	0.16	0.05217	N	0.105	0.08925	-0.9263	0.44673	T	0.008	0.02638	T	9	0.0034832656	0.00062	T	5.65E-4	0.00221	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.44257286191	0.30929	T	.	.	.	-0.362653	0.03982	T	-0.758702	0.03159	T	0.000936598037175086	0.00009	T	0.117088	0.00899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05491	B	.;.	.;.	-0.654536	0.01430	0.085	0.42003831646120476	0.03067	0.00052	0.00397	N	AEFBI	0.032541	0.03697	N	-2.46002138049039	0.00020	0.0008536196	-2.52387715534705	0.00020	0.0008998555	0.999150149960223	0.38592	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.755437	0.99637	0	.	.	0.682	-1.36	0.08610	-3.613000	0.00464	.	.	-2.122000	0.00385	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.44:0.0:0.2484:0.3115	1.476	0.02279	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	0.04762	1639.08	37	chr3	75783319	.	T	C	1639.08	.	AC=2;AF=0.048;AN=42;DP=708;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.06;QD=28.26;SOR=0.762	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1667,174,0	20	1	0	0
chr3	81499145	81499145	C	T	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon15:c.G2017A:p.A673T,	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	237241	not_provided|not_specified|Adult_polyglucosan_body_disease|Glycogen_storage_disease,_type_IV|Glycogen_storage_disease_IV,_classic_hepatic	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:C1856301	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.04	B	0.063	B	0.053	N	1.000	N	0.895	L	-1.03	T	-0.944	T	0.192	T	0.082	2.224	13.39	-6.41	-1.098	-1.432	15.613	0.170	0.0209843052686	0.0051	0.00359425	0.0062	0.0027	0.0026	0	0.0026	0.0092	0.0099	0.0033	0.0053169	822	154602	rs193074572	0.0081	0.0082	0.0082	0.0080	0.0097	0.0080	0.0079	0.0096	0.0095	0.0011	0.0027	0.0014	2.526e-05	0.0033	0.0005	0.0097	0.0061	0.0029	0.0051	0.0051	0.0054	0.0048	0.0084	0.0048	0.0047	0.0078	0.0076	0.0013	0.0011	0.0065	0.0017	0.0002	0.0027	0	0.0084	0.0052	0.0025	0.14	0.29688	T	0.428	0.13792	T	0.04	0.21238	B	0.063	0.27082	B	0.053228	0.22826	N	0.447307	1	0.08975	N	0.725	0.18768	N	-1.03	0.76430	T	0.31	0.04022	N	0.133	0.17002	-0.9436	0.42041	T	0.192	0.54492	T	10	0.0044651926	0.00092	T	0.020984	0.43686	T	0.170	0.43303	.	.	0.582387198248	0.57910	0.2603481956488323	0.25948	0.0302225200915	0.03118	0.327351212502	0.14534	T	0.271486	0.64382	T	-0.51797	0.00452	T	-0.50984	0.21332	T	0.0152593911035752	0.00336	T	0.648535	0.25952	T	0.3072132	0.53543	0.2720019	0.53106	0.25094965	0.48100	0.2300308	0.48092	-2.076	0.03482	T	0.11054611392725656	0.09354	0.073	0.05360	B	.;.	.;.	1.720614	0.21908	15.40	0.96461790017494398	0.29904	0.03797	0.09124	N	AEFBI	0.115306	0.22676	N	-1.03998975745024	0.07785	0.3628444	-1.10618961208121	0.07582	0.3693311	0.997967661421841	0.36249	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.35	-6.41	0.01766	-1.198000	0.03144	-0.333000	0.09875	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.0:0.2238:0.6471:0.1291	15.613	0.76486	721	0.55360	Alpha-amylase/branching enzyme, C-terminal all beta;Alpha-amylase/branching enzyme, C-terminal all beta	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1221.98	33	chr3	81499145	.	C	T	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.300e-02;DP=803;ExcessHet=0.0000;FS=1.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-3.530e-01;SOR=0.513	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1236,0,1151	20	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,33,0:109:99:0|1:98133456_ACCCC_A:550,0,2923,777,3019,3797:98133456	12	0	6	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,33,0:109:99:0|1:98133456_ACCCC_A:550,0,2923,777,3019,3797:98133456	12	0	6	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.232	B	0.355	N	1.000	N	0.99	L	8.7	T	-0.977	T	0.000	T	0.282	-0.269	2.712	-0.991	0.162	-0.392	0.252	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-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	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:76,0,33:109:99:0|1:98133456_ACCCC_A:550,777,3797,0,3019,2923:98133456	3	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:76,0,33:109:99:0|1:98133456_ACCCC_A:550,777,3797,0,3019,2923:98133456	3	0	1	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	378.19	118	chr3	98133459	.	C	G,*	378.19	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-1.973e+00;DP=1992;ExcessHet=6.1002;FS=147.603;InbreedingCoeff=-0.5184;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=2.40;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:76,0,33:109:99:0|1:98133456_ACCCC_A:550,777,3797,0,3019,2923:98133456	3	0	1	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:63,12,0,9,21,0:105:99:.:.:720,161,3045,742,3089,3624,602,1604,2141,1956,0,2810,2945,1480,2864,742,3089,3624,2141,2945,3624	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:63,12,0,9,21,0:105:99:.:.:720,161,3045,742,3089,3624,602,1604,2141,1956,0,2810,2945,1480,2864,742,3089,3624,2141,2945,3624	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:63,12,0,9,21,0:105:99:.:.:720,161,3045,742,3089,3624,602,1604,2141,1956,0,2810,2945,1480,2864,742,3089,3624,2141,2945,3624	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:63,12,0,9,21,0:105:99:.:.:720,161,3045,742,3089,3624,602,1604,2141,1956,0,2810,2945,1480,2864,742,3089,3624,2141,2945,3624	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:63,12,0,9,21,0:105:99:.:.:720,161,3045,742,3089,3624,602,1604,2141,1956,0,2810,2945,1480,2864,742,3089,3624,2141,2945,3624	0	0	5	10
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.053	B	0.261	N	1.000	N	1.715	L	0.99	T	-1.004	T	0.079	T	0.179	-0.795	0.690	0.621	0.219	-0.776	1.131	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:77,0,33:110:99:0|1:98133456_ACCCC_A:547,777,3835,0,3058,2962:98133456	14	0	6	0
chr3	98133463	98133463	C	T	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766T:p.L256F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.026	B	0.119	B	0.261	N	1.000	N	0.865	L	0.99	T	-1.030	T	0.062	T	0.114	-1.253	0.050	0.621	0.219	-0.776	1.131	0.024	0.00115650910057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.41	0.14544	T	0.026	0.19406	B	0.119	0.32162	B	0.261193	0.15311	N	0.542116	1	0.08975	N	-0.23	0.03940	N	0.99	0.41750	T	-1.08	0.28084	N	0.105	0.08925	-1.0300	0.20454	T	0.062	0.25708	T	10	0.04290554	0.03085	T	0.001157	0.01459	T	0.024	0.04979	0.375	0.38830	0.0762999501168	0.06990	0.0487108067063726	0.04814	0.321367064236	0.34338	0.290525436401	0.08999	T	0.00438	0.03788	T	-0.322622	0.06685	T	-0.701201	0.05761	T	0.424735397100449	0.29866	T	0.652935	0.26315	T	0.046653233	0.07844	0.04369084	0.05494	0.046653233	0.07844	0.04369084	0.05494	-3.928	0.22723	T	.	.	0.131	0.34004	B	.;.	.;.	0.632429	0.10007	6.762	0.62397499402890433	0.06952	0.02895	0.07685	N	AEFI	0.070478	0.13993	N	-1.21870644392077	0.04729	0.2140418	-1.22146664885687	0.05566	0.2655665	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:77,0,33:110:99:0|1:98133456_ACCCC_A:547,777,3835,0,3058,2962:98133456	14	0	6	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.007	B	0.626	N	0.999	N	0.55	N	-2.79	D	-0.614	T	0.561	D	0.252	3.430	17.60	5.86	2.241	5.505	14.197	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	566.96	141	chr3	99790960	.	T	C	566.96	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.024e+00;DP=2798;ExcessHet=3.5521;FS=92.750;InbreedingCoeff=-0.2560;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.888;SOR=10.380	GT:AD:DP:GQ:PL	0/1:132,36:168:62:62,0,2563	12	0	8	1
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,15:51:94:.:.:94,0,672	4	0	17	0
chr3	113011101	113011101	T	C	exonic	NEPRO	.	nonsynonymous SNV	NEPRO:NM_001319110:exon3:c.A356G:p.N119S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.01	B	0.007	B	0.151	N	1.000	N	0.315	N	2.58	T	-0.984	T	0.028	T	0.003	-0.804	0.665	-1.57	-0.422	-0.726	9.204	0.014	0.00279220141484	7.7e-05	0.000199681	2.49e-05	0.0002	0	0	0	1.504e-05	0	0	2.59e-05	4	154602	rs199710456	1.369e-06	1.368e-06	2.725e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	6.564e-06	6.561e-06	1.285e-05	0	2.404e-05	0	0	.	.	2.404e-05	0	0	0	0	0	0	0	0	0	0.26	0.20381	T	0.688	0.05958	T	0.01	0.15535	B	0.007	0.12992	B	0.151300	0.02964	N	1.567360	1	0.08975	N	.	.	.	2.58	0.13916	T	-0.07	0.16187	N	0.034	0.03069	-0.9841	0.34045	T	0.028	0.11926	T	10	0.026838869	0.00841	T	0.002792	0.05810	T	0.014	0.01968	.	.	0.110078149338	0.10416	0.09106988901895784	0.09039	0.103715857113	0.11733	.	.	.	0.003288	0.02698	T	-0.528966	0.00389	T	-0.815453	0.01546	T	0.0565578096277274	0.06616	T	0.718628	0.33152	T	0.016445676	0.00198	0.01865127	0.00062	0.016445676	0.00198	0.01865127	0.00062	-2.688	0.07203	T	0.1561290248902674	0.18762	0.065	0.04356	B	.;.	.;.	-0.540151	0.01742	0.130	0.53159270238035905	0.04885	0.02421	0.06840	N	AEFBI	0.046487	0.07725	N	-1.29024383658742	0.03792	0.1700218	-1.31438631045495	0.04244	0.1997433	0.985492524634792	0.30897	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.05	-1.57	0.08055	-0.247000	0.08884	-2.306000	0.03922	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.0:0.4127:0.0:0.5873	9.204	0.36437	454	0.79125	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1395.98	36	chr3	113011101	.	T	C	1395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=1.24;SOR=0.693	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1410,0,1708	20	0	1	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/2:0,22,35,0,0,0:57:99:2320,1432,1359,876,0,913,2324,1439,955,2387,2324,1439,955,2387,2387,2324,1439,955,2387,2387,2387	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/2:0,22,35,0,0,0:57:99:2320,1432,1359,876,0,913,2324,1439,955,2387,2324,1439,955,2387,2387,2324,1439,955,2387,2387,2387	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/2:0,22,35,0,0,0:57:99:2320,1432,1359,876,0,913,2324,1439,955,2387,2324,1439,955,2387,2387,2324,1439,955,2387,2387,2387	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/2:0,22,35,0,0,0:57:99:2320,1432,1359,876,0,913,2324,1439,955,2387,2324,1439,955,2387,2387,2324,1439,955,2387,2387,2387	0	4	0	0
chr3	119191045	119191045	A	G	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon5:c.A409G:p.N137D,	.	.	432	1042	45	3	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.99	D	0.86	P	0.000	D	0.997	D	1.5	L	-1.13	T	-0.790	T	0.015	T	0.388	4.436	23.6	5.55	2.112	4.906	14.525	0.394	.	0.0041	0.0395367	0.0169	0.0012	0.0039	0.1263	0.0011	0.0059	0.0132	0.0296	0.0159894	2472	154602	rs78761311	0.0095	0.0095	0.0089	0.0102	0.1233	0.0094	0.0093	0.1204	0.1192	0.0012	0.0039	0.0189	0.1233	0.0016	0.0206	0.0040	0.0146	0.0320	0.0096	0.0096	0.0087	0.0105	0.1273	0.0092	0.0090	0.1192	0.1160	0.0013	0.0132	0.0056	0.0205	0.1273	0.0008	0.0136	0.0050	0.0132	0.0416	0.551	0.33418	T	0.473	0.13328	T	0.99	0.63424	D	0.86	0.61233	P	0.000054	0.53742	D	0.130780	0.997379	0.43837	D	1.78	0.46185	L	-1.13	0.86815	T	-1.25	0.32791	N	0.484	0.51851	-0.7897	0.55747	T	0.015	0.05946	T	10	0.0016655028	0.00020	T	.	.	.	0.394	0.70924	.	.	.	.	0.8157807269029524	0.81534	0.0496078120372	0.05439	0.483811795712	0.36581	T	0.123975	0.46565	T	-0.3391	0.05451	T	-0.152749	0.59000	T	0.0293694875918715	0.01894	T	0.756624	0.37993	T	0.18363465	0.39641	0.23165466	0.48303	0.18363465	0.39640	0.23165466	0.48302	-3.313	0.13906	T	.	.	0.108	0.26886	B	.;.;.;.;.	.;.;.;.;.	3.760625	0.53956	23.4	0.99692084973768502	0.79977	0.95921	0.66730	D	AEFBI	0.639388	0.61746	D	0.422289372913453	0.62648	4.48438	0.4541350233731	0.64982	4.766575	0.999999992247945	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	4.935000	0.63199	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.525	0.67467	366	0.84579	.;.;.;.;.	.	.	.	.	rs78761311	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2445.11	112	chr3	119191045	.	A	G	2445.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.565e+00;DP=894;ExcessHet=0.1072;FS=0.473;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=1.28;SOR=0.648	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1322,0,1543	19	0	2	0
chr3	119812912	119812912	A	T	exonic	NR1I2	.	nonsynonymous SNV	NR1I2:NM_003889:exon5:c.A746T:p.Y249F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.993	D	0.010	N	1.000	D	1.455	L	-4.04	D	0.743	D	0.878	D	0.32	3.115	16.41	3.06	0.648	2.267	8.099	0.612	0.0988812856358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.26852	T	0.234	0.24840	T	0.987	0.61912	D	0.848	0.60574	P	0.009717	0.30236	N	0.351936	0.999997	0.58761	D	1.275	0.32135	L	-4.04	0.96465	D	-2.02	0.46503	N	0.262	0.34228	0.743	0.93710	D	0.878	0.95948	D	10	0.42817873	0.57314	T	0.098881	0.77015	D	0.612	0.84826	0.52	0.62217	0.821358977847	0.81967	0.45009352322635066	0.44927	0.102938581225	0.11647	0.513308465481	0.40685	T	0.648906	0.89322	D	0.130765	0.67435	D	-0.0499419	0.67026	D	0.574024021625519	0.35389	D	0.785621	0.48098	T	0.22669794	0.45356	0.17653179	0.40194	0.22669794	0.45356	0.17653179	0.40194	-7.026	0.59244	T	.	.	0.157	0.35540	B	.;.;.;.;.	.;.;.;.;.	3.646128	0.51727	23.1	0.98065162956281415	0.37983	0.76429	0.37483	D	AEFDBHCI	0.651387	0.62515	D	0.128599684399934	0.47801	3.000753	0.127179065778494	0.45943	2.848724	0.75227113293187	0.23379	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.542086	0.14980	0	.	.	4.26	3.06	0.34374	2.354000	0.43753	8.781000	0.78246	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8194:0.0:0.0:0.1806	8.099	0.30005	684	0.59539	Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;.;.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1650.98	34	chr3	119812912	.	A	T	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=823;ExcessHet=0.0000;FS=6.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.943;SOR=1.214	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1665,0,1639	20	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.003	B	0.006	B	0.408	N	1.000	N	1.39	L	2.45	T	-1.002	T	0.036	T	0.11	-1.422	0.021	-1.89	-0.182	-1.460	2.032	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4118	1321.45	117	chr3	121697608	.	C	T	1321.45	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-2.821e+00;DP=2409;ExcessHet=14.4320;FS=218.851;InbreedingCoeff=-0.6164;MLEAC=16;MLEAF=0.471;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.342;SOR=12.895	GT:AD:DP:GQ:PL	0/1:94,35:140:99:168,0,1914	3	0	14	4
chr3	121886372	121886372	G	A	exonic	EAF2	.	nonsynonymous SNV	EAF2:NM_001320041:exon5:c.G377A:p.S126N	.	.	.	.	.	.	.	.	.	.	.	733716	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.993	D	0.979	D	0.000	D	1.000	D	2.31	M	.	.	-0.257	T	0.346	T	0.192	4.019	20.6	5.6	2.932	3.950	15.054	0.205	0.0106571620148	0.0020	0.00119808	0.0018	0.0002	0.0005	0	0.0020	0.0029	0.0045	0.0004	0.0018952	293	154602	rs139737449	0.0027	0.0027	0.0026	0.0027	0.0032	0.0026	0.0026	0.0031	0.0031	0.0003	0.0007	4.303e-05	0	0.0018	0	0.0032	0.0019	0.0003	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0020	0.0031	0.0029	0.0008	0.0515	0.0006	0	0	0.0017	0	0.0034	0.0005	0	0.0	0.91255	D	0.012	0.63918	D	0.993	0.65571	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	3.02	0.86243	M	.	.	.	-2.06	0.47175	N	0.294	0.33250	-0.2570	0.76169	T	0.346	0.71091	T	9	0.008835763	0.00200	T	0.010657	0.27451	T	0.205	0.49236	.	.	0.426904299391	0.42305	0.15620536721661477	0.15541	0.0886662407375	0.10026	0.534096479416	0.43612	T	0.379086	0.74191	T	-0.341723	0.05269	T	-0.266374	0.48185	T	0.0827573227583327	0.10336	T	0.825817	0.48860	T	0.5826488	0.71753	0.6022561	0.76888	0.5826488	0.71754	0.6022561	0.76889	-10.387	0.76195	D	.	.	0.444	0.61918	A	.	.	3.783264	0.54409	23.5	0.99497674530562974	0.67859	0.93885	0.59473	D	AEFI	0.459915	0.51032	N	0.78381610389558	0.85081	8.471639	0.763019819377114	0.87127	9.115957	0.920105505261259	0.26622	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	4.096000	0.57463	9.776000	0.81575	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	15.054	0.71563	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	202.0	18	chr3	121886372	.	G	A	202.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=353;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0262;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.423;SOR=0.941	GT:AD:DP:GQ:PL	0/1:9,8:17:99:216,0,187	20	0	1	0
chr3	127014301	127014301	G	A	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon11:c.G2530A:p.A844T,	.	.	409	1111	2	0	0	2	0.000899281	.	.	2350286	not_specified|PLXNA1-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.003	B	0.079	N	0.995	N	0.515	N	2.37	T	-0.977	T	0.023	T	0.052	0.289	5.567	1.82	0.339	0.939	9.503	0.029	0.00602179604429	0.0002	.	0.0004	0	0	0	0	0.0002	0	0.0015	0.0002005	31	154602	rs199523740	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0012	0.0011	0	0	0	2.554e-05	0	0.0010	0.0001	8.359e-05	0.0014	0.0001	0.0001	0.0001	0.0001	0.0006	8.659e-05	7.252e-05	0.0002	8.992e-05	4.811e-05	0.0011	0	0	0.0002	0	0	0.0002	0	0.0006	0.246	0.17353	T	0.589	0.08245	T	0.0	0.02946	B	0.003	0.08700	B	0.078947	0.21013	N	0.424699	0.994545	0.23495	N	0.405	0.12330	N	2.37	0.15964	T	-0.08	0.08187	N	0.045	0.01740	-0.9774	0.35593	T	0.023	0.09923	T	10	0.013095558	0.00279	T	0.006022	0.15728	T	0.029	0.06676	.	.	0.110392049598	0.10638	0.25958679515335603	0.25872	0.410057775964	0.41802	0.567321658134	0.48299	T	0.054586	0.29766	T	-0.66416	0.00059	T	-0.756875	0.03226	T	0.0206267298002609	0.00762	T	0.165083	0.01523	T	0.025216216	0.01434	0.050659414	0.07996	0.025216216	0.01433	0.050659414	0.07995	-5.061	0.37495	T	.	.	0.071	0.03887	B	.	.	1.280722	0.16803	12.77	0.92774871779612	0.22289	0.56488	0.30130	D	AEFDBCI	0.156874	0.28229	N	-1.09709227206031	0.06696	0.3089999	-0.992626555470928	0.09950	0.4981074	0.992728753554622	0.32945	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.64	1.82	0.24209	0.646000	0.24486	3.310000	0.37456	-1.146000	0.01433	0.888000	0.31154	0.991000	0.31484	0.048000	0.15020	0.158:0.6834:0.1586:0.0	9.503	0.38194	941	0.13089	PSI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1107.98	36	chr3	127014301	.	G	A	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=838;ExcessHet=0.0000;FS=2.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-1.111e+00;SOR=0.970	GT:AD:DP:GQ:PL	0/1:54,44:98:99:1122,0,1378	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,15:73:99:0|1:128055734_T_C:175,0,1479:128055734	7	0	14	0
chr3	129003845	129003845	C	G	exonic	EFCC1	.	nonsynonymous SNV	EFCC1:NM_001377500:exon2:c.C748G:p.P250A	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.004	B	0.004	B	0.466	U	1.000	N	1.155	L	0.88	T	-1.016	T	0.064	T	0.129	-2.572	0.003	0.961	-0.092	-0.002	3.96	0.011	.	.	0.00199681	0.0069	0	0.0161	0	.	0	0	0.0095	0.0004269	66	154602	rs543402046	0.0004	0.0004	0.0002	0.0007	0.0077	0.0004	0.0004	0.0072	0.0070	0	0	0	0	0	0.0002	1.922e-06	0.0004	0.0077	0.0003	0.0003	0.0002	0.0004	0.0085	0.0002	0.0002	0.0064	0.0057	0	0	0	0	0	0	0	1.472e-05	0.0005	0.0085	.	.	.	0.581	0.08476	T	0.004	0.12183	B	0.004	0.10090	B	0.466481	0.12329	U	0.690969	1	0.18198	N	1.955	0.52871	M	.	.	.	.	.	.	0.162	0.17002	-1.0160	0.25013	T	0.064	0.26632	T	10	0.0050778985	0.00110	T	.	.	.	.	.	0.235	0.16457	0.0138822411134	0.00435	0.09305492855270586	0.09237	.	.	0.65498316288	0.60693	T	0.003054	0.02453	T	-0.553681	0.00277	T	-0.563536	0.16046	T	0.014651585841956	0.00303	T	0.448055	0.12582	T	0.034890655	0.04004	0.06153909	0.11899	0.034890655	0.04004	0.06153909	0.11898	-3.255	0.13164	T	.	.	0.068	0.02702	B	.	.	-0.232321	0.02931	0.428	0.41840351940602288	0.03045	0.17708	0.19953	N	AEFDBHCI	0.043191	0.06796	N	-1.10108055061937	0.06624	0.3054783	-1.16797911403493	0.06451	0.3105707	0.999999983981336	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.01	0.961	0.18758	0.246000	0.17935	0.192000	0.15754	0.328000	0.19510	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2544:0.606:0.0:0.1396	3.96	0.08901	599	0.68140	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	207.98	33	chr3	129003845	.	C	G	207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.046e+00;DP=635;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-1.140e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/1:6,9:15:99:222,0,193	20	0	1	0
chr3	129478141	129478141	C	T	exonic	IFT122	.	nonsynonymous SNV	IFT122:NM_052990:exon9:c.C940T:p.R314W	Cranioectodermal dysplasia 1, Autosomal recessive	YES	0	1502	19	1	0	21	0.00694215	.	.	272572	Connective_tissue_disorder|Cranioectodermal_dysplasia_1|not_provided|not_specified	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.004	N	1.000	D	2.925	M	-1.45	T	0.490	D	0.641	D	0.731	4.068	20.9	4.66	1.330	4.394	15.756	0.188	0.289353280779	0.0044	0.00139776	0.0048	0.0004	0.0005	0	0.0039	0.0069	0.0066	0.0045	0.0046118	713	154602	rs61744639	0.0048	0.0048	0.0045	0.0050	0.0047	0.0047	0.0046	0.0046	0.0045	0.0004	0.0009	0.0319	0	0.0039	0.0035	0.0047	0.0049	0.0039	0.0045	0.0045	0.0047	0.0042	0.0070	0.0042	0.0041	0.0065	0.0063	0.0004	0.0011	0.0007	0.0343	0	0.0030	0.0034	0.0070	0.0038	0.0027	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.984	0.76113	D	0.003868	0.34390	N	0.279446	0.999825	0.50225	D	2.63	0.76995	M	-1.45	0.80899	T	-5.98	0.91353	D	0.522	0.61341	0.490	0.90412	D	0.641	0.87450	D	10	0.009804696	0.00220	T	0.289353	0.90509	D	0.672	0.87868	.	.	0.952316176623	0.95181	0.5983418352486869	0.59765	0.780735406293	0.65281	0.546192884445	0.45320	T	0.715232	0.91908	D	-0.10792	0.35113	T	0.0815987	0.75685	D	0.0235890455863366	0.01094	T	0.989001	0.96320	D	0.49027917	0.66520	0.41508797	0.65633	0.43143672	0.62846	0.3999957	0.64548	-13.616	0.91742	D	0.6785857272398503	0.75465	0.189	0.47305	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.060131	0.84340	28.3	0.99913342734031829	0.98238	0.95229	0.63916	D	AEFDBI	0.799403	0.72567	D	0.67669343027995	0.78107	6.805063	0.607564439379775	0.75490	6.31943	0.999987175815797	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	4.66	0.57857	4.700000	0.61489	2.750000	0.34528	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1377:0.8623:0.0:0.0	15.756	0.77793	496	0.76301	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1150.98	34	chr3	129478141	.	C	T	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.740e-01;DP=810;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-4.590e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:50,51:101:99:1165,0,1179	20	0	1	0
chr3	130421334	130421337	GGAT	-	exonic	COL6A5	.	frameshift deletion	COL6A5:NM_001278298:exon27:c.5011_5014del:p.G1671Sfs*28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	50.94	34	chr3	130421333	.	AGGAT	A	50.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.593e+00;DP=884;ExcessHet=0.0000;FS=30.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=1.15;SOR=5.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,12:75:65:0|1:130421333_AGGAT_A:65,0,2277:130421333	20	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.746	D	2.525	M	-6.29	D	1.094	D	0.984	D	0.953	2.043	12.79	5.29	2.648	4.837	14.806	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	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	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	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	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:63,0,12:75:65:0|1:130421333_AGGAT_A:65,251,2563,0,2311,2277:130421333	15	0	5	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	739.91	44	chr3	130421334	.	G	C,*	739.91	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-3.709e+00;DP=1024;ExcessHet=1.7912;FS=120.026;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=1.94;ReadPosRankSum=0.653;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:63,0,12:75:65:0|1:130421333_AGGAT_A:65,251,2563,0,2311,2277:130421333	15	0	5	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:63,0,0,12:75:65:0|1:130421333_AGGAT_A:65,251,2563,251,2563,2563,0,2311,2311,2277:130421333	0	0	4	6
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	0.511	D	2.525	M	-6.27	D	1.074	D	0.984	D	0.872	2.027	12.73	5.29	2.648	4.837	14.806	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:63,0,0,12:75:65:0|1:130421333_AGGAT_A:65,251,2563,251,2563,2563,0,2311,2311,2277:130421333	0	0	4	6
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:63,0,0,12:75:65:0|1:130421333_AGGAT_A:65,251,2563,251,2563,2563,0,2311,2311,2277:130421333	0	0	4	6
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.916	P	0.583	P	.	.	0.994	N	2.525	M	-3.16	D	-0.023	T	0.759	D	0.237	2.052	12.82	1.49	0.394	1.106	3.899	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:63,0,12:75:65:0|1:130421333_AGGAT_A:65,251,2563,0,2311,2277:130421333	0	0	14	6
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:63,0,12:75:65:0|1:130421333_AGGAT_A:65,251,2563,0,2311,2277:130421333	0	0	14	6
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	2256.56	51	chr3	130421338	.	T	C,TCACC	2256.56	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-1.635e+00;DP=1199;ExcessHet=7.7275;FS=148.515;InbreedingCoeff=-0.4684;MLEAC=12,1;MLEAF=0.353,0.029;MQ=60.00;MQRankSum=0.00;QD=3.34;ReadPosRankSum=0.071;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:58,0,12:70:80:0|1:130421333_AGGAT_A:80,251,2428,0,2177,2143:130421333	6	0	10	4
chr3	131025266	131025266	C	G	exonic	ASTE1	.	nonsynonymous SNV	ASTE1:NM_001288950:exon3:c.G41C:p.S14T	.	.	.	.	.	.	.	.	.	.	.	3477247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.684	P	0.197	B	0.079	N	1.000	N	1.63	L	0.48	T	-1.047	T	0.099	T	0.179	0.899	8.654	1.66	0.275	0.564	4.778	0.048	0.0118738989364	0.0002	.	0.0002	0	8.658e-05	0	0	9.156e-05	0.0033	0.0006	0.0001423	22	154602	rs150834933	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0005	8.961e-05	4.473e-05	0	0	0	0.0009	0.0001	9.936e-05	0.0007	9.19e-05	9.186e-05	7.708e-05	0.0001	0.0008	5.523e-05	4.361e-05	0.0003	0.0002	0	0	0	0	0	0	0	0.0001	0	0.0008	0.205	0.38407	T	0.15	0.32461	T	0.684	0.41517	P	0.138	0.36707	B	0.078874	0.21018	N	0.565755	1	0.08975	N	1.935	0.51832	L	0.48	0.55945	T	-0.95	0.25770	N	0.24	0.27077	-1.0467	0.15332	T	0.099	0.37034	T	10	0.029616952	0.01088	T	0.011874	0.29919	T	0.048	0.13305	.	.	0.32471235697	0.32085	0.4795721576454043	0.47877	0.300778704188	0.32432	0.358532011509	0.19171	T	0.017111	0.17733	T	-0.409167	0.02013	T	-0.446021	0.28136	T	0.014252508340214	0.00282	T	0.678632	0.28733	T	0.059057523	0.11956	0.045283347	0.06059	0.059057523	0.11956	0.045283347	0.06059	-9.088	0.68261	D	.	.	0.09	0.15025	B	.;.;.;.	.;.;.;.	1.719862	0.21895	15.39	0.89076386620100656	0.18491	0.21840	0.21542	N	AEFGBCI	0.186919	0.31422	N	-0.492034288372447	0.22342	1.192272	-0.567629012849817	0.20339	1.09539	0.999913137193669	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.605231	0.38476	0	.	.	5.44	1.66	0.23081	0.607000	0.23906	1.440000	0.26519	0.599000	0.40250	0.046000	0.21249	0.005000	0.19230	0.772000	0.36596	0.1403:0.5671:0.0:0.2926	4.778	0.12559	627	0.65350	XPG N-terminal;XPG N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1172.98	33	chr3	131025266	.	C	G	1172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.699e+00;DP=867;ExcessHet=0.0000;FS=5.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=1.70;SOR=0.365	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1187,0,1407	20	0	1	0
chr3	146073298	146073298	T	C	exonic	PLOD2	.	nonsynonymous SNV	PLOD2:NM_000935:exon15:c.A1669G:p.I557V	Bruck syndrome 2, Autosomal recessive	.	886	631	5	0	0	5	0.00394633	.	.	289056	not_provided|Osteogenesis_imperfecta|Bruck_syndrome_2	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MONDO:MONDO:0012217,MedGen:C1836602,OMIM:609220,Orphanet:2771	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.57	T	0.025	B	0.021	B	0.013	N	0.811	D	0.04	N	-2.0	D	-0.881	T	0.256	T	0.129	0.694	7.708	0.202	-0.119	0.172	6.820	0.131	0.0248813343551	.	0.000199681	0.0009	0	0.0005	0	0	0.0004	0.0029	0.0028	0.0002329	36	154602	rs558336915	0.0002	0.0002	0.0001	0.0002	0.0022	0.0001	0.0001	0.0013	0.0011	0	5.319e-05	0	0	0	0.0022	6.231e-05	0.0004	0.0014	0.0001	0.0001	9.025e-05	0.0002	0.0023	8.192e-05	6.744e-05	0.0013	0.0010	0	0	0	0	0	0	0	0.0001	0	0.0023	0.579	0.07969	T	0.53	0.10103	T	0.0	0.19245	B	0.003	0.19346	B	0.013160	0.28935	N	0.411904	0.810866	0.34639	D	0.27	0.09956	N	-2.0	0.85393	D	-0.46	0.14978	N	0.269	0.30461	-0.8813	0.49657	T	0.256	0.62688	T	10	0.0077029765	0.00175	T	0.024881	0.47865	T	0.131	0.35738	.	.	0.383256108077	0.37933	0.4864992220880342	0.48569	0.0589295892916	0.06543	0.372450530529	0.21183	T	0.029318	0.21033	T	-0.421952	0.01662	T	-0.386145	0.35002	T	0.00719214286059132	0.00082	T	0.839116	0.51273	T	0.015042608	0.00119	0.019788636	0.00104	0.01868779	0.00391	0.020859445	0.00159	-3.577	0.17525	T	0.13744580842452422	0.15124	0.060	0.00949	B	.;.;.;.	.;.;.;.	2.044838	0.25992	16.96	0.81002638433277785	0.13472	0.83168	0.42308	D	AEFGBI	0.369065	0.45594	N	-0.918062255154669	0.10419	0.4978312	-0.749717490316742	0.15729	0.8286949	0.999901494445736	0.45458	0.732398	0.92422	0	0.573888	0.26702	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.68	0.202	0.14468	0.080000	0.14657	3.944000	0.40624	-0.242000	0.07441	0.523000	0.27135	1.000000	0.68203	0.991000	0.66497	0.3105:0.0:0.1815:0.508	6.820	0.23036	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	595.98	33	chr3	146073298	.	T	C	595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.272e+00;DP=740;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.46;ReadPosRankSum=1.91;SOR=0.780	GT:AD:DP:GQ:PL	0/1:34,29:63:99:610,0,839	20	0	1	0
chr3	148994180	148994180	G	A	exonic	GYG1	.	nonsynonymous SNV	GYG1:NM_001184720:exon2:c.G46A:p.A16T	Polyglucosan body myopathy 2, Autosomal recessive	.	0	1505	16	1	0	18	0.00594452	.	.	1630958	not_provided|Inborn_genetic_diseases|Polyglucosan_body_myopathy_type_2|Glycogen_storage_disease_XV	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014526,MedGen:C4015452,OMIM:616199,Orphanet:456369|MONDO:MONDO:0013291,MedGen:C3150754,OMIM:613507,Orphanet:263297	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.674	P	0.182	B	0.000	D	1.000	D	1.85	L	0.85	T	-0.852	T	0.141	T	0.476	3.914	19.90	5.29	2.466	6.292	18.942	0.125	0.0189551669034	.	0.000798722	0.0009	9.632e-05	0.0006	0	0	4.504e-05	0	0.0063	0.0007762	120	154602	rs200947378	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0004	0.0066	0.0064	8.962e-05	4.472e-05	0	0	0	0.0021	4.407e-05	0.0006	0.0071	0.0002	0.0002	5.15e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.417e-05	0	0	0	0	0	0	4.414e-05	0	0.0052	0.086	0.34621	T	0.066	0.48080	T	0.14	0.41239	B	0.039	0.35926	B	0.000007	0.62929	D	0.109289	1	0.81001	D	2.55	0.74443	M	0.85	0.47130	T	-1.7	0.40468	N	0.414	0.45803	-0.8518	0.51844	T	0.141	0.46054	T	10	0.01212883	0.00262	T	0.018955	0.41188	T	0.125	0.34456	0.607	0.73945	0.656629922374	0.65376	0.554284495195052	0.55355	0.105508220992	0.11931	0.639343380928	0.58471	T	0.251625	0.62190	T	-0.372465	0.03471	T	-0.304768	0.44219	T	0.0903793995208192	0.11263	T	0.768423	0.39947	T	0.45805606	0.64550	0.3739901	0.62575	0.539859	0.69390	0.3447308	0.60165	-5.834	0.46036	T	0.2348835315590937	0.31801	0.158	0.35013	B	.;.;.;.;.;.	.;.;.;.;.;.	3.692126	0.52612	23.3	0.99801614418373552	0.88639	0.95900	0.66639	D	AEFGBCI	0.844488	0.76145	D	0.283108905397718	0.55290	3.693315	0.404740604957056	0.61858	4.392114	0.999999999999998	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	6.403000	0.73186	6.629000	0.56146	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.0:1.0:0.0	18.942	0.92584	906	0.23090	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1705.11	34	chr3	148994180	.	G	A	1705.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.000e-03;DP=858;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=2.02;SOR=0.712	GT:AD:DP:GQ:PL	0/1:45,32:77:99:736,0,1113	19	0	2	0
chr3	151437050	151437050	T	C	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001178145:exon2:c.A1448G:p.Y483C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	D	1.000	D	4.06	H	-3.39	D	1.096	D	0.933	D	0.988	3.297	17.08	5.3	2.131	7.606	15.550	0.931	0.125302229035	.	0.000599042	0.0005	0	0	0	0	2.997e-05	0	0.0035	0.0004334	67	154602	rs561757162	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0	9.893e-06	0.0002	0.0038	0.0001	0.0001	8.992e-05	0.0002	0.0039	9.14e-05	7.697e-05	0.0026	0.0021	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0039	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000552	0.43413	D	0.000000	1	0.81001	D	4.535	0.99082	H	-3.39	0.94210	D	-8.6	0.97464	D	0.881	0.87917	1.096	0.99490	D	0.933	0.97795	D	10	0.3360586	0.50752	T	0.125302	0.80680	D	0.931	0.98378	0.904	0.97943	0.958833883477	0.95839	0.9297953489322615	0.92957	0.193693053295	0.21702	0.576709508896	0.49621	T	0.391779	0.75162	T	0.201023	0.73987	D	0.515141	0.94945	D	0.39209023091698	0.28643	T	0.908809	0.67676	D	0.8915941	0.90644	0.909611	0.95661	0.8915941	0.90645	0.909611	0.95661	-11.336	0.81469	D	.	.	0.912	0.83593	P	.	.	4.855959	0.79421	27.1	0.99659012786796486	0.77820	0.99560	0.97447	D	AEFDBI	.	.	.	0.799659007982722	0.86085	8.77338	0.633928590357299	0.77418	6.675689	0.999999999995704	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	7.626000	0.82344	7.855000	0.71153	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	15.550	0.75883	819	0.41190	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2382.98	119	chr3	151437050	.	T	C	2382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=2669;ExcessHet=0.0000;FS=6.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-1.105e+00;SOR=1.139	GT:AD:DP:GQ:PL	0/1:120,90:210:99:2397,0,3207	20	0	1	0
chr3	151446956	151446956	G	A	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.C3025T:p.R1009C	.	.	428	1086	8	0	0	8	0.00366972	.	.	2099438	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.642	P	0.038	N	0.701	D	0.895	L	-0.4	T	-0.438	T	0.246	T	0.496	2.852	15.50	5.37	2.513	4.968	13.412	0.225	.	7.7e-05	0.00459265	0.0034	9.654e-05	0.0003	0	0	0.0002	0.0022	0.0242	0.0029366	454	154602	rs140953154	0.0016	0.0016	0.0009	0.0022	0.0240	0.0015	0.0015	0.0232	0.0228	0	4.472e-05	0	2.519e-05	0	0.0016	8.363e-05	0.0015	0.0240	0.0008	0.0008	0.0004	0.0012	0.0228	0.0006	0.0006	0.0193	0.0180	9.625e-05	0	0	0	0	0	0	2.94e-05	0	0.0228	0.003	0.68238	D	0.031	0.53788	D	0.999	0.77913	D	0.642	0.52168	P	0.038104	0.24322	N	0.293803	0.701021	0.33421	D	2.3	0.65703	M	-0.4	0.69287	T	-2.81	0.59389	D	0.352	0.39356	-0.4376	0.70810	T	0.246	0.61459	T	10	0.005230248	0.00114	T	.	.	.	0.225	0.52323	.	.	0.808982704999	0.80719	0.4857493066353003	0.48494	0.13870021875	0.15641	0.190077885985	0.00226	T	0.010772	0.09688	T	-0.30806	0.07919	T	-0.197029	0.54929	T	0.107509240820821	0.13164	T	0.744226	0.36418	T	0.22701162	0.45394	0.14243293	0.33884	0.22701162	0.45394	0.14243293	0.33883	-8.708	0.65798	D	.	.	0.127	0.27039	B	.	.	4.911271	0.80804	27.4	0.99908697256026691	0.97875	0.96516	0.69530	D	AEFBI	0.657212	0.62892	D	0.335311030475802	0.57968	3.966632	0.345015051504374	0.58209	3.990014	0.999996484416945	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.37	5.37	0.76949	5.065000	0.64175	6.360000	0.55506	0.509000	0.23192	1.000000	0.71638	0.999000	0.35428	0.539000	0.29915	0.0759:0.0:0.9241:0.0	13.412	0.60394	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2583.98	41	chr3	151446956	.	G	A	2583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.38;DP=914;ExcessHet=0.0000;FS=2.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=1.90;SOR=0.542	GT:AD:DP:GQ:PL	0/1:117,95:212:99:2598,0,2907	20	0	1	0
chr3	161246391	161246391	A	C	exonic	NMD3	.	nonsynonymous SNV	NMD3:NM_001320227:exon12:c.A1073C:p.Q358P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.976	D	0.559	P	0.000	D	1.000	D	1.355	L	0.91	T	-1.023	T	0.119	T	0.875	3.398	17.47	5.01	2.187	8.322	14.607	0.266	0.0183799101804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.313	0.21745	T	0.976	0.58310	D	0.559	0.49531	P	0.000000	0.84330	D	0.053698	1	0.81001	D	1.455	0.36767	L	0.91	0.45248	T	-1.93	0.45769	N	0.89	0.88909	-1.0233	0.22638	T	0.119	0.41799	T	10	0.54836357	0.64113	D	0.01838	0.40424	T	0.266	0.57999	0.378	0.39319	0.535584383668	0.53208	0.785705820462672	0.78521	0.0974444906657	0.11007	0.558967232704	0.47123	T	0.064465	0.32442	T	0.199398	0.73835	D	0.0486445	0.73494	D	0.886904776096344	0.53736	D	0.90031	0.65351	D	0.38685918	0.59808	0.42186168	0.66105	0.38685918	0.59808	0.42186168	0.66105	-6.061	0.46786	T	.	.	0.294	0.52500	B	.;.;.	.;.;.	3.847412	0.55711	23.6	0.99086284374863576	0.52100	0.98686	0.85574	D	AEFGBI	0.955470	0.97334	D	0.214421364156788	0.51898	3.367608	0.34811362888256	0.58395	4.009648	0.999999815005728	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.01	5.01	0.66477	8.456000	0.90210	11.181000	0.88313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.607	0.68083	772	0.48957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	357.33	35	chr3	161246391	.	A	C	357.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.775;DP=666;ExcessHet=0.0000;FS=6.186;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-6.580e-01;SOR=1.718	GT:AD:DP:GQ:PL	0/1:11,14:25:99:371,0,235	19	0	1	1
chr3	180616670	180616670	C	T	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon18:c.G2432A:p.R811H,	Ciliary dyskinesia, primary, 14	.	91	1397	29	5	0	39	0.0137663	.	.	173761	not_provided|not_specified|Primary_ciliary_dyskinesia_14|Primary_ciliary_dyskinesia	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.992	D	0.562	P	.	.	1.000	D	2.645	M	-1.25	T	-0.379	T	0.187	T	0.431	4.032	20.7	5.14	2.671	3.227	10.436	0.388	.	0.0033	0.0125799	0.0102	0.0021	0.0078	0.0672	0.0013	0.0052	0.0039	0.0091	0.0068046	1052	154602	rs61733583	0.0050	0.0050	0.0049	0.0051	0.0440	0.0049	0.0048	0.0423	0.0416	0.0016	0.0057	0.0069	0.0440	0.0004	0.0180	0.0035	0.0075	0.0068	0.0051	0.0052	0.0049	0.0054	0.0512	0.0048	0.0047	0.0462	0.0442	0.0018	0	0.0077	0.0063	0.0512	0.0006	0.0034	0.0038	0.0047	0.0068	0.005	0.63226	D	0.064	0.44905	T	0.992	0.64738	D	0.562	0.49608	P	.	.	.	.	0.992986	0.81001	D	2.565	0.75005	M	-1.25	0.79072	T	-3.12	0.63782	D	0.429	0.46835	-0.3785	0.72698	T	0.187	0.53707	T	8	0.005194932	0.00113	T	.	.	.	0.388	0.70440	.	.	0.798611091458	0.79673	.	.	0.321630559139	0.34361	0.318488717079	0.13191	T	0.041716	0.25949	T	-0.295907	0.09051	T	-0.152264	0.59042	T	0.0232063556498541	0.01047	T	0.819518	0.47762	T	0.1524037	0.34598	0.14279647	0.33959	0.13467056	0.31280	0.124521025	0.30012	-5.357	0.40504	T	.	.	.	.	.	.	.	4.940641	0.81535	27.6	0.99947000166715183	0.99913	0.83296	0.42424	D	AEFGBCI	0.380059	0.46284	N	0.528086855526089	0.68757	5.261348	0.517918607435478	0.69197	5.326065	0.998145951419719	0.36487	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	3.277000	0.51358	4.829000	0.45183	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7886:0.1367:0.0747	10.436	0.43621	605	0.67457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2509.11	36	chr3	180616670	.	C	T	2509.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=896;ExcessHet=0.1072;FS=2.388;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.429;SOR=0.864	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1193,0,1303	19	0	2	0
chr3	183758886	183758886	C	T	exonic	YEATS2	.	nonsynonymous SNV	YEATS2:NM_001351369:exon13:c.C1577T:p.T526M	.	.	.	.	.	.	.	.	.	.	.	2210910	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.27	B	0.075	N	0.991	N	0.345	N	1.51	T	-1.044	T	0.033	T	0.107	2.644	14.80	3.29	1.182	0.550	3.882	0.109	0.0113442877462	8.5e-05	.	9.116e-05	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs373289746	8.593e-05	9.304e-05	8.958e-05	8.223e-05	0.0002	7.302e-05	6.885e-05	8.345e-05	7.76e-05	3.093e-05	0.0002	0	0	0	0	9.855e-05	6.695e-05	3.681e-05	3.943e-05	3.94e-05	2.57e-05	5.38e-05	6.55e-05	1.715e-05	1.129e-05	1.171e-05	6.25e-06	4.826e-05	0	6.55e-05	0	0	0	0	4.409e-05	0	0	0.011	0.55530	D	0.072	0.43344	T	0.99	0.63424	D	0.27	0.39872	B	0.074841	0.21260	N	0.453535	0.990567	0.24154	N	0.55	0.14455	N	1.51	0.30937	T	-1.57	0.37955	N	0.253	0.28616	-1.0435	0.16265	T	0.033	0.14160	T	10	0.112817526	0.21175	T	0.011344	0.28865	T	0.109	0.30843	.	.	0.043077524339	0.03247	0.11601260633545254	0.11529	0.192475934994	0.21576	0.354830294847	0.18631	T	0.022156	0.17132	T	-0.420323	0.01702	T	-0.61584	0.11515	T	0.0722622731742594	0.08965	T	0.805819	0.45382	T	0.024664551	0.01321	0.040314913	0.04329	0.024664551	0.01321	0.040314913	0.04329	-4.525	0.31214	T	.	.	0.082	0.08948	B	.	.	2.678451	0.34935	19.76	0.99289152717998108	0.58184	0.70967	0.34812	D	AEFBI	0.064829	0.12610	N	0.0369714838670608	0.43544	2.645267	0.102327946882138	0.44668	2.744054	0.0108805896736687	0.12096	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	3.29	0.36801	0.579000	0.23490	0.590000	0.19811	0.549000	0.26987	0.988000	0.36536	0.000000	0.08366	0.980000	0.58198	0.1313:0.4433:0.3317:0.0936	3.882	0.08587	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	647.98	34	chr3	183758886	.	C	T	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=764;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=1.53;SOR=0.988	GT:AD:DP:GQ:PL	0/1:43,31:74:99:662,0,996	20	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L	.	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	.	.	1.000	N	0	N	3.15	T	-0.948	T	0.016	T	0.091	1.132	9.616	.	0.119	0.856	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2812	1276.28	7	chr3	195725265	.	C	T	1276.28	.	AC=9;AF=0.281;AN=32;BaseQRankSum=2.03;DP=174;ExcessHet=0.2102;FS=9.661;InbreedingCoeff=0.1472;MLEAC=11;MLEAF=0.344;MQ=27.87;MQRankSum=0.329;QD=17.02;ReadPosRankSum=-4.050e-01;SOR=3.729	GT:AD:DP:GQ:PL	0/1:4,7:11:68:173,0,68	9	2	5	5
chr3	195778828	195778828	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12752A:p.T4251K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	D	0.766	P	0.420	N	1.000	N	1.15	L	1.33	T	-1.017	T	0.116	T	0.314	1.052	9.295	1.77	0.680	1.176	5.494	0.090	0.00475767157269	0.0005	.	0.0005	0	0.0002	0	0.0005	0.0007	0.0013	6.99e-05	0.0003881	60	154602	rs199497023	0.0006	0.0006	0.0006	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	0.0002	0	0	0.0005	0	0.0008	0.0006	3.488e-05	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0001	0	0.0005	0.0003	0	0.0003	0	0.0009	0.0005	0.0002	0.0	0.91255	D	0.253	0.23501	T	.	.	.	.	.	.	0.420162	0.04643	N	1.458510	1	0.08975	N	.	.	.	1.33	0.35775	T	-1.98	0.56301	N	0.439	0.47765	-1.0171	0.24657	T	0.116	0.40919	T	9	0.061296016	0.07663	T	0.004758	0.11879	T	0.090	0.26093	.	.	0.0297737177859	0.01360	0.0625038059696498	0.06190	.	.	0.291265189648	0.09107	T	.	.	.	-0.146862	0.28804	T	-0.448734	0.27837	T	0.0612032674927412	0.07357	T	0.491551	0.15120	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.37951	B	.;.	.;.	1.451275	0.18725	13.89	0.88919214187006324	0.18362	0.06709	0.12730	N	AEFBI	0.096552	0.19490	N	-0.52786862249801	0.21184	1.12231	-0.716129884946913	0.16559	0.87658	3.77048271317003E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.66	1.77	0.23848	1.584000	0.36199	0.783000	0.21499	-0.140000	0.12423	0.033000	0.20612	0.001000	0.17328	0.001000	0.02609	0.1615:0.0:0.8385:0.0	5.494	0.16083	597	0.68309	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	5070.98	263	chr3	195778828	.	G	T	5070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.160e+00;DP=5628;ExcessHet=0.0000;FS=3.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=-1.455e+00;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,150:323:99:0|1:195778793_G_A:5085,0,6277:195778793	20	0	1	0
chr3	195779399	195779399	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12181G:p.H4061D,	.	.	479	819	90	122	12	346	0.169371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	0.55	N	1.55	T	-1.006	T	0.036	T	0.079	-1.535	0.016	.	-0.833	-0.021	4.708	0.013	0.00218180284521	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0002	1.29e-05	2	154602	rs547257415	0.0006	0.0007	0.0004	0.0007	0.0030	0.0005	0.0005	0.0027	0.0026	4.2e-05	9.345e-05	0.0046	3.482e-05	0	0.0006	0.0004	0.0010	0.0030	3.88e-05	0.0004	2.522e-05	5.311e-05	8.501e-05	1.03e-05	4.86e-06	2.253e-05	1.224e-05	0	0	0	0	0	0	0	8.501e-05	0	0	1.0	0.00964	T	0.564	0.08991	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.08	0.10480	N	0.275	0.33578	-1.0061	0.28126	T	0.036	0.15422	T	7	0.036696404	0.01982	T	0.002182	0.04098	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021866061651874694	0.00202	.	.	0.568512201309	0.48467	T	.	.	.	-0.315178	0.07299	T	-0.690508	0.06360	T	0.0220143818898419	0.00910	T	0.528747	0.17479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08802	B	.;.	.;.	1.068807	0.14510	11.08	0.47329398998956096	0.03861	0.00301	0.01603	N	AEFBI	0.072871	0.14556	N	-1.32045032849468	0.03442	0.1537419	-1.44176183161681	0.02845	0.1316572	1.19772475481673E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.326000	0.08008	-1.290000	0.05802	0.086000	0.17587	0.000000	0.06391	0.007000	0.19602	0.022000	0.11911	1.0E-4:0.0:0.6463:0.3536	4.708	0.12239	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.225	36608.93	193	chr3	195779399	.	GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	G,CACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	36608.93	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.51;DP=4301;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=57.38;MQRankSum=-7.921e+00;QD=16.79;ReadPosRankSum=0.561;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:212,149,0:361:99:.:.:4192,0,8254,4768,8715,13964	13	2	4	1
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	159.86	193	chr3	195779400	.	A	T,*	159.86	.	AC=2,9;AF=0.071,0.321;AN=28;BaseQRankSum=-3.875e+00;DP=4316;ExcessHet=1.5306;FS=0.000;InbreedingCoeff=0.0793;MLEAC=3,12;MLEAF=0.107,0.429;MQ=58.96;MQRankSum=-1.218e+01;QD=0.07;ReadPosRankSum=3.26;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:212,0,149:361:99:.:.:4192,4768,13964,0,8715,8254	5	0	2	7
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2377.19	193	chr3	195779410	.	A	*,G	2377.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.77;DP=4183;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.71;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.26;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,155,0:364:99:.:.:5897,0,8131,6686,8882,17090	13	2	4	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2371.19	193	chr3	195779411	.	A	*,C	2371.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.15;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.43;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,155,0:364:99:.:.:5897,0,8131,6686,8882,17090	13	2	4	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,155,0:364:99:.:.:5897,0,8131,6686,8882,17090	13	2	4	1
chr3	195779418	195779418	-	GG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12161_12162insCC:p.S4055Lfs*205,	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.195e-05	0	0	0	0	0.0002	0	0	.	.	.	rs760455429	0.0011	0.0014	0.0008	0.0014	0.0041	0.0010	0.0010	0.0037	0.0035	0.0010	0.0002	0.0067	0.0001	6.627e-05	0.0009	0.0007	0.0018	0.0041	0.0004	0.0009	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0	0	0	0	0	0.0004	0.0027	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,155,0:364:99:.:.:5897,0,8131,6686,8882,17090	13	2	4	1
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,155,0:364:99:.:.:5897,0,8131,6686,8882,17090	13	2	4	1
chr3	195779421	195779422	AT	-	exonic;splicing	MUC4;MUC4	NM_001322468:exon17:r.spl	frameshift deletion	MUC4:NM_018406:exon2:c.12158_12159del:p.N4053Sfs*24,	.	.	537	766	92	121	6	340	0.178992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	.	0.0002	0.0007	0	0	0	0.0002	0	0	.	.	.	rs749974981	0.0014	0.0014	0.0011	0.0017	0.0050	0.0013	0.0013	0.0045	0.0043	0.0013	0.0003	0.0108	0.0002	9.483e-05	0.0012	0.0009	0.0024	0.0050	0.0008	0.0015	0.0008	0.0007	0.0011	0.0005	0.0004	0.0006	0.0004	0.0011	0	0	0	0	0	0	0.0009	0.0049	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,155,0:364:99:.:.:5897,0,8131,6686,8882,17090	13	2	4	1
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,155,0:364:99:.:.:5897,0,8131,6686,8882,17090	13	2	4	1
chr3	195779431	195779431	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12149A:p.P4050H	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	B	0.018	B	.	.	1.000	N	0.55	N	1.36	T	-1.020	T	0.047	T	0.061	0.033	4.183	.	0.488	-2.428	6.707	0.007	0.00258057017812	.	.	0.0021	0.0021	0	0	0	0.0008	0	0.0039	0.0001537	4	26028	rs1480550642	0.0014	0.0013	0.0011	0.0018	0.0074	0.0014	0.0013	0.0059	0.0057	0.0014	0.0005	0.0098	0	3.45e-05	0.0074	0.0008	0.0021	0.0064	0.0011	0.0013	0.0013	0.0009	0.0051	0.0009	0.0008	0.0029	0.0022	0.0012	0	0.0006	0.0039	0	0	0	0.0011	0	0.0051	0.012	0.54683	D	0.122	0.35970	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	1.31	0.35405	T	0.9	0.01787	N	0.056	0.02759	-1.0196	0.23845	T	0.047	0.20235	T	7	0.0064422786	0.00146	T	0.002581	0.05206	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.004172141456176176	0.00391	.	.	0.549387454987	0.45772	T	.	.	.	-0.287244	0.09915	T	-0.650382	0.08927	T	0.00760233881679783	0.00088	T	0.528347	0.17454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33732	B	.;.	.;.	2.089554	0.26580	17.17	0.83398739857595916	0.14704	0.00137	0.00841	N	AEFI	0.045525	0.07454	N	-1.25857930923118	0.04188	0.1885301	-1.38017546312345	0.03463	0.1616229	3.49615975115454E-5	0.03775	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.111000	0.10778	0.000000	0.13247	0.086000	0.17587	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,155,0:364:99:.:.:5897,0,8131,6686,8882,17090	13	2	4	1
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,155,0:364:99:.:.:5897,0,8131,6686,8882,17090	13	2	3	1
chr3	195779444	195779444	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12136G:p.T4046A	.	.	504	767	103	128	20	379	0.189646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	B	0.039	B	0.380	N	1.000	N	0.55	N	1.64	T	-1.044	T	0.031	T	0.04	0.334	5.814	0.613	0.522	0.338	3.482	0.013	.	.	0.112021	0.0077	0.0014	0.0112	0.0580	0.0013	0.0092	0	0.0064	0.0053557	828	154602	rs62282465	0.0047	0.0064	0.0042	0.0052	0.0253	0.0046	0.0045	0.0229	0.0220	0.0027	0.0042	0.0154	0.0253	0.0049	0.0090	0.0034	0.0065	0.0109	0.0014	0.0045	0.0013	0.0016	0.0029	0.0011	0.0010	0.0022	0.0020	0.0029	0	0.0012	0	0.0011	0.0009	0	0.0006	0.0020	0	0.626	0.05214	T	0.108	0.37730	T	.	.	.	.	.	.	0.380396	0.13397	N	0.326178	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.58	0.23156	N	0.034	0.01421	-1.0441	0.16089	T	0.031	0.13504	T	9	0.0028693974	0.00046	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021228600466568154	0.00196	.	.	0.553730368614	0.46383	T	.	.	.	-0.697436	0.00038	T	-0.745319	0.03671	T	0.00237689495200028	0.00025	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.;.	.;.	0.837442	0.12093	8.643	0.76492952725263341	0.11490	0.00494	0.02336	N	AEFI	0.061456	0.11751	N	-1.04182487498206	0.07748	0.3609991	-1.16911237340214	0.06431	0.3095628	1.23786745538616E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.613	0.613	0.16773	-0.356000	0.07711	-0.898000	0.07002	0.085000	0.17582	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	1.0E-4:0.0:0.427:0.5729	3.482	0.07171	601	0.67921	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,155,0:364:99:.:.:5897,0,8131,6686,8882,17090	13	2	3	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7448.07	193	chr3	195779447	.	C	G,*	7448.07	.	AC=3,8;AF=0.075,0.200;AN=40;BaseQRankSum=1.25;DP=4112;ExcessHet=0.0419;FS=0.515;InbreedingCoeff=0.3622;MLEAC=3,8;MLEAF=0.075,0.200;MQ=55.88;MQRankSum=1.93;QD=3.49;ReadPosRankSum=2.57;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:209,0,155:364:99:.:.:5897,6686,17090,0,8882,8131	12	0	2	1
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	75722.94	215	chr3	195779882	.	G	C,*	75722.94	.	AC=18,8;AF=0.692,0.308;AN=26;BaseQRankSum=0.967;DP=4540;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5960;MLEAC=26,12;MLEAF=1.00,0.462;MQ=59.69;MQRankSum=-2.320e-01;QD=23.33;ReadPosRankSum=-5.600e-02;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,208,149:360:99:.:.:12191,6013,5390,6593,0,8745	0	7	0	8
chr3	195780215	195780215	C	0	exonic	MUC4	.	.	.	.	.	2	157	43	0	24	67	0.120448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	424.47	497	chr3	195780215	.	C	G,*	424.47	.	AC=1,5;AF=0.028,0.139;AN=36;BaseQRankSum=-2.227e+00;DP=10160;ExcessHet=0.1217;FS=18.125;InbreedingCoeff=0.1067;MLEAC=1,6;MLEAF=0.028,0.167;MQ=54.84;MQRankSum=-1.380e+00;QD=0.31;ReadPosRankSum=-1.645e+00;SOR=1.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:265,0,63:328:99:0|1:195780182_A_C:1848,2645,13765,0,11120,10930:195780182	13	0	0	3
chr3	195781220	195781220	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	54979.33	431	chr3	195781220	.	T	C,*	54979.33	.	AC=9,1;AF=0.250,0.028;AN=36;BaseQRankSum=-1.386e+00;DP=9310;ExcessHet=0.2410;FS=0.000;InbreedingCoeff=0.1444;MLEAC=10,1;MLEAF=0.278,0.028;MQ=59.26;MQRankSum=4.32;QD=12.97;ReadPosRankSum=0.556;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,242,0:451:99:.:.:5951,0,5282,6576,6004,12580	10	2	5	3
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:212,213,0:425:99:.:.:5464,0,4871,6094,5509,11604	0	3	3	1
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	3617.11	473	chr3	195782507	.	G	C,*	3617.11	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.608;DP=8469;ExcessHet=0.1022;FS=1.731;InbreedingCoeff=0.2832;MLEAC=1,8;MLEAF=0.025,0.200;MQ=55.87;MQRankSum=-1.046e+01;QD=1.40;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:238,0,164:402:99:.:.:5849,6577,16174,0,9597,9081	13	0	1	1
chr3	195782517	195782517	G	0	exonic	MUC4	.	.	.	.	.	464	935	5	4	114	127	0.00690388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	782.1	473	chr3	195782517	.	G	A,*	782.1	.	AC=1,7;AF=0.029,0.206;AN=34;BaseQRankSum=2.28;DP=8484;ExcessHet=0.0354;FS=1.107;InbreedingCoeff=0.2407;MLEAC=1,8;MLEAF=0.029,0.235;MQ=52.14;MQRankSum=-7.400e+00;QD=0.36;ReadPosRankSum=3.01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:238,0,164:402:99:.:.:5849,6577,16174,0,9597,9081	11	0	1	4
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	89047.24	581	chr3	195782949	.	A	G,*	89047.24	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=0.195;DP=11733;ExcessHet=5.3821;FS=0.000;InbreedingCoeff=0.0111;MLEAC=20,2;MLEAF=1.00,0.111;MQ=56.70;MQRankSum=-8.626e+00;QD=21.07;ReadPosRankSum=0.379;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:210,224,0:434:99:.:.:5075,0,4981,5999,6083,14368	0	2	6	12
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	13824.02	469	chr3	195783068	.	G	T,*	13824.02	.	AC=6,3;AF=0.214,0.107;AN=28;BaseQRankSum=1.62;DP=9197;ExcessHet=5.7770;FS=6.457;InbreedingCoeff=-0.2980;MLEAC=8,4;MLEAF=0.286,0.143;MQ=56.56;MQRankSum=-1.160e+01;QD=4.34;ReadPosRankSum=-2.209e+00;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,57,0:261:99:0|1:195783068_G_T:1578,0,8323,2192,8494,10686:195783068	5	0	6	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	14051.12	468	chr3	195783070	.	A	C,*	14051.12	.	AC=6,4;AF=0.200,0.133;AN=30;BaseQRankSum=1.87;DP=9244;ExcessHet=6.9875;FS=3.367;InbreedingCoeff=-0.3690;MLEAC=8,5;MLEAF=0.267,0.167;MQ=56.95;MQRankSum=-9.607e+00;QD=3.58;ReadPosRankSum=-2.103e+00;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,65,0:257:99:0|1:195783068_G_T:1854,0,4872,2424,5065,7489:195783068	5	0	6	6
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	10418.23	479	chr3	195783086	.	A	*,G	10418.23	.	AC=5,7;AF=0.179,0.250;AN=28;BaseQRankSum=0.783;DP=8967;ExcessHet=1.0583;FS=3.282;InbreedingCoeff=-0.1323;MLEAC=7,9;MLEAF=0.250,0.321;MQ=57.34;MQRankSum=-1.078e+01;QD=2.74;ReadPosRankSum=-4.326e+00;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:207,0,41:248:99:0|1:195783068_G_T:1073,1696,10388,0,8692,8568:195783068	4	0	4	7
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4587.88	506	chr3	195783103	.	A	G,*	4587.88	.	AC=6,4;AF=0.300,0.200;AN=20;BaseQRankSum=4.06;DP=8924;ExcessHet=0.4906;FS=4.240;InbreedingCoeff=-0.0371;MLEAC=10,6;MLEAF=0.500,0.300;MQ=58.00;MQRankSum=-1.052e+01;QD=1.60;ReadPosRankSum=-4.436e+00;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,26,0:224:99:0|1:195783068_G_T:455,0,8238,1051,8314,9365:195783068	2	1	3	11
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2897.01	506	chr3	195783105	.	C	T,*	2897.01	.	AC=6,4;AF=0.188,0.125;AN=32;BaseQRankSum=1.38;DP=7813;ExcessHet=0.3364;FS=4.620;InbreedingCoeff=0.1275;MLEAC=7,5;MLEAF=0.219,0.156;MQ=57.99;MQRankSum=-1.166e+01;QD=1.02;ReadPosRankSum=-5.051e+00;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,19,0:219:99:0|1:195783068_G_T:156,0,8343,758,8398,9156:195783068	8	1	3	5
chr3	195783106	195783106	A	0	exonic	MUC4	.	.	.	.	.	522	916	35	26	23	110	0.0453361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2727.94	506	chr3	195783106	.	A	*,G	2727.94	.	AC=4,6;AF=0.125,0.188;AN=32;BaseQRankSum=5.87;DP=7812;ExcessHet=0.3364;FS=3.688;InbreedingCoeff=0.1275;MLEAC=5,7;MLEAF=0.156,0.219;MQ=57.97;MQRankSum=-1.105e+01;QD=0.96;ReadPosRankSum=-4.100e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:199,0,18:217:99:0|1:195783068_G_T:117,716,9072,0,8356,8304:195783068	8	0	3	5
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	13623.42	256	chr3	195783346	.	A	*,G	13623.42	.	AC=4,7;AF=0.286,0.500;AN=14;BaseQRankSum=1.28;DP=3337;ExcessHet=1.1394;FS=1.217;InbreedingCoeff=0.2429;MLEAC=9,15;MLEAF=0.643,1.00;MQ=53.18;MQRankSum=1.23;QD=15.80;ReadPosRankSum=1.52;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,56:56:99:1|1:195783346_A_G:2399,2399,2399,168,168,0:195783346	0	1	1	14
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	9429.56	210	chr3	195783357	.	C	G,*	9429.56	.	AC=5,4;AF=0.357,0.286;AN=14;BaseQRankSum=-3.000e-03;DP=3094;ExcessHet=0.0000;FS=5.746;InbreedingCoeff=0.3636;MLEAC=10,8;MLEAF=0.714,0.571;MQ=49.14;MQRankSum=1.46;QD=23.75;ReadPosRankSum=-1.441e+00;SOR=1.550	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,51,0:51:99:1|1:195783346_A_G:2202,153,0,2202,153,2202:195783346	2	2	1	14
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6902.99	178	chr3	195783367	.	A	G,*	6902.99	.	AC=5,2;AF=0.357,0.143;AN=14;BaseQRankSum=1.84;DP=2929;ExcessHet=0.0000;FS=11.888;InbreedingCoeff=0.3056;MLEAC=10,4;MLEAF=0.714,0.286;MQ=46.46;MQRankSum=1.24;QD=30.54;ReadPosRankSum=1.51;SOR=1.789	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34,0:34:99:1|1:195783346_A_G:1525,102,0,1525,102,1525:195783346	3	2	1	14
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,295,0,0:295:99:.:.:12648,12661,12674,872,886,0,12661,12674,886,12674,12661,12674,886,12674,12674	1	1	9	3
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27	.	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2900.14	742	chr3	195785314	.	A	AC	2900.14	.	AC=2;AF=0.059;AN=34;BaseQRankSum=2.27;DP=14707;ExcessHet=0.1072;FS=5.464;InbreedingCoeff=-0.1062;MLEAC=2;MLEAF=0.059;MQ=57.83;MQRankSum=-1.068e+00;QD=2.36;ReadPosRankSum=-2.790e-01;SOR=1.313	GT:AD:DP:GQ:PL	0/1:571,71:642:99:892,0,20244	15	0	2	4
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,571,62:633:99:.:.:26182,3062,679,20694,0,25952	0	19	0	0
chr3	195785364	195785364	T	0	exonic	MUC4	.	.	.	.	.	441	974	97	0	10	107	0.0474328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	27392.49	834	chr3	195785364	.	T	C,*	27392.49	.	AC=5,1;AF=0.147,0.029;AN=34;BaseQRankSum=-9.670e-01;DP=14266;ExcessHet=1.7912;FS=2.937;InbreedingCoeff=-0.2375;MLEAC=6,1;MLEAF=0.176,0.029;MQ=57.01;MQRankSum=0.620;QD=7.11;ReadPosRankSum=-2.844e+00;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:444,193,0:637:99:0|1:195785364_T_C:6456,0,17906,7792,18487,26279:195785364	11	0	5	4
chr3	195785371	195785371	G	0	exonic	MUC4	.	.	.	.	.	5	198	22	0	1	23	0.0526316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25396.43	834	chr3	195785371	.	G	A,*	25396.43	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=1.36;DP=14123;ExcessHet=0.5418;FS=3.054;InbreedingCoeff=-0.0202;MLEAC=7,1;MLEAF=0.194,0.028;MQ=56.87;MQRankSum=0.044;QD=6.67;ReadPosRankSum=-2.969e+00;SOR=1.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:454,180,0:634:99:0|1:195785364_T_C:6035,0,18514,7402,19056,26457:195785364	11	1	5	3
chr3	195785372	195785372	G	0	exonic	MUC4	.	.	.	.	.	529	885	99	0	9	108	0.0529695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	24926.62	834	chr3	195785372	.	G	C,*	24926.62	.	AC=5,1;AF=0.139,0.028;AN=36;BaseQRankSum=0.029;DP=14105;ExcessHet=1.7912;FS=3.806;InbreedingCoeff=-0.2213;MLEAC=6,1;MLEAF=0.167,0.028;MQ=56.89;MQRankSum=0.150;QD=6.36;ReadPosRankSum=-3.052e+00;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:456,175,0:631:99:0|1:195785364_T_C:5892,0,18618,7265,19145,26410:195785364	12	0	5	3
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:163,447,0:610:99:.:.:12205,0,5471,12695,6809,19504	0	15	5	0
chr3	195785391	195785391	C	0	exonic	MUC4	.	.	.	.	.	459	975	85	2	1	90	0.0436488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	14855.56	802	chr3	195785391	.	C	*,G	14855.56	.	AC=1,5;AF=0.029,0.147;AN=34;BaseQRankSum=5.87;DP=13422;ExcessHet=1.8958;FS=4.251;InbreedingCoeff=-0.2308;MLEAC=1,6;MLEAF=0.029,0.176;MQ=56.41;MQRankSum=-2.403e+00;QD=4.45;ReadPosRankSum=-6.536e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:444,0,116:560:99:.:.:3502,4830,16692,0,11862,11513	11	0	1	4
chr3	195786836	195786836	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A4744G:p.T1582A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	B	0.414	B	.	.	1.000	N	-0.55	N	1.5	T	-0.952	T	0.035	T	0.072	0.024	4.137	.	0.077	-0.860	4.518	0.022	.	.	.	0.0015	0.0186	0	0	0	0.0002	0	0	.	.	.	rs767721533	2.643e-05	0.0001	2.753e-05	2.53e-05	0.0005	1.935e-05	1.717e-05	0.0003	0.0003	0.0005	0	0.0002	0	0	0	8.51e-06	5.389e-05	6.45e-05	0.0004	0.0012	0.0005	0.0003	0.0014	0.0003	0.0003	0.0010	0.0009	0.0014	0.0013	0.0002	0.0006	0.0003	0	0	3.369e-05	0	0.0006	0.427	0.10245	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.20864	N	.	.	.	1.5	0.31205	T	-0.1	0.08495	N	0.025	0.00527	-0.9522	0.40590	T	0.035	0.14943	T	7	0.0063316226	0.00143	T	.	.	.	0.022	0.04323	.	.	0.0138822411134	0.00435	2.5633403550001925E-4	0.00023	.	.	0.463001132011	0.33722	T	.	.	.	-0.37565	0.03317	T	-0.777372	0.02533	T	0.034463220526396	0.02716	T	0.532847	0.17735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03773	B	.;.	.;.	0.267129	0.06449	2.924	0.57728693465169711	0.05833	0.00351	0.01809	N	AEFBI	0.053201	0.09565	N	-1.17603786426683	0.05363	0.2443288	-1.31433640132482	0.04244	0.1997721	1.16378297766622E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-6.511000	0.00078	-6.858000	0.01288	-1.217000	0.01344	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:7.0E-4:0.0:0.9993	4.518	0.11349	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05	2734.42	490	chr3	195786836	.	T	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=5.49;DP=9341;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.26;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-8.680e-01;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,80,0:275:99:0|1:195786836_T_C:2748,0,7936,3335,8177,11511:195786836	18	0	1	1
chr3	195786836	195786836	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2734.42	490	chr3	195786836	.	T	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=5.49;DP=9341;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.26;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-8.680e-01;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,80,0:275:99:0|1:195786836_T_C:2748,0,7936,3335,8177,11511:195786836	18	0	1	1
chr3	195786837	195786837	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4743G:p.H1581Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	P	0.394	B	.	.	1.000	N	0.55	N	1.77	T	-0.987	T	0.042	T	0.043	-0.257	2.764	.	0.088	1.076	5.868	0.051	0.0018022909023	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433967173	2.9e-06	6.849e-06	0	5.882e-06	5.132e-05	6.8e-07	4.6e-07	1.698e-05	1.007e-05	0	0	0	0	0	0	0	0	5.132e-05	2.013e-05	0.0001	0	4.112e-05	0.0002	5.35e-06	2.49e-06	.	.	2.52e-05	0	0	0	0	0	0	1.487e-05	0	0.0002	0.033	0.44358	D	0.047	0.49120	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.77	0.26445	T	-0.3	0.11913	N	0.06	0.05037	-0.9870	0.33347	T	0.042	0.18202	T	7	0.0676651	0.09461	T	0.001802	0.03089	T	0.051	0.14325	0.185	0.09388	0.0138822411134	0.00435	9.078141338902045E-4	0.00083	.	.	0.477809727192	0.35755	T	.	.	.	-0.377128	0.03248	T	-0.779495	0.02468	T	0.0961095467209816	0.11924	T	0.552145	0.19060	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41480	B	.;.	.;.	0.881260	0.12544	9.074	0.65028823967065863	0.07658	0.01111	0.04064	N	AEFBI	0.067318	0.13228	N	-0.966786020209137	0.09319	0.4405873	-1.15569419400416	0.06666	0.3216276	1.17720544703296E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.554000	0.02276	-4.346000	0.02205	0.167000	0.17740	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	8.0E-4:0.0:0.9992:0.0	5.868	0.18034	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	2734.42	490	chr3	195786837	.	G	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=2.93;DP=9337;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.22;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-1.082e+00;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,80,0:275:99:0|1:195786836_T_C:2748,0,7936,3335,8177,11511:195786836	18	0	1	1
chr3	195786837	195786837	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2734.42	490	chr3	195786837	.	G	C,*	2734.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=2.93;DP=9337;ExcessHet=0.1128;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.22;MQRankSum=-1.092e+01;QD=2.19;ReadPosRankSum=-1.082e+00;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,80,0:275:99:0|1:195786836_T_C:2748,0,7936,3335,8177,11511:195786836	18	0	1	1
chr3	195786846	195786846	A	0	exonic	MUC4	.	.	.	.	.	557	954	6	0	5	11	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2385.42	490	chr3	195786846	.	A	G,*	2385.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=4.04;DP=9324;ExcessHet=0.1128;FS=3.754;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.23;MQRankSum=-1.114e+01;QD=1.93;ReadPosRankSum=-2.126e+00;SOR=1.059	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,71,0:264:99:0|1:195786836_T_C:2399,0,7890,2980,8104,11084:195786836	18	0	1	1
chr3	195786859	195786860	GG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.4720_4721del:p.P1574Ffs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.793e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.333e-05	4.622e-05	0	2.728e-05	0.0002	2.22e-06	8.3e-07	.	.	0	0	0	0	0	0	0	1.483e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1708.38	490	chr3	195786858	.	AGG	A,*	1708.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=3.20;DP=9310;ExcessHet=0.1128;FS=3.943;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.10;MQRankSum=-1.212e+01;QD=1.40;ReadPosRankSum=-3.568e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,55,0:250:99:0|1:195786836_T_C:1722,0,8022,2309,8188,10497:195786836	18	0	1	1
chr3	195786858	195786860	AGG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1708.38	490	chr3	195786858	.	AGG	A,*	1708.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=3.20;DP=9310;ExcessHet=0.1128;FS=3.943;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.10;MQRankSum=-1.212e+01;QD=1.40;ReadPosRankSum=-3.568e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,55,0:250:99:0|1:195786836_T_C:1722,0,8022,2309,8188,10497:195786836	18	0	1	1
chr3	195786862	195786862	-	A	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.4717_4718insT:p.S1573Mfs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.795e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.291e-06	4.177e-05	0	1.492e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1579.66	490	chr3	195786862	.	C	CA	1579.66	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.18;DP=8807;ExcessHet=0.0000;FS=30.376;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=57.08;MQRankSum=-1.177e+01;QD=6.37;ReadPosRankSum=-3.998e+00;SOR=2.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,52:248:99:0|1:195786836_T_C:1593,0,8073:195786836	18	0	1	2
chr3	195786863	195786863	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.4716_4717insG:p.S1573Efs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.794e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.947e-06	4.061e-05	0	1.42e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1579.66	490	chr3	195786863	.	T	TC	1579.66	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.91;DP=8808;ExcessHet=0.0000;FS=30.376;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=57.03;MQRankSum=-1.177e+01;QD=6.37;ReadPosRankSum=-3.744e+00;SOR=2.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,52:248:99:0|1:195786836_T_C:1593,0,8073:195786836	18	0	1	2
chr3	195786871	195786871	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4709A:p.P1570H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.992	D	0.893	P	.	.	1.000	N	-0.55	N	1.5	T	-1.038	T	0.049	T	0.137	0.628	7.377	.	0.088	1.629	5.868	0.086	0.00507056142917	.	.	8.894e-05	0.0005	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773124584	3.632e-06	1.922e-05	4.299e-06	2.947e-06	8.63e-05	1.06e-06	7.7e-07	2.287e-05	1.234e-05	3.304e-05	0	0	8.63e-05	0	0	0	1.76e-05	0	8.782e-05	0.0004	6.615e-05	0.0001	0.0004	5.19e-05	4.065e-05	0.0001	8.932e-05	0.0002	0	6.699e-05	0	0	0	0	1.488e-05	0	0.0004	0.012	0.54683	D	0.036	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.5	0.31205	T	-0.2	0.10136	N	0.135	0.13198	-1.0378	0.17985	T	0.049	0.20868	T	7	0.05948651	0.07159	T	0.005071	0.12846	T	0.086	0.25016	.	.	0.0401082797425	0.02173	4.3537125455748944E-4	0.00039	.	.	0.468236267567	0.34438	T	.	.	.	-0.244634	0.14764	T	-0.589176	0.13737	T	0.130622121584514	0.15440	T	0.586341	0.21412	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.;.	.;.	1.490374	0.19171	14.13	0.90064103766213732	0.19349	0.07333	0.13354	N	AEFBI	0.120060	0.23405	N	-0.764604173434575	0.14239	0.7077127	-0.996809924664428	0.09856	0.4928598	2.08741482897962E-4	0.05948	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	2.665000	0.46456	-0.422000	0.09278	0.177000	0.17786	0.072000	0.22128	0.000000	0.08366	0.003000	0.05239	8.0E-4:0.0:0.9992:0.0	5.868	0.18034	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	1002.7	490	chr3	195786871	.	G	T	1002.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=8787;ExcessHet=0.0000;FS=46.552;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=56.78;MQRankSum=-1.224e+01;QD=4.46;ReadPosRankSum=-4.490e+00;SOR=3.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,38:225:99:0|1:195786836_T_C:1016,0,5342:195786836	18	0	1	2
chr4	1383837	1383837	A	G	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon13:c.A1933G:p.S645G	UV-sensitive syndrome 3, Autosomal recessive	.	0	1503	18	1	0	20	0.00660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.004	B	0.710	N	1.000	N	1.21	L	1.56	T	-1.015	T	0.058	T	0.046	-1.222	0.062	-4.12	-0.950	-0.063	1.532	0.010	0.0037136444809	0.0002	0.000599042	0.0005	0	0.0002	0.0003	0	0.0003	0	0.0026	0.0004528	70	154602	rs201318732	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	2.987e-05	0.0002	0.0015	7.557e-05	1.894e-05	0.0026	0.0001	0.0006	0.0025	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0	0	0.0001	0.0014	0	0	0	0.0004	0.0009	0.0015	0.573	0.10020	T	0.286	0.23845	T	0.001	0.07471	B	0.004	0.10090	B	0.710106	0.10021	N	0.896444	1	0.08975	N	0.805	0.20218	L	1.56	0.42502	T	-0.5	0.24460	N	0.099	0.08088	-1.0154	0.25207	T	0.058	0.24204	T	10	0.005978614	0.00134	T	0.003714	0.08589	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.1538222070765325	0.15304	0.0152523105094	0.01452	0.272158384323	0.06424	T	0.036624	0.24175	T	-0.67779	0.00049	T	-0.751301	0.03435	T	0.00574786982365525	0.00063	T	0.374863	0.08927	T	0.022671392	0.00946	0.023782352	0.00391	0.022422122	0.00904	0.02780293	0.00961	-2.727	0.07532	T	0.09284901968223057	0.06045	0.055	0.00412	B	.;.;.;.;.	.;.;.;.;.	-1.197671	0.00533	0.012	0.39955257370670688	0.02790	0.02627	0.07216	N	AEFBI	0.037822	0.05260	N	-1.5382268697818	0.01604	0.07012771	-1.60868813775984	0.01603	0.07272763	5.41867196343739E-4	0.07273	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.75	-4.12	0.03650	-0.275000	0.08557	-1.970000	0.04414	-1.514000	0.01012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3667:0.2436:0.2718:0.1179	1.532	0.02384	836	0.38045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1494.98	39	chr4	1383837	.	A	G	1494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.353e+00;DP=901;ExcessHet=0.0000;FS=4.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.727e+00;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,42:109:99:0|1:1383827_A_G:1509,0,2606:1383827	20	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	957.88	16	chr4	3074927	.	G	GCAA,*	957.88	.	AC=3,5;AF=0.071,0.119;AN=42;BaseQRankSum=-8.410e-01;DP=1050;ExcessHet=0.5418;FS=3.188;InbreedingCoeff=0.0867;MLEAC=3,4;MLEAF=0.071,0.095;MQ=59.47;MQRankSum=2.60;QD=4.01;ReadPosRankSum=3.51;SOR=0.920	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,10,0:22:99:.:.:287,0,1086,388,859,1304	14	0	2	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:112,43:155:99:266,0,2326	0	0	21	0
chr4	8228514	8228514	G	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G2592T:p.E864D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.007	B	0.026	B	0.921	N	0.809	N	0.935	L	-0.05	T	-1.002	T	0.164	T	0.143	0.433	6.352	3.21	0.911	-0.018	13.650	0.080	0.00395228342147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	2.052e-06	1.364e-06	1.378e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.14159	T	0.416	0.14284	T	0.007	0.14184	B	0.026	0.20792	B	0.920735	0.08489	N	0.963342	1	0.08975	N	1.375	0.34280	L	-0.05	0.63403	T	-0.89	0.24026	N	0.171	0.18239	-1.0024	0.29226	T	0.164	0.50078	T	10	0.1215803	0.23050	T	0.003952	0.09337	T	0.080	0.23350	0.487	0.57098	0.606697734199	0.60354	0.15495340116045203	0.15416	0.0259321086645	0.02646	0.345671653748	0.17283	T	0.002077	0.01480	T	-0.167851	0.25559	T	-0.478883	0.24565	T	0.0760370269417763	0.09472	T	0.651635	0.26249	T	0.055627692	0.10837	0.048025053	0.07045	0.055627692	0.10837	0.048025053	0.07044	-4.539	0.31395	T	.	.	0.105	0.19398	B	.	.	0.675499	0.10439	7.160	0.9735323569782447	0.33534	0.06720	0.12741	N	ALL	0.165100	0.29156	N	-0.820226127721544	0.12795	0.6259518	-0.785001865011242	0.14862	0.7787987	0.999999999999962	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.056198	0.00348	3	0.756233	0.99697	0	.	.	4.06	3.21	0.35933	0.089000	0.14843	0.490000	0.18893	0.676000	0.76740	0.015000	0.19116	0.003000	0.18671	0.657000	0.32885	0.0:0.3157:0.6843:0.0	13.650	0.61777	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	39	chr4	8228514	.	G	T	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.137;DP=1054;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=-7.460e-01;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,27:56:99:0|1:8228508_T_C:819,0,822:8228508	20	0	1	0
chr4	8868292	8868292	C	A	exonic	HMX1	.	nonsynonymous SNV	HMX1:NM_018942:exon2:c.G448T:p.A150S,	Oculoauricular syndrome, Autosomal recessive	.	2	1516	4	0	0	4	0.00131752	.	.	1154854	not_provided|HMX1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.6	T	0.037	B	0.031	B	.	.	1.000	N	0.895	L	-2.64	D	-0.677	T	0.465	T	0.101	0.791	8.169	2.0	0.568	0.573	2.957	0.108	.	.	0.0119808	0.0309	0	0.0294	0	.	0	0.0227	0.042	0.0016947	262	154602	rs376695621	0.0017	0.0018	0.0010	0.0024	0.0308	0.0017	0.0016	0.0297	0.0292	0.0001	8.781e-05	0	7.179e-05	0	0.0002	4.539e-05	0.0023	0.0308	0.0014	0.0014	0.0008	0.0020	0.0396	0.0013	0.0012	0.0350	0.0332	0.0001	0	0.0007	0	0.0002	0	0	2.942e-05	0.0014	0.0396	0.598	0.05668	T	0.725	0.05256	T	0.037	0.20876	B	0.031	0.21939	B	.	.	.	.	0.999814	0.20249	N	0.895	0.22405	L	-2.64	0.90147	D	-0.33	0.12472	N	0.057	0.02861	-0.6767	0.61525	T	0.465	0.79312	T	9	0.0023578107	0.00035	T	.	.	.	0.108	0.30607	0.281	0.23642	.	.	0.19568230972637424	0.19485	0.848130207505	0.68413	0.86288946867	0.91536	D	0.035581	0.23773	T	-0.456617	0.01032	T	-0.410421	0.32175	T	0.00379685780776241	0.00040	T	0.451655	0.12799	T	0.04390943	0.06928	0.074783474	0.16396	0.048895363	0.08596	0.074783474	0.16396	-4.893	0.35656	T	.	.	0.079	0.07365	B	.	.	1.486981	0.19133	14.11	0.93525937421470606	0.23346	0.50288	0.28628	D	AEFDBHCI	0.103372	0.20713	N	-0.80880801377346	0.13085	0.6421646	-0.77101187273303	0.15207	0.7986188	0.837101607605085	0.24799	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.81	2.0	0.25495	0.045000	0.13898	0.118000	0.14877	-0.303000	0.06174	0.000000	0.06391	0.696000	0.26205	0.220000	0.22462	0.1848:0.5312:0.1798:0.1042	2.957	0.05520	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1038.98	41	chr4	8868292	.	C	A	1038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=879;ExcessHet=0.0000;FS=3.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-7.700e-02;SOR=1.072	GT:AD:DP:GQ:PL	0/1:59,41:100:99:1053,0,1478	20	0	1	0
chr4	9243884	9243884	G	C	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.G6C:p.E2D,	.	.	490	1019	13	0	0	13	0.00633837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	.	.	.	.	.	.	1.000	N	0.695	N	2.69	T	-0.945	T	0.021	T	0.181	0.315	5.707	0.37	0.450	0.501	.	0.018	0.785207235613	.	.	0.0034	0	0.0099	0	0	0.0046	0	0	0.0004657	72	154602	rs746198002	0.0020	0.0075	0.0020	0.0019	0.0022	0.0019	0.0019	0.0021	0.0021	0.0004	0.0018	0.0038	0	0.0027	0.0019	0.0022	0.0015	0.0005	0.0003	0.0015	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	9.674e-05	0	0.0003	0	0	0.0002	0	0.0004	0	0	0.123	0.27544	T	0.315	0.22627	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.69	0.12268	T	0.15	0.05310	N	0.15	0.15328	-0.9454	0.41748	T	0.021	0.08963	T	6	0.03258398	0.01413	T	0.785207	0.98310	D	0.018	0.03083	0.246	0.18139	0.0401082797425	0.02173	0.020831925818852563	0.02036	.	.	0.541121840477	0.44603	T	0.00744	0.06846	T	-0.62805	0.00098	T	-0.66782	0.07749	T	0.00538380027744191	0.00058	T	0.390461	0.09684	T	0.08194392	0.18854	0.09321036	0.22005	0.08194392	0.18853	0.09321036	0.22004	-3.994	0.23714	T	.	.	0.121	0.25133	B	.;.	.;.	0.735441	0.11045	7.701	0.96409607182053592	0.29720	0.01105	0.04049	N	AEFI	0.030943	0.03210	N	-0.870095447995878	0.11559	0.558448	-1.05359465695228	0.08632	0.4253761	1.14241020842926E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.094000	0.14946	.	.	0.304000	0.19002	0.121000	0.23193	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	446.98	397	chr4	9243884	.	G	C	446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.657e+00;DP=9347;ExcessHet=0.0000;FS=3.882;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.78;MQRankSum=-7.420e-01;QD=0.73;ReadPosRankSum=-4.250e-01;SOR=0.438	GT:AD:DP:GQ:PL	0/1:522,92:614:99:461,0,12440	20	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGG:p.F488Gfs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.416e-05	0.0011	7.738e-05	7.09e-05	0.0003	6.203e-05	5.787e-05	0.0001	0.0001	0.0003	2.912e-05	0.0002	3.182e-05	4.243e-05	0	7.362e-05	0.0001	1.291e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,5,0,0,0:51:47:0|1:15004125_C_CGGGGGGGGGGGGG:47,0,1866,186,1881,2067,186,1881,2067,2067,186,1881,2067,2067,2067:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGGGGG:p.F488Gfs*69	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54e-05	0.0002	1.458e-05	1.623e-05	0.0001	9.9e-06	8.4e-06	2.879e-05	1.498e-05	0.0001	0	4.257e-05	3.181e-05	2.121e-05	0	1.319e-05	1.792e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,5,0,0,0:51:47:0|1:15004125_C_CGGGGGGGGGGGGG:47,0,1866,186,1881,2067,186,1881,2067,2067,186,1881,2067,2067,2067:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22	.	.	373	1134	5	0	10	15	0.00219974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0031	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	8.738e-05	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	2.584e-05	6.656e-06	0.0001	1.299e-05	0	2.421e-05	0	0	.	.	2.421e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,5,0,0,0:51:47:0|1:15004125_C_CGGGGGGGGGGGGG:47,0,1866,186,1881,2067,186,1881,2067,2067,186,1881,2067,2067,2067:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGGGGGGGG:p.F488Gfs*70	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-06	5.542e-05	4.373e-06	2.951e-06	3.623e-05	1.07e-06	7.8e-07	3.1e-07	1.2e-07	3.623e-05	0	4.257e-05	0	0	0	1.885e-06	1.792e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,5,0,0,0:51:47:0|1:15004125_C_CGGGGGGGGGGGGG:47,0,1866,186,1881,2067,186,1881,2067,2067,186,1881,2067,2067,2067:15004125	16	0	1	0
chr4	40120090	40120090	A	G	exonic	N4BP2	.	nonsynonymous SNV	N4BP2:NM_018177:exon9:c.A1979G:p.K660R	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.005	B	0.004	B	0.458	N	1.000	N	1.06	L	2.17	T	-0.965	T	0.022	T	0.152	1.145	9.665	-2.96	-0.343	0.357	1.033	0.026	0.00421583919928	0.0002	0.000199681	0.0009	0	0	0.0005	0.0042	0.0008	0.0011	0.0012	0.0007244	112	154602	rs201855506	0.0005	0.0005	0.0005	0.0005	0.0011	0.0004	0.0004	0.0009	0.0008	3.006e-05	0	0	0.0002	0.0044	0.0002	0.0003	0.0006	0.0011	0.0005	0.0005	0.0004	0.0007	0.0019	0.0004	0.0004	0.0010	0.0008	2.404e-05	0	6.534e-05	0	0.0019	0.0037	0	0.0004	0	0.0004	0.55	0.06585	T	0.566	0.08930	T	0.003	0.11197	B	0.002	0.06944	B	0.458411	0.12421	N	0.743446	1	0.08975	N	1.575	0.39704	L	2.17	0.19020	T	0.12	0.05604	N	0.059	0.03069	-0.9651	0.38191	T	0.022	0.09559	T	10	0.0036215186	0.00066	T	0.004216	0.10153	T	0.026	0.05648	.	.	0.255777322467	0.25185	0.18782101830575348	0.18700	0.0646895154567	0.07223	0.229418337345	0.01925	T	4.25E-4	0.00140	T	-0.560522	0.00252	T	-0.623479	0.10915	T	0.0131910982242928	0.00234	T	0.568143	0.20156	T	0.030810237	0.02810	0.030518966	0.01517	0.030810237	0.02810	0.030518966	0.01517	-4.414	0.29746	T	.	.	0.078	0.06849	B	.	.	1.844236	0.23430	16.01	0.96051178970474482	0.28564	0.34480	0.25077	N	AEFDGBI	0.070152	0.13915	N	-0.882513882120914	0.11258	0.5423517	-0.824471733964072	0.13903	0.72371	0.998419164721216	0.36924	0.653281	0.48532	0	0.633656	0.55848	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	5.93	-2.96	0.05212	0.184000	0.16748	3.140000	0.36479	0.756000	0.94297	0.981000	0.35396	1.000000	0.68203	0.939000	0.47918	0.3555:0.1198:0.303:0.2217	1.033	0.01446	428	0.80967	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1749.98	59	chr4	40120090	.	A	G	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.354;DP=1088;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-3.540e-01;SOR=0.687	GT:AD:DP:GQ:PL	0/1:87,75:162:99:1764,0,2084	20	0	1	0
chr4	55095651	55095651	T	C	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon20:c.A2743G:p.I915V,	Hemangioma, capillary infantile, somatic	.	.	.	.	.	.	.	.	.	.	683638	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.998	D	0.000	D	1.000	D	0.195	N	-1.37	T	0.105	D	0.490	T	0.677	4.740	26.5	5.98	2.285	6.243	16.461	0.498	0.0519535719946	7.7e-05	.	0.0002	0	0	0	0	0.0003	0	0	0.0001488	23	154602	rs140228618	0.0001	0.0001	0.0001	0.0001	0.0001	9.541e-05	9.021e-05	0.0001	0.0001	0	0	0.0007	0	5.617e-05	0	0.0001	3.314e-05	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.245e-05	0.0002	0.0002	0	0	0	0.0006	0	9.432e-05	0	0.0003	0	0	0.032	0.44694	D	0.137	0.33894	T	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.29	0.10111	N	-1.37	0.80214	T	-0.83	0.22727	N	0.409	0.44952	0.105	0.84272	D	0.490	0.80639	T	10	0.33789206	0.50903	T	0.051954	0.64874	D	0.498	0.78226	.	.	0.429154209284	0.42533	0.5306005881388483	0.52984	0.618409321082	0.56233	0.804474115372	0.82646	D	0.280509	0.65322	T	-0.050998	0.44296	T	-0.00790233	0.69822	D	0.181882159360227	0.19354	T	0.911709	0.68653	D	0.42006734	0.62096	0.26408666	0.52223	0.42006734	0.62096	0.26408666	0.52222	-5.368	0.40611	T	.	.	0.153	0.33755	B	.;.	.;.	4.516397	0.70779	25.6	0.99895218845461531	0.96819	0.98491	0.83340	D	AEFBI	0.837921	0.75550	D	0.568054884393165	0.71188	5.613048	0.636175990789648	0.77583	6.707767	0.999999999961409	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.98	5.98	0.97147	6.223000	0.72203	7.923000	0.74625	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	16.461	0.83899	698	0.58074	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1065.98	33	chr4	55095651	.	T	C	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.183e+00;DP=788;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-1.644e+00;SOR=0.497	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1080,0,1190	20	0	1	0
chr4	56020725	56020725	T	A	exonic	CEP135	.	nonsynonymous SNV	CEP135:NM_025009:exon24:c.T3265A:p.L1089I,	.	.	2	1518	2	0	0	2	0.000658328	.	.	207132	CEP135-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.944	P	0.719	P	0.000	D	0.998	N	2.255	M	2.47	T	-1.106	T	0.032	T	0.307	3.480	17.81	0.646	0.499	1.030	3.596	0.094	0.00904420094222	0.0017	0.00259585	0.0007	0.0070	0.0004	0	0	1.499e-05	0.0011	0	0.0006404	99	154602	rs76659072	0.0002	0.0002	0.0003	0.0002	0.0085	0.0002	0.0002	0.0076	0.0073	0.0085	0.0003	0	0	0	0.0003	3.598e-06	0.0005	2.32e-05	0.0023	0.0023	0.0024	0.0022	0.0082	0.0021	0.0020	0.0075	0.0072	0.0082	0	0.0004	0	0	0	0	2.94e-05	0.0014	0	0.018	0.50676	D	0.054	0.47097	T	0.944	0.53183	P	0.719	0.54822	P	0.000258	0.46924	D	0.144743	0.999457	0.21167	N	2.65	0.77586	M	2.47	0.14783	T	-1.29	0.32387	N	0.401	0.44187	-1.1062	0.03417	T	0.032	0.13548	T	10	0.0075767636	0.00172	T	0.009044	0.23797	T	0.094	0.27141	.	.	0.321108458156	0.31720	0.2772393747035957	0.27636	0.18944392901	0.21264	0.49319922924	0.37883	T	0.112009	0.42795	T	-0.50034	0.00569	T	-0.485789	0.23833	T	0.0458121193649831	0.04749	T	0.873313	0.58144	D	0.083641894	0.19324	0.07414592	0.16188	0.083641894	0.19324	0.07414592	0.16188	-5.729	0.43950	T	.	.	0.108	0.20313	B	.	.	3.192534	0.43383	21.7	0.99252316636306448	0.56924	0.65738	0.32838	D	AEFBI	0.062901	0.12121	N	0.0630162764093904	0.44744	2.742858	-0.0618350651204212	0.36982	2.159333	0.00159027978579459	0.08668	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.96	0.646	0.16961	1.076000	0.30340	1.498000	0.26936	-0.115000	0.14600	0.999000	0.42656	0.971000	0.29754	0.836000	0.39433	0.291:0.3614:0.0:0.3476	3.596	0.07554	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1311.98	34	chr4	56020725	.	T	A	1311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=-3.180e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/1:87,61:148:99:1326,0,1976	20	0	1	0
chr4	56307569	56307569	G	A	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon5:c.G155A:p.R52Q,	.	.	.	.	.	.	.	.	.	.	.	3242427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.766	P	0.113	B	.	.	0.998	N	1.445	L	2.64	T	-1.013	T	0.023	T	0.135	1.515	11.02	1.06	0.129	0.504	9.569	0.026	0.012797496782	0.0004	0.000599042	0.0003	0.0001	0.0006	0.0003	0	0.0003	0	0.0002	0.0002717	42	154602	rs201101039	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0004	1.872e-05	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0003	0.0001	0.0010	0.0001	0.0001	0.0004	0.0002	4.815e-05	0	0.0001	0	0.0010	0	0.0034	0.0002	0	0.0008	0.341	0.12673	T	0.357	0.17115	T	0.766	0.43754	P	0.113	0.31689	B	.	.	.	.	0.998119	0.22343	N	1.955	0.52871	M	2.62	0.12988	T	-0.14	0.15986	N	0.159	0.20262	-1.0132	0.25912	T	0.023	0.09923	T	9	0.012897223	0.00275	T	0.012797	0.31686	T	0.026	0.05648	.	.	0.0762999501168	0.06990	0.2201372019180407	0.21929	0.916642512623	0.71263	0.221367523074	0.01390	T	0.00639	0.13603	T	-0.528674	0.00391	T	-0.667179	0.07791	T	0.0344381725003906	0.02713	T	0.635836	0.24975	T	0.021241428	0.00716	0.044221558	0.05680	0.021241428	0.00716	0.044221558	0.05679	-2.01	0.03219	T	.	.	0.077	0.12797	B	.;.;.;.;.	.;.;.;.;.	2.272685	0.29051	18.00	0.92345345630362541	0.21745	0.27892	0.23403	N	AEFDBHCIJ	0.157506	0.28302	N	-0.684630364140613	0.16459	0.8387822	-0.699588235326289	0.16970	0.9002615	0.998383670434922	0.36869	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.59522	0.37078	0	.	.	5.84	1.06	0.19341	0.536000	0.22838	0.997000	0.23233	-0.667000	0.04321	0.058000	0.21700	1.000000	0.68203	0.276000	0.23917	0.2875:0.2598:0.4526:0.0	9.569	0.38583	286	0.88678	Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592;Domain of unknown function DUF4592	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1313.98	33	chr4	56307569	.	G	A	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-5.440e-01;SOR=0.694	GT:AD:DP:GQ:PL	0/1:53,55:108:99:1328,0,1312	20	0	1	0
chr4	68567787	68567787	C	G	exonic	UGT2B17	.	nonsynonymous SNV	UGT2B17:NM_001077:exon2:c.G698C:p.W233S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.159	U	1.000	N	2.455	M	0.09	T	-0.725	T	0.287	T	0.428	1.533	11.08	2.66	1.516	2.050	11.121	0.290	0.00372444849759	0.0018	.	0.0008	0.0004	0.0002	0	0.0006	0.0012	0	0	0.0005627	87	154602	rs148958723	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	3.386e-05	0.0004	9.432e-05	0	0.0005	0	0.0007	0.0007	0	0.0007	0.0007	0.0007	0.0008	0.0012	0.0006	0.0005	0.0009	0.0009	0.0001	0	0.0010	0	0	0.0005	0	0.0012	0	0	0.0	0.91255	D	0.022	0.57587	D	.	.	.	.	.	.	0.158603	0.17735	U	0.478331	0.999997	0.08975	N	3.02	0.86243	M	0.09	0.61443	T	-13.27	0.99915	D	0.396	0.43706	-0.7246	0.59234	T	0.287	0.65909	T	8	0.19285858	0.35032	T	0.003724	0.08620	T	0.290	0.60924	.	.	0.442054744378	0.43824	0.5425100954765099	0.54176	0.568803844307	0.53079	0.433032393456	0.29623	T	0.185821	0.53891	T	-0.00863776	0.50457	T	-0.250184	0.49799	T	0.426961064338684	0.29948	T	0.775622	0.40735	T	0.5198194	0.68249	0.62725055	0.78267	0.5198194	0.68250	0.62725055	0.78268	-10.897	0.79090	D	.	.	0.808	0.77645	P	.	.	4.069473	0.60449	24.2	0.88787150381572633	0.18254	0.51801	0.28981	D	AEFGI	0.166400	0.29298	N	-0.119215824126853	0.36556	2.114645	-0.276571421792451	0.28871	1.613162	1.13411964937834E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.66	2.66	0.30672	3.263000	0.51248	.	.	0.481000	0.22134	0.979000	0.35152	1.000000	0.68203	0.020000	0.11549	0.0:1.0:0.0:0.0	11.121	0.47509	564	0.70960	.	.	.	.	.	.	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	0.03333	3616.55	832	chr4	68567787	.	C	G	3616.55	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.719;DP=832;ExcessHet=0.0000;FS=0.847;InbreedingCoeff=-0.0345;MLEAC=1;MLEAF=0.033;MQ=59.97;MQRankSum=0.928;QD=11.23;ReadPosRankSum=-1.115e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/1:174,148:322:99:3628,0,4355	14	0	1	6
chr4	78847258	78847258	G	A	exonic	BMP2K	.	nonsynonymous SNV	BMP2K:NM_017593:exon6:c.G739A:p.A247T	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	D	1.000	D	1.205	L	2.01	T	-1.035	T	0.111	T	0.817	4.822	27.3	5.19	2.588	7.731	18.728	0.415	0.0308610240097	.	0.000199681	4.196e-05	9.879e-05	0	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs560393905	2.917e-05	2.941e-05	2.075e-05	3.767e-05	0.0004	2.184e-05	1.937e-05	0.0002	0.0001	3.089e-05	0	0	0	0	0.0004	1.364e-05	3.384e-05	0.0003	3.303e-05	3.284e-05	1.292e-05	5.406e-05	0.0002	1.266e-05	8.02e-06	1.981e-05	1.13e-05	0	0	0	0	0	0	0	5.918e-05	0	0.0002	0.002	0.78490	D	0.003	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000003	0.62929	D	0.058964	1	0.81001	D	0.56	0.15190	N	2.01	0.21291	T	-3.72	0.71882	D	0.935	0.95841	-1.0352	0.18794	T	0.111	0.39794	T	10	0.71877545	0.73522	D	0.030861	0.53076	D	0.415	0.72555	0.624	0.75916	0.327952845175	0.32413	0.8136626316342199	0.81322	0.416527251118	0.42292	0.852106571198	0.89932	D	0.063152	0.32101	T	-0.0771398	0.40177	T	-0.0841541	0.64598	T	0.60280139358676	0.36511	D	0.948605	0.80233	D	0.7957907	0.83638	0.6959665	0.82098	0.7957907	0.83640	0.6959665	0.82099	-13.745	0.93840	D	.	.	0.465	0.62951	A	.;.;.	.;.;.	5.309198	0.89129	29.9	0.99902071293364358	0.97350	0.98849	0.87668	D	AEFBI	0.862669	0.78101	D	0.71849890757168	0.80845	7.385478	0.729986470586417	0.84655	8.352973	0.999999765864302	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.836000	0.85003	11.746000	0.95299	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.728	0.91686	533	0.73433	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	247.98	29	chr4	78847258	.	G	A	247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.700e-02;DP=553;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=1.08;SOR=0.551	GT:AD:DP:GQ:PL	0/1:11,12:23:99:262,0,237	20	0	1	0
chr4	79406943	79406943	G	T	exonic	GK2	.	nonsynonymous SNV	GK2:NM_033214:exon1:c.C1258A:p.R420S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.088	N	1.000	N	-0.935	N	-2.51	D	-0.794	T	0.263	T	0.102	-1.160	0.096	1.61	0.358	1.743	9.549	0.156	0.0289387437388	.	.	.	.	.	.	.	.	.	.	.	.	.	rs267600273	3.42e-06	3.42e-06	2.722e-06	4.125e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.818	0.02974	T	0.63	0.07196	T	0.0	0.02946	B	0.003	0.08700	B	0.088495	0.20477	N	0.550372	0.999882	0.19853	N	-0.785	0.01646	N	-2.51	0.89293	D	1.34	0.00900	N	0.066	0.03841	-0.7943	0.55479	T	0.263	0.63448	T	10	0.039512217	0.02447	T	0.028939	0.51534	D	0.156	0.40720	0.264	0.20946	0.416202232284	0.41236	0.3066418690731017	0.30577	0.0821195563771	0.09255	0.213878333569	0.00987	T	0.007909	0.07283	T	-0.16848	0.25466	T	-0.41614	0.31519	T	0.0192136468561549	0.00628	T	0.508649	0.16166	T	0.053194243	0.10031	0.06244699	0.12219	0.053194243	0.10031	0.06244699	0.12218	-0.366	0.00508	T	.	.	0.137	0.29860	B	.	.	0.297864	0.06735	3.249	0.28410582345910529	0.01457	0.10805	0.16204	N	AEFDBI	0.055828	0.10272	N	-1.09074914009527	0.06812	0.3146908	-0.896897424501546	0.12167	0.6242973	0.0319207634900736	0.14028	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	1.61	0.22752	1.629000	0.36683	0.063000	0.14158	-0.265000	0.06832	0.750000	0.29133	0.002000	0.18203	0.395000	0.26670	0.0:0.0:0.3595:0.6405	9.549	0.38464	427	0.81056	Carbohydrate kinase, FGGY, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	634.98	36	chr4	79406943	.	G	T	634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.171;DP=761;ExcessHet=0.0000;FS=5.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-1.369e+00;SOR=1.004	GT:AD:DP:GQ:PL	0/1:39,25:64:99:649,0,1145	20	0	1	0
chr4	83310866	83310866	G	C	exonic	HPSE	.	nonsynonymous SNV	HPSE:NM_001199830:exon4:c.C524G:p.A175G	.	.	436	1074	11	1	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.983	D	0.771	P	0.001	D	1.000	D	2.35	M	1.53	T	-1.130	T	0.017	T	0.256	3.633	18.48	5.2	2.706	6.749	18.537	0.140	.	0.0008	0.0109824	0.0108	0.0018	0.0909	0.0006	0	0.0004	0.0088	0.0118	0.0101034	1562	154602	rs12512551	0.0037	0.0037	0.0037	0.0037	0.0825	0.0036	0.0036	0.0803	0.0794	0.0007	0.0825	0	0.0006	0.0002	0.0023	0.0003	0.0033	0.0128	0.0060	0.0060	0.0056	0.0063	0.0451	0.0056	0.0055	0.0423	0.0412	0.0019	0.0263	0.0451	0	0.0002	9.432e-05	0	0.0004	0.0109	0.0133	0.304	0.23007	T	0.337	0.18449	T	0.983	0.60381	D	0.771	0.56890	P	0.000898	0.41231	D	0.243454	0.999955	0.52396	D	2.615	0.76484	M	1.53	0.30401	T	-1.85	0.45042	N	0.055	0.17002	-1.1300	0.01782	T	0.017	0.07045	T	10	0.0030927062	0.00051	T	.	.	.	0.140	0.37593	.	.	.	.	0.5450426713405191	0.54430	0.117441942622	0.13232	0.311771512032	0.12174	T	0.290437	0.66321	T	-0.503193	0.00548	T	-0.428771	0.30074	T	0.0320085691398385	0.02308	T	0.787921	0.43272	T	0.47603473	0.65659	0.3964563	0.64287	0.47603473	0.65659	0.3964563	0.64287	-4.514	0.31072	T	.	.	0.140	0.39134	B	.;.;.;.	.;.;.;.	4.472295	0.69705	25.4	0.99716232022710227	0.81703	0.98323	0.81627	D	AEFBI	0.806700	0.73094	D	0.600026262302336	0.73178	5.923686	0.609252135412674	0.75613	6.341247	0.999999999871765	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.2	5.2	0.71720	7.075000	0.76485	9.443000	0.80834	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:1.0:0.0	18.537	0.90965	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	0.02381	984.98	36	chr4	83310866	.	G	C	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.037e+00;DP=802;ExcessHet=0.0000;FS=1.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=0.809;SOR=0.479	GT:AD:DP:GQ:PL	0/1:52,44:96:99:999,0,1355	20	0	1	0
chr4	87114755	87114755	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon9:c.C815T:p.S272F	.	.	9	1479	34	0	0	34	0.0113636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.759	P	0.181	B	0.882	N	1.000	N	1.01	L	-0.16	T	-1.017	T	0.105	T	0.299	0.223	5.201	3.16	0.374	1.540	6.780	0.172	.	0.0035	0.00299521	0.0042	0.0010	0.0047	0	0.0153	0.0048	0.0045	0.0012	0.0037774	584	154602	rs61734705	0.0033	0.0033	0.0033	0.0032	0.0198	0.0032	0.0032	0.0168	0.0157	0.0012	0.0043	0.0080	0	0.0138	0.0198	0.0028	0.0041	0.0013	0.0037	0.0037	0.0031	0.0043	0.0039	0.0034	0.0033	0.0031	0.0029	0.0008	0	0.0039	0.0118	0	0.0166	0.0170	0.0034	0.0047	0.0010	0.062	0.36912	T	0.72	0.05345	T	0.759	0.43487	P	0.181	0.35894	B	0.882298	0.08747	N	0.949291	1	0.08975	N	2.17	0.60663	M	-0.16	0.65378	T	-2.06	0.47175	N	0.348	0.42149	-1.0172	0.24625	T	0.105	0.38513	T	10	0.006207943	0.00140	T	.	.	.	0.172	0.43662	.	.	0.562879358496	0.55950	0.19588485410126055	0.19505	0.0532509764265	0.05870	0.425953328609	0.28655	T	0.232717	0.59934	T	-0.418167	0.01757	T	-0.367754	0.37152	T	0.0066038834103697	0.00074	T	0.810019	0.46084	T	0.07412139	0.16611	0.08228966	0.18771	0.07412139	0.16611	0.08228966	0.18770	-7.231	0.55703	T	.	.	0.110	0.31558	B	.;.;.	.;.;.	1.278152	0.16773	12.76	0.6391828850066581	0.07352	0.22897	0.21899	N	AEFDBHCIJ	0.096527	0.19484	N	-0.670679487230267	0.16860	0.8627298	-0.73702708724918	0.16042	0.8467487	0.999938047868116	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.82	3.16	0.35406	1.390000	0.34072	1.398000	0.26172	-0.218000	0.08083	0.001000	0.13787	0.001000	0.17328	0.003000	0.05239	0.2521:0.6073:0.0:0.1406	6.780	0.22823	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	0.04762	2551.11	33	chr4	87114755	.	C	T	2551.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=884;ExcessHet=0.1072;FS=1.072;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.859;SOR=0.668	GT:AD:DP:GQ:PL	0/1:71,39:110:99:961,0,1940	19	0	2	0
chr4	87318349	87318353	TCTCT	-	exonic	HSD17B13	.	frameshift deletion	HSD17B13:NM_178135:exon2:c.294_298del:p.E98Dfs*14,	.	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00139776	0.0005	9.612e-05	0.0011	0	0	0.0007	0.0011	0.0002	0.0003074	8	26028	rs540096704	0.0004	0.0004	0.0005	0.0004	0.0068	0.0004	0.0004	0.0051	0.0045	0.0005	0.0014	0.0005	0	3.744e-05	0.0068	0.0004	0.0008	0.0002	0.0007	0.0007	0.0006	0.0008	0.0030	0.0006	0.0005	0.0023	0.0021	0.0002	0	0.0030	0	0	0.0002	0.0102	0.0006	0.0028	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2147.94	33	chr4	87318348	.	ATCTCT	A	2147.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=822;ExcessHet=0.0000;FS=2.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=0.297;SOR=0.857	GT:AD:DP:GQ:PL	0/1:77,57:134:99:2162,0,3041	20	0	1	0
chr4	87435021	87435021	G	C	exonic	NUDT9	.	nonsynonymous SNV	NUDT9:NM_001248011:exon2:c.G148C:p.V50L	.	.	439	1078	5	0	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.001	B	0.737	N	1.000	N	-0.69	N	2.56	T	-1.013	T	0.102	T	0.274	0.237	5.282	2.43	0.341	0.941	7.858	0.039	0.0228534642955	0.0002	0.00119808	0.0004	9.919e-05	0.0010	0	0	0.0005	0.0011	0.0002	0.0005175	80	154602	rs141228147	0.0003	0.0003	0.0003	0.0003	0.0073	0.0003	0.0003	0.0055	0.0049	0.0006	0.0012	0.0004	0	0	0.0073	0.0003	0.0007	0.0001	0.0006	0.0006	0.0005	0.0006	0.0024	0.0005	0.0004	0.0017	0.0015	0.0002	0	0.0024	0	0	0	0.0102	0.0005	0.0028	0	0.653	0.04802	T	0.389	0.16717	T	0.0	0.02946	B	0.0	0.01387	B	0.736857	0.09809	N	0.885835	1	0.08975	N	0.46	0.12951	N	-0.84	0.74265	T	-0.14	0.09135	N	0.089	0.06720	-1.0128	0.26038	T	0.102	0.37593	T	10	0.006555438	0.00149	T	0.022853	0.45774	T	0.039	0.10176	.	.	0.654317289335	0.65143	0.45189807958242256	0.45107	0.345455903003	0.36457	0.232745677233	0.02177	T	0.042964	0.31460	T	-0.389007	0.02730	T	-0.387906	0.34798	T	0.00068576936610043	0.00006	T	0.608739	0.23025	T	0.022162935	0.00861	0.02771605	0.00946	0.022162935	0.00861	0.02771605	0.00946	-3.298	0.13712	T	.	.	0.071	0.13690	B	.;.	.;.	0.712251	0.10810	7.493	0.7571153815000442	0.11181	0.05151	0.10964	N	AEFBI	0.082736	0.16756	N	-1.17057822566775	0.05449	0.2484709	-1.04006251116599	0.08915	0.4407539	0.176535377636151	0.17812	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.05	2.43	0.28797	1.478000	0.35050	3.955000	0.40703	-0.194000	0.09177	0.003000	0.16062	0.316000	0.24298	0.610000	0.31640	0.7478:0.0:0.2522:0.0	7.858	0.28657	548	0.72362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	40	chr4	87435021	.	G	C	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.171;DP=850;ExcessHet=0.0000;FS=2.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-2.670e-01;SOR=0.454	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1034,0,1357	20	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/1:0,34,0:34:99:1026,102,0,1026,102,1026	8	3	7	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,33:33:99:.:.:1395,1395,1395,100,100,0	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,33:33:99:.:.:1395,1395,1395,100,100,0	0	2	2	0
chr4	87616233	87616241	GACAGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3571_3579del:p.S1229_S1231del,	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	.	633	805	61	19	4	103	0.0579286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0138	.	0.0013	0.0102	0	0	0	0.0002	0	0	0.0001552	24	154602	rs779559161	0.0006	0.0005	0.0006	0.0005	0.0126	0.0005	0.0005	0.0116	0.0111	0.0126	0.0007	0.0008	0	0.0002	0.0037	0.0002	0.0016	4.211e-05	0.0035	0.0035	0.0036	0.0034	0.0109	0.0032	0.0031	0.0099	0.0096	0.0109	0	0.0011	0.0004	0	0.0004	0.0058	0.0003	0.0037	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5326.02	10	chr4	87616232	.	TGACAGCAGC	CGACAGCAGC,T	5326.02	.	AC=7,1;AF=0.219,0.031;AN=32;BaseQRankSum=1.16;DP=1033;ExcessHet=0.0004;FS=3.054;InbreedingCoeff=0.5011;MLEAC=7,1;MLEAF=0.219,0.031;MQ=58.86;MQRankSum=0.680;QD=29.26;ReadPosRankSum=0.832;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,33,0:33:98:1|1:87616232_T_C:1400,98,0,1400,98,1400:87616232	11	3	1	5
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:93,53:146:99:391,0,1471	2	0	18	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	6153.33	123	chr4	99347057	.	C	G	6153.33	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-8.170e-01;DP=2885;ExcessHet=20.9642;FS=293.864;InbreedingCoeff=-0.6783;MLEAC=17;MLEAF=0.425;MQ=59.97;MQRankSum=0.00;QD=3.24;ReadPosRankSum=-6.350e-01;SOR=13.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,33:114:99:.:.:104,0,1242	4	0	16	1
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.988	D	0.000	D	1.000	D	3.525	H	3.41	T	0.511	D	0.660	D	0.889	3.815	19.37	5.65	2.824	7.496	19.084	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	534.79	173	chr4	101196011	.	C	G	534.79	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.373e+00;DP=2716;ExcessHet=1.1607;FS=204.564;InbreedingCoeff=-0.4002;MLEAC=9;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.07;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,69:201:99:.:.:241,0,2001	2	0	5	14
chr4	103123040	103123040	G	C	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon41:c.C6611G:p.S2204C	.	.	440	1031	46	5	0	56	0.02644	.	.	363639	not_provided|CENPE-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.001	B	.	.	1.000	N	0.14	N	-0.0	T	-1.035	T	0.078	T	0.156	1.297	10.25	1.88	0.397	0.256	6.601	0.066	.	0.0053	0.00599042	0.0071	0.0009	0.0032	0	0.0008	0.0070	0.0165	0.0202	0.0067658	1046	154602	rs61751592	0.0069	0.0069	0.0062	0.0075	0.0205	0.0067	0.0067	0.0197	0.0194	0.0011	0.0030	0.0191	5.043e-05	0.0007	0.0146	0.0063	0.0080	0.0205	0.0055	0.0055	0.0057	0.0054	0.0185	0.0052	0.0051	0.0154	0.0142	0.0011	0	0.0055	0.0245	0.0002	0.0006	0.0171	0.0074	0.0095	0.0185	0.289	0.25457	T	0.229	0.25210	T	0.0	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.06	0.04898	N	-0.0	0.62762	T	2.46	0.00478	N	0.214	0.24010	-1.0353	0.18762	T	0.078	0.31012	T	9	0.0037833452	0.00071	T	.	.	.	0.066	0.19193	.	.	0.27715347029	0.27323	0.10530451158643887	0.10460	0.0379199756883	0.04027	0.339432835579	0.16352	T	0.029523	0.21136	T	-0.521914	0.00429	T	-0.506213	0.21705	T	0.00245141748632163	0.00025	T	0.589341	0.22547	T	0.03519231	0.04095	0.044902492	0.05921	0.036797013	0.04597	0.05709746	0.10320	-4.187	0.26563	T	.	.	0.091	0.16973	B	.;.;.	.;.;.	0.848608	0.12204	8.752	0.96871932267467953	0.31423	0.01065	0.03951	N	AEFBI	0.035227	0.04498	N	-0.922340630374555	0.10321	0.4926205	-0.873426888120818	0.12725	0.6562592	0.00249431243295335	0.09478	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	1.88	0.24630	0.103000	0.15128	0.725000	0.21043	0.509000	0.23192	0.000000	0.06391	0.001000	0.17328	0.889000	0.42754	0.1106:0.4497:0.4397:0.0	6.601	0.21892	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1000.98	39	chr4	103123040	.	G	C	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.330e-01;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.35;ReadPosRankSum=1.48;SOR=0.757	GT:AD:DP:GQ:PL	0/1:59,48:107:99:1015,0,1406	20	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	-0.26	T	0.412	D	0.664	D	0.981	4.876	27.9	5.42	2.704	7.410	19.578	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1269.88	119	chr4	106925843	.	C	T	1269.88	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.410e+00;DP=2366;ExcessHet=2.5830;FS=168.069;InbreedingCoeff=-0.2387;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=0.981;SOR=11.937	GT:AD:DP:GQ:PL	0/1:114,30:144:44:44,0,2333	12	0	7	2
chr4	112265042	112265042	C	T	exonic	AP1AR	.	nonsynonymous SNV	AP1AR:NM_001128426:exon6:c.C316T:p.P106S	.	.	438	1070	14	0	0	14	0.00649954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.01	B	0.033	B	0.002	N	1.000	N	1.245	L	1.03	T	-1.028	T	0.054	T	0.094	1.480	10.89	3.31	0.407	0.496	7.785	0.065	.	0.0059	0.00239617	0.0062	0.0011	0.0035	0	0.0104	0.0089	0.0044	0.0019	0.0060737	939	154602	rs116585845	0.0072	0.0073	0.0073	0.0070	0.0083	0.0070	0.0070	0.0081	0.0081	0.0012	0.0029	0.0022	0	0.0077	0.0070	0.0083	0.0064	0.0023	0.0053	0.0053	0.0055	0.0050	0.0087	0.0050	0.0049	0.0081	0.0079	0.0017	0	0.0024	0.0009	0	0.0088	0	0.0087	0.0038	0.0012	0.565	0.16574	T	0.061	0.45530	T	0.01	0.15535	B	0.017	0.22329	B	0.001918	0.37691	N	0.248358	1	0.08975	N	.	.	.	1.01	0.41058	T	-1.09	0.32991	N	0.086	0.14905	-1.0279	0.21136	T	0.054	0.22808	T	10	0.0026318133	0.00040	T	.	.	.	0.065	0.18881	.	.	0.187035705434	0.18338	0.06650656370192728	0.06588	0.370222164933	0.38549	0.234661504626	0.02330	T	0.059302	0.31079	T	-0.598193	0.00150	T	-0.624933	0.10801	T	0.0049647755144774	0.00053	T	0.69563	0.34774	T	0.042428195	0.06434	0.040625643	0.04433	0.042428195	0.06433	0.040625643	0.04432	-1.739	0.02566	T	.	.	0.072	0.04356	B	.;.	.;.	1.390817	0.18038	13.51	0.94894397029463051	0.25739	0.20612	0.21105	N	AEFBI	0.071261	0.14179	N	-0.700667595112341	0.16003	0.8115374	-0.643502138256319	0.18380	0.9816589	0.812912584671656	0.24387	0.732398	0.92422	0	0.633656	0.55848	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.99	3.31	0.37025	0.527000	0.22695	2.314000	0.32094	0.599000	0.40250	0.000000	0.06391	0.015000	0.20450	0.942000	0.48361	0.0:0.6146:0.2471:0.1383	7.785	0.28249	953	0.10115	.;.	AP1AR|AP1AR|AP1AR|AP1AR|AP1AR|AP1AR|AP1AR	Artery_Tibial|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1620.98	38	chr4	112265042	.	C	T	1620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.05;ReadPosRankSum=0.099;SOR=0.704	GT:AD:DP:GQ:PL	0/1:45,56:101:99:1635,0,1098	20	0	1	0
chr4	124671643	124671643	C	T	exonic	ANKRD50	.	nonsynonymous SNV	ANKRD50:NM_001167882:exon3:c.G1097A:p.G366E	.	.	431	1068	22	1	0	24	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.96	D	0.000	D	1.000	D	2.545	M	1.67	T	-0.633	T	0.215	T	0.985	3.628	18.45	4.98	2.590	7.164	18.448	0.636	0.158767906107	.	0.000199681	0.0004	0	8.685e-05	0	0	2.998e-05	0	0.0029	0.0003363	52	154602	rs200427768	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0032	0	0.0003	7.655e-05	0	0	0.0017	4.947e-05	0.0003	0.0036	0.0002	0.0002	0.0002	0.0001	0.0029	0.0001	8.72e-05	0.0018	0.0014	0	0	0	0	0.0002	0	0	0.0001	0.0005	0.0029	0.067	0.40068	T	0.003	0.76473	D	0.999	0.77913	D	0.96	0.70309	D	0.000004	0.62929	D	0.060049	1	0.81001	D	3.115	0.87836	M	1.67	0.27331	T	-4.57	0.78721	D	0.942	0.95256	-0.6334	0.63426	T	0.215	0.57679	T	10	0.13570702	0.25823	T	0.158768	0.83910	D	0.636	0.86078	.	.	0.773968156545	0.77189	0.7598854751198307	0.75936	0.788452715211	0.65643	0.889455974102	0.95193	D	0.200385	0.55795	T	-0.0749454	0.40534	T	0.117464	0.78066	D	0.237247473583348	0.22292	T	0.935306	0.75759	D	0.4090051	0.61350	0.53907555	0.73363	0.4090051	0.61351	0.53907555	0.73363	-7.949	0.61125	D	.	.	0.714	0.73550	P	.;.	.;.	4.603536	0.72932	25.9	0.99753849789489613	0.84460	0.98707	0.85832	D	AEFBI	0.871796	0.79336	D	0.792809154617797	0.85654	8.640904	0.737730294685214	0.85237	8.521269	0.999999999972484	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.98	4.98	0.65679	7.232000	0.77582	7.460000	0.59046	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.0:1.0:0.0:0.0	18.448	0.90638	933	0.16026	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	0	0	0	0	0	0	0	0	0	0	0	0.04762	6667.11	34	chr4	124671643	.	C	T	6667.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.39;DP=1241;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.454;SOR=0.724	GT:AD:DP:GQ:PL	0/1:131,151:282:99:4123,0,3589	19	0	2	0
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,77,0:77:99:3373,231,0,3373,231,3373	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,77,0:77:99:3373,231,0,3373,231,3373	0	20	0	0
chr4	139889919	139889924	TGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1517del:p.Q509_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:42,4,0,40,0:86:99:.:.:1230,1221,3095,1368,3041,3170,0,1609,1748,1612,1368,3041,3170,1748,3170	12	0	3	0
chr4	139889910	139889924	TGCTGCTGCTGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1526del:p.Q506_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369025793	0.0004	0.0005	0.0004	0.0004	0.0082	0.0004	0.0004	0.0063	0.0057	0.0029	0.0007	3.924e-05	0.0003	1.908e-05	0.0082	0.0003	0.0008	0.0002	0.0029	0.0029	0.0033	0.0025	0.0035	0.0025	0.0024	0.0025	0.0023	0.0029	0	0.0022	0	0.0026	0	0.0233	0.0035	0.0093	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:42,4,0,40,0:86:99:.:.:1230,1221,3095,1368,3041,3170,0,1609,1748,1612,1368,3041,3170,1748,3170	12	0	3	0
chr4	139889922	139889924	TGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1514del:p.Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:42,4,0,40,0:86:99:.:.:1230,1221,3095,1368,3041,3170,0,1609,1748,1612,1368,3041,3170,1748,3170	12	0	3	0
chr4	139889924	139889924	-	TGC	exonic	MAML3	.	nonframeshift insertion	MAML3:NM_018717:exon2:c.1511_1512insGCA:p.Q510_H511insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:42,4,0,40,0:86:99:.:.:1230,1221,3095,1368,3041,3170,0,1609,1748,1612,1368,3041,3170,1748,3170	12	0	3	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,28:90:99:0|1:140563137_C_G:278,0,1848:140563137	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,28:90:99:0|1:140563137_C_G:278,0,1848:140563137	1	0	20	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,148,0:148:99:.:.:4950,444,0,4950,444,4950	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,36,0,0,0:36:99:1444,107,0,1444,107,1444,1444,107,1444,1444,1444,107,1444,1444,1444	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,36,0,0,0:36:99:1444,107,0,1444,107,1444,1444,107,1444,1444,1444,107,1444,1444,1444	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:0,36,0,0,0:36:99:1444,107,0,1444,107,1444,1444,107,1444,1444,1444,107,1444,1444,1444	0	10	4	0
chr4	158645088	158645088	A	T	exonic	RXFP1	.	nonsynonymous SNV	RXFP1:NM_001253729:exon13:c.A1151T:p.Y384F	.	.	430	1051	39	2	0	43	0.0200466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.001	B	0.01	B	0.000	D	1.000	D	-0.54	N	1.27	T	-1.078	T	0.025	T	0.491	1.836	12.10	4.57	0.997	6.131	11.844	0.187	.	0.0018	0.00379393	0.0024	0.0006	0.0022	0	0.0005	0.0024	0.0022	0.0060	0.0024579	380	154602	rs76517567	0.0028	0.0028	0.0026	0.0029	0.0087	0.0027	0.0027	0.0068	0.0061	0.0006	0.0015	0.0004	0	0.0004	0.0087	0.0028	0.0025	0.0066	0.0021	0.0021	0.0019	0.0022	0.0071	0.0019	0.0018	0.0052	0.0046	0.0005	0	0.0017	0	0	0.0004	0.0136	0.0033	0.0019	0.0071	0.678	0.04713	T	1.0	0.02471	T	0.0	0.07471	B	0.001	0.14941	B	0.000000	0.84330	D	0.055071	0.998881	0.45620	D	0.125	0.08623	N	1.27	0.36146	T	-0.14	0.10656	N	0.347	0.38950	-1.0780	0.07741	T	0.025	0.10777	T	10	0.00875029	0.00198	T	.	.	.	0.187	0.46274	.	.	0.42828666871	0.42450	0.4035505940782954	0.40271	0.134654301779	0.15172	0.440155625343	0.30598	T	0.003769	0.33668	T	-0.439762	0.01297	T	-0.401852	0.33168	T	0.0134647964104998	0.00245	T	0.885211	0.61002	D	0.17550364	0.38412	0.10294074	0.24686	0.17550364	0.38412	0.10294074	0.24686	-4.574	0.32134	T	.	.	0.088	0.13174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.035924	0.25880	16.92	0.91066534062621174	0.20318	0.97637	0.76068	D	AEFDBI	0.862811	0.78119	D	-0.397811946846213	0.25546	1.387581	-0.132525958353084	0.34088	1.956928	0.999999948736557	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	4.57	0.55860	5.168000	0.64817	1.582000	0.27480	0.756000	0.94297	1.000000	0.71638	0.231000	0.23784	0.998000	0.85391	0.9314:0.0:0.0686:0.0	11.844	0.51644	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1762.98	34	chr4	158645088	.	A	T	1762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=830;ExcessHet=0.0000;FS=1.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-2.100e-02;SOR=0.905	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1777,0,1592	20	0	1	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.476	P	0.223	B	0.002	U	1.000	D	1.65	L	1.58	T	-0.539	T	0.308	T	0.638	1.750	11.81	5.55	2.607	7.876	19.497	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	845.61	55	chr4	168898669	.	G	A	845.61	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.973e+00;DP=1311;ExcessHet=0.6776;FS=114.106;InbreedingCoeff=-0.0993;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=0.566;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,34:116:99:0|1:168898668_T_C:319,0,1329:168898668	17	0	4	0
chr4	186165466	186165466	T	C	splicing	FAM149A	NM_001367768:exon11:c.2010+2T>C;NM_001006655:exon11:c.1164+2T>C;NM_001350179:exon11:c.1164+2T>C;NM_001350178:exon11:c.1164+2T>C;NM_015398:exon11:c.1164+2T>C	.	.	.	.	.	.	.	.	.	.	.	0.9997	0.838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.510	11.00	5.55	2.333	4.237	13.317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1300674529	6.841e-07	6.84e-07	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118039	0.66175	D	0.0324083	0.72435	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	4.151745	0.62284	24.4	0.98534522004825054	0.42632	0.90056	0.50939	D	AEFBI	.	.	.	0.937517340343304	0.93473	12.06262	0.750471313692876	0.86190	8.811363	0.972080066470527	0.29341	0.078448	0.01964	0	0.059962	0.00310	0	0.083675	0.02720	0	0.057018	0.00518	0	0.972276	0.74602	5.55	5.55	0.83298	4.243000	0.58516	7.795000	0.68990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.107000	0.18608	0.0:0.0:0.0:1.0	13.317	0.59849	690	0.58899	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1578.98	33	chr4	186165466	.	T	C	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=821;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.92;SOR=0.778	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1593,0,1321	20	0	1	0
chr4	186709230	186709230	T	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.A598G:p.T200A,	.	.	.	.	.	.	.	.	.	.	.	2015272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.619	P	0.442	B	0.000	D	1.000	D	1.205	L	0.76	T	-1.012	T	0.133	T	0.442	3.816	19.38	5.2	2.183	7.868	14.875	0.213	0.0139204021409	.	.	8.281e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs759289718	2.052e-06	2.052e-06	1.361e-06	2.751e-06	2.987e-05	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0	8.994e-07	0	1.159e-05	2.628e-05	2.627e-05	3.855e-05	1.345e-05	9.655e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.655e-05	0	0	0	0	0	0	0	0	0	0.02	0.72154	D	0.025	0.56192	D	0.619	0.39896	P	0.442	0.45773	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.74	0.45129	L	0.76	0.49919	T	-3.32	0.76496	D	0.778	0.77507	-1.0117	0.26385	T	0.133	0.44642	T	10	0.3749842	0.53762	T	0.01392	0.33681	T	0.213	0.50496	0.391	0.41443	0.607915438731	0.60477	0.35044020351055066	0.34958	0.1757065281	0.19779	0.38082292676	0.22373	T	0.417799	0.77033	T	-0.179012	0.23883	T	-0.258246	0.49000	T	0.454565449942856	0.30965	T	0.865913	0.59309	D	0.35197732	0.57220	0.26765698	0.52625	0.35197732	0.57220	0.26765698	0.52624	-7.453	0.57279	T	.	.	0.091	0.14751	B	.;.;.	.;.;.	3.999305	0.58918	24.0	0.99806934635467981	0.89085	0.96153	0.67775	D	AEFBCI	0.931924	0.92150	D	0.281637925661167	0.55216	3.68599	0.381661247129713	0.60434	4.230999	0.999999999954201	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	5.2	5.2	0.71720	8.017000	0.88732	5.097000	0.47403	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.0:0.0:1.0	14.875	0.70125	945	0.12563	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2841.98	40	chr4	186709230	.	T	C	2841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=1977;ExcessHet=0.0000;FS=1.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=0.640;SOR=0.831	GT:AD:DP:GQ:PL	0/1:89,104:193:99:2856,0,2279	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.952	P	0.4	B	0.000	D	1.000	D	.	.	1.78	T	-0.892	T	0.126	T	0.825	3.426	17.58	3.71	2.022	4.314	13.859	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	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	305.29	14	chr4	189953101	.	C	T	305.29	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.690e-01;DP=450;ExcessHet=0.6776;FS=1.232;InbreedingCoeff=-0.1117;MLEAC=4;MLEAF=0.095;MQ=53.46;MQRankSum=-2.187e+00;QD=4.49;ReadPosRankSum=1.26;SOR=0.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:189953101_C_T:51,0,456:189953101	17	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.168	16.60	3.53	1.917	8.872	13.458	.	.	.	.	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	320.37	17	chr4	189953126	.	G	T	320.37	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.690e-01;DP=417;ExcessHet=0.6776;FS=2.758;InbreedingCoeff=-0.1133;MLEAC=4;MLEAF=0.095;MQ=52.68;MQRankSum=-2.362e+00;QD=5.09;ReadPosRankSum=1.34;SOR=0.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:189953101_C_T:51,0,456:189953101	17	0	4	0
chr5	1037960	1037960	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C943T:p.R315W,	.	.	425	1060	35	2	0	39	0.0180639	.	.	709550	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	N	1.87	L	0.77	T	-0.891	T	0.164	T	0.333	1.148	9.677	-0.100	0.068	-0.438	9.954	0.115	.	0.0083	0.00379393	0.0091	0.0024	0.0054	0.0001	0.0018	0.0135	0.0099	0.0051	0.0073673	1139	154602	rs35433301	0.0096	0.0095	0.0095	0.0096	0.0332	0.0094	0.0094	0.0293	0.0278	0.0023	0.0049	0.0433	0.0001	0.0015	0.0332	0.0100	0.0118	0.0041	0.0076	0.0076	0.0076	0.0076	0.0101	0.0073	0.0071	0.0094	0.0092	0.0019	0.0274	0.0086	0.0472	0.0002	0.0022	0.0238	0.0101	0.0095	0.0050	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000030	0.55875	D	0.000000	0.999908	0.19694	N	2.135	0.59519	M	0.77	0.49642	T	-4.62	0.79143	D	0.469	0.50508	-0.8906	0.48881	T	0.164	0.50160	T	10	0.006133914	0.00138	T	.	.	.	0.115	0.32236	.	.	0.457377140028	0.45363	0.2829412715231285	0.28207	0.300538019554	0.32405	0.621095120907	0.55884	T	0.543633	0.84418	D	-0.456211	0.01037	T	-0.42013	0.31060	T	0.0627240683940684	0.07590	T	0.747625	0.36808	T	0.310553	0.53834	0.1938994	0.42984	0.310553	0.53834	0.1938994	0.42983	-5.409	0.41006	T	.	.	0.143	0.31381	B	.	.	2.911736	0.38627	20.8	0.99506249474795516	0.68322	0.08312	0.14257	N	AEFBCI	0.112808	0.22283	N	-0.557253112866003	0.20257	1.066543	-0.81538513277936	0.14123	0.7363064	0.0651303777871885	0.15351	0.653496	0.48692	0	0.588066	0.40923	0	0.596874	0.31795	0	0.562822	0.20929	0	.	.	3.73	-0.0997	0.12960	-0.051000	0.11840	0.646000	0.20366	-0.252000	0.07121	0.000000	0.06391	0.156000	0.23222	0.006000	0.07323	0.5464:0.4536:0.0:0.0	9.954	0.40823	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	4171.68	35	chr5	1037960	.	C	T	4171.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.517;DP=932;ExcessHet=0.3300;FS=3.783;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.385;SOR=0.911	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1201,0,885	18	0	3	0
chr5	1221252	1221254	TCT	-	exonic	SLC6A19	.	nonframeshift deletion	SLC6A19:NM_001003841:exon11:c.1640_1642del:p.F550del,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.123e-05	0.0002	0	0	0	1.511e-05	0.0011	0.0004	6.5e-06	1	154602	rs760474536	5.541e-05	5.541e-05	4.22e-05	6.875e-05	0.0003	4.543e-05	4.155e-05	0.0002	0.0002	2.987e-05	4.473e-05	0	0	0	0.0003	3.777e-05	8.279e-05	0.0003	8.536e-05	8.53e-05	0.0001	4.029e-05	0.0002	4.954e-05	3.96e-05	9.544e-05	6.947e-05	0.0002	0	0	0	0	0	0	4.41e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2753.94	33	chr5	1221251	.	CTCT	C	2753.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=938;ExcessHet=0.0000;FS=7.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.39;ReadPosRankSum=2.31;SOR=1.321	GT:AD:DP:GQ:PL	0/1:71,71:142:99:2768,0,2732	20	0	1	0
chr5	1294282	1294282	C	T	exonic	TERT	.	nonsynonymous SNV	TERT:NM_001193376:exon2:c.G604A:p.A202T	.	.	0	1514	8	0	0	8	0.00263505	.	.	27768	not_specified|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_1|TERT-related_disorder|Dyskeratosis_congenita|Dyskeratosis_congenita,_autosomal_dominant_2|Idiopathic_Pulmonary_Fibrosis|not_provided|Aplastic_anemia	MedGen:CN169374|MONDO:MONDO:0013878,MedGen:C3553617,OMIM:614742,Orphanet:88|.|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989|MeSH:D054990,MedGen:C1800706|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.62	T	0.277	B	0.154	B	0.000	N	1.000	N	0	N	-3.96	D	0.105	D	0.671	D	0.66	1.123	9.579	0.896	0.313	-0.127	3.154	0.549	0.121653376767	0.0002	0.000199681	0.0003	0.0006	0.0020	0	0	0.0002	0	0	0.0001876	29	154602	rs121918661	0.0001	0.0002	0.0001	0.0002	0.0059	0.0001	0.0001	0.0044	0.0038	0.0003	0.0009	0.0003	0	0	0.0059	5.864e-05	0.0007	0.0002	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	9.617e-05	0	0.0005	0	0	0	0.0103	0.0002	0	0.0004	0.556	0.06461	T	0.615	0.07568	T	0.182	0.31978	B	0.074	0.34351	B	0.000001	0.00162	N	10.840000	1	0.08975	N	0	0.06538	N	-4.05	0.96496	D	0.23	0.04613	N	0.497	0.53006	0.105	0.84258	D	0.671	0.88598	D	10	0.01952967	0.00437	T	0.121653	0.80246	D	0.549	0.81310	.	.	0.984026434131	0.98385	0.7070260341131108	0.70644	1.00927309204	0.74700	0.624305009842	0.56337	T	0.309758	0.68176	T	-0.13286	0.31032	T	-0.0377342	0.67854	D	0.00706015160306881	0.00080	T	0.528747	0.17479	T	0.04688395	0.07921	0.05480215	0.09493	0.04297317	0.06616	0.0626218	0.12280	-4.341	0.28748	T	0.1458833443905361	0.16783	0.075	0.12797	B	.;.	.;.	0.216213	0.05992	2.432	0.97283983038489508	0.33195	0.04223	0.09740	N	AEFDBCI	0.052098	0.09267	N	-1.15232331376474	0.05742	0.2625607	-1.21948073743397	0.05597	0.2671362	0.999616111389078	0.40981	0.652421	0.48094	0	0.541556	0.11502	0	0.64067	0.45733	0	0.562822	0.20929	0	.	.	1.83	0.896	0.18385	-1.972000	0.01592	-1.153000	0.06175	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2579:0.5683:0.0:0.1738	3.154	0.06109	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1579.98	39	chr5	1294282	.	C	T	1579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.618e+00;DP=897;ExcessHet=0.0000;FS=1.449;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=0.804;SOR=0.874	GT:AD:DP:GQ:PL	0/1:56,64:122:99:1594,0,1613	20	0	1	0
chr5	13776582	13776582	C	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon55:c.G9230T:p.R3077L,	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	1	1517	4	0	0	4	0.00131666	.	.	455368	Primary_ciliary_dyskinesia|not_provided|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.988	D	0.968	D	0.000	D	1.000	D	2.845	M	0.71	T	-0.233	T	0.373	T	0.913	5.469	35	5.79	2.726	7.684	20.022	0.605	0.104392129228	.	0.000399361	0.0002	0	0	0	0	0.0001	0.0022	0.0009	0.0002135	33	154602	rs113742238	0.0001	0.0001	7.76e-05	0.0002	0.0014	0.0001	0.0001	0.0009	0.0008	2.989e-05	0	0	0	0	0.0014	6.656e-05	0.0002	0.0011	0.0001	0.0001	0.0001	9.403e-05	0.0008	7.089e-05	5.746e-05	0.0003	0.0002	2.407e-05	0	0.0002	0	0	0	0.0034	0.0001	0	0.0008	0.001	0.78490	D	.	.	.	0.988	0.62325	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.72	0.94773	H	0.71	0.51228	T	-6.97	0.93544	D	0.908	0.90932	-0.2326	0.76819	T	0.373	0.73167	T	10	0.64469194	0.69257	D	0.104392	0.77895	D	0.605	0.84452	.	.	0.842632066669	0.84112	0.9010516608514801	0.90077	0.325037413155	0.34658	0.669851720333	0.62816	T	0.641229	0.89001	D	-0.00321967	0.51211	T	0.177047	0.81824	D	0.837896227836609	0.49156	D	0.957904	0.84151	D	0.9044249	0.91781	0.924828	0.96735	0.9044249	0.91782	0.924828	0.96736	-12.525	0.87314	D	0.4893990552088194	0.56657	0.531	0.65985	A	.	.	4.171729	0.62732	24.5	0.99856428801667285	0.93548	0.98727	0.86082	D	AEFI	0.879832	0.80605	D	0.93884481928231	0.93528	12.09985	0.906761164549199	0.95860	14.04432	0.999999999999618	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.79	5.79	0.91751	6.081000	0.70951	7.579000	0.60911	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	20.022	0.97507	687	0.59234	Dynein heavy chain, AAA module D4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1189.98	33	chr5	13776582	.	C	A	1189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.983;DP=837;ExcessHet=0.0000;FS=1.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-9.000e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1204,0,1442	20	0	1	0
chr5	16666729	16666729	G	A	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon41:c.C6140T:p.T2047M,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.976	D	0.451	P	.	.	1.000	D	0.69	N	-2.2	D	0.153	D	0.517	D	0.31	2.979	15.93	5.55	2.603	3.311	19.518	0.331	.	7.8e-05	0.00399361	0.0029	0	0	0.0002	0	7.046e-05	0	0.0193	0.0017982	278	154602	rs367593755	0.0010	0.0010	0.0006	0.0013	0.0152	0.0009	0.0009	0.0145	0.0142	0	2.261e-05	0	5.047e-05	0	0.0005	3.513e-05	0.0009	0.0152	0.0006	0.0006	0.0004	0.0008	0.0172	0.0005	0.0004	0.0142	0.0131	2.406e-05	0	0	0	0	0	0	0	0.0005	0.0172	0.006	0.61437	D	0.047	0.57104	D	0.976	0.58310	D	0.451	0.46123	P	.	.	.	.	0.984109	0.41145	D	1.245	0.31408	L	-2.22	0.87512	D	-1.16	0.37759	N	0.285	0.38848	0.153	0.85107	D	0.517	0.81922	D	9	0.0048452616	0.00103	T	.	.	.	0.331	0.65325	.	.	0.835573057445	0.83400	0.4412495170153938	0.44041	0.186795094325	0.20992	0.413193106651	0.26899	T	0.027146	0.46224	T	-0.294035	0.09234	T	-0.182813	0.56262	T	0.0511502807134386	0.05701	T	0.927207	0.74506	D	0.065808944	0.14100	0.18460608	0.41523	0.065808944	0.14100	0.18460608	0.41522	-5.758	0.44207	T	.	.	0.127	0.26917	B	.;.;.;.	.;.;.;.	4.392214	0.67793	25.1	0.99816057574149164	0.89973	0.86936	0.46331	D	AEFDGBCI	0.336769	0.43479	N	0.354494260471025	0.58978	4.073523	0.450025473087453	0.64718	4.733574	0.999999902261986	0.74766	0.706548	0.73137	0	0.615948	0.52940	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	3.410000	0.52417	9.767000	0.81536	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	19.518	0.95167	799	0.44747	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1277.98	34	chr5	16666729	.	G	A	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-02;DP=900;ExcessHet=0.0000;FS=0.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-4.640e-01;SOR=0.585	GT:AD:DP:GQ:PL	0/1:81,58:139:99:1292,0,1950	20	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.073	B	0.025	B	0.000	D	1.000	D	0.695	N	-3.35	D	0.043	D	0.661	D	0.555	3.882	19.73	5.58	2.641	9.439	19.567	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	663.75	81	chr5	36976312	.	G	C	663.75	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.011e+00;DP=2556;ExcessHet=3.5521;FS=235.068;InbreedingCoeff=-0.4165;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.981;SOR=11.906	GT:AD:DP:GQ:PL	0/1:116,32:154:99:128,0,2321	4	0	8	9
chr5	41000303	41000303	C	T	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon39:c.G4399A:p.E1467K,	.	.	.	.	.	.	.	.	.	.	.	2360823	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.82	T	0.038	B	0.047	B	0.012	N	0.856	N	1.545	L	-0.16	T	-0.916	T	0.191	T	0.5	2.981	15.94	5.99	2.840	3.549	15.978	0.188	0.0133863094831	0.0003	.	6.645e-05	0.0007	0	0	0	0	0	6.063e-05	5.17e-05	8	154602	rs199956857	1.71e-05	1.71e-05	1.225e-05	2.201e-05	0.0005	1.174e-05	9.92e-06	0.0003	0.0002	0.0005	0	0	0	0	0.0002	0	8.282e-05	3.478e-05	5.259e-05	5.254e-05	7.71e-05	2.692e-05	0.0002	2.558e-05	1.831e-05	7.895e-05	5.59e-05	0.0002	0	6.55e-05	0	0	0	0	0	0	0	0.109	0.29288	T	0.03	0.54934	D	0.038	0.21002	B	0.047	0.24832	B	0.011754	0.29415	N	0.291885	0.889364	0.28424	N	0.915	0.23335	L	-0.16	0.65378	T	-1.35	0.33598	N	0.466	0.51761	-0.9157	0.46129	T	0.191	0.54330	T	10	0.12809941	0.24366	T	0.013386	0.32756	T	0.188	0.46444	.	.	0.152612264143	0.14878	0.3442973030833649	0.34343	0.026477229634	0.02702	0.538637280464	0.44254	T	0.024619	0.18566	T	-0.293206	0.09317	T	-0.301463	0.44571	T	0.038754137959092	0.03466	T	0.829717	0.49530	T	0.1614194	0.36150	0.111151345	0.26809	0.1614194	0.36150	0.111151345	0.26809	-5.598	0.42774	T	.	.	0.249	0.54689	B	.;.	.;.	2.717053	0.35533	19.92	0.99760713827315362	0.85011	0.86532	0.45832	D	AEFDBI	0.278721	0.39294	N	-0.101497036247645	0.37328	2.170115	0.08372936450353	0.43731	2.668816	0.986906093342122	0.31148	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.99	5.99	0.97299	2.439000	0.44504	5.947000	0.51581	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	15.978	0.79875	510	0.75209	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1659.98	41	chr5	41000303	.	C	T	1659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.316e+00;DP=914;ExcessHet=0.0000;FS=3.773;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-9.400e-01;SOR=0.452	GT:AD:DP:GQ:PL	0/1:77,76:153:99:1674,0,1822	20	0	1	0
chr5	52922775	52922775	-	G	splicing	ITGA1	NM_181501:exon18:c.2293-2->G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1916.94	34	chr5	52922775	.	A	AG	1916.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.465e+00;DP=827;ExcessHet=0.0000;FS=2.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.09;ReadPosRankSum=-1.633e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1931,0,1850	20	0	1	0
chr5	56176213	56176213	C	G	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon4:c.G251C:p.G84A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3	M	-0.02	T	0.354	D	0.613	D	0.776	4.963	28.9	5.49	2.564	6.485	18.973	0.611	0.0825834433114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.085	0.87354	M	-0.69	0.72678	T	-5.39	0.85027	D	0.785	0.80473	0.354	0.88407	D	0.613	0.86309	D	10	0.9550423	0.94860	D	0.082583	0.73931	D	0.611	0.84773	0.906	0.98027	0.80381549427	0.80198	0.6107256032422304	0.61004	0.823692342368	0.67291	0.811722517014	0.83755	D	0.063944	0.33257	T	0.260345	0.79562	D	0.136191	0.79297	D	0.999545633792877	0.97846	D	0.933807	0.80559	D	0.94589317	0.95847	0.9505576	0.98433	0.94589317	0.95847	0.9505576	0.98433	-7.578	0.58157	D	.	.	0.930	0.85039	P	.;.;.	.;.;.	4.686076	0.75034	26.3	0.99841143022474399	0.92143	0.95813	0.66263	D	AEFDGBIJ	0.745663	0.68827	D	0.886070054867916	0.91062	10.69638	0.833914671728822	0.92042	11.20494	0.999999999999951	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.491513	0.07944	0	0.631631	0.49550	0	.	.	5.49	5.49	0.81022	6.866000	0.75301	7.630000	0.62690	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.973	0.92701	269	0.89438	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1394.98	35	chr5	56176213	.	C	G	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.286e+00;DP=863;ExcessHet=0.0000;FS=2.871;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=-8.590e-01;SOR=0.489	GT:AD:DP:GQ:PL	0/1:94,65:159:99:1409,0,2503	20	0	1	0
chr5	56815748	56815748	C	T	exonic	MAP3K1	.	nonsynonymous SNV	MAP3K1:NM_005921:exon1:c.C175T:p.R59W,	46XY sex reversal 6, Autosomal dominant	.	2	1518	1	1	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.646	P	0.013	N	0.984	D	0.55	N	-0.69	T	-0.566	T	0.237	T	0.253	4.496	24.1	2.78	1.642	1.202	10.231	0.220	0.972069044743	.	.	0.0019	0	0	0	.	0	0	0.0026	7.76e-05	12	154602	rs749840532	0.0001	0.0002	6.77e-05	0.0001	0.0011	8.803e-05	8.205e-05	0.0009	0.0008	0	0.0002	0	0	0	0.0008	5.466e-05	0.0001	0.0011	3.968e-05	3.941e-05	3.879e-05	4.06e-05	0.0004	1.724e-05	1.135e-05	7.29e-05	3.029e-05	2.413e-05	0	0.0001	0	0	0	0	0	0.0005	0.0004	0.0	0.91255	D	0.025	0.56192	D	0.997	0.70673	D	0.646	0.52296	P	0.013093	0.28955	N	0.148799	0.983988	0.40085	D	0.345	0.11182	N	-0.69	0.72678	T	-0.22	0.10480	N	0.357	0.39861	-0.5657	0.66185	T	0.237	0.60403	T	10	0.059810013	0.07247	T	0.972069	0.99834	D	0.220	0.51569	0.338	0.32816	0.507398668792	0.50380	0.14048827901812413	0.13971	0.629891857601	0.57002	0.951246976852	0.99777	D	0.082001	0.36728	T	-0.249248	0.14191	T	-0.160883	0.58272	T	0.142035077591799	0.16449	T	0.735426	0.35200	T	0.30061865	0.52961	0.41013867	0.65282	0.30061865	0.52960	0.41013867	0.65282	-6.696	0.51780	T	.	.	0.711	0.73413	P	.	.	5.131293	0.85875	28.7	0.99880445329034218	0.95653	0.20086	0.20909	N	ALL	0.294453	0.40483	N	0.185230014867501	0.50490	3.238491	0.185036869818434	0.49027	3.11093	0.999999958921556	0.74766	0.024636	0.00146	3	0.166054	0.03914	2	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.74	2.78	0.31702	0.834000	0.27171	4.053000	0.41524	0.482000	0.22156	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.7957:0.2043:0.0	10.231	0.42432	902	0.24074	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	698.98	31	chr5	56815748	.	C	T	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=733;ExcessHet=0.0000;FS=4.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.64;ReadPosRankSum=0.171;SOR=0.915	GT:AD:DP:GQ:PL	0/1:15,27:42:99:713,0,296	20	0	1	0
chr5	56911377	56911377	A	-	exonic	SETD9	.	frameshift deletion	SETD9:NM_001171990:exon2:c.307delA:p.R103Dfs*29	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0002	9.694e-05	8.657e-05	0	0	0.0002	0.0011	0.0007	0.0002199	34	154602	rs575788115	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0001	0.0007	0.0005	2.991e-05	0.0001	7.668e-05	0	3.746e-05	0.0014	0.0001	0.0003	0.0007	0.0001	0.0001	0.0001	0.0001	0.0008	7.573e-05	6.278e-05	0.0003	0.0002	4.813e-05	0	0.0001	0.0003	0.0002	0	0	0.0001	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1736.94	41	chr5	56911376	.	CA	C	1736.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=912;ExcessHet=0.0000;FS=1.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=2.77;SOR=0.557	GT:AD:DP:GQ:PL	0/1:90,54:144:99:1751,0,3199	20	0	1	0
chr5	61332332	61332332	-	GGC	exonic	ZSWIM6	.	nonframeshift insertion	ZSWIM6:NM_020928:exon1:c.60_61insGGC:p.G26_S27insG,	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	6329.05	24	chr5	61332326	.	GGGCGGC	GGGCGGCGGC,G	6329.05	.	AC=9,3;AF=0.214,0.071;AN=42;BaseQRankSum=1.13;DP=807;ExcessHet=0.7800;FS=1.515;InbreedingCoeff=0.0667;MLEAC=9,3;MLEAF=0.214,0.071;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=-9.200e-02;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,7,0:24:99:.:.:242,0,652,294,673,967	11	1	6	0
chr5	61521314	61521314	A	G	exonic	ZSWIM6	.	nonsynonymous SNV	ZSWIM6:NM_020928:exon5:c.A1385G:p.K462R,	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.938	P	0.832	P	.	.	1.000	D	0.97	L	0.41	T	-0.917	T	0.183	T	0.667	2.764	15.20	5.31	2.019	7.115	15.278	0.207	0.00846202466103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.708	0.04069	T	0.596	0.08052	T	0.938	0.52538	P	0.832	0.59730	P	.	.	.	.	0.999969	0.52935	D	1.445	0.36358	L	0.41	0.57100	T	-1.73	0.41046	N	0.334	0.37509	-0.9167	0.45997	T	0.183	0.53148	T	9	0.2573164	0.43146	T	0.008462	0.22382	T	0.207	0.49555	0.442	0.49811	0.312608672186	0.30878	0.6717056442485151	0.67108	0.524515693656	0.50131	0.812857747078	0.83930	D	0.008811	0.08060	T	0.0594212	0.59540	T	-0.152422	0.59029	T	0.965910911560059	0.67417	D	0.807219	0.45710	T	0.11784891	0.27775	0.18002182	0.40774	0.11784891	0.27774	0.18002182	0.40774	-7.822	0.59851	D	0.08275249221538739	0.04402	0.173	0.37876	B	.	.	4.505717	0.70515	25.5	0.99773841752608339	0.86174	0.96989	0.72051	D	AEFBI	0.809370	0.73289	D	0.384387166239373	0.60575	4.248016	0.447271517714405	0.64540	4.711697	0.999999999993227	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	7.131000	0.76850	11.277000	0.91602	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.278	0.73460	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	878.98	34	chr5	61521314	.	A	G	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.490e-01;DP=784;ExcessHet=0.0000;FS=0.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.646;SOR=0.814	GT:AD:DP:GQ:PL	0/1:54,39:93:99:893,0,1379	20	0	1	0
chr5	73870081	73870081	C	T	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon13:c.C1499T:p.S500F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.975	D	0.659	P	.	.	1.000	N	2.33	M	3.1	T	-1.042	T	0.060	T	0.343	3.126	16.45	5.09	0.865	2.278	14.364	0.155	0.00908756903042	.	.	8.29e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs769938527	2.054e-06	2.052e-06	1.362e-06	2.752e-06	5.039e-05	5.5e-07	1.5e-07	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.59928	D	0.022	0.59732	D	0.794	0.56581	P	0.659	0.52771	P	.	.	.	.	0.771472	0.29432	N	1.15	0.29295	L	3.1	0.09822	T	-3.37	0.66780	D	0.174	0.24758	-1.0419	0.16741	T	0.060	0.25127	T	9	0.15202084	0.28722	T	0.009088	0.23917	T	0.155	0.40530	0.409	0.44395	0.256793551483	0.25290	0.43745099749524163	0.43662	0.0853455047791	0.09647	0.396597385406	0.24595	T	0.157341	0.49990	T	-0.37218	0.03485	T	-0.480238	0.24421	T	0.478536784648895	0.31844	T	0.939106	0.77081	D	0.23077469	0.45838	0.26226515	0.52016	0.23077469	0.45838	0.26226515	0.52015	-9.025	0.67858	D	.	.	0.210	0.43828	B	.;.;.;.;.;.	.;.;.;.;.;.	2.984992	0.39833	21.0	0.99586762978710897	0.73336	0.95795	0.66186	D	AEFBI	0.302023	0.41039	N	0.121938476345802	0.47487	2.974	0.139684431900981	0.46597	2.903211	0.999495871644561	0.40007	0.67177	0.52595	0	0.588015	0.36545	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.95	5.09	0.68647	2.324000	0.43491	3.345000	0.37739	-0.171000	0.11205	0.956000	0.33378	0.998000	0.33993	0.993000	0.69303	0.1101:0.829:0.0:0.0609	14.364	0.66355	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	53.01	43	chr5	73870081	.	C	T	53.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.131e+00;DP=809;ExcessHet=0.0000;FS=40.338;InbreedingCoeff=-0.0267;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.74;ReadPosRankSum=1.78;SOR=5.784	GT:AD:DP:GQ:PL	0/1:55,17:72:67:67,0,1119	20	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	1.000	N	1.61	L	0.06	T	-0.973	T	0.133	T	0.568	0.412	6.238	-2.42	-0.580	-0.566	0.344	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	835.18	74	chr5	75146001	.	A	G	835.18	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-2.826e+00;DP=1745;ExcessHet=6.1002;FS=93.999;InbreedingCoeff=-0.2987;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.04;SOR=11.037	GT:AD:DP:GQ:PL	0/1:92,20:112:80:80,0,1887	11	0	10	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R,	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.94	P	0.749	P	0.000	D	1.000	D	-0.205	N	-1.44	T	-0.130	T	0.367	T	0.889	4.515	24.3	5.29	2.134	7.877	15.569	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	163.69	50	chr5	79044510	.	T	C	163.69	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.041e+00;DP=1356;ExcessHet=0.6776;FS=85.976;InbreedingCoeff=-0.1009;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=0.743;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,16:93:27:.:.:27,0,1811	17	0	4	0
chr5	100856145	100856145	C	T	exonic	ST8SIA4	.	nonsynonymous SNV	ST8SIA4:NM_005668:exon4:c.G755A:p.R252Q,	.	.	.	.	.	.	.	.	.	.	.	2355467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.9	T	0.195	B	0.105	B	0.000	N	1.000	D	1.77	L	1.58	T	-1.095	T	0.065	T	0.379	3.545	18.08	4.45	1.466	5.864	13.282	0.152	0.0186066949194	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs781048508	2.258e-05	2.257e-05	2.042e-05	2.475e-05	0.0002	1.61e-05	1.416e-05	8.887e-05	7.054e-05	0	0	0	0	0	0	1.709e-05	1.656e-05	0.0002	1.972e-05	1.97e-05	2.57e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.006	0.61437	D	0.151	0.32355	T	0.195	0.29512	B	0.105	0.31087	B	0.000103	0.50451	N	0.078508	0.999985	0.54805	D	0.885	0.21608	L	1.58	0.29085	T	-0.57	0.17210	N	0.301	0.34012	-1.0949	0.04766	T	0.065	0.26948	T	10	0.13723817	0.26107	T	0.018607	0.40730	T	0.152	0.39956	0.599	0.72984	0.082315109003	0.07666	0.9035250074962626	0.90325	0.594624967329	0.54773	0.689371645451	0.65616	T	0.128226	0.45575	T	-0.239793	0.15375	T	-0.379569	0.35774	T	0.197557049205132	0.20281	T	0.928807	0.73814	D	0.1444946	0.33165	0.10617818	0.25540	0.1444946	0.33165	0.10617818	0.25539	-4.676	0.33112	T	.	.	0.075	0.05623	B	.	.	3.162719	0.42862	21.6	0.99948285012871207	0.99923	0.96615	0.70031	D	AEFDGBIJ	0.805032	0.72973	D	-0.188802917842513	0.33600	1.908056	-0.0815197045877418	0.36153	2.100457	0.999999999988326	0.74766	0.706548	0.73137	0	0.819298	0.99779	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.32	4.45	0.53365	5.935000	0.69862	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.924:0.0:0.076	13.282	0.59655	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1739.98	34	chr5	100856145	.	C	T	1739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.037e+00;DP=845;ExcessHet=0.0000;FS=1.313;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.293e+00;SOR=0.553	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1754,0,1893	20	0	1	0
chr5	102498660	102498660	C	T	exonic	SLCO6A1	.	nonsynonymous SNV	SLCO6A1:NM_001289002:exon1:c.G185A:p.G62D	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.982	D	0.679	P	0.000	N	1.000	N	0.805	L	0.98	T	-1.002	T	0.093	T	0.156	2.205	13.33	-2.27	-0.552	-1.606	4.850	0.119	0.00473244710884	0.0002	0.000998403	0.0010	0	0.0002	0	0	5.994e-05	0	0.0070	0.0008215	127	154602	rs139540296	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0004	0.0068	0.0066	2.987e-05	0.0001	0	7.557e-05	0	0.0012	4.317e-05	0.0003	0.0073	0.0002	0.0002	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.404e-05	0	0.0001	0	0	0	0.0068	5.88e-05	0	0.0058	0.178	0.29158	T	0.334	0.26467	T	0.94	0.60036	P	0.403	0.53442	B	0.000007	0.00162	N	7.138780	1	0.08975	N	0.805	0.20218	L	0.97	0.44856	T	-2.4	0.56630	N	0.085	0.19459	-1.0017	0.29430	T	0.093	0.35471	T	10	0.004949361	0.00106	T	0.004732	0.11784	T	0.119	0.33137	.	.	0.226586394389	0.22295	0.269533062504825	0.26866	0.281082333658	0.30582	0.273463100195	0.06597	T	0.121128	0.44386	T	-0.621164	0.00108	T	-0.660751	0.08215	T	0.0913392641420458	0.11376	T	0.59564	0.22108	T	0.088346764	0.20607	0.09878061	0.23563	0.088346764	0.20606	0.09878061	0.23562	-4.459	0.30348	T	.	.	0.225	0.60090	B	.;.;.;.	.;.;.;.	-0.695142	0.01332	0.073	0.982774921477231	0.39823	0.01833	0.05688	N	AEFBHCI	0.025238	0.01695	N	-0.855745855062781	0.11910	0.5774244	-1.06440168268425	0.08410	0.4133661	2.34430011323553E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.38	-2.27	0.06458	-2.998000	0.00718	-6.480000	0.01387	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2442:0.3875:0.3683	4.850	0.12895	238	0.90711	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4000.11	33	chr5	102498660	.	C	T	4000.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.501;DP=991;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.250;SOR=0.695	GT:AD:DP:GQ:PL	0/1:97,88:185:99:2342,0,2523	19	0	2	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	1/1:0,113,0,0:113:99:3191,338,0,3191,338,3191,3191,338,3191,3191	0	7	7	0
chr5	128261795	128261795	C	T	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon64:c.G8305A:p.G2769S,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	632969	Congenital_contractural_arachnodactyly|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.998	D	0.000	D	1.000	D	2.415	M	-1.95	D	0.587	D	0.767	D	0.786	4.208	21.8	5.48	2.861	7.609	19.556	0.610	0.111775454326	7.7e-05	.	6.59e-05	0	0	0	0	5.994e-05	0	0.0002	5.17e-05	8	154602	rs372206279	6.635e-05	6.704e-05	7.623e-05	5.638e-05	0.0002	5.562e-05	5.152e-05	6.234e-05	5.739e-05	2.987e-05	6.708e-05	0	0	0	0.0002	7.554e-05	0	9.275e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	2.939e-05	0	0	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.000000	1	0.81001	D	2.865	0.83145	M	-1.95	0.85003	D	-4.52	0.78302	D	0.805	0.81261	0.587	0.91733	D	0.767	0.92062	D	10	0.8623401	0.85460	D	0.111775	0.78968	D	0.610	0.84719	.	.	0.798769198521	0.79689	0.5916279051064456	0.59092	0.327145589072	0.34850	0.55291646719	0.46269	T	0.716778	0.91964	D	0.093123	0.63538	D	0.170288	0.81426	D	0.859431385993958	0.51000	D	0.89741	0.64114	D	0.4268068	0.62543	0.3470657	0.60366	0.4268068	0.62543	0.3470657	0.60365	-2.795	0.08138	T	0.1838444620592106	0.23818	0.089	0.12276	B	.;.;.	.;.;.	4.089098	0.60890	24.3	0.99765735878320383	0.85417	0.99509	0.96885	D	AEFBI	0.940536	0.94260	D	0.734910527599005	0.81922	7.636582	0.658400339400096	0.79237	7.04029	0.999999999997818	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.905000	0.86479	6.017000	0.52736	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.332000	0.25247	0.0:1.0:0.0:0.0	19.556	0.95339	749	0.51929	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3380.08	34	chr5	128261795	.	C	T	3380.08	.	AC=2;AF=0.048;AN=42;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.39;SOR=0.782	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3408,345,0	20	1	0	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.695	N	1.000	D	3.32	M	-5.39	D	1.101	D	0.983	D	0.927	4.525	24.4	4.86	2.698	7.609	18.546	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4583	1580.95	81	chr5	128288438	.	C	G	1580.95	.	AC=11;AF=0.458;AN=24;BaseQRankSum=-1.136e+00;DP=1745;ExcessHet=7.7275;FS=212.727;InbreedingCoeff=-0.5735;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=1.53;SOR=10.054	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,29:92:99:.:.:177,0,1118	1	0	11	9
chr5	135825729	135825729	C	A	exonic	LOC107986453	.	stopgain	LOC107986453:NM_001365196:exon3:c.C485A:p.S162X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.358e-06	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	986.23	99	chr5	135825729	.	C	A,T	986.23	.	AC=2,5;AF=0.091,0.227;AN=22;BaseQRankSum=0.457;DP=99;ExcessHet=0.0678;FS=1.884;InbreedingCoeff=0.1957;MLEAC=2,9;MLEAF=0.091,0.409;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.282e+00;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,1,0:1:3:1|1:135825729_C_A:42,3,0,42,3,42:135825729	6	1	0	10
chr5	135825740	135825740	C	T	exonic	LOC107986453	.	nonsynonymous SNV	LOC107986453:NM_001365196:exon3:c.C496T:p.P166S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	0	1.314e-05	1.313e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	57.1	95	chr5	135825740	.	C	T	57.1	.	AC=2;AF=0.083;AN=24;DP=95;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3593;MLEAC=2;MLEAF=0.083;MQ=60.00;QD=28.55;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:135825729_C_A:70,6,0:135825729	11	1	0	9
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.001	B	0.001	N	1.000	D	0.55	N	0.11	T	-1.063	T	0.090	T	0.078	1.522	11.04	3.57	0.639	1.033	2.629	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	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	422.21	35	chr5	138386226	.	G	A	422.21	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-5.135e+00;DP=1615;ExcessHet=0.6776;FS=178.999;InbreedingCoeff=-0.1235;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=1.56;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,35:138:99:.:.:250,0,2577	16	0	4	1
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.106	B	0.102	B	0.001	N	0.755	D	0.35	N	1.58	T	-1.019	T	0.045	T	0.06	3.188	16.67	5.29	2.473	2.054	10.020	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	1317.98	74	chr5	139887481	.	C	T	1317.98	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-4.144e+00;DP=2291;ExcessHet=6.1002;FS=235.435;InbreedingCoeff=-0.3991;MLEAC=11;MLEAF=0.324;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.733;SOR=11.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,10:100:99:.:.:113,0,2851	7	0	10	4
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.928	P	0.653	P	0.001	D	0.844	D	1.37	L	-0.42	T	-0.572	T	0.250	T	0.143	3.573	18.21	1.49	-0.008	0.043	8.579	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1380.18	70	chr5	139887483	.	C	G,T	1380.18	.	AC=7,3;AF=0.184,0.079;AN=38;BaseQRankSum=-4.039e+00;DP=2146;ExcessHet=6.1002;FS=245.753;InbreedingCoeff=-0.3923;MLEAC=8,3;MLEAF=0.211,0.079;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.802;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,10,3:100:99:.:.:113,0,2851,177,2815,3067	9	0	7	2
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,33,0:179:99:0|1:141303079_C_G:306,0,5557,742,5650,6392:141303079	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,33,0:179:99:0|1:141303079_C_G:306,0,5557,742,5650,6392:141303079	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,33:183:99:0|1:141303079_C_G:294,0,5662:141303079	1	0	20	0
chr5	141303084	141303084	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G782C:p.G261A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	4.43	H	-4.47	D	1.048	D	0.970	D	0.855	3.907	19.87	3.79	2.429	6.932	13.958	0.880	0.145261718238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.3e-05	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	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.13	0.97473	H	-4.47	0.97583	D	-5.86	0.88561	D	0.888	0.88687	1.048	0.98081	D	0.970	0.99037	D	10	0.9643136	0.95886	D	0.145262	0.82746	D	0.880	0.96465	0.775	0.90080	0.989331672716	0.98921	0.7175579973313387	0.71698	0.765059685441	0.64454	0.534335315228	0.43644	T	0.623532	0.88235	D	0.483847	0.93828	D	0.457236	0.93750	D	0.999319076538086	0.96929	D	0.951205	0.81406	D	0.959312	0.97210	0.94452107	0.98060	0.959312	0.97210	0.94452107	0.98060	-13.57	0.91575	D	.	.	0.810	0.77750	P	.	.	4.845771	0.79160	27.0	0.99804682888810325	0.88906	0.99259	0.93576	D	AEFDBI	0.794403	0.72212	D	0.962105787118078	0.94454	12.77026	0.798465946664251	0.89688	10.07864	0.999919411962109	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	3.79	0.42757	5.501000	0.66665	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	13.958	0.63673	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	240.98	150	chr5	141303084	.	C	G	240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.198e+00;DP=2931;ExcessHet=0.0000;FS=133.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.22;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,32:182:99:0|1:141303079_C_G:255,0,5657:141303079	20	0	1	0
chr5	141303085	141303085	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G781C:p.G261R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	4.085	H	-4.47	D	1.064	D	0.966	D	0.924	3.966	20.3	3.79	2.429	6.932	13.958	0.945	0.119171460993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.05	0.97045	H	-4.47	0.97583	D	-7.81	0.95950	D	0.92	0.92317	1.064	0.98437	D	0.966	0.98903	D	10	0.9785469	0.97736	D	0.119171	0.79941	D	0.945	0.98886	0.826	0.93721	0.991982707548	0.99189	0.6984871802548264	0.69789	0.807526858809	0.66562	0.601562201977	0.53125	T	0.596879	0.87022	D	0.541534	0.95488	D	0.540099	0.95420	D	0.999754726886749	0.98831	D	0.959904	0.84889	D	0.9499764	0.96263	0.94546807	0.98120	0.9499764	0.96263	0.94546807	0.98120	-7.658	0.58715	D	.	.	0.854	0.79970	P	.	.	4.753978	0.76787	26.6	0.99923634956981966	0.98917	0.99259	0.93576	D	AEFDBI	0.837950	0.75552	D	0.9285539849548	0.93086	11.81309	0.779445182361551	0.88330	9.541768	0.999919411962109	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	3.79	0.42757	5.501000	0.66665	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	13.958	0.63673	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	293.82	150	chr5	141303085	.	C	G	293.82	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.791e+00;DP=2886;ExcessHet=0.0000;FS=233.989;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=2.22;SOR=6.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,31:173:99:.:.:279,0,5518	19	0	1	1
chr5	149259544	149259544	A	G	splicing	ABLIM3	NM_001301028:exon19:c.1606-2A>G	.	.	.	.	423	1063	33	3	0	39	0.0180139	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-1.171	0.089	-8.31	-1.449	-2.826	2.437	.	.	.	0.00479233	0.0129	0	0.0160	0	0.0006	0.0052	0.0055	0.0210	0.0016494	255	154602	rs534581717	0.0032	0.0031	0.0026	0.0039	0.0233	0.0032	0.0031	0.0224	0.0221	0.0002	0.0030	0.0096	2.798e-05	0.0005	0.0074	0.0018	0.0044	0.0233	0.0023	0.0023	0.0020	0.0027	0.0214	0.0021	0.0020	0.0180	0.0168	0.0002	0	0.0025	0.0072	0	9.418e-05	0.0068	0.0024	0.0057	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.840044	0.00003	T	-0.962521	0.00225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.095399	0.03670	0.738	0.27858813484829209	0.01403	0.00144	0.00877	N	AEFBI	.	.	.	-1.47130147512055	0.02055	0.09032965	-1.69724869164619	0.01149	0.05170863	0.999982787927218	0.51787	0.218109	0.04136	0	0.059962	0.00310	0	0.078618	0.02440	0	0.357269	0.05819	0	0.103113	0.22672	4.67	-8.31	0.00877	-2.807000	0.00827	-0.339000	0.09830	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3957:0.2122:0.2942:0.098	2.437	0.04212	862	0.33134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1609.11	34	chr5	149259544	.	A	G	1609.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.595e+00;DP=854;ExcessHet=0.1072;FS=2.080;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=1.38;SOR=0.820	GT:AD:DP:GQ:PL	0/1:31,41:72:99:910,0,738	19	0	2	0
chr5	150077326	150077326	G	A	exonic	CSF1R	.	nonsynonymous SNV	CSF1R:NM_001288705:exon5:c.C839T:p.A280V	Leukoencephalopathy, diffuse hereditary, with spheroids, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.989	D	0.000	D	0.997	N	1.905	M	2.4	T	-1.126	T	0.086	T	0.576	3.590	18.28	3.28	2.333	1.638	9.26	0.178	0.0189260752193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.024	0.63109	D	1.0	0.90584	D	0.964	0.71005	D	0.000167	0.48594	D	0.000000	0.997346	0.22819	N	2.685	0.78553	M	2.4	0.15608	T	-3.15	0.67014	D	0.394	0.55972	-1.1257	0.01999	T	0.086	0.33550	T	10	0.6137899	0.67591	D	0.018926	0.41149	T	0.178	0.44724	0.586	0.71371	0.650377387996	0.64747	0.9036322149995595	0.90336	0.312932419214	0.33594	0.422921448946	0.28239	T	0.284393	0.65717	T	-0.088068	0.38394	T	-0.36428	0.37557	T	0.899274826049805	0.55154	D	0.858914	0.55137	D	0.7253823	0.79462	0.65187675	0.79628	0.7253823	0.79464	0.65187675	0.79629	-5.096	0.45554	T	0.3020317309802914	0.39944	0.308	0.57261	B	.;.	.;.	3.165623	0.42909	21.6	0.9989697654542169	0.96971	0.17211	0.19738	N	AEFDBI	0.219944	0.34476	N	0.174922923656101	0.49998	3.194113	0.0371410617015004	0.41453	2.490758	0.994660319214681	0.33742	0.446893	0.09132	0	0.547309	0.14657	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.25	3.28	0.36691	1.664000	0.37055	6.031000	0.52920	0.676000	0.76740	0.467000	0.26699	1.000000	0.68203	0.011000	0.09372	0.0:0.2212:0.7788:0.0	9.26	0.36766	548	0.72362	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2881.98	34	chr5	150077326	.	G	A	2881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.056e+00;DP=970;ExcessHet=0.0000;FS=1.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.09;SOR=0.611	GT:AD:DP:GQ:PL	0/1:87,123:210:99:2896,0,2068	20	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:80,39:127:99:227,0,1529	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,542:542:99:.:.:24210,24210,24211,1630,1631,0	0	12	1	0
chr5	160620521	160620521	C	A	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon14:c.G2242T:p.V748L	.	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.997	D	0.000	D	1.000	D	0.82	L	-0.26	T	-0.532	T	0.277	T	0.686	4.829	27.4	5.36	2.523	5.950	18.115	0.331	0.0250136582651	0.0003	0.000599042	0.0007	0.0001	0.0002	0	0.0002	0.0011	0.0011	0.0005	0.0007568	117	154602	rs192890224	0.0007	0.0007	0.0006	0.0008	0.0042	0.0007	0.0006	0.0029	0.0024	0.0001	0.0003	0.0036	0	0.0002	0.0042	0.0007	0.0007	0.0007	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	9.618e-05	0	0.0007	0.0035	0	0	0	0.0010	0	0	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.445	0.36358	L	-0.26	0.67187	T	-2.64	0.56630	D	0.598	0.61680	-0.5322	0.67458	T	0.277	0.64875	T	9	0.0288966	0.01019	T	0.025014	0.48002	D	0.331	0.65325	0.566	0.68768	0.776501030229	0.77444	0.5752684807764484	0.57455	0.442441332991	0.44207	0.523829996586	0.42166	T	0.184188	0.53677	T	-0.189012	0.22402	T	-0.0848126	0.64550	T	0.22239151597023	0.21582	T	0.920608	0.71304	D	0.5196766	0.68241	0.43318775	0.66880	0.5196766	0.68242	0.43318775	0.66880	-6.663	0.51531	T	.	.	0.579	0.68002	P	.;.;.	.;.;.	4.465117	0.69523	25.4	0.9981944579503349	0.90238	0.97741	0.76797	D	AEFI	0.850860	0.76771	D	0.581967081879667	0.72050	5.745071	0.615924253461325	0.76095	6.428492	0.999133064222995	0.38535	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	6.083000	0.70975	7.630000	0.62690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.115	0.89479	865	0.32612	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1146.98	41	chr5	160620521	.	C	A	1146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=851;ExcessHet=0.0000;FS=5.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.56;ReadPosRankSum=1.25;SOR=0.512	GT:AD:DP:GQ:PL	0/1:88,46:134:99:1161,0,2530	20	0	1	0
chr5	170909677	170909677	C	G	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon6:c.C506G:p.P169R,	.	.	.	.	.	.	.	.	.	.	.	2825564	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.964	D	0.573	P	0.003	N	0.998	D	1.83	L	-0.22	T	-0.493	T	0.316	T	0.649	4.156	21.5	5.36	2.676	6.412	17.230	0.243	0.0195595117723	0.0014	0.00139776	0.0010	0.0002	0.0009	0	0.0008	0.0015	0	0.0005	0.001009	156	154602	rs139178386	0.0013	0.0013	0.0013	0.0013	0.0015	0.0013	0.0012	0.0014	0.0014	0.0004	0.0014	0.0014	0	0.0006	0.0007	0.0015	0.0010	0.0004	0.0009	0.0009	0.0009	0.0009	0.0020	0.0008	0.0007	0.0014	0.0012	0.0001	0	0.0020	0.0015	0	0.0005	0	0.0013	0.0015	0.0002	0.005	0.63226	D	0.017	0.60337	D	0.964	0.55854	D	0.573	0.49966	P	0.002856	0.35836	N	0.199870	0.998293	0.44734	D	1.935	0.51832	L	-0.22	0.66474	T	-3.29	0.65742	D	0.733	0.73375	-0.4928	0.68909	T	0.316	0.68611	T	10	0.11552614	0.21767	T	0.01956	0.41954	T	0.243	0.54921	.	.	0.826373365844	0.82472	0.2573738587702747	0.25651	0.0782145705475	0.08799	0.477635145187	0.35731	T	0.068847	0.33560	T	-0.204735	0.20126	T	-0.0969432	0.63633	T	0.0811323449015617	0.10132	T	0.872413	0.57909	D	0.2731005	0.50378	0.22266342	0.47118	0.2731005	0.50378	0.22266342	0.47117	-10.196	0.75076	D	.	.	0.732	0.74270	P	.	.	4.655188	0.74246	26.1	0.9953604953727736	0.70212	0.99311	0.94324	D	AEFBI	0.723771	0.67328	D	0.511614304102921	0.67774	5.126925	0.575778554350125	0.73207	5.933004	0.999971775491391	0.50053	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	6.744000	0.74653	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.230	0.86864	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1016.98	41	chr5	170909677	.	C	G	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.283;SOR=0.653	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1031,0,1228	20	0	1	0
chr5	179614914	179614914	C	T	exonic	HNRNPH1	.	nonsynonymous SNV	HNRNPH1:NM_001364230:exon12:c.G1286A:p.R429H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	0.015	N	1.000	D	.	.	2.88	T	-1.190	T	0.083	T	0.406	2.756	15.18	5.91	2.794	4.442	20.290	0.108	0.0163674812495	.	.	0.0004	0	0	0	0	0	0	0.0008	3.88e-05	6	154602	rs750283108	6.295e-05	6.088e-05	5.082e-05	7.542e-05	0.0009	5.188e-05	4.838e-05	0.0008	0.0007	9.497e-05	2.801e-05	0	0	0	0.0002	5.562e-06	5.174e-05	0.0009	3.284e-05	3.281e-05	2.571e-05	4.03e-05	0.0004	1.26e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.069	0.35537	T	0.54	0.09760	T	.	.	.	.	.	.	0.015348	0.28271	N	0.418719	0.999975	0.81001	D	.	.	.	2.88	0.10291	T	0.25	0.04456	N	0.178	0.19190	-1.1895	0.00247	T	0.083	0.32527	T	7	0.08170688	0.13404	T	0.016367	0.37594	T	0.108	0.30607	0.388	0.40951	0.455950981622	0.45219	.	.	.	.	.	.	.	.	.	.	-0.401997	0.02247	T	-0.439372	0.28879	T	0.101138058045865	0.12482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.44630	B	.	.	1.891280	0.24020	16.24	0.9977186941090429	0.86003	0.96564	0.69771	D	AEFDBHCI	0.829457	0.74836	D	0.453917290521913	0.64426	4.696847	0.547936030148914	0.71255	5.626867	0.999999999999255	0.74766	0.645754	0.44609	0	0.697927	0.68747	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.91	5.91	0.95240	4.512000	0.60187	2.254000	0.31710	0.599000	0.40250	1.000000	0.71638	0.991000	0.31484	0.985000	0.61073	0.0:1.0:0.0:0.0	20.290	0.98543	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1884.98	35	chr5	179614914	.	C	T	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=963;ExcessHet=0.0000;FS=1.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=-1.361e+00;SOR=0.844	GT:AD:DP:GQ:PL	0/1:95,85:180:99:1899,0,1944	20	0	1	0
chr5	181059404	181059404	C	T	exonic	BTNL9	.	nonsynonymous SNV	BTNL9:NM_152547:exon11:c.C1150T:p.H384Y,	.	.	427	1068	27	0	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.204	B	0.78	P	0.049	U	1.000	N	2.355	M	-0.33	T	-0.322	T	0.270	T	0.631	4.096	21.1	4.71	2.365	2.310	15.578	0.462	.	.	0.00379393	0.0091	0.0046	0	0	0	0.0074	0	0.0102	0.00174	269	154602	rs186444058	0.0093	0.0089	0.0093	0.0093	0.0104	0.0092	0.0091	0.0102	0.0102	0.0010	0.0047	0.0069	6.055e-05	0.0063	0.0077	0.0104	0.0071	0.0071	0.0066	0.0066	0.0069	0.0062	0.0102	0.0062	0.0061	0.0095	0.0093	0.0016	0.0033	0.0062	0.0072	0.0002	0.0073	0.0068	0.0102	0.0052	0.0056	0.0	0.91255	D	0.0	0.92824	D	0.204	0.29802	B	0.78	0.57283	P	0.049449	0.23159	U	0.217602	0.804617	0.29074	N	2.155	0.60227	M	-0.33	0.68329	T	-4.77	0.80425	D	0.491	0.52475	-0.3221	0.74363	T	0.270	0.64204	T	10	0.011678845	0.00254	T	.	.	.	0.462	0.75889	.	.	0.786551924775	0.78457	0.5107423983958618	0.50996	0.984627870661	0.73861	0.872152686119	0.92875	D	0.224	0.58830	T	-0.26595	0.12213	T	-0.146833	0.59525	T	0.0459653985849032	0.04777	T	0.925307	0.72522	D	0.790044	0.83275	0.8463283	0.91258	0.790044	0.83277	0.8463283	0.91259	-9.251	0.69299	D	.	.	0.138	0.30184	B	.	.	3.493665	0.48848	22.7	0.99665024118694867	0.78202	0.68061	0.33661	D	AEFDBHI	0.443193	0.50061	N	0.200396882495283	0.51219	3.304896	0.213521098429424	0.50598	3.250084	0.999999630721595	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.71	4.71	0.59010	1.138000	0.31103	4.644000	0.44168	0.454000	0.21428	0.314000	0.25450	1.000000	0.68203	0.931000	0.46843	0.0:1.0:0.0:0.0	15.578	0.76153	.	.	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	rs186444058	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1917.11	48	chr5	181059404	.	C	T	1917.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.98;DP=1094;ExcessHet=0.1072;FS=3.721;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-5.850e-01;SOR=0.731	GT:AD:DP:GQ:PL	0/1:33,30:63:99:883,0,739	19	0	2	0
chr6	7585844	7585844	C	-	exonic	DSP	.	frameshift deletion	DSP:NM_001008844:exon24:c.6785delC:p.Y2263Tfs*21	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	635307	Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8	MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.52e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs765683790	4.105e-06	4.104e-06	2.723e-06	5.501e-06	4.639e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	1.656e-05	4.639e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5017.94	45	chr6	7585843	.	TC	T	5017.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.191e+00;DP=1713;ExcessHet=0.0000;FS=8.016;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.201;SOR=0.428	GT:AD:DP:GQ:PL	0/1:190,164:354:99:5032,0,5991	20	0	1	0
chr6	26188767	26188767	A	C	exonic	H4C4	.	stoploss	H4C4:NM_003539:exon1:c.T310G:p.X104G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.784	11.92	5.32	2.017	8.784	14.458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.185	0.20129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0513206	0.44248	T	-0.311495	0.43497	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.539477	0.19741	14.42	0.79942243482908859	0.12972	0.99331	0.94604	D	ALL	.	.	.	0.988777812975529	0.95389	13.57317	0.783309440780383	0.88609	9.647005	1.0	0.98316	0.046548	0.00263	1	0.073863	0.01883	0	0.03606	0.00165	1	0.088244	0.02422	0	0.946997	0.61222	5.32	5.32	0.75377	8.774000	0.91408	10.054000	0.83194	0.750000	0.87069	1.000000	0.71638	0.994000	0.32194	0.033000	0.13494	1.0:0.0:0.0:0.0	14.458	0.67005	675	0.60470	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	162.0	34	chr6	26188767	.	A	C	162.0	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-2.939e+00;DP=2184;ExcessHet=0.0000;FS=186.849;InbreedingCoeff=-0.1464;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=0.957;SOR=6.932	GT:AD:DP:GQ:PL	0/1:128,31:159:99:172,0,2932	12	0	1	8
chr6	28300900	28300900	G	A	exonic	PGBD1	.	nonsynonymous SNV	PGBD1:NM_001184743:exon7:c.G1046A:p.R349Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.82	P	0.109	B	0.329	N	0.738	N	0.695	N	4.78	T	-0.834	T	0.001	T	0.431	3.518	17.97	3.67	1.262	1.541	8.409	0.081	0.00993119052319	.	.	8.251e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs761161062	1.095e-05	1.094e-05	9.529e-06	1.238e-05	6.956e-05	6.48e-06	5.24e-06	2.995e-05	2.038e-05	0	0	0	2.519e-05	0	0	8.094e-06	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.088	0.40586	T	0.82	0.45712	P	0.109	0.31370	B	0.329011	0.14145	N	0.527834	0.738206	0.29761	N	2.43	0.70455	M	4.78	0.01551	T	-0.18	0.09796	N	0.376	0.41754	-0.8336	0.53068	T	0.001	0.00467	T	10	0.19606322	0.35483	T	0.009931	0.25856	T	0.081	0.23632	0.304	0.27325	0.282575091529	0.27877	0.2188553802591615	0.21801	.	.	0.483104348183	0.36484	T	0.00719	0.06605	T	-0.136109	0.30513	T	-0.433287	0.29563	T	0.672287225723267	0.39440	D	0.827217	0.49094	T	0.050953947	0.09284	0.06349461	0.12585	0.050953947	0.09284	0.06349461	0.12585	-3.413	0.15232	T	.	.	0.160	0.35456	B	.	.	3.358990	0.46366	22.3	0.99953766010085221	0.99963	0.56753	0.30198	D	AEFDBHI	0.072521	0.14475	N	-0.0526057097821846	0.39485	2.329318	0.0355588061399994	0.41378	2.48499	0.92491059707496	0.26796	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.54	3.67	0.41236	1.560000	0.35939	3.081000	0.36240	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.998000	0.85391	0.1067:0.0:0.8933:0.0	8.409	0.31795	527	0.73864	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2028.98	35	chr6	28300900	.	G	A	2028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-02;DP=1379;ExcessHet=0.0000;FS=3.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.03;ReadPosRankSum=0.629;SOR=0.955	GT:AD:DP:GQ:PL	0/1:60,75:135:99:2043,0,1552	20	0	1	0
chr6	29173645	29173645	A	T	exonic	OR2J2	.	stopgain	OR2J2:NM_030905:exon1:c.A10T:p.K4X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.298	13.64	-1.47	-0.521	-0.847	3.940	.	.	0.0002	.	7.122e-05	0	0	0	0	7.74e-05	0	0.0003	6.47e-05	10	154602	rs201438710	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.783e-05	0.0001	0.0001	0.0001	2.456e-05	4.055e-05	2.529e-05	0	0	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.834e-05	0.0001	0.0001	0.0003	0	6.602e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.303276	0.08355	T	-0.319378	0.42642	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	4.384543	0.67615	25.1	0.88336091210123224	0.17896	0.00698	0.02970	N	AEBI	0.019631	0.00699	N	-0.573936991143795	0.19739	1.03545	-0.98230374765578	0.10183	0.5112421	2.2074497366645E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	-1.47	0.08312	-0.265000	0.08671	.	.	-0.622000	0.04550	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.4118:0.179:0.4092:0.0	3.940	0.08820	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1677.98	60	chr6	29173645	.	A	T	1677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=930;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-1.320e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1692,0,1925	20	0	1	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11446.09	83	chr6	29942948	.	C	G,*	11446.09	.	AC=7,5;AF=0.167,0.119;AN=42;BaseQRankSum=2.18;DP=2279;ExcessHet=3.2961;FS=4.407;InbreedingCoeff=-0.1632;MLEAC=7,5;MLEAF=0.167,0.119;MQ=58.86;MQRankSum=-2.836e+00;QD=8.92;ReadPosRankSum=-1.240e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,36,23:126:99:.:.:1307,0,2705,544,1848,3290	10	1	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,27,16:94:99:.:.:980,0,2060,456,1470,2547	3	4	8	2
chr6	30168369	30168369	C	A	exonic	TRIM15	.	nonsynonymous SNV	TRIM15:NM_033229:exon3:c.C547A:p.Q183K,	.	.	.	.	.	.	.	.	.	.	.	3340603	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.751	P	0.309	B	0.000	D	1.000	N	1.78	L	-0.74	T	-1.018	T	0.062	T	0.183	2.061	12.85	4.15	0.848	-0.034	6.577	0.080	0.0349076865907	.	.	4.339e-05	0	0.0002	0	0	4.771e-05	0	0	3.88e-05	6	154602	rs780356510	2.875e-05	2.873e-05	3.406e-05	2.339e-05	4.472e-05	2.153e-05	1.909e-05	2.54e-05	2.224e-05	0	4.472e-05	0	0	0	0	3.417e-05	3.312e-05	0	3.286e-05	3.284e-05	1.285e-05	5.381e-05	4.827e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.827e-05	0	0	0	0	0	0	4.41e-05	0	0	0.032	0.44694	D	0.037	0.51737	D	0.751	0.43285	P	0.309	0.41361	B	0.000068	0.52346	D	0.000000	1	0.20930	N	2.455	0.71248	M	-0.74	0.73205	T	-2.8	0.59226	D	0.119	0.10911	-1.0175	0.24528	T	0.062	0.25851	T	10	0.15079594	0.28514	T	0.034908	0.55992	D	0.191	0.46948	.	.	0.737640060157	0.73529	0.21066110522521797	0.20982	0.894154381821	0.70357	0.35856872797	0.19176	T	0.055576	0.30045	T	-0.216607	0.18458	T	-0.373071	0.36531	T	0.320901364088058	0.25858	T	.	.	.	0.12217722	0.28715	0.1983845	0.43669	0.12217722	0.28715	0.1983845	0.43668	-7.754	0.59382	D	.	.	0.134	0.29088	B	.;.	.;.	1.946759	0.24726	16.50	0.97091859237323674	0.32328	0.04582	0.10231	N	AEFBI	0.127806	0.24532	N	-0.34426597781024	0.27483	1.508225	-0.437132820713564	0.23916	1.307	0.555186132653213	0.21368	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.92	4.15	0.47978	0.057000	0.14157	.	.	0.589000	0.31548	0.004000	0.16614	0.609000	0.25758	0.128000	0.19490	0.0:0.6948:0.1472:0.1581	6.577	0.21771	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2214.98	35	chr6	30168369	.	C	A	2214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.135e+00;DP=851;ExcessHet=0.0000;FS=2.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=0.148;SOR=0.954	GT:AD:DP:GQ:PL	0/1:68,84:152:99:2229,0,1673	20	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8675.72	395	chr6	31026275	.	A	T,*	8675.72	.	AC=1,8;AF=0.024,0.190;AN=42;BaseQRankSum=-4.499e+00;DP=9847;ExcessHet=0.9430;FS=5.229;InbreedingCoeff=0.0101;MLEAC=1,8;MLEAF=0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=2.13;ReadPosRankSum=0.273;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:293,342,0:635:99:.:.:8689,0,8058,9568,9083,18651	13	0	1	0
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,115,0:248:99:.:.:2750,0,3311,3150,3657,6806	4	3	9	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M	.	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.028	B	0.035	B	.	.	1.000	P	2.105	M	5.37	T	-0.965	T	0.002	T	0.376	-0.110	3.463	-1.63	-0.380	0.547	3.715	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	24199.8	109	chr6	31270002	.	C	T	24199.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-8.100e-01;DP=3021;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=59.14;MQRankSum=-1.400e-01;QD=18.73;ReadPosRankSum=-1.480e-01;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,66:124:99:.:.:2555,0,2196	12	1	8	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,104,0:104:99:.:.:3663,312,0,3663,312,3663	0	13	5	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I	.	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.005	B	0.002	U	1.000	P	3.3	M	4.31	T	-1.111	T	0.009	T	0.422	-0.903	0.431	2.67	1.821	0.868	9.019	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	10478.8	66	chr6	31270250	.	C	A	10478.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.683;DP=1987;ExcessHet=1.5138;FS=6.263;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=51.19;MQRankSum=-1.731e+00;QD=13.25;ReadPosRankSum=-1.916e+00;SOR=1.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,20:62:99:0|1:31270188_G_C:625,0,1645:31270188	12	1	8	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,93,0,0:105:99:.:.:3752,0,204,3788,484,4271,3788,484,4271,4271	0	0	16	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	17754.15	108	chr6	31271337	.	G	T,*	17754.15	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-1.740e-01;DP=1928;ExcessHet=2.0984;FS=6.544;InbreedingCoeff=-0.0716;MLEAC=13,1;MLEAF=0.310,0.024;MQ=56.58;MQRankSum=-3.890e+00;QD=13.85;ReadPosRankSum=-1.971e+00;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,27,0:91:99:.:.:934,0,2606,1126,2687,3814	9	2	9	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G,	.	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.017	N	0.986	N	-3.21	N	4.34	T	-1.015	T	0.000	T	0.312	0.549	6.971	1.33	0.182	0.951	7.857	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	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	0.2381	3496.72	194	chr6	31355425	.	T	C	3496.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.611;DP=3822;ExcessHet=6.1002;FS=21.379;InbreedingCoeff=-0.3069;MLEAC=10;MLEAF=0.238;MQ=58.03;MQRankSum=-1.346e+01;QD=1.73;ReadPosRankSum=-2.710e-01;SOR=1.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:191,21:212:81:.:.:81,0,6061	11	0	10	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,73,0:73:99:1|1:31356168_A_C:3244,220,0,3244,220,3244:31356168	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,32,0:132:99:.:.:920,0,3366,1220,3462,4682	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,16:16:48:1|1:31356407_C_G:720,720,720,48,48,0:31356407	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,21,0:71:99:0|1:31356711_C_CGG:731,0,2036,882,2099,2981:31356711	9	1	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6123.37	83	chr6	31356717	.	AGGT	A,*	6123.37	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=1.37;DP=1099;ExcessHet=0.3152;FS=5.478;InbreedingCoeff=0.1923;MLEAC=7,9;MLEAF=0.167,0.214;MQ=53.41;MQRankSum=-6.729e+00;QD=7.95;ReadPosRankSum=0.357;SOR=1.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:50,0,21:71:99:0|1:31356711_C_CGG:731,882,2981,0,2099,2036:31356711	9	1	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8459.57	86	chr6	31356719	.	GT	G,*	8459.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=1.98;DP=1112;ExcessHet=0.3152;FS=5.449;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.97;MQRankSum=-6.719e+00;QD=10.80;ReadPosRankSum=-1.130e-01;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,22,0:72:99:0|1:31356711_C_CGG:773,0,2033,924,2099,3023:31356711	9	1	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,97,0:97:99:1|1:31356739_C_A:4304,292,0,4304,292,4304:31356739	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,172:172:99:1|1:31356809_C_T:7653,7653,7653,518,518,0:31356809	0	5	0	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5842.28	59	chr6	31412383	.	TG	T,*	5842.28	.	AC=6,7;AF=0.143,0.167;AN=42;BaseQRankSum=-1.010e+00;DP=1486;ExcessHet=1.3217;FS=1.215;InbreedingCoeff=-0.0027;MLEAC=6,7;MLEAF=0.143,0.167;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.114e+00;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,26,0:48:99:.:.:803,0,676,869,755,1624	10	0	5	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:22,0,26,0:48:99:.:.:803,869,1624,0,755,676,869,1624,755,1624	2	2	2	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.637	P	0.000	D	0.995	D	1.495	L	4.53	T	-0.837	T	0.008	T	0.68	1.237	10.02	5.06	2.122	3.154	13.917	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9616.67	116	chr6	31625601	.	T	C	9616.67	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-3.022e+00;DP=2814;ExcessHet=36.0830;FS=243.392;InbreedingCoeff=-0.8806;MLEAC=20;MLEAF=0.526;MQ=59.99;MQRankSum=0.00;QD=3.79;ReadPosRankSum=1.23;SOR=12.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,31:129:99:0|1:31625601_T_C:419,0,3257:31625601	0	0	19	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.651	14.83	5.06	2.628	4.365	17.348	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,31,0:129:99:0|1:31625601_T_C:419,0,3257,712,3348,4060:31625601	0	0	18	2
chr6	31625602	31625602	G	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.530	14.42	5.06	2.628	4.365	17.348	0.179	0.0240778972107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.999345	0.46733	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	0.2299856	0.39939	T	0.024078	0.47063	T	0.179	0.44899	0.192	0.10304	0.187035705434	0.18338	0.40434127179304075	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.0346369	0.46741	T	-0.28753	0.46029	T	0.797656714916229	0.46194	D	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	.;.	.;.	4.164074	0.62562	24.5	0.98851704410504837	0.47305	0.96934	0.71741	D	AEFDBCI	0.644900	0.62099	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,31,0:129:99:0|1:31625601_T_C:419,0,3257,712,3348,4060:31625601	0	0	18	2
chr6	31640686	31640686	T	C	exonic	BAG6	.	nonsynonymous SNV	BAG6:NM_001098534:exon21:c.A2845G:p.M949V	.	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.902	P	0.517	P	0.077	N	0.999	N	0.69	N	1.57	T	-1.093	T	0.039	T	0.525	0.638	7.427	5.26	2.222	2.284	11.537	0.137	0.00913034085004	0.0002	0.00139776	0.0005	0.0006	0.0008	0.0013	0.0002	0.0003	0	0.0006	0.0004463	69	154602	rs150422210	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0013	0.0012	0.0006	0.0008	0.0007	0.0016	9.558e-05	0.0003	0.0002	0.0006	0.0006	0.0005	0.0005	0.0006	0.0005	0.0048	0.0004	0.0004	0.0034	0.0029	0.0003	0	0.0014	0.0003	0.0048	0	0	0.0002	0.0028	0.0002	0.293	0.16628	T	0.135	0.39040	T	0.902	0.49745	P	0.517	0.48105	P	0.076917	0.21135	N	0.564841	0.999379	0.21979	N	1.245	0.31408	L	1.57	0.43279	T	-0.73	0.36189	N	0.377	0.45709	-1.0932	0.05020	T	0.039	0.16677	T	10	0.008490026	0.00192	T	0.00913	0.24012	T	0.137	0.36984	.	.	0.547570583021	0.54413	0.5611048341205912	0.56037	0.389099320883	0.40161	0.611800551414	0.54571	T	0.108229	0.42109	T	-0.423034	0.01636	T	-0.37962	0.35766	T	0.0177761884744083	0.00506	T	.	.	.	0.19228052	0.40892	0.24716185	0.50240	0.19228052	0.40891	0.24716185	0.50239	-4.335	0.28664	T	.	.	0.072	0.12371	B	.;.;.;.;.	.;.;.;.;.	3.492200	0.48818	22.7	0.88291342094122127	0.17862	0.78982	0.39054	D	AEFBI	0.166387	0.29296	N	0.0913988499678211	0.46062	2.852482	0.202568729002262	0.49989	3.195793	0.980450315052652	0.30138	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	3.733000	0.54753	.	.	0.653000	0.53440	0.996000	0.39380	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.537	0.49896	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1701.98	34	chr6	31640686	.	T	C	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.388;DP=913;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-5.420e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/1:99,71:170:99:1716,0,2578	20	0	1	0
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.51	P	0.147	B	0.011	N	1.000	N	0.05	N	0.6	T	-0.940	T	0.022	T	0.141	-0.852	0.544	0.376	-0.076	0.061	7.727	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	746.15	34	chr6	32084509	.	T	C	746.15	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.746e+00;DP=1306;ExcessHet=0.6776;FS=128.029;InbreedingCoeff=-0.1093;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.37;ReadPosRankSum=1.75;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,22:142:58:0|1:32084509_T_C:58,0,4693:32084509	17	0	4	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/3:0,0,10,16,0:26:99:1089,1092,1111,671,694,683,417,420,0,369,1092,1111,694,420,1111	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/3:0,0,10,16,0:26:99:1089,1092,1111,671,694,683,417,420,0,369,1092,1111,694,420,1111	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	2/3:0,0,10,16,0:26:99:1089,1092,1111,671,694,683,417,420,0,369,1092,1111,694,420,1111	0	1	4	0
chr6	32405014	32405014	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon2:c.G352A:p.D118N,	.	.	421	1020	78	3	0	84	0.039548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.17	B	0.058	B	0.000	D	1.000	N	3.315	M	-2.3	D	-0.091	T	0.592	D	0.36	2.009	12.67	4.91	2.755	4.749	16.143	0.474	.	0.0062	0.00439297	0.0111	0.0009	0.0104	0.0005	0.0005	0.0154	0.0206	0.0100	0.0101034	1562	154602	rs143211074	0.0082	0.0082	0.0077	0.0087	0.0579	0.0081	0.0080	0.0528	0.0508	0.0010	0.0129	0.1297	0.0002	0.0003	0.0579	0.0051	0.0175	0.0105	0.0095	0.0095	0.0091	0.0100	0.0184	0.0091	0.0090	0.0166	0.0159	0.0010	0.0351	0.0184	0.1454	0.0015	0.0005	0.0374	0.0069	0.0213	0.0101	0.018	0.50676	D	0.005	0.72224	D	0.17	0.28703	B	0.058	0.26451	B	0.000214	0.47681	D	0.000000	1	0.81001	D	3.75	0.95014	H	-2.3	0.87671	D	-3.92	0.73151	D	0.804	0.79986	-0.0913	0.80298	T	0.592	0.85408	D	10	0.0039207637	0.00075	T	.	.	.	0.474	0.76685	.	.	.	.	0.6442538995369435	0.64360	0.759485905604	0.64176	0.556377768517	0.46756	T	0.125532	0.45130	T	-0.236106	0.15849	T	-0.0983005	0.63528	T	0.0876847104608261	0.10940	T	.	.	.	0.47867396	0.65820	0.461523	0.68731	0.47867396	0.65821	0.461523	0.68731	-7.326	0.56380	T	.	.	0.168	0.37005	B	.;.	.;.	3.349719	0.46200	22.3	0.99564600918578816	0.72014	0.81899	0.41213	D	AEFDBI	0.519369	0.54468	D	0.0408323083134688	0.43721	2.659608	0.0114731822199794	0.40248	2.398883	0.443686818642509	0.20475	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	5.474000	0.66508	.	.	0.541000	0.25215	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	16.143	0.81356	934	0.15400	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	NOTCH4|AGER|AGER|NOTCH4|NOTCH4|AGER|AGER|AGER|HLA-DQA1|NOTCH4|AGER	Adipose_Visceral_Omentum|Artery_Aorta|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood	HLA-DQA1|HLA-DQA2	Ovary|Ovary	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	16283.53	159	chr6	32405014	.	C	T	16283.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.568;DP=1620;ExcessHet=0.2785;FS=2.492;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.822;SOR=0.539	GT:AD:DP:GQ:PL	0/1:83,88:171:99:2254,0,2062	15	1	5	0
chr6	32519649	32519649	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9579.39	39	chr6	32519649	.	C	A,*	9579.39	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=4.43;DP=516;ExcessHet=0.0001;FS=2.640;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.21;MQRankSum=4.41;QD=30.44;ReadPosRankSum=-1.495e+00;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,25,0:25:75:.:.:1125,75,0,1125,75,1125	8	5	2	5
chr6	32519650	32519650	A	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9378.63	38	chr6	32519650	.	A	G,*	9378.63	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=3.57;DP=510;ExcessHet=0.0001;FS=2.644;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.16;MQRankSum=4.36;QD=31.47;ReadPosRankSum=-1.495e+00;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25,0:25:75:1|1:32519613_T_G:1125,75,0,1125,75,1125:32519613	8	5	2	5
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	31947.07	20	chr6	32521977	.	TG	T,CG,*,TCCG	31947.07	.	AC=10,5,5,2;AF=0.238,0.119,0.119,0.048;AN=42;BaseQRankSum=2.83;DP=2813;ExcessHet=0.0007;FS=6.870;InbreedingCoeff=0.6182;MLEAC=10,5,5,2;MLEAF=0.238,0.119,0.119,0.048;MQ=49.85;MQRankSum=-1.379e+00;QD=24.07;ReadPosRankSum=-3.581e+00;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:148,0,0,0,21:169:99:0|1:32521977_T_TCC:436,882,7096,882,7096,7096,882,7096,7096,7096,0,6214,6214,6214,6151:32521977	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,23,0:169:99:0|1:32521977_T_TCC:486,0,6061,925,6131,7056:32521977	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:144,0,0,22:166:99:0|1:32521977_T_TCC:450,883,6930,883,6930,6930,0,6047,6047,5980:32521977	4	5	4	1
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	50186.86	152	chr6	32522156	.	T	A,G,*,C	50186.86	.	AC=14,6,6,1;AF=0.368,0.158,0.158,0.026;AN=38;BaseQRankSum=-2.391e+00;DP=2479;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=0.8143;MLEAC=15,7,7,1;MLEAF=0.395,0.184,0.184,0.026;MQ=47.59;MQRankSum=-1.347e+01;QD=31.15;ReadPosRankSum=3.03;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,124,37,0,0:161:99:.:.:6760,1554,1180,5172,0,5055,6745,1554,5172,6740,6745,1554,5172,6740,6740	5	1	0	2
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,80,0,0:80:99:1|1:32530184_T_G:3580,241,0,3580,241,3580,3580,241,3580,3580:32530184	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	3|3:0,0,0,77:77:99:1|1:32530184_T_G:3465,3465,3465,3465,3465,3465,232,232,232,0:32530184	0	1	0	0
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X,	.	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.838	N	1.000	A	.	.	.	.	.	.	.	.	.	2.918	15.72	0.396	0.242	-1.613	7.656	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1905	29644.93	509	chr6	32581836	.	G	C,A	29644.93	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-1.041e+00;DP=8578;ExcessHet=0.5418;FS=1.262;InbreedingCoeff=0.0735;MLEAC=5,3;MLEAF=0.119,0.071;MQ=56.50;MQRankSum=-8.926e+00;QD=8.65;ReadPosRankSum=3.57;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:454,0,73:527:99:.:.:1699,3065,22118,0,19053,18833	14	1	3	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:70,0,58,0:128:99:0|1:32584171_G_T:2201,2412,5274,0,2862,2688,2412,5274,2862,5274:32584171	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:80,0,54:134:99:0|1:32584171_G_T:2027,2267,5452,0,3185,3022:32584171	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:80,0,54:134:99:0|1:32584171_G_T:2027,2267,5452,0,3185,3022:32584171	3	0	1	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3600.15	264	chr6	32584318	.	C	*,T	3600.15	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=-8.230e-01;DP=7428;ExcessHet=4.7172;FS=0.567;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.167,0.048;MQ=53.39;MQRankSum=-4.724e+00;QD=1.58;ReadPosRankSum=1.92;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:212,29,0:266:99:.:.:580,0,8815,1218,8902,10120	12	0	7	0
chr6	32584352	32584352	C	0	exonic	HLA-DRB1	.	.	.	.	.	1	176	25	0	24	49	0.066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3438.47	189	chr6	32584352	.	C	CATGTTTAA,*	3438.47	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=3.60;DP=6521;ExcessHet=1.7912;FS=13.879;InbreedingCoeff=-0.1667;MLEAC=3,3;MLEAF=0.071,0.071;MQ=50.14;MQRankSum=-7.080e+00;QD=3.33;ReadPosRankSum=-2.932e+00;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,43,0:203:99:0|1:32584171_G_T:1324,0,6589,1806,6718,8524:32584171	15	0	3	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,159,0:201:99:0|1:32584171_G_T:6550,0,1285,6676,1764,8440:32584171	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,22,0,0:199:99:0|1:32584171_G_T:391,0,7366,924,7432,8356,924,7432,8356,8356:32584171	2	4	8	2
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,95,26:168:99:0|1:32584171_G_T:3848,0,1688,2897,882,4793:32584171	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,102,43:145:99:0|1:32584171_G_T:6268,1798,1475,4295,0,4153:32584171	2	0	3	2
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T,	.	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.049	B	0.034	B	0.131	N	1.000	N	1.61	L	8.43	T	-0.941	T	0.000	T	0.415	0.078	4.424	2.05	0.270	1.241	5.311	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	10724.01	323	chr6	32589684	.	A	G	10724.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.231e+00;DP=4752;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=49.04;MQRankSum=-7.090e-01;QD=4.29;ReadPosRankSum=0.302;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,37:207:99:.:.:1031,0,7022	12	0	9	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,34,0:220:99:0|1:32641430_C_T:868,0,7708,1428,7810,9238:32641430	4	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12919.36	215	chr6	32641445	.	A	*,T	12919.36	.	AC=14,10;AF=0.333,0.238;AN=42;BaseQRankSum=3.40;DP=4033;ExcessHet=1.2156;FS=8.537;InbreedingCoeff=0.0278;MLEAC=14,10;MLEAF=0.333,0.238;MQ=56.99;MQRankSum=-8.973e+00;QD=4.08;ReadPosRankSum=-2.307e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:190,0,35:225:99:0|1:32641430_C_T:898,1470,9448,0,7978,7873:32641430	4	2	7	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10387.93	236	chr6	32641462	.	G	A,*	10387.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=5.43;DP=4198;ExcessHet=1.2156;FS=3.431;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.72;MQRankSum=-9.839e+00;QD=3.14;ReadPosRankSum=-1.129e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,39,0:251:99:0|1:32641430_C_T:999,0,8737,1638,8854,10492:32641430	4	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10409.93	237	chr6	32641464	.	T	A,*	10409.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=3.55;DP=4202;ExcessHet=1.2156;FS=3.398;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.80;MQRankSum=-9.745e+00;QD=3.15;ReadPosRankSum=-9.480e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,41,0:253:99:0|1:32641430_C_T:1054,0,8731,1692,8854,10546:32641430	4	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25415.33	297	chr6	32641501	.	G	C,*,A	25415.33	.	AC=10,13,1;AF=0.238,0.310,0.024;AN=42;BaseQRankSum=2.16;DP=4612;ExcessHet=1.2156;FS=0.551;InbreedingCoeff=0.0278;MLEAC=10,13,1;MLEAF=0.238,0.310,0.024;MQ=58.81;MQRankSum=-6.452e+00;QD=6.79;ReadPosRankSum=1.25;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,75,0,0:306:99:0|1:32641476_G_A:2393,0,9454,3088,9679,12768,3088,9679,12768,12768:32641476	4	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V,	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.417	U	1.000	N	0.695	N	5.87	T	-0.920	T	0.000	T	0.292	-0.760	0.789	-7.95	-6.444	-13.284	0.888	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:222,0,90,0:312:99:.:.:2250,2916,9302,0,6386,6116,2916,9302,6386,9302	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:222,0,90,0:312:99:.:.:2250,2916,9302,0,6386,6116,2916,9302,6386,9302	4	0	1	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,36,28:64:99:.:.:2778,1026,878,1105,0,932	1	1	0	0
chr6	32829996	32829996	T	C	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043: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	.	.	.	.	.	.	.	.	0.29	T	0.008	B	0.03	B	0.421	N	0.991	N	-0.47	N	-2.56	D	-1.065	T	0.177	T	0.264	1.829	12.08	-4.93	-0.720	-1.036	11.115	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1459.98	41	chr6	32829996	.	T	C	1459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.669e+00;DP=1281;ExcessHet=0.0000;FS=1.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=-2.039e+00;SOR=0.547	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1474,0,1898	20	0	1	0
chr6	33443686	33443686	C	G	exonic	SYNGAP1	.	nonsynonymous SNV	SYNGAP1:NM_001130066:exon14:c.C3092G:p.A1031G	Mental retardation, autosomal dominant 5, Autosomal dominant	YES	1	1519	2	0	0	2	0.000657895	.	.	395244	Intellectual_disability,_autosomal_dominant_5|Inborn_genetic_diseases|not_provided|SYNGAP1-related_disorder	MONDO:MONDO:0012960,MedGen:C2675473,OMIM:612621|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.317	B	0.146	B	0.381	N	0.503	D	1.04	L	2.64	T	-0.981	T	0.011	T	0.168	1.643	11.45	3.19	0.906	3.032	6.907	0.024	.	.	0.00379393	0.0025	0.0001	0.0023	0.0310	0	4.607e-05	0	0	0.0021474	332	154602	rs139759084	0.0008	0.0008	0.0009	0.0008	0.0253	0.0008	0.0008	0.0240	0.0235	0	0.0026	0	0.0253	0	0.0003	9.893e-06	0.0012	9.275e-05	0.0013	0.0013	0.0011	0.0015	0.0270	0.0011	0.0011	0.0234	0.0220	0.0001	0	0.0027	0	0.0270	0	0	2.94e-05	0.0019	0	0.077	0.34269	T	0.375	0.17964	T	0.224	0.32920	B	0.066	0.33945	B	0.381211	0.13386	N	0.700444	0.502788	0.31755	D	0.895	0.22405	L	2.64	0.12780	T	-1.14	0.30762	N	0.122	0.11769	-0.9805	0.34886	T	0.011	0.04181	T	10	0.002538532	0.00038	T	.	.	.	0.024	0.04979	.	.	0.182106788282	0.17826	0.19469547739673357	0.19387	1.25117579951	0.81802	0.517065703869	0.41212	T	0.053143	0.29361	T	-0.573952	0.00210	T	-0.570759	0.15379	T	0.0121012419297249	0.00193	T	0.892111	0.62800	D	0.075084046	0.16893	0.1147146	0.27692	0.064548805	0.13705	0.114834115	0.27720	-3.246	0.14484	T	.	.	0.074	0.08754	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.633264	0.51480	23.1	0.98687264265153607	0.44709	0.95241	0.63962	D	AEFDBI	0.303555	0.41150	N	-0.203859866440724	0.32976	1.865678	-0.100853122219459	0.35356	2.044545	0.99994731375368	0.47345	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	4.09	3.19	0.35720	2.368000	0.43875	4.592000	0.43962	0.545000	0.25583	0.918000	0.31901	1.000000	0.68203	0.996000	0.76049	0.0:0.868:0.0:0.132	6.907	0.23493	490	0.76723	Domain of unknown function DUF3498;Domain of unknown function DUF3498;Domain of unknown function DUF3498;Domain of unknown function DUF3498;.;.;.;Domain of unknown function DUF3498	.	.	.	.	.	Likely benign	0	0	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	0.02381	1879.98	33	chr6	33443686	.	C	G	1879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=-2.480e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1894,0,1724	20	0	1	0
chr6	33691818	33691818	A	G	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon54:c.A7348G:p.S2450G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.002	B	0.220	N	0.998	N	0.17	N	-4.91	D	-0.114	T	0.606	D	0.12	0.831	8.351	2.17	0.372	0.725	7.398	0.248	0.020158584688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.125e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.06441	T	0.456	0.12740	T	0.0	0.02946	B	0.002	0.06944	B	0.219687	0.16168	N	0.660702	0.998017	0.22395	N	0.235	0.09667	N	-4.91	0.98352	D	-0.26	0.11185	N	0.123	0.11483	-0.1139	0.79777	T	0.606	0.86030	D	10	0.087097645	0.14870	T	0.020159	0.42696	T	0.248	0.55615	0.293	0.25560	0.86087754329	0.85952	0.22723139163491732	0.22638	0.634426790786	0.57297	0.316052138805	0.12823	T	0.517767	0.83077	D	0.0189041	0.54234	T	-0.210622	0.53635	T	0.0648851618170738	0.07914	T	0.651635	0.26249	T	0.04648566	0.07787	0.037053414	0.03278	0.04648566	0.07787	0.037053414	0.03278	-4.412	0.29719	T	.	.	0.061	0.01179	B	.;.	.;.	1.626272	0.20764	14.90	0.85562990613597933	0.15971	0.29979	0.23963	N	AEFGBCI	0.218741	0.34371	N	-0.752664607355254	0.14560	0.7263639	-0.630723656494468	0.18705	1.000444	0.99996819790157	0.48965	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.56	2.17	0.26736	1.337000	0.33467	0.825000	0.21891	0.756000	0.94297	0.001000	0.13787	0.005000	0.19230	0.977000	0.56843	0.8149:0.0:0.1851:0.0	7.398	0.26123	518	0.74548	Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1228.98	39	chr6	33691818	.	A	G	1228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.563;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=0.542;SOR=0.688	GT:AD:DP:GQ:PL	0/1:60,51:111:99:1243,0,1464	20	0	1	0
chr6	34058980	34058980	C	T	exonic	GRM4	.	nonsynonymous SNV	GRM4:NM_001256809:exon4:c.G814A:p.V272I	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.06	B	0.016	B	0.000	D	0.526	N	-0.595	N	-1.56	D	-1.034	T	0.091	T	0.05	-1.532	0.016	3.34	1.877	1.889	9.161	0.211	0.0145734144363	7.7e-05	0.000599042	0.0004	0	0.0003	0	0	0	0	0.0031	0.0003558	55	154602	rs149329300	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0.0001	0	2.519e-05	0	0	2.429e-05	0.0001	0.0028	6.567e-05	6.562e-05	2.57e-05	0.0001	0.0019	3.515e-05	2.615e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	1.0	0.06648	T	1.0	0.02908	T	0.003	0.23119	B	0.006	0.17743	B	0.000109	0.50451	D	0.078785	0.664196	0.31527	N	-0.75	0.01730	N	-1.56	0.81815	D	0.22	0.06138	N	0.176	0.21449	-1.0344	0.19046	T	0.091	0.34955	T	10	0.006861329	0.00156	T	0.014573	0.34773	T	0.211	0.50185	.	.	0.429810549338	0.42601	0.2883077885693418	0.28743	0.480749730577	0.47089	0.542326569557	0.44774	T	0.182685	0.53478	T	-0.486976	0.00675	T	-0.474705	0.25010	T	0.0150961788211788	0.00327	T	0.916808	0.70203	D	0.030390501	0.02693	0.043930627	0.05578	0.030390501	0.02692	0.043930627	0.05578	-2.574	0.30428	T	.	.	0.097	0.15921	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.363921	0.30321	18.40	0.17173937689717428	0.00490	0.55815	0.29959	D	AEFBI	0.150233	0.27449	N	-0.762796762214023	0.14288	0.7105147	-0.588270108209312	0.19798	1.063863	0.993294466981469	0.33159	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.34	3.34	0.37357	2.062000	0.41039	3.321000	0.37545	0.519000	0.23678	0.967000	0.34061	0.998000	0.33993	0.690000	0.33838	0.0:0.8962:0.0:0.1038	9.161	0.36185	862	0.33134	.;Receptor, ligand binding region;Receptor, ligand binding region;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	614.98	35	chr6	34058980	.	C	T	614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.640;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.91;ReadPosRankSum=1.26;SOR=0.585	GT:AD:DP:GQ:PL	0/1:42,27:69:99:629,0,1076	20	0	1	0
chr6	34528877	34528877	G	C	exonic	PACSIN1	.	nonsynonymous SNV	PACSIN1:NM_001199583:exon4:c.G456C:p.E152D	.	.	.	.	.	.	.	.	.	1.0000	0.978	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.553	P	0.083	B	0.000	D	1.000	D	1.95	M	2.41	T	-1.008	T	0.071	T	0.436	2.919	15.73	3.78	2.110	9.566	15.812	0.244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28646	T	0.165	0.30926	T	0.553	0.38185	P	0.083	0.29179	B	0.000002	0.62929	D	0.057166	1	0.81001	D	2.38	0.68558	M	2.41	0.48142	T	-1.81	0.42575	N	0.616	0.64223	-1.0078	0.27603	T	0.071	0.28969	T	10	0.4428772	0.58213	T	0.024482	0.47468	T	0.244	0.55061	0.294	0.25720	0.603040811188	0.59987	0.16305492827728518	0.16225	0.503798904839	0.48685	0.678037703037	0.63986	T	0.217569	0.58004	T	-0.0396076	0.46008	T	-0.29467	0.45284	T	0.786065635174898	0.45434	D	0.929307	0.73951	D	0.41346648	0.61654	0.24255277	0.49678	0.41346648	0.61655	0.24255277	0.49677	-4.274	0.27811	T	.	.	0.186	0.41572	B	.;.;.;.	.;.;.;.	6.345052	0.95053	34	0.99146723813992677	0.53682	0.99349	0.94855	D	AEFBI	0.935786	0.93115	D	0.223423782744756	0.52335	3.408396	0.272362554212518	0.53931	3.559894	0.999999999990351	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	3.78	3.78	0.42629	9.911000	0.98680	11.737000	0.95113	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	15.812	0.78346	632	0.64850	F-BAR domain|PACSIN1, F-BAR;F-BAR domain;F-BAR domain|PACSIN1, F-BAR;F-BAR domain|PACSIN1, F-BAR	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1176	99.15	53	chr6	34528877	.	G	C	99.15	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-2.849e+00;DP=1213;ExcessHet=0.6776;FS=95.332;InbreedingCoeff=-0.1646;MLEAC=4;MLEAF=0.118;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.10;SOR=7.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,7:47:21:0|1:34528877_G_C:21,0,1282:34528877	13	0	4	4
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.206	16.74	3.65	2.045	3.808	15.531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	524.24	53	chr6	34528878	.	G	C	524.24	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-7.030e-01;DP=1276;ExcessHet=4.7172;FS=105.745;InbreedingCoeff=-0.4484;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.745;SOR=9.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,7:47:21:0|1:34528877_G_C:21,0,1282:34528877	3	0	9	9
chr6	38803213	38803213	A	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon21:c.A2285G:p.H762R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.0	B	0.013	N	0.594	D	1.355	L	1.98	T	-1.016	T	0.016	T	0.335	0.819	8.295	4.47	1.064	2.960	9.812	0.082	0.00500033163357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.11298	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.013161	0.28928	N	0.391473	0.593964	0.32480	D	1.145	0.29067	L	1.82	0.25018	T	-0.36	0.26422	N	0.457	0.50868	-1.0159	0.25045	T	0.016	0.06616	T	10	0.18567312	0.33998	T	0.005	0.12629	T	0.082	0.23913	0.287	0.24601	0.482936932564	0.47924	0.5013480190215444	0.50056	0.149729052817	0.16885	0.615746617317	0.55127	T	0.002235	0.01836	T	-0.177165	0.24159	T	-0.492261	0.23155	T	0.336510896682739	0.26485	T	0.273673	0.04873	T	0.058687255	0.11837	0.0675319	0.13984	0.058687255	0.11837	0.0675319	0.13983	-2.413	0.05213	T	.	.	0.146	0.32275	B	.;.;.	.;.;.	2.000693	0.25418	16.76	0.81084714917796119	0.13512	0.80766	0.40321	D	AEFBHCI	0.339028	0.43631	N	-0.40300345222046	0.25365	1.376306	-0.214810816953811	0.31003	1.750665	0.996562343666348	0.34833	0.615465	0.37627	0	0.588015	0.36545	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.63	4.47	0.53770	2.639000	0.46236	6.087000	0.53406	-0.041000	0.17446	0.979000	0.35152	1.000000	0.68203	0.978000	0.57271	0.9205:0.0:0.0795:0.0	9.812	0.39996	495	0.76383	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1428.98	47	chr6	38803213	.	A	G	1428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=876;ExcessHet=0.0000;FS=0.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.420;SOR=0.578	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1443,0,1260	20	0	1	0
chr6	42066397	42066397	G	A	exonic	TAF8	.	nonsynonymous SNV	TAF8:NM_138572:exon6:c.G575A:p.R192H,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.798	P	0.229	B	0.000	D	1.000	D	1.575	L	.	.	-0.903	T	0.129	T	0.832	4.449	23.7	6.16	2.937	9.447	20.455	0.359	0.00862790631822	7.9e-05	.	7.458e-05	0	8.648e-05	0	0	5.998e-05	0	0.0002	5.82e-05	9	154602	rs374759131	4.857e-05	4.857e-05	4.764e-05	4.95e-05	0.0009	3.926e-05	3.604e-05	0.0003	0.0002	0	8.944e-05	0	0	0	0.0009	3.147e-05	0.0001	0.0002	3.282e-05	3.281e-05	1.285e-05	5.37e-05	0.0004	1.26e-05	7.97e-06	7.293e-05	3.03e-05	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0004	0.002	0.72154	D	0.001	0.83351	D	0.574	0.44840	P	0.134	0.38155	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.87	0.21467	L	.	.	.	-4.19	0.75935	D	0.859	0.85766	-0.9028	0.47694	T	0.129	0.43706	T	9	0.5706383	0.65299	D	0.008628	0.22804	T	0.359	0.67962	.	.	0.286848849266	0.28300	0.6144053751322054	0.61372	0.570417275968	0.53198	0.920234322548	0.98342	D	0.648888	0.89321	D	0.102021	0.64510	D	0.209093	0.83615	D	0.190264171704945	0.19860	T	0.947905	0.79907	D	0.7732927	0.82246	0.73847663	0.84542	0.7732927	0.82247	0.73847663	0.84543	-9.639	0.74204	D	.	.	0.965	0.90590	P	.;.;.;.;.	.;.;.;.;.	5.372758	0.90070	31	0.99900663663070788	0.97275	0.99327	0.94549	D	AEFGBHI	0.892692	0.82988	D	0.540677729297287	0.69516	5.368067	0.669723433983833	0.80086	7.22153	0.999999999998743	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	6.16	6.16	0.99302	9.571000	0.97334	11.787000	0.96267	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	20.455	0.99141	917	0.20147	.;.;.;Transcription factor TFIID, subunit 8, C-terminal|Transcription factor TFIID, subunit 8, C-terminal;Transcription factor TFIID, subunit 8, C-terminal|Transcription factor TFIID, subunit 8, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1032.98	36	chr6	42066397	.	G	A	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.030e-01;DP=794;ExcessHet=0.0000;FS=0.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=1.45;SOR=0.842	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1047,0,1411	20	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.956	P	0.785	P	0.000	D	0.992	D	0.93	L	-0.64	T	-0.812	T	0.190	T	0.424	2.585	14.60	4.45	1.216	0.876	8.891	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3889	1304.96	82	chr6	44229406	.	C	T	1304.96	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.959e+00;DP=2294;ExcessHet=14.4320;FS=177.510;InbreedingCoeff=-0.6006;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.16;SOR=12.393	GT:AD:DP:GQ:PL	0/1:89,32:121:36:36,0,1493	4	0	14	3
chr6	46140371	46140371	T	C	exonic	ENPP4	.	nonsynonymous SNV	ENPP4:NM_014936:exon2:c.T788C:p.I263T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.571	P	0.403	B	0.009	N	1.000	D	1.37	L	-0.73	T	-0.668	T	0.220	T	0.315	3.643	18.52	5.67	2.164	7.484	15.920	0.337	0.0303874404899	0.0002	.	3.478e-05	0	8.895e-05	0	0	4.641e-05	0	0	3.23e-05	5	154602	rs370794447	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.945e-05	0.0001	0.0001	3.069e-05	0.0002	0	0	0	0	0.0001	6.702e-05	3.621e-05	7.92e-05	7.887e-05	6.45e-05	9.461e-05	0.0002	4.515e-05	3.527e-05	5.867e-05	4.257e-05	2.42e-05	0	6.598e-05	0	0.0002	0	0	0.0001	0.0005	0	0.002	0.72154	D	0.156	0.31833	T	0.571	0.38591	P	0.403	0.44588	B	0.008689	0.30716	N	0.359891	0.999854	0.49910	D	1.64	0.41913	L	-0.73	0.73100	T	-2.71	0.57762	D	0.437	0.47580	-0.6685	0.61897	T	0.220	0.58306	T	10	0.3875548	0.54653	T	0.030387	0.52709	D	0.337	0.65913	.	.	0.798057565678	0.79617	0.759411696450155	0.75889	0.141411337327	0.15943	0.48231112957	0.36375	T	0.092999	0.39120	T	-0.187568	0.22617	T	-0.211012	0.53598	T	0.221240610639094	0.21526	T	0.965603	0.87267	D	0.5092817	0.67637	0.4985677	0.71007	0.5092817	0.67638	0.4985677	0.71007	-5.965	0.45986	T	.	.	0.088	0.11701	B	.	.	3.989335	0.58697	24.0	0.99794285951351858	0.87928	0.99659	0.98423	D	AEFGBI	0.864432	0.78323	D	0.364779870462901	0.59523	4.132557	0.46898975583836	0.65944	4.888382	0.999999999705979	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.67	5.67	0.87673	7.674000	0.83146	7.903000	0.73657	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.920	0.79349	546	0.72524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	765.98	39	chr6	46140371	.	T	C	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=841;ExcessHet=0.0000;FS=1.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-2.500e-02;SOR=1.003	GT:AD:DP:GQ:PL	0/1:40,28:68:99:780,0,1190	20	0	1	0
chr6	47901935	47901935	C	G	exonic	PTCHD4	.	nonsynonymous SNV	PTCHD4:NM_207499:exon3:c.G908C:p.G303A,	.	.	429	1081	12	0	0	12	0.00551978	0.0001	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.006	B	0.019	B	0.000	D	1.000	N	1.15	L	-4.34	D	-0.273	T	0.560	D	0.477	1.178	9.791	0.005	-0.113	-0.169	5.926	0.339	.	.	0.00379393	0.0063	0.0012	0.0155	0	0.0056	0.0089	0.0099	0.0052	0.0022057	341	154602	rs17556966	0.0087	0.0070	0.0091	0.0084	0.0242	0.0086	0.0085	0.0227	0.0221	0.0014	0.0242	0.0088	7.797e-05	0.0043	0.0061	0.0092	0.0062	0.0043	0.0058	0.0058	0.0066	0.0050	0.0088	0.0055	0.0054	0.0082	0.0079	0.0017	0.0285	0.0071	0.0055	0.0004	0.0035	0	0.0088	0.0061	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1156.98	33	chr6	47901935	.	C	G	1156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e-01;DP=774;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.512;SOR=0.705	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1171,0,945	20	0	1	0
chr6	56608207	56608207	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon36:c.A5788G:p.I1930V	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	11	1492	18	1	0	20	0.00665779	.	.	2820457	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.013	B	0.03	B	0.167	N	0.999	N	.	.	0.94	T	-1.063	T	0.083	T	0.069	-2.087	0.006	0.722	0.127	0.054	7.267	0.023	0.00375307226184	0.0005	0.000399361	0.0006	0	0.0004	0	0	0.0009	0	0.0002	0.0005627	87	154602	rs151214572	0.0005	0.0005	0.0005	0.0005	0.0106	0.0005	0.0005	0.0085	0.0077	0.0003	0.0007	0.0036	0	1.874e-05	0.0106	0.0004	0.0011	0.0004	0.0004	0.0004	0.0005	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	7.214e-05	0	0.0006	0.0023	0	0	0.0238	0.0005	0.0014	0.0006	0.857	0.02803	T	1.0	0.01155	T	0.013	0.16609	B	0.03	0.21741	B	0.166556	0.17501	N	0.497690	.	.	.	.	.	.	-0.11	0.67712	T	-0.03	0.07444	N	0.068	0.04072	-1.0630	0.11021	T	0.083	0.32499	T	8	0.003761053	0.00070	T	0.003753	0.08713	T	0.023	0.04649	.	.	0.204265027416	0.20035	.	.	.	.	.	.	.	0.00742	0.06827	T	-0.483638	0.00705	T	-0.561404	0.16246	T	0.00445262401150841	0.00048	T	0.734227	0.35027	T	.	.	.	.	.	.	.	.	-3.661	0.18744	T	.	.	.	.	.	.;.	.;.	0.892483	0.12662	9.184	0.22045076318213452	0.00868	0.15181	0.18784	N	AEFBCI	0.091403	0.18515	N	-0.90140189941813	0.10809	0.5183993	-0.867754581094253	0.12861	0.6640525	0.0572692526383711	0.15086	0.706548	0.73137	0	0.379588	0.06130	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.75	0.722	0.17379	0.054000	0.14087	0.100000	0.14636	0.665000	0.62972	0.091000	0.22601	0.006000	0.19429	0.991000	0.66497	0.0:0.5883:0.1762:0.2355	7.267	0.25410	255	0.89985	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2039.98	37	chr6	56608207	.	T	C	2039.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=930;ExcessHet=0.0000;FS=0.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-9.340e-01;SOR=0.750	GT:AD:DP:GQ:PL	0/1:67,78:145:99:2054,0,1632	20	0	1	0
chr6	65304422	65304422	T	C	exonic	LOC441155	.	nonsynonymous SNV	LOC441155:NM_001271675:exon2:c.T1901C:p.V634A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	47.99	14	chr6	65304422	.	T	C	47.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=324;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=26.62;MQRankSum=0.349;QD=4.36;ReadPosRankSum=0.199;SOR=0.180	GT:AD:DP:GQ:PL	0/1:8,3:11:62:62,0,215	20	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,15,0:54:99:0|1:80007990_G_C:351,0,1366,466,1410,1876:80007990	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,15,0,0:54:99:0|1:80007990_G_C:351,0,1366,466,1410,1876,466,1410,1876,1876:80007990	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,15,0,0:54:99:0|1:80007990_G_C:351,0,1366,466,1410,1876,466,1410,1876,1876:80007990	8	0	5	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,15,8:52:99:1|0:80007990_G_C:581,0,1257,375,886,1282:80007990	2	0	13	4
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	144.91	42	chr6	80007993	.	T	*,C	144.91	.	AC=10,2;AF=0.385,0.077;AN=26;BaseQRankSum=0.236;DP=945;ExcessHet=22.5857;FS=237.638;InbreedingCoeff=-0.4416;MLEAC=14,3;MLEAF=0.538,0.115;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.301;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,15,8:52:99:1|0:80007990_G_C:584,0,1250,377,886,1285:80007990	1	0	10	8
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,15,0,8:52:99:1|0:80007990_G_C:584,0,1250,595,1167,1692,377,886,1365,1285:80007990	1	0	7	8
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,15,0,8:52:99:1|0:80007990_G_C:584,0,1250,595,1167,1692,377,886,1365,1285:80007990	1	0	7	8
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,15,0,8:52:99:1|0:80007990_G_C:584,0,1250,595,1167,1692,377,886,1365,1285:80007990	1	0	7	8
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2870.52	47	chr6	80007997	.	G	GCCCCCA	2870.52	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.779e+00;DP=993;ExcessHet=2.5830;FS=136.989;InbreedingCoeff=-0.2354;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=0.519;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,15:52:99:0|1:80007990_G_C:357,0,1317:80007990	12	0	7	2
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,30,0,0:30:86:1308,86,0,1312,90,1317,1312,90,1317,1317	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,30,0,0:30:86:1308,86,0,1312,90,1317,1312,90,1317,1317	3	8	1	0
chr6	82217974	82217974	C	T	exonic	IBTK	.	nonsynonymous SNV	IBTK:NM_001300906:exon10:c.G1412A:p.S471N	.	.	445	1070	7	0	0	7	0.00326036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.001	B	0.001	B	0.056	N	0.999	N	-1.265	N	2.0	T	-0.916	T	0.006	T	0.081	-0.144	3.294	-0.781	-0.056	-0.936	7.045	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1663.98	34	chr6	82217974	.	C	T	1663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=839;ExcessHet=0.0000;FS=1.341;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.282;SOR=0.570	GT:AD:DP:GQ:PL	0/1:71,68:139:99:1678,0,1601	20	0	1	0
chr6	89149329	89149329	G	T	exonic	PM20D2	.	nonsynonymous SNV	PM20D2:NM_001010853:exon2:c.G530T:p.G177V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.41	H	0.4	T	0.364	D	0.534	D	0.951	4.760	26.7	5.87	2.941	8.777	20.193	0.704	0.0809353473082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.235	0.97980	H	0.4	0.57261	T	-8.84	0.97846	D	0.979	0.98929	0.364	0.88548	D	0.534	0.82753	D	10	0.9816208	0.98196	D	0.080935	0.73570	D	0.704	0.89376	0.915	0.98384	0.886502306561	0.88538	0.9714040888900445	0.97129	0.636712139675	0.57440	0.702384591103	0.67488	T	0.470283	0.80346	T	0.366805	0.87772	D	0.289114	0.87615	D	0.999740064144135	0.98780	D	0.928207	0.73493	D	0.9907454	0.99802	0.9851459	0.99926	0.9907454	0.99802	0.9851459	0.99926	-12.368	0.86597	D	.	.	0.836	0.79030	P	.	.	5.115965	0.85548	28.6	0.99787788670046829	0.87396	0.99742	0.99125	D	AEFDBI	0.897215	0.83915	D	1.17249399905379	0.99257	21.51048	1.08194681370508	0.99678	25.14374	0.99999999999985	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	8.953000	0.92934	11.741000	0.95195	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.193	0.98235	907	0.22727	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	656.98	34	chr6	89149329	.	G	T	656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.660e-01;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=-1.179e+00;SOR=0.690	GT:AD:DP:GQ:PL	0/1:45,30:75:99:671,0,1098	20	0	1	0
chr6	110404898	110404898	C	T	exonic	DDO	.	nonsynonymous SNV	DDO:NM_001368172:exon4:c.G334A:p.V112M	.	.	439	1049	32	2	0	36	0.0168697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.973	D	0.675	P	0.004	N	1.000	N	1.54	L	-1.49	T	-0.467	T	0.325	T	0.129	3.373	17.37	4.64	2.644	0.465	6.037	0.280	.	0.0013	0.00159744	0.0031	0.0003	0.0010	0	0	0.0022	0.0011	0.0130	0.0026584	411	154602	rs141098854	0.0017	0.0017	0.0013	0.0022	0.0121	0.0017	0.0017	0.0113	0.0111	8.961e-05	0.0008	0.0179	0	1.872e-05	0.0121	0.0007	0.0030	0.0119	0.0015	0.0015	0.0013	0.0017	0.0145	0.0013	0.0013	0.0118	0.0108	2.405e-05	0	0.0014	0.0159	0	0	0.0102	0.0010	0.0038	0.0145	0.101	0.30375	T	0.213	0.26467	T	0.973	0.57599	D	0.675	0.53279	P	0.004021	0.34221	N	0.245550	1	0.81001	D	.	.	.	-1.49	0.81235	T	-0.68	0.19509	N	0.339	0.38027	-0.4671	0.69827	T	0.325	0.69393	T	10	0.009713918	0.00218	T	.	.	.	0.280	0.59740	.	.	0.781387162742	0.77936	0.41339364752646196	0.41255	0.213166303579	0.23823	0.410024613142	0.26460	T	.	.	.	-0.422757	0.01643	T	-0.36965	0.36929	T	0.0394032923217134	0.03583	T	0.920008	0.71084	D	.	.	.	.	.	.	.	.	-8.309	0.63156	D	.	.	0.209	0.43585	B	.	.	4.352484	0.66859	25.0	0.99855936106604382	0.93458	0.21064	0.21268	N	AEFDGBHCI	0.029746	0.02864	N	0.226385058434532	0.52480	3.42197	0.203662871042581	0.50049	3.201193	0.998288791826577	0.36695	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	4.64	0.57399	0.795000	0.26632	2.625000	0.33658	0.596000	0.33519	0.012000	0.18695	0.990000	0.31317	0.980000	0.58198	0.0:0.66:0.1974:0.1426	6.037	0.18936	539	0.73055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1200.98	34	chr6	110404898	.	C	T	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=777;ExcessHet=0.0000;FS=1.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-5.940e-01;SOR=0.962	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1215,0,1076	20	0	1	0
chr6	132645922	132645922	T	A	exonic	TAAR1	.	nonsynonymous SNV	TAAR1:NM_138327:exon2:c.A82T:p.S28C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.003	B	0.010	N	0.994	N	1.39	L	1.17	T	-1.022	T	0.025	T	0.228	0.961	8.920	1.15	0.365	0.843	4.392	0.047	0.00434220566516	.	0.000199681	0.0006	9.612e-05	0	0	0	0	0	0.0044	0.0004851	75	154602	rs558642256	0.0003	0.0003	0.0001	0.0004	0.0044	0.0002	0.0002	0.0041	0.0039	2.989e-05	0	0	0	0	0.0003	0	8.281e-05	0.0044	9.196e-05	9.187e-05	6.425e-05	0.0001	0.0029	5.526e-05	4.363e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.093	0.31532	T	0.133	0.34359	T	0.001	0.07471	B	0.003	0.08700	B	0.010081	0.30079	N	0.385192	0.994033	0.23600	N	2.075	0.57047	M	1.17	0.37910	T	-0.36	0.13035	N	0.251	0.28381	-1.0216	0.23195	T	0.025	0.10643	T	10	0.0058303475	0.00130	T	0.004342	0.10561	T	0.047	0.12962	0.45	0.51121	0.0666544352282	0.05500	0.2487779515162088	0.24791	0.010210312664	0.00941	0.270166099072	0.06162	T	0.047288	0.27679	T	-0.536753	0.00350	T	-0.543655	0.17939	T	0.0271558042313498	0.01566	T	0.559344	0.19537	T	0.067891024	0.14744	0.041430477	0.04708	0.067891024	0.14744	0.041430477	0.04707	-3.949	0.23038	T	.	.	0.069	0.03266	B	.	.	1.844090	0.23430	16.01	0.73885380587075677	0.10491	0.57604	0.30420	D	AEFI	0.101193	0.20330	N	-0.882203399392022	0.11266	0.5427603	-0.765844664317308	0.15334	0.8059197	1.33821126667441E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.51	1.15	0.19876	0.542000	0.22930	1.108000	0.24132	-0.795000	0.03215	0.259000	0.24939	0.861000	0.27489	0.930000	0.46718	0.2462:0.2037:0.0:0.5501	4.392	0.10777	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2476.98	40	chr6	132645922	.	T	A	2476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.850;DP=973;ExcessHet=0.0000;FS=2.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.482;SOR=0.872	GT:AD:DP:GQ:PL	0/1:93,100:195:99:2491,0,2197	20	0	1	0
chr6	138432084	138432084	G	C	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.C2273G:p.P758R	.	.	429	1086	7	0	0	7	0.00321248	.	.	2820732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.878	P	0.000	D	1.000	D	1.995	M	1.64	T	-0.929	T	0.129	T	0.415	3.176	16.63	5.25	2.454	7.525	13.174	0.201	0.0145111183151	.	0.00179712	0.0032	0	0	0	0	0.0005	0	0.0075	0.0005304	82	154602	rs138276881	0.0007	0.0007	0.0005	0.0010	0.0081	0.0007	0.0007	0.0075	0.0073	6.33e-05	0.0003	0	2.798e-05	0	0.0033	0.0003	0.0008	0.0081	0.0005	0.0005	0.0004	0.0006	0.0093	0.0004	0.0004	0.0072	0.0064	2.405e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0005	0.0093	0.013	0.54683	D	0.079	0.42086	T	0.993	0.65571	D	0.878	0.62312	P	0.000077	0.52346	D	0.132386	0.999646	0.48019	D	2.91	0.84121	M	1.16	0.38073	T	-4.78	0.80510	D	0.37	0.41162	-0.9291	0.44270	T	0.129	0.43726	T	10	0.007284969	0.00166	T	0.014511	0.34674	T	0.201	0.48592	.	.	0.231873229951	0.22792	0.17891690152936426	0.17810	.	.	0.393936961889	0.24222	T	0.094766	0.39483	T	-0.345096	0.05043	T	-0.263777	0.48445	T	0.183028155804875	0.19424	T	0.865513	0.57479	D	0.21879137	0.44395	0.2890722	0.54926	0.21879137	0.44395	0.2890722	0.54925	-5.916	0.45571	T	.	.	0.234	0.50572	B	.;.	.;.	4.397426	0.67920	25.2	0.99843194641176625	0.92316	0.99091	0.91093	D	AEFDBI	0.902680	0.85086	D	0.686859147772298	0.78771	6.939236	0.649816011252659	0.78596	6.908374	0.999999999951225	0.74766	0.744818	0.98587	0	0.54472	0.11627	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	7.647000	0.82624	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0765:0.0:0.9235:0.0	13.174	0.59037	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	986.98	46	chr6	138432084	.	G	C	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=1225;ExcessHet=0.0000;FS=1.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=0.457;SOR=0.510	GT:AD:DP:GQ:PL	0/1:67,40:107:99:1001,0,1780	20	0	1	0
chr6	143433974	143433974	C	T	exonic	ADAT2	.	nonsynonymous SNV	ADAT2:NM_001286259:exon3:c.G68A:p.R23Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.999	D	0.814	P	0.000	D	1.000	D	1.345	L	1.01	T	-1.068	T	0.109	T	0.725	5.332	34	4.37	2.254	6.953	17.122	0.253	0.0222667837073	8.1e-05	.	8.287e-06	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs371702532	2.737e-06	3.42e-06	2.723e-06	2.75e-06	4.472e-05	6.4e-07	4.3e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.068	0.44106	T	0.999	0.77913	D	0.814	0.58796	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.865	0.49290	L	1.01	0.41058	T	-3.42	0.67241	D	0.878	0.89242	-1.0681	0.09836	T	0.109	0.39462	T	10	0.82335997	0.81528	D	0.022267	0.45141	T	0.253	0.56294	.	.	0.664996154042	0.66218	0.905471267796962	0.90520	0.805012700567	0.66421	0.615372776985	0.55074	T	0.214031	0.57551	T	0.0723714	0.61135	D	-0.13382	0.60649	T	0.979450106620789	0.72835	D	0.933407	0.75038	D	0.73863953	0.80214	0.44949278	0.67957	0.73863953	0.80216	0.44949278	0.67957	-6.659	0.51508	T	.	.	0.466	0.64334	A	.;.	.;.	5.505025	0.91624	32	0.99948160977970557	0.99923	0.98230	0.80748	D	AEFBI	0.745569	0.68820	D	0.538112937577269	0.69360	5.345995	0.540607691501203	0.70747	5.550752	0.99999999997979	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.37	4.37	0.51830	7.401000	0.79199	7.539000	0.60051	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.122	0.86582	866	0.32446	.;Cytidine and deoxycytidylate deaminase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	890.98	45	chr6	143433974	.	C	T	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=888;ExcessHet=0.0000;FS=3.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-9.050e-01;SOR=1.118	GT:AD:DP:GQ:PL	0/1:76,38:114:99:905,0,1930	20	0	1	0
chr6	154406433	154406433	G	A	exonic	CNKSR3	.	nonsynonymous SNV	CNKSR3:NM_001368119:exon10:c.C1064T:p.S355F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.371	B	0.197	B	0.559	N	1.000	N	1.5	L	1.33	T	-0.972	T	0.073	T	0.206	1.208	9.904	2.97	1.173	3.146	14.922	0.057	0.014169001466	.	0.000199681	2.471e-05	9.61e-05	8.642e-05	0	0	0	0	6.056e-05	2.59e-05	4	154602	rs146062752	1.3e-05	1.3e-05	8.167e-06	1.788e-05	0.0001	8.31e-06	6.7e-06	7.997e-05	6.236e-05	2.987e-05	0	0	2.519e-05	0	0	2.698e-06	3.311e-05	0.0001	1.97e-05	1.968e-05	0	4.028e-05	0.0002	5.24e-06	2.45e-06	7.98e-06	2.98e-06	4.814e-05	0	0	0	0	0	0	0	0	0.0002	0.004	0.65419	D	0.017	0.60972	D	0.371	0.34093	B	0.197	0.36707	B	0.558874	0.11357	N	0.787438	1	0.08975	N	1.935	0.51832	L	0.73	0.50721	T	-1.93	0.44852	N	0.117	0.10626	-0.9721	0.36755	T	0.073	0.29451	T	10	0.11287314	0.21186	T	0.014169	0.34105	T	0.057	0.16321	.	.	0.413635276047	0.40977	0.31476208348370155	0.31389	0.374703731158	0.38933	.	.	.	0.277386	0.65001	T	-0.345876	0.04991	T	-0.460303	0.26565	T	0.136203393340111	0.15944	T	0.742826	0.36203	T	0.12133997	0.28535	0.20054865	0.43992	0.12133997	0.28535	0.20054865	0.43991	-6.032	0.46546	T	.	.	0.087	0.17445	B	.;.	.;.	2.825852	0.37236	20.4	0.9925051074595338	0.56858	0.77533	0.38132	D	AEFDBI	0.394214	0.47156	N	-0.250065127649039	0.31101	1.740571	-0.271952134116999	0.29026	1.622986	0.999728663915406	0.42220	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.93	2.97	0.33479	3.208000	0.50816	4.860000	0.45461	0.676000	0.76740	0.924000	0.32081	0.992000	0.31684	0.060000	0.15972	0.0:0.2707:0.7293:0.0	14.922	0.70489	861	0.33516	Connector enhancer of kinase suppressor of ras 2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1626.98	33	chr6	154406433	.	G	A	1626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=811;ExcessHet=0.0000;FS=0.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=-2.190e-01;SOR=0.775	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1641,0,1310	20	0	1	0
chr6	158776451	158776451	T	C	exonic	EZR	.	nonsynonymous SNV	EZR:NM_003379:exon7:c.A752G:p.N251S	.	.	423	1079	19	1	0	21	0.00963745	.	.	428594	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.191	B	0.299	B	0.000	D	1.000	D	-0.335	N	-1.53	D	-0.787	T	0.174	T	0.116	2.873	15.57	4.82	1.943	4.925	14.706	0.307	0.0507543470514	0.0005	0.000798722	0.0011	0.0002	0.0016	0.0001	0.0002	0.0006	0.0022	0.0045	0.0009379	145	154602	rs139467617	0.0007	0.0007	0.0006	0.0009	0.0047	0.0007	0.0007	0.0044	0.0042	0.0002	0.0015	0	0	0.0003	0.0026	0.0004	0.0012	0.0047	0.0006	0.0006	0.0005	0.0006	0.0035	0.0005	0.0004	0.0022	0.0018	0.0001	0	0.0007	0	0	0.0002	0.0034	0.0007	0.0024	0.0035	0.418	0.09896	T	0.437	0.13480	T	0.03	0.20002	B	0.03	0.21741	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.175	0.09039	N	-1.53	0.81559	D	-4.44	0.77637	D	0.418	0.46649	-0.7871	0.55898	T	0.174	0.51690	T	10	0.011818022	0.00257	T	0.050754	0.64375	D	0.307	0.62838	.	.	0.608299970385	0.60515	0.35303571300205716	0.35217	0.264651535542	0.29007	0.697936177254	0.66846	T	0.925362	0.98695	D	-0.404072	0.02177	T	-0.351969	0.38980	T	0.0626697409917224	0.07583	T	0.894311	0.63332	D	0.59275836	0.72300	0.42574635	0.66374	0.59275836	0.72301	0.42574635	0.66374	-9.129	0.68523	D	.	.	0.070	0.03661	B	.;.;.	.;.;.	3.220493	0.43878	21.8	0.99765355209756768	0.85417	0.93515	0.58427	D	AEFBCI	0.652847	0.62610	D	-0.208291807080447	0.32794	1.853399	0.00746469420816007	0.40060	2.384867	0.999999382922121	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	4.909000	0.63010	4.153000	0.42161	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.706	0.68805	753	0.51500	FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	630.98	34	chr6	158776451	.	T	C	630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.918;DP=799;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=-1.492e+00;SOR=0.903	GT:AD:DP:GQ:PL	0/1:45,28:73:99:645,0,1104	20	0	1	0
chr6	159036794	159036794	C	G	exonic	TAGAP	.	nonsynonymous SNV	TAGAP:NM_001278733:exon6:c.G1040C:p.G347A	.	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.893	N	1.000	N	-0.255	N	2.59	T	-0.929	T	0.005	T	0.028	-0.628	1.215	0.863	-0.126	-0.092	8.614	0.030	.	0.0015	0.00479233	0.0049	9.632e-05	0.0003	0.0001	0.0243	0.0030	0.0110	0.0132	0.0042237	653	154602	rs144047559	0.0037	0.0037	0.0034	0.0040	0.0125	0.0036	0.0036	0.0119	0.0117	0.0003	0.0006	0.0006	0	0.0214	0.0054	0.0025	0.0039	0.0125	0.0032	0.0032	0.0024	0.0041	0.0155	0.0030	0.0029	0.0127	0.0117	0.0002	0	0.0010	0.0006	0.0002	0.0186	0.0068	0.0027	0.0033	0.0155	0.776	0.03326	T	0.964	0.03039	T	0.001	0.07471	B	0.003	0.08700	B	0.892609	0.07305	N	1.048490	1	0.08975	N	1.05	0.26816	L	2.34	0.16351	T	-0.5	0.15782	N	0.017	0.00226	-0.9295	0.44212	T	0.005	0.01651	T	10	0.0031353533	0.00052	T	.	.	.	0.030	0.07022	.	.	0.043077524339	0.03247	0.17641509015634613	0.17560	0.32236699631	0.34429	0.240370839834	0.02824	T	0.021877	0.16964	T	-0.744083	0.00019	T	-0.830569	0.01252	T	0.00247982746466107	0.00026	T	0.413359	0.10763	T	0.028559336	0.02212	0.032357886	0.01958	0.028559336	0.02211	0.032357886	0.01958	-3.281	0.13493	T	.	.	0.077	0.12512	B	.;.	.;.	-0.458794	0.02002	0.177	0.10623666636609046	0.00139	0.04924	0.10679	N	AEFDBI	0.107186	0.21363	N	-1.23673434551937	0.04478	0.2021587	-1.17973110660382	0.06249	0.3002034	0.964498186892775	0.28764	0.562547	0.31514	0	0.653731	0.59785	0	0.478664	0.07449	1	0.564101	0.26826	0	.	.	5.93	0.863	0.18199	0.216000	0.17370	0.091000	0.14516	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2801:0.5441:0.1758	8.614	0.32984	799	0.44747	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3411.11	43	chr6	159036794	.	C	G	3411.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.681;DP=1037;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=1.41;SOR=0.696	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1545,0,1772	19	0	2	0
chr6	159249125	159249125	G	A	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon16:c.G4777A:p.A1593T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	P	0.048	B	0.783	N	0.994	N	-0.895	N	4.11	T	-0.958	T	0.005	T	0.202	-0.102	3.500	-4.15	-1.039	-0.458	1.340	0.011	0.00351854793206	.	0.000599042	0.0002	0	0	0	0.0002	2.102e-05	0	0.0013	0.0001488	23	154602	rs575733474	4.664e-05	5.199e-05	2.318e-05	7.037e-05	0.0007	3.737e-05	3.42e-05	0.0005	0.0005	5.985e-05	0	3.846e-05	0	0	0.0003	3.603e-06	3.317e-05	0.0007	5.909e-05	5.905e-05	6.423e-05	5.37e-05	0.0010	3.075e-05	2.208e-05	0.0004	0.0003	9.624e-05	0	0	0	0	0	0	0	0	0.0010	1.0	0.00964	T	0.482	0.11829	T	0.469	0.36524	P	0.048	0.24975	B	0.782861	0.09457	N	0.908786	0.99433	0.23540	N	-1.39	0.00611	N	3.3	0.06368	T	0.41	0.03407	N	0.008	0.00068	-0.9579	0.39571	T	0.005	0.01833	T	9	0.0050886273	0.00110	T	0.003519	0.08000	T	0.036	0.09122	.	.	0.269111216191	0.26524	0.08026016403560496	0.07961	0.168615054089	0.19010	0.236982479692	0.02525	T	0.001277	0.00758	T	-0.621836	0.00107	T	-0.722349	0.04682	T	0.0294918302841827	0.01912	T	0.49515	0.15352	T	0.04359374	0.06821	0.047436085	0.06833	0.04359374	0.06821	0.047436085	0.06833	-3.06	0.10842	T	.	.	0.059	0.00847	B	.	.	-0.853380	0.01006	0.041	0.8071207421237574	0.13333	0.04010	0.09437	N	AEFDBIJ	0.046585	0.07753	N	-1.06227974976635	0.07348	0.3410722	-1.10215281212436	0.07659	0.3734241	0.999991480273577	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.57	-4.15	0.03617	-0.505000	0.06448	-0.652000	0.08023	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.256000	0.23417	0.3064:0.1445:0.0992:0.4498	1.340	0.02022	816	0.41767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1405.98	33	chr6	159249125	.	G	A	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.693;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-2.400e-01;SOR=0.682	GT:AD:DP:GQ:PL	0/1:51,57:108:99:1420,0,1172	20	0	1	0
chr6	160062604	160062604	G	A	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon26:c.G3655A:p.V1219I,	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.009	B	0.011	B	0.005	N	1.000	N	1.67	L	2.93	T	-0.935	T	0.009	T	0.073	0.731	7.886	-0.493	-0.069	0.048	9.391	0.035	0.0120311392572	7.7e-05	.	4.123e-05	0	8.657e-05	0	0	5.999e-05	0	0	4.53e-05	7	154602	rs368061810	6.436e-05	6.499e-05	7.63e-05	5.229e-05	0.0002	5.366e-05	4.98e-05	7.286e-05	5.163e-05	0.0001	0.0002	0.0004	0	1.872e-05	0	5.311e-05	9.941e-05	5.8e-05	2.629e-05	2.627e-05	5.14e-05	0	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0.0005	0	0.472	0.08433	T	0.294	0.20745	T	0.009	0.15093	B	0.011	0.15521	B	0.005474	0.32770	N	0.326816	1	0.08975	N	.	.	.	2.93	0.09822	T	-0.01	0.07155	N	0.101	0.08366	-0.9354	0.43333	T	0.009	0.03271	T	10	0.026019573	0.00779	T	0.012031	0.30231	T	0.035	0.08770	.	.	0.134007934775	0.12933	0.0895377099535357	0.08886	0.330999952063	0.35175	0.270586490631	0.06218	T	0.074881	0.35045	T	-0.527776	0.00396	T	-0.770189	0.02762	T	0.02886469848454	0.01817	T	0.664534	0.27348	T	0.034022618	0.03737	0.04775764	0.06948	0.034022618	0.03737	0.04775764	0.06947	-4.024	0.24162	T	.	.	0.076	0.06114	B	.;.	.;.	0.280530	0.06573	3.064	0.74876671377513093	0.10860	0.06365	0.12366	N	AEFBI	0.029715	0.02856	N	-1.27318083929945	0.04001	0.1798176	-1.29247602802746	0.04531	0.2139589	0.0727534177804796	0.15611	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.09	-0.493	0.11437	0.034000	0.13663	1.925000	0.29735	-2.683000	0.00214	0.003000	0.16062	0.974000	0.29927	0.010000	0.09038	0.233:0.0:0.6664:0.1005	9.391	0.37535	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1856.98	34	chr6	160062604	.	G	A	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.240e-01;DP=872;ExcessHet=0.0000;FS=1.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=0.188;SOR=0.904	GT:AD:DP:GQ:PL	0/1:79,81:160:99:1871,0,1816	20	0	1	0
chr6	160600968	160600968	C	T	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon19:c.G3076A:p.V1026I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.499	P	0.029	B	.	.	1.000	N	0.285	N	-0.0	T	-1.054	T	0.030	T	0.079	-0.781	0.727	-3.18	-0.729	-2.439	6.379	0.024	0.00544081800771	.	.	4.973e-05	0	8.646e-05	0.0002	0	2.998e-05	0	6.057e-05	3.88e-05	6	154602	rs759100515	5.337e-05	5.336e-05	5.038e-05	5.639e-05	9.277e-05	4.345e-05	4.018e-05	4.579e-05	4.028e-05	0	8.944e-05	3.827e-05	0	0	0	5.576e-05	4.97e-05	9.277e-05	1.314e-05	1.314e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.407	0.10245	T	0.503	0.12107	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.0	0.62608	T	-0.06	0.07882	N	0.054	0.02559	-1.0542	0.13251	T	0.030	0.13111	T	9	0.06141302	0.07696	T	0.005441	0.13984	T	0.024	0.04979	.	.	0.0138822411134	0.00435	0.2147242351725826	0.21388	0.0332195700882	0.03470	0.394214361906	0.24262	T	.	.	.	-0.449959	0.01130	T	-0.658409	0.08375	T	0.0257672644609896	0.01374	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13737	B	.;.	.;.	-1.963046	0.00110	0.002	0.49796668221216667	0.04272	0.00152	0.00917	N	AEFBI	0.034091	0.04162	N	-1.84851534985706	0.00437	0.01879282	-1.95727056664828	0.00376	0.01660021	8.54938164367714E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.94	-3.18	0.04867	-3.698000	0.00437	-1.259000	0.05884	-4.782000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3282:0.0:0.6718	6.379	0.20729	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1792.98	34	chr6	160600968	.	C	T	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.877;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.45;ReadPosRankSum=0.244;SOR=0.653	GT:AD:DP:GQ:PL	0/1:41,68:109:99:1807,0,893	20	0	1	0
chr6	167315412	167315412	T	C	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon7:c.T1208C:p.V403A	.	.	413	1039	70	0	0	70	0.0325885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.0	B	0.029	N	1.000	N	-0.69	N	3.65	T	-0.932	T	0.001	T	0.026	-0.444	1.940	-3.95	-0.778	-0.774	0.201	0.047	0.00171249185324	.	.	0.0023	0.0020	0.0004	0.0024	0.0026	0.0029	0.0077	0.0012	7.68e-05	2	26028	rs752323292	0.0005	0.0067	0.0005	0.0005	0.0041	0.0004	0.0004	0.0036	0.0034	0.0001	2.266e-05	7.901e-05	0.0041	0.0010	0.0014	0.0003	0.0008	0.0006	0.0006	0.0063	0.0006	0.0007	0.0017	0.0005	0.0005	0.0008	0.0006	0.0004	0	0.0004	0	0.0017	0.0011	0	0.0007	0.0005	0.0014	0.755	0.03533	T	0.788	0.04220	T	0.0	0.02946	B	0.0	0.01387	B	0.029466	0.01703	N	2.657010	1	0.08975	N	-0.895	0.01383	N	3.61	0.04446	T	0.85	0.01736	N	0.022	0.00666	-0.9323	0.43799	T	0.001	0.00438	T	10	0.006008148	0.00135	T	0.001712	0.02856	T	0.047	0.12962	.	.	0.0138822411134	0.00435	0.13178615577524272	0.13103	0.284254945411	0.30848	0.244545891881	0.03215	T	0.001207	0.00701	T	-0.446715	0.01181	T	-0.879451	0.00658	T	0.00895254053920366	0.00112	T	0.0821918	0.00603	T	0.016546153	0.00205	0.036088627	0.02986	0.016546153	0.00205	0.036088627	0.02986	-3.06	0.12914	T	.	.	0.058	0.02578	B	.;.	.;.	-0.244935	0.02869	0.407	0.4228581334093004	0.03107	0.00142	0.00866	N	AEFDGBI	0.051140	0.09005	N	-1.66025916697445	0.00992	0.04303088	-1.6744461208731	0.01255	0.05655026	0.812093583063515	0.24374	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.86	-3.95	0.03844	-0.367000	0.07607	-3.275000	0.02915	-0.423000	0.05224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3648:0.155:0.2022:0.2779	0.201	0.00135	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	277.11	83	chr6	167315412	.	T	C	277.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.15;DP=1145;ExcessHet=0.1072;FS=4.825;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.65;MQRankSum=-6.308e+00;QD=1.56;ReadPosRankSum=0.143;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,9:87:99:0|1:167315412_T_C:143,0,3223:167315412	19	0	2	0
chr6	167944014	167944014	G	A	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001207008:exon24:c.G3241A:p.G1081S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.35	M	3.58	T	-1.128	T	0.049	T	0.596	5.538	35	5.03	2.320	9.268	18.395	0.381	0.0352764891243	.	.	9.889e-05	9.612e-05	0.0003	0	0	0	0.0022	0.0004	7.76e-05	12	154602	rs759240178	5.267e-05	5.267e-05	4.492e-05	6.05e-05	0.0003	4.277e-05	3.953e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	3.507e-05	9.935e-05	0.0003	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	0.006	0.68238	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	2.25	0.63811	M	3.58	0.05642	T	-5.99	0.89401	D	0.658	0.73015	-1.1277	0.01896	T	0.049	0.20711	T	10	0.5066035	0.61854	D	0.035276	0.56238	D	0.381	0.69863	0.416	0.45544	0.367638622828	0.36380	0.6305355530514919	0.62987	1.08563880484	0.77273	0.809430718422	0.83405	D	0.372552	0.98555	T	-0.266921	0.12103	T	-0.284931	0.46297	T	0.605706036090851	0.36628	D	0.998031	0.99112	D	0.68518317	0.77249	0.61968035	0.77848	0.68518317	0.77251	0.61968035	0.77849	-9.587	0.72681	D	.	.	0.953	0.90483	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.326306	0.89388	30	0.99891544583183389	0.96513	0.99546	0.97297	D	AEFBI	0.944433	0.95151	D	0.872205862911751	0.90333	10.35691	0.831965880714993	0.91919	11.13857	0.999999999975418	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	9.393000	0.96618	11.549000	0.93171	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.395	0.90441	.	.	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1449.98	34	chr6	167944014	.	G	A	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e-01;DP=810;ExcessHet=0.0000;FS=2.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-2.880e-01;SOR=0.933	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1464,0,1260	20	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:32,0,32:64:99:.:.:787,883,1812,0,929,833	7	3	4	1
chr6	169643735	169643735	A	C	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon12:c.T1136G:p.F379C	.	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.672	P	0.196	B	0.001	N	1.000	D	1.445	L	4.86	T	-1.103	T	0.048	T	0.767	0.254	5.375	4.0	0.789	3.432	11.176	0.223	.	0.0019	0.00199681	0.0033	0.0002	0.0007	0.0001	0.0003	0.0028	0.0058	0.0116	0.0029883	462	154602	rs201488884	0.0030	0.0030	0.0027	0.0033	0.0103	0.0029	0.0029	0.0097	0.0095	0.0003	0.0006	0.0049	2.519e-05	0.0004	0.0055	0.0028	0.0025	0.0103	0.0017	0.0017	0.0013	0.0021	0.0093	0.0015	0.0015	0.0072	0.0064	0.0002	0.0011	0.0005	0.0058	0	0.0004	0	0.0025	0.0024	0.0093	0.059	0.41915	T	0.026	0.55759	D	0.125	0.26866	B	0.054	0.25828	B	0.000722	0.42129	N	0.162064	0.962745	0.26053	N	.	.	.	0.88	0.46028	T	-5.47	0.85617	D	0.697	0.70175	-1.1034	0.03704	T	0.048	0.20632	T	10	0.0104136765	0.00232	T	.	.	.	0.223	0.52023	.	.	0.317084106153	0.31322	0.6679455183724466	0.66732	0.0347088691901	0.03653	0.491202026606	0.37605	T	.	.	.	-0.299942	0.08665	T	-0.195661	0.55057	T	0.024951494631161	0.01266	T	0.610439	0.23144	T	.	.	.	.	.	.	.	.	-10.066	0.74306	D	.	.	0.508	0.64961	A	.;.	.;.	2.575787	0.33383	19.32	0.63786348692542427	0.07317	0.80755	0.40312	D	AEFDGBI	0.219621	0.34448	N	-0.316615539543791	0.28517	1.573558	-0.296224608995896	0.28223	1.571886	0.337649845183437	0.19551	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.19	4.0	0.45673	3.009000	0.49239	6.112000	0.53677	0.688000	0.82842	0.998000	0.41325	0.999000	0.35428	0.057000	0.15750	0.8452:0.1548:0.0:0.0	11.176	0.47825	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1730.11	33	chr6	169643735	.	A	C	1730.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=799;ExcessHet=0.1072;FS=1.290;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.386;SOR=0.550	GT:AD:DP:GQ:PL	0/1:30,38:68:99:1011,0,750	19	0	2	0
chr6	169668011	169668011	T	G	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_182552:exon5:c.A631C:p.I211L,	.	.	442	1058	22	0	0	22	0.01029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.011	B	0.01	B	0.413	N	1.000	D	-0.17	N	0.25	T	-1.062	T	0.028	T	0.215	2.468	14.21	-3.24	-0.570	0.513	2.582	0.073	.	0.0050	0.00279553	0.0064	0.0006	0.0013	0.0001	0.0014	0.0081	0.0058	0.0117	0.006009	929	154602	rs41265387	0.0069	0.0069	0.0068	0.0071	0.0104	0.0068	0.0068	0.0099	0.0096	0.0009	0.0016	0.0094	5.038e-05	0.0017	0.0062	0.0076	0.0054	0.0104	0.0044	0.0044	0.0045	0.0044	0.0093	0.0041	0.0040	0.0072	0.0066	0.0010	0.0011	0.0018	0.0107	0	0.0010	0	0.0074	0.0033	0.0093	0.022	0.48642	D	0.003	0.76473	D	.	.	.	.	.	.	0.412623	0.12976	N	0.685094	0.999763	0.48888	D	.	.	.	0.25	0.59449	T	-1.59	0.38345	N	0.433	0.47208	-1.0617	0.11336	T	0.028	0.12014	T	10	0.010516435	0.00234	T	.	.	.	0.073	0.21317	.	.	0.0920862733494	0.08535	0.3853289265288596	0.38447	0.0216781632593	0.02158	0.496599763632	0.38354	T	.	.	.	-0.480738	0.00732	T	-0.453928	0.27263	T	0.0081475625995667	0.00097	T	0.471453	0.13989	T	.	.	.	.	.	.	.	.	-8.103	0.61771	D	.	.	0.254	0.48867	B	.	.	1.134433	0.15214	11.68	0.86944439522738426	0.16880	0.31738	0.24413	N	AEFDBI	0.084421	0.17110	N	-1.23283867193284	0.04531	0.2046774	-1.21622574625296	0.05648	0.269726	0.999285255501367	0.39007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.25	-3.24	0.04779	0.125000	0.15577	-2.347000	0.03869	0.663000	0.56723	0.228000	0.24622	0.000000	0.08366	0.091000	0.17840	0.1234:0.3584:0.1275:0.3907	2.582	0.04527	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	0.04762	4512.11	38	chr6	169668011	.	T	G	4512.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.15;DP=1776;ExcessHet=0.1072;FS=2.106;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.716;SOR=0.804	GT:AD:DP:GQ:PL	0/1:117,94:211:99:2313,0,2875	19	0	2	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,37,27:65:99:.:.:2461,954,2378,1514,0,3495	1	15	4	0
chr6	170561959	170561961	CAG	-	exonic	TBP	.	nonframeshift deletion	TBP:NM_001172085:exon2:c.163_165del:p.Q75del	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	590775	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.758e-05	0.0002	0	0.0004	0	0.0002	3.84e-05	1	26028	rs758734033	0.0057	0.0067	0.0062	0.0053	0.0068	0.0056	0.0056	0.0066	0.0066	0.0031	0.0033	0.0037	0.0019	0.0013	0.0032	0.0068	0.0052	0.0017	0.0040	0.0047	0.0041	0.0040	0.0051	0.0038	0.0037	0.0047	0.0045	0.0039	0	0.0029	0.0056	0.0026	0.0005	0.0037	0.0051	0.0040	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2984.38	127	chr6	170561958	.	ACAG	A,ACAGCAG,GCAG	2984.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=1.95;DP=3232;ExcessHet=0.3300;FS=4.506;InbreedingCoeff=-0.0769;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=9.10;ReadPosRankSum=2.46;SOR=0.951	GT:AD:DP:GQ:PL	0/3:76,0,0,27:103:99:668,1140,6763,1140,6763,6763,0,3916,3916,3789	18	0	1	0
chr6	170561961	170561961	-	CAG	exonic	TBP	.	nonframeshift insertion	TBP:NM_001172085:exon2:c.165_166insCAG:p.Q75_A76insQ	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2984.38	127	chr6	170561958	.	ACAG	A,ACAGCAG,GCAG	2984.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=1.95;DP=3232;ExcessHet=0.3300;FS=4.506;InbreedingCoeff=-0.0769;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=9.10;ReadPosRankSum=2.46;SOR=0.951	GT:AD:DP:GQ:PL	0/3:76,0,0,27:103:99:668,1140,6763,1140,6763,6763,0,3916,3916,3789	18	0	1	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	20125.09	79	chr6	170561961	.	G	GCAA,*,A	20125.09	.	AC=13,1,1;AF=0.406,0.031,0.031;AN=32;BaseQRankSum=0.493;DP=3427;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.5184;MLEAC=15,1,1;MLEAF=0.469,0.031,0.031;MQ=59.97;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.905;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:76,0,0,27:103:99:0|1:170561961_G_*:668,1107,5277,1060,5028,5714,0,3590,3120,3789:170561961	2	1	11	5
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,40:67:99:.:.:2057,1520,3877,0,1052,1478	1	1	3	2
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1014.59	36	chr6	170561967	.	G	*,A	1014.59	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.850;DP=1725;ExcessHet=0.5418;FS=3.273;InbreedingCoeff=0.0735;MLEAC=7,1;MLEAF=0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=2.63;SOR=0.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:62,0,27:89:99:0|1:170561961_G_*:1400,1023,4605,0,2311,3515:170561961	14	1	5	0
chr6	170584545	170584545	A	T	exonic	PDCD2	.	nonsynonymous SNV	PDCD2:NM_001199461:exon1:c.T37A:p.F13I	.	.	456	1065	1	0	0	1	0.000469263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	2.78	M	1.28	T	-0.678	T	0.191	T	0.726	5.211	33	4.79	2.008	6.403	13.426	0.422	.	.	0.000798722	0.0027	0.0263	0	0	.	0.0045	0	0.0017	0.0002975	46	154602	rs548662103	0.0023	0.0020	0.0023	0.0022	0.0026	0.0022	0.0022	0.0025	0.0025	0.0004	0.0006	0.0004	0	0.0005	0.0003	0.0026	0.0015	0.0008	0.0015	0.0015	0.0016	0.0013	0.0027	0.0013	0.0013	0.0024	0.0023	0.0005	0	0.0003	0.0003	0	0.0006	0	0.0027	0.0009	0.0014	0.0	0.91255	D	0.004	0.76473	D	1.0	0.90584	D	0.996	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.12	0.87914	M	1.28	0.35960	T	-4.9	0.86372	D	0.618	0.70351	-0.6779	0.61469	T	0.191	0.54301	T	9	0.009214133	0.00208	T	.	.	.	0.422	0.73078	0.547	0.66156	0.665184242013	0.66237	0.8446486021725239	0.84425	4.31666214769	0.99941	0.928576469421	0.98905	D	0.620075	0.88079	D	-0.197015	0.21236	T	-0.0560556	0.66606	D	0.0981619453388029	0.12154	T	0.835216	0.53103	T	0.8969529	0.91112	0.8773408	0.93376	0.8969529	0.91114	0.8773408	0.93377	-12.015	0.84925	D	.	.	0.778	0.77227	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.350797	0.66821	25.0	0.99013305460965539	0.50420	0.94090	0.60082	D	ALL	0.495507	0.53084	N	0.667756338931557	0.77520	6.690941	0.58637365676453	0.73961	6.056967	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.79	4.79	0.60909	6.086000	0.71002	8.319000	0.76960	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.241000	0.23027	1.0:0.0:0.0:0.0	13.426	0.60475	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	38.99	13	chr6	170584545	.	A	T	38.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.631;DP=400;ExcessHet=0.0000;FS=3.010;InbreedingCoeff=-0.0254;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.33;ReadPosRankSum=-5.490e-01;SOR=1.911	GT:AD:DP:GQ:PL	0/1:7,2:9:53:53,0,203	20	0	1	0
chr7	193659	193659	C	T	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon1:c.C460T:p.P154S,	Raine syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.015	B	0.014	B	0.329	N	1.000	N	1.04	L	-2.14	D	-0.747	T	0.419	T	0.11	0.780	8.119	4.15	1.113	.	8.856	0.103	0.58502017528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.11957	T	0.814	0.03898	T	0.015	0.17086	B	0.014	0.16862	B	0.329427	0.14138	N	0.510906	1	0.08975	N	.	.	.	-2.14	0.86415	D	-1.28	0.32185	N	0.059	0.03069	-0.7470	0.58092	T	0.419	0.76476	T	10	0.096735716	0.17372	T	0.58502	0.96294	D	0.103	0.29403	0.327	0.31034	0.143184338766	0.13958	0.33149939877040635	0.33062	0.480749730577	0.47089	0.808349609375	0.83240	D	0.006876	0.06306	T	-0.116768	0.33653	T	-0.405505	0.32744	T	0.0791817605495453	0.09881	T	0.444056	0.12368	T	0.089118876	0.20811	0.10125384	0.24234	0.089118876	0.20811	0.10125384	0.24233	-4.367	0.29106	T	.	.	0.070	0.03552	B	.	.	1.206639	0.15994	12.24	0.90831334696941668	0.20080	0.12782	0.17476	N	AEFDBCI	0.085235	0.17277	N	-0.839622410800608	0.12305	0.5990356	-0.810607329392825	0.14239	0.7429573	0.999999675019534	0.74766	0.766844	0.99359	0	0.547309	0.14657	0	0.851219	0.99655	0	0.627883	0.49187	0	.	.	5.03	4.15	0.47978	0.034000	0.13663	0.950000	0.22916	0.501000	0.22741	0.000000	0.06391	0.002000	0.18203	0.015000	0.10482	0.0:0.8235:0.0:0.1765	8.856	0.34386	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	640.98	34	chr7	193659	.	C	T	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.129;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-9.020e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:22,24:46:99:655,0,600	20	0	1	0
chr7	2513251	2513251	-	GATG	exonic	LFNG	.	frameshift insertion	LFNG:NM_001166355:exon2:c.142_143insGATG:p.E56Gfs*2,	.	.	6	688	570	158	100	986	0.391689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	18008.05	36	chr7	2513247	.	AGATG	AGATGGATG,A	18008.05	.	AC=8,2;AF=0.190,0.048;AN=42;BaseQRankSum=1.07;DP=1568;ExcessHet=1.5138;FS=0.554;InbreedingCoeff=-0.0500;MLEAC=8,2;MLEAF=0.190,0.048;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=-8.200e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/1:34,48,0:82:99:1899,0,1244,2002,1388,3390	12	0	7	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,25,0:47:99:.:.:631,0,515,695,590,1285	0	6	14	0
chr7	5741572	5741572	T	G	exonic	RNF216	.	nonsynonymous SNV	RNF216:NM_207111:exon4:c.A445C:p.S149R	Cerebellar ataxia and hypogonadotropic hypogonadism, Autosomal recessive	.	432	1085	5	0	0	5	0.00229885	.	.	655795	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.87	T	0.0	B	0.002	B	0.359	N	1.000	N	0.805	L	0.99	T	-1.005	T	0.056	T	0.064	1.235	10.01	3.28	1.125	1.135	5.967	0.018	.	.	0.00219649	0.0015	0	0.0002	0	0	7.492e-05	0.0022	0.0106	0.0012678	196	154602	rs558822123	0.0007	0.0007	0.0004	0.0010	0.0109	0.0007	0.0006	0.0103	0.0101	0	8.944e-05	0	2.519e-05	0	0.0010	1.799e-05	0.0008	0.0109	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.407e-05	0	0	0	0	0	0.0034	2.941e-05	0.0009	0.0114	1.0	0.02327	T	0.243	0.24193	T	0.0	0.02946	B	0.002	0.06944	B	0.358609	0.13704	N	0.731501	0.999915	0.19599	N	-0.06	0.04898	N	0.95	0.43279	T	-0.23	0.10656	N	0.096	0.11912	-1.0051	0.28427	T	0.056	0.23753	T	10	0.0020068586	0.00028	T	.	.	.	0.018	0.03083	0.153	0.05648	0.21279746466	0.20884	0.09707152617461898	0.09638	0.0287149310921	0.02955	0.283838748932	0.08033	T	0.024812	0.18678	T	-0.640136	0.00083	T	-0.682893	0.06808	T	0.00869936997550139	0.00107	T	0.754325	0.37688	T	0.03808847	0.05009	0.048504848	0.07219	0.04031662	0.05732	0.05293437	0.08818	-4.216	0.26997	T	.	.	0.089	0.12228	B	.;.	.;.	1.877120	0.23844	16.17	0.97083381155228787	0.32289	0.53657	0.29425	D	AEFDGBI	0.069843	0.13842	N	-0.654647483151696	0.17326	0.890543	-0.514929055335291	0.21748	1.177943	0.939307442541245	0.27381	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	3.28	0.36691	1.029000	0.29747	2.757000	0.34577	0.665000	0.62972	0.272000	0.25065	0.988000	0.31051	0.992000	0.67800	0.1454:0.0776:0.0:0.777	5.967	0.18565	728	0.54609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2451.98	37	chr7	5741572	.	T	G	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.843e+00;DP=946;ExcessHet=0.0000;FS=2.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-1.710e-01;SOR=0.531	GT:AD:DP:GQ:PL	0/1:88,100:188:99:2466,0,2375	20	0	1	0
chr7	5977677	5977677	G	T	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon12:c.C2038A:p.L680M	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	.	3	1500	18	1	0	20	0.00662252	.	.	152135	not_specified|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome_4|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided	MedGen:CN169374|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221562|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.875	P	0.612	P	0.001	D	1.000	D	1.625	L	-1.25	T	-0.313	T	0.443	T	0.346	2.287	13.60	2.71	0.792	2.791	8.409	0.183	0.079108534385	.	0.00179712	0.0013	0	0.0003	0.0001	0	4.587e-05	0.0011	0.0088	0.0010414	161	154602	rs576055272	0.0007	0.0007	0.0004	0.0010	0.0099	0.0007	0.0006	0.0094	0.0091	3.005e-05	8.953e-05	0	7.603e-05	0	0.0014	9.753e-05	0.0005	0.0099	0.0003	0.0004	0.0001	0.0005	0.0085	0.0002	0.0002	0.0064	0.0057	4.883e-05	0	6.616e-05	0	0	0	0	2.967e-05	0	0.0085	0.113	0.39097	T	0.236	0.27943	T	0.708	0.48103	P	0.612	0.51145	P	0.000660	0.42656	D	0.159962	0.999896	0.54805	D	2.405	0.69568	M	-1.25	0.79072	T	-1.09	0.29323	N	0.404	0.47949	-0.3130	0.74620	T	0.443	0.78057	T	10	0.014594287	0.00307	T	0.079109	0.73159	D	0.381	0.69863	0.703	0.83962	0.775873742492	0.77381	0.6712287808671197	0.67060	2.88529838353	0.99071	0.697431862354	0.66773	T	0.117806	0.43816	T	-0.30993	0.07753	T	-0.211855	0.53518	T	0.0270175553033138	0.01546	T	0.79622	0.45008	T	0.1333054	0.31011	0.13922463	0.33227	0.12227543	0.28736	0.10825066	0.26072	-10.052	0.79472	D	0.3203664013593527	0.41848	0.211	0.45520	B	.;.;.;.;.;.	.;.;.;.;.;.	3.386400	0.46868	22.4	0.98301176528024992	0.40049	0.91240	0.53135	D	AEFDGBI	0.330356	0.43042	N	-0.138962391370679	0.35706	2.054319	-0.0400214752297801	0.37925	2.227243	0.00352193332976808	0.10159	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.75	2.71	0.31092	2.861000	0.48079	5.513000	0.48803	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.153:0.0:0.6948:0.1522	8.409	0.31791	889	0.27310	MutL, C-terminal, dimerisation|MutL, C-terminal, dimerisation;MutL, C-terminal, dimerisation|MutL, C-terminal, dimerisation;MutL, C-terminal, dimerisation|MutL, C-terminal, dimerisation;MutL, C-terminal, dimerisation|MutL, C-terminal, dimerisation;MutL, C-terminal, dimerisation|MutL, C-terminal, dimerisation;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	3346.98	35	chr7	5977677	.	G	T	3346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.384e+00;DP=1052;ExcessHet=0.0000;FS=2.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.58;MQRankSum=-3.973e+00;QD=9.59;ReadPosRankSum=1.37;SOR=0.863	GT:AD:DP:GQ:PL	0/1:201,148:349:99:3361,0,5170	20	0	1	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:22,6,0,0,0,0,0:30:99:193,0,886,251,914,1176,251,914,1176,1176,251,914,1176,1176,1176,251,914,1176,1176,1176,1176,251,914,1176,1176,1176,1176,1176	1	3	5	0
chr7	12370298	12370298	C	T	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001346972:exon10:c.G1663A:p.E555K	.	.	431	1059	31	1	0	33	0.0153417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.039	B	0.017	B	.	.	0.774	N	0.205	N	-1.67	D	-0.669	T	0.240	T	0.415	1.126	9.590	3.0	0.582	2.759	10.462	0.322	.	.	0.00379393	0.0066	0.0005	0.0049	0.0016	0.0012	0.0074	0.0125	0.0086	0.0015459	239	154602	rs143911862	0.0029	0.0028	0.0026	0.0032	0.0116	0.0028	0.0028	0.0093	0.0085	0.0003	0.0039	0.0138	0	0.0014	0.0116	0.0024	0.0035	0.0086	0.0028	0.0028	0.0026	0.0029	0.0116	0.0026	0.0025	0.0092	0.0083	0.0003	0	0.0022	0.0153	0.0002	0.0014	0.0068	0.0036	0.0038	0.0116	0.09	0.31987	T	0.08	0.41913	T	0.039	0.21116	B	0.017	0.18140	B	.	.	.	.	0.77401	0.29406	N	1.04	0.26193	L	-1.67	0.82806	D	-2.02	0.46503	N	0.19	0.20793	-0.6688	0.61883	T	0.240	0.60774	T	9	0.0066004694	0.00149	T	.	.	.	0.322	0.64420	.	.	0.186928172975	0.18263	0.7548996032372176	0.75436	.	.	0.378689438105	0.22071	T	0.028523	0.21822	T	-0.318002	0.07062	T	-0.222883	0.52459	T	0.0109911486523448	0.00158	T	0.726827	0.34315	T	0.08474436	0.19628	0.12793154	0.30786	0.08474436	0.19628	0.12793154	0.30785	-3.349	0.14378	T	.	.	0.101	0.17445	B	.;.	.;.	1.978526	0.25134	16.65	0.98594954265273849	0.43427	0.93949	0.59660	D	AEFDGBCI	0.406151	0.47875	N	-0.60383594813881	0.18829	0.9806567	-0.473808018450634	0.22879	1.244853	0.973374268578929	0.29450	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.586402	0.36253	0	.	.	4.93	3.0	0.33773	3.000000	0.49169	1.241000	0.25107	-0.187000	0.09635	0.996000	0.39380	0.898000	0.27928	0.485000	0.28678	0.0:0.8301:0.0:0.1699	10.462	0.43772	834	0.38640	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2398.98	41	chr7	12370298	.	C	T	2398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.183;DP=1247;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-9.500e-02;SOR=0.624	GT:AD:DP:GQ:PL	0/1:82,94:176:99:2413,0,1972	20	0	1	0
chr7	21429488	21429490	CTC	-	exonic	SP4	.	nonframeshift deletion	SP4:NM_001326542:exon3:c.272_274del:p.P93del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0.0002	8.64e-05	0	0	5.993e-05	0	0.0008	0.0001294	20	154602	rs758579105	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0.0001	4.472e-05	0	5.038e-05	0	0	0.0001	8.279e-05	0.0010	9.21e-05	9.196e-05	6.429e-05	0.0001	0.0006	5.534e-05	4.37e-05	0.0002	9.003e-05	0.0001	0	6.552e-05	0	0	0	0	5.882e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3590.94	44	chr7	21429487	.	ACTC	A	3590.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.450e-01;DP=1246;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.60;ReadPosRankSum=-2.950e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/1:109,95:204:99:3605,0,4265	20	0	1	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,124,0:124:99:.:.:3943,372,0,3943,372,3943	0	18	1	0
chr7	27827745	27827745	A	G	exonic	TAX1BP1	.	nonsynonymous SNV	TAX1BP1:NM_001362795:exon14:c.A1772G:p.E591G	.	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.518	P	0.114	B	0.010	N	1.000	N	0.84	L	2.8	T	-1.056	T	0.050	T	0.089	1.981	12.58	4.71	1.133	4.885	6.711	0.054	0.0100391378195	.	0.00119808	0.0009	0.0002	0.0004	0	0	5.998e-05	0.0044	0.0058	0.0007568	117	154602	rs557561150	0.0005	0.0005	0.0003	0.0007	0.0060	0.0004	0.0004	0.0056	0.0054	0.0002	0.0002	0	0	0	0.0023	0.0001	0.0005	0.0060	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	0.0003	0	0.0002	0	0	0.0002	0	0.0079	0.133	0.26409	T	0.326	0.20422	T	0.003	0.27003	B	0.004	0.31755	B	0.010281	0.29986	N	0.229900	0.999971	0.18612	N	1.1	0.28011	L	2.76	0.34452	T	-1.67	0.43524	N	0.253	0.33030	-1.0558	0.12829	T	0.050	0.21222	T	10	0.0037594736	0.00070	T	0.010039	0.26102	T	0.054	0.15330	.	.	0.52991035303	0.52639	0.19708113009405367	0.19625	0.27360457221	0.29856	0.359190165997	0.19268	T	0.134693	0.46609	T	-0.550393	0.00290	T	-0.561182	0.16267	T	0.0307653312747144	0.02108	T	0.859214	0.55237	D	0.04913051	0.08677	0.06017375	0.11416	0.04913051	0.08676	0.06017375	0.11416	-4.464	0.30414	T	.	.	0.070	0.10642	B	.;.;.;.;.;.	.;.;.;.;.;.	3.336400	0.45955	22.2	0.99398469161555514	0.62702	0.96687	0.70405	D	AEFBI	0.784441	0.71513	D	-0.208811591779282	0.32771	1.851958	-0.0836054969567901	0.36067	2.094313	0.988689451905778	0.31595	0.732398	0.92422	0	0.709663	0.81188	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.87	4.71	0.59010	4.189000	0.58156	9.245000	0.79449	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.7925:0.0:0.0713:0.1362	6.711	0.22466	502	0.75873	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	604.98	33	chr7	27827745	.	A	G	604.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=758;ExcessHet=0.0000;FS=0.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.66;ReadPosRankSum=-8.840e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:52,27:79:99:619,0,1376	20	0	1	0
chr7	36420622	36420622	T	G	exonic	ANLN	.	nonsynonymous SNV	ANLN:NM_001284301:exon11:c.T1930G:p.F644V	Focal segmental glomerulosclerosis 8, Autosomal dominant	.	438	1079	4	1	0	6	0.00277264	.	.	2092851	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.78	T	0.002	B	0.002	B	0.010	N	0.990	D	1.245	L	2.9	T	-0.961	T	0.015	T	0.24	0.833	8.362	-1.16	-0.137	0.192	3.186	0.058	0.00447428479639	7.7e-05	.	0.0002	0	0.0002	0	0	4.502e-05	0	0.0011	0.0001488	23	154602	rs370654620	7.254e-05	7.319e-05	4.222e-05	0.0001	0.0011	6.116e-05	5.702e-05	0.0009	0.0008	0	2.236e-05	0	0	0	0.0003	5.398e-06	4.969e-05	0.0011	3.286e-05	3.284e-05	1.285e-05	5.382e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.641	0.05357	T	0.588	0.08565	T	0.0	0.02946	B	0.0	0.04355	B	0.009537	0.30318	N	0.416481	0.990332	0.41137	D	0.84	0.21119	L	2.89	0.10196	T	-1.45	0.35792	N	0.171	0.22486	-0.9610	0.38993	T	0.015	0.05946	T	10	0.02364695	0.00625	T	0.004474	0.10969	T	0.058	0.16647	.	.	0.259504319725	0.25562	0.21438031735789595	0.21354	0.168993551176	0.19054	0.317308038473	0.13012	T	0.064807	0.32529	T	-0.312104	0.07564	T	-0.603227	0.12541	T	0.0649137571454048	0.07918	T	0.744526	0.36463	T	0.042576034	0.06484	0.043611217	0.05463	0.044395197	0.07090	0.04272601	0.05155	-7.103	0.54782	T	0.13519274680703292	0.14672	0.075	0.07130	B	.;.	.;.	1.684135	0.21463	15.21	0.7685038324995852	0.11634	0.65610	0.32795	D	AEFGBHCI	0.091531	0.18538	N	-0.762548630913572	0.14295	0.7108938	-0.623732895263994	0.18884	1.010783	0.905598195567892	0.26208	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	-1.16	0.09181	0.187000	0.16806	0.320000	0.17174	-0.157000	0.11712	0.987000	0.36337	0.984000	0.30665	0.993000	0.69303	0.2222:0.0621:0.3369:0.3789	3.186	0.06208	658	0.62094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1444.98	33	chr7	36420622	.	T	G	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.690e-01;DP=846;ExcessHet=0.0000;FS=3.117;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.499;SOR=0.910	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1459,0,1614	20	0	1	0
chr7	39339990	39339990	C	T	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.C947T:p.P316L	.	.	13	1488	21	0	0	21	0.00700701	.	.	750624	POU6F2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.998	D	0.000	N	1.000	D	1.735	L	0.91	T	-0.058	T	0.789	D	0.57	3.383	17.41	4.24	1.888	4.454	16.622	0.360	0.186887782839	0.0004	0.00119808	0.0009	0	0.0005	0	0	0.0004	0	0.0050	0.0007956	123	154602	rs140579551	0.0005	0.0005	0.0004	0.0007	0.0049	0.0005	0.0005	0.0045	0.0043	2.99e-05	0.0003	0.0048	2.521e-05	0	0.0042	0.0001	0.0007	0.0049	0.0004	0.0004	0.0003	0.0005	0.0048	0.0003	0.0003	0.0033	0.0028	0	0	0.0004	0.0037	0.0002	0	0	0.0002	0.0005	0.0048	0.002	0.91255	D	0.018	0.66756	D	1.0	0.90584	D	0.995	0.88582	D	0.000000	0.00162	N	38.749600	0.999991	0.58761	D	0.895	0.22405	L	0.91	0.87910	T	-2.36	0.68178	N	0.572	0.68603	-0.0577	0.81042	T	0.789	0.92843	D	10	0.0104005635	0.00232	T	0.186888	0.85904	D	0.360	0.68052	.	.	0.944785693014	0.94420	0.4494868403030696	0.44866	0.12945880337	0.14595	0.710781097412	0.68706	T	0.381144	0.74352	T	-0.198564	0.21012	T	-0.056634	0.66565	D	0.0583975139153932	0.06913	T	0.934007	0.75281	D	0.27540636	0.50604	0.3132593	0.57324	0.2842961	0.51457	0.3352743	0.59343	-4.889	0.35611	T	0.1709959771602053	0.21531	0.102	0.32969	B	.;.;.;.;.	.;.;.;.;.	4.519271	0.70844	25.6	0.99677032777020813	0.78977	0.96149	0.67757	D	AEFDBI	0.698710	0.65630	D	0.538923182564204	0.69409	5.352951	0.496279600837992	0.67743	5.125052	0.985010285847895	0.30813	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	4.24	4.24	0.49486	4.676000	0.61317	4.718000	0.44490	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.622	0.84784	871	0.31377	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	396.98	35	chr7	39339990	.	C	T	396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=725;ExcessHet=0.0000;FS=5.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-1.355e+00;SOR=1.927	GT:AD:DP:GQ:PL	0/1:20,16:36:99:411,0,494	20	0	1	0
chr7	41690110	41690110	C	T	exonic	INHBA	.	nonsynonymous SNV	INHBA:NM_002192:exon3:c.G821A:p.G274E,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.29	B	0.353	B	0.095	N	1.000	N	0	N	-1.17	T	-0.856	T	0.226	T	0.229	2.543	14.46	1.62	0.291	0.784	6.630	0.113	0.0852435035895	.	0.00139776	0.0010	0	0	0	0	0	0.0033	0.0070	0.0008215	127	154602	rs569482596	0.0004	0.0004	0.0002	0.0006	0.0071	0.0004	0.0004	0.0067	0.0065	5.974e-05	0	0	2.519e-05	0	0.0003	8.993e-07	0.0004	0.0071	0.0002	0.0002	0.0002	0.0003	0.0071	0.0002	0.0001	0.0052	0.0045	2.408e-05	0	0	0	0	0	0	0	0	0.0071	0.031	0.45039	D	0.022	0.57587	D	0.29	0.32311	B	0.353	0.42910	B	0.095082	0.20140	N	0.411149	0.999999	0.08975	N	0.695	0.17993	N	-1.17	0.78199	T	-0.25	0.11008	N	0.282	0.35408	-0.8560	0.51548	T	0.226	0.59020	T	10	0.0077072084	0.00175	T	0.085244	0.74492	D	0.113	0.31778	0.413	0.45052	0.584649576685	0.58138	0.4110953307297081	0.41025	1.07121117381	0.76816	0.464131623507	0.33877	T	0.331554	0.70161	T	-0.401331	0.02269	T	-0.346093	0.39653	T	0.0302777410490888	0.02032	T	0.49935	0.15589	T	0.071012765	0.15689	0.086830355	0.20142	0.071012765	0.15688	0.086830355	0.20142	-2.917	0.09314	T	.	.	0.074	0.04932	B	.;.;.	.;.;.	2.913759	0.38662	20.8	0.95966129871247874	0.28314	0.30795	0.24174	N	AEFBCI	0.121629	0.23638	N	-0.783813427030066	0.13731	0.6785982	-0.730490036399754	0.16203	0.8560286	0.999686208794456	0.41756	0.706548	0.73137	0	0.588015	0.36545	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.96	1.62	0.22817	0.902000	0.28088	2.822000	0.34969	0.549000	0.26987	0.806000	0.29799	0.982000	0.30508	0.699000	0.34110	0.0:0.4548:0.1717:0.3736	6.630	0.22044	861	0.33516	TGF-beta, propeptide;TGF-beta, propeptide;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	1	0	0	0	0.02381	3549.98	33	chr7	41690110	.	C	T	3549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=900;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.51;ReadPosRankSum=0.154;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,92:182:99:0|1:41690110_C_T:3564,0,3416:41690110	20	0	1	0
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,71,0:138:99:.:.:1886,0,1826,2087,2038,4125	8	5	7	0
chr7	45084224	45084224	T	0	exonic	NACAD	.	.	.	.	.	705	684	53	24	56	157	0.0687543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	773.64	33	chr7	45084224	.	T	A,*	773.64	.	AC=3,4;AF=0.136,0.182;AN=22;BaseQRankSum=1.67;DP=1143;ExcessHet=0.4362;FS=6.611;InbreedingCoeff=0.0073;MLEAC=5,6;MLEAF=0.227,0.273;MQ=47.16;MQRankSum=-4.237e+00;QD=1.81;ReadPosRankSum=-1.513e+00;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,13,0:46:99:.:.:270,0,817,368,856,1224	5	1	1	10
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.015	B	0.801	N	1.000	N	1.43	L	2.05	T	-0.987	T	0.034	T	0.157	1.299	10.25	-2.48	-0.557	-1.200	0.856	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,22,11:104:99:.:.:329,0,1746,282,1793,2253	5	0	7	7
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.325	B	0.037	B	0.801	N	1.000	N	1.43	L	1.99	T	-1.014	T	0.032	T	0.13	3.478	17.80	-2.48	-0.557	-1.200	0.856	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,22,11:104:99:.:.:329,0,1746,282,1793,2253	5	0	7	7
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:71,17,17:105:61:.:.:207,61,1957,0,1706,1921	0	0	17	1
chr7	64978605	64978608	GTCA	-	exonic	ERV3-1-ZNF117;ZNF117	.	frameshift deletion	ERV3-1-ZNF117:NM_001348050:exon4:c.963_966del:p.D322Ifs*31	.	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000599042	0.0007	0.0003	0	0	0.0002	0.0003	0	0.0035	0.0005757	89	154602	rs535488637	0.0004	0.0004	0.0003	0.0005	0.0034	0.0003	0.0003	0.0031	0.0030	0.0001	0	0	0	0.0001	0	0.0002	0.0001	0.0034	0.0003	0.0003	0.0003	0.0002	0.0019	0.0002	0.0002	0.0010	0.0007	0.0003	0	0	0	0	9.441e-05	0	0.0003	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2256.94	61	chr7	64978604	.	GGTCA	G	2256.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.753e+00;DP=1237;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.13;ReadPosRankSum=0.499;SOR=0.761	GT:AD:DP:GQ:PL	0/1:59,59:118:99:2271,0,2296	20	0	1	0
chr7	74779296	74779296	G	A	exonic	NCF1	.	nonsynonymous SNV	NCF1:NM_000265:exon4:c.G269A:p.R90H,	Chronic granulomatous disease due to deficiency of NCF-1, Autosomal recessive	YES	2	1502	14	4	0	22	0.00727032	.	.	1287300	Granulomatous_disease,_chronic,_X-linked|not_provided|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_1	MONDO:MONDO:0010600,MedGen:C1844376,OMIM:306400,Orphanet:379|MedGen:C3661900|MONDO:MONDO:0009309,MedGen:C1856251,OMIM:233700,Orphanet:379	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.786	P	0.172	B	0.000	D	1.000	D	3.635	H	-2.17	D	0.565	D	0.668	D	0.652	3.318	17.16	3.38	1.631	7.168	14.142	0.794	0.474966757152	.	.	0.0010	0.0023	0.0005	0.0035	0.0010	0.0008	0.0024	0.0004	0.0009896	153	154602	rs201802880	0.0002	0.0008	8.33e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0.0003	0.0001	0	0.0011	0.0002	0.0002	1.53e-05	0.0001	0.0015	0.0005	0.0026	0.0004	0.0005	0.0011	0.0004	0.0003	0.0008	0.0007	0.0011	0	0.0003	0.0003	0.0004	9.87e-05	0	0.0001	0.0020	0.0011	0.029	0.45756	D	0.002	0.79402	D	0.786	0.44460	P	0.172	0.35394	B	0.000003	0.62929	D	0.051113	1	0.81001	D	3.335	0.90898	M	-2.17	0.86624	D	-4.24	0.76015	D	0.672	0.67995	0.565	0.91440	D	0.668	0.88490	D	10	0.066622585	0.09164	T	0.474967	0.94744	D	0.794	0.93227	.	.	0.916221141918	0.91538	0.8084570979808826	0.80800	.	.	0.641775965691	0.58817	T	0.442933	0.78691	T	0.215827	0.75381	D	0.0722445	0.75060	D	0.105522214803748	0.12953	T	0.79652	0.44001	T	0.65046906	0.75389	0.49485186	0.70785	0.65046906	0.75390	0.49485186	0.70785	-11.335	0.81463	D	0.6315129122151859	0.70097	0.334	0.55521	B	.	.	4.519268	0.70844	25.6	0.99859784191756595	0.93820	0.96319	0.68558	D	AEFI	0.904555	0.85500	D	0.309306367838002	0.56624	3.82752	0.28228216539751	0.54503	3.615292	0.99180166495867	0.32614	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	7.271000	0.77894	9.449000	0.80847	0.557000	0.28285	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.0:0.0:1.0:0.0	14.142	0.64858	958	0.09170	Phox homologous domain|Phox homologous domain|Phox homologous domain|Neutrophil cytosol factor 1, PX domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	59.1	49	chr7	74779296	.	G	A	59.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.63;DP=870;ExcessHet=0.1072;FS=47.612;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=45.14;MQRankSum=-5.209e+00;QD=0.33;ReadPosRankSum=-2.007e+00;SOR=5.714	GT:AD:DP:GQ:PL	0/1:68,9:77:38:38,0,1711	19	0	2	0
chr7	75441099	75441099	T	A	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon5:c.A82T:p.S28C,	.	.	435	1064	23	0	0	23	0.0106927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.846	P	0.673	N	1.000	N	1.67	L	3.57	T	-1.043	T	0.073	T	0.219	1.810	12.01	-0.241	0.109	0.155	3.087	0.017	0.011500902084	0.0025	0.000998403	0.0031	0.0003	0.0010	0	0.0012	0.0031	0.0033	0.0083	0.0029883	462	154602	rs200580506	0.0038	0.0038	0.0038	0.0038	0.0092	0.0037	0.0037	0.0087	0.0085	0.0004	0.0011	0.0003	2.519e-05	0.0018	0.0045	0.0039	0.0039	0.0092	0.0026	0.0026	0.0024	0.0028	0.0081	0.0024	0.0023	0.0061	0.0054	0.0007	0.0011	0.0037	0.0003	0	0.0008	0.0068	0.0037	0.0033	0.0081	0.022	0.48642	D	0.011	0.64786	D	0.997	0.70673	D	0.846	0.60472	P	0.672774	0.10326	N	0.800095	1	0.08975	N	2.28	0.64929	M	.	.	.	-4.17	0.75456	D	0.36	0.40164	-1.0427	0.16503	T	0.073	0.29675	T	10	0.0052847266	0.00115	T	0.011501	0.29187	T	0.017	0.02790	.	.	0.141422826196	0.13715	0.1468979519249331	0.14611	.	.	0.28328332305	0.07954	T	0.046382	0.27407	T	-0.453359	0.01079	T	-0.41774	0.31336	T	0.050920939457859	0.05661	T	0.579042	0.24084	T	0.10643525	0.25167	0.064794235	0.13040	0.10643525	0.25167	0.064794235	0.13039	-6.12	0.49642	T	.	.	0.094	0.30765	B	.;.;.	.;.;.	3.113433	0.42004	21.5	0.89714575594388579	0.19036	0.10357	0.15886	N	AEFBI	0.038759	0.05532	N	-0.223458958021369	0.32173	1.811602	-0.423229732347967	0.24317	1.330954	0.999398842108212	0.39470	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.27	-0.241	0.12399	0.150000	0.16082	2.241000	0.31611	0.640000	0.52149	0.027000	0.20232	0.776000	0.26740	0.989000	0.64315	0.1784:0.2126:0.0:0.609	3.087	0.05904	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1889.98	35	chr7	75441099	.	T	A	1889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.270e-01;DP=1227;ExcessHet=0.0000;FS=4.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.99;MQRankSum=0.524;QD=13.22;ReadPosRankSum=1.63;SOR=0.413	GT:AD:DP:GQ:PL	0/1:68,75:143:99:1904,0,1778	20	0	1	0
chr7	75989196	75989196	C	T	exonic	TMEM120A	.	nonsynonymous SNV	TMEM120A:NM_001317803:exon4:c.G346A:p.V116I	.	.	431	1084	5	2	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0023	0	0	0.0041	0	9.553e-05	0	0.0059	0.0005239	81	154602	rs531304901	0.0004	0.0004	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0046	0	8.209e-05	0	0.0005	0	0.0023	9.243e-05	0.0005	0.0051	0.0002	0.0002	0.0001	0.0003	0.0034	0.0001	0.0001	0.0020	0.0016	2.622e-05	0	0	0	0.0011	0.0001	0	6.763e-05	0	0.0034	.	.	.	0.156	0.52389	T	0.981	0.59675	D	0.733	0.55393	P	.	.	.	.	.	.	.	2.9	0.83903	M	.	.	.	.	.	.	0.248	0.37509	.	.	.	.	.	.	.	0.009519905	0.00215	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.2224434783727143	0.22159	.	.	0.782080292702	0.79241	T	0.015745	0.32609	T	-0.131711	0.31220	T	0.0393965	0.72888	D	.	.	.	0.883212	0.65969	D	0.07566846	0.17063	0.3451593	0.60203	0.07566846	0.17063	0.3451593	0.60202	-5.943	0.45800	T	.	.	0.137	0.37482	B	.;.;.	.;.;.	4.407067	0.68149	25.2	0.95900469956099166	0.28128	0.96383	0.68870	D	AEFDBIJ	0.838155	0.75571	D	.	.	.	.	.	.	0.999999999933174	0.74766	0.252514	0.04256	0	0.33876	0.05854	1	0.25174	0.05106	0	0.293034	0.05479	0	.	.	3.87	3.87	0.43823	4.294000	0.58840	3.292000	0.37313	0.582000	0.30178	1.000000	0.71638	0.998000	0.33993	0.892000	0.42986	0.0:1.0:0.0:0.0	15.404	0.74588	602	0.67834	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	708.11	34	chr7	75989196	.	C	T	708.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.02;DP=646;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=-7.170e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:20,19:39:99:401,0,444	19	0	2	0
chr7	92517375	92517375	C	G	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_000466:exon5:c.G1140C:p.K380N	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.363	B	0.075	B	0.019	N	1.000	N	1.04	L	-3.4	D	-0.359	T	0.603	D	0.122	0.897	8.644	3.12	0.389	0.619	4.650	0.109	0.0475338403156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.17584	T	0.336	0.25061	T	0.363	0.33965	B	0.075	0.28327	B	0.019306	0.27286	N	0.456434	1	0.08975	N	2.045	0.56016	M	-3.4	0.94469	D	-1.55	0.37566	N	0.155	0.17691	-0.3587	0.73301	T	0.603	0.85889	D	10	0.08887786	0.15343	T	0.047534	0.62965	D	0.109	0.30843	0.401	0.43081	0.716802317414	0.71431	0.3910058426918759	0.39015	0.186505350035	0.20959	0.336459964514	0.15907	T	0.062784	0.36043	T	-0.00308928	0.51229	T	-0.242214	0.50583	T	0.312265932559967	0.25507	T	0.59684	0.22875	T	0.09054874	0.21191	0.05573271	0.09829	0.09054874	0.21190	0.05573271	0.09828	-3.984	0.23563	T	0.11421790710218607	0.10084	0.114	0.29367	B	.;.	.;.	0.689255	0.10580	7.285	0.99365745136551376	0.61198	0.16758	0.19535	N	AEFBI	0.121693	0.23648	N	-0.700700529756348	0.16002	0.8114796	-0.702350992884245	0.16902	0.8963152	0.234847843809107	0.18506	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.94	3.12	0.34986	0.347000	0.19760	0.241000	0.16308	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.697000	0.34049	0.2559:0.5066:0.0:0.2375	4.650	0.11978	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1923	826.23	74	chr7	92517375	.	C	T,G	826.23	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-3.290e+00;DP=1775;ExcessHet=1.1607;FS=208.468;InbreedingCoeff=-0.2780;MLEAC=6,1;MLEAF=0.231,0.038;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=0.648;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,16,7:105:84:.:.:84,0,2463,216,2414,2875	8	0	4	8
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,34:210:99:.:.:128,0,6217	9	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,40:209:99:.:.:188,0,6211	2	0	19	0
chr7	95409919	95409919	T	C	exonic	PON2	.	nonsynonymous SNV	PON2:NM_000305:exon6:c.A677G:p.N226S	.	.	437	1077	7	1	0	9	0.00416089	.	.	921467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.085	B	0.051	B	0.002	N	0.730	N	1.545	L	1.07	T	-1.031	T	0.069	T	0.044	0.219	5.179	-1.86	-0.180	0.650	6.006	0.044	0.00923354947888	.	0.00179712	0.0013	9.615e-05	0.0007	0	0	0.0001	0.0011	0.0084	0.0011255	174	154602	rs200897774	0.0007	0.0007	0.0004	0.0010	0.0097	0.0006	0.0006	0.0091	0.0089	0.0002	0.0005	3.828e-05	7.562e-05	0	0.0024	3.958e-05	0.0009	0.0097	0.0003	0.0003	0.0003	0.0004	0.0075	0.0003	0.0002	0.0055	0.0049	0.0001	0	0.0003	0	0	0	0	5.88e-05	0	0.0075	0.197	0.21144	T	0.184	0.35840	T	0.085	0.24868	B	0.051	0.25434	B	0.001927	0.37643	N	0.314375	0.730056	0.29838	N	0.965	0.23975	L	1.07	0.39586	T	-1.75	0.41428	N	0.194	0.21969	-1.0308	0.20195	T	0.069	0.28346	T	10	0.008585423	0.00194	T	0.009234	0.24249	T	0.044	0.11924	.	.	0.136095386433	0.13204	0.4477565924489617	0.44693	0.0750845404494	0.08422	0.294665873051	0.09609	T	0.275185	0.64771	T	-0.617057	0.00115	T	-0.653868	0.08685	T	0.00671209480234248	0.00075	T	0.79972	0.46414	T	0.061354306	0.12694	0.07400366	0.16143	0.061354306	0.12693	0.07400366	0.16143	-6.134	0.47387	T	.	.	0.054	0.00321	B	.;.;.;.	.;.;.;.	0.905215	0.12791	9.310	0.91435941211512672	0.20704	0.77254	0.37963	D	AEFBI	0.241856	0.36341	N	-0.644767521248969	0.17612	0.9077851	-0.620694263231787	0.18962	1.015291	0.999714150713502	0.42101	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.62	-1.86	0.07340	0.470000	0.21795	-2.928000	0.03221	-0.123000	0.13640	0.999000	0.42656	0.000000	0.08366	0.879000	0.42020	0.0:0.3391:0.2472:0.4137	6.006	0.18775	845	0.36510	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1930.11	33	chr7	95409919	.	T	C	1930.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.842;DP=839;ExcessHet=0.1072;FS=1.150;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.513;SOR=0.809	GT:AD:DP:GQ:PL	0/1:67,42:109:99:929,0,1608	19	0	2	0
chr7	100097304	100097304	G	A	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon9:c.C670T:p.R224C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.605	H	2.68	T	-0.243	T	0.213	T	0.96	3.168	16.60	4.97	2.576	4.020	15.786	0.567	0.0692041261141	.	.	8.257e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs751951140	6.841e-06	6.84e-06	5.446e-06	8.251e-06	3.478e-05	3.46e-06	2.52e-06	9.24e-06	4.56e-06	2.987e-05	2.236e-05	0	2.519e-05	0	0	3.598e-06	0	3.478e-05	6.576e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.735	0.99541	H	2.68	0.12371	T	-7.46	0.95246	D	0.931	0.94196	-0.2435	0.76535	T	0.213	0.57388	T	10	0.97620755	0.97399	D	0.069204	0.70664	D	0.567	0.82346	0.895	0.97551	0.735064413055	0.73270	0.8550119253027142	0.85464	0.70934118667	0.61621	0.861420631409	0.91321	D	0.424213	0.77472	T	0.174183	0.71508	D	0.10928	0.77527	D	0.999736726284027	0.98729	D	0.999758	0.99944	D	0.826379	0.85652	0.8117977	0.89014	0.826379	0.85654	0.8117977	0.89015	-13.299	0.91038	D	0.8225686464243653	0.89525	0.670	0.82349	P	.;.;.	.;.;.	5.057284	0.84268	28.3	0.99930594590364741	0.99334	0.96331	0.68616	D	AEFDBHCI	0.803148	0.72837	D	0.872102097427494	0.90327	10.35442	0.701293106490905	0.82475	7.776669	0.999999998227694	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.97	4.97	0.65419	3.439000	0.52642	8.570000	0.77602	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.455000	0.28006	0.0:0.0:1.0:0.0	15.786	0.78072	182	0.92924	.;.;MCM domain|MCM domain|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1902.98	33	chr7	100097304	.	G	A	1902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.054;DP=844;ExcessHet=0.0000;FS=1.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.330;SOR=0.818	GT:AD:DP:GQ:PL	0/1:70,77:147:99:1917,0,1653	20	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,27:91:99:.:.:206,0,1647	0	0	21	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,58,55:113:99:0|1:100773851_A_G:4750,1687,1383,1725,0,1447:100773851	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,55,57:112:99:0|1:100773849_CCAT_C:4722,1692,1376,1690,0,1389:100773849	0	11	5	0
chr7	100952482	100952482	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A703G:p.S235G,	.	.	399	1114	9	0	0	9	0.00402325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	.	.	0.345	N	.	.	-0.993	T	0.063	T	0.131	0.622	7.348	0.393	0.097	0.439	4.798	0.049	.	.	.	0.0094	0.0041	0.0246	0.0565	0.0041	0.0013	0.0047	0.0108	0.0071991	1113	154602	rs762341908	0.0007	0.0043	0.0007	0.0007	0.0128	0.0006	0.0006	0.0118	0.0114	0.0003	0.0039	0	0.0128	0.0010	0.0005	0.0001	0.0009	0.0014	0.0048	0.0059	0.0042	0.0054	0.0568	0.0045	0.0044	0.0514	0.0493	0.0030	0	0.0078	0	0.0568	0.0043	0	0.0011	0.0071	0.0121	0.0	0.91255	D	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.09354	N	.	.	.	-2.14	0.48523	N	0.028	0.00882	-0.9930	0.31827	T	0.063	0.26172	T	5	0.0028196573	0.00045	T	.	.	.	0.049	0.13647	.	.	0.0297737177859	0.01360	0.06476662103955722	0.06415	.	.	.	.	.	.	.	.	-0.224203	0.17424	T	-0.559828	0.16394	T	0.0110277637410068	0.00159	T	0.359064	0.08235	T	0.03313288	0.03473	0.05993371	0.11332	0.03313288	0.03473	0.05993371	0.11331	-4.816	0.34777	T	.	.	0.127	0.27100	B	.;.	.;.	0.382560	0.07547	4.195	0.70278890112480152	0.09244	0.02841	0.07592	N	AEFDBI	0.094914	0.19185	N	-0.810609427635655	0.13038	0.6395816	-0.986195816652993	0.10094	0.5062862	0.998344668229717	0.36796	0.538715	0.22204	0	0.596491	0.49125	0	0.78367	0.99111	0	0.663205	0.64265	0	.	.	1.61	0.393	0.15517	0.057000	0.14157	-0.306000	0.10077	-0.825000	0.02924	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.8085:0.0:0.1915:0.0	4.798	0.12651	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	9638.11	417	chr7	100952482	.	A	G	9638.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.270e+00;DP=8868;ExcessHet=0.1072;FS=1.166;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=1.37;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:339,111:450:99:.:.:2356,0,12505	19	0	2	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:403,159,165:727:99:0|1:100952784_C_A:5715,252,16695,0,10246,16425:100952784	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:669,126,0:795:99:0|1:100952784_C_A:3277,0,27712,5291,28091,33382:100952784	6	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:420,63,107:590:99:0|1:100953112_T_A:3229,1848,19294,0,14990,17314:100953112	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:415,104,47:579:99:3118,0,17113,2393,15452,19678	1	0	18	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:396,165,0:682:99:.:.:5981,0,16110,7173,16628,23801	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:690,132,0:822:99:0|1:100953486_C_A:3425,0,28576,5502,28973,34475:100953486	2	0	17	0
chr7	100953716	100953716	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1937T:p.S646F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454143522	4.135e-05	0.0006	3.977e-05	4.281e-05	0.0004	2.405e-05	1.875e-05	0.0001	8.058e-05	0	0	0	3.856e-05	7.857e-05	0	1.017e-05	0.0002	0.0004	0.0019	0.0049	0.0017	0.0021	0.0268	0.0017	0.0017	0.0231	0.0216	0.0010	0	0.0028	0	0.0268	0.0018	0	0.0003	0.0033	0.0065	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.06059	.	.	.	.	.	.	.	0.0052519143	0.00115	T	.	.	.	.	.	.	.	.	.	0.043221190383091725	0.04267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532447	0.17709	T	.	.	.	.	.	.	.	.	-7.134	0.55006	T	.	.	0.272	0.50627	B	.;.	.;.	1.135763	0.15225	11.69	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562000	0.06041	-11.604000	0.00590	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	11569.11	634	chr7	100953716	.	C	T	11569.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.31;DP=15550;ExcessHet=0.1072;FS=2.041;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.28;MQRankSum=1.97;QD=7.50;ReadPosRankSum=-2.230e-01;SOR=0.870	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:622,95:717:99:.:.:1117,0,25014	19	0	2	0
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:577,85,0:662:99:0|1:100954953_T_A:1832,0,23972,3569,24228,27797:100954953	6	0	14	0
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	250.36	306	chr7	100955170	.	G	T,*	250.36	.	AC=3,4;AF=0.075,0.100;AN=40;BaseQRankSum=0.637;DP=7032;ExcessHet=2.5830;FS=10.762;InbreedingCoeff=-0.2103;MLEAC=2,4;MLEAF=0.050,0.100;MQ=58.89;MQRankSum=-1.674e+01;QD=0.10;ReadPosRankSum=-9.590e-01;SOR=1.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,21,0:312:6:0|1:100955155_C_A:6,0,12156,882,12219,13101:100955155	13	0	3	1
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,162,0:523:99:0|1:100955555_C_T:5716,0,14671,6802,15158,21961:100955555	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:359,162,0:521:99:0|1:100955555_C_T:5722,0,14587,6802,15074,21877:100955555	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:895,129,0:1024:99:.:.:1192,0,37195,3201,37549,40521	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:698,84,0:782:99:0|1:100955895_T_A:1426,0,29056,3527,29309,32836:100955895	4	0	15	0
chr7	100956002	100956002	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4223A:p.T1408K,	.	.	737	766	17	2	0	21	0.0135222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031611977	8.417e-05	0.0007	8.521e-05	8.322e-05	0.0004	6e-05	5.198e-05	0.0002	0.0001	0	5.954e-05	0	0	7.546e-05	0	8.937e-05	4.724e-05	0.0004	0.0005	0.0088	0.0005	0.0006	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0006	0.0003	0	0.0013	0	0.0006	0.0010	0.0019	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.06720	.	.	.	.	.	.	.	0.055023044	0.05949	T	.	.	.	.	.	.	.	.	.	0.055842908081126706	0.05525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275372	0.05417	T	.	.	.	.	.	.	.	.	-8.63	0.65287	D	.	.	0.197	0.41947	B	.;.	.;.	0.269045	0.06469	2.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126000	0.10539	-6.448000	0.01396	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1279.11	487	chr7	100956002	.	C	A	1279.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.107e+00;DP=12806;ExcessHet=0.1072;FS=1.824;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.32;MQRankSum=-9.909e+00;QD=1.02;ReadPosRankSum=-1.440e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/1:523,60:583:99:210,0,20919	19	0	2	0
chr7	100958135	100958135	T	0	exonic	MUC3A	.	.	.	.	.	80	0	58	87	1	233	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	24112.57	1331	chr7	100958135	.	T	C,*	24112.57	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=-1.492e+00;DP=16684;ExcessHet=5.3821;FS=1.190;InbreedingCoeff=0.0278;MLEAC=20,2;MLEAF=1.00,0.111;MQ=59.22;MQRankSum=-1.577e+00;QD=17.65;ReadPosRankSum=1.06;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,141,0:141:99:.:.:4297,422,0,4297,422,4297	0	3	5	12
chr7	100958300	100958300	-	TACTACCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.6521_6522insTACTACCA:p.R2174Sfs*123,	.	.	1224	42	0	12	244	268	0.222222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0005	0.0025	0.0022	0.0051	0.0019	0.0018	0.0017	0.0015	0.0009	0.0023	0.0021	0.0044	0.0077	0.0051	0.0021	0.0016	0.0015	0.0031	0.0097	0.0041	0.0019	0.0077	0.0018	0.0014	0.0022	0.0016	0.0009	0	0.0077	0.0093	0	0	0	0.0044	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7367.84	690	chr7	100958300	.	G	GTACTACCA,GTACTCCCA,*	7367.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;BaseQRankSum=3.93;DP=11684;ExcessHet=0.9691;FS=59.982;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.77;MQRankSum=-1.937e+00;QD=15.48;ReadPosRankSum=-1.200e+00;SOR=1.401	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:76,84,73,0:233:99:.:.:7482,2948,2733,3307,0,3138,7360,3088,3455,7459	0	0	0	18
chr7	100958300	100958300	G	0	exonic	MUC3A	.	.	.	.	.	218	0	0	4	4	12	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7367.84	690	chr7	100958300	.	G	GTACTACCA,GTACTCCCA,*	7367.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;BaseQRankSum=3.93;DP=11684;ExcessHet=0.9691;FS=59.982;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.77;MQRankSum=-1.937e+00;QD=15.48;ReadPosRankSum=-1.200e+00;SOR=1.401	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:76,84,73,0:233:99:.:.:7482,2948,2733,3307,0,3138,7360,3088,3455,7459	0	0	0	18
chr7	100958301	100958301	G	0	exonic	MUC3A	.	.	.	.	.	1236	33	0	10	243	263	0.232558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7448.84	690	chr7	100958301	.	G	GCTTCATTTCTTTGATAACCACCTC,GCTTCACTTCTTTGATAACCACCTC,*	7448.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11688;ExcessHet=0.9691;FS=59.903;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.59;MQRankSum=-1.621e+00;QD=15.49;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:73,92,73,0:238:99:.:.:7561,2951,2712,3393,0,3233,7441,3087,3544,7541	0	0	0	18
chr7	100958304	100958304	G	0	exonic	MUC3A	.	.	.	.	.	1234	37	0	13	238	264	0.26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	11635.88	690	chr7	100958304	.	G	A,*	11635.88	.	AC=2,2;AF=0.333,0.333;AN=6;DP=11706;ExcessHet=0.9691;FS=19.376;InbreedingCoeff=0.2364;MLEAC=7,7;MLEAF=1.00,1.00;MQ=49.65;MQRankSum=-3.637e+00;QD=21.91;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:13,275,0:288:99:.:.:11630,794,0,11647,819,11672	0	1	0	18
chr7	100958305	100958305	-	ACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.6526_6527insACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA:p.G2176Dfs*68,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0200	0.0006	0.0165	0.0233	0.0342	0.0175	0.0165	0.0214	0.0175	0	0.0048	0.0133	0.0028	0.0486	0.0312	0.0187	0.0291	0.0342	0.0021	0.0022	0	0.0042	0.0062	0.0010	0.0007	0.0011	0.0006	0	0	0.0062	0	0	0	0	0.0028	0	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10738.97	690	chr7	100958305	.	G	GACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,GACCCTGTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,*	10738.97	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11701;ExcessHet=0.9691;FS=26.764;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=49.69;MQRankSum=-5.520e+00;QD=30.42;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:14,69,27,0:115:99:.:.:10736,3027,2457,2734,0,2215,10764,3059,2805,10830	0	0	0	18
chr7	100958305	100958305	G	0	exonic	MUC3A	.	.	.	.	.	1235	37	1	5	244	255	0.129412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10738.97	690	chr7	100958305	.	G	GACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,GACCCTGTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,*	10738.97	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11701;ExcessHet=0.9691;FS=26.764;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=49.69;MQRankSum=-5.520e+00;QD=30.42;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:14,69,27,0:115:99:.:.:10736,3027,2457,2734,0,2215,10764,3059,2805,10830	0	0	0	18
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:350,216,0:566:99:0|1:100960582_T_A:7928,0,13923,8982,14573,23555:100960582	0	0	15	0
chr7	100991161	100991161	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C598A:p.P200T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	.	.	.	.	.	.	1.000	N	0	N	2.48	T	-0.960	T	0.014	T	0.044	0.040	4.219	-0.459	-0.191	0.039	1.695	0.014	0.0146613496799	.	0.000399361	0.0004	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs542581157	4.114e-05	3.899e-05	2.992e-05	5.266e-05	0.0007	3.215e-05	2.936e-05	0.0005	0.0005	0	0	0	0	0	0	9.269e-07	3.442e-05	0.0007	3.284e-05	3.281e-05	2.571e-05	4.029e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.005	0.63226	D	0.526	0.12002	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.48	0.14783	T	-1.1	0.29727	N	0.022	0.00571	-0.9603	0.39124	T	0.014	0.05753	T	7	0.012651235	0.00271	T	0.014661	0.34921	T	0.014	0.01968	0.241	0.17371	0.0401082797425	0.02173	0.010467335753491652	0.01007	.	.	0.447982847691	0.31668	T	0.003344	0.02748	T	-0.685824	0.00044	T	-0.808356	0.01702	T	0.0435098052530811	0.04332	T	0.288971	0.06216	T	0.050712388	0.09204	0.04622014	0.06395	0.050712388	0.09204	0.04622014	0.06395	-7.525	0.57786	D	.	.	0.112	0.21877	B	.;.	.;.	-0.437398	0.02077	0.192	0.91747773281377143	0.21047	0.00306	0.01624	N	AEFBI	0.031621	0.03417	N	-1.07719999187218	0.07065	0.3271081	-1.24464749163666	0.05211	0.2477409	1.30588786929695E-5	0.02871	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.713	-0.459	0.11571	-1.519000	0.02347	-6.575000	0.01361	-1.486000	0.01052	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3229:0.4061:0.0:0.271	1.695	0.02688	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4281.98	39	chr7	100991161	.	C	A	4281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.155e+00;DP=1476;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.973;QD=11.96;ReadPosRankSum=-7.880e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:185,173:358:99:4296,0,4924	20	0	1	0
chr7	100991611	100991611	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G1048A:p.A350T,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	0	N	2.65	T	-0.945	T	0.012	T	0.035	-0.374	2.241	0.637	0.653	-0.967	4.531	0.029	.	.	.	0.0671	0.0553	0.0207	0.0579	0.0992	0.0780	0.0588	0.0542	0.0001153	3	26028	rs201384124	0.0010	0.0017	0.0010	0.0011	0.0013	0.0010	0.0010	0.0010	0.0010	0.0003	0.0004	0.0022	0.0002	0.0001	0.0013	0.0011	0.0014	0.0011	0.0013	0.0014	0.0014	0.0012	0.0025	0.0011	0.0011	0.0021	0.0020	0.0004	0	0.0003	0.0034	0.0003	0	0.0158	0.0025	0.0007	0.0011	1.0	0.00964	T	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.045	0.00177	N	2.65	0.12676	T	0.17	0.05217	N	0.008	0.00279	-0.9451	0.41797	T	0.012	0.04795	T	7	0.0041622818	0.00082	T	.	.	.	0.029	0.06676	.	.	.	.	0.0014868172778999987	0.00137	.	.	0.60544103384	0.53672	T	0.003769	0.03181	T	-0.812976	0.00006	T	-0.880548	0.00649	T	0.00337948559454426	0.00036	T	0.253275	0.05889	T	0.018368911	0.00358	0.048660997	0.07276	0.018368911	0.00358	0.048660997	0.07275	0.079	0.00322	T	.	.	0.078	0.06756	B	.;.	.;.	-0.798015	0.01111	0.050	0.23270300518739806	0.00976	0.00059	0.00440	N	AEFDBI	0.030227	0.03004	N	-1.10942111368607	0.06474	0.2981596	-1.24948818072852	0.05139	0.2441357	8.5790013234229E-5	0.04703	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	0.637	0.16907	-1.192000	0.03161	-7.885000	0.01068	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4202:0.5797:1.0E-4	4.531	0.11409	818	0.41518	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02632	309.72	317	chr7	100991611	.	G	A	309.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.23;DP=6411;ExcessHet=0.0000;FS=39.710;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=58.89;MQRankSum=-1.675e+01;QD=0.87;ReadPosRankSum=-5.499e+00;SOR=3.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,31:356:99:0|1:100991611_G_A:323,0,13491:100991611	18	0	1	2
chr7	100991624	100991624	A	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A1061T:p.H354L,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0	N	2.73	T	-0.968	T	0.013	T	0.127	-0.712	0.934	-1.27	-0.716	-0.222	1.411	0.006	.	.	.	0.0139	0.0048	0.0108	0.0346	0.0159	0.0177	0.0086	0.0113	0.0001537	4	26028	rs61747424	0.0006	0.0013	0.0006	0.0007	0.0014	0.0006	0.0006	0.0011	0.0011	0.0001	0.0005	0.0025	0.0005	0.0006	0.0002	0.0006	0.0011	0.0014	0.0011	0.0012	0.0012	0.0009	0.0021	0.0009	0.0008	0.0017	0.0016	0.0002	0	0.0003	0.0049	0	0.0002	0.0111	0.0021	0	0.0004	0.241	0.17643	T	0.195	0.28032	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.735	0.00332	N	2.73	0.11839	T	0.33	0.04022	N	0.015	0.00882	-0.9676	0.37693	T	0.013	0.05177	T	7	0.0038626492	0.00073	T	.	.	.	0.006	0.00375	.	.	.	.	0.002433093911046223	0.00225	.	.	0.596620261669	0.52427	T	0.003536	0.02940	T	-0.373274	0.03431	T	-0.773959	0.02640	T	0.00329215548494194	0.00035	T	0.151185	0.01686	T	0.035752583	0.04267	0.04066545	0.04446	0.035752583	0.04267	0.04066545	0.04445	0.412	0.00345	T	.	.	0.158	0.34970	B	.;.	.;.	-0.465212	0.01980	0.173	0.38324419502536222	0.02578	0.00011	0.00159	N	AEFDBI	0.020051	0.00753	N	-1.08505114179907	0.06918	0.3198499	-1.27307484654956	0.04798	0.2271737	1.24736336415903E-4	0.05386	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-1.090000	0.03483	-2.525000	0.03648	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3292:0.2765:0.0:0.3943	1.411	0.02154	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02941	1492.53	.	chr7	100991624	.	A	T	1492.53	.	AC=1;AF=0.029;AN=34;BaseQRankSum=6.41;DP=6516;ExcessHet=0.0000;FS=11.822;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=59.02;MQRankSum=-1.426e+01;QD=3.91;ReadPosRankSum=-4.376e+00;SOR=1.300	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,59:382:99:0|1:100991611_G_A:1505,0,13385:100991611	16	0	1	4
chr7	100991641	100991641	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G1078A:p.A360T,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	0	N	2.65	T	-0.962	T	0.011	T	0.053	-0.710	0.940	-1.27	-1.224	-2.287	.	0.005	.	.	.	0.0155	0.0050	0.0132	0.0417	0.0175	0.0198	0.0102	0.0125	0.0001921	5	26028	rs199720463	0.0018	0.0023	0.0017	0.0020	0.0041	0.0018	0.0017	0.0034	0.0033	0.0005	0.0028	0.0044	0.0041	0.0014	0.0016	0.0016	0.0024	0.0038	0.0016	0.0017	0.0018	0.0013	0.0030	0.0013	0.0012	0.0024	0.0022	0.0004	0	0.0005	0.0083	0.0015	0.0002	0.0127	0.0030	0.0011	0.0012	1.0	0.00964	T	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.75	0.01730	N	2.65	0.12676	T	0.52	0.03700	N	0.01	0.00095	-0.9620	0.38800	T	0.011	0.04369	T	6	0.002170533	0.00031	T	.	.	.	0.005	0.00259	.	.	.	.	0.001674034491428674	0.00154	.	.	0.567256093025	0.48291	T	0.003048	0.02453	T	-0.432002	0.01441	T	-0.858317	0.00861	T	0.0040173366323953	0.00043	T	0.218978	0.03459	T	0.03216753	0.03190	0.106965356	0.25742	0.03216753	0.03190	0.106965356	0.25742	-0.464	0.00562	T	.	.	0.100	0.17103	B	.;.	.;.	-1.986652	0.00104	0.002	0.25000751861114417	0.01132	0.00075	0.00520	N	AEFDBI	0.028703	0.02578	N	-1.32642038987601	0.03376	0.1506901	-1.49891551144516	0.02354	0.1081183	2.77590875686656E-4	0.06300	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-1.814000	0.01817	-7.422000	0.01160	-2.203000	0.00354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.0625	3616.07	350	chr7	100991641	.	G	A	3616.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=3.45;DP=6790;ExcessHet=0.1072;FS=12.192;InbreedingCoeff=-0.1200;MLEAC=2;MLEAF=0.063;MQ=59.04;MQRankSum=-1.110e+01;QD=4.73;ReadPosRankSum=-4.201e+00;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:314,100:414:99:0|1:100991611_G_A:3169,0,12879:100991611	14	0	2	5
chr7	100993010	100993010	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C2447T:p.T816M,	.	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	.	.	.	.	.	.	1.000	N	0	N	2.7	T	-0.968	T	0.013	T	0.069	-0.569	1.434	0.481	0.504	1.303	6.766	0.036	0.00452515238766	0.0031	0.00379393	0.0018	0.0025	0	0	0	0.0018	0	0.0022	0.0004204	65	154602	rs369484988	0.0022	0.0045	0.0022	0.0022	0.0038	0.0021	0.0021	0.0033	0.0031	0.0038	0.0022	0.0041	0.0003	0.0025	0.0002	0.0022	0.0027	0.0015	0.0025	0.0040	0.0024	0.0025	0.0033	0.0023	0.0022	0.0029	0.0027	0.0033	0	0.0030	0.0044	0	0.0014	0	0.0023	0.0014	0.0015	0.123	0.27544	T	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.01	0.25309	L	2.7	0.12162	T	-0.5	0.15782	N	0.058	0.02964	-0.9682	0.37571	T	0.013	0.05081	T	7	0.006265819	0.00141	T	0.004525	0.11125	T	0.036	0.09122	.	.	0.0401082797425	0.02173	0.027678140518148393	0.02717	.	.	0.505224347115	0.39555	T	0.001987	0.01394	T	-0.676911	0.00050	T	-0.758342	0.03172	T	0.00418977222914222	0.00045	T	0.351465	0.09121	T	0.023684785	0.01129	0.03850553	0.03735	0.023684785	0.01129	0.03850553	0.03735	-7.036	0.54296	T	.	.	0.140	0.33687	B	.;.	.;.	1.474786	0.18991	14.03	0.59463787936966817	0.06230	0.01420	0.04791	N	AEFBI	0.046928	0.07847	N	-0.852093647841034	0.11999	0.5822373	-1.02799269619295	0.09172	0.4548479	3.25670559445159E-5	0.03775	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	0.481	0.16020	0.331000	0.19477	-2.613000	0.03548	0.350000	0.19923	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.9998:0.0:2.0E-4	6.766	0.22753	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3001.98	340	chr7	100993010	.	C	T	3001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.52;DP=6345;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.62;MQRankSum=-1.006e+00;QD=3.78;ReadPosRankSum=-4.420e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/1:617,178:795:99:3016,0,15210	20	0	1	0
chr7	101000293	101000293	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A9730G:p.T3244A,	.	.	331	1174	17	0	0	17	0.00718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	.	.	.	.	.	.	1.000	N	0	N	2.81	T	-0.920	T	0.012	T	0.081	-0.708	0.944	0.109	0.156	0.022	.	0.020	0.0147554947816	.	.	0.0019	0	0	0	0	0.0005	0.0042	0.0046	3.84e-05	1	26028	rs767546340	5.789e-06	0.0009	2.856e-06	8.802e-06	0.0002	2.49e-06	1.8e-06	4.119e-05	2.888e-05	0	0	0	0	0	0.0002	0	0	8.97e-05	6.57e-06	0.0007	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.505	0.11004	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.81	0.10975	T	-1.17	0.29933	N	0.089	0.12913	-0.9200	0.45554	T	0.012	0.04700	T	6	0.012117922	0.00262	T	0.014755	0.35085	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.09361338531329641	0.09293	.	.	0.541573524475	0.44668	T	0.007058	0.06479	T	-0.552468	0.00282	T	-0.733799	0.04157	T	0.0482062467348094	0.05180	T	0.216578	0.02710	T	0.09819249	0.23157	0.1203934	0.29054	0.09819249	0.23157	0.1203934	0.29053	-8.066	0.61519	D	.	.	0.149	0.32898	B	.;.	.;.	0.656210	0.10244	6.983	0.27641341100792455	0.01382	0.00275	0.01491	N	AEFBI	0.022379	0.01112	N	-1.02287317704867	0.08130	0.3801577	-1.20135753606827	0.05888	0.2818667	1.16875703740527E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	-0.918000	0.04130	-0.347000	0.09772	0.285000	0.18709	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2254.98	419	chr7	101000293	.	A	G	2254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.96;DP=33513;ExcessHet=0.0000;FS=2.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.70;MQRankSum=-3.830e-01;QD=1.22;ReadPosRankSum=2.93;SOR=0.873	GT:AD:DP:GQ:PL	0/1:1606,240:1846:99:2269,0,47703	20	0	1	0
chr7	101032450	101032450	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C1034T:p.P345L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.749	P	0.05	B	.	.	1.000	N	0.55	N	4.0	T	-0.886	T	0.006	T	0.036	-0.431	1.995	0.192	0.076	0.151	6.394	0.047	0.00111252147773	.	0.000599042	0.0003	0	0	0	0	4.502e-05	0	0.0020	0.0002458	38	154602	rs571365213	9.99e-05	9.987e-05	8.987e-05	0.0001	0.0010	8.648e-05	8.136e-05	0.0009	0.0008	8.962e-05	0	0	0	0	0	4.138e-05	0.0001	0.0010	5.916e-05	5.908e-05	5.144e-05	6.723e-05	0.0015	3.078e-05	2.211e-05	0.0007	0.0005	0	0	0	0	0	0	0	2.942e-05	0	0.0015	0.069	0.35537	T	.	.	.	0.749	0.43231	P	0.05	0.25278	B	.	.	.	.	1	0.08975	N	1.43	0.35840	L	4.0	0.03239	T	-0.33	0.12472	N	0.023	0.00407	-0.8860	0.49273	T	0.006	0.01907	T	9	0.009411782	0.00212	T	0.001113	0.01336	T	0.047	0.12962	0.194	0.10571	0.0920862733494	0.08535	0.011167358748364999	0.01076	.	.	0.228331297636	0.01847	T	0.018506	0.14904	T	-0.715303	0.00030	T	-0.824887	0.01356	T	0.0216823191405074	0.00873	T	0.363264	0.08416	T	0.025610741	0.01518	0.032516297	0.01998	0.025610741	0.01518	0.032516297	0.01998	-3.617	0.18103	T	.	.	0.123	0.25721	B	.	.	-0.213959	0.03021	0.460	0.30008950011797891	0.01620	0.01864	0.05751	N	AEFGBI	0.050175	0.08744	N	-1.19801433607488	0.05031	0.2283723	-1.34124503542775	0.03910	0.1833617	6.78658464410491E-5	0.04366	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	1.21	0.192	0.14415	-0.096000	0.11027	-3.063000	0.03094	-1.354000	0.01188	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2914:0.7086:0.0:0.0	6.394	0.20802	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	8969.98	42	chr7	101032450	.	C	T	8969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=3724;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.341;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,245:589:99:0|1:101032432_C_T:8984,0,12910:101032432	20	0	1	0
chr7	101036967	101036967	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5551A:p.P1851T,	.	.	413	1097	5	3	4	15	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0.205	N	4.01	T	-0.954	T	0.000	T	0.015	-1.835	0.009	-1.65	-2.299	-3.954	2.898	0.038	.	0.0143	0.0984425	0.0331	0.0531	0.0470	0.119	0.0235	0.0020	0.0404	0.1047	0.0196711	512	26028	rs146323653	0.0029	0.0038	0.0028	0.0030	0.0255	0.0028	0.0028	0.0246	0.0242	0.0238	0.0042	0	0.0174	0.0009	0.0028	0.0002	0.0087	0.0255	0.0013	0.0018	0.0013	0.0013	0.0067	0.0012	0.0011	0.0046	0.0039	0.0030	0	0.0012	0	0.0052	0.0011	0	7.383e-05	0.0020	0.0067	0.47	0.08483	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.215	0.00119	N	4.01	0.03208	T	-0.17	0.09627	N	0.013	0.00142	-0.9539	0.40292	T	0.000	0.00011	T	9	0.001913935	0.00026	T	.	.	.	0.038	0.09825	.	.	.	.	0.008167875960877372	0.00781	.	.	0.307297408581	0.11498	T	0.017686	0.14383	T	-0.848023	0.00003	T	-0.917049	0.00394	T	0.00526121026644924	0.00057	T	0.337066	0.07215	T	0.024168309	0.01222	0.036329627	0.03057	0.024168309	0.01222	0.036329627	0.03056	-5.758	0.44207	T	.	.	0.055	0.00368	B	.	.	-1.502060	0.00293	0.005	0.3020599618988527	0.01640	0.00015	0.00188	N	AEFGBI	0.023075	0.01237	N	-2.18235591645393	0.00084	0.003590284	-2.25569835555309	0.00084	0.003681959	0.00982018823274634	0.11918	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.557000	0.00482	-20.000000	0.00162	-1.599000	0.00895	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3143:0.4394:0.0:0.2462	2.898	0.05348	830	0.39242	.	.	.	.	.	rs146323653	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	6645.98	510	chr7	101036967	.	C	A	6645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=11476;ExcessHet=0.0000;FS=0.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.14;MQRankSum=-3.771e+00;QD=12.59;ReadPosRankSum=0.491;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,190:528:99:0|1:101036967_C_A:6660,0,13393:101036967	20	0	1	0
chr7	101036975	101036975	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5559C:p.E1853D,	.	.	416	1094	5	3	4	15	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.023	B	0.012	B	.	.	1.000	N	0.345	N	4.25	T	-0.897	T	0.003	T	0.029	0.006	4.046	-1.13	-0.266	-2.311	3.858	0.005	.	0.0083	0.0972444	0.0329	0.0527	0.0470	0.119	0.0235	0.0020	0.0402	0.1030	0.0189796	494	26028	rs148675022	0.0019	0.0037	0.0019	0.0020	0.0170	0.0019	0.0018	0.0162	0.0159	0.0164	0.0022	0	0.0123	0.0004	0.0016	0.0001	0.0059	0.0170	0.0011	0.0018	0.0010	0.0011	0.0053	0.0009	0.0009	0.0034	0.0029	0.0024	0	0.0010	0	0.0046	0.0011	0	7.372e-05	0.0015	0.0053	0.279	0.15561	T	.	.	.	0.023	0.18885	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	4.25	0.02564	T	-0.19	0.09965	N	0.014	0.00160	-0.8966	0.48331	T	0.003	0.00800	T	9	0.0023345947	0.00034	T	.	.	.	0.005	0.00259	0.114	0.02306	.	.	0.003600133997673742	0.00337	.	.	0.318828165531	0.13244	T	0.018853	0.15125	T	-0.797276	0.00008	T	-0.864555	0.00796	T	0.0040418192727935	0.00043	T	0.288571	0.05217	T	0.048784774	0.08559	0.0455507	0.06155	0.048784774	0.08559	0.0455507	0.06154	-7.579	0.58164	D	.	.	0.187	0.40344	B	.	.	-0.266440	0.02767	0.373	0.15931405405746954	0.00408	0.00495	0.02340	N	AEFGBI	0.061181	0.11677	N	-1.44277843029105	0.02274	0.1002479	-1.54095469140167	0.02039	0.0931966	6.31312032253946E-4	0.07505	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	-2.775000	0.00847	-3.288000	0.02904	0.377000	0.20376	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	6137.98	510	chr7	101036975	.	A	C	6137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.183e+00;DP=11377;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.91;MQRankSum=-4.940e+00;QD=11.92;ReadPosRankSum=-5.360e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,172:515:99:0|1:101036967_C_A:6152,0,13852:101036967	20	0	1	0
chr7	101036980	101036980	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5564G:p.T1855S,	.	.	415	1094	5	3	5	16	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.886	P	0.126	B	.	.	1.000	N	0.345	N	4.34	T	-0.870	T	0.004	T	0.074	-0.451	1.911	-0.378	-0.088	-0.049	5.867	0.022	.	.	0.0974441	0.0326	0.0520	0.0470	0.1188	0.0235	0.0020	0.0402	0.1011	0.0189411	493	26028	rs141195508	0.0012	0.0036	0.0011	0.0012	0.0103	0.0011	0.0011	0.0097	0.0094	0.0091	0.0015	0	0.0088	0.0004	0.0011	7.293e-05	0.0033	0.0103	0.0009	0.0017	0.0009	0.0009	0.0050	0.0008	0.0007	0.0032	0.0027	0.0021	0	0.0010	0	0.0032	0.0007	0	5.897e-05	0.0010	0.0050	0.046	0.40573	D	.	.	.	0.886	0.48745	P	0.126	0.32692	B	.	.	.	.	1	0.08975	N	2.38	0.68558	M	4.34	0.02341	T	-0.26	0.11185	N	0.019	0.00279	-0.8695	0.50567	T	0.004	0.01400	T	9	0.002970755	0.00048	T	.	.	.	0.022	0.04323	0.118	0.02577	.	.	0.0033279495015064546	0.00310	.	.	0.313005208969	0.12361	T	0.016925	0.13896	T	-0.728087	0.00025	T	-0.777643	0.02526	T	0.0111646505528084	0.00163	T	0.273273	0.04638	T	0.028086957	0.02093	0.04039063	0.04356	0.028086957	0.02092	0.04039063	0.04355	-7.054	0.54427	T	.	.	0.125	0.26263	B	.	.	-0.481825	0.01927	0.162	0.18751851816912099	0.00603	0.01221	0.04330	N	AEFGBI	0.053237	0.09575	N	-1.00577024279366	0.08484	0.3979318	-1.18644816366495	0.06135	0.2943982	9.29109817510881E-4	0.08013	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-0.378	0.11875	-2.310000	0.01210	-3.435000	0.02789	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3073:0.6927:0.0:0.0	5.867	0.18031	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	5431.98	510	chr7	101036980	.	C	G	5431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.62;DP=11355;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.67;MQRankSum=-6.065e+00;QD=11.02;ReadPosRankSum=-1.254e+00;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,154:493:99:0|1:101036967_C_A:5446,0,13771:101036967	20	0	1	0
chr7	101036987	101036987	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5571G:p.I1857M,	.	.	414	1096	5	3	4	15	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.002	B	0.001	B	.	.	1.000	N	-0.55	N	4.22	T	-0.918	T	0.004	T	0.107	-1.026	0.225	-0.746	-0.948	-3.598	4.446	0.017	.	.	0.095647	0.0315	0.0482	0.0468	0.1181	0.0235	0.0020	0.0391	0.0959	0.0185185	482	26028	rs529733229	0.0004	0.0028	0.0003	0.0005	0.0049	0.0004	0.0004	0.0043	0.0041	0.0021	0.0005	0	0.0049	0.0003	0.0002	1.441e-05	0.0009	0.0040	0.0008	0.0016	0.0008	0.0008	0.0039	0.0007	0.0006	0.0024	0.0019	0.0018	0	0.0007	0	0.0032	0.0006	0	5.9e-05	0.0010	0.0039	0.498	0.07797	T	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	4.22	0.02640	T	-0.11	0.08653	N	0.007	0.00055	-0.9180	0.45824	T	0.004	0.01330	T	9	0.002025187	0.00029	T	.	.	.	0.017	0.02790	.	.	.	.	0.0045953391162681006	0.00432	.	.	0.289408802986	0.08836	T	0.017638	0.14358	T	-0.761262	0.00015	T	-0.839816	0.01101	T	0.00139843970367867	0.00014	T	0.256474	0.04006	T	0.033943307	0.03713	0.04277209	0.05172	0.033943307	0.03713	0.04277209	0.05172	-3.979	0.23488	T	.	.	0.075	0.05447	B	.	.	-1.288929	0.00448	0.009	0.16073283758156165	0.00417	0.00033	0.00296	N	AEFGBI	0.026552	0.02014	N	-1.81936807619775	0.00499	0.02149962	-1.87946331982856	0.00537	0.02382829	0.00107390509056506	0.08194	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-0.746	0.10535	-3.464000	0.00514	-20.000000	0.00162	-1.691000	0.00771	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5762:0.0:0.4238:0.0	4.446	0.11018	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	5137.98	510	chr7	101036987	.	A	G	5137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.36;DP=11348;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.59;MQRankSum=-6.586e+00;QD=10.57;ReadPosRankSum=-3.881e+00;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,147:486:99:0|1:101036967_C_A:5152,0,13792:101036967	20	0	1	0
chr7	101036988	101036988	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5572C:p.A1858P,	.	.	419	1091	5	3	4	15	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	.	.	1.000	N	-0.695	N	4.15	T	-0.936	T	0.003	T	0.147	-0.768	0.764	-1.65	-2.401	-6.426	0.369	0.026	.	.	0.095647	0.0315	0.0482	0.0468	0.1180	0.0235	0.0020	0.0391	0.0957	0.0185569	483	26028	rs139009576	0.0004	0.0028	0.0003	0.0004	0.0045	0.0003	0.0003	0.0039	0.0037	0.0015	0.0004	0	0.0045	0.0002	0	9.906e-06	0.0007	0.0035	0.0008	0.0016	0.0007	0.0008	0.0039	0.0006	0.0006	0.0024	0.0019	0.0017	0	0.0006	0	0.0033	0.0006	0	5.92e-05	0.0010	0.0039	0.372	0.11478	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.95	0.00216	N	4.15	0.02815	T	0.05	0.06369	N	0.053	0.02462	-0.9360	0.43241	T	0.003	0.01059	T	9	0.0026809275	0.00041	T	.	.	.	0.026	0.05648	.	.	.	.	0.02903108957003057	0.02852	.	.	0.296740233898	0.09916	T	0.017693	0.14390	T	-0.711379	0.00031	T	-0.768163	0.02829	T	0.00329269740675991	0.00035	T	0.304969	0.05824	T	0.043084126	0.06653	0.050497707	0.07939	0.043084126	0.06652	0.050497707	0.07939	-2.712	0.07404	T	.	.	0.087	0.11027	B	.	.	-0.868193	0.00980	0.039	0.24002919280004392	0.01041	0.00011	0.00159	N	AEFGBI	0.017581	0.00471	N	-2.0766285698698	0.00144	0.006166915	-2.15095754879182	0.00144	0.006337654	0.0149628824962402	0.12659	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.812000	0.00405	-4.376000	0.02188	-2.974000	0.00147	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.241:0.3094:0.2397:0.2099	0.369	0.00350	830	0.39242	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	5050.98	510	chr7	101036988	.	G	C	5050.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=11347;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.58;MQRankSum=-6.762e+00;QD=10.41;ReadPosRankSum=-3.966e+00;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:340,145:485:99:0|1:101036967_C_A:5065,0,13840:101036967	20	0	1	0
chr7	101037005	101037005	T	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.T5589G:p.S1863R,	.	.	416	1094	5	3	4	15	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.797	P	0.321	B	.	.	1.000	N	0	N	4.23	T	-0.889	T	0.005	T	0.099	-0.340	2.389	0.046	0.115	0.092	.	0.033	.	0.0007	.	0.0208	0.0334	0.0332	0.0858	0.0159	0.0015	0.0301	0.0546	7.68e-05	2	26028	rs144965214	0.0002	0.0007	0.0002	0.0003	0.0032	0.0002	0.0002	0.0027	0.0026	0.0004	0.0003	0	0.0032	0.0001	0	9e-07	0.0002	0.0021	0.0004	0.0011	0.0004	0.0003	0.0019	0.0003	0.0003	0.0009	0.0006	0.0009	0	0.0002	0	0.0016	0.0002	0	2.947e-05	0.0010	0.0019	0.37	0.11550	T	.	.	.	0.797	0.44809	P	0.321	0.41760	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	4.23	0.02616	T	-0.77	0.21429	N	0.024	0.00445	-0.8886	0.49055	T	0.005	0.01615	T	8	0.0044896007	0.00092	T	.	.	.	0.033	0.08068	0.194	0.10571	.	.	0.01233914984188236	0.01192	.	.	0.299895703793	0.10385	T	0.017757	0.14435	T	-0.682001	0.00047	T	-0.73945	0.03914	T	0.00939915424853505	0.00120	T	0.340266	0.07351	T	0.10370106	0.24512	0.1283763	0.30886	0.10370106	0.24512	0.1283763	0.30885	-7.069	0.54537	T	.	.	0.241	0.47524	B	.	.	0.527789	0.08965	5.746	0.33326692460308971	0.01979	0.01430	0.04814	N	AEFGBI	0.064454	0.12515	N	-1.02251595279122	0.08138	0.3805158	-1.20536102117136	0.05823	0.2785533	0.00121046594272654	0.08334	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.013000	0.13206	-6.532000	0.01373	0.335000	0.19678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3490.98	510	chr7	101037005	.	T	G	3490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.75;DP=11312;ExcessHet=0.0000;FS=0.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.33;MQRankSum=-9.616e+00;QD=7.76;ReadPosRankSum=-6.877e+00;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,108:450:99:0|1:101036967_C_A:3505,0,14035:101036967	20	0	1	0
chr7	101037014	101037014	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5598G:p.S1866R,	.	.	415	1096	6	3	2	14	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.797	P	0.093	B	.	.	1.000	N	0.46	N	4.23	T	-0.967	T	0.004	T	0.098	-2.876	0.001	-1.65	-4.132	-1.802	0.291	0.029	.	.	0.0449281	0.0050	0.0090	0.0081	0.0244	0.0021	0.0004	0.0056	0.0112	0.008683	226	26028	rs201207919	0.0002	0.0007	0.0002	0.0002	0.0031	0.0002	0.0002	0.0026	0.0024	0.0003	0.0002	0	0.0031	7.959e-05	0	2.751e-06	8.734e-05	0.0020	0.0003	0.0011	0.0003	0.0003	0.0023	0.0002	0.0002	0.0010	0.0007	0.0008	0	0.0002	0	0.0006	0.0002	0	1.813e-05	0.0014	0.0023	0.007	0.59928	D	.	.	.	0.797	0.44809	P	0.093	0.30104	B	.	.	.	.	1	0.08975	N	2.295	0.65404	M	4.23	0.02616	T	-0.65	0.18877	N	0.038	0.01203	-0.9674	0.37733	T	0.004	0.01261	T	9	0.0030860305	0.00051	T	.	.	.	0.029	0.06676	0.264	0.20946	0.0297737177859	0.01360	0.005365800952421269	0.00507	.	.	0.329270333052	0.14824	T	0.017645	0.14358	T	-0.684915	0.00045	T	-0.747215	0.03595	T	0.0134149078318583	0.00243	T	0.412159	0.10706	T	0.078873836	0.17988	0.07059529	0.15018	0.078873836	0.17988	0.07059529	0.15018	-5.575	0.42563	T	.	.	0.343	0.56098	A	.	.	-0.584777	0.01613	0.110	0.092152076708719846	0.00089	0.00097	0.00633	N	AEFGBI	0.034789	0.04369	N	-2.08138097362421	0.00141	0.006020611	-2.26102061448563	0.00081	0.003577088	0.993921298330382	0.33413	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-4.764000	0.00219	-3.044000	0.03112	-1.910000	0.00516	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1985:0.2707:0.1984:0.3324	0.291	0.00241	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2675.98	510	chr7	101037014	.	C	G	2675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.20;DP=11348;ExcessHet=0.0000;FS=0.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.35;MQRankSum=-1.180e+01;QD=6.12;ReadPosRankSum=-7.504e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,89:437:99:0|1:101036967_C_A:2690,0,14321:101036967	20	0	1	0
chr7	101037015	101037015	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5599C:p.T1867P,	.	.	417	942	154	0	9	163	0.0755643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.985	D	0.429	B	.	.	1.000	N	0.895	L	4.26	T	-0.928	T	0.007	T	0.195	-0.397	2.141	-1.13	-0.266	1.153	3.858	0.088	.	.	0.048123	0.0050	0.0087	0.0080	0.0242	0.0021	0.0004	0.0056	0.0112	0.0093745	244	26028	rs201970250	0.0002	0.0003	0.0001	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0002	0.0002	0	0.0029	3.966e-05	0	0	8.722e-05	0.0020	0.0002	0.0006	0.0002	0.0002	0.0013	0.0001	0.0001	0.0005	0.0003	0.0005	0	0.0002	0	0	0.0002	0	1.594e-05	0	0.0013	0.229	0.18371	T	.	.	.	0.985	0.61118	D	0.429	0.45365	B	.	.	.	.	1	0.08975	N	2.455	0.71248	M	4.26	0.02538	T	-1.07	0.27876	N	0.128	0.12198	-0.9277	0.44473	T	0.007	0.02518	T	9	0.003565222	0.00064	T	.	.	.	0.088	0.25558	.	.	0.0611884634855	0.05136	0.002191109293456971	0.00203	.	.	0.351847529411	0.18193	T	0.016686	0.13743	T	-0.60438	0.00137	T	-0.631531	0.10299	T	0.0159473787907998	0.00378	T	0.261374	0.04213	T	0.15294392	0.34692	0.075604185	0.16662	0.15294392	0.34692	0.075604185	0.16661	-6.419	0.49657	T	.	.	0.120	0.24800	B	.	.	0.701578	0.10706	7.397	0.14541750727747688	0.00324	0.01581	0.05150	N	AEFGBI	0.143396	0.26609	N	-0.779157462639097	0.13853	0.6855809	-1.02874192314484	0.09156	0.453968	4.52875406325812E-4	0.07036	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	0.592000	0.23685	-0.123000	0.11700	0.377000	0.20376	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	5841.15	510	chr7	101037015	.	A	AC,C	5841.15	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-2.073e+00;DP=11424;ExcessHet=0.6776;FS=0.857;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=55.12;MQRankSum=-1.246e+01;QD=1.95;ReadPosRankSum=4.83;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:350,0,86:436:99:0|1:101036967_C_A:2558,3611,18224,0,14612,14354:101036967	17	0	3	0
chr7	101039473	101039473	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8057A:p.T2686N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.115	B	0.006	B	.	.	1.000	N	0.695	N	4.41	T	-0.901	T	0.005	T	0.074	0.101	4.546	-0.963	-0.334	0.518	5.038	0.041	0.00162545270169	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.068e-05	1.29e-05	2	154602	rs770479083	5.481e-06	5.473e-06	1.363e-06	9.64e-06	8.146e-05	2.36e-06	1.7e-06	3.778e-05	2.67e-05	0	0	0	0	0	0	9.001e-07	0	8.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	.	.	.	0.115	0.26429	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.125	0.59049	M	4.41	0.02196	T	-1.04	0.27259	N	0.059	0.03069	-0.9013	0.47857	T	0.005	0.01578	T	9	0.058129013	0.06787	T	0.001625	0.02625	T	0.041	0.10877	0.149	0.05238	0.0138822411134	0.00435	7.716736871859395E-4	0.00071	.	.	0.254687875509	0.04278	T	0.017708	0.14403	T	-0.407792	0.02056	T	-0.722912	0.04656	T	0.0515401577520371	0.05769	T	0.476352	0.14285	T	0.06500505	0.13849	0.06751324	0.13977	0.06500505	0.13848	0.06751324	0.13977	-8.734	0.65968	D	.	.	0.108	0.20313	B	.	.	1.051206	0.14322	10.90	0.39660372291285917	0.02750	0.01023	0.03844	N	AEFBI	0.047386	0.07973	N	-1.53923695277019	0.01598	0.06985501	-1.63549459218533	0.01453	0.06571143	1.0635020245165E-4	0.05123	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.13	-0.963	0.09802	0.944000	0.28641	-4.118000	0.02332	0.311000	0.19140	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.4015:0.0:0.5985	5.038	0.13783	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	9020.98	42	chr7	101039473	.	C	A	9020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.330e-01;DP=6519;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=-9.100e-01;SOR=0.733	GT:AD:DP:GQ:PL	0/1:359,349:708:99:9035,0,9272	20	0	1	0
chr7	101048017	101048017	G	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon4:c.G12437T:p.R4146L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.029	B	0.001	B	.	.	1.000	N	0.55	N	4.62	T	-0.902	T	0.004	T	0.211	0.168	4.905	-2.3	-0.466	-0.608	4.327	0.028	0.00113522000299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.376e-06	1.368e-06	0	2.767e-06	2.358e-05	2.3e-07	9e-08	3.91e-06	1.47e-06	0	0	0	0	0	0	0	0	2.358e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	.	.	.	0.029	0.19866	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	4.62	0.01834	T	-0.45	0.14782	N	0.124	0.11626	-0.9021	0.47771	T	0.004	0.01159	T	9	0.14606613	0.27698	T	0.001135	0.01385	T	0.028	0.06331	0.455	0.51938	0.0482279557977	0.04254	0.3469326934906771	0.34607	.	.	0.240088433027	0.02799	T	0.018146	0.14677	T	-0.330138	0.06102	T	-0.711997	0.05193	T	0.0419892803615075	0.04054	T	0.40416	0.10358	T	0.04751872	0.08134	0.05269733	0.08732	0.04751872	0.08134	0.05269733	0.08731	-2.496	0.05754	T	.	.	0.116	0.23325	B	.	.	-0.737151	0.01237	0.063	0.30361541991836349	0.01657	0.00085	0.00571	N	AEFDBI	0.026103	0.01901	N	-1.51825856441941	0.01729	0.07571774	-1.58052722774108	0.01774	0.08075041	1.76153169276707E-4	0.05786	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.03	-2.3	0.06399	-0.316000	0.08112	-3.165000	0.03006	-0.922000	0.02193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.0:0.4094:0.4005	4.327	0.10484	835	0.38313	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1365.98	38	chr7	101048017	.	G	T	1365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.585;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-1.256e+00;SOR=0.698	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1380,0,1600	20	0	1	0
chr7	102321363	102321363	G	C	exonic	SH2B2	.	nonsynonymous SNV	SH2B2:NM_001359228:exon9:c.G1632C:p.Q544H	.	.	361	1149	11	1	0	13	0.00562527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.963	D	0.707	P	0.002	N	0.688	N	0.975	L	1.33	T	-0.915	T	0.105	T	0.917	3.403	17.49	4.44	2.305	1.870	6.100	0.071	.	.	0.00339457	0.0055	0	0	0	0	0	0	0.0078	0.0003299	51	154602	rs551876946	0.0003	0.0003	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0027	0.0002	9.751e-05	0	0	0	0.0010	0.0001	0.0002	0.0032	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0022	0.0018	0.0001	0	6.551e-05	0	0	0	0	0.0002	0.0005	0.0035	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.001762	0.38052	N	0.221696	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	-0.9151	0.46207	T	0.105	0.38489	T	9	0.008153677	0.00185	T	.	.	.	0.203	0.48915	.	.	0.832138359527	0.83054	0.378363826489042	0.37751	0.590791334462	0.54529	0.874636590481	0.93225	D	.	.	.	0.0757761	0.61542	D	0.334281	0.89681	D	0.0898801812054676	0.11205	T	0.724428	0.33821	T	.	.	.	.	.	.	.	.	-2.829	0.08453	T	.	.	0.195	0.41587	B	.	.	2.472619	0.31872	18.87	0.99602580607116897	0.74278	0.73881	0.36137	D	AEFDBCI	0.234904	0.35759	N	0.0813665944166749	0.45595	2.813341	0.13795238513356	0.46509	2.895578	0.999999818315793	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.674405	0.61402	0	0.505526	0.08623	0	.	.	4.44	4.44	0.53164	1.918000	0.39636	4.350000	0.43085	0.562000	0.28470	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.2094:0.0:0.7906:0.0	6.100	0.19266	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	111.98	34	chr7	102321363	.	G	C	111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.652;DP=614;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.00;ReadPosRankSum=-1.759e+00;SOR=1.236	GT:AD:DP:GQ:PL	0/1:11,5:16:99:126,0,280	20	0	1	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.09	T	-0.079	T	0.414	T	0.931	4.705	26.1	4.65	1.469	7.967	14.775	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	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	0.25	1847.14	124	chr7	102934283	.	G	C	1847.14	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-4.298e+00;DP=2977;ExcessHet=6.1002;FS=207.422;InbreedingCoeff=-0.3468;MLEAC=11;MLEAF=0.275;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.257;SOR=12.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,45:158:99:.:.:389,0,2406	10	0	10	1
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.034	B	0.017	B	0.000	D	1.000	D	0.745	N	1.61	T	-1.047	T	0.041	T	0.188	-0.497	1.720	4.33	2.523	2.637	9.900	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1765	390.74	77	chr7	105614066	.	G	C	390.74	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-4.208e+00;DP=2407;ExcessHet=1.7912;FS=149.613;InbreedingCoeff=-0.2427;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=0.978;SOR=11.460	GT:AD:DP:GQ:PL	0/1:98,22:124:79:79,0,1979	11	0	6	4
chr7	107045212	107045212	A	G	exonic	PRKAR2B	.	nonsynonymous SNV	PRKAR2B:NM_002736:exon1:c.A305G:p.N102S,	.	.	.	.	.	.	.	.	.	0.0007	0.052	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.000	U	0.999	N	-0.205	N	-1.44	T	-0.817	T	0.227	T	0.034	0.842	8.401	2.06	0.754	0.506	5.865	0.179	0.149643823149	.	0.00119808	0	0	0	0	0	0	0	0	0.0003458	9	26028	rs568215467	0.0003	0.0003	0.0002	0.0004	0.0055	0.0003	0.0003	0.0051	0.0049	3.585e-05	7.933e-05	0	8.91e-05	6.098e-05	0	1.063e-05	0.0002	0.0055	0.0002	0.0002	0.0002	0.0003	0.0058	0.0002	0.0002	0.0041	0.0036	0.0001	0	0	0	0	9.407e-05	0	2.942e-05	0	0.0058	0.543	0.06735	T	0.712	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.000026	0.00348	U	24.784500	0.998916	0.21801	N	0.55	0.14455	N	-1.44	0.80815	T	-0.04	0.07590	N	0.068	0.04072	-0.8165	0.54152	T	0.227	0.59246	T	10	0.0053576827	0.00118	T	0.149644	0.83143	D	0.179	0.44899	0.332	0.31843	0.434057395736	0.43027	0.11674322856890336	0.11602	0.673012109471	0.59568	0.774397194386	0.78083	T	0.206136	0.56538	T	-0.510119	0.00501	T	-0.504299	0.21902	T	0.00927292387694864	0.00118	T	.	.	.	0.038848385	0.05253	0.031113124	0.01655	0.038848385	0.05253	0.031113124	0.01654	-2.202	0.04050	T	.	.	0.050	0.00154	B	.	.	1.913494	0.24300	16.35	0.76678734358574019	0.11565	0.36872	0.25633	N	AEFDBCI	0.122721	0.23799	N	-0.798933182876584	0.13337	0.6563529	-0.64922598858666	0.18236	0.9733082	0.99999925882366	0.74766	0.733237	0.96898	0	0.491552	0.07993	0	0.851219	0.99655	0	0.621717	0.48901	0	.	.	4.49	2.06	0.25932	0.222000	0.17482	1.920000	0.29703	0.740000	0.86194	0.023000	0.19925	0.557000	0.25500	0.910000	0.44547	0.3858:0.5091:0.1052:0.0	5.865	0.18017	341	0.85936	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	474.98	39	chr7	107045212	.	A	G	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.310e-01;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.19;ReadPosRankSum=-6.570e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:36,22:58:99:489,0,961	20	0	1	0
chr7	107701183	107701183	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon16:c.T1790C:p.L597S,	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	YES	6	1425	85	6	0	97	0.0329148	.	.	52694	Pendred_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_specified|not_provided	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	1.0	D	0.995	D	0.000	D	0.997	D	2.56	M	-3.23	D	0.778	D	0.855	D	0.949	3.900	19.83	5.72	2.189	6.396	16.000	0.848	.	0.0063	0.00858626	0.0083	0.0013	0.0025	0	0.0011	0.0075	0.0044	0.0272	0.008137	1258	154602	rs55638457	0.0086	0.0087	0.0078	0.0094	0.0294	0.0085	0.0084	0.0285	0.0281	0.0013	0.0026	0.0204	0	0.0008	0.0166	0.0078	0.0083	0.0294	0.0062	0.0062	0.0061	0.0064	0.0282	0.0059	0.0058	0.0244	0.0229	0.0011	0	0.0069	0.0202	0.0004	0.0010	0.0170	0.0081	0.0099	0.0282	0.002	0.72154	D	0.072	0.43344	T	0.999	0.77913	D	0.987	0.77487	D	0.000026	0.55875	D	0.000000	0.996546	0.43267	D	2.005	0.54552	M	-3.23	0.93414	D	-4.43	0.77554	D	0.751	0.75009	0.778	0.94144	D	0.855	0.95166	D	10	0.008705229	0.00197	T	.	.	.	0.848	0.95286	.	.	0.993411842951	0.99333	0.7146361969492586	0.71406	0.0744065334722	0.08345	0.599259257317	0.52800	T	0.52255	0.83330	D	0.109073	0.65256	D	0.404849	0.92270	D	0.0128156377420309	0.00218	T	0.80172	0.44782	T	0.655183	0.75640	0.7329923	0.84221	0.6963972	0.77861	0.72609085	0.83821	-11.425	0.81937	D	0.3751398837757109	0.47022	0.915	0.83794	P	.;.	.;.	5.023850	0.83509	28.1	0.99875485699813071	0.95244	0.96669	0.70311	D	AEBI	0.844122	0.76110	D	0.665602469293769	0.77382	6.663954	0.656390780406368	0.79086	7.008897	0.999997293239954	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.72	5.72	0.89380	6.175000	0.71875	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.000	0.80080	772	0.48957	STAS domain|STAS domain;STAS domain|STAS domain	.	.	.	.	rs55638457	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	0.02381	776.98	34	chr7	107701183	.	T	C	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=759;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-1.076e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/1:39,31:70:99:791,0,967	20	0	1	0
chr7	108497552	108497552	G	C	exonic	PNPLA8	.	nonsynonymous SNV	PNPLA8:NM_001256008:exon5:c.C1384G:p.R462G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.889	P	0.591	P	0.001	D	0.999	N	1.895	L	2.32	T	-1.043	T	0.065	T	0.708	2.999	16.00	1.32	-0.052	1.674	15.480	0.193	0.0160360515886	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762607088	2.742e-06	2.736e-06	1.364e-06	4.134e-06	1.164e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	1.164e-05	6.577e-06	6.569e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.005	0.63226	D	0.015	0.61642	D	0.889	0.48869	P	0.591	0.50479	P	0.000750	0.42006	D	0.204146	0.998927	0.21792	N	1.83	0.48079	L	2.32	0.16640	T	-4.27	0.76254	D	0.681	0.73015	-1.0432	0.16354	T	0.065	0.26807	T	10	0.38207084	0.54268	T	0.016036	0.37096	T	0.193	0.47281	0.589	0.71749	0.265929055128	0.26215	0.7073690292684884	0.70678	0.483770202929	0.47312	0.331278026104	0.15128	T	0.733757	0.92569	D	-0.0923975	0.37681	T	-0.269869	0.47831	T	0.902930974960327	0.55602	D	0.964504	0.86917	D	0.46331137	0.64877	0.3533899	0.60901	0.46331137	0.64877	0.3533899	0.60900	-10.955	0.83114	D	.	.	0.444	0.61897	A	.;.;.;.;.;.	.;.;.;.;.;.	3.868247	0.56145	23.7	0.99561955453019102	0.71831	0.65709	0.32828	D	AEFGBCI	0.455647	0.50784	N	-0.00393742349559354	0.41677	2.497178	-0.0886484853728884	0.35857	2.07961	0.00460739804388586	0.10636	0.743674	0.98306	0	0.635938	0.57008	0	0.630245	0.45026	0	0.691587	0.68394	0	.	.	5.46	1.32	0.20897	2.636000	0.46211	2.234000	0.31556	0.676000	0.76740	0.997000	0.40164	0.994000	0.32194	0.988000	0.63387	0.0:0.0:0.4021:0.5979	15.480	0.75249	859	0.33891	.;Patatin-like phospholipase domain|Patatin-like phospholipase domain;Patatin-like phospholipase domain|Patatin-like phospholipase domain;.;Patatin-like phospholipase domain|Patatin-like phospholipase domain;Patatin-like phospholipase domain|Patatin-like phospholipase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	259.98	33	chr7	108497552	.	G	C	259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.314;DP=715;ExcessHet=0.0000;FS=1.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.12;ReadPosRankSum=0.097;SOR=1.179	GT:AD:DP:GQ:PL	0/1:20,12:32:99:274,0,515	20	0	1	0
chr7	124032406	124032408	GCT	-	exonic	TMEM229A	.	nonframeshift deletion	TMEM229A:NM_001136002:exon1:c.596_598del:p.Q200del,	.	.	414	602	321	84	101	590	0.288836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8600.32	36	chr7	124032402	.	CGCTGCT	C,CGCT	8600.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-6.570e-01;DP=1005;ExcessHet=0.9430;FS=4.707;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.410;SOR=0.923	GT:AD:DP:GQ:PL	1/1:0,51,0:51:99:2291,154,0,2291,154,2291	13	1	6	0
chr7	128400517	128400517	G	A	exonic	IMPDH1	.	nonsynonymous SNV	IMPDH1:NM_001142575:exon4:c.C272T:p.T91M	Leber congenital amaurosis 11;Retinitis pigmentosa 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1027708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.305	B	0.105	B	0.000	D	1.000	D	1.555	L	-3.66	D	0.495	D	0.752	D	0.949	2.720	15.06	5.15	2.409	9.858	16.142	0.659	0.141696983127	.	0.000199681	1.85e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs530528335	9.586e-06	9.577e-06	1.226e-05	6.882e-06	8.126e-05	5.56e-06	4.35e-06	3.77e-05	2.665e-05	2.989e-05	0	0	0	0	0	5.396e-06	0	8.126e-05	4.594e-05	4.592e-05	2.569e-05	6.71e-05	0.0002	2.107e-05	1.525e-05	6.266e-05	4.288e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.321	0.19927	T	0.248	0.27855	T	0.028	0.27095	B	0.027	0.21085	B	0.000001	0.84330	D	0.095573	1	0.81001	D	.	.	.	-3.66	0.95212	D	-1.35	0.37178	N	0.839	0.87265	0.495	0.90474	D	0.752	0.91536	D	10	0.49839535	0.61402	T	0.141697	0.82411	D	0.659	0.87234	.	.	0.78100004795	0.77897	0.7433154365887518	0.74277	0.738825806396	0.63122	0.839280128479	0.87985	D	0.215948	0.63901	T	0.353082	0.86714	D	0.453418	0.93666	D	0.254949433101476	0.23093	T	0.881912	0.60517	D	.	.	.	.	.	.	.	.	-9.518	0.72851	D	.	.	0.099	0.47283	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.737730	0.76369	26.5	0.97739357165425023	0.35671	0.97673	0.76317	D	AEFBCI	0.969631	0.99200	D	0.238174457627736	0.53058	3.476386	0.397822843302873	0.61430	4.343057	0.99999999994793	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	9.992000	0.99232	8.686000	0.78060	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.142	0.81346	486	0.77016	.;.;.;.;IMP dehydrogenase/GMP reductase|CBS domain|CBS domain|IMP dehydrogenase/GMP reductase;.;IMP dehydrogenase/GMP reductase|CBS domain|CBS domain|IMP dehydrogenase/GMP reductase;.;IMP dehydrogenase/GMP reductase|CBS domain|CBS domain;CBS domain|CBS domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1190.98	38	chr7	128400517	.	G	A	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=806;ExcessHet=0.0000;FS=2.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-3.130e-01;SOR=1.021	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1205,0,1475	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.895	N	2.82	T	-0.911	T	0.159	T	0.493	-1.114	0.131	-3.33	-0.521	-0.728	3.406	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3229.78	206	chr7	128479325	.	T	C	3229.78	.	AC=9;AF=0.300;AN=30;BaseQRankSum=2.39;DP=4419;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4018;MLEAC=11;MLEAF=0.367;MQ=57.67;MQRankSum=-1.368e+01;QD=1.57;ReadPosRankSum=-3.614e+00;SOR=5.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,21:197:99:0|1:128479325_T_C:345,0,7305:128479325	6	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S,	.	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.345	N	2.87	T	-0.882	T	0.184	T	0.33	-1.681	0.012	-0.54	0.001	-0.407	1.070	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	3281.73	207	chr7	128479326	.	G	C	3281.73	.	AC=9;AF=0.300;AN=30;BaseQRankSum=1.60;DP=4446;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4190;MLEAC=11;MLEAF=0.367;MQ=57.73;MQRankSum=-1.377e+01;QD=1.60;ReadPosRankSum=-3.844e+00;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,21:197:99:0|1:128479325_T_C:345,0,7305:128479325	6	0	9	6
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	1/2:0,9,16:25:99:1044,671,672,373,0,325	5	3	3	0
chr7	135010174	135010174	G	A	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_001367815:exon4:c.G257A:p.R86H	.	.	766	749	4	3	0	10	0.0066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	.	.	.	.	.	.	1.000	N	.	.	1.16	T	-1.031	T	0.013	T	0.029	-3.916	0.001	-0.298	-2.759	-2.185	.	0.018	.	.	0.00479233	0.0129	0	0	0	.	0	0	0.0204	0.0007633	118	154602	rs140099230	0.0031	0.0013	0.0017	0.0041	0.0122	0.0029	0.0028	0.0114	0.0110	0	0.0005	0	0.0104	0	0.0056	0.0003	0.0009	0.0122	0.0008	0.0008	0.0006	0.0010	0.0106	0.0006	0.0006	0.0083	0.0075	7.226e-05	0	6.544e-05	0	0.0077	0	0	0.0003	0.0005	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	71.5	1	chr7	135010174	.	G	A	71.5	.	AC=2;AF=0.059;AN=34;DP=42;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2305;MLEAC=2;MLEAF=0.059;MQ=60.00;QD=23.83;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0	16	1	0	4
chr7	138739614	138739614	T	C	exonic	ATP6V0A4	.	nonsynonymous SNV	ATP6V0A4:NM_130840:exon14:c.A1498G:p.S500G	Renal tubular acidosis, distal, autosomal recessive	YES	1	1494	26	1	0	28	0.00928382	.	.	309838	Distal_Renal_Tubular_Acidosis,_Recessive|not_provided|Autosomal_recessive_distal_renal_tubular_acidosis|not_specified	MedGen:CN239177|MedGen:C3661900|MONDO:MONDO:0018440,MedGen:C1864498,Orphanet:402041|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.002	B	0.102	N	1.000	N	-1.37	N	-2.04	D	-0.845	T	0.216	T	0.054	1.732	11.75	5.25	1.965	5.213	7.847	0.351	.	0.0002	0.00279553	0.0027	0	0.0008	0	0	0.0005	0.0066	0.0172	0.0023156	358	154602	rs142818468	0.0013	0.0013	0.0008	0.0018	0.0163	0.0013	0.0012	0.0156	0.0153	0.0002	0.0006	3.826e-05	0	1.873e-05	0.0040	0.0003	0.0012	0.0163	0.0008	0.0008	0.0007	0.0010	0.0118	0.0007	0.0007	0.0094	0.0085	7.219e-05	0	0.0012	0	0	0	0	0.0007	0.0014	0.0118	0.038	0.42783	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.101629	0.19830	N	0.526300	1	0.08975	N	0.285	0.10073	N	-2.04	0.85703	D	-1.13	0.29114	N	0.212	0.23632	-0.8450	0.52311	T	0.216	0.57732	T	10	0.0043908656	0.00089	T	.	.	.	0.351	0.67234	.	.	0.759034660513	0.75684	0.39776035607268057	0.39691	0.177074262078	0.19922	0.288669228554	0.08729	T	0.158114	0.50101	T	-0.47229	0.00823	T	-0.438214	0.29010	T	0.0199759674891632	0.00698	T	0.169783	0.01594	T	0.13728155	0.31792	0.07137801	0.15278	0.104006514	0.24584	0.06865264	0.14364	-4.465	0.30428	T	0.21579293709666367	0.29017	0.089	0.13550	B	.;.;.;.;.;.	.;.;.;.;.;.	2.459375	0.31677	18.81	0.96525507524474463	0.30133	0.75042	0.36726	D	AEFBHCI	0.422363	0.48840	N	-0.650970891474921	0.17432	0.8969671	-0.49214327649808	0.22369	1.214642	0.999778323642658	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.25	5.25	0.73169	5.200000	0.64994	5.035000	0.46860	0.665000	0.62972	0.724000	0.28861	0.929000	0.28499	0.017000	0.10941	0.0:0.1561:0.0:0.8439	7.847	0.28594	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	0.02381	723.98	36	chr7	138739614	.	T	C	723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.474e+00;DP=767;ExcessHet=0.0000;FS=2.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-1.233e+00;SOR=0.976	GT:AD:DP:GQ:PL	0/1:32,30:62:99:738,0,871	20	0	1	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,53,0,0:53:99:2307,160,0,2307,160,2307,2307,160,2307,2307	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,53,0,0:53:99:2307,160,0,2307,160,2307,2307,160,2307,2307	0	16	2	0
chr7	142868978	142868978	G	A	exonic	EPHB6	.	nonsynonymous SNV	EPHB6:NM_001280795:exon12:c.G1412A:p.R471Q	.	.	403	1103	16	0	0	16	0.00720072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.147	B	0.018	B	0.018	N	0.945	D	0.925	L	-1.63	D	-0.451	T	0.324	T	0.132	3.487	17.84	4.49	2.613	2.725	7.127	0.283	0.00848054263083	0.0005	0.00159744	0.0009	0	0.0007	0	0	0.0007	0.0012	0.0032	0.000815	126	154602	rs148701267	0.0008	0.0008	0.0007	0.0009	0.0033	0.0007	0.0007	0.0025	0.0024	0.0001	0.0007	7.66e-05	0	2.072e-05	0.0033	0.0007	0.0010	0.0027	0.0006	0.0006	0.0005	0.0007	0.0031	0.0005	0.0004	0.0019	0.0015	0.0002	0	0.0012	0	0	0	0.0136	0.0006	0.0019	0.0031	.	.	.	0.199	0.33554	T	.	.	.	.	.	.	0.017513	0.27706	N	0.174743	0.945313	0.37483	D	.	.	.	.	.	.	.	.	.	0.125	0.11912	-0.4505	0.70383	T	0.324	0.69229	T	10	0.007946998	0.00180	T	0.008481	0.22432	T	0.283	0.60100	.	.	0.591671430083	0.58844	0.6717070351229959	0.67108	.	.	0.383529484272	0.22756	T	0.221759	0.58542	T	-0.495684	0.00604	T	-0.489096	0.23486	T	0.042308587379253	0.04112	T	0.908009	0.67517	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10691	B	.;.;.	.;.;.	4.365559	0.67173	25.1	0.99817613867474131	0.90061	0.84970	0.44068	D	AEFDBI	0.431499	0.49376	N	-0.0450427405250223	0.39823	2.354834	0.131557615245748	0.46171	2.867579	0.999967080721944	0.48965	0.626454	0.40138	0	0.547309	0.14657	0	0.80507	0.99327	0	0.567892	0.33627	0	.	.	5.56	4.49	0.54177	4.633000	0.61016	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.2254:0.0:0.7746:0.0	7.127	0.24654	715	0.56137	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	968.98	36	chr7	142868978	.	G	A	968.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.46;DP=849;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=0.609;SOR=0.979	GT:AD:DP:GQ:PL	0/1:33,33:66:99:983,0,716	20	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,19:107:99:0|1:143478290_A_G:175,0,3153:143478290	3	0	18	0
chr7	149725356	149725356	T	A	exonic	KRBA1	.	nonsynonymous SNV	KRBA1:NM_001290187:exon10:c.T1270A:p.C424S	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.999	D	0.964	D	0.000	D	0.625	D	1.04	L	1.39	T	-0.767	T	0.136	T	0.699	4.240	22.1	5.18	1.962	3.721	11.450	0.166	0.0161150417761	.	0.000998403	0.0005	0	0	0	0	0	0	0.0029	0.0002587	40	154602	rs565841314	0.0001	0.0001	6.022e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	0	4.994e-05	0.0024	8.537e-05	8.529e-05	7.71e-05	9.401e-05	0.0025	4.954e-05	3.96e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0.0005	0.0025	0.051	0.39334	T	0.765	0.06109	T	0.999	0.77913	D	0.964	0.71005	D	0.000180	0.48594	D	0.000000	0.625138	0.32740	D	1.83	0.48079	L	1.38	0.34050	T	-8.0	0.96495	D	0.897	0.94077	-0.7674	0.57000	T	0.136	0.45087	T	10	0.08437422	0.14135	T	0.016115	0.37217	T	0.166	0.42578	0.386	0.40624	0.202086224978	0.19791	0.1872183702955702	0.18639	.	.	0.57913339138	0.49963	T	0.24433	0.61343	T	-0.286004	0.10040	T	-0.189768	0.55612	T	0.226336672930115	0.21776	T	0.649135	0.25986	T	0.2113313	0.43455	0.26275736	0.52072	0.2113313	0.43455	0.26275736	0.52071	-6.492	0.55911	T	.	.	0.569	0.72749	P	.;.;.	.;.;.	4.441087	0.68956	25.3	0.99189511283880993	0.54935	0.85562	0.44707	D	AEFBCI	0.538962	0.55614	D	0.494937772888738	0.66793	4.996358	0.508521057025757	0.68562	5.237247	0.999999767913205	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.18	5.18	0.71140	2.477000	0.44839	7.824000	0.69857	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	11.450	0.49390	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1366.98	35	chr7	149725356	.	T	A	1366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.163;DP=788;ExcessHet=0.0000;FS=1.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-3.440e-01;SOR=0.487	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1381,0,1040	20	0	1	0
chr7	151064613	151064613	C	T	exonic	SLC4A2	.	nonsynonymous SNV	SLC4A2:NM_001199693:exon3:c.C278T:p.P93L	.	.	409	1093	20	0	0	20	0.00906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.004	B	0.009	B	0.050	N	0.862	N	1.39	L	1.56	T	-0.762	T	0.245	T	0.206	2.216	13.37	2.91	0.586	-0.237	5.739	0.057	0.0715997310659	0.0006	0.000399361	0.0010	9.837e-05	0.0020	0	0	0.0012	0.0034	0.0008	0.0009767	151	154602	rs146857685	0.0008	0.0008	0.0008	0.0008	0.0256	0.0008	0.0007	0.0221	0.0208	0.0005	0.0021	0.0029	0	1.874e-05	0.0256	0.0006	0.0017	0.0008	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0024	0.0021	0.0002	0	0.0031	0.0026	0	0	0.0102	0.0011	0.0038	0.0004	0.024	0.48642	D	0.221	0.25827	T	0.002	0.12183	B	0.004	0.14300	B	0.050366	0.23077	N	0.478491	0.920733	0.28346	N	1.1	0.28011	L	0.97	0.74053	T	-2.49	0.54217	N	0.241	0.27197	-0.7624	0.57275	T	0.245	0.61436	T	10	0.008913398	0.00202	T	0.072	0.71312	D	0.057	0.16321	.	.	0.464188422262	0.46044	0.20815250473220942	0.20731	0.514846979107	0.49409	0.524394869804	0.42245	T	0.023173	0.32031	T	-0.403854	0.02184	T	-0.366115	0.37344	T	0.00974501270101722	0.00128	T	0.80202	0.44827	T	0.044927947	0.07265	0.035186734	0.02724	0.044927947	0.07265	0.035186734	0.02724	-4.828	0.34916	T	.	.	0.079	0.14201	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.152937	0.27425	17.46	0.98031118972330555	0.37712	0.55553	0.29893	D	AEFBHCI	0.258834	0.37730	N	-0.493822471254174	0.22282	1.188729	-0.42324928924823	0.24317	1.330918	0.999998137556417	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.76	2.91	0.32903	0.580000	0.23505	2.161000	0.30982	0.599000	0.40250	0.000000	0.06391	0.076000	0.22303	0.802000	0.37819	0.191:0.7103:0.0:0.0987	5.739	0.17353	878	0.29785	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	710.98	51	chr7	151064613	.	C	T	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.970e-01;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=0.712;SOR=0.770	GT:AD:DP:GQ:PL	0/1:27,26:53:99:725,0,742	20	0	1	0
chr7	151066958	151066958	C	T	exonic	SLC4A2	.	nonsynonymous SNV	SLC4A2:NM_001199693:exon6:c.C904T:p.R302W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.995	D	0.785	P	0.003	N	1.000	D	1.65	L	-1.03	T	-0.179	T	0.446	T	0.557	4.291	22.4	3.74	1.114	3.330	9.668	0.333	0.496893190781	7.7e-05	.	8.594e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs35016052	8.236e-06	9.577e-06	5.463e-06	1.104e-05	6.035e-05	4.39e-06	3.47e-06	9.99e-06	3.74e-06	6.035e-05	0	0	0	0	0	9.005e-06	0	0	1.315e-05	1.313e-05	2.57e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.004	0.68238	D	0.011	0.64786	D	0.983	0.63424	D	0.405	0.51788	B	0.003268	0.35183	N	0.229197	0.999807	0.49283	D	2.3	0.65703	M	-1.03	0.76430	T	-2.42	0.53258	N	0.493	0.52651	-0.1786	0.78215	T	0.446	0.78191	T	10	0.4582762	0.59125	T	0.496893	0.95089	D	0.333	0.65522	.	.	0.63773577826	0.63475	0.48697870196597765	0.48617	1.197488769	0.80448	0.794492483139	0.81126	T	0.24799	0.61772	T	-0.127835	0.31845	T	-0.141968	0.59947	T	0.583472788333893	0.35752	D	0.960904	0.85339	D	0.08390903	0.19398	0.09113385	0.21410	0.08390903	0.19398	0.09113385	0.21410	-4.565	0.31729	T	.	.	0.159	0.41063	B	.;.;.;.	.;.;.;.	4.436573	0.68840	25.3	0.99924873647459567	0.98980	0.88661	0.48694	D	AEFBCI	0.619752	0.60507	D	0.312282863632556	0.56779	3.843178	0.295061551808944	0.55249	3.688251	0.999999549024225	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.65	3.74	0.42108	2.937000	0.48672	3.738000	0.39641	0.583000	0.30283	0.990000	0.36992	0.999000	0.35428	0.917000	0.45243	0.2078:0.7922:0.0:0.0	9.668	0.39163	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1959.98	48	chr7	151066958	.	C	T	1959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.940e-01;DP=985;ExcessHet=0.0000;FS=0.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=0.948;SOR=0.716	GT:AD:DP:GQ:PL	0/1:77,86:163:99:1974,0,1733	20	0	1	0
chr7	155071450	155071450	C	T	exonic	HTR5A	.	nonsynonymous SNV	HTR5A:NM_024012:exon1:c.C551T:p.T184M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.996	D	0.919	D	0.000	D	1.000	D	2.14	M	1.17	T	-0.771	T	0.188	T	0.598	2.972	15.91	3.78	1.196	4.454	12.854	0.200	0.0284472445562	.	0.000199681	0.0003	9.623e-05	0	0	0	1.501e-05	0.0022	0.0019	0.0002393	37	154602	rs569927491	0.0002	0.0002	0.0001	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	8.961e-05	0	0	0	0	0.0003	3.507e-05	0.0002	0.0020	0.0001	0.0001	0.0001	0.0001	0.0017	7.57e-05	6.276e-05	0.0008	0.0006	0.0002	0	0	0	0	0	0	2.94e-05	0	0.0017	0.053	0.38863	T	0.039	0.51112	D	0.996	0.68779	D	0.919	0.65474	D	0.000000	0.84330	D	0.047774	0.999995	0.81001	D	2.405	0.69568	M	1.17	0.37910	T	-1.62	0.38924	N	0.661	0.67045	-0.7710	0.56803	T	0.188	0.53827	T	10	0.03589827	0.01861	T	0.028447	0.51122	D	0.200	0.48430	0.463	0.53242	0.770394142349	0.76829	0.6810558736863431	0.68044	0.447049120517	0.44571	0.581177353859	0.50251	T	0.208896	0.56896	T	-0.353516	0.04510	T	-0.287842	0.45995	T	0.0607763927842921	0.07290	T	0.949005	0.80370	D	0.19906025	0.41831	0.3077737	0.56798	0.19906025	0.41831	0.3077737	0.56797	-6.581	0.50907	T	.	.	0.081	0.08320	B	.;.	.;.	4.000133	0.58941	24.0	0.99825664608293474	0.90764	0.82990	0.42148	D	AEFDBCI	0.415022	0.48405	N	0.489409344302864	0.66469	4.954278	0.412443714762061	0.62339	4.447701	0.944925985339543	0.27637	0.59774	0.34471	0	0.573888	0.26702	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.66	3.78	0.42629	4.675000	0.61310	1.680000	0.28007	0.599000	0.40250	1.000000	0.71638	0.990000	0.31317	0.897000	0.43391	0.0:0.9216:0.0:0.0784	12.854	0.57263	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1693.98	41	chr7	155071450	.	C	T	1693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=939;ExcessHet=0.0000;FS=1.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-5.260e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1708,0,1395	20	0	1	0
chr7	155803487	155803487	C	G	exonic	SHH	.	nonsynonymous SNV	SHH:NM_000193:exon3:c.G802C:p.A268P,	Holoprosencephaly 3, Autosomal dominant;Microphthalmia with coloboma 5, Autosomal dominant;Schizencephaly;Single median maxillary central incisor, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.258	B	0.228	B	0.000	D	1.000	D	0.75	N	-4.86	D	0.549	D	0.830	D	0.363	0.456	6.476	4.12	2.129	2.541	12.454	0.531	0.929908519365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.258	0.31443	B	0.121	0.32300	B	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.05	0.26816	L	-4.86	0.98263	D	-1.27	0.31981	N	0.251	0.28381	0.549	0.91219	D	0.830	0.94295	D	10	0.45045885	0.58665	T	0.929909	0.99492	D	0.531	0.80247	0.576	0.70087	0.771053052823	0.76896	0.9580671174330196	0.95791	.	.	0.931257367134	0.99057	D	0.728189	0.92371	D	0.127049	0.67072	D	-0.0552787	0.66660	D	0.868822753429413	0.51878	D	0.829317	0.49436	T	0.5914908	0.72232	0.64632607	0.79320	0.5914908	0.72233	0.64632607	0.79321	-0.13	0.00398	T	0.1364687507270471	0.14926	0.298	0.52801	B	.	.	4.011149	0.59175	24.1	0.92751686068945594	0.22259	0.80006	0.39762	D	AEFDBCI	0.447214	0.50295	N	-0.271550458432851	0.30252	1.685053	-0.113508721973917	0.34844	2.008991	0.999999901268653	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616487	0.41570	0	0.554799	0.18163	0	.	.	4.12	4.12	0.47504	2.123000	0.41620	2.971000	0.35798	0.547000	0.25779	0.971000	0.34370	0.997000	0.33255	0.985000	0.61073	0.0:0.8311:0.1688:0.0	12.454	0.55031	994	0.00715	Hedgehog protein, Hint domain|Hint domain N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	798.98	34	chr7	155803487	.	C	G	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=779;ExcessHet=0.0000;FS=3.358;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-1.124e+00;SOR=0.386	GT:AD:DP:GQ:PL	0/1:35,32:67:99:813,0,841	20	0	1	0
chr7	158138399	158138399	C	T	exonic	PTPRN2	.	nonsynonymous SNV	PTPRN2:NM_001308267:exon6:c.G913A:p.V305M	.	.	428	1081	12	1	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.029	B	0.01	B	0.016	N	1.000	N	0	N	4.01	T	-0.942	T	0.001	T	0.033	1.383	10.56	2.14	0.316	0.799	9.315	0.043	.	0.0023	0.0313498	0.0109	0.0077	0.0012	0.0909	0	0.0005	0.0078	0.0239	0.0102521	1585	154602	rs3752368	0.0044	0.0044	0.0039	0.0049	0.0788	0.0043	0.0043	0.0765	0.0755	0.0046	0.0009	0.0012	0.0788	0.0001	0.0049	0.0005	0.0078	0.0240	0.0060	0.0060	0.0055	0.0066	0.0881	0.0057	0.0056	0.0814	0.0788	0.0055	0	0.0024	0.0012	0.0881	0	0	0.0006	0.0080	0.0280	0.058	0.37750	T	0.254	0.33109	T	0.011	0.15914	B	0.01	0.14941	B	0.016495	0.01442	N	5.222610	1	0.08975	N	-0.205	0.04094	N	4.0	0.03239	T	-0.67	0.24026	N	0.041	0.01999	-0.9420	0.42298	T	0.001	0.00222	T	10	0.0018531382	0.00025	T	.	.	.	0.043	0.11576	.	.	.	.	0.19352542145355858	0.19270	0.21105830166	0.23610	0.35255536437	0.18298	T	0.037307	0.24427	T	-0.75878	0.00015	T	-0.789753	0.02171	T	0.00521713098286543	0.00056	T	0.607939	0.22935	T	0.032459017	0.03276	0.04098939	0.04556	0.032459017	0.03276	0.04098939	0.04556	-4.279	0.27881	T	.	.	0.106	0.19518	B	.;.;.;.;.	.;.;.;.;.	1.776088	0.22581	15.68	0.98901470143024783	0.48199	0.04713	0.10405	N	AEFDBI	0.059161	0.11153	N	-1.26468757244082	0.04109	0.1848191	-1.24532862616526	0.05200	0.2472159	0.609200251937581	0.21790	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.15	2.14	0.26518	1.086000	0.30464	0.085000	0.14440	-0.174000	0.10959	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1426:0.7662:0.0:0.0912	9.315	0.37090	976	0.04745	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1102.98	34	chr7	158138399	.	C	T	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.850e-01;DP=1146;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=-6.600e-02;SOR=0.693	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1117,0,1524	20	0	1	0
chr7	158192365	158192365	C	T	exonic	PTPRN2	.	nonsynonymous SNV	PTPRN2:NM_001308267:exon4:c.G397A:p.A133T	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.003	B	0.001	B	.	.	1.000	N	0.695	N	4.01	T	-0.903	T	0.005	T	0.103	1.743	11.79	-1.21	-0.399	0.596	1.995	0.015	0.00837460799678	0.0002	0.00159744	0.0011	0.0001	0.0008	0	0	0.0005	0.0024	0.0055	0.0009314	144	154602	rs137877535	0.0006	0.0006	0.0005	0.0007	0.0134	0.0006	0.0006	0.0109	0.0100	0.0011	0.0008	0.0038	3.004e-05	0	0.0134	0.0003	0.0012	0.0042	0.0008	0.0008	0.0008	0.0009	0.0032	0.0007	0.0007	0.0025	0.0022	0.0002	0	0.0032	0.0040	0	0	0.0204	0.0005	0.0019	0.0031	0.153	0.24372	T	0.478	0.18449	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	3.99	0.03268	T	-0.62	0.18248	N	0.032	0.01347	-0.9027	0.47705	T	0.005	0.01578	T	9	0.006252885	0.00141	T	0.008375	0.22156	T	0.015	0.02232	.	.	0.193865811164	0.18958	0.30869415256813404	0.30782	0.20139288257	0.22538	0.301668405533	0.10650	T	0.021303	0.16611	T	-0.687625	0.00043	T	-0.760372	0.03099	T	0.00183340709190816	0.00019	T	0.553645	0.19140	T	0.030271849	0.02661	0.049551606	0.07596	0.030271849	0.02660	0.049551606	0.07596	-4.288	0.28387	T	.	.	0.089	0.12228	B	.;.;.;.;.	.;.;.;.;.	0.704547	0.10733	7.424	0.93835865544039976	0.23826	0.01178	0.04227	N	AEFDBI	0.035932	0.04707	N	-1.4847882601888	0.01957	0.085926	-1.5130027267807	0.02244	0.1028931	7.99934075342978E-4	0.07826	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.17	-1.21	0.09033	0.255000	0.18102	-0.045000	0.12619	-1.383000	0.01158	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1803:0.2879:0.3897:0.1421	1.995	0.03245	952	0.10565	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1560.98	98	chr7	158192365	.	C	T	1560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.036e+00;DP=1384;ExcessHet=0.0000;FS=7.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.275;SOR=0.384	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1575,0,1370	20	0	1	0
chr8	7333465	7333465	T	C	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.T1079C:p.I360T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0035	0.0003	0.0005	0.0005	0.0018	0.0058	0.0006	0.0002305	6	26028	rs34694498	0.0011	0.0015	0.0011	0.0010	0.0239	0.0010	0.0010	0.0222	0.0216	0.0239	0.0008	0.0221	0.0002	1.875e-05	0.0024	0.0002	0.0025	0.0004	0.0020	0.0030	0.0020	0.0020	0.0041	0.0018	0.0017	0.0035	0.0032	0.0041	0	0.0013	0.0310	0.0002	9.479e-05	0.0035	0.0003	0.0035	0.0011	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.28	0.00102	N	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.0036797523	0.00067	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.017750023390102034	0.01730	.	.	0.464870512486	0.33978	T	0.00513	0.04570	T	-0.541095	0.00330	T	-0.515714	0.20730	T	.	.	.	0.09979	0.00741	T	0.053478066	0.10124	0.14879099	0.35158	0.053478066	0.10124	0.14879099	0.35157	1.713	0.00068	T	.	.	0.060	0.00949	B	.	.	-0.063993	0.03861	0.836	0.41988794801332069	0.03065	0.00114	0.00722	N	AEFI	.	.	.	.	.	.	.	.	.	2.64292858926194E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0448725	0.03863	0.472	-0.815	0.10296	-0.111000	0.10778	0.165000	0.15451	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	994	0.00715	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	0.02381	1303.98	36	chr8	7333465	.	T	C	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=957;ExcessHet=0.0000;FS=0.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.64;MQRankSum=-9.546e+00;QD=6.30;ReadPosRankSum=2.03;SOR=0.759	GT:AD:DP:GQ:PL	0/1:143,64:207:99:1318,0,3786	20	0	1	0
chr8	7977010	7977010	C	T	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.G976A:p.A326T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.126e-05	8.758e-06	0	2.196e-05	5.789e-05	0	0	.	.	5.789e-05	0	0	0	0	0	0	0	0	3.37e-05	2.457e-05	0	7.21e-05	0.0023	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0023	.	.	.	0.713	0.05470	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.265	0.31966	L	.	.	.	.	.	.	0.091	0.06990	.	.	.	.	.	.	.	0.13614684	0.25905	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.004773605157395625	0.00449	.	.	0.484179139137	0.36633	T	0.001743	0.01167	T	-0.113341	0.34216	T	-0.400583	0.33317	T	.	.	.	0.114689	0.00872	T	0.06647373	0.14306	0.19292812	0.42833	0.06647373	0.14306	0.19292812	0.42832	-6.083	0.46969	T	.	.	0.083	0.09239	B	.	.	0.361204	0.07339	3.955	0.80423063607202594	0.13196	0.05280	0.11122	N	AEFI	.	.	.	.	.	.	.	.	.	1.49046146947392E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0833892	0.19034	.	.	.	0.436000	0.21244	-7.180000	0.01213	-2.032000	0.00429	0.998000	0.41325	0.000000	0.08366	0.001000	0.02609	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09091	37.11	34	chr8	7977010	.	C	T	37.11	.	AC=2;AF=0.091;AN=22;DP=122;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3617;MLEAC=2;MLEAF=0.091;MQ=24.00;QD=18.56;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	10	1	0	10
chr8	8376610	8376610	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.G1799A:p.R600Q	.	.	416	1096	9	1	0	11	0.00499319	.	.	3378792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.059	B	0.005	B	0.588	N	1.000	N	0.55	N	0.52	T	-1.039	T	0.076	T	0.078	1.755	11.83	0.946	0.248	-0.207	4.117	0.029	0.00942722869921	0.0006	0.000199681	0.0005	0.0003	0.0007	0	0	0.0006	0.0024	0.0002	0.0004398	68	154602	rs199706360	0.0004	0.0004	0.0004	0.0004	0.0241	0.0004	0.0004	0.0208	0.0196	0.0004	0.0007	0.0006	2.529e-05	3.812e-05	0.0241	0.0003	0.0010	0.0005	0.0006	0.0006	0.0007	0.0005	0.0014	0.0005	0.0005	0.0007	0.0006	0.0002	0	0.0011	0.0014	0	0	0.0204	0.0006	0.0028	0.0014	.	.	.	0.484	0.11760	T	.	.	.	.	.	.	0.588319	0.11074	N	0.790413	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.077	0.07262	-1.0387	0.17709	T	0.076	0.30584	T	10	0.0119178295	0.00258	T	0.009427	0.24716	T	.	.	.	.	0.0482279557977	0.04254	0.15685933987224282	0.15606	.	.	0.234855204821	0.02346	T	0.007386	0.06799	T	-0.52721	0.00399	T	-0.618023	0.11340	T	0.0101889614287345	0.00138	T	0.687731	0.29668	T	0.0672992	0.14560	0.03747112	0.03407	0.0672992	0.14560	0.03747112	0.03407	-3.551	0.17153	T	.	.	0.075	0.05317	B	.;.	.;.	0.498558	0.08677	5.448	0.97472187580351977	0.34141	0.11273	0.16524	N	AEFDBHCI	0.042692	0.06656	N	-0.973298334379685	0.09177	0.4332447	-0.978407885282487	0.10270	0.516215	0.999998972464268	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.04	0.946	0.18674	0.056000	0.14136	-2.838000	0.03310	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.3171:0.1847:0.4982	4.117	0.09555	925	0.17918	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	992.98	79	chr8	8376610	.	C	T	992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=1587;ExcessHet=0.0000;FS=0.839;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=-2.403e+00;SOR=0.558	GT:AD:DP:GQ:PL	0/1:46,36:82:99:1007,0,1202	20	0	1	0
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:194,0,40:234:99:0|1:10609947_C_G:142,720,6758,0,6038,5926:10609947	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:194,0,40:234:99:0|1:10609947_C_G:142,720,6758,0,6038,5926:10609947	0	0	15	4
chr8	13090358	13090358	T	A	exonic	DLC1	.	nonsynonymous SNV	DLC1:NM_001348084:exon10:c.A2435T:p.H812L	Colorectal cancer, somatic	.	432	1089	1	0	0	1	0.000458926	.	.	2931703	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.7	T	0.082	B	0.037	B	0.015	N	0.747	D	0	N	3.69	T	-0.975	T	0.008	T	0.467	0.126	4.675	4.16	1.152	3.268	4.717	0.100	0.0052676611577	.	.	0.0004	0	0.0003	0	0	6.004e-05	0.0033	0.0025	0.0003363	52	154602	rs778690040	0.0003	0.0003	0.0002	0.0004	0.0026	0.0002	0.0002	0.0023	0.0022	8.961e-05	0	0	0	0	0.0014	0.0001	0.0002	0.0026	9.851e-05	9.843e-05	6.426e-05	0.0001	0.0015	6.004e-05	4.877e-05	0.0007	0.0005	2.406e-05	0	0	0	0	0	0	0.0001	0	0.0015	0.827	0.09866	T	0.355	0.17217	T	0.002	0.24665	B	0.029	0.23121	B	0.014670	0.28464	N	0.391386	0.989794	0.24906	N	0.55	0.14455	N	3.69	0.05249	T	-0.74	0.22508	N	0.494	0.52740	-0.9751	0.36104	T	0.008	0.02842	T	10	0.014531583	0.00305	T	0.005268	0.13464	T	0.100	0.28662	0.57	0.69299	0.250512400709	0.24649	0.46098207361097154	0.46016	0.0323103836565	0.03370	0.469339609146	0.34589	T	0.067829	0.33301	T	-0.473752	0.00806	T	-0.458526	0.26759	T	0.0615247676180029	0.07406	T	0.883212	0.60517	D	0.076295234	0.17246	0.043446913	0.05408	0.076295234	0.17245	0.043446913	0.05407	-3.972	0.23609	T	.	.	0.092	0.13783	B	.;.;.;.	.;.;.;.	2.959121	0.39404	21.0	0.87690498063701317	0.17410	0.75055	0.36733	D	AEFDBCI	0.215200	0.34058	N	-0.40116963625786	0.25428	1.380283	-0.179050278288097	0.32309	1.836794	0.999194846735511	0.38711	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.32	4.16	0.48138	2.827000	0.47813	3.548000	0.39035	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.167:0.2962:0.5368	4.717	0.12279	944	0.12746	START domain|START domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1408.98	35	chr8	13090358	.	T	A	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.900e-01;DP=794;ExcessHet=0.0000;FS=3.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=1.54;SOR=0.385	GT:AD:DP:GQ:PL	0/1:39,56:95:99:1423,0,994	20	0	1	0
chr8	17754037	17754037	T	C	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001924:exon2:c.A1771G:p.T591A	.	.	424	1076	21	1	0	23	0.0105747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.487	P	0.203	B	0.017	N	1.000	N	0.975	L	3.14	T	-1.038	T	0.059	T	0.245	1.613	11.35	3.74	0.963	-0.003	4.669	0.029	.	8.3e-05	0.00379393	0.0024	0.0003	8.639e-05	0.0001	0	0.0003	0.0022	0.0157	0.0020763	321	154602	rs200539556	0.0012	0.0012	0.0007	0.0017	0.0173	0.0011	0.0011	0.0166	0.0163	2.987e-05	0.0002	0	5.038e-05	0	0.0059	9.263e-05	0.0011	0.0173	0.0006	0.0006	0.0003	0.0008	0.0131	0.0005	0.0004	0.0105	0.0095	2.406e-05	0	0	0	0	0	0	0.0003	0.0005	0.0131	0.005	0.63226	D	0.093	0.39799	T	0.096	0.36886	B	0.038	0.37000	B	0.016904	0.27856	N	0.297831	0.824439	0.29019	N	1.32	0.33002	L	3.14	0.35590	T	-1.76	0.41618	N	0.195	0.27910	-1.0381	0.17893	T	0.059	0.24539	T	10	0.0043945312	0.00089	T	.	.	.	0.029	0.06676	.	.	0.398133443147	0.39430	0.09200691151694472	0.09133	.	.	0.293597280979	0.09449	T	0.016183	0.13427	T	-0.514338	0.00474	T	-0.497962	0.22560	T	0.0306784420219683	0.02096	T	0.620138	0.25952	T	0.14582437	0.33409	0.08430943	0.19385	0.16457364	0.36672	0.102871716	0.24667	-3.602	0.17973	T	.	.	0.090	0.18414	B	.;.;.	.;.;.	1.847264	0.23471	16.03	0.98489533472077961	0.42085	0.46262	0.27721	N	ALL	0.143488	0.26620	N	-0.217943700044761	0.32396	1.826658	-0.0923455780492205	0.35704	2.06891	0.999999916866603	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.95	3.74	0.42108	-0.137000	0.10369	1.074000	0.23831	0.665000	0.62972	0.914000	0.31788	1.000000	0.68203	1.000000	0.97212	0.0:0.1854:0.1614:0.6532	4.669	0.12065	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3139.98	33	chr8	17754037	.	T	C	3139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=922;ExcessHet=0.0000;FS=1.011;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=0.272;SOR=0.612	GT:AD:DP:GQ:PL	0/1:111,121:232:99:3154,0,2825	20	0	1	0
chr8	22138686	22138686	G	A	exonic	REEP4	.	nonsynonymous SNV	REEP4:NM_025232:exon7:c.C661T:p.R221C,	.	.	418	1093	11	0	0	11	0.00500683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.004	B	0.001	B	0.000	D	1.000	D	1.935	M	-2.44	D	-0.169	T	0.478	T	0.458	3.455	17.70	4.13	1.116	2.044	6.406	0.332	.	0.0043	0.00359425	0.0055	0.0015	0.0033	0.0001	0.0014	0.0061	0.0044	0.0115	0.0055303	855	154602	rs117450750	0.0056	0.0056	0.0053	0.0058	0.0119	0.0055	0.0054	0.0113	0.0110	0.0007	0.0041	0.0026	5.038e-05	0.0015	0.0054	0.0058	0.0047	0.0119	0.0046	0.0046	0.0045	0.0047	0.0095	0.0043	0.0042	0.0073	0.0066	0.0015	0.0385	0.0073	0.0012	0	0.0005	0.0068	0.0062	0.0038	0.0095	0.001	0.78490	D	0.002	0.79402	D	0.004	0.12183	B	0.001	0.04355	B	0.000034	0.55875	D	0.000000	0.957518	0.51612	D	3.115	0.87836	M	-2.44	0.88767	D	-3.37	0.66665	D	0.609	0.62611	-0.1694	0.78443	T	0.478	0.80002	T	10	0.007106751	0.00162	T	.	.	.	0.332	0.65424	.	.	0.727179310058	0.72475	0.48868743946425386	0.48788	0.896211288583	0.70471	0.547908902168	0.45563	T	0.238315	0.60619	T	-0.218068	0.18257	T	-0.0756281	0.65221	T	0.0834535804151129	0.10423	T	0.910709	0.68343	D	0.42042944	0.62120	0.24099955	0.49487	0.42042944	0.62121	0.24099955	0.49486	-10.273	0.75530	D	.	.	0.324	0.54825	B	.	.	4.753819	0.76787	26.6	0.99890622921302064	0.96513	0.86785	0.46142	D	AEFBHCI	0.408690	0.48027	N	-0.210266376894166	0.32713	1.847808	-0.134069674508256	0.34026	1.952779	0.999971961124785	0.50053	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	5.0	4.13	0.47661	1.672000	0.37139	8.524000	0.77433	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.908000	0.44358	0.0932:0.0:0.7266:0.1802	6.406	0.20867	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1701.98	33	chr8	22138686	.	G	A	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=826;ExcessHet=0.0000;FS=4.100;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=1.01;SOR=1.034	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1716,0,1818	20	0	1	0
chr8	22565871	22565871	G	A	exonic	SORBS3	.	nonsynonymous SNV	SORBS3:NM_005775:exon12:c.G949A:p.G317S,	.	.	.	.	.	.	.	.	.	0	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.001	B	0.001	B	0.567	N	1.000	D	0.345	N	3.46	T	-0.843	T	0.010	T	0.112	0.362	5.966	-3.44	-1.072	-2.081	11.318	0.014	0.045831474818	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200832716	6.307e-06	2.668e-05	6.909e-06	5.651e-06	3.209e-05	2.62e-06	1.69e-06	2.3e-06	1.51e-06	0	0	0	0	0	0	6.407e-06	0	3.209e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.09486	T	0.866	0.03352	T	0.001	0.07471	B	0.001	0.04355	B	0.566583	0.05455	N	1.284550	0.999501	0.47320	D	1.32	0.33002	L	3.46	0.05249	T	0.7	0.02163	N	0.09	0.06854	-0.8432	0.52433	T	0.010	0.03811	T	10	0.051728457	0.05099	T	0.045831	0.62172	D	0.014	0.01968	0.268	0.21576	0.198526703765	0.19489	0.3406459683795566	0.33977	0.107717183507	0.12152	0.541002750397	0.44587	T	0.057827	0.30673	T	-0.361233	0.04061	T	-0.756662	0.03233	T	0.0598973944410682	0.07152	T	0.60384	0.22664	T	0.021705933	0.00788	0.06683596	0.13744	0.021705933	0.00787	0.06683596	0.13744	-2.245	0.04265	T	.	.	0.087	0.11027	B	.	.	0.040985	0.04573	1.253	0.93881319395771323	0.23898	0.00997	0.03780	N	AEFDGBHCI	0.033794	0.04074	N	-1.82187654903896	0.00494	0.02125356	-1.84934569369576	0.00614	0.02727069	0.999999994963353	0.74766	0.766844	0.99359	0	0.748881	0.99253	0	0.851219	0.99655	0	0.372554	0.06265	0	.	.	4.05	-3.44	0.04493	-0.516000	0.06367	-0.689000	0.07849	-1.227000	0.01331	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.1163:0.2764:0.6073:0.0	11.318	0.48642	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	96.99	8	chr8	22565871	.	G	A	96.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.966;DP=309;ExcessHet=0.0000;FS=2.017;InbreedingCoeff=-0.0254;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.10;ReadPosRankSum=0.922;SOR=1.265	GT:AD:DP:GQ:PL	0/1:13,6:19:99:111,0,261	20	0	1	0
chr8	24955934	24955934	T	G	exonic	NEFL	.	nonsynonymous SNV	NEFL:NM_006158:exon1:c.A582C:p.E194D,	Charcot-Marie-Tooth disease, type 1F, Autosomal recessive, Autosomal dominant;Charcot-Marie-Tooth disease, type 2E, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	458365	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease|not_provided|Charcot-Marie-Tooth_disease_type_2E|NEFL-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MedGen:C3661900|MONDO:MONDO:0011894,MedGen:C1843225,OMIM:607684,Orphanet:99939|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0015	0.0001	0	0.0001	0	0	0	0.0103	0.0011707	181	154602	rs532240912	0.0006	0.0006	0.0003	0.0008	0.0089	0.0005	0.0005	0.0084	0.0082	0	0	0	0.0001	0	0.0003	2.699e-06	0.0005	0.0089	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0.0002	0	0	0	0	0.0081	.	.	.	0.566	0.09795	T	0.011	0.15914	B	0.034	0.22546	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.25130	.	.	.	.	.	.	.	0.003864497	0.00073	T	.	.	.	.	.	.	.	0.631214040921	0.62819	0.16812547825081312	0.16732	.	.	0.607451558113	0.53955	T	0.501908	0.82193	D	-0.41169	0.01937	T	-0.357176	0.38378	T	.	.	.	0.851615	0.64352	D	0.09893577	0.23343	0.23498616	0.48731	0.12171747	0.28617	0.2312559	0.48251	-4.21	0.26896	T	0.09088511828008128	0.05707	0.142	0.31228	B	.;.;.	.;.;.	1.546717	0.19829	14.46	0.80751191223715013	0.13351	0.11297	0.16540	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999996969293743	0.74766	0.255962	0.04286	0	0.085267	0.02369	0	0.217501	0.04623	0	0.109499	0.03221	0	0.375623	0.36976	5.79	-3.86	0.03951	-2.411000	0.01117	-2.436000	0.03756	-0.204000	0.08590	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.0967:0.4498:0.0:0.4535	8.361	0.31520	898	0.25240	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2040.98	38	chr8	24955934	.	T	G	2040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.494e+00;DP=969;ExcessHet=0.0000;FS=2.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-1.448e+00;SOR=0.903	GT:AD:DP:GQ:PL	0/1:75,79:154:99:2055,0,2013	20	0	1	0
chr8	25317094	25317094	C	T	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon14:c.C1406T:p.T469M,	.	.	427	1087	7	1	0	9	0.00412277	.	.	700534	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.98	D	0.000	D	1.000	D	2.445	M	2.28	T	-0.982	T	0.101	T	0.711	2.656	14.84	5.49	2.601	4.392	19.474	0.206	0.026776790241	0.0061	0.00179712	0.0055	0.0012	0.0035	0	0.0026	0.0077	0.0088	0.0043	0.0054333	840	154602	rs61732769	0.0079	0.0079	0.0081	0.0076	0.0088	0.0077	0.0077	0.0086	0.0086	0.0013	0.0031	0.0188	2.519e-05	0.0025	0.0047	0.0088	0.0081	0.0046	0.0052	0.0052	0.0058	0.0046	0.0080	0.0049	0.0048	0.0074	0.0072	0.0013	0	0.0052	0.0176	0.0002	0.0025	0	0.0080	0.0052	0.0029	0.032	0.44694	D	0.004	0.74150	D	0.999	0.77913	D	0.98	0.74843	D	0.000004	0.62929	D	0.105597	0.998044	0.44449	D	2.42	0.70002	M	2.28	0.17271	T	-3.06	0.63090	D	0.719	0.72120	-0.9815	0.34655	T	0.101	0.37518	T	10	0.011892885	0.00258	T	0.026777	0.49657	D	0.206	0.49396	.	.	0.32053947749	0.31673	0.4770788980847879	0.47627	0.366053922904	0.38189	0.623646616936	0.56244	T	0.298801	0.67135	T	-0.326612	0.06371	T	-0.236383	0.51152	T	0.00883096115124356	0.00109	T	0.936606	0.76191	D	0.14248607	0.32787	0.17813568	0.40462	0.14248607	0.32787	0.17813568	0.40461	-6.774	0.52365	T	.	.	0.077	0.06433	B	.	.	4.416890	0.68379	25.2	0.99857726923541101	0.93639	0.94854	0.62560	D	AEFGBI	0.555407	0.56586	D	0.632041184979908	0.75210	6.266125	0.55337887573572	0.71634	5.68459	0.999999602202578	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.49	5.49	0.81022	4.401000	0.59475	7.639000	0.63104	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.528000	0.29660	0.0:1.0:0.0:0.0	19.474	0.94971	416	0.81733	DHR-1 domain|DHR-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	0.02381	692.98	39	chr8	25317094	.	C	T	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.130e-01;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.62;ReadPosRankSum=0.673;SOR=0.613	GT:AD:DP:GQ:PL	0/1:56,35:91:99:707,0,1283	20	0	1	0
chr8	25507506	25507506	A	C	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.A2795C:p.K932T	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.009	B	0.009	B	0.552	N	1.000	N	1.355	L	1.43	T	-0.967	T	0.050	T	0.067	1.061	9.334	-6.23	-0.601	-1.052	3.961	0.005	.	.	0.00139776	0.0017	0	0	0	0	0	0	0.0124	0.0013713	212	154602	rs538582951	0.0007	0.0007	0.0003	0.0011	0.0118	0.0007	0.0007	0.0112	0.0110	0	0	0	0	0	0.0003	3.597e-06	0.0006	0.0118	0.0003	0.0004	0.0001	0.0006	0.0110	0.0003	0.0002	0.0086	0.0078	0	0	0	0	0	0	0	0	0	0.0110	0.379	0.11406	T	0.101	0.39340	T	0.009	0.15093	B	0.009	0.14300	B	0.551539	0.05372	N	1.298900	1	0.08975	N	1.175	0.29870	L	1.43	0.32958	T	-0.82	0.22508	N	0.101	0.08366	-0.9665	0.37914	T	0.050	0.21417	T	10	0.0028287768	0.00045	T	.	.	.	0.005	0.00259	0.223	0.14665	0.132336055621	0.12781	0.0600457451731216	0.05944	0.0549117150449	0.06084	0.259965956211	0.04887	T	0.006732	0.06827	T	-0.664854	0.00059	T	-0.717405	0.04922	T	0.0204478454004926	0.00744	T	0.458954	0.13262	T	0.044203535	0.07024	0.017044455	0.00025	0.044203535	0.07023	0.017044455	0.00025	-2.995	0.10127	T	.	.	0.098	0.22573	B	.;.	.;.	-0.350820	0.02404	0.268	0.80477693066682177	0.13221	0.03333	0.08409	N	AEFDGBI	0.033126	0.03870	N	-1.27761947545165	0.03946	0.1772198	-1.38333114491662	0.03429	0.1599418	0.999999929629025	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.723	0.93126	0	.	.	5.42	-6.23	0.01875	-0.943000	0.04026	0.060000	0.14119	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2662:0.4424:0.1968:0.0946	3.961	0.08905	925	0.17918	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1176.98	45	chr8	25507506	.	A	C	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.630e-01;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-1.113e+00;SOR=0.717	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1191,0,1335	20	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.998	D	0.000	D	1.000	D	1.01	L	-1.48	T	-0.003	T	0.531	D	0.963	3.136	16.48	5.11	1.919	9.339	13.703	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	2023.96	49	chr8	28527857	.	A	C	2023.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.128e+00;DP=3491;ExcessHet=6.1002;FS=238.297;InbreedingCoeff=-0.3837;MLEAC=11;MLEAF=0.306;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=3.10;SOR=12.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,43:171:99:.:.:231,0,2895	8	0	10	3
chr8	28768215	28768217	GAT	-	exonic	INTS9	.	nonframeshift deletion	INTS9:NM_001145159:exon16:c.1843_1845del:p.I615del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174060019	8.893e-06	8.893e-06	4.084e-06	1.375e-05	0.0002	4.96e-06	3.82e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	0	0	0.0002	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2661.94	33	chr8	28768214	.	AGAT	A	2661.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.108e+00;DP=849;ExcessHet=0.0000;FS=3.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.36;ReadPosRankSum=0.044;SOR=0.883	GT:AD:DP:GQ:PL	0/1:75,70:145:99:2676,0,2939	20	0	1	0
chr8	36784574	36784574	G	A	exonic	KCNU1	.	stopgain	KCNU1:NM_001031836:exon1:c.G164A:p.W55X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.710	18.84	0.231	0.352	0.528	1.358	.	.	.	.	8.87e-06	0	0	0	0	0	0	6.722e-05	6.5e-06	1	154602	.	6.844e-07	6.84e-07	1.362e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.046	0.01825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15831	0.70044	D	-0.0103746	0.69660	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	5.343109	0.89648	31	0.9786029901293809	0.36458	0.02242	0.06502	N	AEFI	0.029209	0.02714	N	0.178575956277875	0.50170	3.209744	-0.194346788825439	0.31743	1.799349	1.16167923572184E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	0.231	0.14648	0.543000	0.22945	1.715000	0.28221	0.676000	0.76740	0.005000	0.17040	0.207000	0.23614	0.007000	0.07825	0.2315:0.1529:0.4585:0.1572	1.358	0.02055	745	0.52414	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1842.98	33	chr8	36784574	.	G	A	1842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=832;ExcessHet=0.0000;FS=3.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=0.309;SOR=1.031	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1857,0,1295	20	0	1	0
chr8	64581466	64581466	-	GCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.676_677insGCA:p.S234_K235insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/1:32,22,0:54:99:780,0,1161,876,1228,2104	14	1	5	0
chr8	64581464	64581466	GCA	-	exonic	BHLHE22	.	nonframeshift deletion	BHLHE22:NM_152414:exon1:c.674_676del:p.S234del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0196	.	0.0185	0.0275	0.0401	0.0357	0.0021	0.0202	0.0070	0.0168	0.0001537	4	26028	rs779312881	0.0007	0.0059	0.0007	0.0008	0.0023	0.0007	0.0007	0.0020	0.0019	0.0014	0.0011	0.0004	0.0014	0.0013	0.0010	0.0005	0.0008	0.0023	0.0005	0.0006	0.0005	0.0005	0.0011	0.0004	0.0004	0.0007	0.0005	0.0004	0	0.0011	0	0	0.0006	0.0040	0.0004	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/1:32,22,0:54:99:780,0,1161,876,1228,2104	14	1	5	0
chr8	76855922	76855922	G	A	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.G9001A:p.G3001R,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.966	D	0.001	U	0.996	D	0.52	N	0.83	T	-0.747	T	0.193	T	0.547	1.446	10.78	5.17	2.687	7.224	18.852	0.278	0.0219981506845	.	.	2.503e-05	0	8.699e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs772582651	2.053e-05	2.052e-05	9.53e-06	3.163e-05	0.0002	1.456e-05	1.264e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0	9.894e-06	0	0.0002	1.972e-05	3.284e-05	2.569e-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	0.245	0.17940	T	0.027	0.55341	D	.	.	.	.	.	.	0.000545	0.43413	U	0.000000	0.995905	0.42915	D	.	.	.	0.78	0.49358	T	-2.72	0.57920	D	0.853	0.87157	-0.7474	0.58071	T	0.193	0.54535	T	10	0.7151177	0.73295	D	0.021998	0.44841	T	0.278	0.59497	.	.	0.110392049598	0.10638	0.3017617311930979	0.30089	0.737107187288	0.63034	0.697202265263	0.66740	T	.	.	.	-0.268438	0.11932	T	-0.323045	0.42240	T	0.661127150058746	0.38945	D	0.929607	0.81406	D	.	.	.	.	.	.	.	.	-11.8	0.83863	D	.	.	.	.	.	.;.	.;.	4.695074	0.75270	26.3	0.9916781079063175	0.54298	0.95047	0.63245	D	AEFGBCI	0.847136	0.76399	D	0.468687910771039	0.65273	4.801573	0.480634629173318	0.66706	4.987358	0.999999999356593	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	6.312000	0.72804	8.768000	0.78236	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	18.852	0.92204	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1638.98	39	chr8	76855922	.	G	A	1638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.63;DP=1017;ExcessHet=0.0000;FS=1.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=0.627;SOR=0.569	GT:AD:DP:GQ:PL	0/1:90,60:150:99:1653,0,2304	20	0	1	0
chr8	91200659	91200659	C	T	exonic	LRRC69	.	nonsynonymous SNV	LRRC69:NM_001354470:exon3:c.C332T:p.P111L	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.899	P	0.004	U	1.000	N	1.21	L	0.68	T	-0.935	T	0.179	T	0.19	0.935	8.810	2.3	0.173	0.651	3.778	0.048	0.0442043148582	.	0.000798722	0.0006	0	0	0	0	0	0	0.0017	0.00011	17	154602	rs540261033	0.0001	0.0001	5.95e-05	0.0002	0.0022	0.0001	9.573e-05	0.0019	0.0018	0	5.669e-05	0	0	0	0	2.863e-06	0.0001	0.0022	6.575e-05	6.565e-05	2.572e-05	0.0001	0.0021	3.519e-05	2.618e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.062	0.36912	T	0.269	0.32783	T	0.996	0.68779	D	0.899	0.63802	P	0.004269	0.33923	U	0.119868	1	0.08975	N	1.7	0.43825	L	0.68	0.54911	T	-2.65	0.56787	D	0.223	0.25006	-0.9346	0.43455	T	0.179	0.52551	T	10	0.009394288	0.00212	T	0.044204	0.61373	D	0.048	0.13305	.	.	0.395894371353	0.39203	0.06258977853780423	0.06198	.	.	0.277711957693	0.07176	T	0.023301	0.17808	T	-0.500468	0.00568	T	-0.49814	0.22540	T	0.0459561366222464	0.04775	T	0.544146	0.18565	T	0.02920461	0.02378	0.0337863	0.02332	0.02920461	0.02377	0.0337863	0.02332	-3.487	0.16251	T	.	.	0.095	0.15115	B	.;.	.;.	0.497828	0.08667	5.441	0.96902367050981852	0.31542	0.03732	0.09027	N	AEFI	0.075094	0.15070	N	-0.545204348876623	0.20633	1.089196	-0.657582998704498	0.18026	0.9611195	2.41585716777713E-5	0.03498	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.1	2.3	0.27735	0.677000	0.24942	-0.524000	0.08673	-0.224000	0.07868	0.002000	0.15269	0.000000	0.08366	0.011000	0.09372	0.1627:0.5704:0.176:0.0909	3.778	0.08190	771	0.49057	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2645.98	35	chr8	91200659	.	C	T	2645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.598;DP=906;ExcessHet=0.0000;FS=0.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=2.56;SOR=0.733	GT:AD:DP:GQ:PL	0/1:101,108:209:99:2660,0,2368	20	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	1.0	D	0.997	D	0.000	D	1.000	D	1.115	L	1.39	T	-1.032	T	0.165	T	0.358	3.812	19.36	6.02	2.857	7.403	19.525	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	690.63	84	chr8	132010871	.	G	C	690.63	.	AC=7;AF=0.250;AN=28;BaseQRankSum=-3.452e+00;DP=3010;ExcessHet=2.5830;FS=194.769;InbreedingCoeff=-0.3327;MLEAC=9;MLEAF=0.321;MQ=60.00;MQRankSum=0.00;QD=0.65;ReadPosRankSum=1.12;SOR=12.620	GT:AD:DP:GQ:PL	0/1:98,33:131:39:39,0,1637	7	0	7	7
chr8	132886939	132886939	T	C	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon9:c.T1567C:p.S523P,	Thyroid dyshormonogenesis 3, Autosomal recessive	.	0	1505	15	2	0	19	0.0062727	.	.	304281	not_specified|Iodotyrosyl_coupling_defect|not_provided|TG-related_disorder	MedGen:CN169374|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.049	B	0.026	B	0.289	N	1.000	N	1.43	L	-0.4	T	-0.982	T	0.222	T	0.112	-0.527	1.599	2.46	0.350	1.501	6.353	0.079	0.0206104247853	0.0029	0.000998403	0.0018	0.0003	0.0007	0	0.0002	0.0028	0.0022	0.0008	0.0017723	274	154602	rs116062097	0.0019	0.0019	0.0019	0.0019	0.0087	0.0018	0.0018	0.0068	0.0061	0.0006	0.0008	0.0031	0	5.617e-05	0.0087	0.0021	0.0021	0.0008	0.0014	0.0014	0.0015	0.0012	0.0024	0.0012	0.0011	0.0021	0.0020	0.0003	0	0.0005	0.0029	0	0.0002	0.0034	0.0024	0.0019	0.0006	0.247	0.17296	T	0.067	0.44302	T	0.049	0.22227	B	0.026	0.20792	B	0.289047	0.03882	N	1.502520	1	0.08975	N	1.995	0.54099	M	-0.4	0.69287	T	-1.76	0.41618	N	0.153	0.15749	-0.9815	0.34655	T	0.222	0.58562	T	10	0.0060213506	0.00135	T	0.02061	0.43239	T	0.079	0.23065	.	.	0.722373723594	0.71992	0.35451637462755203	0.35365	0.0940562146519	0.10619	0.293794035912	0.09479	T	0.074687	0.34999	T	-0.513533	0.00479	T	-0.513796	0.20926	T	0.00864752536355415	0.00106	T	0.523848	0.17156	T	0.14531259	0.33316	0.14367796	0.34137	0.14531259	0.33315	0.14367796	0.34136	-3.489	0.16278	T	0.2998762853252377	0.39717	0.072	0.04080	B	.	.	0.865464	0.12382	8.918	0.95039178757206766	0.26044	0.27525	0.23302	N	AEFGBI	0.185672	0.31299	N	-0.749600712677565	0.14644	0.7312262	-0.760726148933842	0.15460	0.8131534	0.333198341306732	0.19506	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	2.46	0.29032	1.597000	0.36340	0.142000	0.15184	0.665000	0.62972	0.515000	0.27072	0.000000	0.08366	0.001000	0.02609	0.0:0.085:0.1598:0.7552	6.353	0.20594	850	0.35610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1549.98	38	chr8	132886939	.	T	C	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.792e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.187;SOR=0.657	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1564,0,1609	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,57,0:57:99:2541,172,0,2541,172,2541	0	17	0	0
chr8	143772430	143772430	A	C	exonic	IQANK1	.	nonsynonymous SNV	IQANK1:NM_001381874:exon7:c.A737C:p.K246T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19621214	0.35504	T	.	.	.	.	.	.	.	.	.	0.1279154898055373	0.12716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.913909	0.69352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.44042	B	.	.	2.783371	0.36570	20.3	0.87187207485692642	0.17049	0.89065	0.49311	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999521940810875	0.40175	0.095506	0.02484	0	0.059962	0.00310	0	0.068936	0.01964	0	0.109499	0.03221	0	0.170855	0.28901	3.3	3.3	0.36912	0.920000	0.28325	.	.	0.587000	0.30956	0.263000	0.24978	1.000000	0.68203	0.995000	0.73285	0.8611:0.0:0.1389:0.0	5.039	0.13790	946	0.12043	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	31.1	3	chr8	143772430	.	A	C	31.1	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.00;DP=69;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1742;MLEAC=2;MLEAF=0.091;MQ=60.00;MQRankSum=0.00;QD=7.77;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	10	0	1	10
chr8	144080528	144080528	G	A	exonic	EXOSC4	.	nonsynonymous SNV	EXOSC4:NM_019037:exon3:c.G665A:p.R222Q,	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.238	B	0.006	B	0.001	D	1.000	D	0.895	L	-0.6	T	-1.010	T	0.120	T	0.362	2.311	13.68	3.6	0.664	2.715	7.635	0.100	0.0314054298692	0.0020	0.00119808	0.0017	0.0006	0.0019	0	0.0002	0.0026	0.0033	0.0001	0.001824	282	154602	rs142724505	0.0024	0.0024	0.0024	0.0023	0.0028	0.0023	0.0023	0.0027	0.0026	0.0005	0.0017	0.0034	0	0.0004	0.0026	0.0028	0.0028	0.0001	0.0017	0.0017	0.0018	0.0016	0.0028	0.0015	0.0015	0.0025	0.0023	0.0003	0.0011	0.0012	0.0063	0	0.0006	0.0034	0.0028	0.0033	0.0002	0.31	0.14017	T	0.295	0.20680	T	0.238	0.30817	B	0.006	0.12133	B	0.000618	0.42945	D	0.158497	0.969281	0.38717	D	1.245	0.31408	L	-0.6	0.71662	T	-1.09	0.28497	N	0.173	0.18512	-1.0098	0.26981	T	0.120	0.41821	T	10	0.0076925457	0.00175	T	0.031405	0.53498	D	0.100	0.28662	.	.	0.585747170787	0.58248	0.3679500600596126	0.36709	0.517269899588	0.49598	0.401758491993	0.25314	T	0.037652	0.24552	T	-0.36026	0.04115	T	-0.289311	0.45844	T	0.0112996751851261	0.00167	T	0.717928	0.33234	T	0.06324162	0.13297	0.09545806	0.22639	0.06324162	0.13297	0.09545806	0.22638	-4.868	0.35373	T	.	.	0.092	0.16319	B	.;.	.;.	2.928032	0.38891	20.8	0.98596158361126696	0.43440	0.73412	0.35910	D	AEFGBCI	.	.	.	-0.583064150931244	0.19459	1.018599	-0.469079609292601	0.23011	1.252709	0.999999875093878	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.38	3.6	0.40374	2.666000	0.46464	3.883000	0.40251	-0.712000	0.03928	0.994000	0.38300	1.000000	0.68203	0.775000	0.36711	0.2614:0.0:0.7386:0.0	7.635	0.27427	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1128.98	34	chr8	144080528	.	G	A	1128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=0.250;SOR=0.685	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1143,0,831	20	0	1	0
chr8	144358228	144358228	C	G	exonic	FBXL6	.	nonsynonymous SNV	FBXL6:NM_012162:exon1:c.G220C:p.G74R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.739	P	0.474	P	0.385	U	1.000	N	-0.345	N	1.97	T	-1.067	T	0.028	T	0.196	2.646	14.81	2.86	1.794	1.564	7.726	0.040	0.0226730695118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.892e-06	2.052e-06	1.794e-06	2.001e-06	2.21e-06	3.2e-07	1.2e-07	3.7e-07	1.4e-07	0	0	0	0	0	0	2.21e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.015	0.61642	D	.	.	.	.	.	.	0.384948	0.13337	U	0.589490	1	0.08975	N	.	.	.	1.95	0.22474	T	-0.35	0.12847	N	0.2	0.22098	-1.0672	0.10039	T	0.028	0.12147	T	10	0.13017225	0.24773	T	0.022673	0.45580	T	0.040	0.10527	0.37	0.38013	0.400033932507	0.39614	0.30576973568950594	0.30489	1.40364346394	0.85259	0.835518479347	0.87409	D	.	.	.	-0.224095	0.17437	T	-0.559674	0.16408	T	0.182114447850982	0.19368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.31956	B	.;.	.;.	1.192663	0.15842	12.14	0.91315444827724968	0.20577	0.07255	0.13279	N	ALL	0.084755	0.17179	N	-0.574999681579084	0.19706	1.033461	-0.63776653053104	0.18526	0.9900571	0.999999999984011	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.56214	0.19341	0	.	.	3.77	2.86	0.32427	1.009000	0.29487	0.343000	0.17400	0.574000	0.29054	0.003000	0.16062	0.000000	0.08366	0.005000	0.06747	0.0:0.8687:0.0:0.1313	7.726	0.27928	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	187.98	34	chr8	144358228	.	C	G	187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=679;ExcessHet=0.0000;FS=2.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.540e-01;SOR=0.180	GT:AD:DP:GQ:PL	0/1:9,7:16:99:202,0,322	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,14,13:27:99:.:.:1036,526,477,515,0,549	3	5	9	0
chr9	13168390	13168390	T	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.A3230G:p.H1077R	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.001	D	1.000	D	1.745	L	1.15	T	-0.932	T	0.172	T	0.795	3.626	18.45	4.19	0.934	7.655	12.511	0.354	0.027143734527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.54683	D	0.122	0.38305	T	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.99952	0.47407	D	1.92	0.51302	L	1.15	0.38236	T	-3.94	0.73378	D	0.727	0.77978	-0.9318	0.43874	T	0.172	0.51484	T	10	0.73585963	0.74615	D	0.027144	0.49992	D	0.354	0.67510	0.704	0.84054	0.463068873536	0.45932	0.7174230411935983	0.71685	.	.	0.808946490288	0.83330	D	0.090101	0.38513	T	0.119062	0.66279	D	-0.0667528	0.65858	T	0.984072506427765	0.75510	D	0.89491	0.65919	D	0.3044438	0.53300	0.3014344	0.56175	0.3044438	0.53300	0.3014344	0.56174	-11.379	0.82043	D	.	.	0.853	0.86433	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.947322	0.57808	23.9	0.99577508414446592	0.72802	0.97696	0.76478	D	AEFBI	0.939189	0.93944	D	0.563804521385392	0.70926	5.573924	0.539877344724308	0.70694	5.543289	0.997216321833269	0.35382	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.19	0.48645	7.605000	0.82070	7.912000	0.74078	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1397:0.8603	12.511	0.55349	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	144.56	50	chr9	13168390	.	T	C	144.56	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.530e+00;DP=1567;ExcessHet=1.1607;FS=150.054;InbreedingCoeff=-0.1367;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=0.337;SOR=10.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,20:118:17:0|1:13168390_T_C:17,0,3295:13168390	16	0	5	0
chr9	13168391	13168391	G	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.C3229G:p.H1077D	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.001	D	1.000	D	2.095	M	1.13	T	-0.663	T	0.264	T	0.899	4.537	24.5	5.36	2.656	9.420	19.459	0.509	0.0485137705426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.53172	D	0.027	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.999987	0.54805	D	2.47	0.71715	M	1.13	0.38556	T	-4.12	0.75220	D	0.892	0.93252	-0.6632	0.62135	T	0.264	0.63523	T	10	0.79950947	0.79374	D	0.048514	0.63407	D	0.509	0.78910	0.676	0.81398	0.530948259028	0.52743	0.7832599608026783	0.78276	.	.	0.803409934044	0.82484	D	0.183282	0.53557	T	0.262473	0.79757	D	0.139248	0.79496	D	0.994370400905609	0.85626	D	0.883312	0.62654	D	0.35159937	0.57191	0.477112	0.69706	0.35159937	0.57191	0.477112	0.69707	-15.211	0.96822	D	.	.	0.932	0.89634	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.419285	0.68430	25.2	0.99404669178338745	0.62981	0.99314	0.94366	D	AEFBI	0.940665	0.94292	D	0.86785734346884	0.90100	10.25299	0.852903496062704	0.93184	11.878	0.999999999878541	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.512000	0.97013	11.867000	0.98473	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.459	0.94902	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	122.88	50	chr9	13168391	.	G	C	122.88	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-4.238e+00;DP=1541;ExcessHet=1.1607;FS=163.893;InbreedingCoeff=-0.1408;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=0.453;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,20:118:17:0|1:13168390_T_C:17,0,3295:13168390	16	0	5	0
chr9	20414343	20414345	CTA	-	exonic	MLLT3	.	nonframeshift deletion	MLLT3:NM_001286691:exon5:c.492_494del:p.S187del	.	.	22	1498	2	0	0	2	0.000667111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1038	.	0.0001	0	0	0.0001	0	0.0001	0	0.0003	6.5e-06	1	154602	rs767180736	0.0012	0.0026	0.0011	0.0013	0.0042	0.0012	0.0012	0.0037	0.0035	0.0023	0.0017	0.0051	0.0042	0.0021	0.0018	0.0009	0.0019	0.0014	0.0042	0.0042	0.0044	0.0040	0.0065	0.0039	0.0038	0.0059	0.0056	0.0065	0	0.0038	0.0081	0.0041	0.0011	0.0071	0.0032	0.0048	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	853.94	34	chr9	20414342	.	GCTA	G	853.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=740;ExcessHet=0.0000;FS=1.373;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.98;ReadPosRankSum=1.66;SOR=0.450	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,24:45:99:0|1:20414342_GCTA_G:868,0,705:20414342	20	0	1	0
chr9	20414376	20414378	CTA	-	exonic	MLLT3	.	nonframeshift deletion	MLLT3:NM_001286691:exon5:c.459_461del:p.S187del	.	.	9	1503	6	0	4	10	0.00199203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1154	.	2.821e-05	0	0	0	0	5.226e-05	0	0	6.5e-06	1	154602	rs746029051	0.0021	0.0072	0.0019	0.0022	0.0021	0.0020	0.0020	0.0019	0.0019	0.0017	0.0010	0.0032	0.0007	0.0069	0.0021	0.0020	0.0025	0.0008	0.0055	0.0056	0.0052	0.0058	0.0076	0.0052	0.0051	0.0070	0.0068	0.0037	0	0.0019	0.0064	0.0006	0.0092	0	0.0076	0.0048	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	188.04	34	chr9	20414375	.	GCTA	G	188.04	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.18;ReadPosRankSum=1.47;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,7:25:99:1|0:20414342_GCTA_G:776,0,507:20414342	20	0	1	0
chr9	20414378	20414378	A	0	exonic	MLLT3	.	.	.	.	.	1	184	35	2	4	43	0.0958231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3362.48	34	chr9	20414378	.	A	G,*	3362.48	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=1.71;DP=856;ExcessHet=1.7912;FS=5.302;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.563;SOR=0.449	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:16,0,7:25:99:1|0:20414342_GCTA_G:776,552,1069,0,573,507:20414342	15	0	5	0
chr9	21141288	21141288	G	T	exonic	IFNW1	.	nonsynonymous SNV	IFNW1:NM_002177:exon1:c.C283A:p.R95S,	.	.	425	1082	15	0	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.986	D	0.781	P	0.103	N	1.000	N	1.725	L	4.04	T	-0.971	T	0.002	T	0.222	1.968	12.54	-7.59	-1.364	-0.809	4.789	0.068	.	0.0008	0.0269569	0.0132	0.0012	0.0013	0.0694	0.0213	0.0015	0.0132	0.0435	0.0118757	1836	154602	rs2230055	0.0065	0.0065	0.0056	0.0075	0.0931	0.0064	0.0064	0.0906	0.0895	0.0004	0.0004	0.0004	0.0931	0.0221	0.0021	0.0006	0.0090	0.0393	0.0069	0.0069	0.0047	0.0093	0.0757	0.0066	0.0064	0.0695	0.0671	0.0006	0	0.0003	0.0003	0.0757	0.0292	0	0.0010	0.0076	0.0491	0.448	0.09048	T	0.657	0.06576	T	0.986	0.61523	D	0.781	0.57337	P	0.102690	0.02563	N	1.767260	1	0.08975	N	1.64	0.41913	L	4.04	0.03121	T	-0.5	0.15782	N	0.035	0.01004	-0.9711	0.36967	T	0.002	0.00738	T	10	0.001878649	0.00025	T	.	.	.	0.068	0.19811	.	.	.	.	0.05729109760735713	0.05670	0.0124948759642	0.01191	0.188712120056	0.00203	T	0.041501	0.25880	T	-0.68714	0.00043	T	-0.663089	0.08059	T	0.0444528213691395	0.04503	T	0.581942	0.21082	T	0.2622657	0.49287	0.07943324	0.17880	0.2622657	0.49287	0.07943324	0.17880	-1.864	0.02707	T	.	.	0.177	0.38729	B	.	.	0.154863	0.05464	1.933	0.8364494494498973	0.14840	0.05040	0.10826	N	AEFGBCI	0.083488	0.16914	N	-0.688584445872386	0.16345	0.8319682	-0.96942618026261	0.10476	0.527858	0.999996929550714	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.54	-7.59	0.01167	-0.532000	0.06252	.	.	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.281000	0.24041	0.0725:0.3541:0.3208:0.2525	4.789	0.12609	872	0.31118	.	.	.	.	.	rs2230055	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	890.98	36	chr9	21141288	.	G	T	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=745;ExcessHet=0.0000;FS=4.294;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-1.830e-01;SOR=1.156	GT:AD:DP:GQ:PL	0/1:51,33:84:99:905,0,1332	20	0	1	0
chr9	21217079	21217079	G	A	exonic	IFNA16	.	nonsynonymous SNV	IFNA16:NM_002173:exon1:c.C227T:p.A76V,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.953	P	0.569	P	0.532	N	1.000	N	2.84	M	3.31	T	-1.071	T	0.041	T	0.318	2.974	15.92	2.62	1.471	1.138	10.511	0.084	.	.	0.00159744	0.0018	0	0.0002	0	0	0	0	0.0128	0.0014942	231	154602	rs569687693	0.0007	0.0007	0.0004	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	2.988e-05	0	0	2.519e-05	0	0.0005	1.529e-05	0.0007	0.0119	0.0004	0.0004	0.0002	0.0006	0.0118	0.0003	0.0003	0.0094	0.0085	0	0	0	0	0	0	0	1.47e-05	0	0.0118	0.022	0.48642	D	0.082	0.41573	T	0.953	0.54283	P	0.569	0.49832	P	0.532085	0.11627	N	0.791679	1	0.08975	N	2.935	0.84639	M	3.31	0.06291	T	-2.95	0.61580	D	0.236	0.26596	-1.0705	0.09304	T	0.041	0.17742	T	10	0.00677979	0.00154	T	.	.	.	0.084	0.24469	.	.	0.201204373187	0.19734	0.10360560660676946	0.10290	.	.	0.416752040386	0.27391	T	0.029807	0.21272	T	-0.528985	0.00389	T	-0.521595	0.20134	T	0.162441117452068	0.18050	T	0.806819	0.45619	T	0.12696645	0.29723	0.15360607	0.36087	0.12696645	0.29723	0.15360607	0.36087	-8.065	0.61513	D	.	.	0.121	0.24967	B	.	.	0.999849	0.13782	10.33	0.99746649020406786	0.83927	0.05213	0.11040	N	AEFBI	0.028207	0.02443	N	-0.215868861421465	0.32481	1.83234	-0.46631537556184	0.23087	1.257296	0.0154999525519743	0.12720	0.59774	0.34471	0	0.596491	0.49125	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.62	2.62	0.30337	0.662000	0.24721	.	.	-0.206000	0.08541	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	10.511	0.44051	835	0.38313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3883.98	33	chr9	21217079	.	G	A	3883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.252e+00;DP=1737;ExcessHet=0.0000;FS=2.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-8.140e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/1:152,145:297:99:3898,0,4096	20	0	1	0
chr9	21239454	21239454	G	A	exonic	IFNA14	.	nonsynonymous SNV	IFNA14:NM_002172:exon1:c.C482T:p.P161L,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.008	B	0.065	B	0.054	N	1.000	N	1.595	L	3.96	T	-0.974	T	0.012	T	0.22	2.543	14.46	-3.84	-0.451	-1.464	12.683	0.052	.	.	0.00159744	0.0017	0	0.0002	0	0	0	0	0.0126	0.0014748	228	154602	rs576347453	0.0007	0.0007	0.0004	0.0011	0.0116	0.0007	0.0007	0.0110	0.0108	2.987e-05	0	0	0	0	0.0005	1.619e-05	0.0007	0.0116	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0096	0.0087	2.407e-05	0	0	0	0	0	0	1.47e-05	0	0.0120	0.022	0.48642	D	0.638	0.07015	T	0.008	0.14655	B	0.065	0.27321	B	0.053996	0.22762	N	0.467939	1	0.08975	N	2.065	0.56745	M	3.96	0.03354	T	-6.89	0.93257	D	0.2	0.22098	-0.9740	0.36344	T	0.012	0.04795	T	10	0.009017497	0.00204	T	.	.	.	0.052	0.14661	.	.	0.0611884634855	0.05136	0.06076101270314582	0.06016	.	.	0.269909054041	0.06129	T	0.155739	0.49761	T	-0.615186	0.00118	T	-0.645417	0.09278	T	0.104814676409317	0.12877	T	0.285071	0.05059	T	0.19566165	0.41364	0.18889341	0.42205	0.19566165	0.41364	0.18889341	0.42204	-5.485	0.41728	T	.	.	0.108	0.20352	B	.	.	1.277136	0.16768	12.75	0.89613297214375187	0.18948	0.01069	0.03960	N	AEFBI	0.022621	0.01155	N	-0.96585069367272	0.09341	0.4416506	-1.06919061439428	0.08312	0.4081326	0.413519647978372	0.20232	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.38	-3.84	0.03976	-3.251000	0.00597	.	.	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.984000	0.60418	0.0:0.0:0.2094:0.7906	12.683	0.56296	835	0.38313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4545.98	33	chr9	21239454	.	G	A	4545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=1097;ExcessHet=0.0000;FS=1.769;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.97;MQRankSum=0.917;QD=11.34;ReadPosRankSum=-5.890e-01;SOR=0.862	GT:AD:DP:GQ:PL	0/1:219,182:401:99:4560,0,5585	20	0	1	0
chr9	32633296	32633296	G	C	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.C2284G:p.L762V,	.	.	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.002	B	0.012	B	0.000	D	0.999	N	0.82	L	1.82	T	-1.033	T	0.030	T	0.228	-1.134	0.114	-1.24	-0.276	3.931	4.297	0.112	0.000557498475781	.	0.000199681	0.0003	9.61e-05	0.0002	0	0	1.498e-05	0	0.0022	0.0002911	45	154602	rs200792587	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	2.987e-05	0.0001	0	2.519e-05	0	0.0005	0.0001	0.0003	0.0021	0.0001	0.0001	8.994e-05	0.0002	0.0021	9.737e-05	8.252e-05	0.0011	0.0009	0	0	0	0	0	0	0	0.0002	0	0.0021	0.566	0.06262	T	0.647	0.06812	T	0.002	0.09854	B	0.012	0.16012	B	0.000012	0.62929	D	0.175861	0.99941	0.21230	N	1.49	0.37298	L	1.82	0.25018	T	0.15	0.05310	N	0.217	0.24260	-1.0331	0.19459	T	0.030	0.12935	T	10	0.009084821	0.00205	T	5.57E-4	0.00221	T	0.112	0.31546	.	.	0.0920862733494	0.08535	0.3737671378113965	0.37290	0.178430521707	0.20078	0.533524751663	0.43531	T	0.034	0.23185	T	-0.532273	0.00372	T	-0.543825	0.17922	T	0.0209057003625889	0.00791	T	0.89741	0.64114	D	0.041902855	0.06258	0.03776325	0.03500	0.041902855	0.06257	0.03776325	0.03500	-6.731	0.52043	T	.	.	0.117	0.23814	B	.	.	1.893318	0.24047	16.25	0.44180022918915607	0.03378	0.59740	0.30999	D	AEFBIJ	0.294008	0.40449	N	-1.02412776540333	0.08104	0.3788758	-1.0046755072446	0.09683	0.4831151	0.172835780433106	0.17761	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	1.19	-1.24	0.08948	4.178000	0.58079	8.868000	0.78328	-1.050000	0.01643	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.7708:0.0:0.2292:0.0	4.297	0.10350	835	0.38313	Transcription initiation factor TFIID subunit 1, domain of unknown function	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3228.98	34	chr9	32633296	.	G	C	3228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=1276;ExcessHet=0.0000;FS=1.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-1.200e+00;SOR=0.698	GT:AD:DP:GQ:PL	0/1:112,120:232:99:3243,0,2943	20	0	1	0
chr9	34662371	34662371	C	T	exonic	CCL27	.	nonsynonymous SNV	CCL27:NM_006664:exon2:c.G116A:p.R39Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.31	B	0.082	B	0.005	N	0.912	N	1.935	M	1.53	T	-1.028	T	0.070	T	0.233	2.843	15.47	3.54	0.760	0.457	8.759	0.015	0.017444390458	.	.	5.773e-05	9.617e-05	8.657e-05	0	0	0	0.0022	0.0002	4.53e-05	7	154602	rs777698595	3.215e-05	3.215e-05	1.361e-05	5.088e-05	0.0004	2.478e-05	2.22e-05	0.0003	0.0003	0	4.472e-05	0	0	1.873e-05	0.0002	6.295e-06	1.656e-05	0.0004	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.83e-05	2.18e-06	8.2e-07	8.01e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	0	0	0	0.029	0.45756	D	0.0	0.92824	D	0.31	0.32798	B	0.082	0.29098	B	0.005133	0.33071	N	0.136906	0.911737	0.27492	N	1.245	0.31408	L	1.53	0.30401	T	-1.42	0.34992	N	0.232	0.26111	-1.0276	0.21233	T	0.070	0.28577	T	10	0.10267502	0.18833	T	0.017444	0.39139	T	0.015	0.02232	.	.	0.452450644169	0.44866	0.24395172723612887	0.24309	0.108079722207	0.12183	0.298809081316	0.10224	T	0.050358	0.28572	T	-0.425115	0.01587	T	-0.548101	0.17507	T	0.0377103737833996	0.03281	T	0.732227	0.34774	T	0.11883828	0.27992	0.10235029	0.24528	0.11883828	0.27992	0.10235029	0.24527	-3.199	0.12468	T	.	.	0.079	0.07083	B	.	.	2.481593	0.32005	18.91	0.99439024640303675	0.64670	0.56666	0.30176	D	AEFBI	0.188146	0.31543	N	-0.270432508829438	0.30295	1.687882	-0.183186927153491	0.32154	1.826511	0.99995591773755	0.48110	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.37	3.54	0.39650	0.609000	0.23935	0.627000	0.20189	-0.189000	0.09497	0.685000	0.28485	0.960000	0.29291	0.897000	0.43391	0.0:0.8238:0.0:0.1762	8.759	0.33824	342	0.85871	Chemokine interleukin-8-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1582.98	40	chr9	34662371	.	C	T	1582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.371;SOR=0.723	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1597,0,1318	20	0	1	0
chr9	35353075	35353075	C	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371187:exon2:c.C1549T:p.L517F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.26e-07	6.84e-07	0	1.962e-06	1.087e-06	0	0	.	.	0	0	0	0	0	0	1.087e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16703239	0.31174	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364964	0.08484	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02145	B	.	.	1.730464	0.22026	15.45	0.75662276150812302	0.11162	0.01003	0.03794	N	AEFBI	.	.	.	.	.	.	.	.	.	0.731608653119059	0.23054	0.099367	0.02607	0	0.066906	0.01782	0	0.063197	0.01477	0	0.117559	0.03655	0	0.133481	0.26119	5.47	0.061	0.13654	1.061000	0.30152	0.665000	0.20538	-0.780000	0.03343	0.169000	0.23921	0.981000	0.30433	0.808000	0.38083	0.0:0.3747:0.169:0.4563	6.612	0.21952	129	0.94817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	38.87	62	chr9	35353075	.	C	T	38.87	.	AC=2;AF=0.111;AN=18;DP=62;ExcessHet=0.0000;FS=0.000;MLEAC=2;MLEAF=0.111;MQ=60.00;QD=19.43;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	8	1	0	12
chr9	35906589	35906589	-	CCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCA:p.H105_P106insHHH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:15,0,0,0,3,0:18:48:.:.:48,105,734,105,734,734,105,734,734,734,0,629,629,629,620,105,734,734,734,629,734	13	1	1	0
chr9	35906589	35906589	-	CCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCA:p.H105_P106insHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:15,0,0,0,3,0:18:48:.:.:48,105,734,105,734,734,105,734,734,734,0,629,629,629,620,105,734,734,734,629,734	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA:p.H107_R108insHHPHHTPHHLHHHHHHPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:15,0,0,0,3,0:18:48:.:.:48,105,734,105,734,734,105,734,734,734,0,629,629,629,620,105,734,734,734,629,734	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCA:p.H105_P106insHHHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:15,0,0,0,3,0:18:48:.:.:48,105,734,105,734,734,105,734,734,734,0,629,629,629,620,105,734,734,734,629,734	13	1	1	0
chr9	38396506	38396506	T	C	exonic	ALDH1B1	.	nonsynonymous SNV	ALDH1B1:NM_000692:exon2:c.T758C:p.V253A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.001	B	0.000	D	1.000	N	-1.355	N	2.5	T	-0.943	T	0.009	T	0.152	-1.246	0.053	3.13	0.373	2.106	5.818	0.095	0.00469874300915	.	.	8.314e-06	0	8.666e-05	0	0	0	0	0	6.5e-06	1	154602	rs764552270	1.368e-06	1.368e-06	2.723e-06	0	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	2.236e-05	0	0	0	0	0	0	0	6.572e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.852	0.02725	T	0.961	0.02542	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.08975	N	.	.	.	2.5	0.14408	T	-0.74	0.20791	N	0.238	0.26837	-0.9434	0.42073	T	0.009	0.03096	T	10	0.087919444	0.15088	T	0.004699	0.11691	T	0.095	0.27398	0.478	0.55663	0.148003135375	0.14442	0.1719588522591919	0.17115	0.115497255454	0.13025	0.430989146233	0.29343	T	.	.	.	-0.418884	0.01739	T	-0.663628	0.08024	T	0.0172571482473313	0.00467	T	0.774123	0.40598	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07745	B	.	.	1.861376	0.23646	16.10	0.43773894224388887	0.03319	0.80068	0.39807	D	AEFBCI	0.213830	0.33936	N	-0.814883018110207	0.12930	0.6335252	-0.606513775271408	0.19325	1.036338	0.999926099542748	0.46280	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	3.13	0.35090	2.285000	0.43149	0.149000	0.15269	0.665000	0.62972	1.000000	0.71638	0.666000	0.26041	0.140000	0.19946	0.1486:0.0819:0.0:0.7695	5.818	0.17768	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1809.98	38	chr9	38396506	.	T	C	1809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.132;DP=1004;ExcessHet=0.0000;FS=0.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=0.954;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,69:132:99:0|1:38396505_G_A:1824,0,1549:38396505	20	0	1	0
chr9	41127944	41127944	C	A	exonic	FOXD4L6	.	nonsynonymous SNV	FOXD4L6:NM_001085476:exon1:c.G440T:p.R147L,	.	.	918	595	5	4	0	13	0.0108063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.984	D	0.908	P	0.002	U	0.902	D	0.345	N	-3.7	D	0.528	D	0.767	D	0.347	3.422	17.57	2.2	1.220	2.231	4.869	0.594	0.0482814857573	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1246870379	0.0035	0.0033	0.0029	0.0042	0.0164	0.0034	0.0034	0.0154	0.0151	0.0003	0.0017	0.0040	3.266e-05	0.0019	0.0118	0.0026	0.0037	0.0164	0.0021	0.0022	0.0015	0.0028	0.0116	0.0016	0.0015	0.0040	0.0024	0.0007	0	0.0018	0.0044	0	0.0032	0	0.0023	0	0.0116	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.35938	.	.	.	.	.	.	.	0.45334756	0.58837	T	.	.	.	.	.	.	.	.	.	0.09492818859971522	0.09424	.	.	.	.	.	0.648786	0.89317	D	.	.	.	.	.	.	.	.	.	0.948605	0.80233	D	.	.	.	.	.	.	.	.	-5.084	0.37738	T	.	.	0.434	0.61403	A	.	.	4.560097	0.71854	25.7	.	.	.	.	.	.	0.549307	0.56224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.736000	0.37811	2.496000	0.33006	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	.	.	.	994	0.00715	Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	165.31	11	chr9	41127944	.	C	A	165.31	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.19;DP=101;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.0455;MLEAC=2;MLEAF=0.053;MQ=24.43;MQRankSum=1.28;QD=13.78;ReadPosRankSum=-5.240e-01;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,4:5:13:.:.:101,0,13	17	0	2	2
chr9	73165203	73165203	C	T	exonic	ANXA1	.	nonsynonymous SNV	ANXA1:NM_000700:exon9:c.C700T:p.R234C,	.	.	.	.	.	.	.	.	.	.	.	3278789	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.179	B	0.049	B	0.000	D	1.000	D	2.89	M	3.78	T	-1.148	T	0.033	T	0.784	3.267	16.96	6.17	2.941	3.747	19.868	0.301	0.0289736476121	7.7e-05	.	2.517e-05	9.711e-05	0	0	0	3.056e-05	0	0	1.94e-05	3	154602	rs138602190	6.851e-06	8.209e-06	6.817e-06	6.886e-06	5.992e-05	3.47e-06	2.53e-06	9.92e-06	3.71e-06	5.992e-05	4.487e-05	0	0	0	0	4.503e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.119	0.36101	T	0.179	0.28995	B	0.049	0.25116	B	0.000000	0.84330	D	0.048809	1	0.81001	D	3	0.85872	M	3.78	0.03836	T	-4.79	0.80595	D	0.75	0.74918	-1.1480	0.01086	T	0.033	0.14334	T	10	0.6742289	0.70894	D	0.028974	0.51567	D	0.301	0.62179	.	.	0.578877614382	0.57557	0.6942595277587286	0.69366	0.0900235829722	0.10153	0.507938444614	0.39933	T	0.409122	0.76425	T	-0.0605608	0.42820	T	-0.142621	0.59892	T	0.685461163520813	0.40038	D	0.887511	0.61533	D	0.48042077	0.65926	0.38951135	0.63769	0.48042077	0.65927	0.38951135	0.63769	-7.096	0.54732	T	.	.	0.216	0.44745	B	.;.	.;.	4.051815	0.60059	24.2	0.99693340343981518	0.80112	0.98258	0.81007	D	AEFGBHCI	0.861557	0.77965	D	0.354351334918449	0.58969	4.072707	0.477890156810486	0.66527	4.963772	0.999999999517461	0.74766	0.67177	0.52595	0	0.670034	0.63936	0	0.653264	0.51672	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	3.665000	0.54270	4.843000	0.45303	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.868	0.96822	660	0.61921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2387.98	34	chr9	73165203	.	C	T	2387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=867;ExcessHet=0.0000;FS=3.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-9.470e-01;QD=12.84;ReadPosRankSum=0.963;SOR=0.476	GT:AD:DP:GQ:PL	0/1:89,97:186:99:2402,0,1971	20	0	1	0
chr9	76338366	76338366	C	T	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon34:c.C4804T:p.R1602C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	0.036	N	1.000	N	0.965	L	0.11	T	-0.852	T	0.171	T	0.465	0.825	8.325	5.83	2.763	0.600	9.742	0.222	0.0419291545586	.	.	1.764e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs759656241	4.109e-06	4.104e-06	1.363e-06	6.883e-06	3.479e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	2.699e-06	0	3.479e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.939e-05	0	0.0002	0.096	0.37750	T	0.062	0.45530	T	.	.	.	.	.	.	0.036340	0.24535	N	0.452593	1	0.08975	N	2.265	0.64440	M	0.11	0.61208	T	-2.27	0.52938	N	0.507	0.53884	-0.8521	0.51823	T	0.171	0.51261	T	8	0.18251243	0.33534	T	0.041929	0.60190	D	0.222	0.51872	0.517	0.61763	0.459995458672	0.45626	0.5285158325445515	0.52775	0.214031236135	0.23940	0.313098400831	0.12376	T	0.096496	0.39836	T	-0.187374	0.22644	T	-0.324779	0.42047	T	0.249160177608324	0.22835	T	0.828317	0.49240	T	0.09030722	0.21128	0.056013916	0.09932	0.09030722	0.21127	0.056013916	0.09931	-7.97	0.60865	D	.	.	0.261	0.52833	B	.;.	.;.	2.126406	0.27073	17.34	0.97980622811077311	0.37327	0.07014	0.13040	N	AEFI	0.141466	0.26364	N	-0.225004519924847	0.32111	1.807443	-0.263966932320623	0.29295	1.640089	0.705712815880478	0.22756	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.83	5.83	0.93059	0.673000	0.24883	2.640000	0.33748	0.596000	0.33519	0.005000	0.17040	0.032000	0.21310	0.003000	0.05239	0.2432:0.6277:0.1291:0.0	9.742	0.39589	956	0.09877	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1577.98	40	chr9	76338366	.	C	T	1577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.430e-01;DP=835;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-7.030e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:66,70:136:99:1592,0,1504	20	0	1	0
chr9	77344204	77344204	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon50:c.G6961A:p.E2321K	Choreoacanthocytosis, Autosomal recessive	YES	7	1499	15	1	0	17	0.00563847	.	.	313408	VPS13A-related_disorder|Chorea-acanthocytosis|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.88	T	1.0	D	0.985	D	0.000	D	1.000	D	1.445	L	1.53	T	-1.052	T	0.140	T	0.8	1.962	12.52	5.96	2.830	6.960	19.382	0.206	0.0254008848318	7.7e-05	.	0.0006	0	8.639e-05	0	0	0.0002	0.0011	0.0034	0.0004463	69	154602	rs370401336	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0032	0	0	3.831e-05	5.055e-05	0	0.0016	4.411e-05	0.0003	0.0037	0.0001	0.0001	5.144e-05	0.0002	0.0027	8.175e-05	6.73e-05	0.0016	0.0013	0	0	0	0	0	0	0	7.353e-05	0.0005	0.0027	0.109	0.29288	T	0.15	0.40110	T	0.999	0.90584	D	0.939	0.76457	D	0.000001	0.84330	D	0.055231	1	0.81001	D	2.25	0.63811	M	1.53	0.30401	T	-1.13	0.29114	N	0.809	0.82358	-1.0517	0.13926	T	0.140	0.45847	T	10	0.008782804	0.00199	T	0.025401	0.48370	D	0.206	0.49396	.	.	0.651195803754	0.64829	0.6882308993755194	0.68763	0.629044018117	0.56961	0.561564683914	0.47489	T	0.11496	0.43318	T	-0.228054	0.16906	T	-0.103097	0.63156	T	0.127359509468079	0.15136	T	0.906209	0.66975	D	0.18048228	0.39171	0.22905059	0.47965	0.18048228	0.39170	0.22905059	0.47964	-6.019	0.58192	T	.	.	0.086	0.10594	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.195196	0.87139	29.1	0.92037929451987821	0.21379	0.98675	0.85440	D	AEFBI	0.743335	0.68667	D	0.415732734553668	0.62287	4.442098	0.476276528578892	0.66420	4.949937	0.999999997492236	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	7.036000	0.76250	9.879000	0.82185	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.382	0.94532	563	0.71062	.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain;.;.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	1505.11	34	chr9	77344204	.	G	A	1505.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.732;DP=793;ExcessHet=0.1072;FS=0.615;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=1.44;SOR=0.628	GT:AD:DP:GQ:PL	0/1:31,37:68:99:790,0,758	19	0	2	0
chr9	77647697	77647697	G	A	exonic	GNA14	.	nonsynonymous SNV	GNA14:NM_004297:exon1:c.C97T:p.R33C,	.	.	416	1036	67	3	0	73	0.0340326	.	.	723630	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.954	D	0.000	D	1.000	D	2.905	M	-2.47	D	0.856	D	0.840	D	0.782	5.557	35	5.39	2.516	4.175	18.722	0.738	.	0.0019	0.00379393	0.0066	0.0009	0.0049	0	0	0.0043	0.0052	0.0242	0.0044695	691	154602	rs138686336	0.0033	0.0033	0.0026	0.0040	0.0364	0.0032	0.0032	0.0324	0.0308	0.0010	0.0040	0.0257	0	7.59e-05	0.0364	0.0014	0.0060	0.0210	0.0028	0.0028	0.0025	0.0030	0.0180	0.0026	0.0025	0.0150	0.0138	0.0004	0	0.0048	0.0242	0	9.407e-05	0.0442	0.0019	0.0090	0.0180	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.954	0.69447	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.635	0.94052	H	-2.47	0.88997	D	-4.76	0.80340	D	0.539	0.56662	0.856	0.95101	D	0.840	0.94656	D	10	0.009296596	0.00210	T	.	.	.	0.738	0.90895	.	.	0.911366689434	0.91047	0.7654683213464282	0.76495	0.247364135573	0.27283	0.744459748268	0.73629	T	0.773193	0.93946	D	-0.0334965	0.46907	T	0.196028	0.82911	D	0.136027127504349	0.15929	T	0.889111	0.62070	D	0.573799	0.71269	0.48309243	0.70072	0.573799	0.71270	0.48309243	0.70073	-11.881	0.84266	D	0.6395720819962271	0.71007	0.734	0.74359	P	.	.	5.366148	0.89973	31	0.99931552829862558	0.99387	0.89540	0.50069	D	AEFDBHCIJ	0.842029	0.75917	D	0.785945920123496	0.85217	8.511172	0.736347521597922	0.85135	8.490814	1.0	0.98316	0.789315	0.99827	0	0.563428	0.19063	0	0.768056	0.98339	0	0.71	0.69187	0	.	.	5.39	5.39	0.77615	3.554000	0.53466	9.800000	0.81690	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.722	0.91661	807	0.43470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	38	chr9	77647697	.	G	A	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.670e-01;DP=774;ExcessHet=0.0000;FS=0.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.083;SOR=0.914	GT:AD:DP:GQ:PL	0/1:32,38:70:99:885,0,748	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:231,147:394:99:888,0,3713	0	0	21	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:0,34,37,0,0,0:71:99:2671,1430,1449,1354,0,1311,2737,1498,1391,2823,2737,1498,1391,2823,2823,2737,1498,1391,2823,2823,2823	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:0,34,37,0,0,0:71:99:2671,1430,1449,1354,0,1311,2737,1498,1391,2823,2737,1498,1391,2823,2823,2737,1498,1391,2823,2823,2823	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:0,34,37,0,0,0:71:99:2671,1430,1449,1354,0,1311,2737,1498,1391,2823,2737,1498,1391,2823,2823,2737,1498,1391,2823,2823,2823	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:0,34,37,0,0,0:71:99:2671,1430,1449,1354,0,1311,2737,1498,1391,2823,2737,1498,1391,2823,2823,2737,1498,1391,2823,2823,2823	1	2	3	0
chr9	93308387	93308387	G	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_006648:exon27:c.G6319A:p.V2107I	.	.	422	1057	40	3	0	46	0.0212963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.882	P	0.238	B	0.002	N	1.000	D	1.04	L	0.09	T	-0.912	T	0.142	T	0.115	3.299	17.08	3.58	0.641	3.424	11.070	0.038	.	0.0052	0.00459265	0.0139	0.0154	0.0126	0	0.0018	0.0083	0.0177	0.0248	0.0041655	644	154602	rs61753907	0.0037	0.0037	0.0031	0.0043	0.0189	0.0036	0.0036	0.0181	0.0178	0.0093	0.0021	0.0040	0	0.0004	0.0181	0.0026	0.0041	0.0189	0.0051	0.0051	0.0049	0.0053	0.0159	0.0048	0.0047	0.0131	0.0120	0.0097	0.0044	0.0022	0.0052	0.0002	0.0004	0.0170	0.0032	0.0057	0.0159	0.225	0.18626	T	0.269	0.22426	T	0.68	0.41398	P	0.027	0.21085	B	0.001579	0.38612	N	0.176617	0.964912	0.81001	D	0.77	0.19370	N	-0.64	0.72125	T	-0.48	0.15782	N	0.066	0.08506	-0.9123	0.46569	T	0.142	0.46257	T	10	0.0041105747	0.00081	T	.	.	.	0.038	0.09825	.	.	0.284112513307	0.28011	0.07511304711046102	0.07447	0.111281827237	0.12551	0.329964995384	0.14929	T	0.042073	0.26065	T	-0.454325	0.01065	T	-0.410446	0.32173	T	0.00785497846881361	0.00092	T	0.776522	0.40920	T	0.051192675	0.09364	0.050252013	0.07850	0.047571544	0.08154	0.052882336	0.08800	-4.506	0.30967	T	.	.	0.080	0.07889	B	.;.	.;.	2.128572	0.27101	17.35	0.99328685768852176	0.59700	0.95908	0.66673	D	AEFBI	0.625359	0.60859	D	-0.0761293898034714	0.38442	2.251537	0.0413767641950699	0.41656	2.506365	0.99996638673327	0.48965	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.45	3.58	0.40133	3.571000	0.53586	2.039000	0.30291	0.676000	0.76740	1.000000	0.71638	0.969000	0.29651	0.988000	0.63387	0.1534:0.0:0.8466:0.0	11.070	0.47216	908	0.22609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4054.11	40	chr9	93308387	.	G	A	4054.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.728;DP=978;ExcessHet=0.1072;FS=1.899;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=1.14;SOR=0.575	GT:AD:DP:GQ:PL	0/1:68,76:144:99:1794,0,1524	19	0	2	0
chr9	93317894	93317894	G	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_001282394:exon30:c.G6761A:p.R2254Q,	.	.	423	1095	3	1	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.006	B	0.0	B	0.681	U	1.000	N	.	.	-0.33	T	-0.991	T	0.107	T	0.109	1.432	10.73	-7.82	-1.527	-1.341	9.016	0.045	0.00669846518553	.	0.000399361	0.0004	0	0	0	0	7.593e-05	0	0.0034	0.0002264	35	154602	rs535240023	9.371e-05	9.645e-05	5.673e-05	0.0001	0.0013	8.066e-05	7.529e-05	0.0011	0.0010	0	0.0001	0.0002	2.553e-05	0	0.0004	7.316e-06	0.0001	0.0013	5.252e-05	5.249e-05	2.569e-05	8.056e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.371	0.11514	T	0.517	0.10572	T	0.006	0.13644	B	0.0	0.01387	B	0.680842	0.10260	U	0.769546	1	0.08975	N	0	0.06538	N	-0.33	0.68329	T	0.59	0.02558	N	0.113	0.10056	-0.9907	0.32424	T	0.107	0.38857	T	9	0.0050418377	0.00109	T	0.006698	0.17699	T	0.045	0.12272	0.242	0.17524	0.174091166621	0.17034	0.18107429933045505	0.18026	0.160302322173	0.18085	.	.	.	0.033459	0.22922	T	-0.548142	0.00299	T	-0.584772	0.14122	T	0.0245374294991443	0.01212	T	0.563744	0.19863	T	0.01929905	0.00458	0.025154276	0.00551	0.01929905	0.00458	0.025154276	0.00551	-3.94	0.22903	T	.	.	0.099	0.16843	B	.	.	-0.326759	0.02501	0.295	0.87538915959384367	0.17300	0.00262	0.01432	N	AEFDBI	0.059843	0.11331	N	-1.5221239691336	0.01705	0.07460957	-1.67269370439697	0.01263	0.05693797	0.967249661855321	0.28963	0.650006	0.45971	0	0.59043	0.45803	0	0.606735	0.37207	0	0.542086	0.14980	0	.	.	3.91	-7.82	0.01069	-1.767000	0.01893	-0.803000	0.07366	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2868:0.0:0.5942:0.1189	9.016	0.35335	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2284.98	33	chr9	93317894	.	G	A	2284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-6.620e-01;SOR=0.719	GT:AD:DP:GQ:PL	0/1:89,88:177:99:2299,0,2204	20	0	1	0
chr9	98199422	98199422	C	T	exonic	TBC1D2	.	nonsynonymous SNV	TBC1D2:NM_001267572:exon7:c.G1366A:p.E456K	.	.	403	1078	40	1	0	42	0.0191083	.	.	701105	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.432	B	0.039	B	0.090	N	1.000	N	1.79	L	3.5	T	-0.987	T	0.013	T	0.336	3.042	16.15	3.5	0.641	1.029	9.281	0.028	.	0.0070	0.00399361	0.0078	0.0025	0.0040	0	0.0074	0.0093	0.0056	0.0119	0.0075872	1173	154602	rs34769888	0.0071	0.0071	0.0068	0.0074	0.0154	0.0070	0.0069	0.0128	0.0118	0.0013	0.0042	0.0184	5.038e-05	0.0071	0.0154	0.0070	0.0073	0.0119	0.0060	0.0060	0.0061	0.0058	0.0151	0.0056	0.0055	0.0123	0.0113	0.0018	0.0022	0.0039	0.0210	0.0004	0.0057	0.0034	0.0081	0.0047	0.0151	0.016	0.51853	D	0.143	0.35840	T	0.306	0.35621	B	0.017	0.23607	B	0.089520	0.20424	N	0.512441	0.999997	0.58761	D	2.3	0.65703	M	3.11	0.08810	T	-1.28	0.32185	N	0.092	0.07811	-0.9873	0.33273	T	0.013	0.05177	T	10	0.003650248	0.00067	T	.	.	.	0.028	0.06331	.	.	0.371903410333	0.36803	0.30874163509496355	0.30787	0.338595813605	0.35820	0.383564561605	0.22761	T	0.006655	0.06077	T	-0.519326	0.00444	T	-0.508364	0.21483	T	0.0119895157421694	0.00189	T	0.741226	0.36032	T	0.047576625	0.08154	0.09102525	0.21379	0.047576625	0.08154	0.09102525	0.21379	-6.171	0.47687	T	.	.	0.074	0.08224	B	.;.;.;.	.;.;.;.	2.443220	0.31445	18.74	0.99390375900233052	0.62292	0.80830	0.40369	D	AEFBI	0.225969	0.34998	N	-0.584721243569984	0.19409	1.015525	-0.599587913781034	0.19504	1.046703	0.998571519230402	0.37226	0.706298	0.61202	0	0.633656	0.55848	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.34	3.5	0.39181	0.450000	0.21475	1.389000	0.26100	0.580000	0.29708	0.018000	0.19461	0.879000	0.27682	0.035000	0.13729	0.0:0.8294:0.0:0.1706	9.281	0.36888	630	0.65016	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1572.11	38	chr9	98199422	.	C	T	1572.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.160e-01;DP=794;ExcessHet=0.1072;FS=0.638;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.930;SOR=0.627	GT:AD:DP:GQ:PL	0/1:37,33:70:99:785,0,958	19	0	2	0
chr9	104694845	104694845	A	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.A424G:p.T142A,	.	.	433	1035	54	0	0	54	0.0254237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.889	P	0.46	P	0.002	N	1.000	N	1.79	L	4.45	T	-1.011	T	0.008	T	0.275	2.495	14.30	3.75	1.560	0.088	10.433	0.043	.	0.0029	0.00539137	0.0056	0.0006	0.0030	0	0.0003	0.0034	0.0077	0.0246	0.0050323	778	154602	rs139937095	0.0039	0.0039	0.0031	0.0046	0.0233	0.0038	0.0038	0.0224	0.0221	0.0003	0.0023	0.0246	0	0.0002	0.0179	0.0022	0.0058	0.0233	0.0027	0.0027	0.0025	0.0030	0.0174	0.0025	0.0024	0.0144	0.0133	0.0005	0	0.0027	0.0308	0.0006	0	0.0034	0.0022	0.0052	0.0174	0.001	0.78490	D	0.061	0.45530	T	0.889	0.48869	P	0.46	0.46423	P	0.002207	0.37012	N	0.121018	1	0.08975	N	1.56	0.39490	L	4.45	0.02121	T	-4.85	0.81107	D	0.056	0.02759	-1.0109	0.26635	T	0.008	0.02926	T	10	0.0064913332	0.00147	T	.	.	.	0.043	0.11576	.	.	0.346768085243	0.34289	0.17119933839543708	0.17039	0.0913270158701	0.10314	0.211758986115	0.00888	T	0.006661	0.06088	T	-0.558641	0.00259	T	-0.556301	0.16727	T	0.0682928540585661	0.08410	T	0.577142	0.20757	T	0.453373	0.64255	0.6090316	0.77262	0.453373	0.64255	0.6090316	0.77263	-6.246	0.48293	T	.	.	0.088	0.11797	B	.;.	.;.	2.845789	0.37553	20.5	0.99637367300904922	0.76449	0.06597	0.12612	N	AEFDGI	0.071517	0.14241	N	-0.137321255061406	0.35777	2.059277	-0.253945567421244	0.29635	1.661925	3.58516400389856E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	3.75	0.42236	0.037000	0.13728	4.788000	0.44881	0.733000	0.85838	0.000000	0.06391	0.255000	0.23945	0.716000	0.34643	1.0:0.0:0.0:0.0	10.433	0.43603	883	0.28872	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	0.04762	3995.11	136	chr9	104694845	.	A	G	3995.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.45;DP=2288;ExcessHet=0.1072;FS=0.394;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.88;MQRankSum=0.808;QD=11.82;ReadPosRankSum=0.799;SOR=0.667	GT:AD:DP:GQ:PL	0/1:88,78:166:99:2110,0,2309	19	0	2	0
chr9	104817352	104817352	T	C	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon24:c.A3515G:p.E1172G,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	1533876	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.001	B	0.003	B	0.000	D	1.000	D	1.355	L	-1.82	D	-0.351	T	0.467	T	0.578	3.097	16.34	5.88	2.246	5.981	16.301	0.242	0.0417735243479	7.7e-05	0.00219649	0.0013	0	0.0003	0	0	0.0002	0.0011	0.0089	0.0011578	179	154602	rs142877738	0.0007	0.0007	0.0004	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	0	6.708e-05	0	2.519e-05	0	0.0019	8.723e-05	0.0007	0.0095	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	8.82e-05	0	0.0077	0.266	0.16251	T	0.357	0.17115	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.047798	1	0.81001	D	2.31	0.66127	M	-1.82	0.84047	D	-0.58	0.17417	N	0.661	0.67045	-0.3506	0.73536	T	0.467	0.79449	T	10	0.009284675	0.00210	T	0.041774	0.60110	D	0.242	0.54781	.	.	0.902338567141	0.90136	0.6312349425787799	0.63057	0.43613436949	0.43717	0.698027729988	0.66859	T	0.292333	0.66506	T	-0.217907	0.18280	T	-0.0785352	0.65011	T	0.0398968237543268	0.03671	T	0.821218	0.48050	T	0.29431915	0.52391	0.14623089	0.34652	0.29431915	0.52391	0.14623089	0.34651	-2.547	0.06111	T	0.1327287155627337	0.14178	0.234	0.46722	B	.	.	4.379469	0.67488	25.1	0.99713336362742777	0.81493	0.98983	0.89528	D	AEFDBI	0.807084	0.73122	D	0.0166659872869543	0.42613	2.570887	0.223228450342942	0.51139	3.299079	0.999999999979984	0.74766	0.740787	0.97801	0	0.59043	0.45803	0	0.65145	0.50148	0	0.673998	0.66042	0	.	.	5.88	5.88	0.94564	5.957000	0.70042	7.853000	0.71059	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.301	0.82641	947	0.11584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2047.98	34	chr9	104817352	.	T	C	2047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.441;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.84;ReadPosRankSum=-3.780e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/1:58,80:138:99:2062,0,1310	20	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.977	D	0.002	N	0.528	D	1.87	L	0.88	T	-0.548	T	0.199	T	0.636	0.801	8.213	4.73	1.367	2.869	8.596	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1628.87	70	chr9	110137052	.	G	C	1628.87	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-2.866e+00;DP=1349;ExcessHet=3.5521;FS=192.403;InbreedingCoeff=-0.3771;MLEAC=10;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.60;ReadPosRankSum=0.889;SOR=10.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,16:62:99:0|1:110137052_G_C:231,0,1652:110137052	6	0	8	7
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.996	D	0.000	D	0.802	D	1.445	L	0.85	T	-0.701	T	0.211	T	0.556	0.977	8.990	4.46	2.691	3.205	11.752	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:46,0,16:62:99:0|1:110137052_G_C:231,369,2066,0,1698,1652:110137052	10	0	2	4
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.989	D	0.000	D	0.555	D	1.79	L	0.82	T	-0.607	T	0.231	T	0.281	1.466	10.85	4.46	2.691	3.205	11.752	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	1505.95	70	chr9	110137054	.	G	C,A	1505.95	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.967e+00;DP=1369;ExcessHet=2.5830;FS=184.238;InbreedingCoeff=-0.2728;MLEAC=2,6;MLEAF=0.059,0.176;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.29;SOR=10.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:46,0,16:62:99:0|1:110137052_G_C:231,369,2066,0,1698,1652:110137052	10	0	2	4
chr9	111713160	111713160	T	C	exonic	SHOC1	.	nonsynonymous SNV	SHOC1:NM_001378212:exon13:c.A2014G:p.I672V	.	.	838	646	27	11	0	49	0.0365399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.802	P	0.337	B	0.017	N	1.000	N	0.975	L	3.6	T	-0.991	T	0.012	T	0.158	1.669	11.54	1.57	0.352	0.722	7.601	0.051	.	0.0012	0.00399361	0.0067	0.0001	0.0012	0	0.0002	0.0030	0.0056	0.0327	0.0043919	679	154602	rs77603777	0.0026	0.0026	0.0017	0.0035	0.0273	0.0025	0.0025	0.0264	0.0260	0.0001	0.0008	0.0049	5.142e-05	9.446e-05	0.0120	0.0009	0.0028	0.0273	0.0018	0.0018	0.0012	0.0023	0.0222	0.0016	0.0015	0.0188	0.0175	0.0003	0	0.0017	0.0043	0	0	0.0170	0.0015	0.0014	0.0222	0.112	0.35537	T	0.159	0.31527	T	.	.	.	.	.	.	0.016668	0.27917	N	0.310911	0.960653	0.26138	N	.	.	.	3.58	0.04594	T	0.01	0.06868	N	0.186	0.25006	-0.9908	0.32398	T	0.012	0.04510	T	10	0.005660802	0.00126	T	.	.	.	0.051	0.14325	.	.	0.0297737177859	0.01360	0.12250603467386734	0.12177	0.238885580098	0.26443	.	.	.	.	.	.	-0.575007	0.00207	T	-0.578462	0.14682	T	0.0271089205306504	0.01560	T	0.608739	0.23867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.30211	B	.;.;.;.	.;.;.;.	1.732206	0.22045	15.46	0.9281016935863946	0.22335	0.75720	0.37088	D	AEFGI	0.152045	0.27665	N	-0.20663209233838	0.32861	1.857969	-0.156974835452625	0.33140	1.89268	0.322556305796933	0.19399	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	1.57	0.22490	0.737000	0.25812	0.461000	0.18618	0.587000	0.30956	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.1311:0.0:0.2731:0.5958	7.601	0.27245	362	0.84826	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	3004.68	34	chr9	111713160	.	T	C	3004.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.130e-01;DP=900;ExcessHet=0.3300;FS=0.450;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.23;SOR=0.725	GT:AD:DP:GQ:PL	0/1:55,42:97:99:1003,0,1433	18	0	3	0
chr9	112460709	112460709	G	A	exonic	C9orf147	.	nonsynonymous SNV	C9orf147:NM_001350649:exon4:c.C298T:p.R100W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs777347047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	1.314e-05	0	2.718e-05	0.0002	2.2e-06	8.3e-07	.	.	0	0	0	0	0.0002	0	0	1.473e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	32.13	4	chr9	112460709	.	G	A	32.13	.	AC=2;AF=0.050;AN=40;DP=90;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2144;MLEAC=1;MLEAF=0.025;MQ=60.00;QD=16.07;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	19	1	0	1
chr9	113425366	113425368	GCA	-	exonic	C9orf43	.	nonframeshift deletion	C9orf43:NM_001278629:exon10:c.888_890del:p.Q304del	.	.	0	191	29	0	6	35	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0455	.	0.0077	0.0081	0.0088	0.0112	0.0082	0.0065	0.0057	0.0093	0.0003074	8	26028	rs371732185	9.978e-05	0.0028	8.758e-05	0.0001	0.0007	8.629e-05	8.095e-05	0.0002	0.0001	6.014e-05	9.044e-05	7.73e-05	0.0002	0.0002	0.0007	9.397e-05	3.334e-05	0.0001	1.317e-05	3.94e-05	1.288e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1735.12	34	chr9	113425365	.	GGCA	G,GGCAGCA	1735.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.392;DP=680;ExcessHet=0.6776;FS=4.348;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-5.560e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/2:21,0,11:32:99:399,462,1303,0,841,808	17	0	1	0
chr9	113425368	113425368	-	GCA	exonic	C9orf43	.	nonframeshift insertion	C9orf43:NM_001278629:exon10:c.890_891insGCA:p.Q304_K305insQ	.	.	0	191	29	0	6	35	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1735.12	34	chr9	113425365	.	GGCA	G,GGCAGCA	1735.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.392;DP=680;ExcessHet=0.6776;FS=4.348;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-5.560e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/2:21,0,11:32:99:399,462,1303,0,841,808	17	0	1	0
chr9	113583835	113583835	C	A	exonic	RGS3	.	nonsynonymous SNV	RGS3:NM_001276260:exon2:c.C386A:p.T129N	.	.	424	1085	12	1	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.257	B	0.074	B	0.631	N	0.956	D	0	N	0.97	T	-1.043	T	0.064	T	0.022	1.893	12.29	1.48	0.340	-0.179	1.652	0.065	0.0116383772757	0.0016	0.00139776	0.0020	0.0002	0.0010	0	0.0006	0.0021	0.0033	0.0047	0.0018176	281	154602	rs144636307	0.0018	0.0018	0.0017	0.0019	0.0054	0.0017	0.0017	0.0039	0.0037	0.0002	0.0009	0.0039	2.519e-05	0.0005	0.0054	0.0017	0.0019	0.0042	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0022	0.0018	0.0002	0.0088	0.0005	0.0035	0.0002	0.0004	0.0034	0.0013	0.0009	0.0035	0.006	0.61437	D	0.474	0.15842	T	0.097	0.25541	B	0.016	0.17743	B	0.630887	0.10688	N	0.812091	0.956274	0.37966	D	0	0.06538	N	0.97	0.56281	T	0.08	0.09460	N	0.087	0.09631	-1.0432	0.16354	T	0.064	0.26385	T	10	0.0032565594	0.00056	T	0.011638	0.29466	T	0.065	0.18881	.	.	0.401185642668	0.39728	0.12725123018716517	0.12651	0.240522541658	0.26595	0.288265168667	0.08670	T	0.056486	0.30300	T	-0.597793	0.00150	T	-0.631472	0.10304	T	0.00878968984380188	0.00108	T	0.666633	0.27564	T	0.2586204	0.48912	0.08210692	0.18713	0.2586204	0.48912	0.08210692	0.18712	-4.236	0.30652	T	.	.	0.084	0.10739	B	.;.;.;.;.	.;.;.;.;.	0.603442	0.09717	6.488	0.93831056247187894	0.23818	0.14723	0.18552	N	AEFDBCI	0.068592	0.13537	N	-0.92594889838333	0.10238	0.4882922	-0.928952033967369	0.11413	0.581253	0.999957443507595	0.48110	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.42	1.48	0.21900	0.387000	0.20445	0.891000	0.22473	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.219000	0.22435	0.1685:0.4829:0.1638:0.1849	1.652	0.02606	866	0.32446	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3689.11	34	chr9	113583835	.	C	A	3689.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.27;DP=1012;ExcessHet=0.1072;FS=3.045;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.61;SOR=0.829	GT:AD:DP:GQ:PL	0/1:87,69:156:99:1698,0,2189	19	0	2	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.956	D	0.000	D	1.000	D	2.295	M	3.72	T	-1.147	T	0.071	T	0.888	2.729	15.09	4.38	2.485	0.438	9.668	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3529	5368.01	152	chr9	114406374	.	C	G	5368.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.027e+00;DP=4227;ExcessHet=9.6308;FS=138.874;InbreedingCoeff=-0.5312;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.063;SOR=12.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,60:190:99:0|1:114406374_C_G:852,0,3965:114406374	5	0	12	4
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.295	M	3.67	T	-1.010	T	0.111	T	0.82	3.969	20.3	5.29	2.485	5.391	18.935	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2632	4474.23	143	chr9	114406375	.	C	G	4474.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.573e+00;DP=3997;ExcessHet=6.1002;FS=130.641;InbreedingCoeff=-0.3565;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.30;ReadPosRankSum=0.216;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,60:190:99:0|1:114406374_C_G:852,0,3965:114406374	9	0	10	2
chr9	121142260	121142260	T	C	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon8:c.T1205C:p.L402S	.	.	435	1067	20	0	0	20	0.00928505	.	.	711740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.963	D	0.744	P	.	.	1.000	N	0.895	L	2.55	T	-1.080	T	0.034	T	0.292	3.849	19.55	5.49	2.086	3.826	14.757	0.077	.	0.0081	0.00499201	0.0083	0.0017	0.0063	0	0.0027	0.0108	0.0145	0.0100	0.0080594	1246	154602	rs148672807	0.0093	0.0093	0.0091	0.0095	0.0107	0.0092	0.0091	0.0102	0.0101	0.0012	0.0079	0.0032	2.527e-05	0.0023	0.0101	0.0103	0.0089	0.0107	0.0068	0.0068	0.0069	0.0067	0.0115	0.0064	0.0063	0.0099	0.0096	0.0021	0.0011	0.0088	0.0014	0.0002	0.0011	0.0068	0.0105	0.0076	0.0115	0.054	0.63226	T	0.015	0.72224	D	0.937	0.52445	P	0.559	0.49531	P	.	.	.	.	0.950942	0.37717	D	2.255	0.64187	M	2.55	0.13795	T	-0.87	0.43149	N	0.719	0.72120	-1.0801	0.07330	T	0.034	0.14552	T	9	0.0053949654	0.00118	T	.	.	.	0.077	0.22490	.	.	0.245101548738	0.24120	0.36758582996909256	0.36672	0.367394151013	0.38298	0.546920776367	0.45423	T	0.033155	0.25247	T	-0.489914	0.00650	T	-0.464828	0.26076	T	0.0206042897419058	0.00760	T	0.844715	0.53011	T	0.15042207	0.34244	0.18568857	0.41697	0.15042207	0.34243	0.18568857	0.41696	-5.843	0.50410	T	.	.	0.385	0.60351	A	.;.;.;.	.;.;.;.	4.257450	0.64674	24.7	0.99843809904993919	0.92403	0.95716	0.65851	D	AEFDGBI	0.392790	0.47069	N	0.362254186256515	0.59389	4.117966	0.425665204364704	0.63168	4.545375	0.999999990792229	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	3.828000	0.55453	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	14.757	0.69189	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	835.11	19	chr9	121142260	.	T	C	835.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=581;ExcessHet=0.1072;FS=6.483;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.15;SOR=0.207	GT:AD:DP:GQ:PL	0/1:14,16:30:99:381,0,423	19	0	2	0
chr9	121154767	121154767	A	G	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon16:c.A2563G:p.I855V	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.048	B	0.015	B	.	.	1.000	N	1.5	L	2.57	T	-0.884	T	0.256	T	0.099	1.042	9.257	1.93	0.135	0.100	0.594	0.070	0.016134708701	0.0004	0.000399361	0.0003	0	0	0	0.0003	0.0005	0	0.0003	0.0003299	51	154602	rs149632088	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	2.99e-05	0.0001	0	0	7.489e-05	0	0.0005	0.0004	0.0002	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	7.217e-05	0	0.0002	0	0.0002	0	0	0.0005	0	0.0004	0.384	0.11696	T	0.755	0.12597	T	0.048	0.22112	B	0.015	0.17295	B	.	.	.	.	0.995855	0.24499	N	2.44	0.70756	M	2.57	0.77336	T	-0.22	0.10480	N	0.074	0.11483	-0.8844	0.49406	T	0.256	0.62654	T	9	0.01641056	0.00346	T	0.016135	0.37248	T	0.070	0.20419	.	.	0.39208347742	0.38818	0.022881110831130678	0.02240	0.0431747379914	0.04650	0.375946044922	0.21681	T	0.014213	0.14377	T	-0.389535	0.02709	T	-0.430874	0.29837	T	0.0413374544269704	0.03932	T	0.694431	0.32279	T	0.02191746	0.00821	0.04584212	0.06257	0.02191746	0.00821	0.04584212	0.06256	-2.984	0.10332	T	.	.	0.084	0.10739	B	.;.;.;.;.	.;.;.;.;.	1.458455	0.18805	13.93	0.81589166948577285	0.13760	0.70482	0.34609	D	AEFGBHCI	0.103306	0.20700	N	-0.522625825162849	0.21349	1.132375	-0.393116978087858	0.25201	1.384498	0.99999999997078	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.58	1.93	0.24985	0.057000	0.14157	2.607000	0.33555	-0.050000	0.17177	0.981000	0.35396	1.000000	0.68203	0.970000	0.54328	0.3991:0.2274:0.1411:0.2325	0.594	0.00685	923	0.18507	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1085.98	42	chr9	121154767	.	A	G	1085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.520e-01;DP=858;ExcessHet=0.0000;FS=7.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=2.14;SOR=0.942	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1100,0,967	20	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A,	.	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.012	B	0.119	N	1.000	N	1.045	L	8.47	T	-0.981	T	0.000	T	0.241	-0.246	2.815	3.09	0.623	0.717	7.537	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	10749.2	301	chr9	122724732	.	T	C	10749.2	.	AC=12;AF=0.429;AN=28;BaseQRankSum=8.60;DP=6952;ExcessHet=9.6308;FS=27.314;InbreedingCoeff=-0.5849;MLEAC=15;MLEAF=0.536;MQ=58.33;MQRankSum=-1.529e+01;QD=2.73;ReadPosRankSum=-7.300e+00;SOR=4.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,40:303:99:0|1:122724732_T_C:777,0,10747:122724732	2	0	12	7
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A,	.	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.003	B	0.363	N	1.000	N	-0.46	N	0.93	T	-1.008	T	0.042	T	0.097	-1.802	0.009	-7.85	-1.692	-2.805	8.760	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3529	6434.01	290	chr9	122724738	.	T	C	6434.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.102;DP=5824;ExcessHet=9.6308;FS=29.363;InbreedingCoeff=-0.5013;MLEAC=14;MLEAF=0.412;MQ=58.45;MQRankSum=-1.685e+01;QD=1.74;ReadPosRankSum=-6.376e+00;SOR=6.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,30:286:99:0|1:122724732_T_C:489,0,10633:122724732	5	0	12	4
chr9	125915818	125915818	C	T	exonic	PBX3	.	nonsynonymous SNV	PBX3:NM_001134778:exon3:c.C182T:p.A61V	.	.	425	1071	24	2	0	28	0.0129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	1.46	T	-0.808	T	0.169	T	0.534	3.025	16.09	5.87	2.941	5.472	20.583	0.252	.	0.0061	0.00279553	0.0068	0.0021	0.0065	0	0.0009	0.0081	0.0145	0.0101	0.0067981	1051	154602	rs145687528	0.0086	0.0086	0.0085	0.0087	0.0135	0.0085	0.0084	0.0111	0.0105	0.0016	0.0075	0.0146	0	0.0014	0.0135	0.0091	0.0085	0.0114	0.0062	0.0062	0.0063	0.0061	0.0113	0.0058	0.0057	0.0099	0.0094	0.0017	0	0.0113	0.0133	0	0.0012	0.0170	0.0081	0.0128	0.0100	0.014	0.59928	D	0.013	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.045618	1	0.81001	D	2.215	0.62545	M	1.46	0.32238	T	-2.52	0.58896	D	0.398	0.43899	-0.8085	0.54641	T	0.169	0.50842	T	10	0.008377612	0.00190	T	.	.	.	0.252	0.56159	.	.	0.364535869594	0.36064	0.5215813592853803	0.52081	0.900687736312	0.70621	0.659279584885	0.61305	T	0.152456	0.75873	T	-0.365064	0.03852	T	-0.286778	0.46107	T	0.0387569566226687	0.03466	T	0.945505	0.79398	D	0.46056888	0.64706	0.38526508	0.63447	0.46056888	0.64707	0.38526508	0.63447	-6.053	0.46819	T	.	.	0.266	0.64649	B	.;.;.;.;.	.;.;.;.;.	5.139392	0.86042	28.8	0.99781126894636163	0.86780	0.96113	0.67592	D	AEFBI	0.563643	0.57075	D	0.649353472822166	0.76325	6.46599	0.633237521612499	0.77366	6.665838	1.0	0.98316	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.756605	0.99741	0	.	.	5.87	5.87	0.94266	5.770000	0.68526	7.697000	0.66086	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.583	0.99411	211	0.91797	.;PBX;PBX;PBX;.	.	.	.	.	chr9:128678097	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3313.68	35	chr9	125915818	.	C	T	3313.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.300e-02;DP=894;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-5.250e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1266,0,999	18	0	3	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:38,0,14:52:86:0|1:127707148_G_A:86,191,919,0,727,689:127707148	3	0	11	1
chr9	128123771	128123771	C	G	exonic	PTGES2	.	nonsynonymous SNV	PTGES2:NM_025072:exon4:c.G617C:p.G206A	.	.	405	1100	17	0	0	17	0.00766802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.018	B	0.005	B	0.001	N	0.742	N	0.84	L	2.7	T	-1.031	T	0.046	T	0.368	0.886	8.598	4.94	1.485	1.134	9.317	0.052	0.00599272293728	0.0051	0.00279553	0.0047	0.0013	0.0027	0	0.0009	0.0071	0.0022	0.0030	0.0048447	749	154602	rs149102151	0.0064	0.0064	0.0065	0.0064	0.0085	0.0063	0.0063	0.0066	0.0065	0.0011	0.0032	0.0327	0	0.0012	0.0085	0.0067	0.0084	0.0036	0.0048	0.0048	0.0052	0.0044	0.0064	0.0045	0.0044	0.0059	0.0057	0.0014	0	0.0051	0.0317	0	0.0014	0.0136	0.0064	0.0090	0.0023	0.542	0.07354	T	0.618	0.07493	T	0.018	0.17786	B	0.005	0.11217	B	0.001045	0.40475	N	0.329789	0.742268	0.29722	N	0.9	0.23182	L	2.7	0.39781	T	0.71	0.03352	N	0.245	0.27673	-1.0309	0.20163	T	0.046	0.19640	T	10	0.005123049	0.00111	T	0.005993	0.15638	T	0.052	0.14661	.	.	0.358134431457	0.35428	0.5038510835586986	0.50307	0.237924470368	0.26341	0.355472207069	0.18725	T	0.034972	0.23533	T	-0.453745	0.01073	T	-0.419703	0.31110	T	0.00533943184983495	0.00058	T	0.837116	0.50934	T	0.035751317	0.04267	0.06821036	0.14213	0.035751317	0.04267	0.06821036	0.14213	-3.675	0.18950	T	.	.	0.114	0.25882	B	.;.;.;.	.;.;.;.	2.349446	0.30116	18.34	0.84836035895987727	0.15526	0.95598	0.65363	D	AEFGBI	0.463874	0.51260	N	-0.379033374062348	0.26217	1.429172	-0.186918404973702	0.32016	1.817394	0.99999882638664	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.84	4.94	0.64645	1.164000	0.31420	4.902000	0.45868	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.779:0.0:0.221	9.317	0.37101	243	0.90483	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	877.98	38	chr9	128123771	.	C	G	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.991e+00;DP=792;ExcessHet=0.0000;FS=5.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=0.226;SOR=1.327	GT:AD:DP:GQ:PL	0/1:47,39:86:99:892,0,1272	20	0	1	0
chr9	130397605	130397605	C	-	exonic	HMCN2	.	frameshift deletion	HMCN2:NM_001291815:exon74:c.11276delC:p.A3759Dfs*29,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481734389	8.791e-07	6.84e-07	0	1.792e-06	1.312e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.312e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1427.94	34	chr9	130397604	.	GC	G	1427.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.507;DP=752;ExcessHet=0.0000;FS=4.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.83;ReadPosRankSum=-5.630e-01;SOR=0.964	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1442,0,1035	20	0	1	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,120,0:120:99:3711,360,0,3711,360,3711	0	17	3	0
chr9	133636447	133636447	G	A	exonic	DBH	.	nonsynonymous SNV	DBH:NM_000787:exon1:c.G76A:p.V26M,	Dopamine beta-hydroxylase deficiency, Autosomal recessive	.	0	1486	35	1	0	37	0.0122964	.	.	711829	Orthostatic_hypotension_1|not_provided	MONDO:MONDO:0009123,MedGen:C4746777,OMIM:223360,Orphanet:230|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.933	P	0.486	P	0.000	D	0.985	D	2.19	M	0.75	T	-0.815	T	0.144	T	0.35	3.359	17.32	4.6	2.597	1.009	5.443	0.136	.	0.0032	0.00339457	0.0059	0.0007	0.0015	0	0.0098	0.0063	0.0102	0.0117	0.0051487	796	154602	rs76856960	0.0042	0.0042	0.0038	0.0047	0.0121	0.0042	0.0041	0.0115	0.0113	0.0007	0.0013	0.0002	2.52e-05	0.0081	0.0087	0.0039	0.0040	0.0121	0.0038	0.0038	0.0036	0.0040	0.0135	0.0035	0.0034	0.0108	0.0099	0.0006	0	0.0011	0	0	0.0077	0.0068	0.0055	0.0024	0.0135	0.047	0.40319	D	0.12	0.35970	T	0.933	0.52105	P	0.486	0.47228	P	0.000153	0.49130	D	0.142348	0.984519	0.40156	D	2.655	0.77738	M	0.61	0.53516	T	-0.67	0.19297	N	0.435	0.47395	-0.8147	0.54263	T	0.144	0.46732	T	10	0.008224636	0.00187	T	.	.	.	0.136	0.36778	.	.	0.587841187436	0.58458	0.4972692727210983	0.49647	0.252428851654	0.27810	0.543708086014	0.44969	T	0.255027	0.62576	T	-0.418534	0.01747	T	-0.36294	0.37713	T	0.0253813861061539	0.01323	T	0.89581	0.63671	D	0.05349568	0.10131	0.076630645	0.16992	0.06468914	0.13749	0.076630645	0.16992	-4.296	0.28121	T	.	.	0.124	0.34049	B	.;.	.;.	3.895074	0.56705	23.8	0.99857819670913306	0.93639	0.73113	0.35768	D	AEFDGBCIJ	0.319942	0.42319	N	0.339657049294887	0.58197	3.990484	0.328536396701428	0.57223	3.887275	0.997235787048308	0.35404	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.5	4.6	0.56512	1.197000	0.31819	9.733000	0.81406	0.618000	0.50648	0.721000	0.28831	1.000000	0.68203	0.929000	0.46594	0.0763:0.1423:0.6343:0.1472	5.443	0.15817	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2387.98	34	chr9	133636447	.	G	A	2387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.325e+00;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.81;ReadPosRankSum=1.34;SOR=0.714	GT:AD:DP:GQ:PL	0/1:64,87:151:99:2402,0,1809	20	0	1	0
chr9	134690995	134690995	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon2:c.C193T:p.R65W	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	1	1501	20	0	0	20	0.00661813	.	.	209971	Fibromuscular_dysplasia,_multifocal|Ehlers-Danlos_syndrome,_classic_type,_1|Connective_tissue_disorder|not_provided|Ehlers-Danlos_syndrome_type_7A|not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome	MONDO:MONDO:0859151,MedGen:C5543412,OMIM:619329|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0020521,MedGen:C3508773|MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	U	0.633	N	2.91	M	0.7	T	-0.236	T	0.318	T	0.843	1.042	9.258	1.34	0.373	1.158	14.085	0.335	0.0764477722206	0.0013	0.000399361	0.0019	0	0.0017	0	0	0.0019	0.0033	0.0054	0.0018176	281	154602	rs139468527	0.0017	0.0017	0.0014	0.0019	0.0062	0.0016	0.0016	0.0058	0.0056	0.0001	0.0023	0.0083	0	3.774e-05	0.0057	0.0013	0.0021	0.0062	0.0014	0.0014	0.0013	0.0015	0.0054	0.0013	0.0012	0.0038	0.0032	9.616e-05	0	0.0025	0.0098	0	0	0.0034	0.0016	0.0019	0.0054	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	U	0.000000	0.632591	0.30685	N	3.29	0.90338	M	0.7	0.51474	T	-4.97	0.82063	D	0.881	0.87917	-0.2356	0.76740	T	0.318	0.68726	T	10	0.06795913	0.09544	T	0.076448	0.72534	D	0.335	0.65718	.	.	0.651798039095	0.64890	0.6690222893281671	0.66840	0.655015074409	0.58561	0.643406689167	0.59049	T	0.661259	0.89837	D	-0.127657	0.31876	T	0.0460492	0.73322	D	0.107522207775207	0.13165	T	0.987301	0.96411	D	0.43756995	0.63245	0.2501997	0.50605	0.46538565	0.65007	0.30246904	0.56277	-12.984	0.89298	D	.	.	0.646	0.70747	P	.;.	.;.	3.405647	0.47215	22.4	0.97865491911394409	0.36492	0.54068	0.29525	D	AEFDGBI	0.439432	0.49841	N	-0.111112687334822	0.36908	2.139853	-0.362000893962134	0.26141	1.441954	0.993369948445528	0.33186	0.719381	0.83141	0	0.563428	0.19063	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.68	1.34	0.21018	1.258000	0.32547	1.305000	0.25500	0.599000	0.40250	0.570000	0.27505	0.708000	0.26274	0.005000	0.06747	0.4606:0.5394:0.0:0.0	14.085	0.64477	940	0.13648	Laminin G domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	3310.98	34	chr9	134690995	.	C	T	3310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.803;DP=1065;ExcessHet=0.0000;FS=1.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.65;ReadPosRankSum=-1.097e+00;SOR=0.796	GT:AD:DP:GQ:PL	0/1:201,142:343:99:3325,0,4984	20	0	1	0
chr9	136221864	136221864	T	G	exonic	QSOX2	.	nonsynonymous SNV	QSOX2:NM_181701:exon6:c.A753C:p.K251N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.969	D	0.621	P	0.002	N	0.993	N	2.815	M	-0.29	T	-0.347	T	0.294	T	0.076	0.449	6.440	-9.3	-3.840	-0.890	11.707	0.291	0.100908486897	.	.	4.135e-05	0	0.0004	0	0	0	0	0	3.23e-05	5	154602	rs769799230	1.027e-05	1.026e-05	1.09e-05	9.634e-06	0.0002	6.17e-06	4.89e-06	7.31e-05	5.179e-05	0	0.0002	0	0	0	0	7.197e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.016	0.60972	D	0.969	0.56768	D	0.621	0.51426	P	0.001742	0.38106	N	0.259094	0.992834	0.23817	N	3.15	0.88382	M	-0.29	0.67712	T	-3.65	0.69950	D	0.194	0.21319	-0.3474	0.73628	T	0.294	0.66564	T	10	0.27817625	0.45387	T	0.100908	0.77347	D	0.291	0.61040	0.471	0.54537	0.17948927462	0.17512	0.5972881170046579	0.59659	0.349805005506	0.36829	0.297544240952	0.10035	T	0.247198	0.61680	T	-0.370922	0.03547	T	-0.473021	0.25191	T	0.397390455007553	0.28844	T	0.612939	0.23352	T	0.032563213	0.03305	0.051430073	0.08275	0.032563213	0.03305	0.051430073	0.08274	-6.683	0.51682	T	.	.	0.131	0.28232	B	.	.	1.091581	0.14752	11.30	0.76920300089981553	0.11663	0.08170	0.14132	N	AEFGBI	0.082749	0.16758	N	-1.34385586591131	0.03189	0.1420368	-1.68497477122159	0.01205	0.05425879	0.999999999334324	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.65	-9.3	0.00551	-0.415000	0.07170	-3.207000	0.02971	-0.710000	0.03952	0.537000	0.27244	0.000000	0.08366	0.015000	0.10482	0.0:0.486:0.1655:0.3486	11.707	0.50866	708	0.56926	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1549.98	33	chr9	136221864	.	T	G	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=845;ExcessHet=0.0000;FS=3.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=1.22;SOR=0.868	GT:AD:DP:GQ:PL	0/1:90,63:153:99:1564,0,2280	20	0	1	0
chr9	136383545	136383545	-	GCTGCT	exonic	SNAPC4	.	nonframeshift insertion	SNAPC4:NM_003086:exon15:c.1623_1624insAGCAGC:p.S542_E543insSS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6548.32	36	chr9	136383542	.	CGCT	C,CGCTGCTGCT	6548.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.600e-02;DP=974;ExcessHet=0.9430;FS=6.521;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-6.600e-02;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,40,0:40:99:1801,121,0,1801,121,1801	13	1	6	0
chr9	136909938	136909938	C	T	exonic	TRAF2	.	nonsynonymous SNV	TRAF2:NM_021138:exon6:c.C547T:p.P183S,	.	.	.	.	.	.	.	.	.	.	.	2464270	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.935	P	0.734	P	0.000	D	1.000	D	2.515	M	1.45	T	-0.729	T	0.167	T	0.657	3.634	18.48	4.53	2.235	4.972	17.210	0.193	0.145787243379	.	.	1.676e-05	0	0	0	0	1.524e-05	0	6.13e-05	1.29e-05	2	154602	rs750248731	8.893e-06	8.893e-06	8.167e-06	9.626e-06	0.0002	4.96e-06	3.82e-06	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	3.597e-06	1.656e-05	8.116e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.083	0.33091	T	0.116	0.42976	T	0.935	0.52277	P	0.734	0.55432	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.46	0.71463	M	1.45	0.32958	T	-5.52	0.85994	D	0.666	0.67477	-0.7290	0.59014	T	0.167	0.50583	T	10	0.41251552	0.56321	T	0.145787	0.82796	D	0.193	0.47281	.	.	0.406146819375	0.40232	0.6849484493718797	0.68433	0.683800107588	0.60187	0.530092716217	0.43048	T	0.354269	0.72144	T	-0.0408928	0.45816	T	-0.199662	0.54679	T	0.979909360408783	0.73075	D	0.878012	0.59262	D	0.31348094	0.54085	0.30058476	0.56092	0.31348094	0.54085	0.30058476	0.56091	-5.888	0.45333	T	.	.	0.148	0.41372	B	.;.	.;.	4.280481	0.65203	24.8	0.99872143954748671	0.94989	0.96379	0.68851	D	AEFGBI	0.520660	0.54542	D	0.450348338376533	0.64223	4.672015	0.426351019389987	0.63213	4.550557	0.999999998773506	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.53	4.53	0.55009	6.767000	0.74770	4.671000	0.44278	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:1.0:0.0:0.0	17.210	0.86811	808	0.43318	.;Zinc finger, TRAF-type|Zinc finger, TRAF-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1545.98	39	chr9	136909938	.	C	T	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.610e-01;DP=897;ExcessHet=0.0000;FS=1.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-5.790e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/1:47,64:111:99:1560,0,1159	20	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	D	1.0	D	0.999	D	0.002	N	0.965	D	4.415	H	3.59	T	-0.964	T	0.083	T	0.733	3.141	16.50	4.14	1.500	3.517	6.268	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1261.11	33	chr9	137169519	.	A	C	1261.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.129e+00;DP=834;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=1.20;SOR=0.656	GT:AD:DP:GQ:PL	0/1:49,37:86:99:721,0,1248	19	0	2	0
chr9	137171436	137171436	A	G	exonic	TMEM210	.	nonsynonymous SNV	TMEM210:NM_001282477:exon3:c.T232C:p.C78R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0865429938913	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372937289	2.169e-06	2.052e-06	1.427e-06	2.93e-06	3.166e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.166e-05	0	0	0	0	0	1.854e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.385	0.34509	L	.	.	.	-6.9	0.93293	D	0.273	0.30914	.	.	.	.	.	.	.	0.16801155	0.31329	T	0.086543	0.74757	D	.	.	.	.	0.0986583533028	0.09354	0.10168264689638203	0.10099	6.2886556297E-4	0.00059	.	.	.	0.125093	0.45056	T	-0.260438	0.12849	T	-0.352198	0.38953	T	.	.	.	0.377862	0.09067	T	0.6364701	0.74643	0.54453856	0.73673	0.6364701	0.74644	0.54453856	0.73674	-1.716	0.02271	T	.	.	0.112	0.21840	B	.	.	1.292254	0.16934	12.85	0.79240635066253706	0.12653	0.03344	0.08425	N	AEFDGBHCI	0.174632	0.30177	N	.	.	.	.	.	.	0.999987779426984	0.51787	0.59774	0.34471	0	0.578056	0.33634	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.37	0.996	0.18963	0.253000	0.18066	0.672000	0.20602	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.728:0.0:0.272:0.0	4.872	0.12995	994	0.00715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	563.98	37	chr9	137171436	.	A	G	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=789;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.73;ReadPosRankSum=-1.400e+00;SOR=0.812	GT:AD:DP:GQ:PL	0/1:47,26:73:99:578,0,1145	20	0	1	0
chr9	137306981	137306981	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon22:c.C2600T:p.P867L,	.	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.004	B	.	.	1.000	N	0.69	N	0.63	T	-1.055	T	0.084	T	0.105	1.236	10.02	-6.17	-1.915	-2.324	2.096	0.035	.	0.0038	0.00778754	0.0068	0.0006	0.0033	0.0001	0.0021	0.0059	0.0094	0.0271	0.0058343	902	154602	rs118011827	0.0049	0.0049	0.0044	0.0055	0.0177	0.0048	0.0048	0.0170	0.0167	0.0006	0.0036	0.0045	5.061e-05	0.0017	0.0132	0.0044	0.0056	0.0177	0.0037	0.0037	0.0038	0.0036	0.0180	0.0034	0.0033	0.0150	0.0138	0.0011	0	0.0041	0.0063	0	0.0015	0	0.0046	0.0057	0.0180	0.289	0.15047	T	0.089	0.40426	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.63	0.53088	T	-0.84	0.22944	N	0.064	0.03613	-1.0552	0.12987	T	0.084	0.32814	T	9	0.002650559	0.00041	T	.	.	.	0.035	0.08770	.	.	0.0401082797425	0.02173	0.13143889159918148	0.13068	0.0537485315339	0.05938	0.293423980474	0.09424	T	0.004025	0.03433	T	-0.625299	0.00102	T	-0.656038	0.08536	T	0.000714748461818774	0.00006	T	0.49875	0.15541	T	0.025869284	0.01574	0.032090463	0.01891	0.025869284	0.01573	0.032090463	0.01891	-4.971	0.36523	T	.	.	0.080	0.07745	B	.	.	-0.270247	0.02750	0.368	0.72097194850595092	0.09855	0.00862	0.03425	N	AEFBI	0.048889	0.08390	N	-1.73501616686814	0.00725	0.03129348	-1.84216125642774	0.00633	0.02814956	0.999996336862171	0.74766	0.608966	0.35542	0	0.588066	0.40923	0	0.769059	0.98459	0	0.505526	0.08623	0	.	.	3.79	-6.17	0.01912	-1.162000	0.03252	-3.500000	0.02739	-0.922000	0.02193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.122:0.226:0.3855:0.2666	2.096	0.03445	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	0.04762	2266.11	37	chr9	137306981	.	G	A	2266.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.211e+00;DP=830;ExcessHet=0.1072;FS=0.605;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=1.04;SOR=0.637	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1206,0,810	19	0	2	0
chr9	137814492	137814492	G	A	exonic	EHMT1	.	nonsynonymous SNV	EHMT1:NM_001354263:exon22:c.G3221A:p.R1074H	Kleefstra syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	835982	Kleefstra_syndrome_1	MONDO:MONDO:0027407,MedGen:C0795833,OMIM:610253,Orphanet:261494	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.984	D	0.584	P	0.000	D	1.000	D	1.975	M	-1.05	T	0.013	D	0.462	T	0.46	4.545	24.6	4.44	2.014	7.812	17.052	0.683	0.228153096258	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274172181	2.749e-06	4.104e-06	1.368e-06	4.142e-06	2.987e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	2.987e-05	0	0	0	2.134e-05	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.069	0.43913	T	0.984	0.60733	D	0.584	0.50293	P	0.000000	0.84330	D	0.048691	0.999999	0.58761	D	2.32	0.66415	M	-1.05	0.76690	T	-3.75	0.71157	D	0.545	0.57177	0.013	0.82516	D	0.462	0.79134	T	10	0.72279674	0.73775	D	0.228153	0.88124	D	0.683	0.88396	0.701	0.83777	0.587908032676	0.58465	0.6413039511604204	0.64065	1.94744629028	0.93356	0.738558411598	0.72760	T	0.613366	0.87779	D	0.077798	0.61783	D	-0.126025	0.61305	T	0.986779093742371	0.77411	D	0.978602	0.92442	D	0.7697103	0.82030	0.646241	0.79316	0.7697103	0.82032	0.646241	0.79317	-11.248	0.81001	D	0.4305309797640955	0.51773	0.396	0.59595	A	.;.	.;.	5.789642	0.93562	33	0.99928848113560831	0.99222	0.94398	0.61038	D	AEFDGBCIJ	0.867437	0.78721	D	0.558635340236002	0.70610	5.526792	0.550533214882568	0.71433	5.65435	0.999999973237886	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	7.937000	0.87129	11.519000	0.93038	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.052	0.86396	994	0.00715	Pre-SET domain|Pre-SET domain|Pre-SET domain;Pre-SET domain|Pre-SET domain|Pre-SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	902.98	33	chr9	137814492	.	G	A	902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.074;DP=876;ExcessHet=0.0000;FS=3.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.60;ReadPosRankSum=1.04;SOR=1.099	GT:AD:DP:GQ:PL	0/1:61,44:105:99:917,0,1378	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:31,0,28:59:99:.:.:1081,1174,2450,0,1275,1191	7	0	2	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:71,45:116:99:542,0,1154	5	0	16	0
chr10	5906438	5906438	G	C	exonic	FBH1	.	nonsynonymous SNV	FBH1:NM_001258452:exon3:c.G337C:p.V113L	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.001	B	0.214	N	1.000	N	0	N	.	.	-1.046	T	0.032	T	0.026	-1.081	0.162	-9.0	-2.176	-0.388	4.498	0.005	0.00484465900332	.	0.000998403	0.0007	0	8.66e-05	0	0.0002	1.503e-05	0.0011	0.0047	0.0005692	88	154602	rs148412195	0.0003	0.0003	0.0002	0.0004	0.0044	0.0003	0.0003	0.0041	0.0039	0	0	0	0	0	0.0005	2.338e-05	0.0003	0.0044	0.0001	0.0001	6.422e-05	0.0002	0.0037	8.656e-05	7.25e-05	0.0024	0.0020	0	0	0	0	0	0	0	2.939e-05	0	0.0037	0.629	0.05357	T	0.793	0.04234	T	0.0	0.02946	B	0.0	0.04355	B	0.213652	0.03404	N	1.468140	1	0.08975	N	.	.	.	.	.	.	0.01	0.06868	N	0.037	0.01347	-1.0463	0.15447	T	0.032	0.13592	T	9	0.003368944	0.00059	T	0.004845	0.12130	T	0.005	0.00259	0.156	0.05964	0.043077524339	0.03247	0.10207721457582473	0.10137	0.117668475539	0.13252	0.241480857134	0.02925	T	0.002582	0.15427	T	-0.724198	0.00026	T	-0.81277	0.01604	T	0.00797927610774305	0.00094	T	0.122788	0.00953	T	0.08494001	0.19680	0.028959826	0.01182	0.08494001	0.19680	0.028959826	0.01182	-2.434	0.05346	T	.	.	0.089	0.12084	B	.;.;.	.;.;.	-1.956719	0.00112	0.002	0.35443885880385573	0.02225	0.09025	0.14861	N	AEFDGBHI	0.088919	0.18025	N	-2.24278429393881	0.00061	0.002634269	-2.27052621425352	0.00077	0.003398765	0.999999999245997	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.76	-9.0	0.00641	-0.373000	0.07550	-1.353000	0.05642	-3.231000	0.00107	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3374:0.1843:0.3888:0.0895	4.498	0.11258	794	0.45591	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1763.98	34	chr10	5906438	.	G	C	1763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.44;DP=892;ExcessHet=0.0000;FS=2.322;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=-3.070e-01;SOR=0.470	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1778,0,1549	20	0	1	0
chr10	12106381	12106381	A	T	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon11:c.A2032T:p.T678S,	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.664	P	0.794	P	0.000	D	1.000	D	2.47	M	-2.81	D	0.809	D	0.834	D	0.74	5.031	29.7	6.01	2.315	6.656	15.150	0.766	0.0948513385542	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1046306649	5.472e-06	5.472e-06	2.722e-06	8.25e-06	8.115e-05	2.35e-06	1.7e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.115e-05	6.567e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.02	0.49613	D	0.17	0.30436	T	0.664	0.41009	P	0.794	0.57880	P	0.000006	0.62929	D	0.142305	1	0.81001	D	2.515	0.73286	M	-2.81	0.91134	D	-2.97	0.61865	D	0.682	0.68863	0.809	0.94519	D	0.834	0.94426	D	10	0.81032	0.80323	D	0.094851	0.76324	D	0.766	0.92087	0.684	0.82175	0.876408640116	0.87519	0.7382412097490221	0.73769	0.471083547616	0.46372	0.796892285347	0.81490	T	0.434891	0.78182	T	0.196943	0.73606	D	0.141973	0.79673	D	0.847471009517919	0.49948	D	0.847115	0.52772	T	0.588012	0.72043	0.5374809	0.73271	0.588012	0.72044	0.5374809	0.73272	-9.105	0.68369	D	0.4952354309885194	0.57139	0.217	0.44720	B	.	.	4.540023	0.71347	25.7	0.99676329086467086	0.78912	0.97739	0.76783	D	AEFDBI	0.870522	0.79152	D	0.671443339521415	0.77763	6.737482	0.700852329393532	0.82441	7.76826	0.999998477149855	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.01	6.01	0.97420	6.649000	0.74216	7.044000	0.57347	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.150	0.72369	819	0.41190	Transketolase-like, pyrimidine-binding domain|Transketolase-like, pyrimidine-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	696.98	38	chr10	12106381	.	A	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-2.074e+00;SOR=0.683	GT:AD:DP:GQ:PL	0/1:37,29:66:99:711,0,1003	20	0	1	0
chr10	12196292	12196292	C	T	exonic	CDC123	.	nonsynonymous SNV	CDC123:NM_006023:exon1:c.C47T:p.P16L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.838	P	0.000	D	1.000	D	3.31	M	.	.	0.268	D	0.525	D	0.711	5.200	33	4.58	2.537	5.579	16.672	0.461	0.0471228851979	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312610274	5.473e-06	5.472e-06	2.723e-06	8.251e-06	8.116e-05	2.35e-06	1.7e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.116e-05	6.574e-06	6.562e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.004	0.72154	D	0.007	0.69154	D	0.997	0.70673	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	.	.	.	-7.14	0.94073	D	0.646	0.76019	0.268	0.87042	D	0.525	0.82317	D	9	0.78678954	0.78315	D	0.047123	0.62778	D	0.461	0.75822	0.585	0.71245	0.653306318995	0.65041	0.6422974762128102	0.64164	1.18624796174	0.80151	0.648078918457	0.59713	T	0.422547	0.77359	T	0.172647	0.71366	D	0.107073	0.77379	D	0.998227655887604	0.93561	D	0.918208	0.78806	D	0.56514347	0.70793	0.69067085	0.81798	0.56514347	0.70794	0.69067085	0.81799	-10.018	0.74020	D	.	.	0.244	0.66432	B	.;.;.;.	.;.;.;.	5.684224	0.93019	33	0.99871370566642215	0.94902	0.65579	0.32785	D	ALL	0.792818	0.72100	D	0.793678820055033	0.85710	8.657586	0.716613646544012	0.83641	8.075182	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.58	4.58	0.56077	5.339000	0.65724	5.908000	0.50981	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.672	0.85128	702	0.57624	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1493.98	33	chr10	12196292	.	C	T	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.200e-01;DP=875;ExcessHet=0.0000;FS=1.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=0.458;SOR=0.606	GT:AD:DP:GQ:PL	0/1:92,69:161:99:1508,0,2206	20	0	1	0
chr10	16874404	16874404	G	A	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon58:c.C9206T:p.T3069I,	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	684147	CUBN-related_disorder|Imerslund-Grasbeck_syndrome	.|MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.32	T	0.002	B	0.004	B	0.156	N	1.000	N	1.345	L	2.21	T	-1.020	T	0.026	T	0.084	0.933	8.800	-0.514	-0.302	0.226	5.045	0.024	.	.	0.00459265	0.0018	9.61e-05	0.0029	0.0195	0	5.994e-05	0.0022	0.0004	0.0015718	243	154602	rs117400821	0.0007	0.0007	0.0007	0.0007	0.0169	0.0007	0.0006	0.0158	0.0154	5.974e-05	0.0028	0	0.0169	0	0	5.126e-05	0.0018	0.0006	0.0011	0.0011	0.0010	0.0013	0.0210	0.0010	0.0009	0.0178	0.0166	0.0002	0	0.0027	0	0.0210	0	0	4.41e-05	0.0014	0.0019	0.4	0.10482	T	0.002	0.79402	D	0.002	0.09854	B	0.004	0.10090	B	0.156381	0.03003	N	1.863120	1	0.08975	N	0.825	0.20901	L	2.21	0.18414	T	-3.0	0.62343	D	0.187	0.20395	-1.0200	0.23715	T	0.026	0.10998	T	10	0.0068894625	0.00156	T	.	.	.	0.024	0.04979	.	.	0.359357374593	0.35551	0.31744517675439465	0.31657	0.0927251273686	0.10471	0.37786090374	0.21953	T	0.153985	0.49507	T	-0.689529	0.00042	T	-0.742287	0.03794	T	0.00286088158303228	0.00030	T	0.354465	0.08000	T	0.058664713	0.11831	0.061197296	0.11779	0.058664713	0.11830	0.061197296	0.11779	-6.327	0.48936	T	0.16774184550962473	0.20933	0.108	0.20391	B	.	.	-0.396305	0.02226	0.225	0.8559871294566348	0.15993	0.04933	0.10690	N	AEFGI	0.048907	0.08396	N	-1.15998042118218	0.05618	0.2565699	-1.20122625603988	0.05891	0.2819764	0.0104907126452216	0.12033	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.23	-0.514	0.11361	0.286000	0.18660	0.458000	0.18589	-0.251000	0.07141	0.003000	0.16062	0.000000	0.08366	0.019000	0.11356	0.3383:0.0:0.5263:0.1353	5.045	0.13819	900	0.24599	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	0.02381	2267.98	40	chr10	16874404	.	G	A	2267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.820e-01;DP=831;ExcessHet=0.0000;FS=4.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.18;ReadPosRankSum=0.044;SOR=1.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,60:132:99:0|1:16874403_G_T:2282,0,2843:16874403	20	0	1	0
chr10	23119314	23119314	A	C	exonic	MSRB2	.	nonsynonymous SNV	MSRB2:NM_012228:exon4:c.A307C:p.K103Q,	.	.	428	1071	23	0	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	0.000	D	1.000	D	2.84	M	-1.87	D	0.634	D	0.760	D	0.583	2.779	15.25	4.43	1.061	5.728	11.905	0.806	.	0.0003	0.00379393	0.0035	0.0001	0.0005	0	0.0002	0.0009	0.0022	0.0213	0.002943	455	154602	rs199642000	0.0018	0.0018	0.0011	0.0024	0.0196	0.0017	0.0017	0.0188	0.0185	8.963e-05	0.0002	0.0065	0	0.0002	0.0064	0.0004	0.0025	0.0196	0.0010	0.0010	0.0009	0.0012	0.0197	0.0009	0.0008	0.0165	0.0153	7.223e-05	0	6.541e-05	0.0040	0.0004	9.425e-05	0.0034	0.0005	0.0009	0.0197	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999881	0.50402	D	2.7	0.79018	M	-1.87	0.84415	D	-3.97	0.73684	D	0.315	0.35514	0.634	0.92344	D	0.760	0.91826	D	10	0.013112485	0.00279	T	.	.	.	0.806	0.93699	.	.	0.896146396389	0.89511	0.8778569973366543	0.87752	0.763234276875	0.64374	0.52319341898	0.42076	T	0.833005	0.96032	D	-0.1771	0.24167	T	-0.0115733	0.69581	D	0.0688186085758067	0.08485	T	0.987201	0.95630	D	0.84709096	0.87121	0.6830389	0.81369	0.84709096	0.87123	0.6830389	0.81370	-6.855	0.52967	T	.	.	0.864	0.80540	P	.	.	3.902745	0.56863	23.8	0.99530507365991661	0.69839	0.90500	0.51728	D	AEFBI	0.749189	0.69070	D	0.672426743593757	0.77827	6.75008	0.594542299440287	0.74546	6.155727	0.749345502362472	0.23334	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	4.43	0.52967	6.001000	0.70352	8.991000	0.78510	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.8409:0.1591:0.0:0.0	11.905	0.51990	864	0.32732	Peptide methionine sulphoxide reductase MrsB|Peptide methionine sulphoxide reductase MrsB|Peptide methionine sulphoxide reductase MrsB	.	.	.	.	.	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	0.04762	3080.11	37	chr10	23119314	.	A	C	3080.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.660e-01;DP=1223;ExcessHet=0.1072;FS=0.997;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-2.750e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1657,0,1977	19	0	2	0
chr10	27240384	27240384	G	A	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001271512:exon1:c.C110T:p.T37M	.	.	420	1078	23	1	0	25	0.0114626	.	.	737443	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.927	D	0.005	N	1.000	D	0.895	L	2.4	T	-0.990	T	0.108	T	0.256	4.605	25.1	4.87	2.402	4.454	18.381	0.135	.	0.0007	0.00159744	0.0034	0.0003	0.0007	0.0002	0.0060	0.0024	0.0088	0.0114	0.002846	440	154602	rs41282238	0.0019	0.0019	0.0016	0.0023	0.0112	0.0019	0.0018	0.0106	0.0104	0.0002	0.0004	0.0061	7.557e-05	0.0058	0.0066	0.0010	0.0024	0.0112	0.0018	0.0018	0.0014	0.0023	0.0116	0.0016	0.0016	0.0092	0.0083	0.0002	0.0219	0.0002	0.0046	0.0002	0.0063	0.0068	0.0015	0.0029	0.0116	0.005	0.68238	D	0.016	0.60972	D	1.0	0.90584	D	0.927	0.66185	D	0.004502	0.33669	N	0.360028	0.994384	0.81001	D	0.805	0.20218	L	2.4	0.25509	T	-1.48	0.37566	N	0.312	0.35194	-0.9898	0.32652	T	0.108	0.39075	T	10	0.00437513	0.00089	T	.	.	.	0.135	0.36572	.	.	0.532311620844	0.52880	0.24715788570884184	0.24629	2.30488031714	0.96506	0.489432364702	0.37359	T	0.014439	0.15105	T	-0.460292	0.00979	T	-0.423566	0.30667	T	0.0278995960609738	0.01674	T	0.79912	0.73561	T	0.15304875	0.34711	0.31860933	0.57828	0.16137412	0.36141	0.24936178	0.50505	-6.309	0.49314	T	0.5477963200598464	0.61671	0.112	0.34361	B	.;.;.;.;.;.	.;.;.;.;.;.	3.974559	0.58384	24.0	0.99852887865356199	0.93191	0.88082	0.47856	D	AEFDGBHCI	0.672686	0.63900	D	0.492685321266477	0.66661	4.979143	0.506299029287174	0.68412	5.216603	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.87	4.87	0.62877	4.171000	0.58029	5.662000	0.49222	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.989000	0.64315	0.0:0.0:1.0:0.0	18.381	0.90395	693	0.58582	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3698.11	33	chr10	27240384	.	G	A	3698.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=1006;ExcessHet=0.1072;FS=5.119;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.97;SOR=0.962	GT:AD:DP:GQ:PL	0/1:86,62:148:99:1533,0,1980	19	0	2	0
chr10	27734734	27734734	T	A	exonic	MKX	.	nonsynonymous SNV	MKX:NM_001242702:exon5:c.A560T:p.H187L	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.717	P	0.272	B	0.000	D	1.000	D	1.905	M	-0.2	T	-0.747	T	0.222	T	0.525	3.473	17.78	5.56	2.122	5.727	15.765	0.222	0.0462206510342	.	0.00139776	0.0005	0	0	0	0	5.998e-05	0.0044	0.0030	0.000414	64	154602	rs558586786	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	1.872e-05	0.0007	7.284e-05	0.0002	0.0025	0.0001	0.0001	6.425e-05	0.0002	0.0031	7.087e-05	5.744e-05	0.0019	0.0016	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0031	0.02	0.50676	D	0.112	0.37037	T	0.717	0.42239	P	0.272	0.39956	B	0.000001	0.62929	D	0.098371	0.999987	0.54805	D	1.905	0.50856	L	-0.2	0.66113	T	-3.15	0.64132	D	0.626	0.64563	-0.7465	0.58118	T	0.222	0.58562	T	10	0.0069509745	0.00158	T	0.046221	0.62357	D	0.222	0.51872	.	.	0.147330786459	0.14319	0.3252863486936645	0.32441	0.627197894009	0.56825	0.461684018373	0.33542	T	0.364715	0.73025	T	-0.319214	0.06962	T	-0.234356	0.51349	T	0.0913249451064931	0.11374	T	0.794321	0.43637	T	0.3346315	0.55848	0.2288022	0.47933	0.3346315	0.55848	0.2288022	0.47932	-2.695	0.07261	T	.	.	0.101	0.19276	B	.;.;.	.;.;.	2.671331	0.34828	19.73	0.97496647695040994	0.34272	0.99044	0.90407	D	AEFBI	0.760804	0.69871	D	0.279751097130978	0.55123	3.676635	0.353318043373871	0.58707	4.042978	0.999501997450465	0.40062	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.56	5.56	0.83678	4.794000	0.62175	4.153000	0.42161	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.765	0.77890	804	0.43891	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1702.98	39	chr10	27734734	.	T	A	1702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=835;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=0.984;SOR=0.579	GT:AD:DP:GQ:PL	0/1:63,69:132:99:1717,0,1548	20	0	1	0
chr10	29533429	29533429	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.A938G:p.E313G,	.	.	425	1032	62	3	0	68	0.0318949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.922	D	0.000	D	1.000	D	2.215	M	0.83	T	-0.583	T	0.277	T	0.463	4.549	24.6	5.85	2.233	6.714	16.230	0.161	.	0.0021	0.00379393	0.0052	0.0006	0.0009	0.0002	0.0006	0.0030	0.0033	0.0248	0.0045795	708	154602	rs138539716	0.0035	0.0035	0.0027	0.0042	0.0249	0.0034	0.0034	0.0240	0.0237	0.0004	0.0008	0.0020	7.561e-05	0.0008	0.0168	0.0022	0.0037	0.0249	0.0023	0.0023	0.0020	0.0026	0.0261	0.0021	0.0020	0.0224	0.0210	0.0002	0	0.0018	0.0014	0	0.0002	0.0102	0.0026	0.0019	0.0261	0.0	0.91255	D	0.019	0.59159	D	0.999	0.77913	D	0.922	0.65739	D	0.000035	0.55875	D	0.120676	0.999815	0.81001	D	2.965	0.85198	M	0.83	0.47815	T	-2.76	0.58569	D	0.672	0.67995	-0.5825	0.65518	T	0.277	0.64845	T	9	0.006445855	0.00146	T	.	.	.	0.161	0.41658	.	.	0.29966067498	0.29572	0.32499134559339155	0.32412	0.941272911634	0.72213	0.544726490974	0.45114	T	0.114264	0.43194	T	-0.326568	0.06375	T	-0.222944	0.52452	T	0.0506692524194072	0.05618	T	0.909109	0.67839	D	0.4057002	0.61126	0.45622653	0.68392	0.38305208	0.59537	0.45176348	0.68105	-4.169	0.26519	T	.	.	0.523	0.65599	A	.;.	.;.	4.217554	0.63767	24.6	0.99928286144631806	0.99222	0.98525	0.83712	D	AEFBI	0.791987	0.72041	D	0.720763892831633	0.80992	7.419273	0.719964135676973	0.83897	8.143189	0.999999999870866	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.85	5.85	0.93663	7.074000	0.76478	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.230	0.82154	968	0.07033	.;.	.	.	.	.	.	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	0.07143	2167.68	42	chr10	29533429	.	T	C	2167.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.505;DP=907;ExcessHet=0.3300;FS=1.958;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=0.091;SOR=0.874	GT:AD:DP:GQ:PL	0/1:39,24:63:99:639,0,1030	18	0	3	0
chr10	38054909	38054909	T	C	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.T803C:p.L268P	.	.	10	1508	4	0	0	4	0.0013245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.937	D	0.682	N	1.000	N	2.43	M	3.16	T	-1.090	T	0.061	T	0.456	2.120	13.04	2.05	0.923	2.103	7.665	0.112	.	.	0.00419329	0.0025	0.0002	8.712e-05	0	0	0	0.0011	0.0181	0.0021086	326	154602	rs200374208	0.0011	0.0011	0.0006	0.0015	0.0170	0.0010	0.0010	0.0163	0.0160	5.975e-05	8.952e-05	0	5.042e-05	0	0.0010	8.094e-06	0.0010	0.0170	0.0006	0.0006	0.0004	0.0009	0.0184	0.0005	0.0005	0.0153	0.0142	9.616e-05	0	0.0001	0	0.0006	0	0	0	0	0.0184	0.001	0.78490	D	0.007	0.92824	D	0.979	0.59044	D	0.642	0.52168	P	0.682070	0.10250	N	0.788139	0.999999	0.08975	N	3.205	0.89189	M	3.37	0.07920	T	-1.73	0.69477	N	0.453	0.49055	-1.0903	0.05482	T	0.061	0.25419	T	10	0.006130904	0.00138	T	.	.	.	0.112	0.31546	0.794	0.91511	0.227260227426	0.22338	0.3306828452819045	0.32981	0.279574451876	0.30449	0.227622970939	0.01796	T	0.139751	0.47393	T	-0.435563	0.01373	T	-0.384152	0.35237	T	0.0909761367373596	0.11333	T	0.00836166	0.00058	T	0.4611066	0.64740	0.52216774	0.72393	0.4611066	0.64740	0.52216774	0.72394	-5.471	0.41596	T	.	.	0.123	0.39865	B	.;.;.;.;.	.;.;.;.;.	2.071918	0.26345	17.09	0.99547287434939269	0.70898	0.09794	0.15469	N	AEFGBI	0.127115	0.24435	N	-0.108261376014562	0.37032	2.148781	-0.358738528900337	0.26240	1.448064	0.51741964551593	0.21068	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.05	2.05	0.25860	1.787000	0.38336	-0.243000	0.10574	0.500000	0.22704	0.027000	0.20232	0.000000	0.08366	0.391000	0.26581	0.0:0.0:0.0:1.0	7.665	0.27593	675	0.60470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2511.98	39	chr10	38054909	.	T	C	2511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.765e+00;DP=1228;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.33;SOR=0.682	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2526,0,2769	20	0	1	0
chr10	38054930	38054930	C	T	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.C824T:p.P275L	.	.	9	1473	39	1	0	41	0.0137261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.001	B	0.225	N	1.000	N	0.345	N	3.45	T	-0.950	T	0.002	T	0.118	0.658	7.529	-0.393	0.182	1.534	1.999	0.048	.	0.0035	0.0217652	0.0133	0.0012	0.0035	0.0566	0.0002	0.0045	0.0188	0.0456	0.0122055	1887	154602	rs78340846	0.0086	0.0086	0.0074	0.0097	0.0524	0.0084	0.0084	0.0506	0.0498	0.0008	0.0023	0.0076	0.0524	0.0002	0.0092	0.0048	0.0097	0.0475	0.0065	0.0065	0.0056	0.0074	0.0542	0.0062	0.0060	0.0488	0.0467	0.0013	0.0033	0.0029	0.0055	0.0497	0	0.0034	0.0049	0.0076	0.0542	0.078	0.33923	T	0.081	0.83351	T	0.0	0.02946	B	0.001	0.04355	B	0.225023	0.16049	N	0.462111	1	0.08975	N	0.41	0.12415	N	3.44	0.05375	T	-1.52	0.36980	N	0.262	0.32148	-0.9496	0.41040	T	0.002	0.00526	T	10	0.0029008985	0.00046	T	.	.	.	0.048	0.13305	.	.	.	.	0.19901764050235302	0.19818	0.0329765575475	0.03447	0.223304584622	0.01509	T	0.025939	0.19295	T	-0.691823	0.00041	T	-0.725553	0.04532	T	0.0127520359431619	0.00216	T	0.0432957	0.00347	T	0.037352197	0.04771	0.033255894	0.02190	0.037352197	0.04770	0.033255894	0.02189	-3.84	0.21869	T	.	.	0.087	0.14108	B	.;.;.;.;.	.;.;.;.;.	0.555017	0.09238	6.018	0.66295141590691198	0.08017	0.09166	0.14976	N	AEFGBI	0.049285	0.08497	N	-1.22149415496001	0.04689	0.2121699	-1.29038804668229	0.04559	0.2153426	0.409632238020963	0.20201	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.05	-0.393	0.11819	0.505000	0.22352	-2.134000	0.04162	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2601:0.3828:0.0:0.3571	1.999	0.03252	675	0.60470	.;.;.;.;.	.	.	.	.	rs78340846	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	7999.68	39	chr10	38054930	.	C	T	7999.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.92;DP=1584;ExcessHet=0.3300;FS=0.522;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-4.960e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/1:108,117:225:99:3076,0,2627	18	0	3	0
chr10	42820245	42820245	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon16:c.G2590A:p.A864T,	.	.	434	1062	24	2	0	28	0.0130112	.	.	3221913	BMS1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	0.452	B	0.055	B	0.000	D	0.766	N	1.345	L	2.3	T	-1.111	T	0.000	T	0.268	1.588	11.27	5.05	2.352	3.884	13.840	0.080	.	.	0.0413339	0.0214	0.0005	0.0012	0.1068	0.0366	0.0036	0.0234	0.0699	0.0188031	2907	154602	rs117641896	0.0099	0.0099	0.0083	0.0115	0.1394	0.0097	0.0097	0.1363	0.1350	0.0002	0.0008	0.0041	0.1394	0.0317	0.0056	0.0008	0.0111	0.0644	0.0098	0.0099	0.0066	0.0132	0.1098	0.0094	0.0092	0.1023	0.0993	0.0003	0	0.0005	0.0032	0.1098	0.0323	0.0068	0.0021	0.0104	0.0806	0.153	0.24372	T	0.2	0.27591	T	0.452	0.36118	B	0.055	0.25995	B	0.000043	0.53742	D	0.122857	0.765727	0.29491	N	.	.	.	2.3	0.16953	T	-0.78	0.21644	N	0.234	0.26354	-1.1110	0.02985	T	0.000	0.00114	T	10	0.0021870434	0.00032	T	.	.	.	0.080	0.23350	.	.	.	.	0.3486463334772223	0.34778	0.245553725906	0.27076	0.558945655823	0.47119	T	0.006068	0.05507	T	-0.643963	0.00079	T	-0.553965	0.16947	T	0.0288878418279347	0.01820	T	0.750625	0.37241	T	0.059695754	0.12161	0.10918052	0.26309	0.059695754	0.12161	0.10918052	0.26308	-5.531	0.42157	T	.	.	0.094	0.14431	B	.	.	1.724231	0.21947	15.42	0.9888946252360642	0.47984	0.93020	0.57124	D	AEFBI	0.345743	0.44079	N	-0.0387931629623697	0.40105	2.37605	0.0539609993363731	0.42265	2.553303	0.400599700177465	0.20127	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.047000	0.57095	.	.	-0.803000	0.03144	0.979000	0.35152	1.000000	0.68203	0.053000	0.15439	0.0765:0.0:0.9235:0.0	13.840	0.62931	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	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	0.04762	1401.11	37	chr10	42820245	.	G	A	1401.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.44;DP=834;ExcessHet=0.1072;FS=4.689;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-1.126e+00;SOR=1.164	GT:AD:DP:GQ:PL	0/1:30,23:53:99:571,0,728	19	0	2	0
chr10	47367976	47367976	C	T	exonic	ZNF488	.	nonsynonymous SNV	ZNF488:NM_153034:exon2:c.G854A:p.R285H	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.933	P	0.885	P	0.000	N	1.000	D	2.35	M	1.66	T	-0.683	T	0.158	T	0.561	3.246	16.89	2.46	0.318	4.189	9.528	0.192	0.0970192712287	.	.	.	.	.	.	.	.	.	.	.	.	.	rs146643655	0.0004	0.0004	0.0004	0.0004	0.0009	0.0004	0.0004	0.0007	0.0006	2.987e-05	6.708e-05	0	0.0009	0.0034	0	0.0003	0.0006	0.0001	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0004	0.0005	0.0003	2.41e-05	0	0	0	0.0012	0.0043	0	0.0005	0.0009	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.58	0.53731	T	.	.	.	0.185	0.20129	.	.	.	.	.	.	.	0.07542437	0.11656	T	.	.	.	.	.	.	.	.	.	0.8655305168464783	0.86518	.	.	.	.	.	0.205159	0.56414	T	.	.	.	.	.	.	.	.	.	0.882612	0.60710	D	.	.	.	.	.	.	.	.	-7.095	0.54724	T	.	.	0.079	0.07412	B	.;.	.;.	1.776667	0.22594	15.68	.	.	.	.	.	.	0.588081	0.58549	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.912000	0.48479	-1.498000	0.05304	-0.171000	0.11205	1.000000	0.71638	0.000000	0.08366	0.874000	0.41677	.	.	.	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1300.98	39	chr10	47367976	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.726;DP=884;ExcessHet=0.0000;FS=3.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.03;ReadPosRankSum=-1.059e+00;SOR=0.841	GT:AD:DP:GQ:PL	0/1:91,53:144:99:1315,0,2431	20	0	1	0
chr10	47502771	47502771	T	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A1358T:p.K453I,	.	.	448	1070	4	0	0	4	0.00186567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412375757	0.0002	0.0008	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	3.047e-05	2.325e-05	0	0.0003	3.837e-05	0.0002	2.578e-05	0.0002	0.0028	0.0002	0.0011	0.0001	0.0003	0.0030	0.0001	0.0001	0.0018	0.0014	5.018e-05	0	0	0	0.0010	9.962e-05	0	0.0001	0	0.0030	0.014	0.53172	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.53	0.14038	T	-6.68	0.92391	D	0.238	0.26837	.	.	.	.	.	.	.	0.15134957	0.28609	T	.	.	.	.	.	.	.	.	.	0.05648739249400953	0.05589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.947805	0.79866	D	.	.	.	.	.	.	.	.	-10.462	0.76628	D	.	.	0.354	0.56851	A	.	.	2.279772	0.29148	18.03	.	.	.	.	.	.	0.235327	0.35795	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.916000	0.48511	2.302000	0.32024	0.161000	0.17719	1.000000	0.71638	0.994000	0.32194	0.009000	0.08673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	76.11	43	chr10	47502771	.	T	A	76.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.112;DP=2031;ExcessHet=0.1072;FS=2.133;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.33;MQRankSum=-4.421e+00;QD=0.48;ReadPosRankSum=-2.281e+00;SOR=0.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,11:109:54:0|1:47502771_T_A:54,0,4011:47502771	19	0	2	0
chr10	59327663	59327663	G	A	exonic	FAM13C	.	nonsynonymous SNV	FAM13C:NM_001347850:exon4:c.C10T:p.P4S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.181e-06	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	57.98	33	chr10	59327663	.	G	A	57.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.359e+00;DP=956;ExcessHet=0.0000;FS=40.084;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=-1.228e+00;SOR=5.419	GT:AD:DP:GQ:PL	0/1:44,14:58:72:72,0,858	20	0	1	0
chr10	71803310	71803310	G	C	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon8:c.G1042C:p.E348Q	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	YES	1	1454	63	4	0	71	0.0238335	.	.	55203	Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|not_specified|not_provided	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.006	B	0.181	N	0.992	N	-0.03	N	4.65	T	-0.936	T	0.003	T	0.017	-0.378	2.222	-2.58	-0.719	-0.017	16.621	0.072	.	0.0082	0.00658946	0.0144	0.0019	0.0051	0	0.0035	0.0149	0.0189	0.0287	0.00804	1243	154602	rs41281338	0.0100	0.0100	0.0095	0.0105	0.0237	0.0098	0.0098	0.0229	0.0225	0.0013	0.0036	0.0056	5.236e-05	0.0042	0.0186	0.0101	0.0093	0.0237	0.0073	0.0073	0.0072	0.0073	0.0207	0.0069	0.0068	0.0174	0.0162	0.0016	0	0.0061	0.0075	0.0002	0.0032	0.0068	0.0113	0.0066	0.0207	0.58	0.05992	T	0.172	0.30241	T	0.0	0.02946	B	0.005	0.11217	B	0.181411	0.17092	N	0.552256	0.999999	0.08975	N	0.845	0.21182	L	4.65	0.01779	T	-0.05	0.07736	N	0.143	0.17966	-0.9365	0.43164	T	0.003	0.00864	T	10	0.0042585135	0.00085	T	.	.	.	0.072	0.21020	.	.	0.332386209738	0.32853	0.2250098621263309	0.22415	0.141875730321	0.15990	0.290573954582	0.09005	T	0.008282	0.42434	T	-0.757954	0.00016	T	-0.843271	0.01051	T	0.000131290159326566	0.00001	T	0.714629	0.32694	T	0.09665936	0.22772	0.09581675	0.22741	0.07366605	0.16476	0.11269583	0.27192	-1.765	0.02407	T	.	.	0.057	0.00806	B	.;.;.;.	.;.;.;.	0.254778	0.06335	2.799	0.48566796264938689	0.04064	0.01605	0.05203	N	AEFDGBI	0.068685	0.13561	N	-1.37053670912072	0.02918	0.129567	-1.36125860524623	0.03675	0.1719123	0.998552506792226	0.37186	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	-2.58	0.05866	-0.003000	0.12836	0.772000	0.21405	-0.191000	0.09375	0.002000	0.15269	0.207000	0.23614	0.627000	0.32078	0.1008:0.2334:0.6658:0.0	16.621	0.84784	807	0.43470	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;.	MICU1	Testis	PSAP|PSAP|PSAP|PSAP	Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	4190.11	34	chr10	71803310	.	G	C	4190.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.634;DP=1125;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.393;SOR=0.691	GT:AD:DP:GQ:PL	0/1:75,88:163:99:2456,0,1918	19	0	2	0
chr10	77806906	77806906	C	T	exonic	DLG5	.	nonsynonymous SNV	DLG5:NM_004747:exon26:c.G4819A:p.D1607N,	.	.	1	1512	9	0	0	9	0.00296736	.	.	737608	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.776	P	0.583	P	0.027	N	0.999	D	0.11	N	2.33	T	-1.096	T	0.032	T	0.032	2.875	15.58	5.87	2.941	7.304	20.583	0.137	0.00273368010323	0.0033	0.00179712	0.0036	0.0012	0.0058	0.0001	0.0015	0.0049	0.0066	0.0006	0.0038551	596	154602	rs147733899	0.0046	0.0046	0.0047	0.0044	0.0054	0.0045	0.0044	0.0053	0.0052	0.0007	0.0050	0.0007	0	0.0013	0.0023	0.0054	0.0042	0.0007	0.0037	0.0037	0.0040	0.0034	0.0060	0.0034	0.0033	0.0053	0.0051	0.0010	0	0.0060	0	0.0002	0.0010	0.0034	0.0058	0.0071	0.0008	0.153	0.27904	T	0.006	0.70582	D	0.017	0.17573	B	0.011	0.15521	B	0.027112	0.25810	N	0.188315	0.999244	0.46434	D	0.625	0.15840	N	2.33	0.16492	T	-1.24	0.31375	N	0.16	0.16725	-1.0956	0.04667	T	0.032	0.13854	T	10	0.006292641	0.00142	T	0.002734	0.05637	T	0.137	0.36984	.	.	0.360112713275	0.35619	0.21524451862564084	0.21440	0.254785759849	0.28058	0.341420531273	0.16651	T	0.233795	0.60067	T	-0.623353	0.00105	T	-0.663052	0.08062	T	0.0333715757926284	0.02533	T	.	.	.	0.08449357	0.19560	0.06918168	0.14545	0.08449357	0.19560	0.06918168	0.14544	-10.408	0.76317	D	.	.	0.111	0.23918	B	.;.	.;.	4.048842	0.59999	24.2	0.9937609004066652	0.61671	0.98810	0.87149	D	AEFBI	0.892686	0.82986	D	0.102176441142892	0.46565	2.894866	0.234646820442223	0.51780	3.357682	0.99999999999971	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.361000	0.78756	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:1.0:0.0:0.0	20.583	0.99411	669	0.61081	SH3 domain|SH3 domain|Disks large homologue 5, SH3 domain;SH3 domain|SH3 domain|Disks large homologue 5, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	643.98	39	chr10	77806906	.	C	T	643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.863;DP=805;ExcessHet=0.0000;FS=2.117;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-2.880e-01;SOR=1.023	GT:AD:DP:GQ:PL	0/1:39,26:65:99:658,0,1004	20	0	1	0
chr10	77982179	77982179	C	T	exonic	POLR3A	.	nonsynonymous SNV	POLR3A:NM_007055:exon28:c.G3734A:p.R1245Q,	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	316580	Leukoencephalopathy-ataxia-hypodontia-hypomyelination_syndrome|not_provided|POLR3A-related_disorder	MONDO:MONDO:0011897,MedGen:C2676243,OMIM:607694,Orphanet:137639,Orphanet:447893,Orphanet:447896,Orphanet:77295,Orphanet:88637|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.045	B	0.02	B	0.006	N	0.982	N	1.885	L	-1.12	T	-0.788	T	0.309	T	0.187	2.190	13.28	0.392	0.148	0.624	10.260	0.133	0.0440044966476	0.0018	0.000998403	0.0018	0.0007	0.0002	0.0009	0.0009	0.0028	0.0011	0.0002	0.001824	282	154602	rs143422889	0.0024	0.0024	0.0024	0.0023	0.0029	0.0023	0.0023	0.0028	0.0027	0.0007	0.0003	0.0008	0.0003	0.0011	0.0014	0.0029	0.0019	0.0002	0.0018	0.0018	0.0020	0.0016	0.0031	0.0016	0.0016	0.0028	0.0027	0.0008	0	0.0009	0.0003	0.0006	0.0009	0	0.0031	0.0010	0.0002	0.16	0.23721	T	0.302	0.28391	T	0.045	0.21781	B	0.02	0.19048	B	0.006403	0.32054	N	0.318671	0.982382	0.24968	N	2.355	0.67662	M	-1.12	0.77593	T	-1.37	0.33998	N	0.267	0.30233	-0.7879	0.55851	T	0.309	0.67940	T	9	0.009936869	0.00223	T	0.044004	0.61272	D	0.133	0.36157	.	.	0.743430985935	0.74112	0.7382162153214712	0.73766	0.400142401929	0.41017	0.341661810875	0.16686	T	0.346686	0.71491	T	-0.422504	0.01649	T	-0.375949	0.36194	T	0.00702428965499727	0.00080	T	0.930207	0.74183	D	0.054966275	0.10618	0.059580483	0.11206	0.043630097	0.06834	0.055580568	0.09775	-8.653	0.65438	D	0.08980600547865497	0.05528	0.069	0.03407	B	.;.	.;.	2.623157	0.34091	19.53	0.98530844866433165	0.42595	0.14091	0.18218	N	AEFDBI	0.055137	0.10085	N	-0.745854919764048	0.14745	0.7371897	-0.72767007597596	0.16273	0.8600793	0.998254746098757	0.36648	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.98	0.392	0.15512	0.647000	0.24500	0.074000	0.14299	-0.189000	0.09497	0.142000	0.23535	0.002000	0.18203	0.985000	0.61073	0.0:0.5214:0.0:0.4786	10.260	0.42602	871	0.31377	RNA polymerase Rpb1, domain 5;RNA polymerase Rpb1, domain 5|DNA-directed RNA polymerase III subunit RPC1, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1101.98	40	chr10	77982179	.	C	T	1101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.464;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=0.349;SOR=0.660	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1116,0,1107	20	0	1	0
chr10	84150750	84150750	C	T	exonic	GHITM	.	nonsynonymous SNV	GHITM:NM_014394:exon8:c.C823T:p.L275F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.985	D	0.913	D	0.000	D	1.000	D	2.435	M	0.73	T	-0.632	T	0.259	T	0.911	4.392	23.2	3.32	0.472	1.374	11.049	0.340	0.0132283052883	8.4e-05	0.000399361	0.0001	0.0003	8.738e-05	0.0001	0	6.03e-05	0	0.0002	9.7e-05	15	154602	rs200385037	0.0001	0.0001	9.409e-05	0.0001	0.0014	8.793e-05	8.279e-05	0.0007	0.0005	0.0005	8.948e-05	0.0003	2.52e-05	0	0.0014	5.855e-05	0.0003	0.0003	8.537e-05	8.531e-05	5.14e-05	0.0001	0.0002	4.954e-05	3.96e-05	7.873e-05	5.576e-05	0.0002	0	6.539e-05	0.0006	0	0	0	4.411e-05	0	0	0.02	0.49613	D	0.036	0.52060	D	0.985	0.61118	D	0.913	0.64886	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	0.73	0.50721	T	-3.76	0.71276	D	0.865	0.86191	-0.6322	0.63477	T	0.259	0.62955	T	10	0.5526901	0.64344	D	0.013228	0.32470	T	0.340	0.66202	.	.	0.52360052443	0.52005	0.8661029374360146	0.86575	0.255209668601	0.28107	0.55671620369	0.46804	T	0.180642	0.53205	T	0.0190673	0.54256	T	0.0858047	0.75966	D	0.538936138153076	0.34064	D	0.949755	0.80719	D	0.39128363	0.60123	0.38441113	0.63382	0.39128363	0.60124	0.38441113	0.63382	-8.38	0.63632	D	.	.	0.232	0.46528	B	.	.	3.402828	0.47165	22.4	0.99891376883464356	0.96513	0.94843	0.62522	D	AEFGBI	0.775994	0.70924	D	0.419244647312199	0.62481	4.464689	0.360704443026662	0.59155	4.091041	0.599476558136331	0.21713	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	3.32	0.37134	1.415000	0.34355	2.168000	0.31032	0.599000	0.40250	0.915000	0.31815	0.991000	0.31484	0.990000	0.65344	0.0:0.7946:0.0:0.2054	11.049	0.47095	881	0.29269	Growth hormone-inducible transmembrane protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	788.98	33	chr10	84150750	.	C	T	788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.356e+00;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=0.345;SOR=0.751	GT:AD:DP:GQ:PL	0/1:47,36:83:99:803,0,1229	20	0	1	0
chr10	89705424	89705424	G	T	exonic	KIF20B	.	nonsynonymous SNV	KIF20B:NM_001284259:exon2:c.G130T:p.V44F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.788	P	0.312	B	0.026	N	0.826	N	1.935	M	2.27	T	-0.590	T	0.238	T	0.46	3.002	16.01	4.66	1.342	3.113	8.735	0.142	0.0570049604823	0.0002	.	0.0001	0	0	0	0	0.0002	0	6.063e-05	0.00011	17	154602	rs368331856	5.679e-05	5.678e-05	5.582e-05	5.776e-05	9.278e-05	4.677e-05	4.302e-05	5.074e-05	4.653e-05	0	0	0	0	0	0	6.296e-05	8.282e-05	9.278e-05	5.916e-05	5.911e-05	8.995e-05	2.691e-05	0.0001	3.078e-05	2.211e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	0.003	0.68238	D	0.007	0.69154	D	0.1	0.44546	B	0.032	0.41466	B	0.026000	0.25994	N	0.182483	0.825657	0.28826	N	2.38	0.68558	M	-0.32	0.68181	T	-2.39	0.53577	N	0.416	0.45615	-0.5898	0.65229	T	0.238	0.60547	T	10	0.17826456	0.32902	T	0.057005	0.66810	D	0.142	0.37995	.	.	0.561714622075	0.55833	0.4979234381712088	0.49713	0.11961603398	0.13471	0.513583898544	0.40724	T	0.138222	0.47159	T	-0.179765	0.23772	T	-0.205854	0.54091	T	0.178388290792796	0.19133	T	0.754725	0.39533	T	0.19960526	0.41905	0.17684796	0.40248	0.19960526	0.41905	0.17684796	0.40247	-3.68	0.19348	T	.	.	0.131	0.28116	B	.;.;.	.;.;.	3.625932	0.51336	23.1	0.99211976836166438	0.55624	0.87483	0.47037	D	AEFDGBI	0.345631	0.44071	N	0.174552639875458	0.49979	3.19254	0.262737875958467	0.53377	3.507012	0.999997452484698	0.74766	0.706298	0.61202	0	0.581341	0.33841	0	0.709663	0.75317	0	0.631177	0.49321	0	.	.	5.57	4.66	0.57857	3.334000	0.51814	7.479000	0.59237	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1722:0.0:0.8278:0.0	8.735	0.33684	473	0.77910	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	887.98	37	chr10	89705424	.	G	T	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.326e+00;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.79;ReadPosRankSum=1.07;SOR=0.740	GT:AD:DP:GQ:PL	0/1:58,43:101:99:902,0,1469	20	0	1	0
chr10	95037276	95037276	C	T	exonic	CYP2C8	.	nonsynonymous SNV	CYP2C8:NM_001198854:exon8:c.G1019A:p.R340H	Rhabdomyolysis, cerivastatin-induced (3)	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.675	P	0.000	U	1.000	D	3.23	M	-0.49	T	-0.193	T	0.429	T	0.537	2.983	15.95	1.97	0.946	2.963	6.163	0.506	0.0205863676681	7.7e-05	.	1.687e-05	0	0	0	0	3.07e-05	0	0	1.29e-05	2	154602	rs138495387	7.254e-05	7.251e-05	7.081e-05	7.429e-05	0.0004	6.116e-05	5.702e-05	6.873e-05	6.37e-05	2.988e-05	0	0	2.52e-05	0	0.0004	8.275e-05	0.0001	2.32e-05	5.259e-05	5.254e-05	8.997e-05	1.346e-05	0.0001	2.558e-05	1.831e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.013	0.53900	D	0.015	0.61642	D	0.994	0.66517	D	0.675	0.53279	P	0.000001	0.62929	U	0.000000	0.682358	0.33246	D	3.76	0.95097	H	-0.49	0.70365	T	-4.09	0.74900	D	0.417	0.45709	-0.1928	0.77857	T	0.429	0.77160	T	10	0.6035336	0.67046	D	0.020586	0.43215	T	0.506	0.78724	.	.	0.801223087649	0.79936	0.21162112535075858	0.21078	0.0808308102781	0.09095	0.328026235104	0.14636	T	0.305722	0.67796	T	-0.0864423	0.38660	T	-0.176041	0.56888	T	0.97418200969696	0.70403	D	0.705629	0.31596	T	0.49424413	0.66755	0.3376259	0.59551	0.49424413	0.66756	0.3376259	0.59550	-9.195	0.68943	D	.	.	0.381	0.58475	A	.;.;.;.	.;.;.;.	3.363430	0.46445	22.3	0.99892627087801411	0.96666	0.45044	0.27451	N	AEFI	0.628884	0.61080	D	0.181044580007076	0.50290	3.220379	-0.0026737251584911	0.39596	2.350063	6.55972864254984E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.9	1.97	0.25278	2.166000	0.42032	.	.	0.546000	0.25710	0.023000	0.19925	0.000000	0.08366	0.111000	0.18785	0.19:0.7028:0.0:0.1072	6.163	0.19592	777	0.48198	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	482.98	35	chr10	95037276	.	C	T	482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.94;ReadPosRankSum=-1.347e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/1:32,22:54:99:497,0,721	20	0	1	0
chr10	96346077	96346077	C	T	exonic	OPALIN	.	nonsynonymous SNV	OPALIN:NM_001040102:exon4:c.G221A:p.G74E	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.004	N	1.000	N	0.695	N	.	.	-1.083	T	0.111	T	0.714	2.575	14.57	3.21	2.293	0.284	7.062	0.170	0.00285067268833	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs768526962	6.157e-06	6.156e-06	2.723e-06	9.626e-06	0.0002	2.9e-06	2.1e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	4.637e-05	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.379	0.92824	T	1.0	0.90584	D	1.0	0.97372	D	0.004289	0.33902	N	0.135493	0.999588	0.20930	N	2.015	0.55033	M	.	.	.	-7.97	0.96368	D	0.207	0.22998	-1.0828	0.06814	T	0.111	0.39794	T	9	0.17220396	0.31981	T	0.002851	0.05986	T	0.170	0.43303	0.274	0.22528	0.315314060047	0.31143	0.1555191978824115	0.15472	0.815431667459	0.66915	0.419260084629	0.27735	T	0.111861	0.46315	T	-0.0459251	0.45063	T	-0.0670761	0.65835	T	0.983429908752441	0.75096	D	0.889911	0.62289	D	0.4570392	0.64486	0.40112537	0.64630	0.4570392	0.64487	0.40112537	0.64630	-2.436	0.05870	T	.	.	0.166	0.46711	B	.;.;.;.;.;.	.;.;.;.;.;.	2.139689	0.27245	17.40	0.99654588619513318	0.77505	0.05740	0.11667	N	AEFBCI	0.047725	0.08067	N	0.059747502598312	0.44592	2.730434	-0.030739523027959	0.38334	2.25699	0.961845630581036	0.28581	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.530356	0.10902	0	.	.	4.12	3.21	0.35933	0.321000	0.19306	0.721000	0.21012	0.599000	0.40250	0.004000	0.16614	0.002000	0.18203	0.740000	0.35438	0.0:0.8796:0.0:0.1204	7.062	0.24312	451	0.79296	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1413.98	36	chr10	96346077	.	C	T	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=1.29;SOR=0.763	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1428,0,1025	20	0	1	0
chr10	100262030	100262030	A	T	exonic	CWF19L1	.	nonsynonymous SNV	CWF19L1:NM_001303404:exon2:c.T57A:p.D19E	Spinocerebellar ataxia, autosomal recessive 17, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.009	B	0.01	B	0.000	D	1.000	D	1.025	L	0.79	T	-0.965	T	0.088	T	0.393	1.884	12.26	4.21	0.988	1.054	9.579	0.095	0.00755826692429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.84e-07	0	1.378e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.23541	T	0.923	0.02845	T	0.009	0.15093	B	0.01	0.14941	B	0.000001	0.62929	D	0.132637	0.614733	0.32652	D	0.655	0.16177	N	0.79	0.49068	T	-0.92	0.24676	N	0.134	0.13055	-0.9652	0.38171	T	0.088	0.33996	T	10	0.11702058	0.22089	T	0.007558	0.20060	T	0.095	0.27398	0.365	0.37199	0.39709148275	0.39321	0.41548039992075597	0.41464	0.16294634426	0.18388	0.441092729568	0.30726	T	0.001319	0.00791	T	-0.105726	0.35476	T	-0.389644	0.34592	T	0.427888810634613	0.29983	T	0.749125	0.63821	T	0.07289441	0.16251	0.0658091	0.13390	0.07289441	0.16251	0.0658091	0.13390	-4.611	0.32310	T	0.16472802918739968	0.20374	0.115	0.37746	B	.;.	.;.	1.906644	0.24218	16.31	0.9802549915983203	0.37666	0.77996	0.38418	D	AEFBI	0.119611	0.23337	N	-0.322208961251749	0.28307	1.560205	-0.149071402604602	0.33445	1.913147	0.982561747148737	0.30419	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.34	4.21	0.48984	1.163000	0.31408	4.147000	0.42125	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.994000	0.71098	0.9161:0.0:0.0839:0.0	9.579	0.38641	852	0.35056	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	826.98	36	chr10	100262030	.	A	T	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=763;ExcessHet=0.0000;FS=2.328;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=-1.286e+00;SOR=0.412	GT:AD:DP:GQ:PL	0/1:22,32:54:99:841,0,481	20	0	1	0
chr10	102141009	102141009	C	G	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.C2501G:p.P834R	.	.	399	1117	5	1	0	7	0.00312361	.	.	3221579	PPRC1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.773	P	0.414	B	0.079	N	1.000	N	0.695	N	1.87	T	-1.083	T	0.043	T	0.057	1.797	11.97	3.42	1.376	0.938	6.604	0.053	0.0148166190639	0.0028	0.000599042	0.0019	0.0007	0.0022	0	0.0015	0.0028	0	0.0002	0.0020116	311	154602	rs17855877	0.0026	0.0026	0.0027	0.0026	0.0113	0.0025	0.0025	0.0091	0.0083	0.0006	0.0019	0.0062	2.519e-05	0.0012	0.0113	0.0029	0.0023	0.0002	0.0022	0.0022	0.0021	0.0023	0.0031	0.0020	0.0019	0.0027	0.0026	0.0007	0.0099	0.0023	0.0046	0	0.0008	0.0102	0.0031	0.0076	0	0.049	0.44694	D	0.049	0.54934	D	0.664	0.41009	P	0.235	0.38432	B	0.078939	0.21014	N	0.450508	0.999304	0.22085	N	1.65	0.42232	L	1.86	0.24285	T	-0.81	0.28703	N	0.185	0.20129	-1.0825	0.06871	T	0.043	0.18618	T	10	0.0033678412	0.00059	T	0.014817	0.35183	T	0.053	0.14996	.	.	0.0675242888579	0.06100	0.2838525284156345	0.28298	0.367992495841	0.38357	0.309089779854	0.11770	T	0.020168	0.47274	T	-0.61838	0.00112	T	-0.664715	0.07952	T	0.0101927539642157	0.00138	T	0.865913	0.56597	D	0.030375214	0.02690	0.041050766	0.04577	0.030375214	0.02690	0.041050766	0.04576	-5.298	0.39923	T	.	.	0.133	0.28693	B	.;.	.;.	3.303862	0.45360	22.1	0.99433683924610039	0.64374	0.62357	0.31757	D	AEFDBHCI	0.127373	0.24470	N	-0.440887174127313	0.24050	1.295878	-0.432299040330095	0.24056	1.315171	0.964473585916462	0.28763	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.31	3.42	0.38259	1.129000	0.30994	1.450000	0.26598	-0.202000	0.08738	0.061000	0.21800	0.029000	0.21193	0.069000	0.16583	0.1383:0.6509:0.0:0.2108	6.604	0.21912	666	0.61362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2724.98	35	chr10	102141009	.	C	G	2724.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.987e+00;DP=1000;ExcessHet=0.0000;FS=5.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.593e+00;SOR=0.460	GT:AD:DP:GQ:PL	0/1:125,114:239:99:2739,0,3639	20	0	1	0
chr10	109882610	109882610	G	A	exonic	XPNPEP1	.	nonsynonymous SNV	XPNPEP1:NM_001324128:exon8:c.C521T:p.P174L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.887	P	0.368	B	0.000	D	1.000	D	1.38	L	.	.	-0.785	T	0.186	T	0.891	4.170	21.6	5.82	2.757	8.864	18.286	0.324	0.00321764229603	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263223063	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.56456	D	0.054	0.50514	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-2.48	0.65171	N	0.732	0.73285	-0.7851	0.56013	T	0.186	0.53586	T	9	0.51857364	0.62509	D	0.003218	0.07087	T	0.324	0.64624	0.443	0.49975	0.34333109794	0.33943	0.7635627406815334	0.76304	0.777115608898	0.65093	0.489170014858	0.37323	T	.	.	.	0.431523	0.91608	D	0.382076	0.91504	D	0.800749003887177	0.46403	D	0.931307	0.75239	D	.	.	.	.	.	.	.	.	-7.469	0.57392	T	.	.	0.099	0.23041	B	.;.;.;.;.	.;.;.;.;.	4.345271	0.66695	25.0	0.99718813116236893	0.81914	0.99378	0.95249	D	AEFGBI	0.936065	0.93184	D	0.529336838154282	0.68833	5.271889	0.637841081704558	0.77708	6.731655	0.999999999999998	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	8.985000	0.93048	10.005000	0.83063	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.286	0.90055	963	0.08280	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	640.98	36	chr10	109882610	.	G	A	640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.840e-01;DP=769;ExcessHet=0.0000;FS=2.318;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-3.980e-01;SOR=0.392	GT:AD:DP:GQ:PL	0/1:35,27:62:99:655,0,951	20	0	1	0
chr10	111078579	111078579	G	A	exonic	ADRA2A	.	nonsynonymous SNV	ADRA2A:NM_000681:exon1:c.G583A:p.G195S,	.	.	5	1515	2	0	0	2	0.000659631	.	.	2293441	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.256	B	0.027	B	0.001	U	0.640	N	0.475	N	-0.54	T	-0.800	T	0.167	T	0.242	1.156	9.707	3.23	1.753	2.111	3.185	0.128	0.0530444861304	0.0005	0.000599042	0.0005	0.0002	0.0008	0	0	0.0006	0	0.0004	0.000304	47	154602	rs200592713	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0009	0.0007	3.02e-05	0.0005	0.0029	0	0	0.0017	0.0002	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0001	0.0001	4.837e-05	0	0.0003	0.0058	0	0	0	0.0002	0.0005	0	0.168	0.23007	T	0.33	0.18560	T	.	.	.	.	.	.	0.000657	0.00658	U	8.875730	0.639799	0.30626	N	.	.	.	-0.54	0.70950	T	-0.22	0.10480	N	0.278	0.31478	-0.7996	0.55168	T	0.167	0.50665	T	10	0.0074337423	0.00169	T	0.053044	0.65312	D	0.128	0.35103	.	.	0.503248607038	0.49961	0.3638278386033659	0.36296	.	.	0.393243849277	0.24126	T	.	.	.	-0.338622	0.05484	T	-0.381453	0.35553	T	0.0132221806109515	0.00235	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.	.	2.527875	0.32681	19.11	0.98920777385372372	0.48546	0.68476	0.33817	D	AEFDBCI	0.298170	0.40756	N	-0.402614749898728	0.25378	1.377141	-0.304528045493231	0.27952	1.554802	0.996788786307982	0.35006	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.23	3.23	0.36150	2.146000	0.41840	5.346000	0.48359	0.590000	0.31872	0.981000	0.35396	1.000000	0.68203	0.191000	0.21631	0.227:0.0:0.5451:0.2278	3.185	0.06203	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1953.98	33	chr10	111078579	.	G	A	1953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.474;DP=876;ExcessHet=0.0000;FS=1.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.082;SOR=0.564	GT:AD:DP:GQ:PL	0/1:93,76:169:99:1968,0,2431	20	0	1	0
chr10	114255010	114255010	A	T	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon4:c.A223T:p.I75F	.	.	431	1083	8	0	0	8	0.00367985	.	.	723782	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.947	P	0.439	B	0.877	N	0.743	D	2.36	M	-1.74	D	-0.558	T	0.106	T	0.337	3.995	20.5	-0.389	-0.071	-0.575	5.075	0.450	.	0.0003	0.013778	0.0096	0.0005	0.0368	0.0548	0.0160	0.0020	0.0078	0.0007	0.0086545	1338	154602	rs75028145	0.0033	0.0033	0.0035	0.0030	0.0483	0.0032	0.0032	0.0465	0.0458	0.0007	0.0295	0.0024	0.0483	0.0168	0.0004	0.0002	0.0040	0.0011	0.0054	0.0054	0.0046	0.0062	0.0540	0.0051	0.0049	0.0488	0.0468	0.0006	0	0.0177	0.0032	0.0540	0.0157	0	0.0006	0.0066	0.0019	0.223	0.18757	T	0.08	0.41913	T	0.947	0.53479	P	0.439	0.45685	B	0.877040	0.07211	N	1.055100	0.742667	0.33840	D	2.235	0.63160	M	-1.74	0.83413	D	-1.44	0.35399	N	0.41	0.45047	-0.5583	0.66469	T	0.106	0.38783	T	10	0.0033477843	0.00058	T	.	.	.	0.450	0.75074	.	.	.	.	0.42154765605563477	0.42070	.	.	0.27176630497	0.06373	T	0.088432	0.38156	T	-0.384518	0.02916	T	-0.278774	0.46930	T	0.0372307897526938	0.03197	T	0.738826	0.35731	T	0.21362944	0.43746	0.22648315	0.47628	0.21362944	0.43746	0.22648315	0.47627	-9.468	0.70660	D	0.2175417729178618	0.29281	0.210	0.43801	B	.	.	1.360791	0.17698	13.32	0.9854396474447461	0.42757	0.11892	0.16928	N	AEFGI	0.082789	0.16767	N	-0.293594131032781	0.29394	1.629702	-0.373127945094249	0.25801	1.421153	0.662758766936296	0.22289	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	-0.389	0.11835	-0.504000	0.06456	-0.203000	0.10926	-0.078000	0.16268	0.045000	0.21207	0.000000	0.08366	0.990000	0.65344	0.5149:0.2686:0.2165:0.0	5.075	0.13963	911	0.21964	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2788.98	37	chr10	114255010	.	A	T	2788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=871;ExcessHet=0.0000;FS=0.568;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.21;ReadPosRankSum=-3.870e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:70,102:172:99:2803,0,1604	20	0	1	0
chr10	119902934	119902934	G	A	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon3:c.G832A:p.E278K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.673	P	0.165	B	0.000	D	0.980	D	2.19	M	1.46	T	-0.593	T	0.271	T	0.489	2.667	14.88	4.35	1.350	3.679	9.824	0.152	0.0213962699172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.661	0.04928	T	0.648	0.06788	T	0.439	0.35873	B	0.165	0.35019	B	0.000020	0.62929	D	0.155985	0.980208	0.39642	D	1.295	0.32453	L	1.39	0.44856	T	-1.07	0.28290	N	0.304	0.47395	-0.5929	0.65105	T	0.271	0.64245	T	10	0.1990219	0.35895	T	0.021396	0.44162	T	0.152	0.39956	0.559	0.67821	0.33110744837	0.32714	0.4621577481362075	0.46133	0.140664995966	0.15865	0.511516749859	0.40435	T	0.238581	0.60651	T	-0.100745	0.36302	T	-0.38249	0.35432	T	0.702032446861267	0.40816	D	0.862614	0.67748	D	0.10228448	0.24167	0.116941646	0.28230	0.10228448	0.24167	0.116941646	0.28229	-11.012	0.79724	D	.	.	0.103	0.43935	B	.;.;.	.;.;.	3.507656	0.49109	22.7	0.99689748740179673	0.79842	0.93777	0.59161	D	AEFBI	0.315967	0.42039	N	0.140566920596529	0.48364	3.049758	0.182775690773369	0.48902	3.10018	0.123718413685636	0.16942	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	4.35	0.51454	3.816000	0.55363	9.707000	0.81321	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0738:0.1393:0.7869:0.0	9.824	0.40067	730	0.54327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1060.98	33	chr10	119902934	.	G	A	1060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.881;DP=792;ExcessHet=0.0000;FS=0.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.300e-01;SOR=0.706	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1075,0,982	20	0	1	0
chr10	122088726	122088726	G	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291877:exon5:c.G5708A:p.R1903H,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	.	.	3.84	T	-0.912	T	0.006	T	0.021	1.976	12.56	-8.21	-1.777	-0.816	8.146	0.011	0.00128890229891	.	0.000599042	0.0008	0	0	0	0	0	0	0.0015	0.0001035	16	154602	rs531213162	9.782e-05	9.919e-05	5.821e-05	0.0001	0.0013	8.438e-05	7.905e-05	0.0011	0.0010	0	0	0	0	2.48e-05	0	2.595e-05	8.628e-05	0.0013	8.537e-05	8.53e-05	7.71e-05	9.401e-05	0.0023	4.954e-05	3.96e-05	0.0013	0.0010	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0023	0.0	0.91255	D	0.145	0.33000	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.84	0.03675	T	-0.01	0.07155	N	0.077	0.05162	-0.9121	0.46594	T	0.006	0.02093	T	7	0.0048184693	0.00102	T	0.001289	0.01784	T	0.011	0.01250	0.325	0.30711	0.226586394389	0.22295	.	.	.	.	.	.	.	0.005032	0.04462	T	-0.704246	0.00034	T	-0.82491	0.01356	T	0.0280771751089587	0.01699	T	0.381662	0.09243	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.008547	0.04343	1.107	0.92286682758010596	0.21674	0.00048	0.00378	N	AEFGBI	0.018268	0.00541	N	-1.41753573710437	0.02484	0.1097844	-1.56727413386837	0.01859	0.08475982	0.999999996985526	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.1	-8.21	0.00914	-0.706000	0.05149	.	.	-0.079000	0.16264	0.000000	0.06391	0.000000	0.08366	0.129000	0.19529	0.198:0.3704:0.4316:0.0	8.146	0.30271	944	0.12746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	866.98	33	chr10	122088726	.	G	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.400e-02;DP=761;ExcessHet=0.0000;FS=3.634;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.721;SOR=0.342	GT:AD:DP:GQ:PL	0/1:38,33:71:99:881,0,1035	20	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:71,36:117:56:56,0,1167	4	0	15	2
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:28,0,9,0:37:99:.:.:140,223,839,0,616,589,223,839,616,839	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:28,0,9,0:37:99:.:.:140,223,839,0,616,589,223,839,616,839	0	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,37:120:99:0|1:124989533_G_A:1263,0,3279:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:103,28:131:99:630,0,3456	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:115,18:133:99:138,0,3137	2	0	13	6
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V	.	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.194	B	0.09	B	0.000	D	0.999	D	0.55	N	-1.7	D	-0.359	T	0.375	T	0.715	2.521	14.39	5.12	2.665	5.242	16.928	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2443.96	41	chr10	124989594	.	G	A	2443.96	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.716e+00;DP=2367;ExcessHet=2.5830;FS=12.019;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.211;MQ=55.23;MQRankSum=-7.172e+00;QD=2.31;ReadPosRankSum=-2.830e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,13:146:38:.:.:38,0,5455	12	0	7	2
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,18:143:99:0|1:124994489_T_G:380,0,5195:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,18:149:99:0|1:124994489_T_G:362,0,5426:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,18:148:99:0|1:124994489_T_G:365,0,5384:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,25:152:99:0|1:124994523_G_A:636,0,5082:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:125,28:153:99:368,0,3762	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:130,33:163:99:413,0,3654	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,34:158:99:0|1:124994577_C_A:1025,0,4987:124994577	0	0	21	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S	.	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.972	D	0.000	D	1.000	D	0.21	N	-1.24	T	0.015	D	0.436	T	0.965	4.582	24.9	4.73	2.329	7.484	18.072	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2613.45	155	chr10	124998077	.	C	G	2613.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.989e+00;DP=3731;ExcessHet=4.7172;FS=12.784;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.708e+00;QD=1.59;ReadPosRankSum=1.79;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,17:173:99:0|1:124998077_C_G:244,0,6369:124998077	2	0	9	10
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R	.	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.17	N	-1.31	T	0.036	D	0.482	T	0.76	4.180	21.6	4.73	2.329	9.471	18.072	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2556.39	158	chr10	124998080	.	G	C	2556.39	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-9.380e-01;DP=3732;ExcessHet=4.7172;FS=9.991;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.738e+00;QD=1.54;ReadPosRankSum=2.17;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,17:173:99:0|1:124998077_C_G:244,0,6418:124998077	2	0	9	10
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G	.	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.834	P	0.000	D	1.000	D	0.605	N	-1.44	T	-0.139	T	0.443	T	0.98	3.339	17.24	0.468	-0.119	-0.061	17.140	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4091	2505.45	158	chr10	124998087	.	T	C	2505.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.870e+00;DP=3764;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.73;MQRankSum=-8.711e+00;QD=1.49;ReadPosRankSum=3.13;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,17:172:99:0|1:124998077_C_G:247,0,6457:124998077	2	0	9	10
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W	.	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.345	M	-2.1	D	0.927	D	0.842	D	0.994	4.577	24.9	4.73	2.329	2.969	18.072	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2454.45	160	chr10	124998090	.	G	A	2454.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-6.220e-01;DP=3768;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.75;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=3.67;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,17:176:99:0|1:124998077_C_G:235,0,6594:124998077	2	0	9	10
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G	.	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.792	P	0.742	P	0.000	D	1.000	D	-2.125	N	-1.16	T	-0.313	T	0.196	T	0.932	4.200	21.8	4.73	1.888	8.957	14.522	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2457.45	157	chr10	124998111	.	A	C	2457.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.854e+00;DP=3819;ExcessHet=4.7172;FS=10.323;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=4.32;SOR=1.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,17:176:99:0|1:124998111_A_C:235,0,6585:124998111	2	0	9	10
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T	.	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.071	B	0.56	P	0.006	N	0.988	D	2.42	M	0.83	T	-0.464	T	0.283	T	0.768	3.273	16.99	4.73	1.888	7.155	14.522	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2409.45	160	chr10	124998113	.	A	G	2409.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.285e+00;DP=3825;ExcessHet=4.7172;FS=8.581;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.41;ReadPosRankSum=4.07;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,17:176:99:0|1:124998111_A_C:235,0,6585:124998111	2	0	9	10
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X	.	.	432	1023	67	0	0	67	0.0317085	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.130	37	5.28	2.217	5.606	13.948	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039033	.	T	A	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.532e+00;DP=2371;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.76;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.141;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,10:132:53:0|1:125039033_T_A:53,0,5059:125039033	9	0	12	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R	.	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	.	.	1.000	N	1.61	L	-1.53	D	-0.716	T	0.384	T	0.78	2.124	13.06	5.28	2.217	5.606	13.948	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039035	.	T	C	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.484e+00;DP=2344;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.74;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.412;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,10:132:53:0|1:125039033_T_A:53,0,5059:125039033	9	0	12	0
chr10	133533792	133533792	G	A	exonic	CYP2E1	.	nonsynonymous SNV	CYP2E1:NM_000773:exon6:c.G862A:p.G288S,	.	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.976	D	0.765	P	0.007	N	1.000	N	-0.375	N	-0.27	T	-0.930	T	0.158	T	0.2	1.405	10.63	1.35	0.242	2.780	6.674	0.168	.	.	0.00379393	0.0028	0	0.0003	0.0001	0	1.499e-05	0.0055	0.0202	0.0024385	377	154602	rs61710826	0.0013	0.0013	0.0008	0.0018	0.0203	0.0012	0.0012	0.0195	0.0192	0	0	0	7.557e-05	0	0.0003	2.968e-05	0.0018	0.0203	0.0007	0.0007	0.0003	0.0011	0.0207	0.0006	0.0005	0.0174	0.0162	0	0	0	0	0	0	0	1.47e-05	0.0009	0.0207	0.105	0.30375	T	0.062	0.45318	T	0.945	0.53279	P	0.613	0.51171	P	0.006757	0.31824	N	0.386253	1	0.08975	N	-0.175	0.04276	N	-0.27	0.67367	T	1.05	0.01488	N	0.054	0.02559	-0.9304	0.44080	T	0.158	0.49027	T	10	0.0065504014	0.00148	T	.	.	.	0.168	0.42943	0.608	0.74063	0.641048165634	0.63808	0.1800232113540086	0.17921	0.369890665842	0.38515	0.394802570343	0.24343	T	0.03004	0.21388	T	-0.506787	0.00523	T	-0.485145	0.23901	T	0.0342855437364483	0.02686	T	0.694731	0.30434	T	0.0960666	0.22621	0.056927457	0.10258	0.0960666	0.22621	0.056927457	0.10257	-1.309	0.01416	T	.	.	0.117	0.23848	B	.;.;.;.	.;.;.;.	0.785912	0.11562	8.156	0.83700415288107233	0.14871	0.00089	0.00592	N	AEFDBI	0.283815	0.39683	N	-0.711938346470966	0.15686	0.7926656	-0.835004165390488	0.13647	0.7091577	0.0191091762678123	0.13129	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.96	1.35	0.21078	0.584000	0.23565	4.429000	0.43344	-0.279000	0.06446	0.000000	0.06391	0.467000	0.25033	0.001000	0.02609	0.7393:0.0:0.2607:0.0	6.674	0.22275	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	0.02381	2303.98	35	chr10	133533792	.	G	A	2303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.580;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-7.880e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/1:73,93:166:99:2318,0,1613	20	0	1	0
chr11	551669	551669	C	G	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C815G:p.P272R,	.	.	412	1107	3	0	0	3	0.00135318	.	.	1609504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.58	T	0.007	B	0.004	B	0.716	N	1.000	N	0.695	N	3.13	T	-0.912	T	0.013	T	0.155	0.577	7.114	2.04	0.443	1.034	4.870	0.026	.	.	0.00119808	0.0014	0	0	0	0	0	0	0.0136	0.0011643	180	154602	rs574089705	0.0006	0.0006	0.0003	0.0008	0.0092	0.0005	0.0005	0.0087	0.0085	3.108e-05	0	0	7.61e-05	0	0	4.553e-06	0.0005	0.0092	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	0	0.0005	0.0081	0.465	0.08609	T	0.582	0.08448	T	0.007	0.14184	B	0.004	0.10090	B	0.716045	0.09974	N	0.851925	1	0.08975	N	1.87	0.49600	L	3.13	0.08014	T	-1.48	0.36189	N	0.244	0.27554	-0.9123	0.46569	T	0.013	0.05321	T	10	0.003862083	0.00073	T	.	.	.	0.026	0.05648	0.265	0.21103	0.20549828249	0.20151	0.20999173655305994	0.20915	.	.	0.281745791435	0.07736	T	0.00315	0.02556	T	-0.611946	0.00123	T	-0.64426	0.09362	T	0.0165734877761071	0.00419	T	0.40156	0.10241	T	0.026547948	0.01727	0.047060702	0.06697	0.026547948	0.01727	0.047060702	0.06697	-3.25	0.13101	T	0.5386982818291418	0.60863	0.092	0.13456	B	.	.	1.386539	0.17989	13.48	0.69228681150674276	0.08906	0.27037	0.23164	N	AEFGBCI	0.044808	0.07256	N	-1.00058267258298	0.08591	0.4034374	-1.01233025913681	0.09514	0.4737509	0.999995920745873	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.96	2.04	0.25787	0.731000	0.25726	-0.164000	0.11293	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2095:0.6776:0.0:0.1129	4.870	0.12988	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1033.98	35	chr11	551669	.	C	G	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.99;ReadPosRankSum=-1.390e-01;SOR=0.760	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,30:69:99:0|1:551644_C_T:1048,0,1526:551644	20	0	1	0
chr11	824777	824777	C	T	exonic	PNPLA2	.	nonsynonymous SNV	PNPLA2:NM_020376:exon10:c.C1430T:p.P477L,	Neutral lipid storage disease with myopathy, Autosomal recessive	.	3	1502	14	0	3	17	0.00463883	.	.	254356	not_specified|Neutral_lipid_storage_myopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	0.024	N	1.000	N	1.32	L	1.29	T	-1.006	T	0.090	T	0.048	0.602	7.244	2.26	0.408	1.636	6.546	0.085	0.0223711410916	.	0.000599042	0.0044	0	0	0	0	0.0017	0.0061	0.0085	0.0007956	123	154602	rs142588621	0.0006	0.0006	0.0004	0.0008	0.0065	0.0006	0.0006	0.0061	0.0059	9.426e-05	0.0002	0.0016	2.763e-05	0	0.0028	0.0002	0.0009	0.0065	0.0004	0.0004	0.0002	0.0005	0.0043	0.0003	0.0003	0.0029	0.0024	7.217e-05	0	0.0001	0.0032	0.0002	0	0.0034	0.0002	0.0005	0.0043	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.024485	0.01612	N	2.198490	1	0.08975	N	0.69	0.16971	N	1.29	0.35775	T	-1.43	0.35194	N	0.057	0.02861	-1.0064	0.28034	T	0.090	0.34491	T	10	0.005427867	0.00120	T	0.022371	0.45252	T	0.085	0.24743	0.113	0.02240	0.227934060464	0.22382	0.24573239084740695	0.24487	0.226915953546	0.25236	0.652659654617	0.60363	T	0.282407	0.65515	T	-0.627288	0.00099	T	-0.671082	0.07539	T	0.0291134502509285	0.01854	T	0.517048	0.16713	T	0.029542774	0.02466	0.050078835	0.07785	0.040267084	0.05716	0.054464377	0.09372	-3.901	0.22318	T	.	.	0.088	0.11654	B	.	.	1.057497	0.14390	10.97	0.91807305475386769	0.21114	0.11034	0.16362	N	AEFDBCI	0.077363	0.15585	N	-0.807526944842923	0.13117	0.6440008	-0.852982367295794	0.13216	0.6843807	0.996066604794161	0.34501	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.14	2.26	0.27418	0.180000	0.16672	0.325000	0.17225	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.7948:0.0:0.2052	6.546	0.21603	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2205.98	37	chr11	824777	.	C	T	2205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.126e+00;DP=960;ExcessHet=0.0000;FS=4.471;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.59;ReadPosRankSum=-8.340e-01;SOR=0.395	GT:AD:DP:GQ:PL	0/1:48,85:133:99:2220,0,1180	20	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/2:388,0,70:458:99:1701,2879,19195,0,16290,16079	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:356,100,187,0:643:99:.:.:6525,3482,19083,0,9648,12943,7663,18429,13760,22324	0	0	4	1
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:492,129,39,0:660:99:.:.:3939,0,20269,3781,19025,24321,5418,20658,24439,26075	0	0	13	0
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:497,164,0:661:99:0|1:1017440_C_T:5390,0,20375,6886,20869,27755:1017440	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:606,59,0:665:99:.:.:648,0,25156,2472,25333,27805	3	0	10	4
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:502,151,0:653:99:0|1:1017440_C_T:4829,0,20624,6340,21079,27419:1017440	0	0	15	1
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	8917.62	568	chr11	1017485	.	G	A,*	8917.62	.	AC=9,3;AF=0.300,0.100;AN=30;BaseQRankSum=3.65;DP=13357;ExcessHet=9.6308;FS=1.662;InbreedingCoeff=-0.5548;MLEAC=11,4;MLEAF=0.367,0.133;MQ=55.50;MQRankSum=-1.127e+01;QD=1.11;ReadPosRankSum=8.04;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:558,63,0:652:99:.:.:966,0,23241,2645,23430,26076	3	0	9	6
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	22503.92	584	chr11	1017495	.	ATGC	A,*	22503.92	.	AC=10,3;AF=0.313,0.094;AN=32;BaseQRankSum=3.43;DP=13485;ExcessHet=11.8493;FS=2.630;InbreedingCoeff=-0.5849;MLEAC=12,4;MLEAF=0.375,0.125;MQ=55.70;MQRankSum=-1.139e+01;QD=2.46;ReadPosRankSum=8.78;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:572,96,0:668:99:.:.:2276,0,23574,3998,23863,27861	3	0	10	5
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21074.63	572	chr11	1017498	.	C	G,T,*	21074.63	.	AC=7,4,7;AF=0.194,0.111,0.194;AN=36;BaseQRankSum=-3.970e-01;DP=13422;ExcessHet=30.0624;FS=1.184;InbreedingCoeff=-0.8667;MLEAC=8,4,8;MLEAF=0.222,0.111,0.222;MQ=56.34;MQRankSum=-1.681e+01;QD=1.81;ReadPosRankSum=3.85;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:362,150,47,95:654:99:.:.:4858,0,14277,4048,12805,19452,2033,10841,15610,17322	0	0	7	3
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:398,273,0:671:99:.:.:10036,0,15081,11233,15902,27135	0	0	15	2
chr11	1017522	1017522	T	0	exonic	MUC6	.	.	.	.	.	346	931	79	2	164	247	0.0426735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4405.44	578	chr11	1017522	.	T	G,*	4405.44	.	AC=3,3;AF=0.100,0.100;AN=30;BaseQRankSum=1.48;DP=13418;ExcessHet=1.7912;FS=0.769;InbreedingCoeff=-0.2727;MLEAC=4,4;MLEAF=0.133,0.133;MQ=56.24;MQRankSum=-6.364e+00;QD=1.00;ReadPosRankSum=3.23;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:569,108,0:677:99:.:.:2308,0,23143,4021,23467,27489	9	0	3	6
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,36,0:196:99:0|1:1018169_C_G:1030,0,6610,1512,6718,8230:1018169	5	0	15	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,21,0:242:99:0|1:1018256_T_G:217,0,9217,882,9280,10162:1018256	6	0	10	0
chr11	1082921	1082921	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	411	1107	4	0	0	4	0.00180343	.	.	3185156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.236	B	0.262	B	0.578	N	0.996	N	2.22	M	0.3	T	-0.897	T	0.176	T	0.224	0.754	7.992	1.61	0.736	0.273	9.525	0.181	0.0317529260588	0.0043	0.000998403	0.0040	0.0016	0.0009	0	0.0023	0.0064	0.0023	0.0012	0.0036804	569	154602	rs41442048	0.0046	0.0046	0.0046	0.0045	0.0055	0.0045	0.0044	0.0054	0.0053	0.0007	0.0006	0.0015	0	0.0021	0	0.0055	0.0045	0.0015	0.0032	0.0032	0.0033	0.0030	0.0055	0.0029	0.0028	0.0051	0.0049	0.0008	0.0164	0.0010	0.0017	0	0.0023	0	0.0055	0.0028	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2847.11	34	chr11	1082921	.	C	G	2847.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.020e-01;DP=890;ExcessHet=0.1072;FS=0.556;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.476;SOR=0.786	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1356,0,1055	19	0	2	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,155,0:155:99:1|1:1095948_C_G:6756,466,0,6756,466,6756:1095948	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,172,0,0:172:99:1|1:1095948_C_G:7155,517,0,7155,517,7155,7155,517,7155,7155:1095948	0	19	0	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	16587.35	478	chr11	1096086	.	G	C,*	16587.35	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-3.100e-01;DP=7824;ExcessHet=0.0338;FS=4.192;InbreedingCoeff=0.3842;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.40;MQRankSum=3.42;QD=7.73;ReadPosRankSum=-7.470e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:28,114,36:178:99:.:.:6035,895,1032,3580,0,4976	13	0	4	0
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	13067.43	463	chr11	1096123	.	C	*,T	13067.43	.	AC=2,6;AF=0.050,0.150;AN=40;BaseQRankSum=0.051;DP=8687;ExcessHet=0.0303;FS=1.783;InbreedingCoeff=0.3363;MLEAC=2,6;MLEAF=0.050,0.150;MQ=56.41;MQRankSum=2.66;QD=7.92;ReadPosRankSum=0.268;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:102,36,87:225:99:.:.:1988,1033,6274,0,1898,3119	14	0	0	1
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:87,80,62:229:99:2875,0,5622,1068,1087,6942	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,80,0:229:99:.:.:2875,0,5622,3539,4874,9341	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,80,0:229:99:.:.:2875,0,5622,3539,4874,9341	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,80,0:229:99:.:.:2875,0,5622,3539,4874,9341	2	0	10	5
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,62,80:229:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:2989,1126,5854,0,1073,3767:1096074	0	1	1	6
chr11	1096374	1096374	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	573	938	11	0	0	11	0.00582936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486501087	0.0007	0.0036	0.0006	0.0008	0.0011	0.0007	0.0006	0.0008	0.0008	0.0001	0.0004	0.0005	0.0001	0.0024	0.0011	0.0007	0.0009	0.0010	0.0008	0.0014	0.0006	0.0009	0.0013	0.0006	0.0006	0.0009	0.0008	0.0002	0	0.0009	0.0003	0	0.0011	0	0.0011	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1213.98	285	chr11	1096374	.	C	T	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.573e+00;DP=5612;ExcessHet=0.0000;FS=5.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.52;MQRankSum=-2.721e+00;QD=3.53;ReadPosRankSum=-2.292e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,83:344:99:0|1:1096305_T_C:1228,0,9595:1096305	20	0	1	0
chr11	1096650	1096650	C	0	exonic	MUC2	.	.	.	.	.	8	102	82	32	2	148	0.417143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15758.34	106	chr11	1096650	.	C	T,*	15758.34	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=3.24;DP=2340;ExcessHet=0.0097;FS=1.183;InbreedingCoeff=0.4232;MLEAC=9,1;MLEAF=0.225,0.025;MQ=53.80;MQRankSum=-1.435e+00;QD=20.23;ReadPosRankSum=0.795;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,58,0:58:99:1|1:1096650_C_T:2394,174,0,2394,174,2394:1096650	13	3	3	1
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43,0:43:99:1|1:1096650_C_T:1923,129,0,1923,129,1923:1096650	0	19	0	0
chr11	1096897	1096897	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	3680.93	78	chr11	1096897	.	A	G,*	3680.93	.	AC=18,1;AF=0.600,0.033;AN=30;BaseQRankSum=1.84;DP=894;ExcessHet=0.0009;FS=56.653;InbreedingCoeff=0.4463;MLEAC=23,1;MLEAF=0.767,0.033;MQ=39.56;MQRankSum=-1.082e+00;QD=11.29;ReadPosRankSum=-7.730e-01;SOR=2.505	GT:AD:DP:GQ:PL	1/1:0,15,0:15:43:432,43,0,453,52,595	4	8	2	6
chr11	1097338	1097338	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	667	849	4	0	2	6	0.00235018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0.0024	0.0008	0	0.0001	.	.	.	.	6.399e-05	0.0005	5.415e-05	7.259e-05	9.64e-05	4.754e-05	4.162e-05	7.093e-05	6.186e-05	0	3.122e-05	0	0	0	0	9.64e-05	3.176e-05	1.586e-05	0	6.398e-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	0	0	0	0	0	0	0	0	0	0	0	0.02381	69.98	88	chr11	1097338	.	C	A	69.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.069e+00;DP=2493;ExcessHet=0.0000;FS=1.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=30.01;MQRankSum=2.71;QD=1.27;ReadPosRankSum=-2.686e+00;SOR=0.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,6:55:84:0|1:1097335_C_T:84,0,1946:1097335	20	0	1	0
chr11	1097377	1097377	T	0	exonic	MUC2	.	.	.	.	.	706	772	41	0	3	44	0.0258675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1225.14	90	chr11	1097377	.	T	C,*	1225.14	.	AC=6,1;AF=0.273,0.045;AN=22;BaseQRankSum=2.86;DP=2345;ExcessHet=2.5830;FS=30.158;InbreedingCoeff=-0.4001;MLEAC=9,2;MLEAF=0.409,0.091;MQ=29.98;MQRankSum=-1.032e+00;QD=2.03;ReadPosRankSum=-2.380e-01;SOR=2.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,13,0:55:99:.:.:190,0,1072,316,1111,1426	4	0	6	10
chr11	1097397	1097397	C	0	exonic	MUC2	.	.	.	.	.	683	731	102	3	3	111	0.0687898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2445.2	75	chr11	1097397	.	C	T,*	2445.2	.	AC=3,1;AF=0.083,0.028;AN=36;BaseQRankSum=-2.256e+00;DP=2418;ExcessHet=0.6776;FS=16.908;InbreedingCoeff=-0.1507;MLEAC=3,1;MLEAF=0.083,0.028;MQ=32.67;MQRankSum=2.33;QD=6.75;ReadPosRankSum=-1.210e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/1:24,38,0:62:99:817,0,689,889,803,1692	14	0	3	3
chr11	1097399	1097399	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	41.06	75	chr11	1097399	.	C	*,T	41.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.12;DP=2414;ExcessHet=0.1072;FS=0.607;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=33.63;MQRankSum=1.39;QD=0.19;ReadPosRankSum=4.07;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:58,0,6:64:55:0|1:1097380_G_A:55,229,2619,0,2390,2372:1097380	19	0	1	0
chr11	1097399	1097399	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.0	B	.	.	1.000	N	.	.	2.56	T	-0.938	T	0.012	T	0.223	-0.077	3.622	-2.88	-0.314	0.230	3.424	0.013	.	.	.	0.0090	0.0016	0.0106	0	0.0099	0.0141	0.0057	0.0072	.	.	.	rs1431346206	0.0021	0.0071	0.0023	0.0019	0.0028	0.0020	0.0019	0.0026	0.0025	0.0004	0.0007	0.0017	0	0.0024	0.0013	0.0028	0.0023	0.0009	0.0065	0.0098	0.0071	0.0058	0.0124	0.0060	0.0058	0.0114	0.0109	0.0013	0.0034	0.0043	0.0084	0	0.0024	0	0.0124	0.0061	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	41.06	75	chr11	1097399	.	C	*,T	41.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.12;DP=2414;ExcessHet=0.1072;FS=0.607;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=33.63;MQRankSum=1.39;QD=0.19;ReadPosRankSum=4.07;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:58,0,6:64:55:0|1:1097380_G_A:55,229,2619,0,2390,2372:1097380	19	0	1	0
chr11	1098538	1098538	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	674	844	4	0	0	4	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169334096	0.0032	0.0055	0.0033	0.0031	0.0031	0.0031	0.0030	0.0030	0.0029	0.0010	0.0019	0.0052	0.0011	0.0223	0.0025	0.0031	0.0044	0.0012	0.0150	0.0054	0.0122	0.0179	0.0232	0.0120	0.0110	0.0178	0.0159	0.0027	0	0.0049	0.0104	0.0053	0.0249	0.1000	0.0232	0.0323	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2083	2025.55	120	chr11	1098538	.	T	C	2025.55	.	AC=5;AF=0.208;AN=24;BaseQRankSum=2.06;DP=3920;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.2947;MLEAC=7;MLEAF=0.292;MQ=45.13;MQRankSum=-5.024e+00;QD=2.34;ReadPosRankSum=-1.951e+00;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,36:178:99:1|0:1098460_C_A:768,0,4131:1098460	7	0	5	9
chr11	1098795	1098795	G	0	exonic	MUC2	.	.	.	.	.	679	640	201	0	2	203	0.135719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	9572.22	147	chr11	1098795	.	G	A,*	9572.22	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=2.22;DP=3836;ExcessHet=3.7745;FS=1.215;InbreedingCoeff=-0.2250;MLEAC=8,1;MLEAF=0.222,0.028;MQ=35.69;MQRankSum=-3.090e-01;QD=4.86;ReadPosRankSum=0.919;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:219,122,0:341:99:.:.:2273,0,6237,2916,6600,9516	10	0	7	3
chr11	1098946	1098948	CAA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	771	750	1	0	0	1	0.000666223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410964135	0.0009	0.0025	0.0007	0.0011	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0004	0.0009	0	0.0028	0	0.0010	0.0009	0.0003	0.0007	0.0011	0.0006	0.0008	0.0017	0.0006	0.0005	0.0006	0.0006	0	0	0.0004	0.0006	0	0.0019	0	0.0009	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	589.78	54	chr11	1098945	.	CCAA	C	589.78	.	AC=2;AF=0.050;AN=40;BaseQRankSum=0.234;DP=1469;ExcessHet=0.1128;FS=3.202;InbreedingCoeff=0.1624;MLEAC=2;MLEAF=0.050;MQ=30.84;MQRankSum=0.711;QD=3.91;ReadPosRankSum=-1.172e+00;SOR=0.391	GT:AD:DP:GQ:PL	0/1:74,16:90:99:437,0,2976	18	0	2	1
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,163,0,0:163:99:1|1:1099366_T_C:7074,490,0,7074,490,7074,7074,490,7074,7074:1099366	3	2	3	8
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,161,0:161:99:1|1:1099366_T_C:6996,484,0,6996,484,6996:1099366	0	15	0	0
chr11	1099661	1099661	-	CTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	exonic	MUC2	.	unknown	UNKNOWN,	.	.	445	603	462	1	11	475	0.277844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	.	0.0006	0.0013	0.0006	0.0007	0.0032	0.0006	0.0006	0.0026	0.0024	0.0014	0.0005	0.0010	0.0032	0.0007	0.0006	0.0004	0.0010	0.0012	0.0015	0.0019	0.0012	0.0018	0.0019	0.0013	0.0012	0.0015	0.0013	0.0019	0	0.0011	0.0026	0.0006	0.0010	0	0.0015	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	23720.71	427	chr11	1099661	.	A	C,ACTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	23720.71	.	AC=4,2;AF=0.143,0.071;AN=28;BaseQRankSum=0.167;DP=7139;ExcessHet=1.7912;FS=4.643;InbreedingCoeff=-0.2923;MLEAC=5,3;MLEAF=0.179,0.107;MQ=58.74;MQRankSum=-9.005e+00;QD=9.92;ReadPosRankSum=1.55;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,49,0:345:99:0|1:1099604_C_A:1122,0,12253,2013,12400,14413:1099604	8	0	4	7
chr11	1099675	1099675	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.001	B	0.001	B	0.122	U	1.000	N	.	.	3.3	T	-0.927	T	0.011	T	0.196	1.725	11.73	1.82	1.003	0.484	9.196	0.035	0.0193395279859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.583e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	859.09	394	chr11	1099675	.	C	A	859.09	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.933e+00;DP=6591;ExcessHet=0.0000;FS=7.020;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=59.44;MQRankSum=-1.275e+01;QD=2.33;ReadPosRankSum=2.20;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:324,44:368:99:0|1:1099604_C_A:872,0,13472:1099604	17	0	1	3
chr11	1189439	1189439	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C11294T:p.T3765M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264212665	0.0001	0.0001	9.535e-05	0.0002	0.0007	9.637e-05	8.724e-05	0.0005	0.0004	0	5.926e-05	0	0.0007	0	0	7.873e-06	0.0003	0.0005	7.257e-05	7.23e-05	9.028e-05	5.403e-05	0.0012	3.987e-05	3.139e-05	0.0005	0.0003	2.424e-05	0	0	0	0.0012	0	0	2.946e-05	0	0.0004	.	.	.	0.111	0.37173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.12055	.	.	.	.	.	.	.	0.046437293	0.03834	T	.	.	.	.	.	.	.	.	.	0.1508126989759556	0.15003	.	.	.	.	.	0.093644	0.39254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.385	0.70141	D	.	.	0.171	0.37577	B	.	.	0.102566	0.05038	1.585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.676000	0.00912	-4.244000	0.02260	-2.328000	0.00314	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	9478.98	274	chr11	1189439	.	C	T	9478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.964;DP=7658;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.06;SOR=0.712	GT:AD:DP:GQ:PL	0/1:387,378:765:99:9493,0,9509	20	0	1	0
chr11	1242824	1242824	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C5944G:p.P1982A,	.	.	405	1100	17	0	0	17	0.00766802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	-0.255	N	2.38	T	-0.998	T	0.021	T	0.041	-0.566	1.447	-4.39	-2.074	-3.476	5.956	0.007	0.00204751639038	.	.	0.0004	0.0010	0.0002	0.0007	0.0005	0.0003	0	0.0004	3.84e-05	1	26028	rs2943508	0.0003	0.0017	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0005	0.0030	0.0002	0.0008	0.0005	0.0001	0.0007	0.0003	0.0010	0.0026	0.0010	0.0009	0.0025	0.0008	0.0008	0.0021	0.0019	0.0025	0	0.0007	0.0020	0.0004	0.0005	0	0.0002	0.0010	0.0004	0.451	0.08969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.31	0.00704	N	2.2	0.18570	T	-0.36	0.13035	N	0.035	0.01004	-0.9975	0.30618	T	0.021	0.08732	T	9	0.011864901	0.00257	T	0.002048	0.03748	T	0.007	0.00512	.	.	0.043077524339	0.03247	0.1337540641421184	0.13299	.	.	0.186318874359	0.00167	T	0.021853	0.16945	T	-0.731628	0.00023	T	-0.864242	0.00798	T	0.00157244652876611	0.00016	T	0.393961	0.09832	T	0.016689507	0.00215	0.03362263	0.02287	0.016689507	0.00215	0.03362263	0.02286	1.354	0.00095	T	.	.	0.048	0.00082	B	.	.	-1.101744	0.00638	0.017	0.5472258365673961	0.05195	0.00061	0.00447	N	AEFI	0.022417	0.01117	N	-1.81075945752716	0.00519	0.02235286	-1.90839802135919	0.00471	0.02086687	0.00724884832373696	0.11420	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.2	-4.39	0.03360	-4.721000	0.00225	-5.355000	0.01750	-1.493000	0.01042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.101:0.5607:0.2191:0.1191	5.956	0.18508	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	627.11	84	chr11	1242824	.	C	G	627.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.203e+00;DP=3187;ExcessHet=0.1072;FS=2.691;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.35;MQRankSum=-1.119e+01;QD=0.62;ReadPosRankSum=1.22;SOR=0.459	GT:AD:DP:GQ:PL	0/1:370,52:422:60:60,0,10590	19	0	2	0
chr11	1244763	1244763	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G7883T:p.R2628L,	.	.	422	1088	12	0	0	12	0.00548446	.	.	2393987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.039	B	0.016	B	.	.	1.000	N	0.69	N	2.19	T	-1.039	T	0.031	T	0.11	-0.428	2.008	-3.52	-2.557	-2.538	7.567	0.017	0.000668629977859	.	.	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002846	44	154602	rs201153963	7.285e-05	0.0017	7.796e-05	6.769e-05	0.0002	6.142e-05	5.726e-05	6.437e-05	5.935e-05	8.985e-05	4.497e-05	0	0	0	0.0002	7.767e-05	0.0001	5.809e-05	0.0002	0.0064	0.0002	0.0002	0.0002	0.0001	9.879e-05	0.0001	0.0001	0.0002	0	6.582e-05	0.0003	0	0	0	0.0002	0	0	0.271	0.15984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	2.01	0.21291	T	-0.48	0.15379	N	0.086	0.06322	-1.0386	0.17740	T	0.031	0.13155	T	9	0.056725234	0.06404	T	6.69E-4	0.00383	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.2921260695239488	0.29125	.	.	0.186647862196	0.00171	T	0.022851	0.17544	T	-0.473443	0.00809	T	-0.736317	0.04047	T	0.029850899699308	0.01967	T	0.178782	0.01763	T	0.03685515	0.04613	0.05646688	0.10095	0.03685515	0.04612	0.05646688	0.10094	1.452	0.00086	T	.	.	0.114	0.22717	B	.	.	-1.223093	0.00508	0.011	0.52013723781534171	0.04668	0.00708	0.02999	N	AEFI	0.059239	0.11175	N	-1.70259080793403	0.00833	0.03600691	-1.8455150810957	0.00624	0.0277433	1.37673941154237E-4	0.05486	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.76	-3.52	0.04383	-3.415000	0.00532	-1.264000	0.05871	-5.321000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2069:0.5233:0.2698:0.0	7.567	0.27054	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	158.11	40	chr11	1244763	.	G	T	158.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.050e-01;DP=2077;ExcessHet=0.1072;FS=1.083;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.58;MQRankSum=-7.083e+00;QD=0.18;ReadPosRankSum=0.330;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,26:369:59:0|1:1244763_G_T:59,0,14278:1244763	19	0	2	0
chr11	1244777	1244777	T	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T7897C:p.W2633R,	.	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	-0.55	N	2.19	T	-1.007	T	0.017	T	0.056	-1.384	0.025	-2.72	-3.051	0.563	1.026	0.042	0.000436924540565	.	.	0.0002	0.0001	0.0002	0	0.0002	0.0003	0	6.058e-05	3.84e-05	1	26028	rs774768277	6.185e-06	0.0016	4.103e-06	8.288e-06	7.224e-06	2.91e-06	2.11e-06	3.11e-06	2.25e-06	0	0	0	0	1.906e-05	0	7.224e-06	0	0	0.0001	0.0065	0.0001	9.605e-05	0.0002	6.64e-05	5.427e-05	0.0001	9.179e-05	2.442e-05	0	6.585e-05	0	0	9.964e-05	0	0.0002	0	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.0	0.21473	T	-0.82	0.22508	N	0.039	0.01274	-1.0070	0.27850	T	0.017	0.06950	T	9	0.051469415	0.05033	T	4.37E-4	0.00099	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.3131512029563216	0.31228	.	.	0.183986455202	0.00136	T	0.022518	0.17347	T	-0.355514	0.04390	T	-0.748448	0.03546	T	0.0561389739529774	0.06547	T	0.09979	0.00741	T	0.122071005	0.28693	0.10221244	0.24491	0.122071005	0.28693	0.10221244	0.24490	-5.564	0.42462	T	.	.	0.073	0.04681	B	.	.	0.271837	0.06494	2.973	0.31848576285588981	0.01816	0.00106	0.00678	N	AEFI	0.024663	0.01565	N	-1.89331361441333	0.00354	0.01522118	-1.98516358587488	0.00329	0.01452942	6.91002621139919E-4	0.07622	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.36	-2.72	0.05616	-0.553000	0.06104	-9.992000	0.00752	-1.543000	0.00974	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1397:0.3105:0.2348:0.315	1.026	0.01433	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	157.11	40	chr11	1244777	.	T	C	157.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.410e-01;DP=1612;ExcessHet=0.1072;FS=1.074;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.72;MQRankSum=-7.105e+00;QD=0.19;ReadPosRankSum=-1.037e+00;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,26:354:99:0|1:1244763_G_T:104,0,13587:1244763	19	0	2	0
chr11	1245213	1245213	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C8333T:p.T2778I,	.	.	613	907	2	0	0	2	0.00110132	.	.	3415712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.898	P	0.177	B	.	.	1.000	N	1.78	L	2.31	T	-1.038	T	0.037	T	0.065	-0.487	1.759	-0.087	-0.037	-0.072	5.098	0.023	0.000966906910766	.	.	0.0003	0.0019	0	0.0008	0	0.0002	0	0.0003	0.0002305	6	26028	rs201587515	0.0010	0.0081	0.0010	0.0010	0.0029	0.0010	0.0010	0.0025	0.0023	0.0029	0.0004	0.0008	0.0002	0.0048	0.0002	0.0009	0.0009	0.0004	0.0018	0.0047	0.0019	0.0016	0.0025	0.0016	0.0015	0.0021	0.0020	0.0025	0	0.0004	0.0022	0	0.0022	0	0.0019	0.0005	0.0007	0.008	0.58626	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.155	0.29575	L	2.13	0.19588	T	-0.79	0.21860	N	0.071	0.04426	-1.0382	0.17863	T	0.037	0.15986	T	9	0.023375303	0.00610	T	9.67E-4	0.01003	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.30675158290467086	0.30588	.	.	0.274089097977	0.06681	T	0.022435	0.17299	T	-0.348367	0.04831	T	-0.738181	0.03968	T	0.0122050581929686	0.00196	T	0.266473	0.04381	T	0.07363307	0.16468	0.0682227	0.14220	0.07363307	0.16467	0.0682227	0.14219	-3.095	0.11239	T	.	.	0.122	0.25462	B	.	.	0.137309	0.05316	1.808	0.59959044339541645	0.06348	0.01338	0.04604	N	AEFI	0.033206	0.03894	N	-0.727413001277045	0.15253	0.7671319	-0.975088836857857	0.10346	0.5205271	7.79414524778878E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.968	-0.087	0.13014	-0.997000	0.03816	0.217000	0.16029	0.394000	0.20511	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.7768:0.0:0.2232	5.098	0.14079	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	601.11	36	chr11	1245213	.	C	T	601.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.280e-01;DP=844;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=31.78;MQRankSum=-2.198e+00;QD=6.26;ReadPosRankSum=-1.310e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/1:31,13:44:99:412,0,1242	19	0	2	0
chr11	1246806	1246806	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C9926T:p.P3309L,	.	.	423	1094	4	1	0	6	0.00273473	.	.	2806574	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.013	B	0.001	B	.	.	1.000	N	0.46	N	2.15	T	-1.002	T	0.057	T	0.053	0.636	7.419	-0.182	-0.326	-0.376	9.587	0.030	.	.	0.00419329	0.0015	0.0039	0.0003	0.0002	0.0035	0.0015	0.0012	0.0009	0.0009221	24	26028	rs201585967	0.0008	0.0079	0.0008	0.0008	0.0008	0.0008	0.0007	0.0007	0.0007	0.0008	0.0003	0.0006	0.0002	0.0037	0	0.0007	0.0011	0.0005	0.0014	0.0056	0.0014	0.0014	0.0018	0.0012	0.0012	0.0015	0.0014	0.0011	0	0.0009	0.0009	0	0.0017	0	0.0018	0.0015	0.0008	0.324	0.13392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.39	0.00611	N	1.96	0.22270	T	-0.88	0.23808	N	0.03	0.00717	-1.0021	0.29313	T	0.057	0.23904	T	9	0.004843384	0.00103	T	.	.	.	0.030	0.07022	.	.	0.043077524339	0.03247	0.19572740986424156	0.19489	.	.	0.284503698349	0.08128	T	0.017656	0.14364	T	-0.425325	0.01583	T	-0.848727	0.00976	T	0.00114287191735389	0.00011	T	0.286771	0.05140	T	0.01839654	0.00361	0.03600386	0.02959	0.01839654	0.00361	0.03600386	0.02959	-2.031	0.03300	T	.	.	0.066	0.02285	B	.	.	-0.469930	0.01966	0.170	0.65360487744831952	0.07751	0.00396	0.01986	N	AEFI	0.034210	0.04198	N	-1.25895062939729	0.04183	0.1883026	-1.37859734316826	0.03481	0.1624666	1.03587662820436E-5	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.11	-0.182	0.12635	-3.719000	0.00431	-12.401000	0.00528	-4.513000	0.00027	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.697:0.0:0.303	9.587	0.38691	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	204.98	179	chr11	1246806	.	C	T	204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.72;DP=2742;ExcessHet=0.0000;FS=24.487;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.42;MQRankSum=-3.804e+00;QD=1.90;ReadPosRankSum=-1.414e+00;SOR=3.170	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,13:108:99:0|1:1246806_C_T:219,0,3947:1246806	20	0	1	0
chr11	1246809	1246809	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C9929G:p.T3310S,	.	.	424	1093	4	1	0	6	0.00273723	.	.	2806576	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.03	B	0.014	B	.	.	1.000	N	1.75	L	2.35	T	-0.975	T	0.043	T	0.118	0.425	6.311	-3.27	-0.415	0.761	7.473	0.010	.	.	0.00419329	0.0013	0.0036	0.0002	0	0.0035	0.0014	0.0013	0.0004	0.0008068	21	26028	rs199754770	0.0003	0.0045	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	6.741e-05	0.0004	0	0.0019	0	0.0003	0.0005	0.0001	0.0011	0.0051	0.0010	0.0011	0.0015	0.0009	0.0009	0.0012	0.0011	0.0007	0	0.0007	0.0006	0	0.0018	0	0.0015	0.0015	0.0002	0.669	0.04575	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.81	0.47622	L	2.17	0.19020	T	-0.47	0.15178	N	0.082	0.05799	-0.9753	0.36059	T	0.043	0.18535	T	9	0.008090526	0.00184	T	.	.	.	0.010	0.01040	.	.	0.102598925029	0.09809	0.1060103597288902	0.10531	.	.	0.295612335205	0.09748	T	0.021729	0.16872	T	-0.30847	0.07884	T	-0.680872	0.06931	T	0.00434275812655129	0.00046	T	0.178782	0.01763	T	0.0349988	0.04035	0.03848414	0.03728	0.0349988	0.04034	0.03848414	0.03728	-6.033	0.46555	T	.	.	0.143	0.31431	B	.	.	0.511971	0.08810	5.586	0.4751664859268479	0.03891	0.02219	0.06458	N	AEFI	0.048200	0.08201	N	-1.0469013912272	0.07649	0.3560125	-1.19249931600622	0.06034	0.289263	2.60389917358601E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.11	-3.27	0.04735	0.923000	0.28364	-0.283000	0.10254	0.414000	0.20733	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2887:0.4287:0.2827:0.0	7.473	0.26531	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	192.98	101	chr11	1246809	.	C	G	192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.31;DP=2667;ExcessHet=0.0000;FS=24.758;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.38;MQRankSum=-3.804e+00;QD=1.72;ReadPosRankSum=-1.305e+00;SOR=3.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,13:112:99:0|1:1246806_C_T:207,0,4054:1246806	20	0	1	0
chr11	1247226	1247226	A	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A10346C:p.N3449T,	.	.	431	1086	4	1	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.033	B	0.001	B	.	.	1.000	N	-1.845	N	2.31	T	-0.949	T	0.010	T	0.058	0.229	5.236	-6.0	-0.974	-0.458	3.910	0.017	0.00100045576362	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs200158850	0.0029	0.0054	0.0030	0.0029	0.0059	0.0029	0.0028	0.0052	0.0049	0.0059	0.0009	0.0022	0	0.0059	0.0002	0.0031	0.0030	0.0008	0.0011	0.0021	0.0012	0.0010	0.0025	0.0009	0.0009	0.0021	0.0019	0.0025	0	0.0001	0.0006	0	0.0019	0	0.0005	0.0015	0	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	2.12	0.19726	T	-0.13	0.08971	N	0.064	0.03613	-0.9494	0.41075	T	0.010	0.03856	T	9	0.062968284	0.08132	T	0.001	0.01073	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.19404810106661344	0.19322	.	.	0.258136212826	0.04671	T	0.027533	0.20144	T	-0.557311	0.00263	T	-0.855547	0.00892	T	0.0318699842159331	0.02285	T	0.225177	0.02943	T	0.026329836	0.01678	0.03097163	0.01622	0.026329836	0.01677	0.03097163	0.01622	-5.126	0.38180	T	.	.	0.083	0.09433	B	.	.	-0.848568	0.01015	0.042	0.43687165833246011	0.03306	0.00207	0.01180	N	AEFI	0.029542	0.02808	N	-1.76079097507469	0.00648	0.02797238	-1.78573240531941	0.00806	0.03597316	9.23150282117143E-4	0.08013	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.12	-6.0	0.02021	-2.483000	0.01057	-2.284000	0.03952	-1.438000	0.01107	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4765:0.3184:0.1172:0.0878	3.910	0.08699	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	103.98	101	chr11	1247226	.	A	C	103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=2498;ExcessHet=0.0000;FS=11.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.66;MQRankSum=-5.921e+00;QD=0.94;ReadPosRankSum=-2.993e+00;SOR=2.139	GT:AD:DP:GQ:PL	0/1:104,7:117:99:118,0,4334	20	0	1	0
chr11	1248015	1248015	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11135T:p.P3712L,	.	.	425	1088	8	1	0	10	0.00457457	.	.	2806586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.056	B	0.007	B	.	.	1.000	N	1.245	L	2.29	T	-1.022	T	0.040	T	0.092	0.559	7.020	1.16	0.010	.	7.448	0.024	0.00163941383286	.	.	0.0001	0.0001	8.655e-05	0.0009	0	3.045e-05	0	0	6.5e-06	1	154602	rs768796024	0.0004	0.0058	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	9.036e-05	6.747e-05	0.0002	0.0005	0.0025	0.0009	0.0003	0.0003	0.0003	0.0006	0.0031	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	0.0003	0	0.0003	0.0003	0.0006	0.0016	0	0.0008	0	0.0006	0.483	0.08164	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.415	0.35607	L	2.16	0.19166	T	-1.73	0.41046	N	0.059	0.03069	-1.0216	0.23195	T	0.040	0.17149	T	9	0.025567085	0.00747	T	0.001639	0.02676	T	0.024	0.04979	.	.	0.043077524339	0.03247	0.41931647305188957	0.41847	.	.	0.244248837233	0.03186	T	0.021356	0.16647	T	-0.64035	0.00083	T	-0.766709	0.02878	T	0.0179423793737533	0.00520	T	0.351565	0.07865	T	0.018587694	0.00381	0.036532283	0.03119	0.018587694	0.00381	0.036532283	0.03119	-6.192	0.47858	T	.	.	0.137	0.29860	B	.	.	0.153092	0.05450	1.920	0.81010241590012655	0.13476	0.00591	0.02650	N	AEFI	0.032740	0.03755	N	-0.961840334933017	0.09428	0.4461714	-1.04850934845842	0.08738	0.4311007	1.3978619616351E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.27	1.16	0.19936	-4.892000	0.00202	-2.513000	0.03663	-0.385000	0.05372	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6728:0.0:0.3272	7.448	0.26395	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	623.8	75	chr11	1248015	.	C	T	623.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-7.600e-01;DP=1574;ExcessHet=0.1072;FS=2.366;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=50.81;MQRankSum=-4.600e+00;QD=2.27;ReadPosRankSum=1.04;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,10:125:61:0|1:1247967_T_A:61,0,4616:1247967	18	0	2	1
chr11	1248480	1248480	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11600G:p.T3867S,	.	.	413	1104	4	1	0	6	0.00271003	.	.	2392311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.88	P	0.636	P	.	.	1.000	N	2.36	M	2.32	T	-1.050	T	0.074	T	0.078	-0.506	1.681	-3.86	-1.723	-0.262	5.418	0.042	0.000647662265824	.	.	9.993e-05	0.0005	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs760255789	0.0004	0.0053	0.0005	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0001	0.0002	0	0.0021	0	0.0004	0.0005	0.0002	0.0009	0.0041	0.0011	0.0007	0.0014	0.0008	0.0008	0.0012	0.0011	0.0004	0	0.0001	0.0012	0	0.0020	0	0.0014	0.0010	0	0.081	0.33418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.14	0.19450	T	-0.48	0.15379	N	0.212	0.23632	-1.0498	0.14453	T	0.074	0.30023	T	9	0.09746829	0.17557	T	6.48E-4	0.00350	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.1723493437124335	0.17154	.	.	0.269512474537	0.06077	T	0.020581	0.16179	T	-0.339343	0.05434	T	-0.725219	0.04548	T	0.0284981456361258	0.01762	T	0.215678	0.02687	T	0.0470713	0.07985	0.04731589	0.06787	0.0470713	0.07984	0.04731589	0.06786	-8.368	0.63552	D	.	.	0.141	0.31023	B	.	.	-0.178734	0.03201	0.530	0.66509984805745181	0.08080	0.00607	0.02700	N	AEFI	0.028204	0.02443	N	-0.718821208038785	0.15493	0.7812755	-1.05486022119159	0.08606	0.4239504	0.00247832193061608	0.09461	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.93	-3.86	0.03951	-0.124000	0.10571	-2.521000	0.03653	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4533:0.2628:0.2839	5.418	0.15683	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1037.11	168	chr11	1248480	.	C	G	1037.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.74;DP=3265;ExcessHet=0.1072;FS=77.432;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=52.17;MQRankSum=-6.102e+00;QD=3.39;ReadPosRankSum=-3.064e+00;SOR=4.653	GT:AD:DP:GQ:PL	0/1:117,20:137:99:468,0,4787	19	0	2	0
chr11	1248492	1248492	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11612T:p.T3871M,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.273	B	0.011	B	.	.	1.000	N	2.095	M	2.45	T	-1.012	T	0.032	T	0.04	-0.889	0.461	-2.62	-0.651	-0.311	2.038	0.023	0.000687575980038	.	.	5.828e-05	0	0	0.0001	0	7.551e-05	0	6.06e-05	6.5e-06	1	154602	rs751947149	0.0005	0.0063	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0004	0.0001	8.987e-05	0.0002	5.038e-05	0.0024	0	0.0005	0.0005	0.0002	0.0014	0.0037	0.0015	0.0012	0.0019	0.0012	0.0012	0.0017	0.0016	0.0003	0	0.0004	0.0018	0	0.0045	0	0.0019	0.0034	0.0006	0.022	0.48642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.26	0.17596	T	-0.87	0.23590	N	0.052	0.02366	-1.0122	0.26228	T	0.032	0.13898	T	9	0.05734238	0.06572	T	6.88E-4	0.00418	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.25397836234472576	0.25311	.	.	0.239563554525	0.02751	T	0.025771	0.19207	T	-0.394626	0.02510	T	-0.80463	0.01789	T	0.0286003611331885	0.01777	T	0.434357	0.11884	T	0.01591583	0.00165	0.031194555	0.01675	0.01591583	0.00165	0.031194555	0.01675	-9.699	0.72090	D	.	.	0.129	0.27553	B	.	.	0.270769	0.06484	2.961	0.79329188609127488	0.12692	0.02992	0.07850	N	AEFI	0.038089	0.05339	N	-1.59003640706088	0.01315	0.05726417	-1.74347895408907	0.00958	0.04290252	4.82336702138826E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.1	-2.62	0.05793	-0.815000	0.04588	-0.324000	0.09941	-1.771000	0.00664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1337:0.449:0.1321:0.2853	2.038	0.03328	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	248.11	168	chr11	1248492	.	C	T	248.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.50;DP=3290;ExcessHet=0.1072;FS=30.620;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.69;MQRankSum=-4.652e+00;QD=0.76;ReadPosRankSum=-2.075e+00;SOR=2.944	GT:AD:DP:GQ:PL	0/1:137,15:152:99:129,0,5488	19	0	2	0
chr11	1248533	1248533	C	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11653A:p.R3885S,	.	.	413	1093	16	0	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	0.97	L	1.83	T	-1.008	T	0.048	T	0.057	0.249	5.344	-0.905	-0.099	0.963	4.814	0.028	.	.	0.00978435	0.0067	0.0065	0.0016	0	0.0103	0.0088	0.0079	0.0040	0.0003169	49	154602	rs200531133	0.0004	0.0049	0.0005	0.0004	0.0044	0.0004	0.0004	0.0038	0.0036	0.0044	0.0002	7.75e-05	0	0.0035	0	0.0002	0.0005	0.0001	0.0019	0.0076	0.0019	0.0019	0.0041	0.0017	0.0017	0.0036	0.0034	0.0041	0	0.0007	0.0021	0	0.0024	0	0.0010	0.0019	0.0006	0.145	0.25154	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.665	0.16292	N	1.65	0.27650	T	-0.29	0.11728	N	0.038	0.01203	-1.0076	0.27665	T	0.048	0.20513	T	9	0.004948646	0.00106	T	.	.	.	0.028	0.06331	.	.	0.043077524339	0.03247	0.1732607520863186	0.17246	.	.	0.184156805277	0.00138	T	0.019783	0.15694	T	-0.710598	0.00032	T	-0.791721	0.02118	T	0.0021594767596445	0.00022	T	0.178282	0.01754	T	0.07202977	0.15990	0.055887517	0.09886	0.07202977	0.15990	0.055887517	0.09885	-3.01	0.10289	T	.	.	0.144	0.31733	B	.	.	-2.391566	0.00041	0.001	0.55390806864209352	0.05333	0.01295	0.04505	N	AEFI	0.049243	0.08487	N	-1.10216974858904	0.06605	0.3045007	-1.19833447619775	0.05938	0.2843696	8.94112762282216E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.76	-0.905	0.09992	-3.514000	0.00496	-13.430000	0.00459	-5.602000	0.00009	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1675:0.5686:0.0:0.2639	4.814	0.12722	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1680.11	168	chr11	1248533	.	C	A	1680.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.560e-01;DP=3379;ExcessHet=0.1072;FS=1.588;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=52.33;MQRankSum=-4.313e+00;QD=4.10;ReadPosRankSum=-3.500e-02;SOR=0.855	GT:AD:DP:GQ:PL	0/1:170,29:199:99:594,0,6844	19	0	2	0
chr11	1249171	1249171	G	0	exonic	MUC5B	.	.	.	.	.	465	977	67	1	12	81	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1165.22	39	chr11	1249171	.	G	A,*	1165.22	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=2.22;DP=1559;ExcessHet=1.1607;FS=9.281;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=52.13;MQRankSum=-6.057e+00;QD=1.63;ReadPosRankSum=1.43;SOR=1.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:99,3,62:164:99:.:.:2299,2543,6027,0,3239,3996	16	0	3	0
chr11	1250412	1250412	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G13532T:p.R4511I,	.	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.052	B	0.005	B	.	.	1.000	N	1.04	L	2.46	T	-0.999	T	0.028	T	0.139	-0.290	2.614	-4.24	-1.091	-0.882	7.805	0.012	0.00107642699956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751101852	0.0005	0.0077	0.0006	0.0005	0.0005	0.0005	0.0005	0.0005	0.0005	9.016e-05	4.489e-05	0.0003	0	0.0025	0.0005	0.0005	0.0005	0.0002	0.0002	0.0018	0.0002	0.0002	0.0002	0.0001	0.0001	9.31e-05	7.203e-05	9.85e-05	0	0	0.0003	0	0.0010	0	0.0002	0	0.0002	0.009	0.57480	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.27	0.17431	T	-0.97	0.25770	N	0.047	0.01911	-0.9993	0.30115	T	0.028	0.11882	T	9	0.05417359	0.05726	T	0.001076	0.01239	T	0.012	0.01476	.	.	0.043077524339	0.03247	0.27429200151051725	0.27342	.	.	0.253197193146	0.04111	T	0.018998	0.15217	T	-0.338961	0.05460	T	-0.72467	0.04573	T	0.0964776352379499	0.11965	T	0.439156	0.12095	T	0.04334099	0.06738	0.080607116	0.18247	0.04334099	0.06738	0.080607116	0.18247	-4.216	0.26983	T	.	.	0.09	0.12607	B	.	.	-0.564133	0.01673	0.119	0.58495695705046724	0.06006	0.00156	0.00937	N	AEFI	.	.	.	-1.78653674221469	0.00579	0.02493796	-1.92881921093145	0.00429	0.01897644	1.93811161106962E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.12	-4.24	0.03519	-2.162000	0.01363	-0.593000	0.08311	-1.429000	0.01117	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3724:0.4868:0.1408	7.805	0.28361	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	207.11	182	chr11	1250412	.	G	T	207.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=3469;ExcessHet=0.1072;FS=40.245;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=53.48;MQRankSum=-6.611e+00;QD=0.63;ReadPosRankSum=-3.339e+00;SOR=3.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,16:158:99:0|1:1250396_G_A:207,0,5914:1250396	19	0	2	0
chr11	1630194	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.354_383del:p.C142_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	1/1:0,11,0:11:50:503,50,0,503,50,503	15	3	0	1
chr11	1630164	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.324_383del:p.C132_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*,	.	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.621e-06	0	0	0	0	1.564e-05	0	0	.	.	.	.	0.0025	0.0025	0.0023	0.0027	0.0078	0.0024	0.0024	0.0070	0.0067	0.0078	0.0033	0.0093	0.0001	0.0010	0.0059	0.0020	0.0044	0.0048	0.0009	0.0043	0.0009	0.0008	0.0016	0.0007	0.0006	0.0012	0.0010	0.0016	0	0.0003	0.0020	0	0	0.0085	0.0006	0.0030	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2243.01	34	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG,C	2243.01	.	AC=6,2;AF=0.150,0.050;AN=40;BaseQRankSum=0.830;DP=1501;ExcessHet=0.0002;FS=4.867;InbreedingCoeff=0.6313;MLEAC=6,2;MLEAF=0.150,0.050;MQ=59.40;MQRankSum=-1.210e+00;QD=30.31;ReadPosRankSum=0.389;SOR=0.228	GT:AD:DP:GQ:PL	1/1:0,11,0:11:50:503,50,0,503,50,503	15	3	0	1
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,160,0:160:99:.:.:6493,491,0,6493,491,6493	3	3	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.0	B	.	.	1.000	P	0.145	N	2.52	T	-0.993	T	0.000	T	0.03	0.270	5.460	-6.48	-3.533	-1.103	3.030	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.09524	11120.92	197	chr11	1956322	.	G	A	11120.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.153e+00;DP=1450;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=0.475;SOR=0.694	GT:AD:DP:GQ:PL	0/1:93,113:206:99:2604,0,2139	17	0	4	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.052	B	0.033	B	0.833	N	1.000	N	0.915	L	1.16	T	-0.999	T	0.037	T	0.164	-0.591	1.351	-8.76	-1.815	-4.083	0.705	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	605.95	69	chr11	4488904	.	C	G,T	605.95	.	AC=5,3;AF=0.125,0.075;AN=40;BaseQRankSum=-2.135e+00;DP=2224;ExcessHet=3.5521;FS=176.401;InbreedingCoeff=-0.2568;MLEAC=5,3;MLEAF=0.125,0.075;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.714;SOR=12.957	GT:AD:DP:GQ:PL	0/1:57,29,24:110:50:84,0,700,50,587,763	12	0	5	1
chr11	5857398	5857398	C	T	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.G305A:p.G102D,	.	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.005	B	0.050	N	1.000	N	2	M	2.95	T	-1.040	T	0.015	T	0.567	0.260	5.403	3.29	1.088	-0.024	6.496	0.125	.	0.0003	0.00399361	0.0020	0	0.0003	0.0190	0.0015	0.0008	0.0044	0.0002	0.0018176	281	154602	rs143263598	0.0008	0.0008	0.0008	0.0008	0.0170	0.0008	0.0008	0.0160	0.0155	0	0.0004	0.0017	0.0170	0.0012	0.0007	0.0002	0.0013	0.0004	0.0011	0.0012	0.0011	0.0012	0.0192	0.0010	0.0009	0.0161	0.0150	0	0	0.0014	0.0020	0.0192	0.0011	0	0.0003	0.0014	0.0010	0.083	0.33091	T	0.044	0.49663	D	0.003	0.11197	B	0.005	0.11217	B	0.049972	0.23113	N	0.362111	0.999923	0.19486	N	1.935	0.51832	L	2.95	0.09635	T	-3.15	0.64132	D	0.336	0.37717	-1.0395	0.17465	T	0.015	0.05801	T	10	0.00841409	0.00191	T	.	.	.	0.125	0.34456	.	.	0.199424873507	0.19547	0.3340731362564264	0.33320	0.00247354185408	0.00212	0.190995126963	0.00243	T	0.008678	0.07952	T	-0.520509	0.00437	T	-0.504856	0.21846	T	0.0189130066481676	0.00601	T	0.633137	0.24745	T	0.16535392	0.36802	0.26504424	0.52332	0.16535392	0.36801	0.26504424	0.52331	-6.498	0.50271	T	.	.	0.130	0.27998	B	.	.	1.155056	0.15434	11.85	0.90702436527859531	0.19953	0.08177	0.14139	N	AEFI	0.095608	0.19314	N	-0.494573544296595	0.22259	1.187226	-0.482032122130509	0.22648	1.231221	5.60521394835325E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	3.29	0.36801	-0.445000	0.06918	.	.	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.5416:0.3598:0.0985	6.496	0.21337	737	0.53483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2786.98	41	chr11	5857398	.	C	T	2786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.151e+00;DP=953;ExcessHet=0.0000;FS=3.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=-3.490e-01;SOR=0.931	GT:AD:DP:GQ:PL	0/1:82,110:192:99:2801,0,2224	20	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.689	P	0.034	N	0.570	D	4.255	H	-0.08	T	0.418	D	0.499	T	0.685	1.906	12.33	3.23	0.271	3.583	13.827	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1980.01	154	chr11	6200107	.	C	G	1980.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.829e+00;DP=2478;ExcessHet=4.7172;FS=120.687;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=1.61;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:152,16:175:41:.:.:41,0,5841	12	0	9	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.911	P	0.158	B	0.004	N	0.906	D	1.675	L	1.07	T	-0.977	T	0.081	T	0.099	1.942	12.45	5.11	2.518	-0.072	13.517	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2170.01	155	chr11	6200109	.	C	G	2170.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.569e+00;DP=2452;ExcessHet=4.7172;FS=131.986;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=1.54;SOR=11.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,27:179:99:0|1:6200108_C_G:104,0,5829:6200108	12	0	9	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,37,38,0,0,0:75:99:.:.:2576,1592,1754,1045,0,1272,2659,1746,1267,2932,2659,1746,1267,2932,2932,2659,1746,1267,2932,2932,2932	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,37,38,0,0,0:75:99:.:.:2576,1592,1754,1045,0,1272,2659,1746,1267,2932,2659,1746,1267,2932,2932,2659,1746,1267,2932,2932,2932	0	5	0	0
chr11	6533756	6533756	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon14:c.C2581T:p.R861C,	.	.	407	1110	4	1	0	6	0.00269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	.	.	1.000	D	0.895	L	0.72	T	-0.752	T	0.209	T	0.463	3.618	18.41	5.92	2.795	2.426	15.808	0.240	0.0380248944767	.	0.000998403	0.0008	0	0	0	0	0	0	0.0020	0.0001423	22	154602	rs560574597	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	0.0003	3.971e-05	0	0	0.0016	4.171e-05	0.0002	0.0026	8.554e-05	8.534e-05	7.723e-05	9.422e-05	0.0021	4.964e-05	3.968e-05	0.0011	0.0009	2.412e-05	0	0	0	0	0	0.0034	1.471e-05	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	0.998675	0.45259	D	1.04	0.26193	L	0.72	0.50976	T	-4.39	0.77225	D	0.365	0.44283	-0.7516	0.57852	T	0.209	0.56906	T	9	0.011749864	0.00256	T	0.038025	0.57976	D	0.240	0.54500	0.516	0.61611	0.458644561121	0.45486	0.6865432728730755	0.68594	0.629869524817	0.57000	0.474402397871	0.35286	T	0.028636	0.20698	T	-0.36613	0.03795	T	-0.304555	0.44242	T	0.204847250874341	0.20681	T	0.649135	0.25986	T	0.18424475	0.39730	0.22098094	0.46893	0.18424475	0.39730	0.22098094	0.46892	-4.235	0.27255	T	.	.	0.146	0.32251	B	.;.	.;.	4.016331	0.59292	24.1	0.99941141151366708	0.99797	0.85724	0.44888	D	AEFGBI	0.359129	0.44957	N	0.495081107438591	0.66802	4.997474	0.500050859187274	0.67993	5.159266	0.999005225856939	0.38186	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.92	5.92	0.95557	2.396000	0.44122	1.722000	0.28267	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.0:1.0:0.0:0.0	15.808	0.78306	457	0.78953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2061.98	39	chr11	6533756	.	C	T	2061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.893;DP=1300;ExcessHet=0.0000;FS=4.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.11;ReadPosRankSum=-1.999e+00;SOR=0.381	GT:AD:DP:GQ:PL	0/1:56,72:128:99:2076,0,1519	20	0	1	0
chr11	6632964	6632964	G	A	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon6:c.C2548T:p.R850C,	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	424	1095	3	0	0	3	0.00136799	.	.	1187771	Inborn_genetic_diseases|DCHS1-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.002	B	0.001	B	0.004	N	0.991	D	3.575	H	0.56	T	-0.644	T	0.237	T	0.187	0.573	7.094	2.85	0.715	2.619	10.299	0.177	0.0492234256531	0.0003	0.00179712	0.0012	0.0024	8.667e-05	0.0003	0	1.505e-05	0.0011	0.0069	0.0010479	162	154602	rs79559386	0.0005	0.0005	0.0003	0.0007	0.0066	0.0005	0.0005	0.0061	0.0059	0.0027	6.708e-05	0	0	0	0.0010	1.619e-05	0.0007	0.0066	0.0009	0.0010	0.0008	0.0011	0.0079	0.0008	0.0008	0.0059	0.0052	0.0025	0	6.533e-05	0	0.0002	0	0	0	0.0009	0.0079	0.034	0.44029	D	0.044	0.49663	D	0.002	0.09854	B	0.001	0.04355	B	0.004185	0.34013	N	0.135740	0.991154	0.41320	D	2.825	0.82220	M	0.56	0.54540	T	-3.09	0.63438	D	0.294	0.33250	-0.6439	0.62979	T	0.237	0.60487	T	10	0.011422902	0.00250	T	0.049223	0.63719	D	0.177	0.44549	.	.	0.391520894214	0.38767	0.40940102527554945	0.40856	0.392951953292	0.40477	0.403489172459	0.25554	T	0.370323	0.73488	T	-0.474293	0.00799	T	-0.450759	0.27613	T	0.0661522035845533	0.08100	T	0.80392	0.45144	T	0.2043984	0.42548	0.15819551	0.36955	0.2043984	0.42548	0.15819551	0.36954	-9.492	0.70809	D	.	.	0.309	0.53671	B	.	.	3.805950	0.54866	23.5	0.94475344268276951	0.24927	0.96566	0.69781	D	AEFBI	0.406362	0.47888	N	-0.286009887344789	0.29688	1.648595	-0.270336427048827	0.29081	1.626442	0.901071023559853	0.26092	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	2.85	0.32333	2.398000	0.44140	8.558000	0.77555	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.1608:0.0:0.8392:0.0	10.299	0.42823	231	0.90996	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2483.98	35	chr11	6632964	.	G	A	2483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.949e+00;DP=976;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=1.23;SOR=0.731	GT:AD:DP:GQ:PL	0/1:82,100:182:99:2498,0,2106	20	0	1	0
chr11	8168901	8168901	C	T	exonic	RIC3	.	nonsynonymous SNV	RIC3:NM_001135109:exon1:c.G89A:p.R30H	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	N	1.000	D	2.255	M	1.41	T	-0.760	T	0.186	T	0.701	2.785	15.27	4.52	1.283	3.933	12.781	0.135	0.143192238447	.	.	4.393e-05	0	0	0	0	8.037e-05	0	0	4.53e-05	7	154602	rs202021657	6.031e-05	6.088e-05	6.956e-05	5.097e-05	0.0002	4.97e-05	4.635e-05	5.628e-05	5.2e-05	3.016e-05	0	0	0	0	0.0002	6.931e-05	4.983e-05	6.967e-05	4.6e-05	4.597e-05	2.569e-05	6.725e-05	0.0002	2.109e-05	1.527e-05	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0.0005	0.0002	0.0	0.91255	D	0.144	0.69154	T	0.552	0.38158	P	0.104	0.31021	B	0.000302	0.45977	N	0.088824	0.999697	0.81001	D	2.535	0.73915	M	1.41	0.33412	T	-1.9	0.64019	N	0.677	0.68429	-0.7599	0.57411	T	0.186	0.53601	T	10	0.25654465	0.43060	T	0.143192	0.82553	D	0.135	0.36572	0.33	0.31519	0.613577848098	0.61045	0.517964149204972	0.51719	0.38442944275	0.39743	0.669911682606	0.62825	T	0.108667	0.42189	T	-0.0527435	0.44029	T	-0.126366	0.61276	T	0.483834634152786	0.32038	T	0.921108	0.76191	D	0.19685413	0.41529	0.3274321	0.58641	0.19685413	0.41529	0.3274321	0.58640	-7.448	0.64733	T	.	.	0.347	0.56377	A	.;.;.;.;.;.	.;.;.;.;.;.	5.153470	0.86327	28.9	0.98962367655867289	0.49364	0.87297	0.46793	D	ALL	0.624463	0.60803	D	0.25244916359949	0.53758	3.543548	0.304632242991429	0.55809	3.743973	0.999999995674776	0.74766	0.446893	0.09132	0	0.552344	0.17405	0	0.519653	0.09787	0	0.530356	0.10902	0	.	.	5.43	4.52	0.54797	3.984000	0.56632	3.814000	0.39922	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9197:0.0:0.0803	12.781	0.56857	726	0.54788	.;Resistance to inhibitors of cholinesterase protein 3, N-terminal;Resistance to inhibitors of cholinesterase protein 3, N-terminal;.;Resistance to inhibitors of cholinesterase protein 3, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1080.98	34	chr11	8168901	.	C	T	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.538e+00;DP=792;ExcessHet=0.0000;FS=3.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.024e+00;SOR=1.121	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1095,0,943	20	0	1	0
chr11	8988216	8988216	G	A	exonic	NRIP3	.	nonsynonymous SNV	NRIP3:NM_020645:exon2:c.C241T:p.R81C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.791	P	0.000	D	1.000	D	1.61	L	0.82	T	-0.681	T	0.211	T	0.709	4.644	25.5	5.14	1.555	4.651	16.360	0.250	0.0282303886571	.	.	.	.	.	.	.	.	.	.	.	.	.	rs966118825	2.052e-05	2.052e-05	2.042e-05	2.063e-05	5.797e-05	1.456e-05	1.264e-05	2.194e-05	1.43e-05	0	2.236e-05	0	2.519e-05	0	0	2.069e-05	0	5.797e-05	3.943e-05	3.94e-05	5.139e-05	2.69e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.349e-05	0	0	0.106	0.30235	T	0.001	0.83351	D	0.999	0.77913	D	0.791	0.57754	P	0.000015	0.62929	D	0.114972	0.99999	0.58761	D	1.87	0.49600	L	0.82	0.48142	T	-2.69	0.66436	D	0.796	0.79214	-0.6809	0.61331	T	0.211	0.57107	T	10	0.505826	0.61812	D	0.02823	0.50935	D	0.250	0.55888	.	.	0.302459207581	0.29844	0.21268069628443445	0.21184	1.30182671262	0.83034	0.760835528374	0.76053	T	0.122897	0.44688	T	-0.0984464	0.36683	T	-0.176534	0.56842	T	0.884064733982086	0.53428	D	0.529847	0.17555	T	0.16868979	0.37342	0.14452891	0.34309	0.16868979	0.37341	0.14452891	0.34309	-5.017	0.37024	T	.	.	0.163	0.39782	B	.;.;.	.;.;.	4.629729	0.73600	26.0	0.99911724704689742	0.98095	0.87167	0.46625	D	AEFBCI	0.587459	0.58510	D	0.559951217589813	0.70690	5.538726	0.572438133642099	0.72971	5.894696	0.999996970771199	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.06	5.14	0.70008	4.865000	0.62695	8.705000	0.78119	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.1324:0.8676:0.0	16.360	0.83090	414	0.81871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2678.98	34	chr11	8988216	.	G	A	2678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=922;ExcessHet=0.0000;FS=3.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-5.770e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/1:110,109:219:99:2693,0,2475	20	0	1	0
chr11	10559867	10559867	G	C	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731G:p.A244G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.62	T	-0.348	T	0.350	T	0.535	4.797	27.1	5.44	2.570	5.738	18.043	0.279	0.035680634441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0001	9.22e-05	8.745e-05	0.0001	0.0001	3.018e-05	0	3.84e-05	0	0	0	0.0001	8.361e-05	3.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999976	0.53665	D	1.995	0.54099	M	2.62	0.57100	T	-2.2	0.74051	N	0.656	0.78072	-0.3484	0.73600	T	0.350	0.71439	T	10	0.7359656	0.74622	D	0.035681	0.56501	D	0.279	0.59619	0.486	0.56939	0.740229456086	0.73790	0.4308752596838396	0.43004	0.43936280621	0.43965	0.555330634117	0.46608	T	0.738373	0.92733	D	0.027231	0.55354	T	-0.198661	0.54773	T	0.952442526817322	0.63793	D	0.80142	0.48765	T	0.3713057	0.58681	0.47502097	0.69577	0.3713057	0.58681	0.47502097	0.69577	-3.975	0.23428	T	.	.	0.29	0.61572	B	.;.	.;.	4.798394	0.77943	26.8	0.99798832104841995	0.88372	0.95259	0.64030	D	AEFI	0.868902	0.78922	D	0.791556132315038	0.85574	8.616862	0.766818552650126	0.87408	9.211633	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:87,0,24:111:15:.:.:15,260,1988,0,1728,1665	8	0	1	6
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.998	D	0.000	D	1.000	D	2.215	M	2.74	T	-0.451	T	0.344	T	0.724	4.500	24.2	5.44	2.570	5.738	18.043	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2333	480.78	80	chr11	10559867	.	G	C,A	480.78	.	AC=1,6;AF=0.033,0.200;AN=30;BaseQRankSum=-3.132e+00;DP=2242;ExcessHet=2.5830;FS=198.804;InbreedingCoeff=-0.3113;MLEAC=1,7;MLEAF=0.033,0.233;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.321;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:87,0,24:111:15:.:.:15,260,1988,0,1728,1665	8	0	1	6
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	20646.17	38	chr11	12294842	.	A	C,*	20646.17	.	AC=13,3;AF=0.382,0.088;AN=34;BaseQRankSum=1.48;DP=1943;ExcessHet=0.0321;FS=0.000;InbreedingCoeff=0.1821;MLEAC=15,3;MLEAF=0.441,0.088;MQ=59.98;MQRankSum=0.00;QD=20.18;ReadPosRankSum=1.33;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,96,0:96:99:.:.:3290,285,0,3290,285,3290	6	2	6	4
chr11	15190718	15190718	T	G	exonic	INSC	.	nonsynonymous SNV	INSC:NM_001278313:exon5:c.T597G:p.I199M	.	.	.	.	.	.	.	.	.	.	.	2456192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.841	P	0.000	D	0.991	D	1.445	L	0.77	T	-0.797	T	0.150	T	0.893	3.663	18.62	-3.96	-0.742	-1.340	9.546	0.220	0.0139706971671	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348527627	6.843e-07	6.84e-07	0	1.375e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.009	0.69154	D	0.967	0.56408	D	0.711	0.54536	P	0.000000	0.84330	D	0.051719	0.990573	0.41189	D	0.805	0.20218	L	0.75	0.50192	T	-1.38	0.36189	N	0.755	0.75834	-0.7972	0.55309	T	0.150	0.47787	T	10	0.41366106	0.56395	T	0.013971	0.33765	T	0.220	0.51569	0.208	0.12497	0.429552544315	0.42571	0.33729431892773876	0.33642	0.0851224743082	0.09619	0.62581807375	0.56552	T	0.064755	0.32516	T	0.134606	0.67807	D	-0.0444243	0.67402	D	0.815301358699799	0.47427	D	0.870713	0.57621	D	0.31970492	0.54615	0.2638349	0.52195	0.31970492	0.54615	0.2638349	0.52194	-2.323	0.10063	T	.	.	0.079	0.11558	B	.;.;.;.;.;.	.;.;.;.;.;.	0.687690	0.10564	7.271	0.9905253050292383	0.51298	0.07562	0.13574	N	AEFBI	0.109180	0.21694	N	-0.251693941629113	0.31036	1.736335	-0.369676540472539	0.25907	1.427595	0.0437167085733527	0.14582	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	-3.96	0.03833	-1.522000	0.02341	-7.713000	0.01100	0.661000	0.55757	0.028000	0.20300	0.000000	0.08366	0.998000	0.85391	0.1074:0.5385:0.0:0.354	9.546	0.38444	866	0.32446	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2350.98	33	chr11	15190718	.	T	G	2350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.260e-01;DP=901;ExcessHet=0.0000;FS=1.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.853;SOR=0.573	GT:AD:DP:GQ:PL	0/1:92,100:192:99:2365,0,2266	20	0	1	0
chr11	21573279	21573279	G	A	exonic	NELL1	.	nonsynonymous SNV	NELL1:NM_001288714:exon18:c.G2081A:p.S694N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.842	P	0.287	B	0.001	N	0.783	D	1.59	L	-0.12	T	-0.536	T	0.194	T	0.158	3.726	18.92	5.73	2.707	4.900	13.141	0.106	0.0167546437355	.	0.000599042	0.0003	0	0	0	0	0	0	0.0024	0.0002781	43	154602	rs577039144	0.0002	0.0002	8.72e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	2.524e-05	0	0	7.199e-06	0.0003	0.0023	5.924e-05	5.908e-05	5.149e-05	6.734e-05	0.0019	3.082e-05	2.214e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.083	0.33091	T	0.217	0.45744	T	0.617	0.39849	P	0.242	0.40572	B	0.001019	0.40652	N	0.252441	0.685	0.34296	D	1.935	0.51832	L	-0.12	0.64630	T	-0.56	0.17003	N	0.467	0.52386	-0.5362	0.67307	T	0.194	0.54696	T	10	0.01931119	0.00430	T	0.016755	0.38167	T	0.106	0.30130	0.444	0.50139	0.770635318859	0.76853	0.41198320440569547	0.41114	0.116037333508	0.13092	0.632865428925	0.57552	T	0.01685	0.36391	T	-0.44195	0.01259	T	-0.412223	0.31968	T	0.0787373907359533	0.09824	T	0.823718	0.54891	T	0.070385866	0.15499	0.10725788	0.25818	0.070385866	0.15499	0.10725788	0.25818	-3.14	0.11761	T	.	.	0.075	0.09385	B	.;.;.;.	.;.;.;.	3.974038	0.58372	24.0	0.99565202905013572	0.72014	0.93359	0.58006	D	AEFI	0.616816	0.60324	D	0.317358992718798	0.57040	3.869902	0.440951175910315	0.64137	4.66219	0.569944130576997	0.21484	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.150000	0.57871	4.487000	0.43556	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0729:0.0:0.9271:0.0	13.141	0.58855	883	0.28872	VWFC domain;VWFC domain;VWFC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2226.98	34	chr11	21573279	.	G	A	2226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.598;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.99;SOR=0.692	GT:AD:DP:GQ:PL	0/1:92,94:186:99:2241,0,2128	20	0	1	0
chr11	22377713	22377713	C	G	exonic	SLC17A6	.	nonsynonymous SNV	SLC17A6:NM_020346:exon12:c.C1722G:p.S574R,	.	.	436	1078	8	0	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.133	N	0.985	N	0.55	N	0.19	T	-1.034	T	0.103	T	0.195	-0.528	1.596	1.96	0.116	0.594	9.973	0.055	0.00791264154761	0.0021	0.000798722	0.0020	0.0001	0.0008	0	0.0003	0.0035	0	0.0001	0.0018564	287	154602	rs143861002	0.0018	0.0018	0.0018	0.0017	0.0025	0.0017	0.0017	0.0021	0.0020	0.0002	0.0007	0.0011	0	0.0003	0.0025	0.0021	0.0019	0.0001	0.0012	0.0012	0.0014	0.0009	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0006	0.0006	0	9.43e-05	0	0.0021	0.0014	0	0.668	0.04588	T	0.419	0.14158	T	0.0	0.02946	B	0.0	0.01387	B	0.132684	0.18578	N	0.563404	0.98478	0.24770	N	0.55	0.14455	N	0.19	0.60236	T	-1.3	0.32590	N	0.142	0.14196	-1.0342	0.19109	T	0.103	0.37994	T	10	0.0070774257	0.00161	T	0.007913	0.20981	T	0.055	0.15663	0.248	0.18447	0.043077524339	0.03247	0.4667617079200497	0.46595	0.383390035695	0.39662	0.245070129633	0.03266	T	0.256392	0.62730	T	-0.493926	0.00618	T	-0.485631	0.23851	T	0.0079341436251645	0.00093	T	0.789321	0.42944	T	0.050903324	0.09268	0.06361085	0.12626	0.050903324	0.09267	0.06361085	0.12626	-4.237	0.27284	T	.	.	0.144	0.31808	B	.	.	1.167339	0.15569	11.95	0.75135494295925787	0.10959	0.90111	0.51035	D	AEFI	0.271038	0.38698	N	-0.470736285675034	0.23043	1.234672	-0.298168338570699	0.28159	1.567839	2.09188726613314E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.85	1.96	0.25203	0.824000	0.27034	1.797000	0.28849	0.599000	0.40250	1.000000	0.71638	0.967000	0.29559	0.993000	0.69303	0.0:0.7027:0.0:0.2973	9.973	0.40939	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	993.98	34	chr11	22377713	.	C	G	993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.430;DP=805;ExcessHet=0.0000;FS=0.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-8.520e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:43,38:81:99:1008,0,1092	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/3:13,0,0,21:36:99:230,328,760,328,760,760,0,254,254,175	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/3:13,0,0,21:36:99:230,328,760,328,760,760,0,254,254,175	0	0	0	0
chr11	43405811	43405811	T	G	exonic	TTC17	.	nonsynonymous SNV	TTC17:NM_001376528:exon8:c.T952G:p.Y318D	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.023	B	0.033	B	0.704	N	0.956	N	0	N	1.52	T	-1.057	T	0.035	T	0.706	1.693	11.62	4.44	2.152	1.718	2.575	0.171	0.00649168454515	.	0.000599042	0.0004	0	0.0002	0	0	1.499e-05	0	0.0025	0.000304	47	154602	rs563142674	0.0002	0.0002	8.44e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	6.711e-05	0	2.519e-05	0	0.0002	2.608e-05	0.0001	0.0021	8.535e-05	8.53e-05	7.708e-05	9.4e-05	0.0017	4.953e-05	3.96e-05	0.0008	0.0006	4.813e-05	0	0	0	0	0	0	4.41e-05	0	0.0017	0.14	0.25664	T	0.195	0.28032	T	0.014	0.16867	B	0.009	0.14300	B	0.704192	0.10068	N	0.885448	0.955651	0.26326	N	0	0.06538	N	1.52	0.30669	T	-1.47	0.38924	N	0.585	0.60579	-1.0571	0.12491	T	0.035	0.15160	T	10	0.011218518	0.00246	T	0.006492	0.17100	T	0.171	0.43483	.	.	0.553543533689	0.55011	0.5912785752752148	0.59057	0.348739940958	0.36736	0.503828406334	0.39361	T	0.026308	0.19495	T	-0.3449	0.05056	T	-0.274059	0.47408	T	0.0431550096188641	0.04265	T	0.725427	0.33942	T	0.09636776	0.22696	0.09722642	0.23132	0.09636776	0.22696	0.09722642	0.23132	-1.674	0.02162	T	.	.	0.069	0.03162	B	.;.	.;.	3.027262	0.40536	21.2	0.97784759016082856	0.35957	0.86718	0.46059	D	AEFBI	0.117505	0.23016	N	-0.254675922537552	0.30918	1.728511	-0.0272734557563845	0.38486	2.268242	0.0196231410134872	0.13180	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.64	4.44	0.53164	1.271000	0.32700	4.174000	0.42293	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1299:0.0818:0.2453:0.543	2.575	0.04513	349	0.85513	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1493.98	40	chr11	43405811	.	T	G	1493.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=799;ExcessHet=0.0000;FS=1.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.58;ReadPosRankSum=0.299;SOR=1.015	GT:AD:DP:GQ:PL	0/1:32,53:85:99:1508,0,757	20	0	1	0
chr11	44078700	44078700	G	A	exonic	ACCS	.	nonsynonymous SNV	ACCS:NM_001127219:exon9:c.G749A:p.G250D	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.872	P	0.000	D	1.000	D	3.665	H	-2.8	D	0.924	D	0.866	D	0.843	3.963	20.3	5.04	1.497	2.785	11.234	0.845	0.18448473897	.	0.000199681	0.0002	0	0.0003	0	0	5.999e-05	0.0011	0.0007	0.0001358	21	154602	rs567808580	0.0001	0.0001	6.398e-05	0.0002	0.0012	9.603e-05	9.083e-05	0.0010	0.0009	2.987e-05	0	0	0	0	0	4.676e-05	9.936e-05	0.0012	6.571e-05	6.562e-05	1.286e-05	0.0001	0.0017	3.517e-05	2.616e-05	0.0008	0.0006	0	0	0	0	0	0	0	2.941e-05	0	0.0017	0.021	0.49117	D	0.004	0.74150	D	0.981	0.59675	D	0.872	0.61918	P	0.000014	0.62929	D	0.110971	0.99988	0.50402	D	3.73	0.94857	H	-2.8	0.91076	D	-5.72	0.87531	D	0.853	0.84922	0.924	0.96017	D	0.866	0.95533	D	10	0.79813284	0.79256	D	0.184485	0.85752	D	0.845	0.95175	0.786	0.90919	0.867611819263	0.86632	0.8061722354847994	0.80572	0.545405473843	0.51576	0.602244257927	0.53221	T	0.524244	0.83419	D	0.0721506	0.61109	D	0.274515	0.86824	D	0.837296485900879	0.49108	D	0.752925	0.37500	T	0.81164867	0.84662	0.80856603	0.88809	0.81164867	0.84664	0.80856603	0.88810	-14.761	0.95267	D	.	.	0.960	0.87996	P	.	.	4.588315	0.72552	25.8	0.9970019381013161	0.80591	0.89587	0.50147	D	AEFBI	0.574403	0.57720	D	0.584989672655147	0.72237	5.774251	0.520257412842173	0.69355	5.348463	0.0043280523651247	0.10502	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.96	5.04	0.67293	2.687000	0.46643	9.706000	0.81318	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.983000	0.59808	0.0:0.1376:0.7196:0.1428	11.234	0.48157	849	0.35778	Aminotransferase, class I/classII	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1067.98	33	chr11	44078700	.	G	A	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-01;DP=786;ExcessHet=0.0000;FS=0.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.817;SOR=0.885	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1082,0,1098	20	0	1	0
chr11	45934054	45934054	C	T	exonic	PHF21A	.	nonsynonymous SNV	PHF21A:NM_001101802:exon18:c.G1957A:p.A653T	.	YES	417	1100	5	0	0	5	0.00226757	.	.	3137066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.005	B	0.000	D	0.971	D	-0.55	N	-3.27	D	-0.206	T	0.533	D	0.262	1.666	11.53	4.37	1.359	1.597	10.105	0.287	0.0308067611505	.	.	0.0002	0	0	0	0	1.515e-05	0	0.0014	0.0001488	23	154602	rs142948382	0.0001	0.0001	5.311e-05	0.0001	0.0016	8.716e-05	8.203e-05	0.0013	0.0013	0	0	0	0	1.873e-05	0	1.799e-06	0.0002	0.0016	4.598e-05	4.594e-05	0	9.405e-05	0.0012	2.109e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.113	0.28772	T	0.639	0.08900	T	0.001	0.07471	B	0.005	0.11217	B	0.000055	0.53742	D	0.118422	0.914167	0.38825	D	0	0.06538	N	-3.62	0.95077	D	-0.59	0.18877	N	0.11	0.17553	-0.2059	0.77519	T	0.533	0.82699	D	10	0.02818793	0.00954	T	0.030807	0.53037	D	0.287	0.60574	0.109	0.01988	0.472160230155	0.46843	0.4406059965749234	0.43977	0.107616531999	0.12144	0.351581931114	0.18154	T	0.059223	0.31057	T	-0.226699	0.17087	T	-0.143966	0.59772	T	0.0396359958861064	0.03624	T	0.805819	0.54290	T	0.091583446	0.21462	0.08640395	0.20016	0.10734878	0.25383	0.090616025	0.21258	-3.53	0.17110	T	0.14058686052569602	0.15745	0.063	0.05404	B	.;.;.	.;.;.	2.575562	0.33383	19.32	0.98034374469494745	0.37735	0.92972	0.57003	D	AEFDBI	0.244420	0.36553	N	-0.396124313537815	0.25606	1.391291	-0.159756804516202	0.33034	1.88548	0.999997761469134	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.3	4.37	0.51830	1.357000	0.33694	0.815000	0.21791	0.599000	0.40250	1.000000	0.71638	0.971000	0.29754	0.998000	0.85391	0.0:0.7798:0.1398:0.0804	10.105	0.41701	330	0.86467	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	696.98	34	chr11	45934054	.	C	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.550e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.30;ReadPosRankSum=-2.140e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/1:56,28:84:99:711,0,1601	20	0	1	0
chr11	46494176	46494176	C	T	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001300731:exon9:c.G2188A:p.A730T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.049	B	0.013	B	0.000	D	0.998	N	0	N	-2.68	D	-0.732	T	0.422	T	0.441	2.718	15.05	5.03	2.522	4.333	12.220	0.281	0.0287827954821	.	0.000599042	0.0006	0	0	0	0	0	0	0.0037	0.0003234	50	154602	rs537702870	0.0002	0.0002	0.0001	0.0002	0.0027	0.0002	0.0001	0.0024	0.0023	0	0	0	0	0	0	1.805e-06	0.0002	0.0027	0.0001	0.0001	5.142e-05	0.0002	0.0035	7.574e-05	6.28e-05	0.0022	0.0018	2.407e-05	0	0	0	0	0	0	0	0	0.0035	0.37	0.17761	T	0.965	0.04129	T	0.007	0.14184	B	0.005	0.11217	B	0.000021	0.55875	D	0.161401	0.99794	0.44345	D	-0.345	0.03330	N	-2.68	0.90391	D	0.08	0.09460	N	0.375	0.41754	-0.7319	0.58867	T	0.422	0.76710	T	10	0.009637982	0.00217	T	0.028783	0.51409	D	0.281	0.59861	0.203	0.11797	0.543795930759	0.54033	0.32616573941242244	0.32529	1.15506956845	0.79341	0.703337430954	0.67627	T	0.006934	0.36144	T	-0.254124	0.13598	T	-0.142735	0.59880	T	0.0547562607819256	0.06316	T	0.956004	0.83260	D	0.08168865	0.18782	0.0863331	0.19995	0.08168865	0.18782	0.0863331	0.19994	-3.383	0.15821	T	.	.	0.079	0.19559	B	.;.;.;.;.	.;.;.;.;.	3.330002	0.45838	22.2	0.99474128079027835	0.66525	0.83240	0.42373	D	AEFBI	0.234858	0.35755	N	-0.244678030299723	0.31315	1.754749	-0.00185075785761053	0.39633	2.352841	0.999998808294533	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	4.193000	0.58183	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9217:0.0:0.0783	12.220	0.53743	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	721.98	34	chr11	46494176	.	C	T	721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.20;ReadPosRankSum=-1.550e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/1:59,29:88:99:736,0,1526	20	0	1	0
chr11	47565758	47565758	C	G	exonic	PTPMT1	.	nonsynonymous SNV	PTPMT1:NM_001143984:exon1:c.C136G:p.L46V	.	.	388	1130	4	0	0	4	0.00176678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.782	P	0.3	B	0.126	U	1.000	N	1.775	L	1.99	T	-0.902	T	0.172	T	0.221	2.688	14.95	3.42	0.615	0.677	10.074	0.075	0.0549376944573	.	.	0.0001	0.0004	0	0	0	0	0	0.0006	3.88e-05	6	154602	rs747019651	1.941e-05	1.984e-05	5.507e-06	3.352e-05	0.0003	1.346e-05	1.159e-05	0.0002	0.0002	0	0	0	0	0	0	0	1.682e-05	0.0003	6.572e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.013	0.53900	D	0.027	0.56192	D	0.782	0.44333	P	0.187	0.36167	B	0.125673	0.18833	U	0.437967	0.984203	0.24820	N	2.15	0.60148	M	1.99	0.61326	T	-0.91	0.24460	N	0.151	0.20793	-0.9018	0.47803	T	0.172	0.51421	T	10	0.13126543	0.24982	T	0.054938	0.66045	D	0.075	0.21907	0.679	0.81691	0.673730733854	0.67097	0.6040287904958269	0.60333	0.555016166162	0.52216	0.858489751816	0.90887	D	0.053222	0.44776	T	-0.286342	0.10006	T	-0.394041	0.34080	T	0.349418878555298	0.26996	T	.	.	.	0.08352233	0.19292	0.13363802	0.32041	0.08352233	0.19291	0.13363802	0.32040	-4.059	0.47002	T	.	.	0.330	0.57117	B	.;.;.;.	.;.;.;.	2.093629	0.26636	17.19	0.99037421107713119	0.50939	0.61930	0.31629	D	AEFDGBHCI	0.300047	0.40893	N	-0.234494611739317	0.31726	1.78192	-0.215833233016863	0.30968	1.748278	0.999999999990738	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.28	3.42	0.38259	0.737000	0.25812	1.702000	0.28138	-0.202000	0.08738	0.997000	0.40164	1.000000	0.68203	0.742000	0.35507	0.0:0.843:0.0:0.157	10.074	0.41522	10	0.99061	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1029.98	33	chr11	47565758	.	C	G	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.626e+00;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.904;SOR=0.662	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1044,0,1421	20	0	1	0
chr11	47779174	47779174	G	T	exonic	NUP160	.	nonsynonymous SNV	NUP160:NM_015231:exon36:c.C4242A:p.D1414E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.816	P	0.311	B	0.000	D	1.000	D	1.245	L	1.59	T	-1.105	T	0.055	T	0.398	3.225	16.81	4.66	1.496	2.661	12.930	0.090	0.00920158536428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	0.08917	T	0.152	0.32249	T	0.816	0.45573	P	0.311	0.41430	B	0.000016	0.62929	D	0.126700	0.995199	0.81001	D	1.1	0.28011	L	1.59	0.28836	T	-0.51	0.15986	N	0.129	0.12341	-1.1050	0.03537	T	0.055	0.23148	T	10	0.14362082	0.27265	T	0.009202	0.24177	T	0.090	0.26093	0.177	0.08379	0.308278614506	0.30437	0.22716847177845445	0.22631	0.189557349324	0.21274	0.697752356529	0.66820	T	0.017331	0.14159	T	-0.140313	0.29842	T	-0.439327	0.28883	T	0.64830219745636	0.38389	D	.	.	.	0.054191303	0.10362	0.066436365	0.13609	0.054191303	0.10362	0.066436365	0.13609	-2.966	0.09819	T	.	.	0.095	0.14842	B	.	.	2.552597	0.33039	19.22	0.99571228979558457	0.72379	0.93905	0.59531	D	AEFGBI	0.324920	0.42666	N	0.0704408912680736	0.45087	2.771237	0.167723403673578	0.48090	3.029634	0.999960917479138	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	4.66	0.57857	1.385000	0.34014	5.130000	0.47647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.076:0.0:0.924:0.0	12.930	0.57681	14	0.98855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	981.98	40	chr11	47779174	.	G	T	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.388e+00;DP=838;ExcessHet=0.0000;FS=0.888;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.726;SOR=0.531	GT:AD:DP:GQ:PL	0/1:34,42:76:99:996,0,859	20	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:224,0,62:286:99:0|1:56375918_A_G:1929,2603,12009,0,9406,9219:56375918	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:224,0,62:286:99:0|1:56375918_A_G:1929,2603,12009,0,9406,9219:56375918	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:224,0,62:286:99:0|1:56375918_A_G:1929,2603,12009,0,9406,9219:56375918	1	0	3	1
chr11	58031388	58031388	A	C	exonic	OR6Q1	.	nonsynonymous SNV	OR6Q1:NM_001005186:exon1:c.A436C:p.I146L,	.	.	427	1087	7	1	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.001	B	0.006	B	0.139	N	1.000	N	-0.325	N	1.26	T	-1.010	T	0.027	T	0.304	1.057	9.316	0.015	-0.028	-1.069	3.242	0.043	.	0.0002	0.00858626	0.0032	9.61e-05	0.0003	0.0002	0	2.997e-05	0.0033	0.0227	0.0028719	444	154602	rs138730895	0.0013	0.0013	0.0006	0.0019	0.0204	0.0012	0.0012	0.0196	0.0193	2.987e-05	8.944e-05	0	2.519e-05	0	0.0005	8.993e-06	0.0013	0.0204	0.0008	0.0008	0.0004	0.0012	0.0245	0.0007	0.0007	0.0209	0.0195	2.407e-05	0	0.0001	0	0.0004	0	0	1.47e-05	0.0005	0.0245	0.438	0.09319	T	.	.	.	0.001	0.07471	B	0.006	0.12133	B	0.139159	0.18353	N	0.392857	0.999996	0.58761	D	-0.38	0.03056	N	1.26	0.36330	T	-0.38	0.13418	N	0.091	0.06990	-1.0104	0.26791	T	0.027	0.11707	T	10	0.0018544495	0.00025	T	.	.	.	0.043	0.11576	.	.	0.21279746466	0.20884	0.15201716873425436	0.15123	0.0361520679854	0.03821	0.315418362617	0.12727	T	0.003	0.02504	T	-0.566039	0.00234	T	-0.568932	0.15547	T	0.0109797543959309	0.00158	T	0.0344965	0.00231	T	0.06392953	0.13513	0.071705416	0.15385	0.06392953	0.13512	0.071705416	0.15384	-2.661	0.06981	T	.	.	0.066	0.02200	B	.	.	-0.287042	0.02674	0.344	0.87065885494475515	0.16965	0.14421	0.18394	N	AEFBI	0.174100	0.30122	N	-0.961558466133233	0.09434	0.4464948	-0.827642874662179	0.13827	0.7193443	0.00189353185730355	0.08984	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.04	0.015	0.13422	-2.551000	0.01004	-5.390000	0.01737	0.727000	0.85467	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.358:0.0:0.3305:0.3115	3.242	0.06382	421	0.81399	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3168.98	186	chr11	58031388	.	A	C	3168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=2450;ExcessHet=0.0000;FS=4.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-6.700e-02;SOR=0.981	GT:AD:DP:GQ:PL	0/1:124,119:243:99:3183,0,3279	20	0	1	0
chr11	58358170	58358170	C	T	exonic	OR5B17	.	nonsynonymous SNV	OR5B17:NM_001005489:exon1:c.G900A:p.M300I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	.	.	1.000	N	-0.175	N	1.28	T	-1.027	T	0.038	T	0.04	-0.322	2.471	-1.17	-0.082	-3.508	5.269	0.062	0.00175093198672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.097	0.39190	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.245	0.03879	N	1.28	0.35960	T	-1.28	0.32185	N	0.037	0.01135	-1.0274	0.21299	T	0.038	0.16548	T	9	0.06617108	0.09037	T	0.001751	0.02960	T	0.062	0.17934	0.518	0.61915	0.0611884634855	0.05136	0.04196166402900863	0.04141	0.00531629133711	0.00468	0.198133453727	0.00404	T	0.008779	0.08035	T	-0.388482	0.02751	T	-0.795804	0.02010	T	0.0327330900449027	0.02427	T	0.0359464	0.00247	T	0.1077069	0.25468	0.121902384	0.29409	0.1077069	0.25468	0.121902384	0.29408	-3.077	0.11033	T	.	.	0.147	0.32469	B	.	.	-0.680358	0.01367	0.077	0.67119739765775077	0.08260	0.02283	0.06581	N	AEFI	0.035019	0.04437	N	-1.28810383539775	0.03818	0.1712229	-1.33973801635374	0.03928	0.184258	1.91526172374714E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.63	-1.17	0.09152	-6.177000	0.00094	-20.000000	0.00162	-0.362000	0.05498	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.4698:0.4001:0.1301	5.269	0.14926	259	0.89842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2560.98	98	chr11	58358170	.	C	T	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.300e-01;DP=2380;ExcessHet=0.0000;FS=1.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=0.478;SOR=0.611	GT:AD:DP:GQ:PL	0/1:135,106:241:99:2575,0,3405	20	0	1	0
chr11	59125014	59125014	A	G	exonic	FAM111B	.	nonsynonymous SNV	FAM111B:NM_001142704:exon2:c.A827G:p.H276R	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, Autosomal dominant	.	438	1082	1	1	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.006	B	0.004	B	0.565	N	1.000	N	1.24	L	1.56	T	-1.028	T	0.046	T	0.12	-0.050	3.760	-2.07	-0.554	0.296	3.502	0.038	.	.	0.00499201	0.0018	0.0001	8.735e-05	0	0	1.516e-05	0.0011	0.0130	0.0015977	247	154602	rs200497516	0.0006	0.0006	0.0004	0.0009	0.0099	0.0006	0.0006	0.0093	0.0091	2.993e-05	0	0	2.52e-05	0	0.0005	5.397e-06	0.0010	0.0099	0.0004	0.0004	0.0003	0.0005	0.0114	0.0003	0.0003	0.0090	0.0081	0.0001	0	0	0	0	0	0	0	0.0005	0.0114	0.006	0.63226	D	0.027	0.55341	D	0.006	0.13644	B	0.004	0.10090	B	0.565143	0.11296	N	0.676215	1	0.08975	N	1.04	0.26193	L	1.56	0.29866	T	-2.31	0.51319	N	0.077	0.05162	-1.0284	0.20973	T	0.046	0.19839	T	10	0.0044808984	0.00092	T	.	.	.	0.038	0.09825	0.08	0.00663	0.220303561663	0.21668	0.06344826482624687	0.06283	0.0791435430555	0.08904	0.356573522091	0.18886	T	0.078392	0.35880	T	-0.610809	0.00125	T	-0.639774	0.09684	T	0.032085732264013	0.02319	T	0.370463	0.08742	T	0.10039463	0.23705	0.07287894	0.15774	0.11925082	0.28083	0.07877071	0.17672	-2.106	0.03610	T	.	.	0.087	0.13456	B	.;.;.;.	.;.;.;.	0.017877	0.04408	1.147	0.28884847701285266	0.01505	0.02608	0.07182	N	AEFBCI	0.024543	0.01538	N	-1.22782441266284	0.04600	0.2079612	-1.32402716503198	0.04122	0.1937447	4.10826198967136E-4	0.06860	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	3.49	-2.07	0.06873	0.251000	0.18025	-0.711000	0.07750	-0.086000	0.16202	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5252:0.0:0.3083:0.1664	3.502	0.07238	626	0.65439	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1359.98	35	chr11	59125014	.	A	G	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.164e+00;DP=917;ExcessHet=0.0000;FS=6.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.898;SOR=1.254	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1374,0,1489	20	0	1	0
chr11	61121788	61121788	G	A	exonic	CD5	.	nonsynonymous SNV	CD5:NM_001346456:exon6:c.G812A:p.R271Q	.	.	420	1097	5	0	0	5	0.00227376	.	.	2708526	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.004	B	0.001	B	0.117	N	1.000	N	1.01	L	1.37	T	-1.033	T	0.061	T	0.044	0.588	7.171	-9.12	-2.001	-1.479	14.859	0.045	0.00921725508762	0.0002	.	0.0002	0	8.667e-05	0	0.0003	0.0002	0.0011	0.0004	0.0001552	24	154602	rs143050269	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0004	0.0004	8.975e-05	0.0001	0	2.528e-05	0.0006	0.0005	0.0001	0.0002	0.0005	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	0	0	0.0003	0	0	0.0002	0	0.0003	0.0005	0.0017	0.378	0.11262	T	0.387	0.15650	T	0.004	0.12183	B	0.001	0.04355	B	0.116908	0.02690	N	1.789010	1	0.08975	N	0.5	0.13406	N	1.37	0.34253	T	-0.2	0.10136	N	0.216	0.24135	-1.0333	0.19395	T	0.061	0.25492	T	10	0.021372706	0.00510	T	0.009217	0.24225	T	0.045	0.12272	.	.	0.250039746154	0.24611	0.29625810972776784	0.29538	0.332585113786	0.35307	0.194379627705	0.00312	T	0.084317	0.37250	T	-0.652316	0.00070	T	-0.823064	0.01391	T	0.00933613784167353	0.00119	T	0.60384	0.22664	T	0.043425106	0.06765	0.050805233	0.08049	0.043425106	0.06765	0.050805233	0.08049	-2.615	0.06618	T	.	.	0.072	0.04238	B	.	.	-1.033327	0.00725	0.022	0.79583291658759681	0.12808	0.00383	0.01935	N	AEFDGBI	0.036066	0.04746	N	-1.83220546551965	0.00471	0.02027139	-1.94335007268373	0.00401	0.01772041	0.999999965499289	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.89	-9.12	0.00604	-1.180000	0.03197	-4.048000	0.02373	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2012:0.0992:0.6996:0.0	14.859	0.70004	308	0.87611	SRCR domain|SRCR-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1115.98	34	chr11	61121788	.	G	A	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.590e-01;DP=764;ExcessHet=0.0000;FS=7.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-6.070e-01;SOR=0.267	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1130,0,1188	20	0	1	0
chr11	61533053	61533053	C	T	exonic	SYT7	.	nonsynonymous SNV	SYT7:NM_001370210:exon2:c.G575A:p.R192H	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.059	B	0.008	B	0.007	N	1.000	D	0.895	L	1.8	T	-1.069	T	0.092	T	0.305	2.981	15.94	3.56	1.015	3.192	8.798	0.056	.	0.0002	0.00798722	0.0068	0	0.0009	0.0001	0	9.098e-05	0.0034	0.0488	0.0056662	876	154602	rs199660597	0.0027	0.0027	0.0016	0.0039	0.0434	0.0026	0.0026	0.0423	0.0418	0.0001	0.0002	0	2.519e-05	0	0.0016	3.867e-05	0.0025	0.0434	0.0014	0.0014	0.0006	0.0023	0.0431	0.0013	0.0012	0.0383	0.0365	4.81e-05	0	0.0001	0	0.0002	0	0	4.41e-05	0	0.0431	0.133	0.55530	T	0.369	0.47828	T	0.006	0.13644	B	0.002	0.06944	B	0.006903	0.31720	N	0.343522	0.999999	0.81001	D	1.245	0.31408	L	0.43	0.57729	T	-1.13	0.33998	N	0.369	0.44090	-1.0692	0.09590	T	0.092	0.35010	T	10	0.0030896664	0.00051	T	.	.	.	0.056	0.15993	.	.	0.701279832967	0.69869	0.3653199990426377	0.36445	0.994701438543	0.74181	0.483835786581	0.36585	T	0.16229	0.50688	T	-0.425163	0.01587	T	-0.350637	0.39131	T	0.0426441641605728	0.04172	T	0.860114	0.55285	D	0.04556285	0.07478	0.038671173	0.03786	0.04556285	0.07478	0.038671173	0.03785	-4.132	0.31894	T	.	.	0.091	0.14660	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.546919	0.71521	25.7	0.99690526190213291	0.79909	0.96966	0.71921	D	AEFBI	0.610406	0.59924	D	-0.500330354956282	0.22069	1.175877	-0.331477828408814	0.27088	1.500683	0.999964957930018	0.48965	0.695654	0.57023	0	0.563428	0.19063	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.47	3.56	0.39892	3.247000	0.51123	2.730000	0.34381	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.8238:0.0:0.1762	8.798	0.34051	735	0.53711	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1205.98	42	chr11	61533053	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.101;DP=816;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-4.750e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1220,0,1322	20	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,41:102:99:0|1:61740527_G_C:768,0,1489:61740527	4	0	16	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,41:103:99:0|1:61740527_G_C:775,0,1496:61740527	0	0	21	0
chr11	63290238	63290238	C	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon1:c.C73T:p.L25F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.009	B	0.008	B	0.671	N	1.000	N	0.53	N	0.6	T	-1.033	T	0.070	T	0.175	-0.187	3.090	-3.69	-0.526	-5.774	4.736	0.027	0.00343814914755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.498	0.11263	T	0.009	0.15093	B	0.008	0.13708	B	0.670784	0.10343	N	0.836159	1	0.08975	N	0.585	0.15399	N	0.6	0.53731	T	-1.06	0.27669	N	0.111	0.09772	-1.0334	0.19363	T	0.070	0.28609	T	10	0.042034864	0.02914	T	0.003438	0.07755	T	0.027	0.05988	0.359	0.36222	0.0884992946249	0.08302	0.34639545789419457	0.34553	0.0155235919736	0.01479	0.325473725796	0.14249	T	0.004242	0.03650	T	-0.264077	0.12426	T	-0.617105	0.11413	T	0.986176431179047	0.76962	D	0.288571	0.05217	T	0.03839796	0.05108	0.03959984	0.04088	0.03839796	0.05108	0.03959984	0.04088	-4.392	0.29448	T	.	.	0.098	0.16363	B	.	.	-1.318392	0.00423	0.008	0.40667526190809317	0.02885	0.00529	0.02453	N	AEFBCI	0.062766	0.12086	N	-1.57802451807214	0.01378	0.06005529	-1.67294110990565	0.01262	0.05688687	0.996999245436295	0.35182	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-3.69	0.04162	-5.163000	0.00171	-20.000000	0.00162	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1616:0.2773:0.0:0.561	4.736	0.12364	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1071	53.91	76	chr11	63290238	.	C	T	53.91	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.497e+00;DP=1925;ExcessHet=0.3300;FS=103.985;InbreedingCoeff=-0.1952;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=-1.610e-01;SOR=9.844	GT:AD:DP:GQ:PL	0/1:70,24:100:43:43,0,1226	11	0	3	7
chr11	65580359	65580359	G	A	exonic	EHBP1L1	.	nonsynonymous SNV	EHBP1L1:NM_001099409:exon6:c.G514A:p.A172T	.	.	427	1074	21	0	0	21	0.00968188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	0.000	D	1.000	D	1.585	L	-0.74	T	0.407	D	0.679	D	0.591	4.882	28.0	5.31	2.473	7.793	14.458	0.447	0.371394906002	0.0004	0.000399361	0.0011	0.0003	0.0005	0.0002	0	0.0004	0.0022	0.0056	0.0008861	137	154602	rs199551986	0.0008	0.0008	0.0006	0.0010	0.0070	0.0007	0.0007	0.0065	0.0063	8.961e-05	0.0004	3.826e-05	0	1.881e-05	0.0040	0.0004	0.0012	0.0070	0.0004	0.0004	0.0004	0.0005	0.0039	0.0004	0.0003	0.0026	0.0021	0.0002	0	0.0005	0	0.0002	0	0	0.0004	0.0005	0.0039	0.022	0.48642	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.62929	D	0.000000	0.99999	0.58761	D	2.215	0.62545	M	-0.74	0.85320	T	-3.36	0.72240	D	0.634	0.64733	0.407	0.89203	D	0.679	0.88896	D	10	0.010629058	0.00236	T	0.371395	0.92755	D	0.447	0.74866	.	.	0.938674168669	0.93804	0.45533425564377616	0.45451	0.259595418494	0.28516	0.676835298538	0.63816	T	0.122313	0.67767	T	-0.201702	0.20559	T	-0.0596176	0.66359	T	0.0390820568234655	0.03525	T	0.995075	0.98330	D	0.30694756	0.53520	0.34313014	0.60029	0.30694756	0.53520	0.34313014	0.60028	-10.273	0.75530	D	.	.	0.894	0.82382	P	.;.;.	.;.;.	4.825250	0.78636	26.9	0.99923665458610822	0.98917	0.97831	0.77455	D	AEFGBI	0.828378	0.74748	D	0.726928487087129	0.81398	7.512736	0.721130121449755	0.83984	8.167172	0.999999999940314	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	5.227000	0.65134	11.687000	0.94301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	14.458	0.67008	280	0.88949	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3766.11	95	chr11	65580359	.	G	A	3766.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.01;DP=1734;ExcessHet=0.1072;FS=1.806;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.836;SOR=0.808	GT:AD:DP:GQ:PL	0/1:82,66:148:99:1574,0,2099	19	0	2	0
chr11	66555204	66555204	G	A	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon6:c.G632A:p.R211Q	.	.	48	1464	9	1	0	11	0.00374277	.	.	3210751	ACTN3-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00798722	0.0056	0.0013	0.0005	0.0001	0	3e-05	0.0033	0.0393	0.0047994	742	154602	rs200452235	0.0024	0.0024	0.0014	0.0035	0.0377	0.0024	0.0024	0.0366	0.0361	0.0017	0.0002	0	0	3.745e-05	0.0019	8.184e-05	0.0026	0.0377	0.0019	0.0019	0.0013	0.0024	0.0406	0.0017	0.0016	0.0359	0.0341	0.0018	0	6.554e-05	0	0.0004	0	0	0.0001	0.0009	0.0406	.	.	.	0.424	0.24054	T	0.944	0.53183	P	0.752	0.56092	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.70175	.	.	.	.	.	.	.	0.010115027	0.00226	T	.	.	.	.	.	.	.	0.409533910539	0.40566	0.498815319218225	0.49802	.	.	0.53263258934	0.43405	T	0.303172	0.88914	T	-0.0605291	0.42826	T	0.168846	0.81342	D	.	.	.	0.931907	0.74605	D	0.35212743	0.57232	0.3293539	0.58815	0.35212743	0.57232	0.3293539	0.58814	-6.781	0.52418	T	.	.	0.083	0.12938	B	.;.	.;.	4.580915	0.72362	25.8	0.99885112663059028	0.96049	0.70489	0.34611	D	AEFBI	0.585410	0.58385	D	.	.	.	.	.	.	0.999986212798643	0.51787	0.252514	0.04256	0	0.097471	0.02872	0	0.295636	0.05589	0	0.058706	0.01089	0	.	.	4.55	4.55	0.55429	4.256000	0.58601	5.909000	0.50995	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	14.867	0.70064	59	0.97452	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6362.11	34	chr11	66555204	.	G	A	6362.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.98;DP=1211;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.046;SOR=0.669	GT:AD:DP:GQ:PL	0/1:143,122:265:99:3071,0,3451	19	0	2	0
chr11	66705066	66705066	T	C	exonic	SPTBN2	.	nonsynonymous SNV	SPTBN2:NM_006946:exon15:c.A2210G:p.E737G,	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.302	B	0.145	B	0.014	N	0.987	D	0.575	N	0.57	T	-0.982	T	0.105	T	0.358	3.944	20.2	4.7	1.972	-0.143	13.279	0.128	0.137984592145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.164	0.31026	T	0.302	0.32608	B	0.145	0.33871	B	0.014460	0.28529	N	0.360187	0.987378	0.40580	D	0.97	0.24054	L	0.57	0.54347	T	-1.01	0.26639	N	0.089	0.07398	-0.9822	0.34491	T	0.105	0.38538	T	10	0.11580378	0.21827	T	0.137985	0.82048	D	0.128	0.35103	0.407	0.44066	0.361328159215	0.35739	0.26863934991022526	0.26776	0.482623129529	0.47225	0.609015822411	0.54176	T	0.186464	0.53977	T	-0.107011	0.35262	T	-0.39149	0.34377	T	0.429928123950958	0.30058	T	0.766923	0.39491	T	0.24004294	0.46902	0.13160156	0.31598	0.24004294	0.46902	0.13160156	0.31597	-4.51	0.31019	T	0.1494319475734284	0.17473	0.071	0.03964	B	.;.;.	.;.;.	2.390710	0.30700	18.52	0.99898874383398961	0.97124	0.31089	0.24249	N	AEFDBI	0.314528	0.41936	N	-0.35737268921465	0.27003	1.478103	-0.257065263401855	0.29529	1.655075	0.999971723356994	0.50053	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.7	4.7	0.58776	0.507000	0.22383	3.427000	0.38290	0.607000	0.46521	0.000000	0.06391	1.000000	0.68203	0.537000	0.29868	0.0:0.0:0.0:1.0	13.279	0.59636	231	0.90996	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	671.98	35	chr11	66705066	.	T	C	671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.809;DP=841;ExcessHet=0.0000;FS=2.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.289;SOR=1.101	GT:AD:DP:GQ:PL	0/1:31,25:56:99:686,0,783	20	0	1	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	1/2:2,26,14,0:42:99:1668,515,496,982,0,1002,1623,586,1056,1684	5	4	8	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,42:119:99:.:.:193,0,1095	8	0	12	1
chr11	67043756	67043756	G	A	exonic	SYT12	.	nonsynonymous SNV	SYT12:NM_001318775:exon4:c.G395A:p.R132H	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.972	D	0.525	P	0.000	D	1.000	D	0.895	L	-0.72	T	-0.445	T	0.280	T	0.745	5.256	33	5.4	2.536	7.870	16.687	0.536	.	.	0.00179712	0.0016	0	0.0003	0	0	3.003e-05	0.0011	0.0116	0.0013389	207	154602	rs550547042	0.0007	0.0007	0.0004	0.0009	0.0105	0.0006	0.0006	0.0099	0.0097	0	4.472e-05	0	2.519e-05	0	0.0005	3.597e-06	0.0007	0.0105	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	0	0	0.0081	0.082	0.33254	T	0.173	0.30143	T	0.972	0.57405	D	0.525	0.48375	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	-0.72	0.72994	T	-1.81	0.42575	N	0.761	0.75927	-0.4449	0.70568	T	0.280	0.65170	T	10	0.010840088	0.00239	T	.	.	.	0.536	0.80545	0.668	0.80602	0.875165545415	0.87394	0.611035905961792	0.61035	0.706081825482	0.61434	0.648913025856	0.59832	T	0.087023	0.37851	T	-0.157237	0.27188	T	0.0107587	0.71030	D	0.0793683438402858	0.09906	T	0.949605	0.80601	D	0.40605652	0.61150	0.31656867	0.57636	0.40605652	0.61150	0.31656867	0.57635	-4.846	0.35123	T	.	.	0.137	0.31330	B	.;.;.	.;.;.	4.864255	0.79626	27.1	0.99949250677431822	0.99931	0.99154	0.92024	D	AEFDGBI	0.901516	0.84830	D	0.536577959007732	0.69268	5.333012	0.605135919313311	0.75312	6.288327	0.999999999999968	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	7.990000	0.87862	2.875000	0.35292	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0:0.0:1.0:0.0	16.687	0.85171	148	0.94114	C2 domain|C2 domain;C2 domain|C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2793.11	34	chr11	67043756	.	G	A	2793.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.753;DP=917;ExcessHet=0.1072;FS=1.519;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=1.25;SOR=0.595	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1614,0,1587	19	0	2	0
chr11	67395783	67395783	G	A	exonic	RAD9A	.	nonsynonymous SNV	RAD9A:NM_001243224:exon3:c.G289A:p.G97S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.463	P	0.078	B	0.000	D	1.000	D	0.57	N	2.37	T	-1.070	T	0.028	T	0.515	1.940	12.44	4.82	2.406	5.407	15.218	0.128	0.0074793674666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.513	0.07425	T	0.662	0.06469	T	0.463	0.36407	P	0.078	0.28627	B	0.000155	0.49130	D	0.177217	0.999529	0.47407	D	1.7	0.43825	L	2.37	0.19450	T	-0.1	0.08495	N	0.577	0.59901	-1.0695	0.09523	T	0.028	0.12147	T	10	0.20826074	0.37150	T	0.007479	0.19846	T	0.128	0.35103	0.461	0.52916	0.27479166964	0.27093	0.32831627923835055	0.32744	0.187020584716	0.21015	0.464833498001	0.33971	T	0.199	0.55615	T	-0.103238	0.35888	T	-0.38607	0.35012	T	0.55640310049057	0.34719	D	0.763624	0.39028	T	0.38433218	0.59628	0.18065879	0.40879	0.38433218	0.59628	0.18065879	0.40878	-6.281	0.48571	T	.	.	0.107	0.20117	B	.;.	.;.	3.565741	0.50190	22.9	0.93205140694649857	0.22876	0.94432	0.61147	D	AEFDBHCI	0.621788	0.60635	D	-0.096507526907212	0.37545	2.185879	0.0891390389350326	0.43999	2.690356	0.999999999865429	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.82	4.82	0.61641	5.001000	0.63693	9.912000	0.82435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	15.218	0.72979	417	0.81662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1296.98	39	chr11	67395783	.	G	A	1296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.399e+00;DP=836;ExcessHet=0.0000;FS=1.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=1.52;SOR=0.919	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1311,0,1388	20	0	1	0
chr11	78226554	78226554	G	A	exonic	GAB2	.	nonsynonymous SNV	GAB2:NM_012296:exon4:c.C1004T:p.P335L	.	.	431	1085	6	0	0	6	0.00275735	.	.	3439539	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.892	P	0.198	B	0.036	U	1.000	D	0.27	N	1.89	T	-1.113	T	0.029	T	0.186	2.541	14.46	5.21	2.598	5.225	8.509	0.063	0.00630915363773	.	.	4.12e-05	0.0002	0	0	0	2.999e-05	0.0011	0	3.23e-05	5	154602	rs372231541	7.8e-05	7.798e-05	7.489e-05	8.115e-05	0.0005	6.601e-05	6.143e-05	0.0001	8.677e-05	0.0002	0	0.0001	0	0	0.0005	6.207e-05	0.0003	0.0002	0.0001	0.0001	0.0002	9.519e-05	0.0006	8.759e-05	7.333e-05	0.0002	9.223e-05	0.0002	0	0	0	0.0002	0	0	0.0001	0	0.0006	0.081	0.36912	T	0.106	0.37872	T	0.892	0.49086	P	0.198	0.36766	B	0.035907	0.24587	U	0.372415	0.999985	0.54805	D	1.245	0.31408	L	1.89	0.23688	T	-2.37	0.52289	N	0.248	0.28028	-1.1130	0.02824	T	0.029	0.12409	T	10	0.14926028	0.28250	T	0.006309	0.16580	T	0.063	0.18251	.	.	0.377839696382	0.37399	0.28096351686661153	0.28009	0.0530438299189	0.05851	0.514647245407	0.40874	T	0.460286	0.79753	T	-0.389402	0.02714	T	-0.500933	0.22251	T	0.0966180397718323	0.11981	T	0.866813	0.56740	D	0.042182	0.06351	0.057588156	0.10494	0.042182	0.06351	0.057588156	0.10493	-3.034	0.10552	T	.	.	0.078	0.06849	B	.;.	.;.	3.435876	0.47770	22.5	0.99620183514173588	0.75353	0.95243	0.63969	D	AEFBI	0.397258	0.47340	N	0.236986209343528	0.52999	3.470893	0.355984781685349	0.58868	4.060276	0.999995388541399	0.74766	0.706548	0.73137	0	0.596877	0.49441	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	5.295000	0.65488	8.633000	0.77861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0771:0.0:0.7695:0.1534	8.509	0.32367	635	0.64580	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	605.98	35	chr11	78226554	.	G	A	605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.570e-01;DP=767;ExcessHet=0.0000;FS=2.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=-1.873e+00;SOR=0.426	GT:AD:DP:GQ:PL	0/1:40,27:67:99:620,0,1020	20	0	1	0
chr11	82931910	82931910	G	A	exonic	DDIAS	.	nonsynonymous SNV	DDIAS:NM_001363481:exon5:c.G572A:p.R191K	.	.	434	1066	18	4	0	26	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	B	0.01	B	0.082	N	1.000	N	1.59	L	2.49	T	-1.008	T	0.024	T	0.109	0.505	6.736	-1.55	-0.501	0.116	5.350	0.021	.	0.0019	0.00439297	0.0031	0.0002	0.0010	0	0.0002	0.0020	0.0022	0.0139	0.0028654	443	154602	rs143776868	0.0023	0.0023	0.0019	0.0027	0.0143	0.0022	0.0022	0.0136	0.0133	0.0002	0.0014	0.0010	5.038e-05	0.0010	0.0029	0.0016	0.0024	0.0143	0.0017	0.0017	0.0014	0.0020	0.0139	0.0015	0.0014	0.0112	0.0103	0.0002	0	0.0017	0.0014	0.0002	0.0008	0.0136	0.0019	0.0014	0.0139	0.291	0.14945	T	0.296	0.20615	T	0.051	0.22415	B	0.01	0.14941	B	0.081662	0.20852	N	0.521773	1	0.19072	N	.	.	.	2.49	0.14531	T	-0.91	0.24460	N	0.075	0.04913	-1.0082	0.27479	T	0.024	0.10148	T	9	0.0038969219	0.00074	T	.	.	.	0.021	0.04004	.	.	0.0762999501168	0.06990	0.09629855801019349	0.09561	0.0389555431681	0.04147	.	.	.	0.063198	0.32114	T	-0.630402	0.00095	T	-0.684781	0.06696	T	0.00185487795829065	0.00019	T	0.341266	0.07400	T	0.03574267	0.04264	0.045065105	0.05982	0.03574267	0.04264	0.045065105	0.05981	-2.621	0.06664	T	.	.	0.098	0.18580	B	.;.	.;.	0.781434	0.11518	8.115	0.79226924549518085	0.12647	0.08489	0.14411	N	AEFBI	0.077336	0.15579	N	-0.857207152831639	0.11873	0.5754471	-0.903660520719352	0.12007	0.6151954	0.128260463694081	0.17036	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.15	-1.55	0.08105	0.132000	0.15716	0.646000	0.20366	0.676000	0.76740	0.029000	0.20367	0.839000	0.27283	0.989000	0.64315	0.3495:0.0:0.5265:0.124	5.350	0.15334	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2710.11	42	chr11	82931910	.	G	A	2710.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.57;DP=934;ExcessHet=0.1072;FS=1.504;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=-2.410e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:89,46:135:99:1039,0,2354	19	0	2	0
chr11	89911625	89911625	G	A	exonic	TRIM49D1;TRIM49D2	.	nonsynonymous SNV	TRIM49D2:NM_001105522:exon7:c.C1321T:p.P441S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0116206600767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.609e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.15355	T	0.368	0.34048	B	0.196	0.36635	B	.	.	.	.	.	.	.	.	.	.	0.23	0.59717	T	.	.	.	0.103	0.08786	.	.	.	.	.	.	.	0.10021639	0.18236	T	0.011621	0.29427	T	.	.	.	.	0.484329738948	0.48065	0.023997859099898197	0.02350	.	.	0.4497590065	0.31911	T	0.00337	0.02778	T	0.0885086	0.63021	D	-0.11064	0.62560	T	.	.	.	0.582942	0.21167	T	0.039336503	0.05411	0.12020047	0.29010	0.039336503	0.05410	0.12020047	0.29009	-1.161	0.01196	T	.	.	0.140	0.30713	B	.;.;.	.;.;.	0.231253	0.06126	2.570	0.85897972896946051	0.16182	0.00085	0.00571	N	AEFI	0.019251	0.00652	N	.	.	.	.	.	.	1.40883468105342E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.89	-3.78	0.04049	-0.574000	0.05960	-6.999000	0.01255	-0.603000	0.04608	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.4696:0.0:0.3222:0.2082	2.830	0.05159	741	0.52966	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	70.32	7	chr11	89911625	.	G	A	70.32	.	AC=1;AF=0.250;AN=4;BaseQRankSum=0.090;DP=205;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2156;MLEAC=4;MLEAF=1.00;MQ=26.51;MQRankSum=1.15;QD=8.79;ReadPosRankSum=-6.190e-01;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,6:8:14:0|1:89911625_G_A:65,0,14:89911625	1	0	1	19
chr11	92834959	92834959	C	T	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon15:c.C9961T:p.L3321F	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.999	D	.	.	1.000	D	2.415	M	0.5	T	-0.332	T	0.374	T	0.875	5.154	32	5.46	2.539	4.015	19.323	0.390	.	.	0.00199681	0.0024	0.0002	0.0001	0.0001	0	0	0.0013	0.0180	0.0018305	283	154602	rs536574701	0.0009	0.0009	0.0005	0.0012	0.0137	0.0008	0.0008	0.0131	0.0128	5.974e-05	0	0	2.52e-05	0	0	1.349e-05	0.0012	0.0137	0.0005	0.0005	0.0002	0.0007	0.0135	0.0004	0.0003	0.0108	0.0099	2.405e-05	0	0	0	0.0002	0	0	0	0.0009	0.0135	0.003	0.72154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.37	0.68279	M	0.5	0.55608	T	-3.67	0.70191	D	0.854	0.85027	-0.3317	0.74084	T	0.374	0.73235	T	9	0.012008369	0.00260	T	.	.	.	0.390	0.70603	0.626	0.76141	0.644451754692	0.64151	0.19162493607141526	0.19080	.	.	0.49831533432	0.38592	T	0.340969	0.70993	T	-0.0842843	0.39016	T	0.118479	0.78135	D	0.104251166920106	0.12818	T	.	.	.	0.416816	0.61880	0.5188466	0.72200	0.416816	0.61880	0.5188466	0.72201	-8.861	0.66798	D	.	.	0.330	0.55201	B	.;.	.;.	4.452645	0.69226	25.3	0.99888032813530514	0.96281	0.90928	0.52528	D	AEFBHCI	0.601479	0.59371	D	0.748039792776086	0.82775	7.847186	0.715573983267351	0.83562	8.05414	0.999999999999913	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.46	5.46	0.80021	4.087000	0.57395	5.921000	0.51166	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.323	0.94238	851	0.35303	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1033.98	34	chr11	92834959	.	C	T	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.560;DP=780;ExcessHet=0.0000;FS=1.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=0.500;SOR=0.667	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1048,0,1366	20	0	1	0
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,44,67:119:99:.:.:4173,2624,2955,1658,0,1529	0	17	3	0
chr11	96383433	96383433	T	A	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon5:c.A827T:p.D276V	.	.	458	1062	1	1	0	3	0.00141044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.911	P	0.61	P	0.364	N	0.545	D	1.67	L	1.82	T	-1.054	T	0.102	T	0.463	0.308	5.671	4.26	0.886	1.013	8.627	0.164	0.012058582462	7.7e-05	0.00159744	0.0008	0	0	0	0.0002	0.0006	0.0013	0.0030	0.0005951	92	154602	rs142006540	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0020	0.0019	3.008e-05	2.267e-05	0	0	1.943e-05	0.0012	0.0002	0.0004	0.0023	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0002	0.0029	0.0024	2.407e-05	0	6.557e-05	0	0	9.434e-05	0	0.0003	0.0014	0.0043	0.035	0.43708	D	0.055	0.46862	T	0.567	0.50336	P	0.125	0.51087	B	0.364244	0.04322	N	1.396580	0.545124	0.32086	D	1.905	0.50856	L	1.82	0.25018	T	-0.35	0.12847	N	0.166	0.17691	-1.0538	0.13359	T	0.102	0.37669	T	10	0.005124688	0.00111	T	0.012059	0.30290	T	0.164	0.42212	.	.	0.343101102393	0.33919	0.08475500214235983	0.08409	0.152145718627	0.17166	0.280084699392	0.07504	T	9.15E-4	0.00471	T	-0.443207	0.01238	T	-0.41558	0.31584	T	0.0464989082390584	0.04875	T	0.754824	0.38041	T	0.14441048	0.33148	0.08001095	0.18063	0.14441048	0.33148	0.08001095	0.18062	-4.421	0.36037	T	.	.	0.107	0.19879	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.006771	0.13856	10.41	0.93458889882916274	0.23244	0.14893	0.18640	N	AEFDBI	0.059469	0.11235	N	-0.354893297711856	0.27093	1.48373	-0.459215239968957	0.23287	1.269185	0.989210235947187	0.31756	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.39	4.26	0.49832	1.044000	0.29939	1.691000	0.28071	0.352000	0.19979	0.002000	0.15269	0.042000	0.21616	0.321000	0.24994	0.0:0.0885:0.0:0.9115	8.627	0.33061	.	.	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1731.98	36	chr11	96383433	.	T	A	1731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.620e-01;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=0.498;SOR=0.718	GT:AD:DP:GQ:PL	0/1:78,74:152:99:1746,0,1885	20	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.991	D	1.5	L	.	.	-0.882	T	0.177	T	0.291	2.535	14.44	5.88	2.782	0.899	9.319	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,24,15:146:69:.:.:317,0,3174,69,3218,4059	4	0	6	5
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.266	B	0.000	D	0.997	D	1.5	L	.	.	-0.909	T	0.128	T	0.715	2.775	15.24	5.88	2.782	0.899	9.319	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	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	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,24,15:146:69:.:.:317,0,3174,69,3218,4059	4	0	6	5
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.001	D	0.672	N	0	N	.	.	-1.080	T	0.039	T	0.091	0.671	7.594	3.03	0.836	0.969	1.144	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4333	6124.11	112	chr11	106010660	.	C	G	6124.11	.	AC=13;AF=0.433;AN=30;BaseQRankSum=-2.788e+00;DP=3216;ExcessHet=11.8493;FS=276.657;InbreedingCoeff=-0.6434;MLEAC=16;MLEAF=0.533;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=2.98;SOR=12.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,51:158:99:.:.:519,0,3166	2	0	13	6
chr11	116832770	116832770	G	A	exonic	APOC3	.	stopgain	APOC3:NM_000040:exon4:c.G186A:p.W62X,	Apolipoprotein C-III deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.002	N	1.000	D	.	.	.	.	.	.	.	.	.	4.354	22.9	5.04	2.620	4.235	13.742	.	.	.	.	8.241e-06	9.617e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs764210608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.002341	0.36727	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.885	0.88356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41509	0.90759	D	0.54	0.95419	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	9.393812	0.98866	41	0.99508909665050094	0.68499	0.91006	0.52677	D	AEFBHCI	0.360176	0.45024	N	0.732347419422902	0.81754	7.596509	0.569287951235151	0.72749	5.85924	0.999999998625164	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	4.292000	0.58826	11.679000	0.94198	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.619000	0.31870	0.0:0.0:1.0:0.0	13.742	0.62337	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3418.08	33	chr11	116832770	.	G	A	3418.08	.	AC=2;AF=0.048;AN=42;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.36;SOR=0.956	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3446,327,0	20	1	0	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,146:146:99:.:.:6280,6280,6280,445,445,0	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,146:146:99:.:.:6280,6280,6280,445,445,0	1	0	0	0
chr11	118979538	118979538	C	T	exonic	FOXR1	.	nonsynonymous SNV	FOXR1:NM_181721:exon4:c.C481T:p.R161W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.732	P	0.802	N	0.969	N	1.435	L	-3.69	D	0.449	D	0.863	D	0.223	3.397	17.47	5.61	2.826	2.724	15.512	0.298	0.05275276355	.	.	1.655e-05	0	0	0	0	3.009e-05	0	0	1.29e-05	2	154602	rs782323250	5.474e-06	5.472e-06	4.085e-06	6.878e-06	1.161e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	1.161e-05	1.314e-05	1.313e-05	0	2.689e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.255	0.16848	T	0.103	0.38305	T	0.999	0.77913	D	0.732	0.55359	P	0.802382	0.09314	N	0.915017	0.968843	0.25782	N	1.28	0.32218	L	-3.69	0.95317	D	-1.07	0.27876	N	0.296	0.33469	0.449	0.89819	D	0.863	0.95428	D	10	0.29891497	0.47446	T	0.052753	0.65197	D	0.298	0.61843	0.398	0.42590	0.980950227017	0.98074	0.3291238264703134	0.32825	0.674197627447	0.59628	0.301548540592	0.10632	T	0.081038	0.36503	T	-0.0285629	0.47626	T	-0.171148	0.57338	T	0.825289666652679	0.48168	D	.	.	.	0.15567625	0.35173	0.18678345	0.41871	0.15567625	0.35172	0.18678345	0.41870	-5.552	0.42351	T	.	.	0.086	0.10594	B	.	.	3.690600	0.52580	23.3	0.9983421011464596	0.91542	0.89570	0.50119	D	AEFDBHCI	0.381755	0.46389	N	0.551893450310405	0.70198	5.466357	0.585669433512503	0.73911	6.048654	0.99999998879028	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.658952	0.52864	0	0.562822	0.20929	0	.	.	5.61	5.61	0.85347	2.254000	0.42868	2.735000	0.34419	0.599000	0.40250	0.931000	0.32310	0.831000	0.27213	0.998000	0.85391	0.0:1.0:0.0:0.0	15.512	0.75526	195	0.92448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2808.08	33	chr11	118979538	.	C	T	2808.08	.	AC=2;AF=0.048;AN=42;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.91;SOR=0.786	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2836,264,0	20	1	0	0
chr11	119678715	119678715	C	T	exonic	NECTIN1	.	nonsynonymous SNV	NECTIN1:NM_002855:exon2:c.G130A:p.G44S	Cleft lip/palate-ectodermal dysplasia syndrome, Autosomal recessive;Orofacial cleft 7, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	712647	Cleft_lip/palate-ectodermal_dysplasia_syndrome|NECTIN1-related_disorder|not_provided	MONDO:MONDO:0009151,MedGen:C2931488,OMIM:225060,Orphanet:3253|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	1.0	D	0.995	D	0.000	D	1.000	D	3.335	M	-1.45	T	0.561	D	0.689	D	0.846	5.516	35	5.68	2.686	7.484	18.781	0.806	0.209447419473	0.0007	0.00219649	0.0021	0.0005	0.0011	0.0001	0	0.0012	0.0025	0.0087	0.0016753	259	154602	rs137991779	0.0012	0.0012	0.0009	0.0015	0.0078	0.0011	0.0011	0.0073	0.0071	0.0002	0.0009	0.0123	7.559e-05	0	0.0031	0.0005	0.0018	0.0078	0.0010	0.0010	0.0009	0.0012	0.0077	0.0009	0.0008	0.0057	0.0050	0.0001	0	0.0008	0.0141	0.0002	0	0	0.0007	0	0.0077	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.45	0.80899	T	-4.69	0.81431	D	0.866	0.87481	0.561	0.91386	D	0.689	0.89250	D	9	0.023116529	0.00596	T	0.209447	0.87200	D	0.806	0.93699	.	.	0.832257761187	0.83066	0.9110220412842944	0.91076	1.25681484625	0.81929	0.715103507042	0.69333	T	0.598472	0.87096	D	0.0336364	0.56208	T	0.280386	0.87142	D	0.117694740931287	0.14202	T	0.941306	0.78096	D	0.7720753	0.82173	0.66245943	0.80217	0.7788311	0.82584	0.65708184	0.79920	-9.876	0.73492	D	.	.	0.399	0.60592	A	.;.;.	.;.;.	5.265870	0.88415	29.6	0.99893014663966739	0.96666	0.98949	0.89045	D	AEFBI	0.937156	0.93454	D	0.91456571891542	0.92455	11.43289	0.863603834756471	0.93785	12.27857	0.999999999999993	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	7.565000	0.81337	7.651000	0.63703	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	18.781	0.91898	877	0.30165	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	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	0.04762	2470.08	42	chr11	119678715	.	C	T	2470.08	.	AC=2;AF=0.048;AN=42;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.08;SOR=1.833	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2498,231,0	20	1	0	0
chr11	123194924	123194926	AGA	-	exonic	CLMP	.	nonframeshift deletion	CLMP:NM_024769:exon1:c.15_17del:p.L9del,	Congenital short bowel syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001423	22	154602	rs764915660	8.487e-05	8.482e-05	5.857e-05	0.0001	0.0013	7.213e-05	6.8e-05	0.0011	0.0011	0	0	0	0	0	0	8.996e-07	0.0001	0.0013	2.626e-05	2.625e-05	0	5.369e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1362.94	33	chr11	123194923	.	GAGA	G	1362.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.626e+00;DP=754;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.10;ReadPosRankSum=-3.440e-01;SOR=0.472	GT:AD:DP:GQ:PL	0/1:24,35:59:99:1377,0,861	20	0	1	0
chr11	124893896	124893896	G	C	exonic	ROBO4	.	nonsynonymous SNV	ROBO4:NM_001301088:exon9:c.C1033G:p.H345D	.	.	.	.	.	.	.	.	.	.	.	2852274	Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.967	D	0.339	B	0.033	N	0.937	N	1.79	L	0.31	T	-0.827	T	0.179	T	0.418	3.372	17.37	4.34	1.065	0.876	6.846	0.168	.	.	0.00179712	0.0019	0	0.0005	0	0	0	0.0025	0.0134	0.0014553	225	154602	rs564107859	0.0008	0.0008	0.0004	0.0012	0.0133	0.0008	0.0008	0.0127	0.0124	0	0	0	0	0	0	8.995e-07	0.0005	0.0133	0.0003	0.0003	0.0001	0.0005	0.0100	0.0002	0.0002	0.0077	0.0069	0	0	0	0	0	0	0	0	0	0.0100	0.016	0.54683	D	0.074	0.42976	T	0.967	0.56408	D	0.339	0.42346	B	0.032669	0.24997	N	0.199993	0.937181	0.26897	N	2.25	0.63811	M	-0.06	0.63568	T	-3.57	0.74900	D	0.478	0.51315	-0.8268	0.53505	T	0.179	0.52489	T	10	0.009160548	0.00207	T	.	.	.	0.168	0.42943	0.533	0.64148	0.826573637083	0.82493	0.710328768850515	0.70974	0.252503775226	0.27817	0.44716706872	0.31557	T	0.416921	0.76972	T	-0.378082	0.03203	T	-0.304834	0.44212	T	0.128825045592809	0.15272	T	0.663934	0.27277	T	0.20672439	0.42856	0.21828784	0.46526	0.18518434	0.39869	0.23475762	0.48700	-13.498	0.91310	D	0.4629729112839392	0.54483	0.384	0.58680	A	.;.	.;.	2.832449	0.37348	20.5	0.99176000961216138	0.54527	0.79549	0.39440	D	AEFDBCI	0.277898	0.39231	N	0.0690820658567355	0.45024	2.766043	0.140912105925916	0.46663	2.90864	0.999998670871226	0.74766	0.542737	0.22433	0	0.59043	0.45803	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	5.31	4.34	0.51267	0.982000	0.29137	.	.	0.676000	0.76740	0.890000	0.31197	1.000000	0.68203	0.930000	0.46718	0.1509:0.0:0.8491:0.0	6.846	0.23169	715	0.56137	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	946.98	34	chr11	124893896	.	G	C	946.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.335e+00;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.430e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:28,40:68:99:961,0,743	20	0	1	0
chr11	125612999	125612999	G	C	exonic	STT3A	.	nonsynonymous SNV	STT3A:NM_001278504:exon12:c.G1100C:p.G367A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.001	B	0.004	B	0.000	D	1.000	D	-0.345	N	.	.	-0.948	T	0.131	T	0.851	1.918	12.37	6.17	2.941	7.909	20.490	0.280	0.008836792202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.846	0.03201	T	0.892	0.03380	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.815	0.01551	N	.	.	.	1.26	0.01024	N	0.772	0.77132	-0.9481	0.41296	T	0.131	0.44208	T	9	0.5165927	0.62401	D	0.008837	0.23318	T	0.318	0.64008	0.51	0.60693	0.255117706274	0.25116	0.8207025359332422	0.82027	0.83572146944	0.67812	0.904278516769	0.96900	D	0.039098	0.25071	T	0.284845	0.81728	D	0.171384	0.81493	D	0.885698854923248	0.53605	D	0.938006	0.76748	D	0.4173917	0.61918	0.31930044	0.57892	0.4173917	0.61918	0.31930044	0.57892	-2.926	0.09406	T	0.07998313954784604	0.03991	0.083	0.09094	B	.;.;.;.	.;.;.;.	3.109673	0.41939	21.4	0.90700356389800407	0.19951	0.99844	0.99801	D	AEFGBI	0.972089	0.99399	D	0.265342204560899	0.54402	3.605816	0.447971937770451	0.64586	4.717254	0.999999999999835	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	9.883000	0.98528	11.721000	0.94817	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.490	0.99205	521	0.74284	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1596.98	33	chr11	125612999	.	G	C	1596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.422e+00;DP=802;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=-8.900e-02;SOR=0.550	GT:AD:DP:GQ:PL	0/1:35,63:98:99:1611,0,886	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	0/2:10,0,12:22:99:465,495,916,0,420,384	3	7	5	0
chr11	134345283	134345283	G	C	exonic	GLB1L2	.	nonsynonymous SNV	GLB1L2:NM_001370463:exon5:c.G465C:p.Q155H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	445.98	18	chr11	134345283	.	G	C	445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.44;DP=423;ExcessHet=0.0000;FS=8.316;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.30;ReadPosRankSum=-3.860e-01;SOR=3.467	GT:AD:DP:GQ:PL	0/1:8,12:20:99:460,0,208	20	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,22:93:99:0|1:4591261_G_C:142,0,1465:4591261	3	0	18	0
chr12	6540550	6540550	G	A	exonic	IFFO1	.	nonsynonymous SNV	IFFO1:NM_001330324:exon9:c.C1613T:p.P538L	.	.	416	1069	35	2	0	39	0.0179146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.563	P	0.028	B	0.887	N	0.986	D	0.69	N	-2.27	D	-1.097	T	0.047	T	0.277	3.429	17.59	3.09	1.264	4.359	11.148	0.096	0.0133974944623	0.0035	0.00199681	0.0035	0.0012	0.0026	0	0.0022	0.0042	0.0045	0.0048	0.0030271	468	154602	rs139792267	0.0024	0.0024	0.0022	0.0026	0.0257	0.0024	0.0023	0.0223	0.0210	0.0011	0.0028	0.0213	0	0.0015	0.0257	0.0018	0.0047	0.0039	0.0024	0.0024	0.0025	0.0023	0.0029	0.0022	0.0021	0.0019	0.0018	0.0008	0	0.0024	0.0239	0	0.0022	0.0272	0.0022	0.0085	0.0029	0.013	0.53900	D	0.067	0.44501	T	0.001	0.07471	B	0.001	0.04355	B	0.887219	0.08713	N	0.946895	0.986481	0.40439	D	0	0.06538	N	-2.57	0.90332	D	-0.93	0.25118	N	0.226	0.27673	-1.0969	0.04487	T	0.047	0.19998	T	10	0.005678326	0.00126	T	0.013397	0.32774	T	0.138	0.37187	.	.	0.751694653358	0.74944	0.7574403315536291	0.75692	0.545570971901	0.51584	0.456590890884	0.32844	T	0.018523	0.14916	T	-0.278165	0.10863	T	-0.172349	0.57228	T	0.0236246190789405	0.01098	T	0.808019	0.47619	T	0.05590625	0.10929	0.056011453	0.09932	0.05590625	0.10928	0.056011453	0.09931	-4.361	0.29023	T	.	.	0.072	0.07841	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.094287	0.60998	24.3	0.99615930279789366	0.75112	0.32711	0.24652	N	ALL	0.621563	0.60621	D	0.034920992093561	0.43451	2.637636	0.0985941487877732	0.44478	2.72883	0.999999999989447	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.594344	0.31042	0	0.591603	0.36755	0	.	.	3.98	3.09	0.34677	4.472000	0.59921	6.748000	0.56502	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0885:0.0:0.9115:0.0	11.148	0.47667	740	0.53092	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	877.98	36	chr12	6540550	.	G	A	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=1.76;SOR=0.602	GT:AD:DP:GQ:PL	0/1:39,37:76:99:892,0,909	20	0	1	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	2/3:3,0,25,22,0:50:99:1631,1687,1877,738,911,882,862,1013,0,972,1687,1877,911,1013,1877	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	2/3:3,0,25,22,0:50:99:1631,1687,1877,738,911,882,862,1013,0,972,1687,1877,911,1013,1877	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	2/3:3,0,25,22,0:50:99:1631,1687,1877,738,911,882,862,1013,0,972,1687,1877,911,1013,1877	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	2/3:3,0,25,22,0:50:99:1631,1687,1877,738,911,882,862,1013,0,972,1687,1877,911,1013,1877	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:33,0,0,33,0,0,0:66:99:.:.:1231,1330,2692,1330,2692,2692,0,1361,1361,1257,1330,2692,2692,1361,2692,1330,2692,2692,1361,2692,2692,1330,2692,2692,1361,2692,2692,2692	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:33,0,0,33,0,0,0:66:99:.:.:1231,1330,2692,1330,2692,2692,0,1361,1361,1257,1330,2692,2692,1361,2692,1330,2692,2692,1361,2692,2692,1330,2692,2692,1361,2692,2692,2692	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:33,0,0,33,0,0,0:66:99:.:.:1231,1330,2692,1330,2692,2692,0,1361,1361,1257,1330,2692,2692,1361,2692,1330,2692,2692,1361,2692,2692,1330,2692,2692,1361,2692,2692,2692	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:33,0,0,33,0,0,0:66:99:.:.:1231,1330,2692,1330,2692,2692,0,1361,1361,1257,1330,2692,2692,1361,2692,1330,2692,2692,1361,2692,2692,1330,2692,2692,1361,2692,2692,2692	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:33,0,0,33,0,0,0:66:99:.:.:1231,1330,2692,1330,2692,2692,0,1361,1361,1257,1330,2692,2692,1361,2692,1330,2692,2692,1361,2692,2692,1330,2692,2692,1361,2692,2692,2692	1	0	2	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	0/1:131,31,0:162:99:486,0,4052,879,4145,5025	4	3	11	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,138,0:138:99:1|1:11353413_G_A:5270,414,0,5270,414,5270:11353413	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,62,0:62:99:1|1:11353413_G_A:2757,187,0,2757,187,2757:11353413	0	8	4	7
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD,	.	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	26110.08	283	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	26110.08	.	AC=8;AF=0.444;AN=18;BaseQRankSum=2.31;DP=5960;ExcessHet=0.0002;FS=4.944;InbreedingCoeff=0.1416;MLEAC=12;MLEAF=0.667;MQ=48.22;MQRankSum=-2.223e+00;QD=32.60;ReadPosRankSum=-2.244e+00;SOR=0.850	GT:AD:DP:GQ:PL	1/1:6,206:212:99:6101,587,0	4	3	2	12
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	734.67	33	chr12	12477735	.	C	T,*	734.67	.	AC=1,4;AF=0.025,0.100;AN=40;BaseQRankSum=3.48;DP=1239;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,4;MLEAF=0.025,0.100;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=-1.694e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/2:44,0,56:100:99:2116,2248,4086,0,1838,1666	15	0	1	1
chr12	14424747	14424747	G	A	exonic	ATF7IP	.	nonsynonymous SNV	ATF7IP:NM_001286514:exon2:c.G832A:p.E278K	.	.	437	1081	3	1	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.004	B	0.011	B	0.448	N	1.000	N	1.61	L	2.16	T	-1.045	T	0.038	T	0.238	1.366	10.50	3.42	1.323	0.096	4.727	0.017	.	0.0023	0.00738818	0.0066	0.0005	0.0048	0.0161	0.0119	0.0040	0.0066	0.0147	0.0062936	973	154602	rs2231908	0.0056	0.0056	0.0054	0.0058	0.0132	0.0055	0.0055	0.0125	0.0123	0.0009	0.0040	0.0058	0.0114	0.0094	0.0016	0.0049	0.0057	0.0132	0.0044	0.0044	0.0039	0.0049	0.0148	0.0041	0.0040	0.0122	0.0112	0.0006	0	0.0037	0.0075	0.0148	0.0115	0	0.0042	0.0090	0.0128	0.005	0.63226	D	0.285	0.23029	T	0.001	0.09854	B	0.003	0.11217	B	0.447527	0.12549	N	0.732867	1	0.08975	N	1.175	0.29870	L	2.12	0.23884	T	0.22	0.29114	N	0.055	0.02861	-1.0446	0.15942	T	0.038	0.16203	T	10	0.002712816	0.00042	T	.	.	.	0.017	0.02790	.	.	0.377143385212	0.37329	0.10561298275841698	0.10491	0.380324370331	0.39403	0.260844439268	0.04991	T	0.007964	0.16293	T	-0.531306	0.00377	T	-0.523637	0.19927	T	0.0151401533584377	0.00330	T	0.752925	0.40508	T	0.06725881	0.14548	0.05915245	0.11054	0.06725881	0.14548	0.05915245	0.11054	-5.335	0.40415	T	.	.	0.071	0.22825	B	.;.;.;.;.;.	.;.;.;.;.;.	1.920081	0.24388	16.38	0.93794750339308131	0.23760	0.08274	0.14224	N	AEFBI	0.045918	0.07565	N	-0.705733435733765	0.15860	0.803059	-0.736701423087965	0.16049	0.8472101	0.965485888128367	0.28834	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.39	3.42	0.38259	0.119000	0.15456	3.213000	0.36811	0.676000	0.76740	0.000000	0.06391	0.998000	0.33993	0.911000	0.44643	0.1204:0.0:0.6744:0.2053	4.727	0.12326	889	0.27310	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6332.11	34	chr12	14424747	.	G	A	6332.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.042;DP=1234;ExcessHet=0.1072;FS=1.770;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.472;SOR=0.881	GT:AD:DP:GQ:PL	0/1:109,114:223:99:3249,0,2965	19	0	2	0
chr12	14460626	14460626	A	T	exonic	ATF7IP	.	nonsynonymous SNV	ATF7IP:NM_001286514:exon9:c.A2287T:p.T763S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	B	0.019	B	0.063	N	0.879	D	0.69	N	2.09	T	-1.014	T	0.025	T	0.093	2.066	12.87	-2.01	-0.113	1.580	8.068	0.032	0.00754625162538	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs774754166	1.094e-05	1.094e-05	2.722e-06	1.925e-05	0.0002	6.48e-06	5.24e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	0	3.311e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.18889	T	0.326	0.18789	T	0.012	0.19556	B	0.015	0.18783	B	0.062741	0.22077	N	0.456359	0.879176	0.35715	D	0.9	0.23182	L	2.08	0.20255	T	0.34	0.14588	N	0.235	0.33687	-1.0143	0.25561	T	0.025	0.10910	T	9	0.0546906	0.05863	T	0.007546	0.20033	T	0.032	0.07718	0.115	0.02372	0.228066490088	0.22430	0.21715274332915255	0.21631	0.13624951485	0.15368	0.373093783855	0.21275	T	0.014276	0.12184	T	-0.471843	0.00828	T	-0.641247	0.09578	T	0.0222949326257607	0.00942	T	0.616838	0.23625	T	0.026614804	0.01741	0.04281301	0.05186	0.026614804	0.01740	0.04281301	0.05186	-3.469	0.16237	T	.	.	0.077	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.343983	0.17510	13.20	0.86590231282571706	0.16638	0.76592	0.37576	D	AEFDBHI	0.059709	0.11298	N	-0.658528858303904	0.17212	0.8837801	-0.525264917712009	0.21468	1.161503	0.00247477623575484	0.09461	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	-2.01	0.07003	1.582000	0.36177	2.900000	0.35444	-0.054000	0.16847	1.000000	0.71638	0.995000	0.32472	0.984000	0.60418	0.4829:0.0:0.0615:0.4556	8.068	0.29835	798	0.45050	ATF7-interacting protein , protein binding domain;.;.;.;ATF7-interacting protein , protein binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2646.98	37	chr12	14460626	.	A	T	2646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.54;ReadPosRankSum=-4.570e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:84,98:182:99:2661,0,2199	20	0	1	0
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,884,0:884:99:29117,2652,0,30628,2702,34808	1	12	6	0
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	1/1:0,841,0:841:99:28660,2524,0,29857,2609,33334	4	9	7	0
chr12	40486506	40486506	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:712,231,0,0:943:99:0|1:40486506_A_C:7274,0,29162,9418,29857,39274,9418,29857,39274,39274:40486506	3	0	1	10
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:712,231,0,0:943:99:0|1:40486506_A_C:7274,0,29162,9418,29857,39274,9418,29857,39274,39274:40486506	3	0	1	10
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17618.27	872	chr12	40486507	.	G	C,*	17618.27	.	AC=5,3;AF=0.227,0.136;AN=22;BaseQRankSum=2.35;DP=22462;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=7,4;MLEAF=0.318,0.182;MQ=57.78;MQRankSum=1.47;QD=2.22;ReadPosRankSum=-2.460e+00;SOR=1.005	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:723,231,0:954:99:0|1:40486506_A_C:7241,0,29624,9418,30319,39736:40486506	3	0	5	10
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	22747.23	860	chr12	40486514	.	G	A,*	22747.23	.	AC=7,2;AF=0.350,0.100;AN=20;BaseQRankSum=1.88;DP=22874;ExcessHet=4.7172;FS=5.882;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.550,0.150;MQ=58.09;MQRankSum=0.489;QD=2.52;ReadPosRankSum=-6.295e+00;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:746,226,0:972:99:0|1:40486506_A_C:7054,0,30605,9300,31284,40584:40486506	1	0	7	11
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	5047.17	783	chr12	40487346	.	A	T	5047.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.800e-01;DP=23076;ExcessHet=1.1607;FS=22.206;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.88;MQRankSum=-2.407e+01;QD=0.77;ReadPosRankSum=2.86;SOR=3.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1027,76:1103:31:0|1:40487346_A_T:31,0,42759:40487346	15	0	5	1
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3734.3	783	chr12	40487347	.	G	C	3734.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.57;DP=22988;ExcessHet=0.6776;FS=25.637;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=56.93;MQRankSum=-2.135e+01;QD=0.76;ReadPosRankSum=3.46;SOR=3.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1026,15:1041:34:0|1:40487346_A_T:34,0,42764:40487346	16	0	4	1
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1579	6434.31	783	chr12	40487354	.	G	A	6434.31	.	AC=6;AF=0.158;AN=38;BaseQRankSum=6.93;DP=23251;ExcessHet=1.7912;FS=22.206;InbreedingCoeff=-0.2000;MLEAC=6;MLEAF=0.158;MQ=56.97;MQRankSum=-2.438e+01;QD=0.84;ReadPosRankSum=5.99;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:995,87:1082:99:.:.:466,0,30684	13	0	6	2
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:971,0,0,2:973:99:.:.:6044,0,40125,2545,40296,42812,5758,40430,40624,46218	4	0	6	1
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	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:971,0,0,2:973:99:.:.:6044,0,40125,2545,40296,42812,5758,40430,40624,46218	4	0	6	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	47580.64	785	chr12	40487443	.	A	G,ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47580.64	.	AC=6,9;AF=0.167,0.250;AN=36;BaseQRankSum=-4.103e+00;DP=24007;ExcessHet=17.4423;FS=3.030;InbreedingCoeff=-0.6471;MLEAC=7,10;MLEAF=0.194,0.278;MQ=56.96;MQRankSum=-2.803e+01;QD=3.55;ReadPosRankSum=-2.836e+00;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:936,63,0:999:99:.:.:5686,0,38009,2703,38263,40981	3	0	6	3
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,452,0,0:453:99:1|1:40488224_A_G:18307,1352,0,18309,1359,18316,18309,1359,18316,18316:40488224	3	6	5	3
chr12	50080626	50080626	A	G	exonic	ASIC1	.	nonsynonymous SNV	ASIC1:NM_020039:exon9:c.A1334G:p.H445R,	.	.	423	1098	1	0	0	1	0.000455166	.	.	713566	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.94	T	0.002	B	0.006	B	0.138	N	1.000	N	.	.	0.27	T	-1.008	T	0.034	T	0.097	4.206	21.8	2.95	0.543	0.031	6.788	0.051	.	0.0090	0.00778754	0.0021	0.0233	0.0009	0	0	0	0.0011	0	0.0020246	313	154602	rs115122265	0.0007	0.0007	0.0007	0.0006	0.0237	0.0006	0.0006	0.0224	0.0218	0.0237	0.0013	0	0	0	0.0005	8.993e-06	0.0016	2.319e-05	0.0071	0.0071	0.0073	0.0068	0.0241	0.0067	0.0066	0.0229	0.0224	0.0241	0	0.0036	0	0	0	0	2.94e-05	0.0085	0.0006	0.462	0.08685	T	0.178	0.29639	T	0.002	0.09854	B	0.006	0.12133	B	0.137647	0.02859	N	1.999930	1	0.08975	N	.	.	.	0.27	0.59176	T	-0.12	0.08809	N	0.07	0.04307	-1.0083	0.27448	T	0.034	0.14464	T	9	0.0022660792	0.00033	T	.	.	.	0.051	0.14325	.	.	0.421947164513	0.41814	0.19186479994969716	0.19104	1.31590279658	0.83328	0.309869408607	0.11887	T	.	.	.	-0.597835	0.00150	T	-0.612601	0.11774	T	0.000957684318243927	0.00009	T	0.365463	0.08501	T	.	.	.	.	.	.	.	.	-2.878	0.08925	T	.	.	0.075	0.05623	B	.	.	0.764625	0.11347	7.963	0.98141551778059877	0.38605	0.14257	0.18307	N	AEFBI	0.104017	0.20823	N	-0.877460917343344	0.11380	0.5488815	-0.848127707390556	0.13332	0.6910654	0.923842742838758	0.26758	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.616125	0.45549	0	.	.	4.46	2.95	0.33285	-0.303000	0.08249	-0.410000	0.09352	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.836000	0.39433	0.6697:0.0:0.0:0.3303	6.788	0.22869	209	0.91859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1421.98	33	chr12	50080626	.	A	G	1421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.018e+00;DP=852;ExcessHet=0.0000;FS=3.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.54;ReadPosRankSum=-3.090e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:85,64:149:99:1436,0,2286	20	0	1	0
chr12	51291931	51291931	C	G	exonic	BIN2	.	nonsynonymous SNV	BIN2:NM_001364781:exon8:c.G1013C:p.R338P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.997	D	0.884	P	0.112	N	0.992	N	1.04	L	-0.35	T	0.301	D	0.838	D	0.657	1.338	10.39	3.19	1.316	0.667	7.880	0.417	0.0544976934409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.331	0.18505	T	.	.	.	.	.	.	0.112037	0.19375	N	0.534209	0.991911	0.23963	N	.	.	.	-0.4	0.69287	T	-0.11	0.08653	N	0.266	0.33030	0.301	0.87581	D	0.838	0.94567	D	10	0.245125	0.41755	T	0.054498	0.65878	D	0.417	0.72705	.	.	0.800418088792	0.79855	.	.	.	.	0.441181719303	0.30738	T	0.032078	0.22330	T	0.069648	0.60805	D	-0.137732	0.60314	T	0.773840248584747	0.44671	D	0.815918	0.47089	T	.	.	.	.	.	.	.	.	-5.157	0.38502	T	.	.	0.273	0.50690	B	.;.	.;.	2.377800	0.30519	18.46	0.98723678899467138	0.45245	0.43984	0.27219	N	AEFDGBHCI	0.220228	0.34501	N	-0.0329738568526593	0.40366	2.395975	-0.139306572010089	0.33822	1.938837	0.999999994882695	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.08	3.19	0.35720	0.376000	0.20265	0.212000	0.15973	0.599000	0.40250	0.115000	0.23085	0.011000	0.20116	0.127000	0.19450	0.0:0.8885:0.0:0.1115	7.880	0.28779	369	0.84396	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2017.98	35	chr12	51291931	.	C	G	2017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e+00;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=-1.030e-01;SOR=0.747	GT:AD:DP:GQ:PL	0/1:47,84:131:99:2032,0,1074	20	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.928	P	0.503	P	0.000	D	0.817	N	1.76	L	-2.82	D	0.033	D	0.626	D	0.12	2.608	14.68	2.46	0.518	0.299	7.062	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2647	805.0	65	chr12	51706661	.	G	C	805.0	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-2.321e+00;DP=1362;ExcessHet=4.7172;FS=136.953;InbreedingCoeff=-0.3697;MLEAC=10;MLEAF=0.294;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=1.14;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,27:77:99:.:.:186,0,756	8	0	9	4
chr12	52248734	52248734	G	A	exonic	KRT7	.	nonsynonymous SNV	KRT7:NM_005556:exon9:c.G1384A:p.A462T,	.	.	421	1087	13	1	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.001	B	0.0	B	.	.	1.000	N	0.06	N	-1.58	D	-1.097	T	0.009	T	0.115	0.462	6.509	-1.63	-0.015	0.126	4.163	0.095	.	0.0002	0.0277556	0.0130	0.0001	0.0007	0.0952	0	7.866e-05	0.0085	0.0496	0.0114099	1764	154602	rs74761279	0.0054	0.0054	0.0044	0.0064	0.0914	0.0053	0.0053	0.0889	0.0878	0.0002	0.0003	0	0.0914	0	0.0017	0.0001	0.0074	0.0433	0.0051	0.0051	0.0037	0.0065	0.0972	0.0048	0.0047	0.0902	0.0874	0.0002	0	0.0003	0	0.0972	0	0	7.352e-05	0.0038	0.0510	1.0	0.00964	T	0.344	0.17804	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	-1.58	0.81987	D	0.3	0.04091	N	0.075	0.04913	-1.0971	0.04460	T	0.009	0.03227	T	9	0.0016668141	0.00020	T	.	.	.	0.095	0.27398	.	.	.	.	0.4400526626391532	0.43922	0.269543108968	0.29473	0.259349256754	0.04814	T	0.056403	0.30278	T	-0.550562	0.00289	T	-0.476768	0.24791	T	0.000785969789610126	0.00007	T	0.241376	0.03476	T	0.018106438	0.00332	0.047727853	0.06937	0.018106438	0.00332	0.047727853	0.06937	-3.105	0.11353	T	.	.	0.067	0.02518	B	.	.	0.170227	0.05595	2.048	0.78760455704777255	0.12441	0.02893	0.07682	N	AEFDGBCI	0.048208	0.08201	N	-1.40721045940161	0.02575	0.1138847	-1.41359339509129	0.03115	0.1446979	0.999999789266397	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.493711	0.08198	1	0.645665	0.59343	0	.	.	4.32	-1.63	0.07900	0.108000	0.15232	.	.	-0.606000	0.04599	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3509:0.0:0.387:0.2621	4.163	0.09755	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	0.04762	1603.11	36	chr12	52248734	.	G	A	1603.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.114;DP=796;ExcessHet=0.1072;FS=2.321;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-1.770e-01;SOR=0.933	GT:AD:DP:GQ:PL	0/1:22,29:51:99:769,0,531	19	0	2	0
chr12	52472120	52472120	C	T	exonic	KRT6C	.	nonsynonymous SNV	KRT6C:NM_173086:exon2:c.G701A:p.R234H,	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, Autosomal dominant	.	4	1509	9	0	0	9	0.00297324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.739	P	0.315	B	0.003	N	0.684	D	3.215	M	-2.69	D	0.324	D	0.494	T	0.195	2.760	15.19	1.97	0.739	0.500	10.931	0.391	.	0.0091	0.014976	0.0055	0.0271	0.0012	0.0001	0	1.5e-05	0.0033	0.0223	0.0050387	779	154602	rs12298348	0.0022	0.0022	0.0018	0.0026	0.0293	0.0021	0.0021	0.0278	0.0272	0.0293	0.0016	0	0.0001	0	0.0007	2.972e-05	0.0032	0.0220	0.0092	0.0091	0.0093	0.0092	0.0277	0.0088	0.0087	0.0263	0.0258	0.0277	0	0.0031	0	0	0	0	0.0001	0.0063	0.0260	0.029	0.45756	D	0.048	0.48594	D	0.739	0.42933	P	0.315	0.41566	B	0.003051	0.35512	N	0.120124	0.683699	0.33258	D	3.59	0.93643	H	-2.69	0.90451	D	-3.57	0.68999	D	0.233	0.26233	0.324	0.87941	D	0.494	0.80816	T	10	0.0150616765	0.00316	T	.	.	.	0.391	0.70684	.	.	0.913023533516	0.91214	0.0873713472090093	0.08670	0.265220192054	0.29077	0.42339476943	0.28303	T	0.504278	0.82343	D	-0.336793	0.05613	T	-0.234926	0.51292	T	0.0784015270947247	0.09781	T	0.29767	0.05533	T	0.17274044	0.37982	0.14110956	0.33614	0.17274044	0.37982	0.14110956	0.33613	-6.521	0.50449	T	0.2396590508107426	0.32462	0.098	0.16275	B	.	.	2.431327	0.31276	18.69	0.99589067448130575	0.73513	0.26957	0.23141	N	AEFBI	0.080426	0.16261	N	-0.120609971236893	0.36496	2.110345	-0.281446563340952	0.28708	1.602832	2.43079738508779E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.89	1.97	0.25278	0.315000	0.19200	.	.	0.580000	0.29708	0.566000	0.27473	0.000000	0.08366	0.028000	0.12845	0.0:0.9016:0.0:0.0984	10.931	0.46432	678	0.60190	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4118.98	36	chr12	52472120	.	C	T	4118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=1800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.55;MQRankSum=0.301;QD=12.75;ReadPosRankSum=-6.150e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:160,163:323:99:4133,0,4100	20	0	1	0
chr12	52472156	52472156	C	A	exonic	KRT6C	.	nonsynonymous SNV	KRT6C:NM_173086:exon2:c.G665T:p.R222M,	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, Autosomal dominant	.	5	1507	7	3	0	13	0.00429468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.948	P	0.837	P	0.001	D	0.626	D	4.16	H	-3.14	D	0.773	D	0.873	D	0.569	2.696	14.98	0.988	0.246	3.091	5.209	0.585	.	7.7e-05	0.0071885	0.0037	0.0002	0.0003	0.0002	0	0	0.0012	0.0257	0.0030853	477	154602	rs145109130	0.0015	0.0015	0.0009	0.0022	0.0236	0.0015	0.0015	0.0228	0.0224	0.0001	0	0	8.417e-05	0	0.0007	4.802e-06	0.0017	0.0236	0.0009	0.0009	0.0005	0.0013	0.0273	0.0008	0.0007	0.0233	0.0218	9.757e-05	0	7.315e-05	0	0	0	0	0	0	0.0273	0.0	0.91255	D	0.0	0.92824	D	0.948	0.53620	P	0.837	0.59984	P	0.000588	0.43095	D	0.093954	0.625803	0.32745	D	4.435	0.98769	H	-3.14	0.92884	D	-4.93	0.81755	D	0.679	0.68603	0.773	0.94073	D	0.873	0.95772	D	10	0.014105052	0.00297	T	.	.	.	0.585	0.83360	.	.	0.950245543017	0.94972	0.4227468652787686	0.42191	0.722490668574	0.62282	0.592970728874	0.51914	T	0.740988	0.92826	D	-0.00838544	0.50491	T	0.0296135	0.72253	D	0.208226002218476	0.20860	T	0.60384	0.22664	T	0.6016188	0.72778	0.49737337	0.70936	0.6016188	0.72779	0.49737337	0.70936	-14.071	0.93284	D	0.8175681854124669	0.89125	0.716	0.73608	P	.	.	3.937120	0.57590	23.9	0.96189453821093907	0.28985	0.57912	0.30501	D	AEFBI	0.343479	0.43928	N	0.144519980486231	0.48554	3.066155	-0.147154310587684	0.33518	1.91813	3.7575152155532E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.89	0.988	0.18914	2.645000	0.46287	.	.	0.580000	0.29708	0.033000	0.20612	0.000000	0.08366	0.994000	0.71098	0.0:0.6333:0.1709:0.1958	5.209	0.14629	678	0.60190	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4355.98	123	chr12	52472156	.	C	A	4355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.498e+00;DP=2255;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.39;MQRankSum=-6.780e-01;QD=11.55;ReadPosRankSum=0.352;SOR=0.644	GT:AD:DP:GQ:PL	0/1:203,174:377:99:4370,0,5411	20	0	1	0
chr12	52544728	52544728	G	C	exonic	KRT71	.	nonsynonymous SNV	KRT71:NM_033448:exon9:c.C1376G:p.T459S,	.	.	424	1097	1	0	0	1	0.000455581	.	.	725156	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.003	B	0.002	U	0.953	N	-0.92	N	-1.34	T	-1.011	T	0.086	T	0.096	-0.865	0.513	4.07	1.978	2.316	12.112	0.196	.	0.0069	0.00678914	0.0023	0.0249	0.0010	0	0	0.0002	0.0012	0.0001	0.0020957	324	154602	rs112987888	0.0008	0.0008	0.0009	0.0007	0.0251	0.0008	0.0008	0.0237	0.0232	0.0251	0.0014	0	0	0	0.0018	0.0001	0.0024	0.0001	0.0075	0.0075	0.0075	0.0075	0.0254	0.0071	0.0070	0.0242	0.0236	0.0254	0	0.0035	0	0	0	0.0102	0.0002	0.0047	0.0002	0.686	0.04353	T	0.862	0.03390	T	0.002	0.09854	B	0.003	0.08700	B	0.001859	0.37840	U	0.000000	0.953301	0.26409	N	1.185	0.30054	L	-1.34	0.79944	T	-0.54	0.16598	N	0.207	0.22998	-1.0113	0.26510	T	0.086	0.33522	T	10	0.003920436	0.00075	T	.	.	.	0.196	0.47777	0.336	0.32491	0.749575828606	0.74732	0.42121164281473006	0.42037	0.0808308102781	0.09095	0.455821931362	0.32739	T	0.015601	0.13056	T	-0.427646	0.01532	T	-0.368136	0.37106	T	0.0334402228060897	0.02544	T	0.0394961	0.00273	T	0.10383771	0.24543	0.13950782	0.33283	0.10381668	0.24538	0.14571397	0.34547	-3.039	0.10607	T	0.07426321399509274	0.03204	0.064	0.01600	B	.	.	2.007315	0.25509	16.79	0.6856506733244554	0.08697	0.81948	0.41254	D	AEFDGBHCI	0.236590	0.35902	N	-0.61030243881601	0.18633	0.9690115	-0.3687034221204	0.25936	1.429414	0.999996731040295	0.74766	0.422189	0.06491	0	0.563428	0.19063	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	4.07	4.07	0.46726	2.539000	0.45377	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	12.112	0.53147	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	605.98	34	chr12	52544728	.	G	C	605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=843;ExcessHet=0.0000;FS=1.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.83;ReadPosRankSum=-9.910e-01;SOR=1.139	GT:AD:DP:GQ:PL	0/1:14,22:36:99:620,0,304	20	0	1	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,31,0:92:99:0|1:52949249_G_A:1118,0,2468,1302,2561,3863:52949249	0	0	20	0
chr12	52951595	52951595	G	A	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon4:c.G772A:p.E258K	Cirrhosis, cryptogenic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3272969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.027	B	0.013	B	0.194	N	0.875	N	0.39	N	-2.49	D	-0.600	T	0.439	T	0.173	0.755	8.001	3.59	2.311	0.857	13.487	0.211	0.0406890940888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347876514	9.577e-06	9.577e-06	4.084e-06	1.513e-05	2.987e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	2.236e-05	0	0	0	0	8.993e-06	3.312e-05	0	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.94	0.03030	T	0.007	0.19556	B	0.013	0.16460	B	0.193793	0.16776	N	0.513353	0.874503	0.28153	N	0.38	0.12130	N	-2.49	0.89145	D	0.69	0.02195	N	0.193	0.23506	-0.5999	0.64822	T	0.439	0.77765	T	10	0.09586775	0.17154	T	0.040689	0.59514	D	0.211	0.50185	.	.	0.564807590308	0.56144	0.33711777426591916	0.33624	0.609901705907	0.55697	0.367310762405	0.20445	T	0.321506	0.69260	T	-0.0969311	0.36933	T	-0.294146	0.45341	T	0.285273253917694	0.24392	T	0.725627	0.33984	T	0.15977314	0.35872	0.13554487	0.32450	0.15977314	0.35872	0.13554487	0.32449	-8.963	0.67458	D	0.10965201983919194	0.09178	0.206	0.43227	B	.;.;.	.;.;.	2.327061	0.29806	18.24	0.90549147926805984	0.19804	0.30971	0.24219	N	AEFBHCI	0.812927	0.73553	D	-0.592304290303385	0.19177	1.00163	-0.478043993983517	0.22760	1.237794	0.999999999490694	0.74766	0.722319	0.85440	0	0.588764	0.42986	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	3.59	3.59	0.40253	0.872000	0.27688	.	.	0.596000	0.33519	0.024000	0.20007	0.999000	0.35428	0.971000	0.54645	0.0:0.0:1.0:0.0	13.487	0.60826	764	0.49969	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	145.98	43	chr12	52951595	.	G	A	145.98	.	AC=4;AF=0.250;AN=16;BaseQRankSum=-1.195e+00;DP=797;ExcessHet=0.7148;FS=135.113;InbreedingCoeff=-0.3042;MLEAC=5;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=0.495;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,8:49:2:0|1:52951595_G_A:2,0,1422:52951595	4	0	4	13
chr12	53059304	53059304	C	T	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.C1693T:p.R565W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.656	N	1.000	D	1.04	L	-3.53	D	0.550	D	0.838	D	0.74	2.953	15.84	3.71	1.043	0.667	10.173	0.600	0.746690576993	.	.	0.0003	0	0.0012	0	0	0	0	0.0022	0.0001229	19	154602	rs765692676	5.101e-05	6.567e-05	2.672e-05	7.657e-05	0.0009	4.074e-05	3.745e-05	0.0007	0.0006	0	0.0003	0	0	0	0	9.595e-07	5.579e-05	0.0009	2.012e-05	2.629e-05	0	4.129e-05	0.0007	5.35e-06	2.48e-06	0.0002	9.51e-05	0	0	0	0	0	0	0	0	0	0.0007	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.976	0.82059	D	0.655828	0.10471	N	0.826565	0.990673	0.47320	D	.	.	.	-3.57	0.94904	D	-3.64	0.69835	D	0.516	0.61933	0.550	0.91239	D	0.838	0.94596	D	10	0.12027064	0.22777	T	0.746691	0.97977	D	0.600	0.84183	0.423	0.46693	0.507987536778	0.50438	0.4837670075374105	0.48296	0.851762941149	0.68571	0.789791226387	0.80410	T	0.530826	0.83761	D	-0.0234292	0.48364	T	0.158191	0.80695	D	0.247059943586125	0.22741	T	0.956054	0.84151	D	0.2579935	0.48847	0.30871886	0.56889	0.2579935	0.48847	0.30871886	0.56888	-5.243	0.40200	T	.	.	0.173	0.37858	B	.;.;.;.;.;.	.;.;.;.;.;.	3.928888	0.57408	23.9	0.99901090243988599	0.97275	0.75968	0.37225	D	AEFDBCI	0.503896	0.53569	D	0.271417824523276	0.54706	3.635487	0.227030740637135	0.51353	3.318533	0.999806113484734	0.43304	0.460665	0.09802	0	0.514364	0.08380	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.63	3.71	0.41733	0.356000	0.19918	3.876000	0.40213	0.599000	0.40250	0.842000	0.30316	1.000000	0.68203	0.331000	0.25224	0.1997:0.8003:0.0:0.0	10.173	0.42096	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	725.98	44	chr12	53059304	.	C	T	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=789;ExcessHet=0.0000;FS=3.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.087;SOR=1.422	GT:AD:DP:GQ:PL	0/1:27,27:54:99:740,0,632	20	0	1	0
chr12	53060185	53060185	C	G	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.C2574G:p.I858M	.	.	.	.	.	.	.	.	.	.	.	2851285	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.343	B	0.206	B	0.567	N	1.000	N	0.55	N	-3.44	D	-0.142	T	0.647	D	0.16	1.128	9.598	0.47	0.293	-0.065	3.187	0.229	0.101116127344	.	0.00139776	0.0009	0	0	0	0	0	0	0.0078	0.000705	109	154602	rs529213852	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0043	0	2.278e-05	0	2.531e-05	0	0	2.717e-06	0.0004	0.0048	0.0002	0.0002	0.0002	0.0002	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0.0005	0.0054	0.002	0.72154	D	0.287	0.26066	T	0.189	0.33512	B	0.206	0.37138	B	0.566585	0.05455	N	1.208050	1	0.81001	D	.	.	.	-3.44	0.94584	D	0.08	0.06868	N	0.295	0.35832	-0.1421	0.79113	T	0.647	0.87699	D	10	0.0026643276	0.00041	T	0.101116	0.77381	D	0.229	0.52916	0.216	0.13643	0.168933306366	0.16529	0.34258885477681245	0.34171	0.625801839417	0.56741	0.622317194939	0.56056	T	0.106938	0.41871	T	-0.292662	0.09371	T	-0.190414	0.55551	T	0.0490850858734888	0.05338	T	0.867613	0.56877	D	0.13931097	0.32186	0.081424415	0.18503	0.13931097	0.32186	0.081424415	0.18503	-3.755	0.20521	T	.	.	0.201	0.44809	B	.;.;.;.;.	.;.;.;.;.	1.771646	0.22528	15.66	0.94445526800701107	0.24873	0.21850	0.21546	N	AEFGBCI	0.182403	0.30973	N	-0.459620517811465	0.23415	1.257259	-0.375851592857987	0.25719	1.416105	0.928691601717746	0.26939	0.67177	0.52595	0	0.514364	0.08380	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	4.76	0.47	0.15957	-0.227000	0.09131	0.483000	0.18825	0.580000	0.29708	0.000000	0.06391	0.997000	0.33255	0.993000	0.69303	0.3641:0.4285:0.0:0.2073	3.187	0.06209	761	0.50382	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	881.98	37	chr12	53060185	.	C	G	881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.00;ReadPosRankSum=-5.100e-02;SOR=0.699	GT:AD:DP:GQ:PL	0/1:21,28:49:99:896,0,554	20	0	1	0
chr12	55365429	55365429	G	A	exonic	OR6C75	.	nonsynonymous SNV	OR6C75:NM_001005497:exon1:c.G319A:p.V107M,	.	.	.	.	.	.	.	.	.	.	.	2383630	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.76	P	0.77	P	0.002	U	1.000	N	1.355	L	4.07	T	-1.129	T	0.024	T	0.255	3.001	16.01	4.32	2.734	-0.217	13.219	0.102	0.00333610846567	0.0002	.	6.594e-05	0.0007	8.664e-05	0	0	0	0	0	5.17e-05	8	154602	rs199851582	3.147e-05	3.147e-05	3.267e-05	3.025e-05	0.0010	2.412e-05	2.158e-05	0.0007	0.0006	0.0010	0.0001	0	0	0	0	3.597e-06	8.279e-05	0	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	0.0004	0	0	0	0	1.471e-05	0.0005	0	0.011	0.55530	D	0.005	0.72224	D	0.76	0.43524	P	0.77	0.56828	P	0.002128	0.37183	U	0.000000	1	0.08975	N	1.11	0.28643	L	4.07	0.03033	T	-1.55	0.37566	N	0.187	0.20395	-1.1291	0.01826	T	0.024	0.10239	T	10	0.06939587	0.09950	T	0.003336	0.07421	T	0.102	0.29158	.	.	0.213573922156	0.20996	0.2139818249336312	0.21314	0.26967950493	0.29493	0.23079225421	0.02027	T	0.026181	0.19430	T	-0.521371	0.00432	T	-0.614426	0.11628	T	0.112329947307744	0.13664	T	0.483852	0.14720	T	0.20012867	0.41977	0.18727486	0.41949	0.20012867	0.41977	0.18727486	0.41948	-6.44	0.49821	T	.	.	0.192	0.41109	B	.;.	.;.	2.297888	0.29402	18.11	0.99813437132307314	0.89708	0.09145	0.14959	N	AEFHI	0.078079	0.15746	N	0.188653324518324	0.50653	3.253409	0.168977627917758	0.48157	3.035418	1.97140607919196E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	4.32	0.50899	-1.056000	0.03600	.	.	0.648000	0.52827	0.000000	0.06391	0.000000	0.08366	0.841000	0.39698	0.0:0.0:0.7582:0.2418	13.219	0.59301	762	0.50290	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1444.98	42	chr12	55365429	.	G	A	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.297;DP=881;ExcessHet=0.0000;FS=0.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-9.450e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:78,57:135:99:1459,0,2220	20	0	1	0
chr12	57628802	57628802	T	C	exonic	B4GALNT1	.	nonsynonymous SNV	B4GALNT1:NM_001276468:exon7:c.A748G:p.T250A	Spastic paraplegia 26, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	1.0	D	0.999	D	0.000	D	1.000	D	1.575	L	-0.92	T	-0.238	T	0.475	T	0.472	4.064	20.9	4.89	2.069	2.424	13.629	0.465	0.0948130551647	0.0002	0.000399361	3.296e-05	0.0003	0	0	0	1.499e-05	0	0	4.53e-05	7	154602	rs148118043	6.84e-06	6.84e-06	4.084e-06	9.625e-06	2.987e-05	3.46e-06	2.52e-06	1.94e-06	1.28e-06	2.987e-05	0	3.826e-05	0	1.872e-05	0	5.396e-06	0	1.159e-05	3.284e-05	3.281e-05	5.141e-05	1.343e-05	9.628e-05	1.26e-05	7.98e-06	3.244e-05	1.911e-05	9.628e-05	0	6.537e-05	0	0	0	0	0	0	0	0.161	0.27783	T	0.545	0.45961	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.053234	0.999987	0.54805	D	2.665	0.77964	M	-0.92	0.75108	T	-2.54	0.56144	D	0.364	0.40565	-0.2383	0.76670	T	0.475	0.79878	T	10	0.23328757	0.40343	T	0.094813	0.76317	D	0.465	0.76089	.	.	0.854738742074	0.85334	0.681173753741349	0.68056	0.72100061679	0.62208	0.386249750853	0.23140	T	0.461317	0.79813	T	-0.154485	0.27612	T	-0.180248	0.56501	T	0.966748237609863	0.67682	D	0.810019	0.47377	T	0.2822138	0.51260	0.3946047	0.64150	0.2822138	0.51260	0.3946047	0.64150	-4.146	0.26476	T	0.5540240695151677	0.62233	0.073	0.04889	B	.;.;.	.;.;.	5.076706	0.84698	28.4	0.99526199916130742	0.69591	0.76305	0.37413	D	AEFBCI	0.325903	0.42734	N	0.40506110340261	0.61700	4.374695	0.376688978250046	0.60131	4.197377	0.999335852541415	0.39185	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.89	4.89	0.63387	1.590000	0.36264	6.190000	0.54754	0.665000	0.62972	0.786000	0.29545	1.000000	0.68203	0.934000	0.47231	0.0:0.0:0.0:1.0	13.629	0.61654	246	0.90367	Glycosyltransferase 2-like;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1861.98	35	chr12	57628802	.	T	C	1861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.036e+00;DP=887;ExcessHet=0.0000;FS=1.184;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=0.809;SOR=0.794	GT:AD:DP:GQ:PL	0/1:87,85:172:99:1876,0,2172	20	0	1	0
chr12	70892825	70892825	C	T	exonic	PTPRR	.	nonsynonymous SNV	PTPRR:NM_002849:exon2:c.G211A:p.E71K,	.	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.0	B	0.731	U	1.000	N	0.345	N	3.94	T	-0.912	T	0.007	T	0.079	1.136	9.628	-2.76	-0.583	0.226	3.571	0.020	0.0125338330853	0.0003	0.000399361	0.0005	9.614e-05	0	0.0001	0	0.0003	0	0.0019	0.0003946	61	154602	rs200722098	0.0003	0.0003	0.0002	0.0004	0.0022	0.0003	0.0003	0.0019	0.0018	8.969e-05	0	0.0041	2.519e-05	0	0.0005	9.536e-05	0.0005	0.0022	0.0002	0.0002	0.0003	0.0002	0.0015	0.0002	0.0002	0.0007	0.0005	0.0001	0.0033	0	0.0023	0	9.448e-05	0	0.0002	0.0005	0.0015	0.342	0.12632	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.730884	0.06369	U	1.240670	1	0.08975	N	0.55	0.14455	N	3.94	0.03408	T	0.17	0.05125	N	0.116	0.10483	-0.9119	0.46620	T	0.007	0.02360	T	10	0.0082739	0.00188	T	0.012534	0.31184	T	0.020	0.03691	.	.	0.248417906384	0.24464	0.33146004115391026	0.33059	0.127839088004	0.14418	0.280235409737	0.07525	T	0.068234	0.33405	T	-0.68934	0.00042	T	-0.769441	0.02786	T	0.0215466549980477	0.00858	T	0.589941	0.21689	T	0.039905824	0.05599	0.045811728	0.06246	0.039905824	0.05598	0.045811728	0.06245	-3.553	0.17182	T	.	.	0.060	0.01011	B	.	.	0.482234	0.08519	5.279	0.98654873107447172	0.44247	0.06050	0.12020	N	AEFHCI	0.050690	0.08884	N	-1.11204997640791	0.06427	0.2958534	-1.14242947324733	0.06905	0.3339663	2.70873750868588E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.86	-2.76	0.05547	0.266000	0.18300	-0.035000	0.12744	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1491:0.2582:0.4382:0.1545	3.571	0.07470	778	0.48011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1781.98	33	chr12	70892825	.	C	T	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=825;ExcessHet=0.0000;FS=2.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=1.76;SOR=0.912	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1796,0,1634	20	0	1	0
chr12	101723803	101723803	T	C	exonic	CHPT1	.	nonsynonymous SNV	CHPT1:NM_020244:exon7:c.T1021C:p.F341L,	.	.	439	1078	5	0	0	5	0.00231374	.	.	713279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.999	D	0.000	D	1.000	D	2.24	M	0.98	T	-0.958	T	0.041	T	0.852	4.132	21.3	5.82	2.232	5.957	16.197	0.449	.	.	0.0121805	0.0064	9.872e-05	0.0045	0.0595	0.0083	0.0019	0.0056	0.0020	0.0057502	889	154602	rs79716906	0.0026	0.0026	0.0027	0.0025	0.0553	0.0025	0.0025	0.0534	0.0526	0.0001	0.0048	0	0.0553	0.0084	0.0008	0.0004	0.0033	0.0023	0.0032	0.0032	0.0027	0.0037	0.0528	0.0029	0.0029	0.0477	0.0457	0.0003	0	0.0023	0	0.0528	0.0085	0.0034	0.0008	0.0028	0.0027	0.047	0.40319	D	0.066	0.44501	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	0.97	0.42502	T	-5.45	0.85468	D	0.443	0.48872	-0.9577	0.39608	T	0.041	0.17742	T	10	0.008994997	0.00203	T	.	.	.	0.449	0.75004	0.527	0.63263	0.743900995116	0.74159	0.5961259794062993	0.59542	0.37876829736	0.39283	0.673043847084	0.63272	T	0.128441	0.45610	T	-0.173017	0.24780	T	0.0242584	0.71905	D	0.0853268804829277	0.10653	T	0.926107	0.72788	D	0.5238906	0.68482	0.5149301	0.71972	0.5238906	0.68483	0.5149301	0.71972	-7.375	0.56728	T	.	.	0.919	0.84099	P	.;.	.;.	4.566263	0.72000	25.8	0.9989161342196119	0.96589	0.97988	0.78670	D	AEBI	0.898233	0.84129	D	0.581336365593332	0.72009	5.738941	0.546072063663764	0.71123	5.607339	0.999998641349547	0.74766	0.732398	0.92422	0	0.659464	0.62310	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.82	5.82	0.92740	5.935000	0.69862	6.165000	0.54401	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	16.197	0.81846	463	0.78548	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	828.98	34	chr12	101723803	.	T	C	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.146;DP=751;ExcessHet=0.0000;FS=1.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=-1.970e-01;SOR=0.930	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,23:63:99:0|1:101723803_T_C:843,0,1563:101723803	20	0	1	0
chr12	102182562	102182562	G	A	exonic	PARPBP	.	nonsynonymous SNV	PARPBP:NM_001382726:exon6:c.G601A:p.V201M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.987	D	0.906	P	0.010	N	1.000	N	1.59	L	0.94	T	-1.049	T	0.070	T	0.434	1.853	12.16	4.31	2.613	1.946	10.645	0.137	.	7.7e-05	0.00678914	0.0035	0.0002	9.083e-05	0.0453	0	7.939e-05	0	0.0009	0.0030595	473	154602	rs12227879	0.0011	0.0011	0.0011	0.0011	0.0349	0.0011	0.0010	0.0334	0.0327	5.998e-05	4.493e-05	0	0.0349	0	0.0002	1.622e-05	0.0019	0.0011	0.0017	0.0017	0.0014	0.0020	0.0447	0.0015	0.0014	0.0400	0.0382	7.253e-05	0	0.0004	0	0.0447	0	0	0	0.0009	0.0023	0.07	0.54683	T	0.09	0.50226	T	0.987	0.61912	D	0.906	0.64351	P	0.009791	0.30200	N	0.379952	1	0.81001	D	2.52	0.73523	M	0.91	0.44856	T	-0.22	0.23808	N	0.311	0.35088	-1.0494	0.14565	T	0.070	0.28445	T	10	0.0035672188	0.00064	T	.	.	.	0.137	0.36984	.	.	0.597511309715	0.59430	0.23505839317972443	0.23420	.	.	0.476483225822	0.35574	T	0.025042	0.18806	T	-0.411932	0.01930	T	-0.330181	0.41448	T	0.0437215120191126	0.04370	T	0.853215	0.54193	D	0.044735014	0.07203	0.046624493	0.06537	0.044735014	0.07202	0.046624493	0.06537	-4.062	0.25643	T	.	.	0.099	0.37596	B	.;.;.;.	.;.;.;.	2.527913	0.32681	19.11	0.9958849739286002	0.73454	0.76262	0.37389	D	AEFBI	0.160833	0.28681	N	0.352514885882445	0.58870	4.062259	0.304956629817994	0.55829	3.745862	0.999655378897223	0.41424	0.730579	0.87903	0	0.633656	0.55848	0	0.653264	0.51672	0	0.648885	0.59868	0	.	.	5.26	4.31	0.50718	2.361000	0.43814	3.744000	0.39660	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.255000	0.23391	0.0:0.0:0.8089:0.1911	10.645	0.44807	549	0.72275	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	355.98	46	chr12	102182562	.	G	A	355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=-1.178e+00;SOR=0.706	GT:AD:DP:GQ:PL	0/1:33,17:50:99:370,0,864	20	0	1	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/3:26,0,0,6,0:32:99:165,243,1254,243,1254,1254,0,1011,1011,993,243,1254,1254,1011,1254	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/3:26,0,0,6,0:32:99:165,243,1254,243,1254,1254,0,1011,1011,993,243,1254,1254,1011,1254	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/3:26,0,0,6,0:32:99:165,243,1254,243,1254,1254,0,1011,1011,993,243,1254,1254,1011,1254	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/3:26,0,0,6,0:32:99:165,243,1254,243,1254,1254,0,1011,1011,993,243,1254,1254,1011,1254	6	1	11	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,14,0,0,0:142:99:0|1:103984920_G_GA:151,0,5316,540,5358,5898,540,5358,5898,5898,540,5358,5898,5898,5898:103984920	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,14,0,0,0:142:99:0|1:103984920_G_GA:151,0,5316,540,5358,5898,540,5358,5898,5898,540,5358,5898,5898,5898:103984920	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGAT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGAT:p.M184Ifs*9	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0098	0.0020	0.0024	0.0047	0.0021	0.0021	0.0044	0.0042	0.0028	0.0029	0.0047	0.0013	0.0014	0.0016	0.0020	0.0022	0.0047	1.988e-05	0.0002	0	4.073e-05	4.875e-05	5.29e-06	2.47e-06	8.08e-06	3.02e-06	4.875e-05	0	0	0	0	9.546e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,14,0,0,0:142:99:0|1:103984920_G_GA:151,0,5316,540,5358,5898,540,5358,5898,5898,540,5358,5898,5898,5898:103984920	10	0	6	0
chr12	103984922	103984922	-	TAAGGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGA;NM_003211:exon8:c.964+2->TAAGGA	.	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.532e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1501.77	35	chr12	103984922	.	T	G,TTAAGGA	1501.77	.	AC=6,1;AF=0.167,0.028;AN=36;BaseQRankSum=4.51;DP=2009;ExcessHet=2.5830;FS=10.970;InbreedingCoeff=-0.2537;MLEAC=7,1;MLEAF=0.194,0.028;MQ=58.73;MQRankSum=-1.024e+01;QD=1.56;ReadPosRankSum=-4.344e+00;SOR=2.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,14,0:142:99:0|1:103984920_G_GA:153,0,5315,540,5357,5897:103984920	11	0	6	3
chr12	103985730	103985730	-	GG	splicing	TDG	NM_001363612:exon8:c.661+2->GG;NM_003211:exon9:c.1090+2->GG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0014	0.0003	0.0006	0.0002	0.0008	0.0033	0.0030	3.84e-05	1	26028	rs749286024	0.0004	0.0057	0.0003	0.0004	0.0020	0.0004	0.0003	0.0017	0.0016	0.0007	0.0020	0.0004	0.0006	0.0007	0.0004	0.0002	0.0004	0.0014	4.013e-05	0.0061	5.227e-05	2.741e-05	9.835e-05	1.741e-05	1.146e-05	3.292e-05	1.943e-05	9.835e-05	0	0	0	0	9.669e-05	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	4718.56	63	chr12	103985730	.	T	TGGAGTTAAGAGGAG,TGGAGTTAAGAGGAGA,TGG	4718.56	.	AC=2,7,1;AF=0.048,0.167,0.024;AN=42;BaseQRankSum=3.76;DP=1742;ExcessHet=6.1002;FS=6.604;InbreedingCoeff=-0.3125;MLEAC=2,7,1;MLEAF=0.048,0.167,0.024;MQ=56.83;MQRankSum=-7.850e+00;QD=5.90;ReadPosRankSum=-3.934e+00;SOR=1.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:64,0,18,0:82:99:0|1:103985728_A_ATTGAGAGC:562,756,3444,0,2688,2634,756,3444,2688,3444:103985728	11	0	2	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N,	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.07895	56.42	83	chr12	110628923	.	G	A	56.42	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.935e+00;DP=1798;ExcessHet=0.3300;FS=174.600;InbreedingCoeff=-0.1262;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=0.585;SOR=9.641	GT:AD:DP:GQ:PL	0/1:112,35:147:11:11,0,1984	16	0	3	2
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,50:50:99:1|1:111598949_GGCT_G:2017,2017,2017,150,150,0:111598949	2	0	0	0
chr12	111781942	111781942	G	A	exonic	ALDH2	.	nonsynonymous SNV	ALDH2:NM_000690:exon2:c.G139A:p.D47N	Alcohol sensitivity, acute, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.031	B	0.021	B	0.000	N	1.000	D	1.81	L	2.34	T	-0.663	T	0.352	T	0.151	0.439	6.383	3.34	0.223	5.199	14.354	0.163	0.0137110114201	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1052140419	2.737e-06	2.736e-06	4.085e-06	1.375e-06	2.237e-05	6.4e-07	4.3e-07	.	.	0	2.237e-05	3.828e-05	0	0	0	0	1.656e-05	1.16e-05	6.578e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.485	0.08115	T	0.327	0.22359	T	0.026	0.19406	B	0.017	0.18140	B	0.000000	0.84330	N	0.048431	0.822938	0.34803	D	1.55	0.39271	L	2.34	0.76430	T	0.2	0.04861	N	0.323	0.36359	-0.6630	0.62144	T	0.352	0.71541	T	10	0.15540811	0.29292	T	0.013711	0.33318	T	0.163	0.42028	0.533	0.64148	0.284539287134	0.28064	0.5842174360410501	0.58350	0.29747313459	0.32131	0.39106374979	0.23819	T	0.339869	0.70896	T	-0.0932906	0.37533	T	-0.371782	0.36680	T	0.13856828212738	0.16151	T	0.80142	0.44736	T	0.5741423	0.71287	0.25112057	0.50717	0.5741423	0.71288	0.25112057	0.50716	-2.783	0.14048	T	.	.	0.121	0.25232	B	.;.;.	.;.;.	1.921113	0.24402	16.38	0.82654038441916544	0.14304	0.96535	0.69625	D	AEFDGBI	0.817826	0.73922	D	-0.725674381555968	0.15302	0.7699927	-0.680157551205322	0.17458	0.9283508	0.99999609219379	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.17	3.34	0.37357	4.689000	0.61410	2.936000	0.35641	-0.104000	0.15758	1.000000	0.71638	0.999000	0.35428	0.179000	0.21265	0.1351:0.0:0.8649:0.0	14.354	0.66280	364	0.84707	.;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	40	chr12	111781942	.	G	A	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.955;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=0.739;SOR=0.667	GT:AD:DP:GQ:PL	0/1:73,52:125:99:1212,0,1723	20	0	1	0
chr12	113149862	113149862	C	T	exonic	CFAP73	.	nonsynonymous SNV	CFAP73:NM_001144872:exon1:c.C5T:p.A2V,	.	.	422	1096	4	0	0	4	0.00182149	.	.	2816889	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.961	D	0.186	B	.	.	1.000	N	1.7	L	1.65	T	-1.018	T	0.046	T	0.224	3.360	17.32	0.322	0.060	0.346	1.780	0.111	0.0121149682219	0.0031	0.00159744	0.0032	0.0009	0.0049	0	0	0.0060	0.0054	0.0009	0.0011061	171	154602	rs61748300	0.0046	0.0044	0.0047	0.0045	0.0053	0.0045	0.0045	0.0052	0.0051	0.0009	0.0017	0.0064	0	0.0021	0.0026	0.0053	0.0045	0.0015	0.0030	0.0030	0.0032	0.0028	0.0052	0.0028	0.0027	0.0047	0.0046	0.0009	0	0.0012	0.0061	0	0.0021	0	0.0052	0.0028	0.0004	0.044	0.41096	D	0.048	0.48594	D	0.961	0.55431	D	0.186	0.36104	B	.	.	.	.	1	0.08975	N	.	.	.	1.65	0.27650	T	-1.94	0.45042	N	0.197	0.21710	-1.0182	0.24301	T	0.046	0.19720	T	9	0.0068102777	0.00155	T	0.012115	0.30386	T	0.111	0.31313	.	.	0.0762999501168	0.06990	0.32556365601465215	0.32469	.	.	0.489486694336	0.37367	T	0.043245	0.26440	T	-0.540612	0.00332	T	-0.546021	0.17710	T	0.02127944754485	0.00830	T	0.577542	0.20782	T	0.044798356	0.07223	0.07409671	0.16172	0.044798356	0.07222	0.07409671	0.16172	-6.928	0.53507	T	.	.	0.241	0.47513	B	.	.	3.004498	0.40157	21.1	0.99631315988652147	0.76081	0.06149	0.12130	N	ALL	0.041951	0.06446	N	-0.648126601244379	0.17515	0.9019454	-0.812214719459214	0.14200	0.740744	0.999986189849868	0.51787	0.59774	0.34471	0	0.59043	0.45803	0	0.587068	0.30358	0	0.63947	0.58350	0	.	.	3.3	0.322	0.15131	0.766000	0.26225	0.936000	0.22816	-0.347000	0.05626	0.524000	0.27143	0.385000	0.24635	0.085000	0.17524	0.3655:0.346:0.1787:0.1098	1.780	0.02847	696	0.58299	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1254.98	49	chr12	113149862	.	C	T	1254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.629e+00;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.07;SOR=0.714	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1269,0,1219	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:52,0,0,0,10,0:66:66:66,250,1501,250,1501,1501,250,1501,1501,1501,0,1232,1232,1232,1234,250,1501,1501,1501,1232,1501	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:52,0,0,0,10,0:66:66:66,250,1501,250,1501,1501,250,1501,1501,1501,0,1232,1232,1232,1234,250,1501,1501,1501,1232,1501	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:52,0,0,0,10,0:66:66:66,250,1501,250,1501,1501,250,1501,1501,1501,0,1232,1232,1232,1234,250,1501,1501,1501,1232,1501	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/4:52,0,0,0,10,0:66:66:66,250,1501,250,1501,1501,250,1501,1501,1501,0,1232,1232,1232,1234,250,1501,1501,1501,1232,1501	4	0	0	0
chr12	122788906	122788906	A	G	exonic	CCDC62	.	nonsynonymous SNV	CCDC62:NM_201435:exon5:c.A647G:p.K216R,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.197	B	0.119	B	0.000	N	1.000	D	0.765	N	1.41	T	-1.084	T	0.060	T	0.073	2.231	13.42	4.57	1.016	1.638	7.714	0.032	0.00770313040342	0.0002	0.000599042	0.0002	0	0	0	0	7.702e-05	0	0.0014	0.000194	30	154602	rs368758447	7.88e-05	7.867e-05	4.951e-05	0.0001	0.0012	6.668e-05	6.206e-05	0.0007	0.0006	0	2.539e-05	0	0	0	0.0012	2.617e-05	0.0001	0.0009	9.845e-05	9.842e-05	8.992e-05	0.0001	0.0012	6e-05	4.875e-05	0.0005	0.0004	0	0	0	0	0	0	0	0.0001	0	0.0012	0.284	0.16305	T	0.319	0.29945	T	0.197	0.29559	B	0.119	0.32162	B	0.000063	0.52346	N	0.068724	1	0.81001	D	1.545	0.39105	L	1.41	0.33630	T	-1.46	0.35792	N	0.137	0.13484	-1.0840	0.06591	T	0.060	0.25090	T	10	0.009296566	0.00210	T	0.007703	0.20431	T	0.032	0.07718	.	.	0.101711395817	0.09552	0.15741429879007968	0.15662	0.768795179903	0.64661	0.558340013027	0.47034	T	0.028747	0.20752	T	-0.566076	0.00233	T	-0.642253	0.09506	T	0.0642490367914116	0.07820	T	0.69953	0.30934	T	0.08098023	0.18584	0.07642673	0.16926	0.08098023	0.18584	0.07642673	0.16925	-6.739	0.52103	T	.	.	0.082	0.09094	B	.;.;.	.;.;.	2.401314	0.30853	18.56	0.9927367584079313	0.57661	0.55172	0.29797	D	AEFBI	0.072300	0.14424	N	-0.337866749713082	0.27721	1.52319	-0.205482385636585	0.31339	1.772621	0.442396857479021	0.20464	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.7	4.57	0.55860	1.850000	0.38968	6.943000	0.56998	0.756000	0.94297	0.671000	0.28357	1.000000	0.68203	0.994000	0.71098	0.9038:0.0:0.0962:0.0	7.714	0.27860	501	0.75956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1147.98	34	chr12	122788906	.	A	G	1147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.660e-01;DP=786;ExcessHet=0.0000;FS=1.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-7.000e-02;SOR=0.459	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1162,0,1069	20	0	1	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V	.	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.002	B	0.000	D	0.856	D	-0.44	N	1.65	T	-1.034	T	0.015	T	0.417	0.916	8.730	5.54	2.116	0.958	7.636	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3079.68	33	chr12	123313662	.	T	C	3079.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.800e-01;DP=866;ExcessHet=0.3300;FS=7.235;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.109;SOR=0.388	GT:AD:DP:GQ:PL	0/1:40,41:81:99:894,0,972	18	0	3	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/3:1,0,13,28,0:42:99:1703,1686,1732,1135,1174,1124,487,543,0,465,1686,1732,1174,543,1732	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/3:1,0,13,28,0:42:99:1703,1686,1732,1135,1174,1124,487,543,0,465,1686,1732,1174,543,1732	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/3:1,0,13,28,0:42:99:1703,1686,1732,1135,1174,1124,487,543,0,465,1686,1732,1174,543,1732	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/3:1,0,13,28,0:42:99:1703,1686,1732,1135,1174,1124,487,543,0,465,1686,1732,1174,543,1732	0	1	2	0
chr12	129074683	129074683	G	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.C2492T:p.S831L,	.	.	424	1039	58	1	0	60	0.0280636	.	.	702224	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.086	N	1.000	N	-0.69	N	3.72	T	-1.001	T	0.007	T	0.06	-2.185	0.005	-2.15	-0.525	-0.083	0.365	0.025	.	0.0065	0.00239617	0.0077	0.0013	0.0063	0	0.0074	0.0104	0.0132	0.0056	0.0074967	1159	154602	rs140762080	0.0084	0.0084	0.0083	0.0084	0.0534	0.0082	0.0082	0.0485	0.0466	0.0024	0.0068	0.0300	2.519e-05	0.0068	0.0534	0.0083	0.0102	0.0062	0.0069	0.0070	0.0070	0.0069	0.0090	0.0066	0.0065	0.0084	0.0082	0.0020	0	0.0075	0.0251	0.0002	0.0082	0.0578	0.0090	0.0128	0.0062	0.636	0.05452	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	0.086311	0.02407	N	1.932640	1	0.08975	N	-1.21	0.00826	N	2.93	0.09822	T	-0.43	0.17834	N	0.048	0.01999	-1.0013	0.29545	T	0.007	0.02360	T	9	0.005143881	0.00112	T	.	.	.	0.025	0.05312	.	.	0.043077524339	0.03247	0.15545238082319554	0.15466	0.210139789538	0.23496	0.204422041774	0.00596	T	0.004765	0.04174	T	-0.732468	0.00023	T	-0.817667	0.01500	T	0.000768673486481051	0.00007	T	0.107489	0.00805	T	0.028566381	0.02214	0.021326654	0.00188	0.028566381	0.02214	0.021326654	0.00188	-4.989	0.36720	T	.	.	0.054	0.00375	B	.;.	.;.	0.246131	0.06257	2.713	0.12776534085229038	0.00232	0.01860	0.05742	N	AEFBI	0.059169	0.11156	N	-1.48779133580879	0.01936	0.08496802	-1.48934994486925	0.02431	0.1117993	2.7351116049582E-5	0.03498	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	-2.15	0.06705	0.051000	0.14025	-0.599000	0.08280	-0.531000	0.04959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3823:0.2003:0.2121:0.2054	0.365	0.00345	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	0.04762	5278.11	33	chr12	129074683	.	G	A	5278.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.048;DP=1192;ExcessHet=0.1072;FS=4.047;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.89;SOR=0.742	GT:AD:DP:GQ:PL	0/1:138,149:287:99:3693,0,3549	19	0	2	0
chr12	131919375	131919375	G	A	exonic	ULK1	.	nonsynonymous SNV	ULK1:NM_003565:exon24:c.G2675A:p.R892Q,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.995	D	0.837	P	0.000	D	1.000	D	2.08	M	2.16	T	-0.748	T	0.203	T	0.649	4.953	28.8	5.3	2.472	4.404	13.284	0.096	0.0859787506983	.	0.000998403	0.0006	0	0.0002	0	0	0	0	0.0049	0.0004075	63	154602	rs555704782	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0036	0.0035	8.187e-05	2.881e-05	0	0	0	0	9.716e-06	0.0004	0.0040	0.0001	0.0001	4.062e-05	0.0002	0.0035	6.971e-05	5.613e-05	0.0021	0.0017	2.499e-05	0	0	0	0.0002	0	0	0	0	0.0035	0.02	0.49613	D	0.045	0.49390	D	0.995	0.67487	D	0.837	0.59984	P	0.000001	0.84330	D	0.000000	0.944318	0.81001	D	2.085	0.57729	M	0.99	0.41750	T	-1.94	0.45042	N	0.58	0.60156	-0.7481	0.58034	T	0.203	0.55961	T	10	0.011183947	0.00246	T	0.085979	0.74643	D	0.096	0.27654	0.23	0.15705	0.231005064126	0.22704	0.23046841099586254	0.22961	0.37549868753	0.39001	0.75691986084	0.75471	T	0.183798	0.53626	T	-0.315776	0.07249	T	-0.227205	0.52042	T	0.103241333185219	0.12710	T	0.889911	0.62289	D	0.269	0.50002	0.18587781	0.41727	0.269	0.50001	0.18587781	0.41726	-4.026	0.24192	T	.	.	0.081	0.08368	B	.	.	4.877276	0.79954	27.2	0.99938127983264269	0.99698	0.90429	0.51598	D	AEFBCI	0.385984	0.46652	N	0.63728017065146	0.75548	6.325488	0.623796356566034	0.76672	6.53433	0.949568991111712	0.27852	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	4.716000	0.61607	5.593000	0.49002	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0762:0.0:0.9238:0.0	13.284	0.59666	976	0.04745	Serine/threonine-protein kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	39	chr12	131919375	.	G	A	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.531;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-3.300e-02;SOR=0.609	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1206,0,1164	20	0	1	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,14,0,0,0:40:99:0|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC_A:417,0,1026,495,1071,1566,495,1071,1566,1566,495,1071,1566,1566,1566:132148890	4	2	6	0
chr12	132151614	132151614	C	T	exonic	NOC4L	.	nonsynonymous SNV	NOC4L:NM_024078:exon12:c.C1204T:p.R402W,	.	.	411	1089	22	0	0	22	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.973	D	0.002	N	0.999	D	1.44	L	1.93	T	-1.050	T	0.103	T	0.6	3.048	16.17	3.33	1.251	3.036	8.037	0.227	0.0403055087608	.	0.000798722	0.0011	0	0	0.0001	0	0.0003	0.0025	0.0065	0.0008861	137	154602	rs564077156	0.0006	0.0006	0.0004	0.0008	0.0068	0.0005	0.0005	0.0057	0.0055	0.0002	8.957e-05	0	2.52e-05	0	0.0068	0.0002	0.0007	0.0061	0.0003	0.0003	0.0003	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.405e-05	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0050	0.007	0.59928	D	0.01	0.65728	D	1.0	0.90584	D	0.973	0.72923	D	0.001739	0.38161	N	0.212320	0.998752	0.45389	D	1.525	0.38595	L	1.93	0.22881	T	-4.41	0.77391	D	0.553	0.57860	-1.0505	0.14258	T	0.103	0.37994	T	10	0.015860021	0.00333	T	0.040306	0.59303	D	0.227	0.52620	.	.	0.473695954338	0.46998	0.6784660378610355	0.67785	.	.	0.584664225578	0.50742	T	0.210057	0.57045	T	-0.39577	0.02468	T	-0.339077	0.40448	T	0.162138142495619	0.18028	T	0.985476	0.95021	D	0.1638014	0.36546	0.14800236	0.35003	0.1638014	0.36546	0.14800236	0.35002	-10.523	0.76979	D	.	.	0.107	0.20078	B	.	.	4.198713	0.63341	24.6	0.99902219995995878	0.97350	0.83246	0.42379	D	AEFDBCI	0.427510	0.49142	N	0.308786020710803	0.56598	3.824785	0.232705969795251	0.51670	3.34764	0.0127706625997711	0.12371	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.33	3.33	0.37245	3.279000	0.51374	2.731000	0.34388	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.011000	0.09372	0.2309:0.677:0.0:0.0922	8.037	0.29659	906	0.23090	CCAAT-binding factor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1124.98	65	chr12	132151614	.	C	T	1124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1026;ExcessHet=0.0000;FS=5.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=0.108;SOR=0.935	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1139,0,1251	20	0	1	0
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R	.	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0.895	L	6.67	T	-0.909	T	0.011	T	0.213	-0.150	3.266	1.25	0.363	1.238	4.153	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	884	0.28482	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3839.11	72	chr12	133057131	.	A	G	3839.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.190e-01;DP=1521;ExcessHet=0.1072;FS=1.683;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.254;SOR=0.675	GT:AD:DP:GQ:PL	0/1:98,91:189:99:2179,0,2438	19	0	2	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	0/2:24,7,25,0:56:99:761,459,935,0,460,744,745,1050,738,1389	1	1	4	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,28,0:223:99:0|1:25097005_A_G:589,0,8104,1176,8188,9364:25097005	4	0	16	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	597.61	244	chr13	25097021	.	G	T,*	597.61	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.31;DP=4600;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.15;MQRankSum=-1.027e+01;QD=0.13;ReadPosRankSum=-6.340e-01;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:195,0,28:223:99:0|1:25097005_A_G:589,1176,9364,0,8188,8104:25097005	4	0	1	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	616.58	244	chr13	25097025	.	TTAAGC	T,*	616.58	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.65;DP=4638;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.18;MQRankSum=-1.037e+01;QD=0.14;ReadPosRankSum=-4.370e-01;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:195,0,28:223:99:0|1:25097005_A_G:589,1176,9364,0,8188,8104:25097005	4	0	1	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	19605.59	231	chr13	25097030	.	C	T,*	19605.59	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.79;DP=4585;ExcessHet=25.1139;FS=4.555;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.30;MQRankSum=-1.040e+01;QD=4.43;ReadPosRankSum=-8.070e-01;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,31,0:223:99:0|1:25097005_A_G:724,0,7948,1302,8042,9343:25097005	4	0	16	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8628.76	35	chr13	30713841	.	G	GGT,GGTGT	8628.76	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.564;DP=1049;ExcessHet=0.5418;FS=1.813;InbreedingCoeff=0.0735;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=18.68;ReadPosRankSum=0.256;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:42,0,31:73:99:0|1:30713841_G_GGTGT:1155,1281,2933,0,1652,1559:30713841	14	0	0	0
chr13	35159412	35159412	T	A	exonic	NBEA	.	nonsynonymous SNV	NBEA:NM_001379245:exon22:c.T3241A:p.L1081I	.	.	421	1099	2	0	0	2	0.000909091	.	.	2813830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.436	B	0.16	B	0.001	D	0.955	D	0.345	N	0.32	T	-1.087	T	0.093	T	0.382	1.321	10.33	-3.91	-0.703	-1.061	15.142	0.075	0.00649608173706	.	0.000199681	0.0005	0.0001	0	0	0.0017	0.0002	0	0.0024	0.0004075	63	154602	rs201929445	0.0003	0.0003	0.0002	0.0004	0.0027	0.0003	0.0002	0.0024	0.0023	0	0	0	0	0.0015	0	7.196e-05	0.0002	0.0027	0.0002	0.0002	0.0001	0.0003	0.0021	0.0001	0.0001	0.0011	0.0009	0	0	0	0	0	0.0016	0	4.417e-05	0	0.0021	0.351	0.12632	T	0.381	0.15939	T	0.436	0.35766	B	0.16	0.34752	B	0.000622	0.42799	D	0.094115	0.999156	0.21565	N	1.04	0.26193	L	0.32	0.58468	T	-0.22	0.10480	N	0.45	0.48780	-1.0871	0.06030	T	0.093	0.35390	T	10	0.009279072	0.00210	T	0.006496	0.17100	T	0.075	0.21907	0.302	0.27003	0.334885890373	0.33091	0.11024781720152584	0.10953	0.299211418178	0.32289	0.658035874367	0.61128	T	0.071168	0.34142	T	-0.438983	0.01311	T	-0.408893	0.32353	T	0.03215006751934	0.02331	T	0.859414	0.55137	D	0.061220735	0.12653	0.055043012	0.09583	0.059189282	0.11998	0.05965949	0.11234	-4.161	0.26185	T	0.09590242510715533	0.06578	0.073	0.05800	B	.;.;.;.	.;.;.;.	1.206607	0.15994	12.24	0.93703875654078517	0.23617	0.09439	0.15194	N	AEFI	0.150900	0.27527	N	-0.918111697210196	0.10418	0.4977695	-0.977116807103779	0.10300	0.5178902	0.939918031114373	0.27409	0.615465	0.37627	0	0.588066	0.40923	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	5.09	-3.91	0.03892	-1.038000	0.03664	0.239000	0.16284	0.665000	0.62972	0.000000	0.06391	0.032000	0.21310	0.821000	0.38685	0.0:0.6704:0.0:0.3296	15.142	0.72294	925	0.17918	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2814.98	37	chr13	35159412	.	T	A	2814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.332e+00;DP=889;ExcessHet=0.0000;FS=1.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=0.098;SOR=0.782	GT:AD:DP:GQ:PL	0/1:81,108:189:99:2829,0,1994	20	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,44:147:99:.:.:240,0,2456	0	0	20	1
chr13	44574358	44574358	C	T	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_183422:exon1:c.G1717A:p.A573T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.002	B	0.005	N	1.000	D	0.345	N	1.53	T	-1.093	T	0.041	T	0.13	1.071	9.373	3.64	1.241	1.088	9.105	0.013	0.00398447551839	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325864268	7.524e-06	7.524e-06	6.806e-06	8.25e-06	0.0001	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.265	0.22694	T	0.0	0.02946	B	0.002	0.06944	B	0.005027	0.33162	N	0.212146	1	0.81001	D	0.55	0.14455	N	1.53	0.30401	T	-1.22	0.30964	N	0.099	0.08088	-1.0930	0.05051	T	0.041	0.17657	T	10	0.05192414	0.05146	T	0.003984	0.09431	T	0.013	0.01715	0.237	0.16760	0.0675242888579	0.06100	0.2843728531817961	0.28350	0.0708164839614	0.07938	0.431607067585	0.29428	T	0.088547	0.38182	T	-0.327729	0.06285	T	-0.611683	0.11849	T	0.106761989201408	0.13085	T	0.690631	0.30012	T	0.02877343	0.02268	0.052982874	0.08836	0.02877343	0.02267	0.052982874	0.08836	-3.44	0.15600	T	.	.	0.076	0.05756	B	.	.	1.960090	0.24899	16.57	0.96558885531505767	0.30251	0.21095	0.21279	N	ALL	0.085936	0.17421	N	-0.53899498367648	0.20829	1.101029	-0.41094992853938	0.24676	1.352594	0.999999999901876	0.74766	0.716459	0.82106	0	0.958517	0.99986	0	0.73237	0.93354	0	0.723	0.93126	0	.	.	4.49	3.64	0.40864	1.180000	0.31614	1.825000	0.29070	-0.314000	0.05961	0.064000	0.21895	0.945000	0.28875	0.471000	0.28363	0.0:0.8186:0.0:0.1814	9.105	0.35853	922	0.19044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1982.98	33	chr13	44574358	.	C	T	1982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.682e+00;DP=1095;ExcessHet=0.0000;FS=0.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=-7.010e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:62,74:136:99:1997,0,1697	20	0	1	0
chr13	52136222	52136224	TGG	-	exonic	NEK3	.	nonframeshift deletion	NEK3:NM_001146099:exon12:c.1015_1017del:p.P339del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	3e-05	0.0011	0.0006	8.41e-05	13	154602	rs764846559	6.158e-05	6.156e-05	3.132e-05	9.216e-05	0.0017	5.096e-05	4.716e-05	0.0009	0.0007	0	0	0	0	0	0.0017	0	8.283e-05	0.0009	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2403.94	35	chr13	52136221	.	TTGG	T	2403.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.092e+00;DP=831;ExcessHet=0.0000;FS=2.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.55;ReadPosRankSum=-1.780e-01;SOR=0.470	GT:AD:DP:GQ:PL	0/1:55,62:117:99:2418,0,2123	20	0	1	0
chr13	52461320	52461320	A	G	exonic	CKAP2	.	nonsynonymous SNV	CKAP2:NM_001098525:exon4:c.A497G:p.Q166R	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.925	P	0.621	P	0.189	N	0.998	N	2.32	M	2.13	T	-1.058	T	0.089	T	0.108	3.330	17.20	2.71	0.855	2.621	6.788	0.056	0.00798180176093	.	0.000998403	0.0009	0	0	0	0	0	0	0.0065	0.0007374	114	154602	rs538606264	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0054	0.0052	0	0	0	0	0	0.0003	3.597e-06	0.0005	0.0058	0.0002	0.0002	3.854e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0	0.0060	0.017	0.51248	D	0.082	0.42086	T	0.925	0.51395	P	0.621	0.51426	P	0.188770	0.16903	N	0.595481	0.997617	0.22584	N	2.745	0.80253	M	1.79	0.25509	T	-3.0	0.62343	D	0.139	0.19190	-1.0575	0.12388	T	0.089	0.34271	T	10	0.0062499344	0.00141	T	0.007982	0.21162	T	0.056	0.15993	0.165	0.06955	0.33085137897	0.32697	0.07744222479544711	0.07680	0.328660908213	0.34977	0.324867516756	0.14158	T	0.093564	0.66252	T	-0.530093	0.00383	T	-0.531467	0.19141	T	0.158609787310015	0.17768	T	0.691931	0.30130	T	0.05114879	0.09351	0.09003129	0.21088	0.05114879	0.09350	0.09003129	0.21088	-4.602	0.32197	T	.	.	0.129	0.27672	B	.;.;.;.;.	.;.;.;.;.	3.971213	0.58314	24.0	0.99634777606047953	0.76264	0.80402	0.40049	D	AEFDGBI	0.206158	0.33244	N	0.223801644049548	0.52354	3.410145	0.21111665716656	0.50462	3.238135	0.999991999453189	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	2.71	0.31092	2.899000	0.48378	7.592000	0.61280	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.6906:0.2261:0.0833:0.0	6.788	0.22869	612	0.66786	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1794.98	36	chr13	52461320	.	A	G	1794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=949;ExcessHet=0.0000;FS=6.281;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=-3.800e-01;SOR=0.585	GT:AD:DP:GQ:PL	0/1:74,66:140:99:1809,0,2010	20	0	1	0
chr13	59839431	59839431	C	G	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_030932:exon17:c.G1966C:p.E656Q	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.957	D	0.642	P	0.000	D	0.749	D	0.125	N	2.25	T	-1.120	T	0.033	T	0.265	1.306	10.28	5.19	2.585	4.420	19.072	0.139	0.00926361385992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665	0.04629	T	0.944	0.02662	T	0.957	0.54824	D	0.642	0.52168	P	0.000000	0.84330	D	0.000000	0.748539	0.33902	D	1.325	0.33218	L	2.25	0.17761	T	-0.25	0.11008	N	0.368	0.46649	-1.1196	0.02357	T	0.033	0.14377	T	10	0.24844795	0.42141	T	0.009264	0.24319	T	0.139	0.37390	0.579	0.70476	0.199424873507	0.19547	0.3078517233058756	0.30698	0.578654972884	0.53766	0.424586355686	0.28468	T	0.010769	0.09688	T	-0.190928	0.22122	T	-0.512031	0.21105	T	0.826390504837036	0.48252	D	0.818618	0.52873	T	0.30260983	0.53138	0.26132146	0.51908	0.30260983	0.53138	0.26132146	0.51907	-3.231	0.19850	T	.	.	0.108	0.23605	B	.;.;.;.;.;.	.;.;.;.;.;.	4.728693	0.76132	26.5	0.98758708090682246	0.45770	0.95910	0.66682	D	AEFBI	0.535548	0.55413	D	-0.0112595483317412	0.41345	2.471	0.15849252055076	0.47593	2.987276	0.999994519410229	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.19	5.19	0.71428	4.491000	0.60048	7.647000	0.63496	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.072	0.93126	862	0.33134	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	508.98	40	chr13	59839431	.	C	G	508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.271;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.79;ReadPosRankSum=1.15;SOR=0.671	GT:AD:DP:GQ:PL	0/1:29,23:52:99:523,0,707	20	0	1	0
chr13	99970416	99970416	-	GGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1259_1260insGCC:p.P424_A425insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772098205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10227.81	36	chr13	99970413	.	TGGC	T,TGGCGGC	10227.81	.	AC=11,3;AF=0.262,0.071;AN=42;BaseQRankSum=0.619;DP=1251;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=11,3;MLEAF=0.262,0.071;MQ=60.00;MQRankSum=0.00;QD=21.22;ReadPosRankSum=0.351;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:10,0,7:17:99:.:.:245,275,667,0,392,370	9	2	7	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	1289.7	107	chr13	102737670	.	C	G	1289.7	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-5.420e+00;DP=3587;ExcessHet=6.1002;FS=265.418;InbreedingCoeff=-0.4269;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.50;SOR=12.784	GT:AD:DP:GQ:PL	0/1:138,40:192:77:77,0,2926	6	0	10	5
chr13	102743025	102743025	T	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A7672G:p.K2558E,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0016	0	0	0	0	0	0.0053	0.0038	0.0002329	36	154602	rs557166940	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0002	0.0040	0.0038	3.19e-05	2.83e-05	0	0	0	0.0009	1.114e-05	0.0004	0.0043	0.0001	0.0001	6.433e-05	0.0001	0.0027	6.516e-05	5.326e-05	0.0016	0.0013	0	0	0	0	0	0	0.0034	2.945e-05	0	0.0027	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.23380	.	.	.	.	.	.	.	0.0046256483	0.00096	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.03275793085580121	0.03223	.	.	0.257341712713	0.04580	T	.	.	.	-0.429929	0.01483	T	-0.389386	0.34623	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.27313	B	.	.	0.215566	0.05988	2.426	0.7551545675533613	0.11105	0.00922	0.03585	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.942100788448421	0.27507	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0541152	0.12225	3.07	-1.09	0.09397	-0.161000	0.10014	-0.534000	0.08619	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.0:0.4145:0.0:0.5855	5.898	0.18192	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2501.98	112	chr13	102743025	.	T	C	2501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.610e-01;DP=2468;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=1.28;SOR=0.740	GT:AD:DP:GQ:PL	0/1:87,92:179:99:2516,0,2497	20	0	1	0
chr13	110456942	110456942	-	ATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAT:p.Q261delinsHGISPTDAWGPTQM,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.675e-05	1.751e-05	4.763e-05	4.61e-05	6.815e-05	2.14e-05	1.547e-05	2.59e-05	1.645e-05	0	6.655e-05	0	0	0	0	6.815e-05	0	3.383e-05	0.0016	0.0016	0.0018	0.0013	0.0021	0.0013	0.0012	0.0016	0.0015	0.0012	0	0.0008	0.0017	0.0005	0.0012	0	0.0021	0.0015	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4291.37	62	chr13	110456942	.	C	G,CATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	4291.37	.	AC=8,1;AF=0.444,0.056;AN=18;BaseQRankSum=2.30;DP=1158;ExcessHet=7.4688;FS=8.528;InbreedingCoeff=-0.4044;MLEAC=13,2;MLEAF=0.722,0.111;MQ=48.92;MQRankSum=2.86;QD=7.68;ReadPosRankSum=-4.184e+00;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,12,0:40:99:.:.:256,0,823,339,859,1198	0	0	8	12
chr13	113480723	113480723	T	C	exonic	DCUN1D2	.	nonsynonymous SNV	DCUN1D2:NM_001014283:exon3:c.A241G:p.I81V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.739	P	0.377	B	0.000	D	1.000	D	2.33	M	1.04	T	-0.928	T	0.136	T	0.35	3.174	16.62	3.86	0.875	5.597	10.902	0.090	0.00907737449842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.038	0.51421	D	0.739	0.42933	P	0.377	0.43762	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.99	0.53851	M	1.04	0.40218	T	-0.83	0.24898	N	0.281	0.31814	-0.9285	0.44357	T	0.136	0.45203	T	10	0.2532407	0.42689	T	0.009077	0.23893	T	0.090	0.26093	0.584	0.71118	0.528561964389	0.52502	0.5011895694990095	0.50040	0.242302907298	0.26741	0.4374358356	0.30227	T	0.046162	0.38530	T	-0.0694211	0.41421	T	-0.337495	0.40629	T	0.845690846443176	0.49798	D	0.952305	0.94093	D	0.44536456	0.63747	0.13460481	0.32250	0.44536456	0.63748	0.13460481	0.32250	-6.802	0.52574	T	.	.	0.245	0.60432	B	.;.;.;.	.;.;.;.	3.179573	0.43155	21.7	0.99709433512500312	0.81213	0.95010	0.63111	D	AEBI	0.507935	0.53802	D	0.311049090051056	0.56714	3.836706	0.324689411970498	0.56995	3.863829	0.999999876568844	0.74766	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.04	3.86	0.43689	5.619000	0.67408	4.670000	0.44274	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0742:0.0:0.9258	10.902	0.46265	940	0.13648	Potentiating neddylation domain;Potentiating neddylation domain;Potentiating neddylation domain;Potentiating neddylation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	761.98	34	chr13	113480723	.	T	C	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.754e+00;DP=798;ExcessHet=0.0000;FS=3.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=-4.900e-02;SOR=0.405	GT:AD:DP:GQ:PL	0/1:57,38:95:99:776,0,1467	20	0	1	0
chr14	18601808	18601808	G	A	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.G692A:p.G231E,	.	.	463	1056	3	0	0	3	0.00141844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.794	P	0.43	B	0.967	N	0.999	N	2.795	M	1.19	T	-0.917	T	0.121	T	0.316	0.554	6.999	0.585	0.619	-1.043	4.458	0.097	0.00943555002988	.	.	0.0005	0	0	0	0	0	0	0.0087	0.0001537	4	26028	rs752826268	0.0005	0.0005	0.0003	0.0007	0.0063	0.0004	0.0004	0.0058	0.0057	5.989e-05	4.474e-05	0	0	0	0.0007	7.555e-05	0.0007	0.0063	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0001	0.0035	0.0029	4.936e-05	0	6.638e-05	0	0	0	0.0137	2.949e-05	0.0005	0.0050	0.079	0.33753	T	0.258	0.23164	T	0.794	0.44757	P	0.43	0.45392	B	0.966947	0.07753	N	1.024520	.	.	.	2.785	0.81254	M	1.19	0.37578	T	-5.08	0.82896	D	0.152	0.15609	-0.9175	0.45891	T	0.121	0.42122	T	9	0.011373997	0.00249	T	0.009436	0.24739	T	0.097	0.27909	0.463	0.53242	0.396908593892	0.39302	0.07345809927279849	0.07282	3.50374879105	0.99750	0.282368928194	0.07825	T	0.048035	0.27900	T	-0.524892	0.00412	T	-0.520491	0.20245	T	0.118272027499504	0.14260	T	0.605739	0.22785	T	0.20750223	0.42958	0.19545688	0.43223	0.20750223	0.42957	0.19545688	0.43222	-10.795	0.78521	D	.	.	0.242	0.47622	B	.	.	1.207679	0.16006	12.25	0.87413793728676636	0.17210	0.00353	0.01817	N	AEFI	0.020334	0.00793	N	-0.539858841723168	0.20803	1.099379	-0.792498046615377	0.14679	0.768237	1.13830555641891E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-2.233000	0.01287	.	.	-1.881000	0.00542	0.000000	0.06391	0.220000	0.23707	0.008000	0.08271	0.0:0.4258:0.5742:1.0E-4	4.458	0.11075	.	.	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	0.025	2129.33	189	chr14	18601808	.	G	A	2129.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.81;DP=3054;ExcessHet=0.0000;FS=0.519;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=30.45;MQRankSum=-1.697e+00;QD=10.65;ReadPosRankSum=1.10;SOR=0.650	GT:AD:DP:GQ:PL	0/1:107,93:200:99:2143,0,2604	19	0	1	1
chr14	20801690	20801690	T	C	exonic	RNASE1	.	nonsynonymous SNV	RNASE1:NM_002933:exon2:c.A379G:p.T127A	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.001	B	0.007	B	0.203	N	1.000	N	1.8	L	-0.72	T	-0.930	T	0.229	T	0.111	1.376	10.53	2.71	0.979	-0.450	6.960	0.104	.	.	0.00199681	0.0012	0	0	0.0001	0	0	0.0011	0.0087	0.0010414	161	154602	rs555113365	0.0005	0.0005	0.0003	0.0007	0.0080	0.0005	0.0005	0.0075	0.0074	0	0	0	0	0	0.0002	1.799e-06	0.0005	0.0080	0.0003	0.0003	0.0002	0.0004	0.0095	0.0002	0.0002	0.0074	0.0066	0	0	0	0	0	0	0	0	0	0.0095	0.276	0.17296	T	0.316	0.19362	T	0.001	0.07471	B	0.007	0.12992	B	0.203133	0.16550	N	0.620707	1	0.08975	N	1.565	0.39561	L	-0.72	0.72994	T	-3.62	0.69593	D	0.063	0.11912	-0.9304	0.44080	T	0.229	0.59484	T	10	0.005356282	0.00117	T	.	.	.	0.104	0.29647	0.606	0.73825	0.650691954393	0.64779	0.4578217451409525	0.45700	0.192883983808	0.21620	0.375300347805	0.21589	T	0.315351	0.68696	T	-0.511404	0.00493	T	-0.501823	0.22159	T	0.031088109800568	0.02161	T	0.557244	0.19380	T	0.10130437	0.23928	0.12321319	0.29714	0.10130437	0.23927	0.12321319	0.29713	-4.122	0.25614	T	.	.	0.138	0.30945	B	.;.;.;.;.	.;.;.;.;.	1.113776	0.14988	11.50	0.91944561474787423	0.21271	0.04934	0.10691	N	AEFBHCI	0.371582	0.45754	N	-0.751016223444136	0.14605	0.7289628	-0.685817306912872	0.17316	0.920158	0.999999996915684	0.74766	0.743674	0.98306	0	0.491513	0.07743	0	0.630245	0.45026	0	0.657601	0.63696	0	.	.	5.15	2.71	0.31092	-0.241000	0.08958	-1.255000	0.05895	-0.727000	0.03751	0.000000	0.06391	0.000000	0.08366	0.936000	0.47498	0.0:0.186:0.0:0.814	6.960	0.23771	573	0.70213	Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1701.98	34	chr14	20801690	.	T	C	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.004e+00;DP=855;ExcessHet=0.0000;FS=1.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-1.263e+00;SOR=0.578	GT:AD:DP:GQ:PL	0/1:87,73:160:99:1716,0,2295	20	0	1	0
chr14	20956082	20956082	A	C	exonic	RNASE2	.	nonsynonymous SNV	RNASE2:NM_002934:exon2:c.A311C:p.Q104P,	.	.	426	1081	13	2	0	17	0.00780174	.	.	702799	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.016	B	0.021	B	0.346	N	1.000	N	0.73	N	-0.66	T	-0.992	T	0.136	T	0.216	-1.736	0.011	-6.03	-2.593	-7.342	7.785	0.079	.	0.0002	0.00159744	0.0012	9.61e-05	0.0018	0	0	0.0007	0.0055	0.0048	0.0010996	170	154602	rs142822260	0.0006	0.0006	0.0005	0.0008	0.0073	0.0006	0.0006	0.0055	0.0049	0.0004	0.0017	0.0036	0	0	0.0073	0.0002	0.0010	0.0055	0.0006	0.0006	0.0005	0.0006	0.0064	0.0005	0.0004	0.0046	0.0040	0.0002	0	0.0012	0.0020	0	0	0.0102	0.0003	0.0014	0.0064	0.605	0.05551	T	0.626	0.07292	T	0.016	0.17332	B	0.021	0.19346	B	0.346455	0.13883	N	0.520969	1	0.08975	N	0.555	0.15161	N	-0.66	0.72348	T	0.64	0.02368	N	0.096	0.07673	-0.9919	0.32115	T	0.136	0.45222	T	10	0.007411629	0.00169	T	.	.	.	0.079	0.23065	.	.	0.311387274539	0.30754	0.8427638846248411	0.84237	0.486651211753	0.47520	0.222315192223	0.01448	T	0.00551	0.04962	T	-0.528151	0.00394	T	-0.530338	0.19253	T	0.0109957543687198	0.00158	T	0.383462	0.09368	T	0.23859242	0.46739	0.16625525	0.38419	0.23859242	0.46739	0.16625525	0.38418	-3.098	0.11273	T	.	.	0.082	0.08705	B	.	.	-2.508378	0.00031	0.001	0.10404310038132746	0.00130	0.00145	0.00883	N	AEFGBI	0.042618	0.06635	N	-1.90832286689494	0.00330	0.01417874	-2.04168157269928	0.00249	0.01100217	0.99999939991988	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.02	-6.03	0.02001	-7.002000	0.00059	-20.000000	0.00162	-1.011000	0.01765	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1883:0.5182:0.2935:0.0	7.785	0.28251	923	0.18507	Ribonuclease A-domain|Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1708.98	33	chr14	20956082	.	A	C	1708.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.029e+00;DP=822;ExcessHet=0.0000;FS=2.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.070;SOR=0.858	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1723,0,2007	20	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.008	B	0.009	B	0.000	D	0.996	D	0.97	L	2.67	T	-1.062	T	0.026	T	0.315	2.700	14.99	4.09	2.615	3.447	14.766	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3667	974.79	119	chr14	24300437	.	G	C	974.79	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-4.960e+00;DP=2462;ExcessHet=7.7275;FS=350.718;InbreedingCoeff=-0.4950;MLEAC=13;MLEAF=0.433;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.16;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,28:122:35:.:.:35,0,2655	4	0	11	6
chr14	37422921	37422921	G	A	exonic	MIPOL1	.	nonsynonymous SNV	MIPOL1:NM_138731:exon12:c.G1003A:p.E335K	.	.	7	1514	1	0	0	1	0.000330142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.996	D	0.001	D	0.854	D	1.995	M	-0.21	T	-0.177	T	0.445	T	0.828	2.459	14.18	5.81	2.756	5.464	16.995	0.226	0.0846298048995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	0.999	0.77913	D	0.996	0.84481	D	0.000749	0.42006	D	0.097074	0.853893	0.35269	D	1.04	0.26193	L	-0.24	0.68329	T	-2.07	0.50175	N	0.847	0.86833	-0.1768	0.78261	T	0.445	0.78149	T	10	0.6909399	0.71851	D	0.08463	0.74366	D	0.226	0.52472	0.268	0.21576	0.809288029322	0.80750	0.5032159496782164	0.50243	0.226704076737	0.25215	0.680275440216	0.64307	T	0.323078	0.69402	T	0.206177	0.74470	D	0.0583832	0.74138	D	0.772193000412088	0.44571	D	0.947205	0.79675	D	0.21431568	0.43834	0.26622573	0.52466	0.21431568	0.43834	0.26622573	0.52465	-9.759	0.72456	D	.	.	0.528	0.65841	A	.;.;.;.;.;.	.;.;.;.;.;.	5.241613	0.87993	29.4	0.95792879103211026	0.27836	0.73724	0.36061	D	AEFDHCI	0.662747	0.63251	D	0.615436819430288	0.74150	6.084117	0.65273999729003	0.78815	6.952794	0.999999856070245	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.81	5.81	0.92413	6.105000	0.71165	11.622000	0.93628	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.995	0.86238	912	0.21483	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2521.98	34	chr14	37422921	.	G	A	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=933;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.149e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/1:107,108:215:99:2536,0,2539	20	0	1	0
chr14	45226775	45226775	G	T	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon10:c.C1808A:p.T603K,	.	.	877	636	8	1	0	10	0.00780031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.863	P	0.979	N	0.515	N	1.5	L	2.02	T	-0.989	T	0.083	T	0.253	2.131	13.08	2.94	0.610	1.568	5.273	0.058	.	7.8e-05	0.00399361	0.0057	0	0	0	0	0.0013	0.0039	0.0164	0.0014295	221	154602	rs144591732	0.0012	0.0013	0.0007	0.0017	0.0156	0.0012	0.0011	0.0148	0.0145	3.758e-05	0.0003	0.0020	0	0	0.0034	0.0003	0.0015	0.0156	0.0010	0.0010	0.0006	0.0015	0.0168	0.0009	0.0008	0.0138	0.0128	7.223e-05	0	0.0004	0.0032	0	0	0.0103	0.0007	0.0014	0.0168	0.021	0.49117	D	0.051	0.47828	T	0.998	0.73220	D	0.863	0.61398	P	0.979405	0.07830	N	1.011430	0.514574	0.31619	N	1.78	0.46185	L	2.02	0.21119	T	-1.35	0.33598	N	0.131	0.12627	-0.9885	0.32978	T	0.083	0.32671	T	10	0.0066874623	0.00152	T	.	.	.	0.058	0.16647	.	.	0.344017737713	0.34012	0.17169480644439244	0.17089	0.0285527149791	0.02937	0.577752172947	0.49770	T	0.002494	0.01884	T	-0.494596	0.00613	T	-0.470906	0.25418	T	0.0670183516689708	0.08227	T	0.412859	0.10744	T	0.07779437	0.17678	0.10648939	0.25619	0.07779437	0.17678	0.10648939	0.25619	-2.134	0.03732	T	.	.	0.1	0.17146	B	.	.	2.316029	0.29649	18.19	0.9555788179128617	0.27231	0.69889	0.34367	D	AEFBI	0.100684	0.20239	N	0.261643419797473	0.54217	3.587877	0.193644771548225	0.49497	3.152246	0.00906498830387248	0.11790	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	3.91	2.94	0.33188	1.593000	0.36297	1.219000	0.24962	0.590000	0.31872	0.987000	0.36337	0.910000	0.28117	0.990000	0.65344	0.2161:0.0:0.7839:0.0	5.273	0.14948	788	0.46569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1495.11	35	chr14	45226775	.	G	T	1495.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.503;DP=815;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.424;SOR=0.664	GT:AD:DP:GQ:PL	0/1:50,35:85:99:835,0,1255	19	0	2	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:36,19:55:99:146,0,602	0	0	21	0
chr14	59966674	59966674	C	T	exonic	LRRC9	.	nonsynonymous SNV	LRRC9:NM_001355272:exon11:c.C1297T:p.R433C,	.	.	462	1046	12	2	0	16	0.00759013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0070	0.0018	0.0106	0	0.0031	0.0153	0.0054	0.0042	0.002445	378	154602	rs35533709	0.0091	0.0082	0.0092	0.0089	0.0116	0.0089	0.0088	0.0113	0.0112	0.0025	0.0051	0.0187	3.125e-05	0.0039	0.0097	0.0116	0.0090	0.0042	0.0077	0.0078	0.0084	0.0071	0.0123	0.0074	0.0072	0.0116	0.0114	0.0024	0.0252	0.0048	0.0188	0	0.0034	0.0102	0.0123	0.0114	0.0031	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.58761	D	.	.	.	1.57	0.29342	T	-6.13	0.90100	D	0.717	0.71942	.	.	.	.	.	.	.	0.0050485134	0.00109	T	.	.	.	.	.	.	.	0.589041309526	0.58578	0.5787901198776813	0.57808	.	.	.	.	.	0.141614	0.47676	T	-0.196966	0.21244	T	-0.0446739	0.67385	D	.	.	.	0.888211	0.62120	D	0.35072795	0.57124	0.34869695	0.60505	0.35072795	0.57124	0.34869695	0.60505	-7.91	0.60455	D	.	.	0.225	0.45653	B	.;.	.;.	4.924815	0.81138	27.5	0.99943290174205235	0.99848	0.72050	0.35281	D	AEFBI	0.588176	0.58554	D	.	.	.	.	.	.	0.970891578199924	0.29243	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	2.657000	0.46389	5.920000	0.51151	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.1527:0.8473:0.0:0.0	13.869	0.63106	496	0.76301	.;.	L3HYPDH|GPR135|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH|GPR135|L3HYPDH|GPR135|GPR135|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH|GPR135|L3HYPDH|GPR135|L3HYPDH|GPR135|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH|L3HYPDH	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Coronary|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Testis|Thyroid|Whole_Blood	L3HYPDH	Artery_Tibial	rs35533709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1467.98	37	chr14	59966674	.	C	T	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.895;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-2.560e-01;SOR=0.691	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1482,0,1338	20	0	1	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N	.	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.42	M	1.32	T	0.030	D	0.516	D	0.363	3.906	19.86	5.62	2.822	5.217	20.038	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	523.33	37	chr14	63599584	.	C	T	523.33	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.226e+00;DP=1226;ExcessHet=0.1072;FS=11.265;InbreedingCoeff=-0.0563;MLEAC=2;MLEAF=0.048;MQ=59.00;MQRankSum=-1.084e+01;QD=1.30;ReadPosRankSum=-2.818e+00;SOR=1.950	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,25:220:99:0|1:63599584_C_T:463,0,8066:63599584	19	0	2	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R	.	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.982	D	0.000	D	1.000	D	2.42	M	1.3	T	0.036	D	0.492	T	0.976	3.357	17.31	5.62	2.277	4.261	16.132	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	565.33	37	chr14	63599585	.	T	G	565.33	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.154;DP=1229;ExcessHet=0.1072;FS=11.265;InbreedingCoeff=-0.0563;MLEAC=2;MLEAF=0.048;MQ=58.99;MQRankSum=-1.084e+01;QD=1.40;ReadPosRankSum=-3.100e+00;SOR=1.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,25:220:99:0|1:63599584_C_T:463,0,8066:63599584	19	0	2	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X	.	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.496	24.1	4.69	2.826	2.723	16.526	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	536.85	53	chr14	63599753	.	G	A	536.85	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.700e-02;DP=1783;ExcessHet=0.3300;FS=7.440;InbreedingCoeff=-0.0767;MLEAC=3;MLEAF=0.071;MQ=59.03;MQRankSum=-1.129e+01;QD=0.85;ReadPosRankSum=-1.960e+00;SOR=1.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,25:211:99:0|1:63599753_G_A:490,0,7692:63599753	18	0	3	0
chr14	63599773	63599773	T	C	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A170G:p.K57R	.	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.034	B	0.01	B	0.000	D	0.703	N	0.345	N	1.61	T	-0.957	T	0.113	T	0.21	0.197	5.059	5.63	2.281	1.485	8.743	0.081	0.00510807500172	.	.	.	.	.	.	.	.	.	.	.	.	.	rs901666396	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.002e-05	0.0027	2.605e-05	1.368e-05	6.652e-05	5.32e-06	2.48e-06	.	.	2.461e-05	0	6.652e-05	0	0	9.59e-05	0	0	0	0	0.517	0.07330	T	0.721	0.05327	T	0.034	0.20480	B	0.01	0.14941	B	0.000180	0.48594	D	0.205247	0.703363	0.30082	N	2.155	0.60227	M	-0.15	0.65192	T	-0.35	0.12847	N	0.075	0.07262	-0.9571	0.39717	T	0.113	0.40307	T	10	0.12324116	0.23392	T	0.005108	0.12970	T	0.081	0.23632	0.535	0.64439	0.656961720716	0.65409	0.3911789445950797	0.39032	0.0940757242982	0.10619	0.339419215918	0.16351	T	0.023761	0.18078	T	-0.115425	0.33875	T	-0.403576	0.32968	T	0.191546842455864	0.19936	T	0.781422	0.41649	T	0.028487818	0.02194	0.034389522	0.02497	0.028487818	0.02194	0.034389522	0.02497	-3.76	0.20208	T	.	.	0.074	0.11317	B	.;.;.;.	.;.;.;.	1.968509	0.25009	16.61	0.87872483150214187	0.17544	0.82077	0.41361	D	AEFGBI	0.141147	0.26325	N	-0.238387938740899	0.31569	1.771506	-0.00565315919314946	0.39460	2.339944	0.999533698633903	0.40238	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	1.604000	0.36415	4.239000	0.42696	-0.665000	0.04339	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:0.1114:0.0:0.8886	8.743	0.33732	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	52.98	53	chr14	63599773	.	T	C	52.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=1102;ExcessHet=0.0000;FS=20.567;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.09;MQRankSum=-1.254e+01;QD=0.28;ReadPosRankSum=-2.005e+00;SOR=3.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,14:187:67:0|1:63599766_C_T:67,0,7059:63599766	20	0	1	0
chr14	65084272	65084272	T	C	exonic	MAX	.	nonsynonymous SNV	MAX:NM_001271068:exon3:c.A172G:p.T58A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.0	B	0.0	B	.	.	0.950	N	.	.	-3.84	D	-0.270	T	0.661	D	0.016	1.487	10.92	1.78	0.483	0.040	5.551	0.211	0.0218959650397	.	.	0.0001	0	0.0002	0	0	2.999e-05	0.0022	0.0004	8.41e-05	13	154602	rs141542259	4.939e-05	4.925e-05	2.731e-05	7.168e-05	0.0007	4.004e-05	3.68e-05	0.0006	0.0005	0	0	0	0	0	0	7.219e-06	3.318e-05	0.0007	1.977e-05	1.972e-05	0	4.049e-05	0.0004	5.26e-06	2.46e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0004	0.266	0.16251	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.950257	0.37687	D	.	.	.	-3.84	0.95826	D	0.81	0.01839	N	0.029	0.00666	-0.2704	0.75801	T	0.661	0.88212	D	8	0.034693718	0.01687	T	0.021896	0.44729	T	0.211	0.50185	0.503	0.59615	0.390292564088	0.38643	.	.	.	.	.	.	.	.	.	.	-0.364463	0.03884	T	-0.378085	0.35945	T	0.0149758049805285	0.00320	T	0.204979	0.02394	T	.	.	.	.	.	.	.	.	-3.673	0.18920	T	.	.	0.065	0.01960	B	.	.	0.338837	0.07123	3.703	0.81584564596339337	0.13758	0.00086	0.00577	N	AEFBI	0.016817	0.00402	N	-0.97472057563725	0.09146	0.4316578	-0.993028853536206	0.09941	0.4976008	0.999617574738714	0.40981	0.722319	0.85440	0	0.698795	0.70079	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	3.63	1.78	0.23918	0.043000	0.13855	0.084000	0.14428	-0.201000	0.08892	0.003000	0.16062	0.031000	0.21272	0.011000	0.09372	0.0:0.737:0.0:0.263	5.551	0.16380	375	0.84013	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1116.98	38	chr14	65084272	.	T	C	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.491;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-1.278e+00;SOR=0.665	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1131,0,1008	20	0	1	0
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/1:0,10,0:10:30:447,30,0,447,30,447	0	19	0	0
chr14	77027301	77027301	-	GCG	exonic	IRF2BPL	.	nonframeshift insertion	IRF2BPL:NM_024496:exon1:c.491_492insCGC:p.A164_V165insA,	.	.	280	1224	11	0	7	18	0.00447336	.	.	1164466	not_provided|IRF2BPL-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0002	0.0014	0	0	0.0005	0.0024	0.0014	0.0001153	3	26028	rs780441372	0.0011	0.0010	0.0010	0.0011	0.0018	0.0010	0.0010	0.0015	0.0014	0.0007	0.0010	0.0059	0.0002	0.0008	0	0.0010	0.0010	0.0018	0.0012	0.0012	0.0012	0.0012	0.0018	0.0010	0.0010	0.0013	0.0011	0.0008	0	0.0018	0.0084	0.0006	0.0006	0	0.0011	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1130.94	33	chr14	77027301	.	C	CGCG	1130.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=921;ExcessHet=0.0000;FS=5.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.54;ReadPosRankSum=0.436;SOR=0.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,32:61:99:0|1:77027301_C_CGCG:1145,0,1010:77027301	20	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.457	T	0.373	T	0.265	1.329	10.36	6.02	2.865	5.815	17.697	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	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	1084.5	165	chr14	78297852	.	G	A	1084.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-4.121e+00;DP=3392;ExcessHet=20.9642;FS=253.512;InbreedingCoeff=-0.6055;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-1.140e-01;SOR=12.494	GT:AD:DP:GQ:PL	0/1:130,45:190:27:27,0,2243	5	0	16	0
chr14	91591996	91591996	C	T	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon23:c.G2716A:p.G906S,	.	.	.	.	.	.	.	.	.	.	.	2366000	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.996	D	0.000	D	0.959	N	1.975	M	0.79	T	-0.810	T	0.244	T	0.328	3.527	18.01	4.25	1.128	3.509	10.897	0.100	0.0271072161437	0.0002	.	9.884e-05	0	0	0	0	0.0001	0.0011	6.056e-05	8.41e-05	13	154602	rs377643733	9.061e-05	9.167e-05	8.063e-05	0.0001	0.0002	7.783e-05	7.324e-05	9.816e-05	7.857e-05	5.993e-05	2.241e-05	0.0018	0	0	0	5.236e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	5.88e-05	0.0001	8.725e-05	1.972e-05	1.124e-05	2.415e-05	0	0	0.0052	0	0	0	5.88e-05	0	0	0.094	0.31383	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000110	0.50451	D	0.000000	0.959451	0.26185	N	2.78	0.81115	M	0.79	0.49068	T	-3.89	0.72820	D	0.479	0.51405	-0.8103	0.54532	T	0.244	0.61249	T	10	0.07657516	0.11979	T	0.027107	0.49956	D	0.100	0.28662	.	.	0.702633538697	0.70005	0.6157870092488746	0.61510	0.798181110154	0.66124	0.440170645714	0.30599	T	0.245522	0.61483	T	-0.261793	0.12691	T	-0.398489	0.33560	T	0.906224429607391	0.56018	D	.	.	.	0.21472318	0.43885	0.24212302	0.49626	0.21472318	0.43885	0.24212302	0.49625	-5.204	0.38982	T	.	.	0.484	0.63830	A	.	.	4.860284	0.79530	27.1	0.99809249167406999	0.89353	0.62245	0.31723	D	AEFI	0.211161	0.33698	N	0.426111798955614	0.62862	4.509354	0.365624931652158	0.59453	4.123414	0.77916815248555	0.23809	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.16	4.25	0.49658	3.554000	0.53466	7.410000	0.58637	0.549000	0.26987	0.892000	0.31242	1.000000	0.68203	0.988000	0.63387	0.1879:0.812:0.0:0.0	10.897	0.46238	893	0.26510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1041.98	33	chr14	91591996	.	C	T	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.368;DP=784;ExcessHet=0.0000;FS=4.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.889;SOR=0.361	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1056,0,947	20	0	1	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:31,0,0,0,13,0,0:46:99:.:.:1339,983,2116,983,2116,2116,983,2116,2116,2116,0,1222,1222,1222,1114,983,2116,2116,2116,1222,2116,983,2116,2116,2116,1222,2116,2116	1	5	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,75:166:99:.:.:1039,0,1338	0	0	21	0
chr14	104177602	104177602	C	T	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.C4814T:p.T1605M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.05	B	0.023	B	.	.	1.000	N	0.895	L	-1.17	T	-0.855	T	0.235	T	0.114	-0.057	3.721	0.074	0.441	-0.834	3.477	0.093	0.199693614028	.	.	.	.	.	.	.	.	.	.	.	.	.	rs777924224	2.54e-05	2.736e-05	3.007e-05	2.061e-05	9.651e-05	1.845e-05	1.632e-05	2.557e-05	1.308e-05	9.651e-05	0	0	0	0	0	2.232e-05	6.965e-05	5.117e-05	6.571e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.082	0.33254	T	0.08	0.41913	T	0.05	0.22331	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	0.2	0.09183	N	-1.17	0.78199	T	-0.87	0.23590	N	0.125	0.11769	-0.8550	0.51620	T	0.235	0.60221	T	9	0.08713028	0.14878	T	0.199694	0.86666	D	0.093	0.26882	0.127	0.03251	0.645499774991	0.64256	0.18439822768989822	0.18358	0.0927056782991	0.10471	0.701386213303	0.67344	T	0.017005	0.13947	T	-0.416425	0.01803	T	-0.48877	0.23519	T	0.0059128408384889	0.00065	T	0.50155	0.15709	T	0.016586807	0.00207	0.027934983	0.00986	0.016586807	0.00207	0.027934983	0.00986	-5.777	0.44373	T	.	.	0.076	0.11220	B	.;.	.;.	-0.128789	0.03475	0.647	0.96337717397071754	0.29469	0.05846	0.11789	N	AEFDBCI	0.054813	0.09999	N	-1.01917792621031	0.08206	0.3839477	-1.09040204926608	0.07888	0.3855412	0.994203567424048	0.33533	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.5	0.074	0.13705	-0.211000	0.09336	-5.180000	0.01817	-0.358000	0.05522	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5116:0.2154:0.273	3.477	0.07152	561	0.71236	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1332.98	63	chr14	104177602	.	C	T	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.604;DP=1589;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=-2.950e-01;SOR=0.816	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1347,0,1491	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,86,0:260:99:0|1:104946204_C_T:3058,0,7034,3582,7292,10875:104946204	1	7	12	0
chr14	104950695	104950695	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A4456G:p.M1486V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.018	B	0.013	B	.	.	0.967	N	2.235	M	5.43	T	-0.979	T	0.004	T	0.399	-0.437	1.968	-6.26	-1.504	-0.938	7.805	0.133	0.0041988079455	0.0005	.	0.0003	0.0031	0.0004	0.0005	0	0	0	0	3.84e-05	1	26028	rs200380758	0.0001	0.0002	0.0002	0.0001	0.0037	0.0001	0.0001	0.0032	0.0030	0.0037	0.0005	0	0.0004	0	0	9.119e-06	0.0002	9.388e-05	0.0011	0.0017	0.0009	0.0012	0.0034	0.0009	0.0009	0.0030	0.0028	0.0034	0	0.0006	0	0.0015	0	0	1.524e-05	0	0.0002	0.538	0.06847	T	0.298	0.20486	T	0.018	0.17786	B	0.013	0.16460	B	.	.	.	.	0.966517	0.38535	D	1.37	0.34214	L	5.43	0.00989	T	-1.48	0.36189	N	0.291	0.32921	-0.9794	0.35139	T	0.004	0.01330	T	9	0.0062799156	0.00142	T	0.004199	0.10121	T	0.133	0.36157	.	.	0.0138822411134	0.00435	0.009098825432665936	0.00872	.	.	0.254592239857	0.04267	T	0.018731	0.15049	T	-0.51241	0.00486	T	-0.514366	0.20867	T	0.00441812691187203	0.00047	T	0.444256	0.12390	T	0.16156295	0.36173	0.1378784	0.32943	0.16156295	0.36173	0.1378784	0.32943	-5.601	0.42801	T	.	.	0.183	0.39647	B	.	.	0.437954	0.08080	4.807	0.69790687137180663	0.09086	0.00660	0.02859	N	AEFBI	.	.	.	-1.0566555443308	0.07458	0.3464916	-1.1779630658425	0.06279	0.3017504	0.0652585298702765	0.15355	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.41	-6.26	0.01856	-0.367000	0.07607	-6.803000	0.01302	0.607000	0.46521	0.012000	0.18695	0.000000	0.08366	0.678000	0.33484	0.0:0.2433:0.5007:0.256	7.805	0.28359	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	2797.33	280	chr14	104950695	.	T	C	2797.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.650e-01;DP=5086;ExcessHet=0.0000;FS=7.056;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.01;MQRankSum=-2.874e+00;QD=13.92;ReadPosRankSum=0.103;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,83:201:99:0|1:104950695_T_C:2811,0,4434:104950695	19	0	1	1
chr14	104950716	104950716	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4435C:p.V1479L	.	.	.	.	.	.	.	.	.	.	.	2338057	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.51	T	0.019	B	0.013	B	.	.	1.000	N	1.72	L	5.49	T	-0.932	T	0.004	T	0.174	-0.216	2.955	3.05	0.621	-0.595	12.233	0.039	0.00558108494948	.	0.000998403	0.0003	0.0026	0.0004	0	0	0.0002	0	0	0.0003299	51	154602	rs201305152	0.0002	0.0003	0.0002	0.0002	0.0015	0.0002	0.0001	0.0012	0.0011	0.0015	0.0005	0.0017	0.0003	0	0.0002	8.025e-05	0.0004	9.389e-05	0.0011	0.0018	0.0010	0.0012	0.0033	0.0010	0.0009	0.0028	0.0026	0.0033	0	0.0006	0.0021	0.0015	0	0	0.0001	0	0.0002	0.202	0.20230	T	0.343	0.17857	T	0.019	0.17989	B	0.013	0.16460	B	.	.	.	.	1	0.81001	D	1.465	0.36909	L	5.49	0.00930	T	-1.17	0.29933	N	0.234	0.26354	-0.9325	0.43770	T	0.004	0.01435	T	9	0.0050415695	0.00109	T	0.005581	0.14409	T	0.039	0.10176	0.317	0.29419	0.0297737177859	0.01360	0.003504521705394993	0.00327	.	.	0.290864109993	0.09048	T	0.021628	0.16810	T	-0.581833	0.00188	T	-0.627554	0.10600	T	0.0112396943767457	0.00165	T	0.577542	0.20782	T	0.06307895	0.13243	0.061105244	0.11745	0.06307895	0.13243	0.061105244	0.11744	-4.934	0.36115	T	.	.	0.204	0.42934	B	.	.	-0.208095	0.03048	0.471	0.74171055708229017	0.10596	0.09214	0.15015	N	AEFBI	.	.	.	-0.975088348401705	0.09138	0.4312464	-0.956632947347064	0.10770	0.5445524	2.97306880482216E-4	0.06406	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.94	3.05	0.34272	-0.604000	0.05763	-20.000000	0.00162	0.548000	0.25860	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.9138:0.0:0.0862	12.233	0.53814	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1948.33	280	chr14	104950716	.	C	G	1948.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.30;DP=5071;ExcessHet=0.0000;FS=14.160;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.88;MQRankSum=-4.623e+00;QD=10.42;ReadPosRankSum=0.247;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,57:187:99:0|1:104950695_T_C:1962,0,5171:104950695	19	0	1	1
chr14	104950752	104950752	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T4399C:p.S1467P	.	.	438	1079	4	1	0	6	0.00277264	.	.	2807538	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.001	B	.	.	1.000	N	-2.34	N	5.56	T	-0.927	T	0.001	T	0.053	0.006	4.043	-5.53	-1.435	-1.935	1.311	0.012	0.00525078979012	.	0.000798722	0.0002	0.0011	0.0005	0.0002	0	0.0001	0	0.0001	0.0003842	10	26028	rs566793012	0.0002	0.0004	0.0002	0.0002	0.0020	0.0002	0.0002	0.0016	0.0014	0.0020	0.0010	3.878e-05	0.0005	0	0.0003	0.0001	0.0002	0.0005	0.0010	0.0023	0.0009	0.0011	0.0027	0.0009	0.0008	0.0023	0.0021	0.0027	0	0.0009	0	0.0022	0	0	0.0001	0.0005	0.0016	0.421	0.09806	T	0.29	0.21011	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.085	0.01025	N	5.56	0.00864	T	0.63	0.02404	N	0.051	0.02272	-0.9273	0.44530	T	0.001	0.00255	T	9	0.010923356	0.00241	T	0.005251	0.13402	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.003289280436733485	0.00306	.	.	0.203316047788	0.00559	T	0.020638	0.16215	T	-0.728397	0.00024	T	-0.849147	0.00970	T	0.00123094825792636	0.00012	T	0.184182	0.01901	T	0.05584457	0.10909	0.045535143	0.06147	0.05584457	0.10909	0.045535143	0.06147	0.518	0.00209	T	.	.	0.047	0.00070	B	.	.	-0.740706	0.01229	0.062	0.2685719216054927	0.01306	0.00061	0.00447	N	AEFBI	.	.	.	-2.12555164112222	0.00112	0.004811823	-2.11010910704639	0.00177	0.007797872	0.0116821985739223	0.12221	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.03	-5.53	0.02351	-0.793000	0.04695	-2.546000	0.03624	-0.968000	0.01952	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.181:0.1259:0.3099:0.3832	1.311	0.01970	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	299.33	280	chr14	104950752	.	A	G	299.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.92;DP=5043;ExcessHet=0.0000;FS=42.803;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.36;MQRankSum=-5.941e+00;QD=1.93;ReadPosRankSum=-3.789e+00;SOR=3.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,18:155:99:0|1:104950752_A_G:313,0,5570:104950752	19	0	1	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,7,0:49:99:.:.:197,0,1706,324,1751,2075	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,7,0:49:99:.:.:197,0,1706,324,1751,2075	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,7:49:99:.:.:197,324,2075,0,1751,1706	7	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,7,0:49:99:.:.:197,0,1706,324,1751,2075	7	0	12	1
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26,	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,7,0:49:99:.:.:197,0,1706,324,1751,2075	7	0	12	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43,	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,7:49:99:.:.:197,324,2075,0,1751,1706	6	0	1	3
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,7:49:99:.:.:197,324,2075,0,1751,1706	6	0	1	3
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	276.54	67	chr15	20534667	.	C	*,CA	276.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=2.81;DP=1654;ExcessHet=14.4320;FS=0.598;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.17;MQRankSum=-1.904e+00;QD=0.32;ReadPosRankSum=0.453;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,7,0:49:99:.:.:197,0,1706,324,1751,2075	6	0	13	1
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	240.54	67	chr15	20534668	.	CTT	*,C	240.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=1.75;DP=1651;ExcessHet=14.4320;FS=0.595;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.12;MQRankSum=-1.948e+00;QD=0.28;ReadPosRankSum=1.06;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,7,0:49:99:.:.:197,0,1706,324,1751,2075	6	0	13	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	204.03	67	chr15	20534672	.	T	*,C	204.03	.	AC=13,1;AF=0.342,0.026;AN=38;BaseQRankSum=1.01;DP=1514;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5167;MLEAC=14,1;MLEAF=0.368,0.026;MQ=49.17;MQRankSum=-1.240e+00;QD=0.24;ReadPosRankSum=0.861;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,7,0:49:99:.:.:197,0,1706,324,1751,2075	5	0	13	2
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	169.85	67	chr15	20534676	.	C	T,*	169.85	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=2.03;DP=1485;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.4784;MLEAC=1,13;MLEAF=0.026,0.342;MQ=51.07;MQRankSum=-7.020e-01;QD=0.22;ReadPosRankSum=-2.744e+00;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,7:49:99:.:.:197,324,2075,0,1751,1706	6	0	1	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,7,0:49:99:.:.:197,0,1706,324,1751,2075	6	0	11	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V,	.	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.041	B	0.015	B	.	.	1.000	N	0.805	L	3.33	T	-0.935	T	0.009	T	0.033	-1.793	0.010	.	-1.777	-3.985	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,7:49:99:.:.:197,324,2075,0,1751,1706	7	0	1	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,7:49:99:.:.:197,324,2075,0,1751,1706	7	0	1	2
chr15	20534697	20534697	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	53.17	67	chr15	20534697	.	C	T,*	53.17	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=1.89;DP=1389;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4609;MLEAC=1,12;MLEAF=0.026,0.316;MQ=46.42;MQRankSum=0.821;QD=0.07;ReadPosRankSum=-2.438e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,7:49:99:.:.:197,324,2075,0,1751,1706	7	0	1	2
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,7,0:49:99:.:.:197,0,1706,324,1751,2075	5	0	10	2
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L,	.	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1916,180,0	1	16	3	1
chr15	22543017	22543017	T	C	exonic	HERC2	.	unknown	UNKNOWN,	Mental retardation, autosomal recessive 38, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.988	D	.	.	.	.	.	.	.	.	-0.381	T	0.285	T	.	0.960	8.917	2.35	1.080	1.940	9.248	0.210	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774912336	3.213e-06	5.011e-06	1.613e-06	4.801e-06	5.368e-05	7.5e-07	5.1e-07	1.753e-05	1.044e-05	0	0	0	0	0	0	0	0	5.368e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	31.53	463	chr15	22543017	.	T	C	31.53	.	AC=2;AF=0.063;AN=32;DP=463;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8818;MLEAC=1;MLEAF=0.031;MQ=25.00;QD=15.76;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	15	1	0	5
chr15	22557078	22557078	C	T	exonic	HERC2	.	unknown	UNKNOWN,	Mental retardation, autosomal recessive 38, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs414268	0.0002	0.0015	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	0.0007	0.0001	0	0	0.0003	0.0002	0.0002	5.112e-05	2.981e-05	0.0003	2.899e-05	3.069e-05	7.638e-05	9.97e-06	5.7e-06	9.88e-06	3.69e-06	5.964e-05	0	7.638e-05	0	0	0	0	1.59e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	66.46	548	chr15	22557078	.	C	T	66.46	.	AC=2;AF=0.059;AN=34;DP=548;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9373;MLEAC=1;MLEAF=0.029;MQ=24.51;QD=22.15;SOR=2.833	GT:AD:DP:GQ:PL	1/1:0,3:3:9:87,9,0	16	1	0	4
chr15	22770740	22770740	T	-	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0	0	0.0004	0	0.0002	4.44e-05	0.0003	0.0004	0.0005	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0003	0	0	0.0004	0	0.0006	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	187.1	13	chr15	22770739	.	CT	C	187.1	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=211;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0345;MLEAC=1;MLEAF=0.024;MQ=58.41;MQRankSum=0.703;QD=23.39;ReadPosRankSum=2.37;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,5:8:99:0|1:22770739_CT_C:201,0,111:22770739	20	0	1	0
chr15	22770742	22770761	CTCCTGCTCCCGCATCTGCT	-	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0003	0.0003	0.0005	0.0003	0.0002	0.0003	0.0002	0.0003	0.0005	0	0	0.0004	0	0.0003	6.594e-05	0.0005	0.0007	0.0007	0.0007	0.0006	0.0011	0.0005	0.0005	0.0006	0.0005	0.0004	0	0.0011	0	0	0.0006	0	0.0007	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	188.31	14	chr15	22770741	.	CCTCCTGCTCCCGCATCTGCT	C	188.31	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.439;DP=209;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1789;MLEAC=2;MLEAF=0.083;MQ=58.84;MQRankSum=0.508;QD=20.92;ReadPosRankSum=2.37;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,5:9:99:0|1:22770739_CT_C:198,0,150:22770739	11	0	1	9
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3501.0	88	chr15	23361381	.	G	A,*	3501.0	.	AC=3,8;AF=0.071,0.190;AN=42;BaseQRankSum=-1.903e+00;DP=1729;ExcessHet=7.7275;FS=0.553;InbreedingCoeff=-0.3548;MLEAC=3,8;MLEAF=0.071,0.190;MQ=58.26;MQRankSum=0.843;QD=2.89;ReadPosRankSum=1.65;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:170,0,20:190:99:.:.:332,844,7831,0,6988,6924	10	0	3	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3879.31	36	chr15	23361385	.	C	*,G	3879.31	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-6.440e-01;DP=1602;ExcessHet=2.2868;FS=1.792;InbreedingCoeff=-0.1085;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.41;MQRankSum=-1.962e+00;QD=3.42;ReadPosRankSum=2.34;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:96,20,68:184:99:.:.:1636,1143,5865,0,1995,2438	11	0	6	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,30,32:108:99:.:.:1047,0,2190,241,474,1519	0	0	2	0
chr15	28387630	28387630	G	T	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon14:c.G702T:p.E234D	.	.	435	1072	14	1	0	16	0.00740741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00439297	0.0067	0.0021	0.0064	0	0.0011	0.0081	0.0099	0.0098	0.0012679	33	26028	rs529488406	0.0043	0.0039	0.0040	0.0045	0.0061	0.0042	0.0041	0.0056	0.0054	0.0013	0.0043	0.0025	2.711e-05	0.0010	0.0036	0.0049	0.0044	0.0061	0.0046	0.0051	0.0048	0.0043	0.0070	0.0043	0.0042	0.0060	0.0058	0.0020	0	0.0060	0.0027	0.0002	0.0006	0.0036	0.0065	0.0054	0.0070	.	.	.	0.027	0.55341	D	0.02	0.18235	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.108	0.09349	.	.	.	.	.	.	.	0.0078137815	0.00177	T	.	.	.	.	.	.	.	0.404248775258	0.40039	0.14430636717824866	0.14353	2.50542237494	0.97679	.	.	.	0.032031	0.22308	T	-0.45804	0.01011	T	-0.428246	0.30134	T	.	.	.	0.353365	0.08539	T	0.04717395	0.08021	0.045293212	0.06063	0.04717395	0.08021	0.045293212	0.06063	-3.473	0.16056	T	.	.	0.174	0.38099	B	.;.	.;.	1.928016	0.24484	16.41	0.81208873610338606	0.13573	0.00806	0.03275	N	AEFI	0.023505	0.01320	N	.	.	.	.	.	.	1.62757392034573E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.628	-1.26	0.08892	0.055000	0.14112	0.083000	0.14415	0.167000	0.17740	0.000000	0.06391	0.003000	0.18671	0.068000	0.16518	0.432:0.2624:0.3056:0.0	2.668	0.04743	405	0.82444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	207.15	31	chr15	28387630	.	G	T	207.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.670e-01;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.024;MQ=37.75;MQRankSum=-1.093e+00;QD=2.92;ReadPosRankSum=-1.970e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/1:56,15:71:99:221,0,1458	20	0	1	0
chr15	28560657	28560657	C	T	exonic	LOC100132202	.	nonsynonymous SNV	LOC100132202:NM_001365373:exon8:c.C1765T:p.R589W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	.	.	.	.	.	.	-0.942	T	0.095	T	.	-0.937	0.366	.	-1.187	-1.750	4.737	0.031	.	.	.	0.0011	0.0073	0	0	0	0.0001	0	0.0008	.	.	.	rs753358359	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0001	0.0034	0.0032	0.0040	0.0005	0	0	2.076e-05	0.0002	3.158e-05	0.0005	0.0005	0.0016	0.0017	0.0017	0.0014	0.0055	0.0014	0.0013	0.0048	0.0046	0.0055	0	0.0004	0	0.0004	0	0	7.103e-05	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	299.98	28	chr15	28560657	.	C	T	299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.701;DP=677;ExcessHet=0.0000;FS=2.555;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=36.77;MQRankSum=0.390;QD=6.25;ReadPosRankSum=-1.310e-01;SOR=0.399	GT:AD:DP:GQ:PL	0/1:32,16:48:99:314,0,703	20	0	1	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/1:0,68,0:71:99:2766,213,0,2557,220,2461	0	10	0	0
chr15	32394147	32394147	T	C	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon15:c.A1363G:p.M455V,	.	.	503	995	21	3	0	27	0.0133862	0.0069	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.017	T	0.048	T	0.109	0.272	5.473	-3.32	-1.410	1.015	4.048	0.033	.	.	0.00698882	0.0164	0.0077	0.0191	0	0.0140	0.0217	0.0162	0.0136	0.0013447	35	26028	rs201364836	0.0032	0.0071	0.0031	0.0034	0.0059	0.0031	0.0031	0.0050	0.0047	0.0059	0.0020	0.0010	7.269e-05	0.0034	0.0041	0.0033	0.0028	0.0045	0.0029	0.0046	0.0030	0.0029	0.0050	0.0026	0.0025	0.0041	0.0038	0.0050	0	0.0011	0.0018	0	0.0021	0	0.0028	0.0020	0.0031	.	.	.	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	0.999973	0.18612	N	.	.	.	.	.	.	.	.	.	0.317	0.35727	-1.0173	0.24592	T	0.048	0.20553	T	5	0.007897466	0.00179	T	.	.	.	0.033	0.08068	.	.	0.119812018005	0.11559	0.39501364062276695	0.39416	1.93239836197	0.93153	.	.	.	.	.	.	-0.54465	0.00314	T	-0.547595	0.17557	T	0.0171244791083947	0.00458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11172	B	.	.	1.013339	0.13924	10.48	0.72283640021614892	0.09919	0.58944	0.30779	D	AEFI	0.193844	0.32095	N	0.0343045522413628	0.43421	2.635398	-0.349025092461371	0.26539	1.46656	3.94332910653515E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.66	-3.32	0.04663	1.336000	0.33455	-0.262000	0.10418	0.215000	0.18024	1.000000	0.71638	0.340000	0.24418	0.126000	0.19410	0.0:0.2654:0.3053:0.4292	4.048	0.09262	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	0.025	173.39	28	chr15	32394147	.	T	C	173.39	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.674;DP=485;ExcessHet=0.0000;FS=1.666;InbreedingCoeff=-0.0291;MLEAC=1;MLEAF=0.025;MQ=44.45;MQRankSum=-3.469e+00;QD=5.78;ReadPosRankSum=-1.584e+00;SOR=1.106	GT:AD:DP:GQ:PL	0/1:21,9:30:99:187,0,579	19	0	1	1
chr15	32394208	32394208	C	G	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon15:c.G1302C:p.E434D,	.	.	436	1057	28	1	0	30	0.0139925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.026	T	0.034	T	0.045	-0.227	2.905	0.664	0.232	0.381	1.964	0.013	.	.	0.00958466	0.0171	0.0063	0.0093	0.0006	0.0208	0.0222	0.0161	0.0152	0.0116881	1807	154602	rs186020429	0.0012	0.0042	0.0011	0.0013	0.0019	0.0012	0.0011	0.0016	0.0015	0.0016	0.0007	0.0007	0.0001	0.0027	0.0014	0.0011	0.0014	0.0019	0.0019	0.0036	0.0019	0.0020	0.0027	0.0017	0.0017	0.0023	0.0021	0.0027	0	0.0004	0.0010	0.0003	0.0018	0	0.0020	0.0017	0.0022	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-1.0259	0.21788	T	0.034	0.14464	T	5	0.004268825	0.00085	T	.	.	.	0.013	0.01715	.	.	.	.	0.08551605836197455	0.08485	0.019005573398	0.01855	.	.	.	.	.	.	-0.641994	0.00081	T	-0.68133	0.06902	T	0.00542060920511947	0.00059	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24123	B	.	.	1.554518	0.19917	14.50	0.85348933866344978	0.15837	0.02889	0.07675	N	AEFI	0.085265	0.17283	N	-0.752977063059062	0.14552	0.7258756	-0.954551780017152	0.10818	0.5473082	1.15102790662991E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.66	0.664	0.17060	0.783000	0.26463	0.228000	0.16155	0.176000	0.17782	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.3154:0.4628:0.0:0.2218	1.964	0.03186	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	0.025	374.34	27	chr15	32394208	.	C	G	374.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.243;DP=653;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=48.12;MQRankSum=-4.764e+00;QD=8.14;ReadPosRankSum=1.56;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,12:46:99:0|1:32394191_T_C:388,0,1302:32394191	19	0	1	1
chr15	40367724	40367724	G	A	exonic	DISP2	.	nonsynonymous SNV	DISP2:NM_033510:exon8:c.G1612A:p.A538T,	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.045	B	0.028	B	0.000	D	0.673	D	0.055	N	-3.76	D	-0.116	T	0.591	D	0.374	0.783	8.129	4.66	1.362	3.001	4.258	0.317	0.0252637967093	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213871373	2.053e-06	3.42e-06	1.362e-06	2.751e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662	0.04671	T	1.0	0.01155	T	0.045	0.21781	B	0.028	0.21332	B	0.000004	0.62929	D	0.102292	0.672806	0.33159	D	-0.02	0.05091	N	-3.76	0.95561	D	0.09	0.05917	N	0.157	0.16308	-0.1160	0.79728	T	0.591	0.85377	D	10	0.10656673	0.19754	T	0.025264	0.48245	D	0.317	0.63904	0.414	0.45216	0.377799810692	0.37387	0.4864676588770443	0.48566	0.45656381799	0.45305	0.480903834105	0.36181	T	0.133716	0.46455	T	0.114825	0.65849	D	-0.0728389	0.65423	T	0.321873015128735	0.25898	T	0.824517	0.48627	T	0.079439	0.18149	0.08795738	0.20477	0.079439	0.18149	0.08795738	0.20477	-4.28	0.27896	T	.	.	0.085	0.09965	B	.	.	2.202686	0.28093	17.68	0.9236944990939322	0.21774	0.87805	0.47471	D	AEFDGBHCI	0.188959	0.31623	N	-0.315774357600242	0.28548	1.575571	-0.0908879631296138	0.35765	2.073135	0.999999998282465	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	5.58	4.66	0.57857	3.041000	0.49496	6.719000	0.56424	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2396:0.0:0.5939:0.1664	4.258	0.10174	706	0.57215	Sterol-sensing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2304.98	35	chr15	40367724	.	G	A	2304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.547e+00;DP=1037;ExcessHet=0.0000;FS=1.186;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-9.470e-01;SOR=0.594	GT:AD:DP:GQ:PL	0/1:81,91:172:99:2319,0,2087	20	0	1	0
chr15	41020980	41020980	C	T	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon26:c.G3194A:p.R1065Q,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.0	B	0.103	N	1.000	N	0	N	-2.74	D	-0.707	T	0.409	T	0.129	1.848	12.14	3.4	1.492	0.760	8.728	0.190	0.0320346917326	.	0.000199681	4.947e-05	0	0	0.0001	0	7.497e-05	0	0	4.53e-05	7	154602	rs199698267	2.941e-05	2.941e-05	2.995e-05	2.888e-05	0.0002	2.216e-05	1.97e-05	2.201e-05	1.942e-05	0	0	0	2.519e-05	0	0.0002	3.058e-05	8.279e-05	2.319e-05	5.253e-05	5.249e-05	5.14e-05	5.371e-05	0.0001	2.556e-05	1.829e-05	4.766e-05	3.339e-05	0	0	0	0	0	9.422e-05	0	0.0001	0	0	0.29	0.14996	T	0.614	0.07592	T	0.0	0.02946	B	0.0	0.01387	B	0.103247	0.19756	N	0.559787	1	0.08975	N	0.69	0.16971	N	-2.74	0.90735	D	-0.87	0.23590	N	0.183	0.19861	-0.7073	0.60085	T	0.409	0.75803	T	10	0.033840537	0.01571	T	0.032035	0.53969	D	0.190	0.46781	.	.	0.209943299407	0.20609	0.390321408508015	0.38947	0.38442944275	0.39743	0.267783582211	0.05853	T	0.035064	0.23569	T	-0.210688	0.19282	T	-0.348733	0.39349	T	0.0473793616276286	0.05033	T	0.756024	0.37907	T	0.08358709	0.19308	0.048098378	0.07073	0.08358709	0.19308	0.048098378	0.07073	-3.681	0.19038	T	.	.	0.075	0.05447	B	.;.;.	.;.;.	1.169907	0.15598	11.97	0.97666262924770109	0.35230	0.16539	0.19436	N	AEFGBHCI	0.066567	0.13042	N	-0.848299670498168	0.12092	0.5873277	-0.700953420432228	0.16936	0.8983077	0.999999975173842	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.692231	0.68500	0	.	.	5.35	3.4	0.38031	0.796000	0.26646	0.172000	0.15530	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.822000	0.38733	0.0:0.715:0.1371:0.1479	8.728	0.33641	182	0.92924	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2168.98	41	chr15	41020980	.	C	T	2168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.803;DP=952;ExcessHet=0.0000;FS=4.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=0.173;SOR=1.078	GT:AD:DP:GQ:PL	0/1:69,81:150:99:2183,0,1680	20	0	1	0
chr15	41873494	41873494	G	C	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon26:c.C5005G:p.Q1669E,	.	.	414	1107	1	0	0	1	0.000451467	0.0021	0.128	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.092	B	0.148	B	0.021	N	1.000	N	0.47	N	1.39	T	-0.999	T	0.039	T	0.091	0.830	8.346	0.206	0.200	0.532	3.824	0.050	0.00569868818485	0.0002	.	0.0011	0.0004	0	0	0	0.0003	0	0.0027	0.0001682	26	154602	rs201291451	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0002	0.0010	0.0009	6.335e-05	2.802e-05	0	0	0	0.0002	0.0002	1.725e-05	0.0012	0.0001	0.0001	0.0001	0.0001	0.0008	8.172e-05	6.728e-05	0.0003	0.0002	9.66e-05	0	0	0	0	0	0	0.0002	0	0.0008	0.281	0.15458	T	0.073	0.43159	T	0.092	0.25296	B	0.148	0.34065	B	0.020876	0.26948	N	0.344525	0.999987	0.18198	N	1.545	0.39105	L	1.39	0.33842	T	-1.29	0.32387	N	0.128	0.12198	-0.9992	0.30143	T	0.039	0.16806	T	10	0.013426214	0.00285	T	0.005699	0.14772	T	0.050	0.13987	.	.	0.334659703779	0.33074	0.03990688797673841	0.03936	.	.	0.290439337492	0.08986	T	0.007521	0.06921	T	-0.579799	0.00193	T	-0.640996	0.09596	T	0.0269021259871879	0.01530	T	0.394361	0.09853	T	0.096592784	0.22754	0.08057611	0.18238	0.096592784	0.22754	0.08057611	0.18237	-5.881	0.45273	T	.	.	0.083	0.09143	B	.	.	1.541065	0.19760	14.42	0.85416701021823593	0.15879	0.77143	0.37898	D	AEFDGBI	0.214267	0.33975	N	-0.819003885154086	0.12825	0.627681	-0.69635526793761	0.17051	0.9049238	0.633519053938771	0.21989	0.562547	0.31514	0	0.610034	0.51514	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.71	0.206	0.14485	0.448000	0.21443	2.144000	0.30864	-0.130000	0.13190	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0854:0.1214:0.2753:0.518	3.824	0.08362	197	0.92378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	633.98	33	chr15	41873494	.	G	C	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.685e+00;DP=775;ExcessHet=0.0000;FS=2.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.29;ReadPosRankSum=0.670;SOR=0.432	GT:AD:DP:GQ:PL	0/1:57,30:87:99:648,0,1617	20	0	1	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*,	.	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	78588.79	38	chr15	42685478	.	G	A,GTGAGCTCCAA	78588.79	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-2.021e+00;DP=5578;ExcessHet=2.0984;FS=0.534;InbreedingCoeff=-0.0714;MLEAC=13,1;MLEAF=0.310,0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-9.180e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:156,217,0:373:99:.:.:5084,0,4056,5552,4666,10219	9	2	9	0
chr15	42686047	42686047	A	T	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon23:c.A4469T:p.K1490M,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.077	U	0.998	N	1.525	L	-0.27	T	-0.703	T	0.263	T	0.498	3.669	18.65	4.73	2.234	2.609	7.833	0.214	0.110278131373	.	0.000199681	0.0010	0	0	0	0	0.0001	0	0.0023	0.0001294	20	154602	rs559447218	0.0002	0.0002	9.265e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0.0003	0	0	0.0012	7.415e-06	0.0004	0.0023	7.88e-05	7.874e-05	2.571e-05	0.0001	0.0021	4.494e-05	3.51e-05	0.0011	0.0009	0	0	0	0.0003	0	0	0	1.471e-05	0	0.0021	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.077325	0.21110	U	0.314197	0.997811	0.22494	N	2.015	0.55033	M	-0.27	0.67367	T	-1.91	0.44471	N	0.299	0.33796	-0.7034	0.60275	T	0.263	0.63361	T	8	0.02331701	0.00606	T	0.110278	0.78759	D	0.214	0.50650	.	.	0.687126406979	0.68444	0.2875749905124458	0.28670	.	.	0.350045114756	0.17929	T	0.025796	0.19218	T	-0.299928	0.08667	T	-0.210078	0.53690	T	0.0999524524151459	0.12352	T	0.762924	0.38892	T	0.20038092	0.42011	0.16114123	0.37497	0.20038092	0.42011	0.16114123	0.37496	-5.814	0.44696	T	.	.	0.323	0.54696	B	.	.	3.582778	0.50517	23.0	0.99417974726429814	0.63597	0.85152	0.44261	D	AEFBI	0.128946	0.24692	N	0.263657760805842	0.54318	3.597624	0.327140348471716	0.57140	3.878818	0.986872266955226	0.31142	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.85	4.73	0.59485	2.825000	0.47797	4.751000	0.44659	0.756000	0.94297	0.989000	0.36753	1.000000	0.68203	0.756000	0.36000	0.9098:0.0:0.0902:0.0	7.833	0.28513	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2618.98	38	chr15	42686047	.	A	T	2618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.581e+00;DP=1467;ExcessHet=0.0000;FS=5.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=0.017;SOR=0.622	GT:AD:DP:GQ:PL	0/1:86,95:181:99:2633,0,2471	20	0	1	0
chr15	43617907	43617907	C	-	exonic	STRC	.	frameshift deletion	STRC:NM_153700:exon2:c.514delG:p.A172Lfs*12,	Deafness, autosomal recessive 16, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	549.94	33	chr15	43617906	.	GC	G	549.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.812;DP=828;ExcessHet=0.0000;FS=5.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.49;MQRankSum=-3.400e-01;QD=4.44;ReadPosRankSum=0.959;SOR=1.329	GT:AD:DP:GQ:PL	0/1:99,25:124:99:564,0,3305	20	0	1	0
chr15	45155817	45155817	T	C	exonic	DUOX1	.	nonsynonymous SNV	DUOX1:NM_175940:exon28:c.T3590C:p.V1197A	.	.	5	1515	2	0	0	2	0.000659631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.005	B	0.375	N	0.507	D	0.215	N	-2.83	D	-0.079	T	0.496	T	0.272	2.729	15.08	4.14	1.840	7.801	11.425	0.248	0.0827920283603	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs767907268	6.841e-06	6.84e-06	2.723e-06	1.1e-05	2.236e-05	3.46e-06	2.52e-06	2.62e-06	1.68e-06	0	2.236e-05	0	0	0	0	6.295e-06	1.656e-05	1.159e-05	6.575e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.024	0.47745	D	0.02	0.58613	D	0.0	0.02946	B	0.005	0.11217	B	0.375374	0.13466	N	0.712633	0.50657	0.31785	D	0.785	0.19527	N	-2.83	0.91249	D	-1.61	0.42957	N	0.311	0.35301	-0.0786	0.80584	T	0.496	0.80927	T	10	0.31023526	0.48503	T	0.082792	0.73977	D	0.248	0.55615	0.559	0.67821	0.955887218751	0.95541	0.34809470714972557	0.34723	0.358911236811	0.37593	0.283554911613	0.07993	T	0.288671	0.66146	T	0.0663126	0.60397	T	-0.142523	0.59899	T	0.618920266628265	0.37161	D	0.672333	0.29175	T	0.19410108	0.41147	0.11833664	0.28565	0.19410108	0.41146	0.11833664	0.28564	-5.643	0.43959	T	.	.	0.092	0.14568	B	.;.;.	.;.;.	3.463070	0.48278	22.6	0.98971076254175039	0.49540	0.99612	0.97981	D	AEFDGBI	0.875805	0.79944	D	-0.226708221015987	0.32040	1.802846	-0.0740049987048612	0.36468	2.12274	0.999999996318112	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	4.14	4.14	0.47821	7.948000	0.87248	3.531000	0.38953	0.654000	0.53741	1.000000	0.71638	0.570000	0.25566	0.880000	0.42090	0.0:0.0:0.0:1.0	11.425	0.49245	616	0.66398	Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1676.98	34	chr15	45155817	.	T	C	1676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.262;DP=864;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-2.299e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:79,74:153:99:1691,0,1854	20	0	1	0
chr15	49897369	49897369	A	G	exonic	ATP8B4	.	nonsynonymous SNV	ATP8B4:NM_024837:exon23:c.T2620C:p.C874R,	.	.	434	1062	26	0	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.001	B	0.002	N	1.000	D	0.69	N	-0.46	T	-1.050	T	0.093	T	0.428	-0.474	1.814	0.616	-0.135	0.139	8.820	0.251	.	0.0063	0.00459265	0.0057	0.0107	0.0036	0	0.0009	0.0048	0.0066	0.0123	0.0053233	823	154602	rs74012834	0.0051	0.0051	0.0048	0.0053	0.0172	0.0050	0.0049	0.0144	0.0134	0.0113	0.0033	0.0141	2.519e-05	0.0011	0.0172	0.0044	0.0066	0.0126	0.0062	0.0062	0.0063	0.0061	0.0122	0.0058	0.0057	0.0098	0.0095	0.0107	0.0033	0.0033	0.0173	0	0.0006	0.0204	0.0044	0.0057	0.0122	0.743	0.03663	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002321	0.36806	N	0.297818	0.999992	0.58761	D	-0.24	0.03895	N	-0.46	0.70014	T	-2.3	0.51157	N	0.494	0.54147	-1.0498	0.14453	T	0.093	0.35498	T	10	0.0073461235	0.00167	T	.	.	.	0.251	0.56024	.	.	0.474876406573	0.47116	0.7498061658044117	0.74927	0.0839836201128	0.09469	0.611285686493	0.54498	T	0.002077	0.01480	T	-0.441836	0.01261	T	-0.397056	0.33727	T	0.00396578209425917	0.00042	T	0.541546	0.18382	T	0.32305837	0.54897	0.31807154	0.57777	0.32305837	0.54897	0.31807154	0.57776	-4.519	0.31136	T	.	.	0.160	0.37024	B	.;.	.;.	1.190218	0.15813	12.12	0.54972148563145007	0.05246	0.18959	0.20471	N	AEFGI	0.226863	0.35075	N	-0.800004472418187	0.13311	0.6547919	-0.688715170324367	0.17242	0.9159305	0.997071151456392	0.35252	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	0.616	0.16789	0.137000	0.15816	1.461000	0.26681	0.756000	0.94297	0.005000	0.17040	0.877000	0.27660	0.997000	0.79791	0.6935:0.0:0.3065:0.0	8.820	0.34182	386	0.83455	P-type ATPase, C-terminal;P-type ATPase, 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	0.02381	903.98	38	chr15	49897369	.	A	G	903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=787;ExcessHet=0.0000;FS=4.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-4.200e-01;SOR=1.328	GT:AD:DP:GQ:PL	0/1:39,39:78:99:918,0,862	20	0	1	0
chr15	63983656	63983656	C	T	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001363730:exon3:c.G191A:p.R64H	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.976	D	0.545	P	0.000	D	1.000	D	1.12	L	-0.21	T	-0.479	T	0.270	T	0.573	4.080	21.0	5.31	2.499	7.773	18.049	0.388	0.0417173463983	.	.	3.313e-05	0	0	0.0001	0	1.508e-05	0	0.0001	2.59e-05	4	154602	rs767183532	4.789e-05	4.788e-05	5.037e-05	4.538e-05	8.115e-05	3.86e-05	3.54e-05	4.091e-05	3.741e-05	2.987e-05	4.472e-05	0	0	0	0	5.216e-05	3.311e-05	8.115e-05	3.285e-05	3.283e-05	1.284e-05	5.379e-05	7.238e-05	1.261e-05	7.98e-06	1.919e-05	1.032e-05	7.238e-05	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.045	0.72154	D	0.051	0.52060	T	0.933	0.52105	P	0.545	0.49043	P	0.000006	0.62929	D	0.000000	1	0.81001	D	1.34	0.33385	L	-0.21	0.66294	T	-3.9	0.80085	D	0.715	0.71765	-0.4794	0.69388	T	0.270	0.64151	T	10	0.47056982	0.59836	T	0.041717	0.60078	D	0.388	0.70440	.	.	0.696367886986	0.69375	0.5817436487231649	0.58103	0.635556648549	0.57368	0.618711352348	0.55546	T	0.087764	0.38012	T	-0.0885774	0.38311	T	-0.13931	0.60178	T	0.5997194647789	0.36389	D	0.992701	0.97746	D	0.436964	0.63206	0.31405827	0.57399	0.436964	0.63207	0.31405827	0.57399	-12.232	0.85963	D	.	.	0.65	0.71628	P	.;.;.;.;.	.;.;.;.;.	5.840778	0.93778	33	0.99923452670792523	0.98917	0.95205	0.63827	D	AEFDGBCI	0.951669	0.96644	D	0.435391483661642	0.63381	4.570582	0.453733640733893	0.64957	4.763338	1.0	0.98316	0.65861	0.49226	0	0.659037	0.61890	0	0.725225	0.93170	0	0.638833	0.57524	0	.	.	5.31	5.31	0.75063	7.905000	0.86479	7.637000	0.63009	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.676000	0.33425	0.0:1.0:0.0:0.0	18.049	0.89268	114	0.95383	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1575.98	41	chr15	63983656	.	C	T	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.913;DP=842;ExcessHet=0.0000;FS=1.434;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.369;SOR=0.861	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1590,0,1455	20	0	1	0
chr15	65021558	65021558	C	T	exonic	MTFMT	.	nonsynonymous SNV	MTFMT:NM_139242:exon4:c.G601A:p.A201T,	Combined oxidative phosphorylation deficiency 15, Autosomal recessive	.	0	1469	53	0	0	53	0.0177198	.	.	373617	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.22	T	0.032	B	0.028	B	0.011	N	1.000	N	1.035	L	-1.17	T	-0.956	T	0.217	T	0.119	-0.079	3.615	-3.78	-1.138	0.804	6.067	0.155	.	0.0022	0.0289537	0.0194	0.0010	0.0035	0.0001	0.0006	0.0036	0.0167	0.1229	0.0168562	2606	154602	rs111388106	0.0091	0.0091	0.0058	0.0124	0.1177	0.0090	0.0089	0.1158	0.1150	0.0013	0.0020	0.0247	0.0003	0.0007	0.0219	0.0013	0.0118	0.1177	0.0058	0.0058	0.0038	0.0080	0.1226	0.0055	0.0054	0.1144	0.1111	0.0014	0	0.0013	0.0213	0.0010	0.0005	0.0170	0.0017	0.0038	0.1226	0.421	0.09806	T	0.496	0.11335	T	0.032	0.20242	B	0.028	0.21332	B	0.010992	0.29704	N	0.368723	1	0.08975	N	1.22	0.30592	L	-1.17	0.78199	T	-1.21	0.30762	N	0.064	0.03613	-0.9557	0.39970	T	0.217	0.57889	T	10	0.0017339289	0.00022	T	.	.	.	0.155	0.40530	.	.	.	.	0.5269698549025971	0.52620	0.130447682833	0.14714	0.283238589764	0.07948	T	0.43229	0.78011	T	-0.538316	0.00343	T	-0.449314	0.27773	T	0.000675677817288847	0.00006	T	.	.	.	0.044039093	0.06971	0.0742552	0.16224	0.044039093	0.06970	0.0742552	0.16224	-5.088	0.37780	T	0.2845219580732088	0.38032	0.125	0.26357	B	.	.	1.017392	0.13970	10.53	0.41439759573103024	0.02990	0.32598	0.24624	N	AEFBI	0.061479	0.11756	N	-1.03140795617771	0.07958	0.3714525	-1.09977024481206	0.07706	0.3758609	0.91872541865674	0.26581	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.61	-3.78	0.04049	0.952000	0.28747	-0.156000	0.11370	-0.182000	0.10109	0.341000	0.25683	0.000000	0.08366	0.876000	0.41813	0.4844:0.3263:0.0:0.1893	6.067	0.19091	293	0.88320	Formyl transferase, 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	1	0	0.02381	639.98	34	chr15	65021558	.	C	T	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-01;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.36;ReadPosRankSum=1.72;SOR=0.755	GT:AD:DP:GQ:PL	0/1:55,32:87:99:654,0,1323	20	0	1	0
chr15	74411586	74411586	C	A	exonic	SEMA7A	.	nonsynonymous SNV	SEMA7A:NM_001146029:exon11:c.G1505T:p.G502V	.	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.012	B	0.014	B	0.906	N	0.991	N	1.21	L	1.82	T	-0.993	T	0.050	T	0.328	0.429	6.329	0.907	-0.120	0.736	7.367	0.038	0.0106366223223	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0012	0.0001617	25	154602	rs530718355	0.0001	0.0001	8.145e-05	0.0001	0.0010	9.36e-05	8.816e-05	0.0008	0.0007	3.043e-05	4.809e-05	0	0	0	0.0007	5.461e-05	0.0001	0.0010	8.535e-05	8.53e-05	7.708e-05	9.399e-05	0.0004	4.953e-05	3.96e-05	7.29e-05	5.088e-05	0	0	0.0001	0	0	0	0	0.0001	0	0.0004	0.111	0.46513	T	0.012	0.63918	D	0.012	0.16265	B	0.014	0.16862	B	0.906076	0.07385	N	1.045150	0.998592	0.24029	N	1.485	0.37223	L	1.82	0.25018	T	-1.41	0.35194	N	0.264	0.33687	-0.9927	0.31906	T	0.050	0.21261	T	10	0.020748913	0.00484	T	0.010637	0.27409	T	0.038	0.09825	.	.	0.208000267992	0.20380	0.6733882856364833	0.67276	0.763568361251	0.64387	0.326659679413	0.14430	T	0.086163	0.37663	T	-0.449289	0.01140	T	-0.499933	0.22353	T	0.0181374827356537	0.00535	T	0.823718	0.48487	T	0.09892484	0.23340	0.07540131	0.16595	0.09892484	0.23340	0.07540131	0.16595	-6.828	0.57045	T	.	.	0.264	0.50110	B	.;.;.	.;.;.	1.968353	0.25002	16.60	0.92071206098467306	0.21418	0.33297	0.24794	N	AEFGBHCI	0.141117	0.26320	N	-0.903990427741286	0.10748	0.5151527	-0.863429081578559	0.12965	0.6699732	0.999998115592128	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.5	0.907	0.18450	0.328000	0.19425	2.271000	0.31831	-0.249000	0.07183	0.000000	0.06391	1.000000	0.68203	0.907000	0.44265	0.0:0.5195:0.0:0.4805	7.367	0.25952	814	0.42100	PSI domain;PSI domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	861.98	37	chr15	74411586	.	C	A	861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.989;DP=806;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-6.190e-01;SOR=0.880	GT:AD:DP:GQ:PL	0/1:42,33:75:99:876,0,1061	20	0	1	0
chr15	82344935	82344935	G	0	exonic	GOLGA6L10	.	.	.	.	.	531	861	98	1	31	131	0.0548847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	326.23	37	chr15	82344935	.	G	A,*	326.23	.	AC=1,5;AF=0.025,0.125;AN=40;DP=1617;ExcessHet=1.8958;FS=22.164;InbreedingCoeff=-0.0857;MLEAC=1,5;MLEAF=0.025,0.125;MQ=34.00;QD=0.61;SOR=1.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:40,0,26:66:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:665,784,2173,0,1389,1304:82344920	14	0	1	1
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	976.39	35	chr15	82344942	.	T	C,*	976.39	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.59;DP=1794;ExcessHet=0.5718;FS=29.828;InbreedingCoeff=-0.0755;MLEAC=4,9;MLEAF=0.250,0.563;MQ=47.54;MQRankSum=-4.628e+00;QD=1.84;ReadPosRankSum=1.21;SOR=1.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:40,0,26:66:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:665,784,2173,0,1389,1304:82344920	2	1	0	13
chr15	82344983	82344983	A	0	exonic	GOLGA6L10	.	.	.	.	.	756	655	109	0	2	111	0.0768147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	49.01	27	chr15	82344983	.	A	*,G	49.01	.	AC=5,1;AF=0.167,0.033;AN=30;BaseQRankSum=-9.670e-01;DP=1596;ExcessHet=0.1504;FS=28.441;InbreedingCoeff=0.0481;MLEAC=6,1;MLEAF=0.200,0.033;MQ=38.57;MQRankSum=0.118;QD=0.10;ReadPosRankSum=-5.820e-01;SOR=1.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,26,0:66:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:665,0,1304,784,1389,2173:82344920	10	0	4	6
chr15	82344984	82344984	C	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	48.58	9	chr15	82344984	.	C	*,T	48.58	.	AC=6,1;AF=0.188,0.031;AN=32;BaseQRankSum=-9.670e-01;DP=1652;ExcessHet=0.3087;FS=24.087;InbreedingCoeff=-0.0422;MLEAC=7,1;MLEAF=0.219,0.031;MQ=46.42;MQRankSum=0.118;QD=0.08;ReadPosRankSum=-4.680e-01;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,26,0:66:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:665,0,1304,784,1389,2173:82344920	10	0	5	5
chr15	82345004	82345046	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	718.55	4	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	*,A,GTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	718.55	.	AC=4,1,1;AF=0.200,0.050,0.050;AN=20;BaseQRankSum=1.91;DP=1733;ExcessHet=2.6804;FS=27.756;InbreedingCoeff=-0.1646;MLEAC=7,2,2;MLEAF=0.350,0.100,0.100;MQ=47.51;MQRankSum=-6.640e+00;QD=1.18;ReadPosRankSum=-1.278e+00;SOR=1.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,26,0,0:66:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:665,0,1304,784,1389,2173,784,1389,2173,2173:82344920	4	0	4	11
chr15	82345005	82345005	T	0	exonic	GOLGA6L10	.	.	.	.	.	50	129	12	1	34	48	0.0514706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	40.9	8	chr15	82345005	.	T	C,*	40.9	.	AC=1,5;AF=0.038,0.192;AN=26;BaseQRankSum=0.967;DP=1706;ExcessHet=2.4752;FS=28.441;InbreedingCoeff=-0.0786;MLEAC=1,7;MLEAF=0.038,0.269;MQ=32.71;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-9.670e-01;SOR=1.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:40,0,26:66:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:665,784,2173,0,1389,1304:82344920	7	0	1	8
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	307.4	24	chr15	82345025	.	G	A,*	307.4	.	AC=1,5;AF=0.026,0.132;AN=38;DP=1749;ExcessHet=2.0135;FS=30.096;InbreedingCoeff=-0.1941;MLEAC=1,5;MLEAF=0.026,0.132;MQ=37.25;QD=0.49;SOR=1.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:40,0,26:66:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:665,784,2173,0,1389,1304:82344920	13	0	1	2
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,37,10:95:99:1|0:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:958,0,1428,868,1238,4332:82344920	11	0	5	2
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,37,10:95:99:1|0:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:958,0,1428,868,1238,4332:82344920	11	0	5	2
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1995.03	118	chr15	82345087	.	C	T,*	1995.03	.	AC=3,4;AF=0.083,0.111;AN=36;BaseQRankSum=0.682;DP=2432;ExcessHet=2.7391;FS=0.630;InbreedingCoeff=-0.2500;MLEAC=3,4;MLEAF=0.083,0.111;MQ=38.42;MQRankSum=-1.259e+00;QD=2.52;ReadPosRankSum=-2.066e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,32,10:89:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:797,0,1450,627,1169,3087:82344920	11	0	3	3
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4524.06	139	chr15	84512452	.	C	T,*	4524.06	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-4.670e-01;DP=3555;ExcessHet=11.8493;FS=1.281;InbreedingCoeff=-0.4584;MLEAC=5,8;MLEAF=0.119,0.190;MQ=45.57;MQRankSum=1.25;QD=1.92;ReadPosRankSum=0.576;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,26,0:145:99:.:.:343,0,3960,753,4129,5326	8	0	5	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	1/1:0,121,0:121:99:4016,363,0,4016,363,4016	0	11	9	0
chr15	85722278	85722278	A	C	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_001270546:exon17:c.A2290C:p.I764L	.	.	422	1086	14	0	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.994	D	.	.	1.000	D	1.49	L	1.08	T	-0.745	T	0.210	T	0.632	5.295	34	5.69	2.150	7.161	15.117	0.266	.	.	0.00379393	0.0022	0	8.637e-05	0.0001	0	4.506e-05	0	0.0159	0.0018823	291	154602	rs565146846	0.0009	0.0009	0.0005	0.0014	0.0150	0.0009	0.0009	0.0143	0.0141	0	8.955e-05	0	5.038e-05	0	0.0021	8.994e-06	0.0008	0.0150	0.0005	0.0005	0.0002	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0003	0	0	0	0	0	0	0.0145	0.017	0.51248	D	0.013	0.66756	D	0.997	0.70673	D	0.994	0.82059	D	.	.	.	.	0.999998	0.58761	D	2.135	0.59519	M	1.08	0.39401	T	-1.8	0.42384	N	0.549	0.65673	-0.7447	0.58211	T	0.210	0.56959	T	9	0.010322779	0.00230	T	.	.	.	0.266	0.57999	0.601	0.73226	0.547203082319	0.54374	0.42333860662965694	0.42250	0.269806196692	0.29503	0.762062847614	0.76236	T	0.104875	0.41484	T	-0.308529	0.07878	T	-0.203633	0.54302	T	0.0645808325575353	0.07869	T	0.909909	0.80719	D	0.4407101	0.63448	0.2719383	0.53099	0.4407101	0.63448	0.2719383	0.53098	-10.38	0.76155	D	.	.	0.355	0.59211	A	.;.;.;.;.	.;.;.;.;.	4.047833	0.59975	24.2	0.99454272035467284	0.65427	0.98982	0.89513	D	AEFDGBI	0.865030	0.78399	D	0.707371698086689	0.80118	7.223529	0.719570014819262	0.83864	8.135223	0.999999999998743	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	7.147000	0.76970	9.285000	0.79745	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.117	0.72085	763	0.50172	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;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5986.11	33	chr15	85722278	.	A	C	5986.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.93;DP=1099;ExcessHet=0.1072;FS=0.529;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=1.05;SOR=0.740	GT:AD:DP:GQ:PL	0/1:113,97:210:99:2567,0,3031	19	0	2	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.505	P	0.383	B	0.000	D	1.000	D	1.175	L	.	.	-0.761	T	0.199	T	0.564	3.915	19.91	6.17	2.371	7.297	16.003	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	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	499.17	33	chr15	88530840	.	T	C	499.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.938e+00;DP=1723;ExcessHet=1.1607;FS=140.205;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=0.604;SOR=10.408	GT:AD:DP:GQ:PL	0/1:91,30:121:99:100,0,1797	15	0	5	1
chr15	88913307	88913307	G	T	exonic	MFGE8	.	nonsynonymous SNV	MFGE8:NM_001114614:exon1:c.C13A:p.R5S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.989	D	0.368	N	0.965	N	0	N	-4.76	D	0.609	D	0.907	D	0.465	-0.447	1.925	1.92	0.270	-0.296	8.843	0.395	.	.	0.000599042	0.0010	0	0	0	.	0.0012	0	0.0010	0.0003752	58	154602	rs541808249	0.0031	0.0029	0.0032	0.0030	0.0037	0.0030	0.0030	0.0034	0.0034	0.0005	0.0037	0	0	0.0030	0.0015	0.0035	0.0030	0.0007	0.0023	0.0023	0.0024	0.0022	0.0036	0.0021	0.0021	0.0031	0.0030	0.0005	0	0.0036	0	0	0.0029	0.0068	0.0035	0.0043	0.0006	0.05	0.91255	D	0.057	0.46406	T	0.98	0.59353	D	0.894	0.63417	P	0.368314	0.04346	N	1.382810	1	0.25939	N	2.005	0.54552	M	-4.92	0.98371	D	-0.56	0.18459	N	0.185	0.23758	0.609	0.92020	D	0.907	0.96902	D	10	0.012726665	0.00272	T	.	.	.	0.395	0.71004	.	.	0.913854725395	0.91299	0.7229690774450754	0.72240	0.155256707888	0.17525	0.630314350128	0.57190	T	0.080609	0.36404	T	-0.174961	0.24489	T	-0.0268326	0.68578	D	0.0265965448380309	0.01487	T	0.568443	0.20183	T	0.085971884	0.19964	0.070137635	0.14867	0.085971884	0.19963	0.070137635	0.14866	-4.393	0.29462	T	.	.	0.324	0.55025	B	.;.;.;.;.	.;.;.;.;.	0.857941	0.12304	8.843	0.81081382692621717	0.13510	0.17658	0.19932	N	ALL	0.087166	0.17675	N	-0.931887144734954	0.10103	0.4811884	-1.07958604819307	0.08103	0.3969441	0.999999999999989	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.86	1.92	0.24912	-0.260000	0.08730	0.234000	0.16225	-1.205000	0.01357	0.002000	0.15269	0.957000	0.29195	0.182000	0.21359	0.1284:0.0:0.8716:0.0	8.843	0.34312	958	0.09170	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	926.11	27	chr15	88913307	.	G	T	926.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.784;DP=546;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=0.985;SOR=0.654	GT:AD:DP:GQ:PL	0/1:7,17:24:99:366,0,138	19	0	2	0
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:30,26,0,0:56:99:901,0,1064,993,1142,2135,993,1142,2135,2135	8	0	10	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203057	Inborn_genetic_diseases|not_specified|Hereditary_spastic_paraplegia|POLG-related_disorder|Progressive_sclerosing_poliodystrophy|not_provided|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MedGen:C3661900|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:30,26,0,0:56:99:901,0,1064,993,1142,2135,993,1142,2135,2135	8	0	10	0
chr15	89333605	89333605	-	TGCTGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCAGCA:p.Q55_P56insQQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:30,26,0,0:56:99:901,0,1064,993,1142,2135,993,1142,2135,2135	8	0	10	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,43:43:99:.:.:1875,1875,1875,130,130,0	0	0	0	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	1/1:0,89,0,0:89:99:3931,269,0,3931,269,3931,3931,269,3931,3931	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	1/1:0,89,0,0:89:99:3931,269,0,3931,269,3931,3931,269,3931,3931	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	1/1:0,89,0,0:89:99:3931,269,0,3931,269,3931,3931,269,3931,3931	8	2	8	0
chr15	101382107	101382107	G	A	exonic	PCSK6	.	nonsynonymous SNV	PCSK6:NM_002570:exon11:c.C1517T:p.S506L	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.01	B	0.008	B	0.759	N	1.000	N	1.355	L	-0.09	T	-0.937	T	0.223	T	0.134	-0.970	0.307	1.44	0.077	1.489	8.632	0.031	.	0.0002	0.00319489	0.0022	0.0004	0.0004	0	0	0.0013	0	0.0092	0.0012096	187	154602	rs368822674	0.0009	0.0009	0.0006	0.0011	0.0075	0.0008	0.0008	0.0070	0.0068	0.0002	0.0001	0.0047	2.53e-05	7.545e-05	0.0026	0.0004	0.0012	0.0075	0.0007	0.0007	0.0006	0.0008	0.0112	0.0006	0.0005	0.0088	0.0079	7.215e-05	0	6.534e-05	0.0043	0	0	0	0.0005	0	0.0112	.	.	.	0.615	0.19908	T	0.002	0.15535	B	0.001	0.13708	B	0.758521	0.09642	N	0.888150	1	0.08975	N	1.92	0.51302	L	.	.	.	.	.	.	0.099	0.09914	-0.9373	0.43041	T	0.223	0.58716	T	10	0.0041293204	0.00081	T	.	.	.	0.031	0.07369	.	.	0.357929162469	0.35400	0.3037980816012562	0.30292	.	.	0.369783133268	0.20800	T	0.406137	0.76212	T	-0.52956	0.00386	T	-0.529447	0.19341	T	0.00742694575437744	0.00086	T	0.630137	0.25202	T	0.04557692	0.07485	0.05550379	0.09747	0.04557692	0.07484	0.05550379	0.09746	-3.889	0.33441	T	.	.	0.077	0.09239	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.327746	0.17323	13.10	0.73189510091877341	0.10239	0.11505	0.16678	N	AEFDGBI	0.207814	0.33395	N	-0.975912957793345	0.09120	0.4303329	-0.981011834134197	0.10212	0.5128923	0.999997687273866	0.74766	0.653281	0.48532	0	0.59043	0.45803	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	5.49	1.44	0.21647	1.487000	0.35149	1.975000	0.30006	-0.105000	0.15698	0.003000	0.16062	0.011000	0.20116	0.126000	0.19410	0.3368:0.0:0.6632:0.0	8.632	0.33090	945	0.12563	P domain;.;P domain;P domain;.;.;P domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2071.98	33	chr15	101382107	.	G	A	2071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=879;ExcessHet=0.0000;FS=1.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-1.290e-01;SOR=0.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,83:167:99:0|1:101382107_G_A:2086,0,3238:101382107	20	0	1	0
chr16	58642	58642	G	T	exonic	RHBDF1	.	nonsynonymous SNV	RHBDF1:NM_022450:exon18:c.C2266A:p.L756I,	.	.	91	1411	18	2	0	22	0.00773558	.	.	2814548	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.011	B	0.02	B	0.000	D	1.000	D	0.75	N	2.68	T	-1.067	T	0.027	T	0.241	2.249	13.48	5.16	2.559	6.379	13.026	0.058	0.00460238206405	0.0007	0.000399361	0.0014	0.0003	0.0002	0.0001	0.0002	0.0007	0.0034	0.0065	0.0011643	180	154602	rs148360562	0.0009	0.0009	0.0007	0.0011	0.0060	0.0008	0.0008	0.0056	0.0054	8.962e-05	0.0003	0.0020	2.519e-05	0.0004	0.0038	0.0005	0.0016	0.0060	0.0007	0.0007	0.0006	0.0009	0.0052	0.0006	0.0006	0.0036	0.0031	0.0002	0	0.0006	0.0012	0	9.409e-05	0.0034	0.0008	0.0009	0.0052	0.091	0.31834	T	0.263	0.22828	T	0.011	0.15914	B	0.02	0.19048	B	0.000003	0.62929	D	0.062992	0.999999	0.58761	D	0.43	0.12624	N	2.68	0.12371	T	-0.97	0.25770	N	0.345	0.38643	-1.0669	0.10108	T	0.027	0.11529	T	10	0.009865195	0.00221	T	0.004602	0.11377	T	0.058	0.16647	.	.	0.389904358541	0.38601	0.6715495082597701	0.67092	0.397191797738	0.40813	0.770371556282	0.77480	T	0.026472	0.19585	T	-0.516724	0.00460	T	-0.512681	0.21039	T	0.0145079439173998	0.00295	T	0.845015	0.52334	T	0.23936243	0.46826	0.17322394	0.39634	0.23936243	0.46826	0.17322394	0.39633	-6.854	0.52959	T	.	.	0.076	0.06159	B	.	.	3.225608	0.43964	21.8	0.97881698092466374	0.36607	0.94049	0.59959	D	AEFGBCI	0.807296	0.73137	D	0.0245131169388764	0.42970	2.599375	0.226688554953826	0.51335	3.316789	0.999999412838948	0.74766	0.67177	0.52595	0	0.379588	0.06130	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	6.495000	0.73573	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.839:0.161	13.026	0.58221	.	.	Peptidase S54, rhomboid domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1228.98	40	chr16	58642	.	G	T	1228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.498e+00;DP=865;ExcessHet=0.0000;FS=2.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=0.833;SOR=1.029	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1243,0,1162	20	0	1	0
chr16	285639	285639	G	T	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon7:c.G1055T:p.G352V,	.	.	428	1075	16	3	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.003	B	0.012	B	0.520	N	1.000	N	1.265	L	1.57	T	-1.019	T	0.033	T	0.034	0.794	8.183	-0.402	0.054	-0.817	1.481	0.008	.	0.0083	0.00419329	0.0072	0.0015	0.0079	0	0.0018	0.0097	0.0068	0.0064	0.0002305	6	26028	rs45503792	0.0098	0.0098	0.0100	0.0097	0.0225	0.0097	0.0096	0.0194	0.0182	0.0016	0.0065	0.0176	2.519e-05	0.0020	0.0225	0.0109	0.0099	0.0067	0.0067	0.0067	0.0071	0.0063	0.0102	0.0064	0.0063	0.0096	0.0094	0.0016	0	0.0088	0.0164	0	0.0013	0.0204	0.0102	0.0100	0.0064	0.181	0.22312	T	0.206	0.27056	T	0.003	0.11197	B	0.012	0.16012	B	0.520003	0.11752	N	0.740642	0.999987	0.18198	N	0.69	0.16971	N	1.57	0.29342	T	-1.08	0.32185	N	0.276	0.34012	-1.0187	0.24139	T	0.033	0.14290	T	10	0.0054662824	0.00121	T	.	.	.	0.008	0.00669	.	.	0.443592365053	0.43979	0.6415922339958753	0.64094	.	.	0.279388546944	0.07407	T	0.010246	0.09270	T	-0.707104	0.00033	T	-0.780521	0.02437	T	0.000488358014770727	0.00004	T	0.351165	0.07832	T	0.0505334	0.09144	0.048384853	0.07176	0.0505334	0.09144	0.048384853	0.07175	-5.638	0.43138	T	.	.	0.109	0.20972	B	.;.	.;.	0.361561	0.07345	3.959	0.63484829541354748	0.07236	0.11698	0.16804	N	AEFDBHCI	0.219139	0.34406	N	-1.166551311178	0.05513	0.2515177	-1.23007797063242	0.05432	0.2588389	4.43596185538615E-4	0.07004	0.646311	0.45356	0	0.524598	0.11158	1	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.13	-0.402	0.11786	-0.132000	0.10446	-0.102000	0.11930	-0.812000	0.03057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2689:0.1372:0.4446:0.1492	1.481	0.02290	758	0.50837	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1289.98	48	chr16	285639	.	G	T	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-02;DP=936;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-4.360e-01;SOR=0.740	GT:AD:DP:GQ:PL	0/1:70,57:127:99:1304,0,1641	20	0	1	0
chr16	563949	563949	C	G	exonic	PRR35	.	nonsynonymous SNV	PRR35:NM_145270:exon2:c.C655G:p.L219V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.993	D	0.024	N	0.947	D	2.135	M	2.97	T	-1.062	T	0.074	T	0.304	2.795	15.31	3.58	1.144	3.732	11.561	0.094	0.0577743053364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.584e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.037	0.51737	D	1.0	0.90584	D	0.993	0.81110	D	0.024294	0.26288	N	0.214129	0.946919	0.37547	D	2.05	0.56469	M	2.97	0.09450	T	-1.69	0.40274	N	0.571	0.59393	-1.0622	0.11215	T	0.074	0.29897	T	10	0.53313464	0.63297	D	0.057774	0.67084	D	0.094	0.27141	0.297	0.26202	0.289098819767	0.28531	0.5997736647859748	0.59908	0.535643185205	0.50923	.	.	.	0.100833	0.40701	T	-0.122123	0.32777	T	-0.413197	0.31857	T	0.925262749195099	0.58689	D	0.705929	0.31637	T	0.33919504	0.56216	0.5779605	0.75544	0.33919504	0.56216	0.5779605	0.75545	-8.823	0.66551	D	.	.	0.153	0.33846	B	.	.	3.619915	0.51223	23.1	0.99698577465509552	0.80453	0.98346	0.81852	D	AEFDGBI	0.635073	0.61472	D	0.333936684801608	0.57897	3.959106	0.195429471381934	0.49595	3.160893	0.999999282589919	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.53	3.58	0.40133	2.576000	0.45698	1.715000	0.28221	0.599000	0.40250	0.956000	0.33378	0.912000	0.28152	0.729000	0.35066	0.0:0.9136:0.0:0.0864	11.561	0.50031	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	30.98	37	chr16	563949	.	C	G	30.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.627e+00;DP=908;ExcessHet=0.0000;FS=31.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=0.285;SOR=4.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,9:66:45:0|1:563948_C_G:45,0,2234:563948	20	0	1	0
chr16	685271	685271	C	T	exonic	WDR24	.	nonsynonymous SNV	WDR24:NM_032259:exon7:c.G2005A:p.D669N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.922	D	0.000	D	1.000	D	1.78	L	0.17	T	-0.058	T	0.542	D	0.118	5.037	29.8	4.77	2.480	5.501	16.941	0.193	0.109234200493	7.7e-05	.	1.728e-05	0	0	0	0	3.136e-05	0	0	1.29e-05	2	154602	rs376665117	6.937e-07	1.368e-06	0	1.399e-06	9.074e-07	0	0	.	.	0	0	0	0	0	0	9.074e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.21968	T	0.274	0.25670	T	0.999	0.77913	D	0.922	0.65739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	0.17	0.79277	T	-1.19	0.34992	N	0.84	0.83576	-0.0579	0.81038	T	0.542	0.83122	D	10	0.3384763	0.50952	T	0.109234	0.78612	D	0.193	0.47281	.	.	0.829515063205	0.82789	0.4481674512621745	0.44734	1.20363846832	0.80614	0.744740247726	0.73669	T	0.021079	0.16480	T	-0.059337	0.43010	T	-0.32301	0.42243	T	0.904985785484314	0.55860	D	0.922208	0.71716	D	0.21362074	0.43745	0.16749293	0.38638	0.21362074	0.43745	0.16749293	0.38637	.	.	.	.	.	0.145	0.31956	B	.;.;.	.;.;.	5.420470	0.90688	31	0.99903533149009149	0.97502	0.91971	0.54660	D	AEFDBHCI	0.566224	0.57229	D	0.586651396740301	0.72339	5.790448	0.573801007755239	0.73068	5.910301	0.999999999997536	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	4.77	4.77	0.60425	5.736000	0.68239	7.565000	0.60571	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	16.941	0.86086	628	0.65206	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1937.98	37	chr16	685271	.	C	T	1937.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=-2.001e+00;SOR=0.672	GT:AD:DP:GQ:PL	0/1:77,74:151:99:1952,0,1887	20	0	1	0
chr16	697179	697179	G	A	exonic	FBXL16	.	nonsynonymous SNV	FBXL16:NM_153350:exon2:c.C227T:p.P76L,	.	.	443	1060	18	1	0	20	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.377	N	1.000	N	0.345	N	-1.66	D	-0.840	T	0.336	T	0.043	-0.976	0.298	1.98	-0.091	0.540	9.957	0.247	0.303235837578	.	0.00159744	0.0008	0	0.0006	0.0002	0	0.0002	0.0039	0.0058	0.0005757	89	154602	rs546035990	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0043	9.255e-05	0.0005	0	5.119e-05	0	0.0019	9.722e-05	0.0007	0.0049	0.0003	0.0003	0.0002	0.0003	0.0050	0.0002	0.0002	0.0035	0.0029	2.423e-05	0	0.0001	0	0.0002	0	0.0034	0.0002	0	0.0050	0.055	0.38407	T	0.134	0.34241	T	0.0	0.02946	B	0.0	0.01387	B	0.377362	0.04399	N	1.363540	0.999999	0.08975	N	1.1	0.28011	L	-1.66	0.82715	D	0.05	0.06369	N	0.081	0.05670	-0.8396	0.52673	T	0.336	0.70240	T	10	0.006508887	0.00147	T	0.303236	0.90951	D	0.247	0.55478	.	.	0.043077524339	0.03247	0.1932414902649941	0.19242	0.541579872358	0.51303	0.547271966934	0.45472	T	0.023791	0.18095	T	-0.500643	0.00567	T	-0.491512	0.23232	T	0.00867409649268681	0.00106	T	0.415458	0.10884	T	0.0373176	0.04761	0.06367278	0.12647	0.0373176	0.04761	0.06367278	0.12646	-4.061	0.24713	T	.	.	0.069	0.03372	B	.;.	.;.	1.601706	0.20476	14.77	0.7419711608897287	0.10606	0.31140	0.24262	N	AEFBI	0.126407	0.24334	N	-1.42038254293234	0.02460	0.1086549	-1.37888627048301	0.03478	0.1623141	0.180202301815477	0.17861	0.582742	0.33608	0	0.59043	0.45803	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	4.04	1.98	0.25351	1.229000	0.32202	4.336000	0.43042	-0.391000	0.05343	0.887000	0.31133	0.987000	0.30940	0.004000	0.06068	0.0836:0.0:0.7731:0.1433	9.957	0.40843	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	195.98	20	chr16	697179	.	G	A	195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=598;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.30;ReadPosRankSum=0.633;SOR=0.593	GT:AD:DP:GQ:PL	0/1:27,10:37:99:210,0,729	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,43,0:45:52:.:.:1469,52,0,1475,136,1559	1	6	3	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:2,43,0:45:52:1469,52,0,1475,136,1559	8	6	2	4
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:2,43,0:45:52:1469,52,0,1475,136,1559	8	6	2	4
chr16	1495588	1495588	T	C	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon3:c.T578C:p.V193A	You-Hoover-Fong syndrome, Autosomal recessive	.	431	1062	27	2	0	31	0.0143852	.	.	714745	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.26	T	0.049	B	0.015	B	0.376	N	0.999	N	1.39	L	-1.85	D	-0.678	T	0.357	T	0.125	1.590	11.27	4.23	0.866	1.466	10.075	0.112	.	0.0035	0.00499201	0.0063	0.0007	0.0027	0.0001	0.0003	0.0061	0.0057	0.0194	0.0056597	875	154602	rs141647559	0.0046	0.0046	0.0040	0.0052	0.0191	0.0045	0.0044	0.0184	0.0180	0.0005	0.0027	0.0169	2.532e-05	0.0011	0.0129	0.0036	0.0050	0.0191	0.0035	0.0035	0.0032	0.0039	0.0193	0.0033	0.0032	0.0161	0.0149	0.0006	0	0.0036	0.0170	0.0004	9.411e-05	0.0510	0.0041	0.0043	0.0193	0.039	0.42487	D	0.013	0.63109	D	0.049	0.22227	B	0.015	0.17295	B	0.375640	0.13462	N	0.708276	0.999224	0.21485	N	2.2	0.62015	M	-1.85	0.84267	D	-1.65	0.39503	N	0.068	0.04072	-0.6777	0.61479	T	0.357	0.71936	T	10	0.0053475797	0.00117	T	.	.	.	0.112	0.31546	.	.	0.513280433867	0.50970	0.23863046180916195	0.23777	0.144146784678	0.16276	0.305148303509	0.11173	T	0.073178	0.34635	T	-0.420889	0.01688	T	-0.362418	0.37772	T	0.015313074487058	0.00339	T	0.393061	0.09795	T	0.037355676	0.04774	0.05269088	0.08732	0.037355676	0.04773	0.05269088	0.08731	-2.494	0.05740	T	0.2086841170818422	0.27921	0.161	0.35622	B	.	.	1.256583	0.16537	12.60	0.84911635918903006	0.15571	0.53282	0.29334	D	AEFBCI	0.158386	0.28403	N	-0.709159317435632	0.15763	0.7972947	-0.709327222228478	0.16728	0.8863125	0.999998197357522	0.74766	0.706548	0.73137	0	0.606735	0.50208	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.33	4.23	0.49319	1.493000	0.35214	1.873000	0.29400	-0.109000	0.15193	0.004000	0.16614	0.026000	0.21063	0.021000	0.11733	0.0:0.0807:0.0:0.9192	10.075	0.41526	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	718.98	33	chr16	1495588	.	T	C	718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.780e-01;DP=807;ExcessHet=0.0000;FS=2.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-2.224e+00;SOR=0.396	GT:AD:DP:GQ:PL	0/1:21,28:49:99:733,0,564	20	0	1	0
chr16	1999881	1999881	G	0	exonic	ZNF598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	12579.4	40	chr16	1999881	.	G	GTCC,*	12579.4	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.849;DP=1110;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.7375;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=32.09;ReadPosRankSum=0.776;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,57,0:57:99:2558,171,0,2558,172,2558	15	3	2	0
chr16	3092567	3092567	C	G	exonic	ZSCAN10	.	nonsynonymous SNV	ZSCAN10:NM_032805:exon2:c.G371C:p.R124P,	.	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.105	B	0.216	B	0.244	N	1.000	N	2.24	M	3.55	T	-0.966	T	0.018	T	0.458	3.177	16.63	-2.07	-0.246	-1.160	2.085	0.091	0.0262382447281	.	.	0.0020	0.0012	0.0012	0	0	0.0021	0	0.0037	0.0003622	56	154602	rs755979872	0.0005	0.0005	0.0005	0.0005	0.0028	0.0005	0.0005	0.0018	0.0015	6.199e-05	0.0003	0.0048	0	6.69e-05	0.0028	0.0004	0.0014	0.0010	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	4.811e-05	0	0.0001	0.0066	0	0	0	0.0004	0.0005	0.0014	0.004	0.65419	D	0.032	0.53426	D	0.105	0.25993	B	0.216	0.37572	B	0.244380	0.15643	N	0.601756	0.99999	0.20745	N	.	.	.	3.55	0.04746	T	-2.53	0.54864	D	0.295	0.55193	-0.9656	0.38092	T	0.018	0.07659	T	10	0.0067323744	0.00153	T	0.026238	0.49161	D	0.091	0.26358	.	.	0.290590437066	0.28656	0.1560973747643535	0.15530	0.0526416560839	0.05800	0.371197462082	0.21003	T	0.026202	0.49903	T	-0.474542	0.00797	T	-0.520543	0.20239	T	0.0296954570758633	0.01942	T	0.272373	0.04609	T	0.36581966	0.58275	0.25875187	0.51612	0.36581966	0.58275	0.25875187	0.51611	-6.075	0.46902	T	.	.	0.318	0.54346	B	.;.;.	.;.;.	1.282829	0.16827	12.79	0.94148216214798297	0.24344	0.07185	0.13210	N	AEFDBHCI	0.075797	0.15232	N	-1.10583741460414	0.06539	0.3012648	-1.22257921167838	0.05548	0.2646872	0.917945285121995	0.26557	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	5.4	-2.07	0.06873	-0.533000	0.06245	.	.	-0.898000	0.02344	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.1889:0.4287:0.2325:0.1499	2.085	0.03422	774	0.48577	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	799.98	35	chr16	3092567	.	C	G	799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=858;ExcessHet=0.0000;FS=2.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=0.428;SOR=1.071	GT:AD:DP:GQ:PL	0/1:35,30:65:99:814,0,845	20	0	1	0
chr16	3781229	3781229	G	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon6:c.C1537A:p.L513I	Rubinstein-Taybi syndrome 1, Autosomal dominant	YES	1	1445	71	5	0	81	0.0272635	.	.	100926	Inborn_genetic_diseases|not_specified|Rubinstein-Taybi_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.604	P	0.369	B	0.000	D	1.000	D	1.28	L	-1.75	D	-0.226	T	0.400	T	0.54	2.237	13.44	5.49	2.578	5.707	19.361	0.382	.	0.0087	0.00638978	0.0100	0.0019	0.0047	0.0178	0.0021	0.0117	0.0188	0.0106	0.009366	1448	154602	rs61753381	0.0099	0.0100	0.0097	0.0102	0.0370	0.0098	0.0098	0.0329	0.0313	0.0019	0.0055	0.0583	0.0236	0.0019	0.0370	0.0087	0.0137	0.0113	0.0076	0.0076	0.0077	0.0076	0.0129	0.0073	0.0071	0.0104	0.0095	0.0017	0	0.0086	0.0617	0.0129	0.0012	0.0340	0.0084	0.0128	0.0114	0.052	0.39575	T	0.302	0.21144	T	0.604	0.39417	P	0.369	0.43514	B	0.000003	0.62929	D	0.000000	0.99998	0.54805	D	1.225	0.30651	L	-1.75	0.83578	D	-1.15	0.30140	N	0.233	0.26233	-0.2255	0.77006	T	0.400	0.75166	T	10	0.007070422	0.00161	T	.	.	.	0.382	0.69946	.	.	.	.	0.19137380748694238	0.19055	1.331011174	0.83652	0.601731181145	0.53148	T	0.473339	0.80524	T	-0.233667	0.16167	T	-0.0947976	0.63798	T	0.0174632381218672	0.00482	T	0.791621	0.43272	T	0.20917833	0.43177	0.17703225	0.40277	0.20866819	0.43111	0.17703225	0.40276	-4.376	0.29230	T	0.2561851620090893	0.34633	0.087	0.15206	B	.;.;.	.;.;.	4.105940	0.61261	24.3	0.93890401688013392	0.23914	0.96778	0.70889	D	AEFBI	0.617639	0.60374	D	0.271685724131068	0.54720	3.636797	0.373597985528741	0.59941	4.176549	0.999998223959344	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	5.816000	0.68900	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	19.361	0.94429	580	0.69689	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.119	9875.44	33	chr16	3781229	.	G	T	9875.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-6.200e-01;DP=1574;ExcessHet=1.1607;FS=1.168;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=0.238;SOR=0.839	GT:AD:DP:GQ:PL	0/1:92,88:180:99:2358,0,2456	16	0	5	0
chr16	10694693	10694693	C	T	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.G181A:p.V61I,	.	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.003	B	0.002	B	0.025	N	1.000	N	1.24	L	4.11	T	-0.945	T	0.005	T	0.111	0.140	4.751	-6.92	-1.348	-0.314	1.764	0.015	.	0.0070	0.00159744	0.0071	0.0011	0.0029	0	0.0089	0.0108	0.0056	0.0020	0.0067205	1039	154602	rs138126929	0.0090	0.0089	0.0091	0.0088	0.0105	0.0088	0.0088	0.0103	0.0102	0.0009	0.0032	0.0054	0	0.0084	0.0021	0.0105	0.0092	0.0015	0.0070	0.0070	0.0077	0.0062	0.0115	0.0066	0.0065	0.0108	0.0106	0.0017	0	0.0063	0.0066	0	0.0069	0	0.0115	0.0057	0.0010	0.308	0.14111	T	0.406	0.14725	T	0.003	0.11197	B	0.002	0.06944	B	0.024995	0.01622	N	2.299810	1	0.08975	N	0.46	0.12951	N	4.11	0.02916	T	-0.49	0.15578	N	0.073	0.04668	-0.9453	0.41764	T	0.005	0.01761	T	10	0.0038414598	0.00073	T	.	.	.	0.015	0.02232	.	.	0.117506650769	0.11410	0.20483342377689734	0.20400	0.0228577877693	0.02315	0.251101672649	0.03885	T	0.012405	0.10910	T	-0.696014	0.00038	T	-0.759579	0.03128	T	0.00117707586328804	0.00011	T	0.255274	0.03954	T	0.029504377	0.02456	0.023197655	0.00334	0.029504377	0.02455	0.023197655	0.00334	-3.69	0.19171	T	.	.	0.068	0.02861	B	.	.	-0.675178	0.01379	0.079	0.84443608144586346	0.15295	0.08805	0.14679	N	AEFBI	0.070489	0.13996	N	-1.38179900226416	0.02809	0.1245622	-1.49804783514101	0.02360	0.1084401	0.964251543770108	0.28747	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.99	-6.92	0.01485	-0.691000	0.05234	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.192:0.341:0.0944:0.3726	1.764	0.02816	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	0.02381	771.98	34	chr16	10694693	.	C	T	771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.798e+00;DP=816;ExcessHet=0.0000;FS=2.175;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.420;SOR=0.404	GT:AD:DP:GQ:PL	0/1:28,33:61:99:786,0,724	20	0	1	0
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/4:11,0,0,0,8:19:99:302,336,798,336,798,798,336,798,798,798,0,463,463,463,438	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/4:11,0,0,0,8:19:99:302,336,798,336,798,798,336,798,798,798,0,463,463,463,438	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/4:11,0,0,0,8:19:99:302,336,798,336,798,798,336,798,798,798,0,463,463,463,438	7	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,184,0:184:99:.:.:5645,551,0,5645,551,5645	2	11	4	0
chr16	11927620	11927620	G	A	exonic	NPIPB2	.	nonsynonymous SNV	NPIPB2:NM_001355514:exon9:c.C425T:p.A142V,	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	0.78	T	-0.625	T	0.211	T	0.049	0.090	4.487	.	0.088	0.089	.	0.080	.	.	0.00359425	0.0027	0	0.0011	0.0002	0	3.182e-05	0.0104	0.0171	0.002141	331	154602	rs370684740	0.0011	0.0011	0.0007	0.0016	0.0172	0.0011	0.0011	0.0165	0.0162	3.017e-05	0.0011	0	5.042e-05	0	0.0010	3.149e-05	0.0009	0.0172	0.0007	0.0007	0.0003	0.0011	0.0193	0.0006	0.0006	0.0161	0.0150	0.0001	0	0.0005	0	0	0	0	2.941e-05	0	0.0193	0.641	0.07048	T	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.60610	T	-0.09	0.08340	N	0.07	0.04307	-0.6254	0.63764	T	0.211	0.57120	T	3	0.0042072535	0.00084	T	.	.	.	0.080	0.23350	0.485	0.56780	0.266385636622	0.26244	0.01075833148273582	0.01036	0.342334712265	0.36172	.	.	.	.	.	.	-0.594055	0.00158	T	-0.612469	0.11784	T	0.00691194918441587	0.00078	T	0.754325	0.37774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.38853	B	.;.	.;.	0.174914	0.05632	2.085	0.74324092235382366	0.10653	0.00493	0.02333	N	AEFI	0.038759	0.05532	N	-0.683043081675619	0.16504	0.8415106	-0.914269984670066	0.11756	0.6009302	1.09666439460031E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.089000	0.14843	-0.653000	0.08018	0.093000	0.17603	0.227000	0.24611	0.000000	0.08366	0.234000	0.22842	.	.	.	758	0.50837	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3062.98	41	chr16	11927620	.	G	A	3062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.680;DP=2599;ExcessHet=0.0000;FS=5.055;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.81;MQRankSum=-1.430e-01;QD=12.30;ReadPosRankSum=-2.720e-01;SOR=0.469	GT:AD:DP:GQ:PL	0/1:131,118:249:99:3077,0,3429	20	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:104,54:179:99:154,0,1582	1	0	20	0
chr16	15363787	15363787	C	G	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.G925C:p.A309P,	.	.	449	1067	5	0	1	6	0.00233754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	0.295	N	0.84	T	-1.011	T	0.051	T	0.182	-1.976	0.007	.	.	-2.162	.	0.026	0.0520698013326	.	.	0.0016	0.0005	0.0005	0.0008	0.0013	0.0020	0	0.0019	0.000194	30	154602	rs367885695	0.0006	0.0021	0.0005	0.0006	0.0034	0.0005	0.0005	0.0028	0.0026	0.0005	0.0022	0.0003	0.0034	0.0009	0.0016	0.0003	0.0011	0.0014	0.0022	0.0054	0.0021	0.0023	0.0062	0.0019	0.0018	0.0047	0.0042	0.0009	0	0.0062	0.0014	0.0021	0.0036	0.0082	0.0022	0.0018	0.0025	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.545	0.00469	N	0.84	0.47477	T	3.31	0.00104	N	0.134	0.13055	-1.0108	0.26666	T	0.051	0.21844	T	4	0.0067711473	0.00154	T	0.05207	0.64923	D	0.026	0.05648	.	.	0.259504319725	0.25562	0.007338804602048364	0.00699	1.08290478472	0.77186	.	.	.	4.54E-4	0.00158	T	-0.245967	0.14596	T	-0.591091	0.13571	T	0.004419723209306	0.00047	T	0.648035	0.25918	T	0.14918122	0.34021	0.2748022	0.53412	0.14918122	0.34021	0.2748022	0.53411	2.464	0.00034	T	.	.	0.052	0.00207	B	.	.	-0.631220	0.01488	0.093	0.53721147967679017	0.04995	0.00024	0.00244	N	AEFDI	0.031713	0.03446	N	-0.824598943474776	0.12684	0.6198001	-0.920574022025108	0.11610	0.5924745	1.64775418838586E-6	0.01202	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.137000	0.15816	-0.722000	0.07700	0.156000	0.17708	0.022000	0.19841	0.000000	0.08366	0.025000	0.12405	.	.	.	716	0.55970	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1134.98	38	chr16	15363787	.	C	G	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.770e-01;DP=1465;ExcessHet=0.0000;FS=3.359;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=56.27;MQRankSum=-7.067e+00;QD=5.38;ReadPosRankSum=2.20;SOR=0.938	GT:AD:DP:GQ:PL	0/1:140,71:211:99:1149,0,3177	20	0	1	0
chr16	20954846	20954846	C	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon55:c.G10900T:p.V3634F	.	.	435	1060	26	1	0	28	0.0130354	.	.	2807702	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.601	P	0.127	B	0.002	N	0.964	D	2.405	M	2.52	T	-1.096	T	0.023	T	0.538	2.082	12.92	0.641	-0.158	0.459	6.173	0.205	.	0.0039	0.00259585	0.0060	0.0005	0.0019	0	0.0159	0.0076	0.0077	0.0052	0.0057373	887	154602	rs142557616	0.0055	0.0055	0.0054	0.0056	0.0053	0.0054	0.0054	0.0052	0.0051	0.0008	0.0026	0.0184	2.519e-05	0.0157	0.0052	0.0053	0.0064	0.0042	0.0051	0.0051	0.0051	0.0051	0.0062	0.0048	0.0047	0.0054	0.0053	0.0008	0	0.0027	0.0199	0.0002	0.0170	0.0034	0.0059	0.0066	0.0062	0.006	0.61437	D	.	.	.	0.601	0.39346	P	0.127	0.32738	B	0.001555	0.38671	N	0.227292	0.964236	0.38395	D	1.41	0.35535	L	2.52	0.14160	T	-2.01	0.46337	N	0.647	0.65844	-1.0959	0.04625	T	0.023	0.09923	T	10	0.0120690465	0.00261	T	.	.	.	0.205	0.49236	.	.	0.16115917748	0.15686	0.7348702395358523	0.73432	0.286386344799	0.31034	0.372315108776	0.21163	T	0.152177	0.49245	T	-0.485884	0.00685	T	-0.467129	0.25825	T	0.0234940818097939	0.01082	T	0.946405	0.79487	D	0.23149152	0.45922	0.14726968	0.34859	0.23149152	0.45922	0.14726968	0.34858	-9.742	0.72353	D	.	.	0.293	0.52459	B	.	.	1.539740	0.19747	14.42	0.97898622853992834	0.36724	0.53693	0.29433	D	AEFDBI	0.083671	0.16952	N	-0.299059134737281	0.29184	1.616218	-0.31042462816223	0.27761	1.54275	0.999943699605368	0.47345	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	0.641	0.16930	0.474000	0.21858	-0.947000	0.06827	-0.153000	0.12021	0.711000	0.28732	0.002000	0.18203	0.972000	0.54974	0.0:0.3409:0.2323:0.4268	6.173	0.19644	344	0.85734	Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4380.11	33	chr16	20954846	.	C	A	4380.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.98;DP=1050;ExcessHet=0.1072;FS=1.231;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-2.390e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:104,72:176:99:1956,0,2706	19	0	2	0
chr16	21201969	21201969	A	T	exonic	ZP2	.	nonsynonymous SNV	ZP2:NM_001376231:exon12:c.T1342A:p.F448I	.	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.001	B	0.004	B	0.385	N	1.000	N	0.345	N	-1.59	D	-0.897	T	0.263	T	0.132	0.949	8.872	3.52	0.670	1.246	3.379	0.112	0.0415267371933	0.0004	0.000199681	0.0011	0.0004	0.0028	0	0	0.0013	0.0011	0.0005	0.0011061	171	154602	rs149014575	0.0010	0.0010	0.0010	0.0009	0.0179	0.0009	0.0009	0.0151	0.0140	0.0009	0.0022	0.0021	0	0	0.0179	0.0009	0.0015	0.0007	0.0009	0.0009	0.0009	0.0009	0.0022	0.0008	0.0007	0.0016	0.0014	0.0001	0	0.0022	0.0026	0	0	0.0136	0.0010	0.0043	0.0008	.	.	.	0.282	0.21612	T	0.001	0.07471	B	0.003	0.08700	B	0.384861	0.13338	N	0.691855	1	0.08975	N	0.345	0.11182	N	-1.59	0.82076	D	.	.	.	0.323	0.36359	-0.8971	0.48283	T	0.263	0.63405	T	10	0.013563961	0.00287	T	0.041527	0.59975	D	.	.	.	.	0.754905977992	0.75268	0.3961577243949441	0.39530	0.0812347112437	0.09137	0.286515921354	0.08417	T	0.145007	0.48192	T	-0.44408	0.01224	T	-0.41793	0.31313	T	0.00475963973073476	0.00051	T	.	.	.	0.046002053	0.07627	0.053419605	0.08993	0.048677467	0.08522	0.06681967	0.13740	-2.842	0.08576	T	.	.	0.058	0.00705	B	.;.	.;.	2.601874	0.33775	19.44	0.9058450195403196	0.19838	0.47389	0.27972	N	AEFBI	0.144816	0.26787	N	-0.856960115877819	0.11880	0.5757823	-0.729390685177263	0.16231	0.8576202	0.00172863210762739	0.08818	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.55	3.52	0.39415	1.303000	0.33075	3.308000	0.37439	-0.227000	0.07798	0.969000	0.34210	1.000000	0.68203	0.824000	0.38829	0.1499:0.1367:0.5721:0.1413	3.379	0.06826	645	0.63593	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2594.98	34	chr16	21201969	.	A	T	2594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.090e-01;DP=903;ExcessHet=0.0000;FS=1.120;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.052;SOR=0.593	GT:AD:DP:GQ:PL	0/1:93,98:191:99:2609,0,2319	20	0	1	0
chr16	21404822	21404822	A	G	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	534	979	9	0	0	9	0.0045755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.782	P	0.588	P	.	.	1.000	N	.	.	2.23	T	-1.065	T	0.027	T	0.124	-2.992	0.001	.	0.064	0.061	.	0.034	0.000814305480675	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs768919248	0.0008	0.0008	0.0005	0.0010	0.0072	0.0007	0.0007	0.0068	0.0066	0.0002	0.0003	0.0050	0	4.968e-05	0.0050	0.0002	0.0011	0.0072	0.0003	0.0004	0.0004	0.0002	0.0012	0.0002	0.0002	0.0002	9.749e-05	0.0002	0	0.0004	0.0028	0	0	0	0.0002	0.0009	0.0012	0.26	0.16574	T	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-5.27	0.84175	D	0.371	0.41261	-1.0654	0.10456	T	0.027	0.11485	T	6	0.010564804	0.00235	T	8.14E-4	0.00649	T	0.034	0.08419	.	.	0.0675242888579	0.06100	0.0039076825103428045	0.00366	.	.	.	.	.	.	.	.	-0.553547	0.00278	T	-0.560232	0.16355	T	0.132421325003228	0.15604	T	0.514049	0.16524	T	.	.	.	.	.	.	.	.	-5.128	0.38201	T	.	.	.	.	.	.	.	0.412528	0.07833	4.529	0.11368674612924323	0.00169	0.00268	0.01460	N	AEFI	0.064389	0.12500	N	-1.10038978236753	0.06637	0.3060837	-1.28425517447828	0.04643	0.219474	1.09547697404592E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.187000	0.16806	-1.134000	0.06229	0.222000	0.18087	0.018000	0.19461	0.000000	0.08366	0.011000	0.09372	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.075	6865.72	36	chr16	21404822	.	A	G	6865.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.443e+00;DP=2372;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=35.89;MQRankSum=0.605;QD=8.60;ReadPosRankSum=-7.810e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,58:241:99:0|1:21404773_G_A:1885,0,7510:21404773	17	0	3	1
chr16	21404830	21404830	C	G	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	521	992	9	0	0	9	0.00451581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.013	B	0.013	B	.	.	1.000	N	.	.	2.25	T	-0.985	T	0.011	T	0.071	-2.748	0	.	-2.328	-2.332	.	0.113	0.00305511340832	.	.	1.21e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs764442120	0.0008	0.0008	0.0005	0.0011	0.0072	0.0008	0.0007	0.0068	0.0066	0.0002	0.0004	0.0051	0.0001	0	0.0053	0.0003	0.0012	0.0072	0.0003	0.0003	0.0004	0.0002	0.0011	0.0002	0.0002	0.0002	9.48e-05	0.0002	0	0.0001	0.0022	0	0	0	0.0002	0.0017	0.0011	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	3.63	0.00077	N	0.211	0.23506	-0.9853	0.33760	T	0.011	0.04274	T	6	0.014197737	0.00299	T	0.003055	0.06577	T	0.113	0.31778	.	.	0.043077524339	0.03247	0.003800006791874197	0.00355	.	.	.	.	.	.	.	.	-0.658688	0.00064	T	-0.72572	0.04523	T	0.00588467453405273	0.00065	T	0.548145	0.18826	T	.	.	.	.	.	.	.	.	3.676	0.00011	T	.	.	.	.	.	.	.	-0.709877	0.01297	0.069	0.3888448388659913	0.02650	0.00019	0.00214	N	AEFI	0.016501	0.00375	N	-2.01282428854043	0.00199	0.00850851	-2.13039005528964	0.00160	0.007031799	4.56923251083003E-5	0.03989	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-3.305000	0.00575	-4.306000	0.02226	-2.807000	0.00183	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	7237.77	36	chr16	21404830	.	C	G	7237.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=1.19;DP=2457;ExcessHet=0.3476;FS=0.000;InbreedingCoeff=0.0789;MLEAC=3;MLEAF=0.075;MQ=36.50;MQRankSum=0.439;QD=8.45;ReadPosRankSum=-3.100e-01;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,67:267:99:0|1:21404773_G_A:2211,0,8196:21404773	17	0	3	1
chr16	21404840	21404840	G	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	489	1024	9	0	0	9	0.0043753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.235	B	0.079	B	.	.	1.000	N	.	.	1.89	T	-0.991	T	0.032	T	0.071	-0.976	0.297	.	0.073	0.064	.	0.080	0.000773427527902	.	.	8.924e-06	0	0	0	0	1.608e-05	0	0	3.84e-05	1	26028	rs780924189	0.0008	0.0008	0.0005	0.0011	0.0072	0.0008	0.0007	0.0067	0.0065	0.0002	0.0003	0.0050	0.0003	0	0.0052	0.0003	0.0011	0.0072	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0003	0.0001	6.338e-05	0	7.944e-05	0.0016	0.0003	0	0	0.0002	0.0006	0.0010	0.226	0.18562	T	0.461	0.12562	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.0	0.26422	N	0.186	0.20262	-0.9910	0.32347	T	0.032	0.13592	T	6	0.023569375	0.00621	T	7.73E-4	0.00568	T	0.080	0.23350	.	.	0.043077524339	0.03247	0.0020208442233526284	0.00187	.	.	.	.	.	.	.	.	-0.607099	0.00132	T	-0.652096	0.08808	T	0.00632926929471588	0.00070	T	0.60384	0.22664	T	.	.	.	.	.	.	.	.	-4.157	0.26126	T	.	.	.	.	.	.	.	0.171734	0.05604	2.060	0.65293036323049336	0.07732	0.00386	0.01946	N	AEFI	0.043803	0.06970	N	-1.08744069757645	0.06873	0.3176827	-1.23639843889576	0.05335	0.2539725	1.09582168514057E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.196000	0.16979	-2.062000	0.04270	0.286000	0.18717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.075	8405.72	36	chr16	21404840	.	G	T	8405.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.942e+00;DP=2579;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=37.22;MQRankSum=0.316;QD=8.92;ReadPosRankSum=0.040;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,82:297:99:0|1:21404773_G_A:2796,0,8730:21404773	17	0	3	1
chr16	21404850	21404850	C	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	493	1019	1	0	9	10	0.000490436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.507e-05	0.0003	0	0	0	1.593e-05	0	0	3.84e-05	1	26028	rs771031390	0.0009	0.0010	0.0007	0.0012	0.0072	0.0009	0.0009	0.0067	0.0065	0.0009	0.0004	0.0051	0.0003	7.022e-05	0.0057	0.0004	0.0015	0.0072	0.0005	0.0008	0.0006	0.0003	0.0013	0.0004	0.0003	0.0005	0.0005	0.0008	0	0.0002	0.0016	0	0	0	0.0003	0.0012	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	8581.77	36	chr16	21404850	.	C	T	8581.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=0.725;DP=2655;ExcessHet=0.3476;FS=0.000;InbreedingCoeff=0.0789;MLEAC=3;MLEAF=0.075;MQ=37.58;MQRankSum=0.025;QD=8.75;ReadPosRankSum=-1.020e-01;SOR=0.740	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,87:312:99:0|1:21404773_G_A:2889,0,8844:21404773	17	0	3	1
chr16	22266836	22266836	C	T	exonic	EEF2K	.	nonsynonymous SNV	EEF2K:NM_013302:exon15:c.C1724T:p.S575L,	.	.	.	.	.	.	.	.	.	.	.	3248378	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.019	B	0.005	B	0.000	D	0.999	D	-0.405	N	3.6	T	-0.989	T	0.007	T	0.195	0.313	5.696	4.96	1.511	3.085	14.920	0.076	0.00790650595787	.	.	2.504e-05	0	0	0.0001	0	3.02e-05	0	0	3.84e-05	1	26028	rs777971267	6.843e-06	6.84e-06	4.085e-06	9.629e-06	2.52e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	2.52e-05	0	0	7.195e-06	0	1.16e-05	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	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.005	0.11217	B	0.000068	0.52346	D	0.137357	0.99858	0.45122	D	0.435	0.12660	N	3.6	0.04494	T	2.72	0.00186	N	0.38	0.42149	-0.9889	0.32878	T	0.007	0.02478	T	10	0.061726242	0.07783	T	0.007907	0.20981	T	0.076	0.22200	0.351	0.34922	0.313210971179	0.30940	0.38527139114687187	0.38442	0.175887073657	0.19803	0.460027933121	0.33314	T	0.068297	0.33421	T	-0.377169	0.03246	T	-0.598026	0.12977	T	0.123291723430157	0.14748	T	0.89621	0.63821	D	0.08091162	0.18565	0.08405893	0.19311	0.08091162	0.18565	0.08405893	0.19310	-3.359	0.14510	T	.	.	0.064	0.01668	B	.	.	1.779190	0.22621	15.69	0.2635569670154963	0.01258	0.83664	0.42766	D	AEFDBCI	0.253592	0.37306	N	-0.540853351849499	0.20772	1.097477	-0.303619817992574	0.27982	1.55666	0.691215006018793	0.22591	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.9	4.96	0.65153	3.123000	0.50147	0.389000	0.17868	0.599000	0.40250	0.991000	0.37257	0.027000	0.21108	0.860000	0.40782	0.0:0.9316:0.0:0.0684	14.920	0.70478	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	652.98	38	chr16	22266836	.	C	T	652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.714;DP=787;ExcessHet=0.0000;FS=0.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-1.969e+00;SOR=0.855	GT:AD:DP:GQ:PL	0/1:33,27:60:99:667,0,839	20	0	1	0
chr16	29383627	29383627	A	0	exonic	NPIPB11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2296.18	77	chr16	29383627	.	A	G,*	2296.18	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=2.03;DP=1184;ExcessHet=0.0208;FS=58.039;InbreedingCoeff=0.4285;MLEAC=11,1;MLEAF=0.275,0.025;MQ=35.46;MQRankSum=-8.430e-01;QD=5.36;ReadPosRankSum=-3.321e+00;SOR=3.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,15,0:74:99:.:.:288,0,1193,464,1238,1702	11	3	5	1
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:33,0,29:62:99:.:.:735,834,1807,0,973,886	7	0	12	0
chr16	29810109	29810117	GCGGCAGCG	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.397_405del:p.A141_A143del	.	.	326	1004	17	0	175	192	0.00839506	.	.	2807783	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0259	.	0.0042	0.0042	0.0036	0.0083	0.0010	0.0043	0.0013	0.0038	6.47e-05	10	154602	rs780065474	0.0028	0.0028	0.0028	0.0029	0.0230	0.0028	0.0027	0.0196	0.0183	0.0044	0.0043	0.0060	0.0041	0.0012	0.0230	0.0025	0.0043	0.0038	0.0032	0.0032	0.0034	0.0030	0.0086	0.0029	0.0029	0.0066	0.0059	0.0032	0	0.0061	0.0045	0.0086	0.0009	0.0188	0.0024	0.0030	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1597.03	35	chr16	29810108	.	AGCGGCAGCG	A,*	1597.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.417;DP=899;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=-2.509e+00;SOR=0.713	GT:AD:DP:GQ:PL	0/1:35,43,0:78:99:1611,0,1318,1717,1449,3166	19	0	1	0
chr16	29810108	29810117	AGCGGCAGCG	0	exonic	MAZ	.	.	.	.	.	326	1004	17	0	175	192	0.00839506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1597.03	35	chr16	29810108	.	AGCGGCAGCG	A,*	1597.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.417;DP=899;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=-2.509e+00;SOR=0.713	GT:AD:DP:GQ:PL	0/1:35,43,0:78:99:1611,0,1318,1717,1449,3166	19	0	1	0
chr16	29841997	29841997	C	T	exonic	MVP	.	nonsynonymous SNV	MVP:NM_001293204:exon9:c.C1519T:p.R507C	.	.	427	1086	8	1	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.912	D	0.000	D	1.000	D	2.965	M	1.37	T	-0.667	T	0.221	T	0.375	4.120	21.2	3.57	0.661	1.181	9.434	0.198	0.042898124295	0.0013	0.000199681	0.0016	0.0002	0.0012	0	0.0002	0.0024	0.0023	0.0007	0.0016041	248	154602	rs146411255	0.0019	0.0019	0.0018	0.0019	0.0042	0.0018	0.0018	0.0029	0.0024	0.0001	0.0013	0.0022	0	0.0002	0.0042	0.0022	0.0016	0.0008	0.0013	0.0013	0.0012	0.0013	0.0024	0.0011	0.0011	0.0018	0.0017	0.0002	0	0.0024	0.0012	0	0	0.0034	0.0020	0.0014	0.0002	0.008	0.58626	D	0.002	0.79402	D	1.0	0.90584	D	0.912	0.64797	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.305	0.65957	M	1.37	0.34253	T	-5.38	0.84954	D	0.282	0.31925	-0.6672	0.61955	T	0.221	0.58485	T	10	0.038394928	0.02255	T	0.042898	0.60702	D	0.198	0.48105	.	.	0.639520540457	0.63655	0.6823336604321246	0.68172	1.32234499502	0.83471	0.75591468811	0.75322	T	0.813182	0.95354	D	-0.403034	0.02211	T	-0.349372	0.39277	T	0.0663511371611991	0.08129	T	0.861114	0.55479	D	0.3963957	0.60482	0.30836472	0.56855	0.3963957	0.60483	0.30836472	0.56854	-9.175	0.68817	D	.	.	0.169	0.37140	B	.;.	.;.	4.729526	0.76160	26.5	0.99918697824175695	0.98586	0.77637	0.38196	D	AEFBI	0.391281	0.46978	N	0.528084256536723	0.68757	5.261333	0.444657366317427	0.64374	4.691152	0.595662617737563	0.21683	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.6	3.57	0.40014	1.209000	0.31963	2.607000	0.33555	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.7761:0.144:0.0799	9.434	0.37792	226	0.91233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	377.98	34	chr16	29841997	.	C	T	377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.863;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.79;ReadPosRankSum=0.063;SOR=0.653	GT:AD:DP:GQ:PL	0/1:27,16:43:99:392,0,696	20	0	1	0
chr16	30506822	30506822	C	T	exonic	ITGAL	.	nonsynonymous SNV	ITGAL:NM_001114380:exon19:c.C2222T:p.P741L	.	.	432	1089	1	0	0	1	0.000458926	.	.	3268025	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.002	B	0.783	N	0.989	N	0.345	N	0.82	T	-1.027	T	0.063	T	0.06	1.644	11.45	-5.8	-1.283	-4.060	8.530	0.027	0.0294837238701	0.0002	.	0.0002	0	0.0004	0	0	0.0003	0	0.0003	0.0001876	29	154602	rs143575422	0.0001	0.0001	0.0001	0.0002	0.0029	0.0001	0.0001	0.0019	0.0015	2.988e-05	0.0006	0.0009	2.52e-05	0	0.0029	9.713e-05	0.0003	0.0003	0.0002	0.0002	0.0001	0.0003	0.0013	0.0002	0.0001	0.0009	0.0007	4.813e-05	0	0.0013	0.0003	0	0	0.0034	8.821e-05	0.0009	0	0.446	0.09776	T	0.128	0.34959	T	0.001	0.07471	B	0.002	0.06944	B	0.783345	0.06668	N	1.128570	0.999974	0.24401	N	0.345	0.11182	N	0.82	0.48142	T	-0.96	0.31170	N	0.098	0.07949	-1.0267	0.21527	T	0.063	0.26101	T	10	0.03488916	0.01713	T	0.029484	0.51987	D	0.027	0.05988	.	.	0.255777322467	0.25185	0.5315906842036567	0.53084	0.314690589697	0.33750	0.2301132828	0.01976	T	0.118782	0.43984	T	-0.597237	0.00152	T	-0.748494	0.03545	T	0.0121207769557344	0.00193	T	0.141086	0.01136	T	0.033154227	0.03479	0.039867222	0.04180	0.033154227	0.03479	0.039867222	0.04180	-5.431	0.41803	T	.	.	0.076	0.06849	B	.;.	.;.	-1.490946	0.00300	0.005	0.89303296252757403	0.18682	0.01046	0.03903	N	AEFDBI	0.092210	0.18671	N	-1.88584618139175	0.00367	0.01577349	-1.92058531586033	0.00446	0.01971518	0.689294968565795	0.22570	0.631515	0.41029	0	0.697927	0.68747	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.2	-5.8	0.02155	-3.767000	0.00418	-7.209000	0.01206	-2.784000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.6441:0.2243:0.1316:0.0	8.530	0.32490	279	0.89001	Integrin alpha-2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1332.98	36	chr16	30506822	.	C	T	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.986;DP=918;ExcessHet=0.0000;FS=0.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=0.466;SOR=0.571	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1347,0,1122	20	0	1	0
chr16	30738427	30738427	T	C	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon34:c.T8387C:p.M2796T,	Floating-Harbor syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	1604416	SRCAP-related_disorder|not_provided|Floating-Harbor_syndrome|Developmental_delay,_hypotonia,_musculoskeletal_defects,_and_behavioral_abnormalities	.|MedGen:C3661900|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	0.883	N	1.000	N	0	N	-2.69	D	-0.682	T	0.400	T	0.091	-0.999	0.261	1.34	0.423	0.082	0.358	0.167	0.038169963288	0.0003	0.000199681	0.0003	0.0002	0	0	0	0.0002	0	0.0020	0.0002975	46	154602	rs143103128	0.0004	0.0004	0.0003	0.0004	0.0025	0.0003	0.0003	0.0023	0.0021	0	0.0001	0	0	9.773e-05	0.0004	0.0003	0.0001	0.0025	0.0002	0.0002	0.0001	0.0004	0.0027	0.0002	0.0002	0.0016	0.0013	2.407e-05	0	0	0	0	0	0	0.0003	0.0005	0.0027	0.123	0.27544	T	0.765	0.04555	T	0.0	0.02946	B	0.0	0.01387	B	0.883376	0.07250	N	1.055400	0.999999	0.08975	N	0.805	0.20218	L	-2.7	0.90509	D	-1.22	0.30964	N	0.125	0.31925	-0.6823	0.61266	T	0.400	0.75173	T	10	0.0046290755	0.00097	T	0.03817	0.58060	D	0.167	0.42761	.	.	0.110392049598	0.10638	0.15434696611579132	0.15355	0.203738914197	0.22792	0.417040884495	0.27430	T	0.041397	0.25843	T	-0.410182	0.01982	T	-0.368142	0.37106	T	0.016425758600235	0.00409	T	0.509849	0.16238	T	0.10127178	0.23920	0.08636835	0.20004	0.10127178	0.23920	0.08636835	0.20003	-0.819	0.00820	T	0.12193819156799265	0.11627	0.099	0.16670	B	.;.	.;.	0.642632	0.10110	6.857	0.68764329820924086	0.08759	0.08942	0.14793	N	AEFDBCI	0.042563	0.06619	N	-0.913336322842721	0.10529	0.5036011	-0.846724244978009	0.13366	0.6930047	0.939897076868758	0.27408	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.04	1.34	0.21018	0.210000	0.17249	0.741000	0.21161	0.609000	0.47794	0.001000	0.13787	0.138000	0.23065	0.564000	0.30507	0.1916:0.2312:0.174:0.4032	0.358	0.00336	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	800.98	38	chr16	30738427	.	T	C	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=771;ExcessHet=0.0000;FS=0.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=0.038;SOR=0.536	GT:AD:DP:GQ:PL	0/1:31,28:59:99:815,0,805	20	0	1	0
chr16	30769521	30769521	G	A	exonic	RNF40	.	nonsynonymous SNV	RNF40:NM_001207034:exon15:c.G2207A:p.R736Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.74	P	0.129	B	0.000	D	1.000	D	1.965	M	1.42	T	-0.970	T	0.100	T	0.324	2.989	15.97	6.06	2.880	5.183	19.401	0.113	0.0184350727642	.	.	9.221e-06	0	0	0	0	0	0	6.72e-05	6.5e-06	1	154602	rs564561453	3.422e-06	4.79e-06	4.086e-06	2.752e-06	0.0002	1e-06	7.3e-07	9.25e-06	4.56e-06	0	0	0	0	0	0.0002	8.998e-07	0	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.05	0.48080	T	0.134	0.42962	B	0.012	0.32841	B	0.000001	0.84330	D	0.054195	0.999979	0.58761	D	2.395	0.69210	M	1.39	0.33842	T	-2.19	0.57110	N	0.239	0.28849	-0.9698	0.37242	T	0.100	0.37085	T	10	0.22925094	0.39848	T	0.018435	0.40505	T	0.113	0.31778	0.277	0.23004	0.505559545342	0.50193	0.2531823414686087	0.25232	0.965590913833	0.73163	0.520609915257	0.41713	T	0.448433	0.79032	T	-0.16439	0.26088	T	-0.373282	0.36506	T	0.227643892168999	0.21839	T	0.916008	0.70203	D	0.21254015	0.43609	0.24261579	0.49686	0.21254015	0.43609	0.24261579	0.49685	-8.738	0.66138	D	.	.	0.138	0.30076	B	.;.;.;.	.;.;.;.	4.056944	0.60177	24.2	0.99832104377601494	0.91370	0.91416	0.53489	D	AEFDBCI	0.733179	0.67970	D	0.228311287782227	0.52576	3.430822	0.333413419474095	0.57512	3.917376	0.999999999993764	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.268000	0.65349	8.606000	0.77748	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	19.401	0.94618	10	0.99061	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1349.98	38	chr16	30769521	.	G	A	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.012e+00;DP=852;ExcessHet=0.0000;FS=3.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.09;ReadPosRankSum=-5.950e-01;SOR=1.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,50:79:99:0|1:30769507_A_G:1364,0,807:30769507	20	0	1	0
chr16	31135426	31135426	G	A	exonic	PRSS8	.	nonsynonymous SNV	PRSS8:NM_002773:exon1:c.C73T:p.R25W,	.	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.988	D	0.451	P	0.892	N	1.000	N	1.59	L	-3.13	D	-0.213	T	0.647	D	0.391	1.831	12.08	0.23	-0.005	1.030	4.248	0.358	0.209666637487	.	0.000199681	0.0004	0	0.0005	0.0013	0	0.0004	0	0.0003	0.0002005	31	154602	rs532468966	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	3.042e-05	0.0006	0.0009	0.0002	0	0.0023	0.0001	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	7.216e-05	0	0.0010	0.0003	0.0006	0	0.0034	7.351e-05	0.0009	0	0.014	0.53900	D	0.017	0.60337	D	0.988	0.62325	D	0.451	0.46123	P	0.892403	0.07304	N	1.072940	1	0.08975	N	1.15	0.29295	L	-3.13	0.92829	D	-1.18	0.33598	N	0.14	0.35727	-0.2135	0.77322	T	0.647	0.87692	D	10	0.047632188	0.04106	T	0.209667	0.87211	D	0.358	0.67872	.	.	0.849139436813	0.84769	0.4179421238124514	0.41710	0.292289378389	0.31640	0.220027267933	0.01311	T	0.284802	0.65759	T	-0.171839	0.24957	T	-0.130578	0.60922	T	0.0418994238438814	0.04037	T	0.523548	0.18382	T	0.058419842	0.11750	0.073325835	0.15921	0.058419842	0.11750	0.073325835	0.15920	-4.097	0.25246	T	.	.	0.085	0.44872	B	.;.;.;.	.;.;.;.	1.586757	0.20298	14.68	0.9447025868745057	0.24918	0.14100	0.18222	N	AEFDGBCI	0.331544	0.43124	N	-0.881481916425277	0.11284	0.543704	-1.03147842096084	0.09097	0.4507206	0.999904435987631	0.45458	0.441713	0.08003	0	0.547309	0.14657	0	0.52208	0.10781	0	0.613276	0.41899	0	.	.	4.42	0.23	0.14643	0.675000	0.24912	.	.	-1.675000	0.00794	0.120000	0.23175	0.520000	0.25304	0.011000	0.09372	0.2874:0.1687:0.5439:0.0	4.248	0.10130	59	0.97452	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	402.98	36	chr16	31135426	.	G	A	402.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-02;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.459;SOR=0.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,12:41:99:0|1:31135418_C_G:417,0,1149:31135418	20	0	1	0
chr16	31182662	31182662	A	G	exonic	FUS	.	nonsynonymous SNV	FUS:NM_001170634:exon3:c.A188G:p.N63S	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia;Tremor, hereditary essential, 4, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	0.0002	0.026	797312	Tremor,_hereditary_essential,_4|Amyotrophic_lateral_sclerosis_type_6|not_provided|Inborn_genetic_diseases|FUS-related_disorder	MONDO:MONDO:0013888,MedGen:C3539195,OMIM:614782|MONDO:MONDO:0011951,MedGen:C2931786,OMIM:608030,Orphanet:275872,Orphanet:803|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.9	T	0.001	B	0.006	B	0.022	N	0.998	N	-1.195	N	-1.16	T	-0.960	T	0.121	T	0.22	0.036	4.203	2.28	-0.087	0.535	9.978	0.200	0.0143948893286	0.0002	0.000199681	0.0002	0.0004	0.0004	0	0	0.0002	0	0.0001	0.0001617	25	154602	rs140883211	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	0.0003	0.0006	0.0009	2.519e-05	0	0.0033	9.802e-05	0.0004	0.0002	0.0003	0.0003	0.0003	0.0004	0.0010	0.0003	0.0002	0.0007	0.0005	0.0005	0	0.0010	0.0003	0	0	0.0068	0.0001	0.0019	0	0.887	0.09989	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.12133	B	0.021851	0.26750	N	0.378699	0.999314	0.22181	N	-0.34	0.03507	N	-1.16	0.78082	T	0.4	0.03463	N	0.077	0.07673	-0.9597	0.39236	T	0.121	0.42079	T	10	0.014752597	0.00315	T	0.014395	0.34491	T	0.200	0.48430	.	.	0.479326550349	0.47562	0.07794368324439402	0.07730	0.154217233389	0.17409	0.57460129261	0.49326	T	0.199672	0.55701	T	-0.350978	0.04666	T	-0.39476	0.33996	T	0.00585370891063379	0.00064	T	0.571443	0.20534	T	0.1725522	0.37953	0.09965009	0.23801	0.1725522	0.37952	0.09965009	0.23800	-2.147	0.03791	T	.	.	0.063	0.02091	B	.;.;.	.;.;.	1.501652	0.19302	14.19	0.393638375627333	0.02712	0.73215	0.35816	D	AEFDGBCI	0.280507	0.39431	N	-1.26488135487707	0.04106	0.1846999	-1.03254999708391	0.09074	0.4494641	0.999992218352416	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.72	2.28	0.27583	0.715000	0.25493	.	.	-0.070000	0.16343	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.7281:0.0:0.2719:0.0	9.978	0.40966	203	0.92088	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	876.98	50	chr16	31182662	.	A	G	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=874;ExcessHet=0.0000;FS=0.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.998;SOR=0.845	GT:AD:DP:GQ:PL	0/1:35,32:67:99:891,0,888	20	0	1	0
chr16	31215123	31215123	C	T	exonic	TRIM72	.	nonsynonymous SNV	TRIM72:NM_001008274:exon2:c.C385T:p.L129F,	.	.	413	1108	1	0	0	1	0.00045106	.	.	2347966	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.808	P	0.206	B	0.005	N	0.860	D	1.04	L	0.34	T	-0.988	T	0.086	T	0.205	2.229	13.41	2.67	1.222	1.816	7.559	0.061	0.0590316519004	.	.	0.0002	0	0.0005	0	0	0.0002	0	0	9.06e-05	14	154602	rs200603153	0.0001	0.0001	0.0001	0.0001	0.0034	0.0001	9.604e-05	0.0020	0.0015	0	0.0006	0.0009	3.154e-05	0	0.0034	8.381e-05	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0010	0.0001	0.0001	0.0007	0.0005	2.408e-05	0	0.0010	0.0003	0	0	0.0068	8.822e-05	0.0014	0	0.04	0.42199	D	0.159	0.31527	T	0.808	0.45299	P	0.206	0.37138	B	0.005120	0.33089	N	0.202901	0.859548	0.35363	D	0.695	0.17993	N	0.34	0.58176	T	0.45	0.03191	N	0.173	0.18512	-0.9878	0.33151	T	0.086	0.33382	T	10	0.07578817	0.11758	T	0.059032	0.67525	D	0.061	0.17616	0.407	0.44066	0.704087261418	0.70151	0.19296546365021153	0.19214	.	.	0.714399933815	0.69231	T	0.049976	0.28463	T	-0.341328	0.05297	T	-0.433235	0.29568	T	0.0392220785148804	0.03550	T	0.709329	0.31993	T	0.10593813	0.25049	0.10752439	0.25887	0.10593813	0.25049	0.10752439	0.25886	-5.624	0.43011	T	.	.	0.314	0.58611	B	.;.	.;.	3.756474	0.53871	23.4	0.98922636866237112	0.48583	0.85827	0.45004	D	AEFDBHCI	0.197113	0.32405	N	-0.270625150302651	0.30288	1.687391	-0.246118629197137	0.29905	1.679301	0.999999512614366	0.74766	0.652421	0.48094	0	0.541168	0.11318	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.93	2.67	0.30756	1.963000	0.40076	.	.	0.530000	0.24713	0.996000	0.39380	1.000000	0.68203	0.897000	0.43391	0.2239:0.6821:0.0:0.094	7.559	0.27005	184	0.92813	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	86.98	14	chr16	31215123	.	C	T	86.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=419;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=0.755;SOR=0.892	GT:AD:DP:GQ:PL	0/1:7,3:10:99:101,0,190	20	0	1	0
chr16	31362175	31362175	A	C	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon11:c.A1187C:p.E396A	.	.	430	1091	1	0	0	1	0.000458085	.	.	3268061	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.87	T	0.022	B	0.02	B	.	.	1.000	N	1.48	L	-0.51	T	-0.944	T	0.202	T	0.283	0.552	6.984	3.24	0.656	-0.113	7.381	0.089	0.0142272058546	0.0002	.	0.0002	0	0.0004	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs138866008	0.0001	0.0001	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	2.987e-05	0.0006	0.0009	2.519e-05	0	0.0031	9.713e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0010	0.0001	0.0001	0.0007	0.0005	2.415e-05	0	0.0010	0.0003	0	0	0.0068	0.0001	0.0009	0	0.194	0.20912	T	0.59	0.08419	T	0.022	0.18677	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.75	0.45442	L	-0.51	0.70597	T	-2.62	0.56301	D	0.296	0.34228	-0.9441	0.41960	T	0.202	0.55933	T	9	0.03818968	0.02220	T	0.014227	0.34206	T	0.089	0.25827	.	.	0.32714864917	0.32323	0.6247292304776239	0.62405	0.278717992486	0.30353	0.38786906004	0.23370	T	0.429168	0.77806	T	-0.339013	0.05456	T	-0.377573	0.36006	T	0.0287735648453236	0.01803	T	0.578742	0.20864	T	0.19829299	0.41726	0.1609399	0.37461	0.19829299	0.41726	0.1609399	0.37460	-8.635	0.65320	D	.	.	0.127	0.27403	B	.;.	.;.	2.115595	0.26923	17.29	0.89831799660409017	0.19141	0.05001	0.10777	N	AEFDBI	0.060119	0.11404	N	-0.844014493259859	0.12197	0.593108	-0.809759155566785	0.14259	0.7441585	0.476704370456732	0.20752	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.34	3.24	0.36257	-0.083000	0.11250	.	.	0.688000	0.82842	0.000000	0.06391	0.998000	0.33993	0.999000	0.91618	0.8957:0.0:0.1043:0.0	7.381	0.26031	292	0.88363	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	39	chr16	31362175	.	A	C	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.602;DP=858;ExcessHet=0.0000;FS=2.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=-2.780e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/1:73,54:127:99:1253,0,1830	20	0	1	0
chr16	51140268	51140268	C	T	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon2:c.G1663A:p.A555T	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	1878512	Townes_syndrome	MONDO:MONDO:0007142,MeSH:C536974,MedGen:C0265246,OMIM:PS107480,Orphanet:857	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.002	B	0.002	B	0.450	N	1.000	N	-0.55	N	3.3	T	-0.953	T	0.007	T	0.165	-3.753	0.001	-0.451	-2.161	-3.116	.	0.016	0.00151180906055	.	.	4.158e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs776664263	2.736e-05	2.736e-05	1.497e-05	3.988e-05	0.0003	2.062e-05	1.816e-05	0.0002	0.0002	2.987e-05	0	0	2.519e-05	0	0.0002	4.496e-06	6.623e-05	0.0003	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	.	.	2.412e-05	0	6.541e-05	0	0	0	0	0	0.0005	0.0002	0.509	0.07720	T	0.594	0.08106	T	0.002	0.09854	B	0.002	0.06944	B	0.450017	0.04809	N	1.453040	1	0.20152	N	-0.345	0.03330	N	3.3	0.06523	T	0.54	0.02764	N	0.08	0.05799	-0.9530	0.40450	T	0.007	0.02478	T	9	0.02269727	0.00574	T	0.001512	0.02343	T	0.016	0.02506	0.333	0.32005	0.226560886239	0.22246	0.24144743707690736	0.24058	0.195899076367	0.21946	0.312926381826	0.12349	T	0.150288	0.48969	T	-0.519112	0.00445	T	-0.709145	0.05339	T	0.0314774479906283	0.02221	T	0.135986	0.01074	T	0.035499837	0.04190	0.06668498	0.13694	0.035499837	0.04190	0.06668498	0.13693	-3.622	0.18935	T	0.14710724127993707	0.17023	0.065	0.02894	B	.;.;.	.;.;.	-0.730717	0.01252	0.064	0.64280046930351487	0.07450	0.09688	0.15388	N	AEFDBHCI	0.105221	0.21030	N	-2.11786547397235	0.00117	0.005007146	-2.1781322159679	0.00125	0.005507702	0.999587932804338	0.40607	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	0.225	-0.451	0.11604	-3.103000	0.00665	-2.887000	0.03261	-3.078000	0.00127	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	.	.	.	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1609.98	73	chr16	51140268	.	C	T	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=1233;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.665;SOR=0.821	GT:AD:DP:GQ:PL	0/1:76,61:137:99:1624,0,1829	20	0	1	0
chr16	51141747	51141747	-	GCT	exonic	SALL1	.	nonframeshift insertion	SALL1:NM_001127892:exon2:c.183_184insAGC:p.S62_G63insS	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	4	1373	56	3	86	148	0.0220798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	12825.78	138	chr16	51141744	.	CGCT	C,CGCTGCT	12825.78	.	AC=2,3;AF=0.048,0.071;AN=42;BaseQRankSum=0.846;DP=1595;ExcessHet=0.0409;FS=1.139;InbreedingCoeff=0.3189;MLEAC=2,3;MLEAF=0.048,0.071;MQ=59.99;MQRankSum=0.00;QD=22.58;ReadPosRankSum=0.232;SOR=0.595	GT:AD:DP:GQ:PL	1/2:0,72,65:137:99:5483,2601,2578,2950,0,2803	17	0	1	0
chr16	54285938	54285938	G	A	exonic	IRX3	.	nonsynonymous SNV	IRX3:NM_024336:exon1:c.C113T:p.A38V,	.	.	379	1128	15	0	0	15	0.00660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.487	P	0.136	B	0.001	D	0.955	N	1.385	L	0.52	T	-0.968	T	0.112	T	0.285	1.299	10.25	2.31	1.692	1.038	11.356	0.054	.	.	0.00159744	0.0053	0	0	0	.	0.0173	0	0.0014	0.000718	111	154602	rs538043692	0.0035	0.0033	0.0036	0.0034	0.0103	0.0034	0.0034	0.0079	0.0070	0.0005	0.0028	0.0228	3.495e-05	0.0005	0.0103	0.0034	0.0056	0.0022	0.0030	0.0030	0.0034	0.0026	0.0040	0.0027	0.0027	0.0036	0.0034	0.0008	0.0143	0.0020	0.0228	0.0004	0.0004	0.0070	0.0040	0.0048	0.0012	0.228	0.18434	T	0.188	0.28669	T	0.487	0.36886	P	0.136	0.33270	B	0.000982	0.40743	D	0.207947	0.955107	0.26346	N	0.455	0.12820	N	0.52	0.55266	T	-1.06	0.27669	N	0.282	0.31925	-0.9680	0.37612	T	0.112	0.40099	T	10	0.00583449	0.00130	T	.	.	.	0.054	0.15330	.	.	0.331619326243	0.32766	0.6108631896475533	0.61018	.	.	0.885798931122	0.94726	D	0.121567	0.44461	T	-0.465588	0.00906	T	-0.438811	0.28941	T	0.0109830344359004	0.00158	T	0.421058	0.11199	T	0.09115334	0.21350	0.14248964	0.33896	0.09115334	0.21350	0.14248964	0.33895	-6.027	0.46505	T	.	.	0.106	0.19760	B	.	.	3.287656	0.45070	22.1	0.98574671198471886	0.43154	0.59377	0.30898	D	AEFDGBHCI	0.264089	0.38150	N	-0.298266147438828	0.29216	1.618194	-0.296352957196222	0.28218	1.571624	0.999999967347532	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.35	2.31	0.27816	1.526000	0.35570	4.116000	0.41946	0.339000	0.19733	1.000000	0.71638	1.000000	0.68203	0.219000	0.22435	0.0:0.1847:0.8153:0.0	11.356	0.48857	942	0.12992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	757.98	34	chr16	54285938	.	G	A	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.894e+00;SOR=0.580	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,22:69:99:0|1:54285938_G_A:772,0,1857:54285938	20	0	1	0
chr16	54285939	54285939	C	A	exonic	IRX3	.	nonsynonymous SNV	IRX3:NM_024336:exon1:c.G112T:p.A38S,	.	.	379	1128	15	0	0	15	0.00660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.035	B	0.009	B	0.001	D	0.985	N	1.385	L	0.58	T	-1.043	T	0.107	T	0.131	-0.363	2.291	3.35	1.692	0.601	9.749	0.056	.	.	0.00159744	0.0052	0	0	0	.	0.0172	0	0.0014	0.0007115	110	154602	rs556340325	0.0035	0.0033	0.0036	0.0034	0.0103	0.0034	0.0034	0.0079	0.0070	0.0005	0.0029	0.0229	3.52e-05	0.0005	0.0103	0.0034	0.0056	0.0022	0.0030	0.0030	0.0034	0.0026	0.0040	0.0027	0.0027	0.0036	0.0034	0.0008	0.0143	0.0020	0.0228	0.0004	0.0004	0.0068	0.0040	0.0048	0.0012	0.767	0.03412	T	0.481	0.11864	T	0.035	0.20614	B	0.009	0.14300	B	0.000982	0.40743	D	0.207947	0.985342	0.24719	N	-0.235	0.03917	N	0.58	0.54149	T	0.19	0.04947	N	0.216	0.24135	-1.0429	0.16443	T	0.107	0.38882	T	10	0.0048045814	0.00102	T	.	.	.	0.056	0.15993	.	.	0.238705975628	0.23479	0.5068057829421115	0.50602	.	.	0.872319877148	0.92899	D	0.052986	0.29316	T	-0.558129	0.00260	T	-0.57174	0.15290	T	0.00371756705205037	0.00039	T	0.353365	0.07952	T	0.08708261	0.20264	0.10950251	0.26392	0.08708261	0.20264	0.10950251	0.26391	-4.414	0.29746	T	.	.	0.069	0.03093	B	.	.	1.849765	0.23498	16.04	0.87816389681015083	0.17503	0.48082	0.28127	N	AEFDGBHCI	0.115866	0.22764	N	-0.558354293742	0.20223	1.064476	-0.489617507896932	0.22438	1.218763	0.999999974898488	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.35	3.35	0.37468	1.061000	0.30152	1.077000	0.23857	0.303000	0.18983	0.995000	0.38783	0.761000	0.26624	0.223000	0.22544	0.2074:0.7926:0.0:0.0	9.749	0.39629	942	0.12992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	757.98	34	chr16	54285939	.	C	A	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-2.092e+00;SOR=0.580	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,22:69:99:0|1:54285938_G_A:772,0,1857:54285938	20	0	1	0
chr16	54932885	54932885	C	T	exonic	IRX5	.	nonsynonymous SNV	IRX5:NM_001252197:exon2:c.C637T:p.P213S	Hamamy syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2254254	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.659	N	0.998	N	-1.15	N	0.43	T	-1.023	T	0.046	T	0.076	-2.375	0.004	-0.532	0.068	0.464	7.623	0.049	0.00766576096058	.	.	8.394e-05	0	0	0	0	4.565e-05	0.0011	0.0004	7.12e-05	11	154602	rs760174440	3.428e-05	3.42e-05	2.864e-05	3.997e-05	0.0003	2.637e-05	2.38e-05	0.0002	0.0002	0	0	0	0	0	0.0003	1.981e-05	3.323e-05	0.0003	3.29e-05	3.284e-05	5.143e-05	1.347e-05	5.885e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0.0032	5.885e-05	0	0	0.922	0.03373	T	0.734	0.05090	T	0.0	0.02946	B	0.0	0.01387	B	0.659125	0.05969	N	1.190180	0.998064	0.44470	D	-1.445	0.00556	N	0.43	0.56772	T	0.75	0.04947	N	0.071	0.09772	-1.0229	0.22769	T	0.046	0.19599	T	10	0.015829444	0.00333	T	0.007666	0.20352	T	0.049	0.13647	0.264	0.20946	0.27132560031	0.26736	0.19846042313486417	0.19763	.	.	0.450714737177	0.32042	T	0.039963	0.25369	T	-0.492441	0.00630	T	-0.634615	0.10067	T	0.029127217000369	0.01856	T	0.626037	0.24205	T	0.03617929	0.04399	0.07244584	0.15630	0.04168336	0.06185	0.080777004	0.18300	-3.601	0.19658	T	0.06804701696780142	0.02442	0.069	0.03197	B	.;.	.;.	0.302262	0.06781	3.297	0.92525775302392343	0.21969	0.14590	0.18483	N	AEFDBHCI	0.048364	0.08245	N	-1.34529207354684	0.03174	0.1413514	-1.19383920259482	0.06012	0.28813	0.999999537928528	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.14	-0.532	0.11296	0.467000	0.21747	-0.327000	0.09919	-0.988000	0.01860	0.370000	0.25924	0.000000	0.08366	0.868000	0.41282	0.0:0.5555:0.27:0.1745	7.623	0.27363	880	0.29376	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	989.98	35	chr16	54932885	.	C	T	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-1.328e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:36,33:69:99:1004,0,1010	20	0	1	0
chr16	56652591	56652591	G	A	exonic	MT1B	.	nonsynonymous SNV	MT1B:NM_005947:exon2:c.G49A:p.G17S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.929	P	0.46	P	0.237	U	1.000	N	.	.	3.02	T	-0.980	T	0.019	T	0.243	0.211	5.138	0.343	-0.379	0.355	11.389	0.127	0.00473216435561	.	.	0.0001	9.61e-05	0.0003	0.0003	0.0002	2.997e-05	0	0.0004	0.0001164	18	154602	rs570563261	3.9e-05	3.967e-05	2.723e-05	5.088e-05	0.0003	3.047e-05	2.783e-05	0.0002	0.0002	2.988e-05	2.236e-05	3.828e-05	5.039e-05	0	0	8.994e-06	0.0002	0.0003	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0002	0.481	0.08212	T	0.624	0.07342	T	0.929	0.51690	P	0.46	0.46423	P	0.236726	0.15801	U	0.509493	1	0.08975	N	.	.	.	3.02	0.08986	T	-0.81	0.49519	N	0.179	0.19325	-0.9804	0.34909	T	0.019	0.08033	T	9	0.048725277	0.04363	T	0.004732	0.11784	T	0.127	0.34888	0.323	0.30387	0.0138822411134	0.00435	0.0874209642461806	0.08675	0.0698682289135	0.07824	0.217635393143	0.01177	T	0.132	0.58059	T	-0.512558	0.00485	T	-0.657875	0.08410	T	0.0300365707174652	0.01994	T	0.270873	0.04565	T	0.02821269	0.02124	0.03975075	0.04141	0.02821269	0.02124	0.03975075	0.04141	-8.818	0.66518	D	.	.	0.077	0.06250	B	.;.	.;.	-0.024985	0.04112	0.973	0.73438765979312348	0.10328	0.02574	0.07120	N	AEFGBI	0.042703	0.06661	N	-1.15617916381434	0.05678	0.2595122	-1.34498157917451	0.03865	0.1811775	0.0539261082800034	0.14954	0.625279	0.40028	0	0.627178	0.54094	0	0.563428	0.18855	0	0.59522	0.37078	0	.	.	2.61	0.343	0.15239	-0.022000	0.12424	-3.215000	0.02964	-2.652000	0.00222	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3434:0.6566:0.0	11.389	0.49041	884	0.28482	Metallothionein, vertebrate, metal binding site;Metallothionein, vertebrate, metal binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3772.98	49	chr16	56652591	.	G	A	3772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=1945;ExcessHet=0.0000;FS=1.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-2.280e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:143,147:290:99:3787,0,3499	20	0	1	0
chr16	57473465	57473465	G	A	exonic	DOK4	.	nonsynonymous SNV	DOK4:NM_001330556:exon7:c.C1010T:p.S337L	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.921	P	0.096	B	0.142	N	0.994	D	1.1	L	-2.93	D	0.077	D	0.556	D	0.581	4.085	21.0	5.4	2.531	6.529	16.342	0.418	0.0659301154868	.	.	0.0001	0	0.0003	0	0	7.503e-05	0	0.0004	9.06e-05	14	154602	rs531274848	9.85e-05	9.85e-05	8.439e-05	0.0001	0.0004	8.511e-05	7.981e-05	0.0003	0.0002	8.961e-05	6.708e-05	0	0	0	0	8.903e-05	9.934e-05	0.0004	4.596e-05	4.593e-05	6.425e-05	2.686e-05	0.0002	2.108e-05	1.526e-05	1.973e-05	1.125e-05	4.81e-05	0	0	0	0	0	0	5.882e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.921	0.51088	P	0.096	0.30313	B	0.142054	0.18256	N	0.532223	0.993737	0.42035	D	1.39	0.34934	L	-4.13	0.96745	D	-1.63	0.39119	N	0.378	0.51494	0.077	0.83760	D	0.556	0.83785	D	10	0.18586212	0.34025	T	0.06593	0.69726	D	0.418	0.72780	0.205	0.12076	0.99993699625	0.99993	0.4171417788315129	0.41630	0.925374099093	0.71617	0.679306507111	0.64168	T	0.08467	0.37330	T	0.0193523	0.54295	T	0.126281	0.78650	D	0.140711999012405	0.16337	T	0.918608	0.70760	D	0.15906635	0.35752	0.1506509	0.35520	0.15906635	0.35751	0.1506509	0.35520	-4.518	0.31123	T	.	.	0.172	0.37652	B	.;.;.	.;.;.	5.125529	0.85752	28.7	0.99871024342409986	0.94902	0.91778	0.54243	D	AEFDBHCI	0.810556	0.73377	D	0.302942265033966	0.56299	3.794471	0.411979064427184	0.62308	4.444321	0.999999999996919	0.74766	0.722319	0.85440	0	0.552637	0.17590	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.4	5.4	0.77957	7.380000	0.78983	11.780000	0.96086	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	16.342	0.82917	626	0.65439	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	933.98	35	chr16	57473465	.	G	A	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=771;ExcessHet=0.0000;FS=3.136;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-4.110e-01;SOR=1.088	GT:AD:DP:GQ:PL	0/1:38,36:74:99:948,0,928	20	0	1	0
chr16	57728574	57728574	G	A	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon15:c.G2186A:p.R729H	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.948	P	0.566	P	0.000	D	1.000	D	2.705	M	0.76	T	-0.493	T	0.239	T	0.822	3.590	18.28	5.15	2.399	4.280	17.182	0.202	0.0233084291245	7.7e-05	0.000599042	0.0004	0.0001	0.0003	0	0	6.01e-05	0	0.0025	0.0002717	42	154602	rs114443631	0.0001	0.0001	5.78e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	3.051e-05	2.33e-05	0	2.572e-05	0	0.0004	9.995e-06	6.726e-05	0.0021	7.223e-05	7.218e-05	6.425e-05	8.058e-05	0.0012	3.969e-05	3.126e-05	0.0005	0.0004	4.814e-05	0	0	0	0	0	0	4.41e-05	0	0.0012	0.107	0.29554	T	0.109	0.38891	T	0.948	0.53620	P	0.566	0.49756	P	0.000001	0.62929	D	0.057300	0.999987	0.54805	D	.	.	.	0.76	0.49919	T	-2.76	0.61722	D	0.406	0.49602	-0.4932	0.68894	T	0.239	0.60691	T	10	0.020771772	0.00485	T	0.023308	0.46264	T	0.202	0.48754	.	.	0.519024713989	0.51545	0.5750153691630128	0.57430	0.641479766235	0.57742	0.603856682777	0.53448	T	0.116803	0.43641	T	-0.221157	0.17837	T	-0.0960009	0.63706	T	0.126302118567707	0.15036	T	0.917708	0.70434	D	0.33171907	0.55612	0.23867407	0.49196	0.33171907	0.55612	0.23867407	0.49195	-8.929	0.67239	D	.	.	0.131	0.33755	B	.;.;.	.;.;.	4.522939	0.70936	25.6	0.99848524683693862	0.92838	0.77550	0.38142	D	AEFCI	0.704155	0.65996	D	0.553973635034548	0.70325	5.484902	0.552281294528637	0.71554	5.672905	0.999999807068126	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.15	5.15	0.70287	4.651000	0.61143	9.850000	0.81982	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.182	0.86737	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1510.98	36	chr16	57728574	.	G	A	1510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.720e-01;DP=817;ExcessHet=0.0000;FS=1.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=1.57;SOR=0.878	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1525,0,1068	20	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2294.46	37	chr16	57813723	.	T	C,*	2294.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=0.819;DP=938;ExcessHet=0.6776;FS=1.309;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=0.332;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,29:70:99:0|1:57813722_ATG_A:1094,1218,2936,0,1718,1631:57813722	17	0	2	0
chr16	67186328	67186328	G	A	exonic	EXOC3L1	.	stopgain	EXOC3L1:NM_178516:exon9:c.C1405T:p.R469X,	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	.	.	.	.	0.005	N	1.000	A	.	.	.	.	.	.	.	.	.	6.146	37	3.59	1.352	0.991	8.422	.	.	0.0029	0.00579073	0.0091	0.0016	0.0037	0	0.0061	0.0073	0.0043	0.0168	0.0031436	486	154602	rs141772271	0.0049	0.0049	0.0047	0.0052	0.0136	0.0048	0.0048	0.0129	0.0126	0.0007	0.0019	0.0093	0	0.0007	0.0039	0.0048	0.0037	0.0136	0.0034	0.0034	0.0034	0.0035	0.0143	0.0032	0.0031	0.0116	0.0106	0.0011	0.0285	0.0031	0.0092	0	0.0004	0	0.0043	0.0028	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	0.005496	0.32753	N	0.320112	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.103	0.08646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228092	0.76541	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.859664	0.98123	38	0.99374103421799631	0.61585	0.82148	0.41421	D	AEFGBI	0.267636	0.38430	N	0.582264693279167	0.72067	5.74792	0.421777609724625	0.62926	4.516355	0.999987585735584	0.51787	0.615465	0.37627	0	0.563428	0.19063	0	0.61531	0.40942	0	0.655142	0.61905	0	.	.	5.58	3.59	0.40253	0.593000	0.23700	4.481000	0.43534	0.676000	0.76740	0.772000	0.29380	1.000000	0.68203	0.993000	0.69303	0.0802:0.0:0.7685:0.1513	8.422	0.31869	43	0.97828	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1164.98	34	chr16	67186328	.	G	A	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.715;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-5.570e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1179,0,1113	20	0	1	0
chr16	69119687	69119687	-	AGGGCCTGGGCCCAGGCCACTTGGTCTTGGGTTGGGCCC	exonic	DERPC	.	nonframeshift insertion	DERPC:NM_001366603:exon2:c.741_742insGGGCCCAACCCAAGACCAAGTGGCCTGGGCCCAGGCCCT:p.P247_N248insGPNPRPSGLGPGP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs774547051	1.337e-05	1.431e-05	0	2.484e-05	0.0001	5.56e-06	3.57e-06	5.442e-05	3.809e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	507.94	34	chr16	69119687	.	T	TAGGGCCTGGGCCCAGGCCACTTGGTCTTGGGTTGGGCCC	507.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=789;ExcessHet=0.0000;FS=1.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=-3.243e+00;SOR=0.895	GT:AD:DP:GQ:PL	0/1:33,15:48:99:522,0,1245	20	0	1	0
chr16	69119798	69119798	G	C	exonic	DERPC	.	nonsynonymous SNV	DERPC:NM_001366603:exon2:c.C631G:p.P211A	.	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.003	B	0.042	N	1.000	N	.	.	1.92	T	-1.052	T	0.028	T	0.092	0.982	9.008	-0.357	0.248	1.343	2.114	0.028	.	.	0.00419329	0.0115	0.0018	0.0053	0	0.125	0.0056	0.0076	0.0153	0.0015394	238	154602	rs185866245	0.0043	0.0038	0.0035	0.0050	0.0134	0.0042	0.0041	0.0127	0.0124	0.0005	0.0021	0.0028	0	0.0063	0.0043	0.0034	0.0034	0.0134	0.0027	0.0027	0.0025	0.0029	0.0124	0.0025	0.0024	0.0099	0.0090	0.0004	0	0.0038	0.0032	0	0.0041	0.0035	0.0032	0.0019	0.0124	0.0	0.91255	D	0.373	0.16328	T	0.001	0.07471	B	0.003	0.08700	B	0.041520	0.23942	N	0.299706	0.999993	0.58761	D	.	.	.	1.92	0.23082	T	0.14	0.05405	N	0.246	0.27792	-1.0519	0.13872	T	0.028	0.12147	T	9	0.0026232302	0.00040	T	.	.	.	0.028	0.06331	.	.	0.247872288689	0.24386	0.0850487383074622	0.08438	.	.	0.483097851276	0.36483	T	0.015917	0.13255	T	-0.581976	0.00187	T	-0.597068	0.13057	T	0.0214830953862535	0.00852	T	0.445855	0.12478	T	0.050773207	0.09225	0.05342995	0.08997	0.050773207	0.09224	0.05342995	0.08996	-5.831	0.44844	T	.	.	0.079	0.07177	B	.	.	2.220679	0.28336	17.76	0.90590718042576435	0.19844	0.32714	0.24653	N	AEFDBCI	0.080978	0.16379	N	-0.463881499344363	0.23272	1.248528	-0.392717760883038	0.25212	1.385206	0.0372603808181577	0.14287	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-0.357	0.11953	1.121000	0.30897	2.798000	0.34835	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.974000	0.55675	0.1664:0.2872:0.3989:0.1476	2.114	0.03483	202	0.92131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	6341.9	34	chr16	69119798	.	G	C	6341.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.610e-01;DP=981;ExcessHet=0.0082;FS=0.920;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=59.96;MQRankSum=0.00;QD=19.45;ReadPosRankSum=0.900;SOR=0.637	GT:AD:DP:GQ:PL	0/1:54,71:125:99:1745,0,1349	18	1	2	0
chr16	70156667	70156667	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.C2128T:p.R710C	.	.	411	1064	47	0	0	47	0.0216092	.	.	3214454	PDPR-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.996	D	0.000	D	1.000	D	0.49	N	-1.17	T	-0.206	T	0.364	T	0.958	1.928	12.41	6.03	2.868	4.681	14.406	0.593	.	0.0056	0.00419329	0.0061	0.0051	0.0043	0.0002	0.0018	0.0076	0.0156	0.0065	0.0056209	869	154602	rs141395281	0.0049	0.0062	0.0048	0.0050	0.0207	0.0048	0.0048	0.0177	0.0165	0.0054	0.0050	0.0219	7.557e-05	0.0009	0.0207	0.0046	0.0071	0.0057	0.0054	0.0063	0.0056	0.0052	0.0062	0.0051	0.0050	0.0051	0.0049	0.0048	0	0.0062	0.0196	0.0006	0.0006	0.0377	0.0056	0.0171	0.0058	0.0	0.91255	D	0.0	0.92824	D	0.344	0.33532	B	0.108	0.31289	B	0.000002	0.62929	D	0.060606	1	0.81001	D	1.425	0.35738	L	-1.17	0.78199	T	-4.37	0.81835	D	0.76	0.91162	-0.2061	0.77514	T	0.364	0.72506	T	10	0.008982539	0.00203	T	.	.	.	0.593	0.83802	.	.	0.843224510663	0.84172	0.8173182629007808	0.81688	0.371021257662	0.38606	0.767588675022	0.77064	T	0.34377	0.86264	T	0.037008	0.56652	T	0.282856	0.87274	D	0.0339612259325702	0.02631	T	0.961904	0.90356	D	0.41766918	0.61936	0.32478216	0.58399	0.43338367	0.62974	0.32478216	0.58399	-7.755	0.59389	D	.	.	0.195	0.44358	B	.;.;.;.;.	.;.;.;.;.	4.635750	0.73751	26.0	0.98498878817887714	0.42192	0.95003	0.63085	D	AEFDGBCI	0.788991	0.71831	D	0.280073968342618	0.55139	3.678235	0.379189621332959	0.60284	4.214227	0.999999999993714	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.756000	0.61902	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1473:0.8526:0.0:0.0	14.406	0.66651	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel 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	0.02381	2072.98	43	chr16	70156667	.	C	T	2072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=1367;ExcessHet=0.0000;FS=0.598;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.06;ReadPosRankSum=1.44;SOR=0.707	GT:AD:DP:GQ:PL	0/1:303,107:410:99:2087,0,7964	20	0	1	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.008	N	0.979	N	-2.25	N	1.83	T	-0.944	T	0.011	T	0.018	-1.985	0.007	2.3	0.074	0.490	7.931	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	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	0.125	329.21	41	chr16	70941764	.	T	C	329.21	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.36;DP=1795;ExcessHet=1.1607;FS=31.919;InbreedingCoeff=-0.1475;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-5.512e+00;QD=0.58;ReadPosRankSum=-2.458e+00;SOR=4.591	GT:AD:DP:GQ:PL	0/1:100,11:111:10:10,0,2597	15	0	5	1
chr16	71129710	71129710	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001198542:exon9:c.C1238T:p.A413V	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	3	1514	5	0	0	5	0.00164853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.411	B	0.145	B	0.585	U	0.996	N	0	N	5.59	T	-0.974	T	0.019	T	0.284	1.071	9.372	3.86	0.855	2.240	11.342	0.079	.	0.0019	0.00539137	0.0036	0.0004	0.0005	0	0.0002	0.0015	0.0067	0.0195	0.0031371	485	154602	rs150136432	0.0032	0.0032	0.0029	0.0035	0.0165	0.0031	0.0031	0.0158	0.0155	0.0003	0.0007	0	2.519e-05	3.744e-05	0.0005	0.0027	0.0030	0.0165	0.0019	0.0019	0.0017	0.0021	0.0182	0.0017	0.0017	0.0152	0.0140	0.0003	0	0.0021	0	0	0	0	0.0022	0.0028	0.0182	0.027	0.46513	D	0.042	0.50226	D	0.301	0.32572	B	0.094	0.30180	B	0.585394	0.11102	U	0.657383	0.996271	0.23064	N	0	0.06538	N	5.59	0.05710	T	-0.97	0.30964	N	0.146	0.14763	-0.9735	0.36453	T	0.019	0.08173	T	10	0.0040670037	0.00079	T	.	.	.	0.079	0.23065	.	.	0.107399877778	0.10242	0.13563045021395093	0.13487	.	.	0.242247447371	0.02996	T	0.066452	0.32950	T	-0.561535	0.00248	T	-0.565103	0.15900	T	0.0145680748363632	0.00299	T	.	.	.	0.05675926	0.11210	0.08637753	0.20007	0.052683085	0.09860	0.090011604	0.21082	-5.151	0.43372	T	.	.	0.106	0.19518	B	.;.;.;.;.	.;.;.;.;.	2.145095	0.27317	17.42	0.96290929746779819	0.29315	0.53425	0.29369	D	AEFDBCI	0.228785	0.35241	N	-0.643677636558329	0.17644	0.9096978	-0.506401638956703	0.21979	1.191582	0.999998842188521	0.74766	0.653281	0.48532	0	0.563428	0.19063	0	0.675528	0.61593	0	0.663205	0.64265	0	.	.	4.97	3.86	0.43689	1.710000	0.37539	0.784000	0.21507	-0.757000	0.03535	0.847000	0.30396	0.039000	0.21534	0.274000	0.23868	0.0:0.0:0.1553:0.8447	11.342	0.48778	675	0.60470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1249.98	37	chr16	71129710	.	G	A	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.093;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.48;MQRankSum=1.07;QD=12.50;ReadPosRankSum=1.42;SOR=0.758	GT:AD:DP:GQ:PL	0/1:45,55:100:99:1264,0,951	20	0	1	0
chr16	71851530	71851530	C	A	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.C1790A:p.P597H,	.	.	427	1075	19	1	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.01	B	0.004	B	.	.	0.612	D	0.895	L	1.24	T	-1.039	T	0.047	T	0.201	1.050	9.287	5.61	2.821	3.627	9.704	0.058	.	0.0039	0.0141773	0.0300	0.0010	0.0073	0	0.0588	0.0057	0.0160	0.0672	0.0050517	781	154602	rs61747556	0.0092	0.0088	0.0076	0.0108	0.0644	0.0090	0.0090	0.0629	0.0623	0.0007	0.0014	0.0009	0.0001	0.0134	0.0033	0.0060	0.0086	0.0644	0.0061	0.0062	0.0047	0.0076	0.0668	0.0058	0.0057	0.0608	0.0584	0.0007	0	0.0019	0.0009	0.0006	0.0157	0	0.0055	0.0033	0.0668	0.254	0.16903	T	0.266	0.22627	T	0.01	0.15535	B	0.004	0.10090	B	.	.	.	.	0.611811	0.32628	D	1.525	0.38595	L	1.24	0.36691	T	-0.49	0.15578	N	0.083	0.05929	-1.0389	0.17648	T	0.047	0.20275	T	9	0.0016744435	0.00020	T	.	.	.	0.058	0.16647	.	.	.	.	0.29031691364236617	0.28944	.	.	0.48959133029	0.37381	T	0.006306	0.05746	T	-0.551346	0.00286	T	-0.516067	0.20693	T	0.00751254747758507	0.00087	T	0.649135	0.25986	T	0.09877813	0.23303	0.1231305	0.29693	0.09877813	0.23303	0.1231305	0.29692	-5.547	0.42306	T	.	.	0.085	0.09965	B	.	.	3.196993	0.43459	21.7	0.9358753258626582	0.23437	0.97145	0.72954	D	AEFDBCI	0.394636	0.47181	N	-0.00743805226345556	0.41518	2.484805	0.201119503355324	0.49911	3.189	0.999975825733809	0.50053	0.631515	0.41029	0	0.697927	0.68747	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	2.144000	0.41821	5.957000	0.51754	0.599000	0.40250	0.983000	0.35670	1.000000	0.68203	0.999000	0.91618	0.0:0.7751:0.1446:0.0803	9.704	0.39373	84	0.96491	.	.	.	.	.	rs61747556	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2486.98	38	chr16	71851530	.	C	A	2486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.058e+00;DP=922;ExcessHet=0.0000;FS=0.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.74;ReadPosRankSum=0.899;SOR=0.763	GT:AD:DP:GQ:PL	0/1:81,100:181:99:2501,0,2204	20	0	1	0
chr16	83990523	83990523	G	T	exonic	NECAB2	.	nonsynonymous SNV	NECAB2:NM_001329749:exon5:c.G240T:p.Q80H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.936	D	0.000	D	1.000	D	2.71	M	1.52	T	-0.687	T	0.195	T	0.864	3.613	18.39	5.14	2.388	4.991	11.121	0.397	0.0832055952155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420451616	1.368e-06	2.052e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	0.998	0.73220	D	0.936	0.67150	D	0.000004	0.62929	D	0.063428	0.99973	0.51042	D	3.02	0.86243	M	1.52	0.36691	T	-4.44	0.79998	D	0.932	0.93723	-0.6867	0.61062	T	0.195	0.54869	T	10	0.8613769	0.85359	D	0.083206	0.74066	D	0.397	0.71163	0.809	0.92581	0.220303561663	0.21668	0.6954736510121862	0.69488	.	.	0.719699144363	0.70003	T	0.473209	0.80516	T	0.157238	0.69944	D	0.0849393	0.75908	D	0.993318676948547	0.84065	D	0.921708	0.81464	D	0.7128583	0.78765	0.5947352	0.76474	0.7128583	0.78766	0.5947352	0.76475	-8.471	0.64237	D	.	.	0.833	0.82857	P	.;.;.	.;.;.	3.805460	0.54855	23.5	0.9972068374597669	0.82054	0.91895	0.54496	D	AEFBCI	0.798229	0.72483	D	0.704825141613731	0.79949	7.187138	0.637292015448706	0.77667	6.723751	0.997398647392565	0.35572	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	4.321000	0.58999	5.836000	0.50206	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0849:0.0:0.9151:0.0	11.121	0.47513	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1540.98	36	chr16	83990523	.	G	T	1540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.070e+00;DP=838;ExcessHet=0.0000;FS=2.465;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-7.790e-01;SOR=0.497	GT:AD:DP:GQ:PL	0/1:46,63:109:99:1555,0,1195	20	0	1	0
chr16	84170046	84170046	G	C	exonic	DNAAF1	.	nonsynonymous SNV	DNAAF1:NM_001318756:exon4:c.G510C:p.E170D	Ciliary dyskinesia, primary, 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.99	D	0.717	P	.	.	1.000	N	0.69	N	1.78	T	-1.027	T	0.068	T	0.116	1.049	9.284	-4.71	-0.734	-0.502	5.872	0.090	0.00169098102216	.	.	.	.	.	.	.	.	.	.	.	.	.	rs374207885	1.368e-06	1.368e-06	0	2.751e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.085	0.41074	T	0.123	0.26785	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.78	0.25678	T	-0.58	0.17417	N	0.093	0.07262	-1.0273	0.21331	T	0.068	0.27980	T	9	0.051308513	0.04993	T	0.001691	0.02805	T	0.090	0.26093	0.124	0.03018	0.128392430309	0.12331	0.08862072431069294	0.08795	0.0691553235387	0.07740	0.284771025181	0.08167	T	0.00646	0.05891	T	-0.387232	0.02803	T	-0.697154	0.05983	T	0.165836989879608	0.18293	T	0.480052	0.14488	T	0.039921127	0.05602	0.048689857	0.07286	0.039921127	0.05602	0.048689857	0.07286	-7.287	0.56103	T	.	.	0.102	0.18122	B	.	.	0.490009	0.08593	5.360	0.93912826612701183	0.23949	0.03106	0.08040	N	AEFBHI	0.059485	0.11238	N	-1.00580122513362	0.08482	0.3978975	-1.18265214631311	0.06199	0.2976467	0.948596240891713	0.27807	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.9	-4.71	0.03042	-0.479000	0.06647	-2.556000	0.03613	-1.328000	0.01220	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3408:0.4712:0.188:0.0	5.872	0.18055	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	576.98	36	chr16	84170046	.	G	C	576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.690e-01;DP=1371;ExcessHet=0.0000;FS=6.905;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.13;ReadPosRankSum=-1.629e+00;SOR=1.578	GT:AD:DP:GQ:PL	0/1:48,23:71:99:591,0,1380	20	0	1	0
chr16	84191362	84191367	GCCCGC	-	exonic	ADAD2	.	nonframeshift deletion	ADAD2:NM_001145400:exon1:c.132_137del:p.P49_A50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0008	0	0	0.0002	0	0.0017	0.0003363	52	154602	rs745979380	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0011	0	0.0007	0	5.229e-05	0	0.0017	0.0001	0.0004	0.0014	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0006	0	0.0002	0	0	0.0003	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9312.79	48	chr16	84191361	.	GGCCCGC	AGCCCGC,G	9312.79	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.595;DP=904;ExcessHet=0.2231;FS=3.336;InbreedingCoeff=0.2202;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-4.400e-02;SOR=0.756	GT:AD:DP:GQ:PL	1/2:0,19,20:39:99:1465,810,954,685,0,694	11	2	7	0
chr16	86554707	86554707	T	G	exonic	MTHFSD	.	startloss	MTHFSD:NM_001159377:exon2:c.A61C:p.M21L	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.023	B	0.039	B	0.000	N	1.000	N	-0.345	N	1.47	T	-1.019	T	0.029	T	0.293	0.390	6.119	3.08	0.325	3.182	7.562	0.066	0.00558282854325	.	.	1.656e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs754742924	1.847e-05	1.847e-05	1.361e-05	2.338e-05	0.0002	1.265e-05	1.084e-05	1.627e-05	1.382e-05	0	0	0	0	0	0.0002	2.338e-05	0	0	6.569e-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	0.468	0.11406	T	0.58	0.11407	T	0.023	0.18885	B	0.039	0.23607	B	0.000024	0.55875	N	0.188947	1	0.81001	D	0.035	0.08059	N	1.47	0.42122	T	-1.08	0.35194	N	0.386	0.45426	-1.0187	0.24139	T	0.029	0.12541	T	10	0.091973245	0.30862	T	0.005583	0.14409	T	0.066	0.19193	0.632	0.76810	0.251116650651	0.24721	0.6131088873216227	0.61242	0.0194434751322	0.01902	0.471052289009	0.34825	T	0.008063	0.24054	T	-0.26355	0.12487	T	-0.459982	0.26601	T	0.171824349554577	0.18703	T	0.842016	0.65058	T	0.21194153	0.43532	0.17945966	0.40681	0.21194153	0.43532	0.17945966	0.40681	-6.461	0.50333	T	.	.	0.151	0.40952	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.137165	0.27209	17.39	0.68600654154254292	0.08709	0.84924	0.44020	D	AEFDGBCI	0.332600	0.43196	N	-0.571626600856352	0.19811	1.039752	-0.374843156973269	0.25750	1.417964	0.999999980332781	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.4	3.08	0.34576	3.077000	0.49787	2.291000	0.31959	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1237:0.0:0.3118:0.5645	7.562	0.27023	976	0.04745	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1353.98	33	chr16	86554707	.	T	G	1353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=812;ExcessHet=0.0000;FS=2.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=0.00;SOR=0.907	GT:AD:DP:GQ:PL	0/1:69,61:130:99:1368,0,1470	20	0	1	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:49,32,2,0,0,0:83:99:1232,0,1928,1138,1850,2931,1308,1983,3017,3213,1308,1983,3017,3213,3213,1308,1983,3017,3213,3213,3213	4	4	6	0
chr16	87604296	87604296	-	CTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTG:p.A157_V158insA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:49,32,2,0,0,0:83:99:1232,0,1928,1138,1850,2931,1308,1983,3017,3213,1308,1983,3017,3213,3213,1308,1983,3017,3213,3213,3213	4	4	6	0
chr16	87604296	87604296	-	CTGCTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTGCTG:p.A157_V158insAAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:49,32,2,0,0,0:83:99:1232,0,1928,1138,1850,2931,1308,1983,3017,3213,1308,1983,3017,3213,3213,1308,1983,3017,3213,3213,3213	4	4	6	0
chr16	87604294	87604296	CTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.437_439del:p.A157del,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	0/1:49,32,2,0,0,0:83:99:1232,0,1928,1138,1850,2931,1308,1983,3017,3213,1308,1983,3017,3213,3213,1308,1983,3017,3213,3213,3213	4	4	6	0
chr16	88655724	88655724	C	T	exonic	MVD	.	nonsynonymous SNV	MVD:NM_002461:exon6:c.G610A:p.A204T,	Porokeratosis 7, multiple types, Autosomal dominant	.	424	1095	2	1	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.003	B	0.0	B	0.000	N	0.992	D	2.15	M	0.87	T	-1.017	T	0.106	T	0.17	1.093	9.462	1.2	0.061	0.645	9.191	0.141	0.0915916544069	7.8e-05	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0001	9.06e-05	14	154602	rs112697935	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.598e-05	9.092e-05	8.462e-05	3.146e-05	2.682e-05	0	0	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	7.706e-05	0.0001	7.213e-05	6.504e-05	5.317e-05	1.913e-05	1.03e-05	7.213e-05	0	0	0	0	0.0009	0	4.41e-05	0	0	0.071	0.35165	T	0.133	0.36101	T	0.003	0.11197	B	0.0	0.01387	B	0.000004	0.62929	N	0.104471	0.992161	0.41571	D	2.055	0.56616	M	0.87	0.46412	T	-0.7	0.19933	N	0.264	0.29889	-1.0172	0.24625	T	0.106	0.38661	T	10	0.023852855	0.00637	T	0.091592	0.75735	D	0.141	0.37795	.	.	0.104622674875	0.10061	0.4596309698777074	0.45881	0.0516142567597	0.05681	0.327381700277	0.14539	T	0.157549	0.50019	T	-0.356893	0.04308	T	-0.524727	0.19818	T	0.0429699830710888	0.04232	T	0.914909	0.70943	D	0.10749728	0.25419	0.15171356	0.35727	0.10749728	0.25419	0.15171356	0.35726	-9.771	0.72528	D	0.19214327076996848	0.25236	0.072	0.24054	B	.;.	.;.	1.205884	0.15982	12.24	0.95724477302600308	0.27653	0.54777	0.29699	D	AEFBHCI	0.226594	0.35052	N	-0.76613708139529	0.14199	0.7053701	-0.841646002821025	0.13488	0.6999816	0.999969667738395	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	1.2	0.20181	0.519000	0.22570	-0.364000	0.09654	0.545000	0.25583	0.052000	0.21487	0.000000	0.08366	0.061000	0.16044	0.0:0.7428:0.0:0.2572	9.191	0.36357	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1209.98	37	chr16	88655724	.	C	T	1209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.904e+00;DP=873;ExcessHet=0.0000;FS=2.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=1.07;SOR=0.678	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1224,0,1586	20	0	1	0
chr16	88733987	88733987	-	CTG	exonic	PIEZO1	.	nonframeshift insertion	PIEZO1:NM_001142864:exon17:c.2247_2248insCAG:p.Q749_E750insQ,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1886238	not_provided|PIEZO1-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0	0	0	0	0.0002	0	0.0094	0.0004528	70	154602	rs751621696	0.0004	0.0004	0.0002	0.0006	0.0057	0.0004	0.0003	0.0052	0.0050	0	8.719e-05	0	0.0002	2.128e-05	0	4.949e-05	0.0003	0.0057	0.0002	0.0002	0.0001	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0	0	0.0002	0	0.0002	0	0	2.956e-05	0	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1431.94	44	chr16	88733987	.	C	CCTG	1431.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.191e+00;DP=880;ExcessHet=0.0000;FS=1.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.36;ReadPosRankSum=0.973;SOR=0.990	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1446,0,1184	20	0	1	0
chr16	88737957	88737957	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon8:c.C997T:p.R333C,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	425	1096	1	0	0	1	0.000455996	.	.	726911	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.039	B	0.005	B	.	.	1.000	N	0	N	-0.72	T	-0.997	T	0.094	T	0.427	2.340	13.78	4.19	2.416	0.482	13.814	0.110	.	.	0.00239617	0.0014	0	0	0.0195	0	0.0010	0.0137	0.0012	0.0003428	53	154602	rs143004911	0.0008	0.0008	0.0008	0.0009	0.0204	0.0008	0.0008	0.0192	0.0187	9.515e-05	0.0003	0.0029	0.0204	0	0	0.0001	0.0013	0.0010	0.0008	0.0008	0.0007	0.0008	0.0150	0.0006	0.0006	0.0123	0.0114	7.215e-05	0	0.0004	0.0026	0.0150	0	0	0.0002	0.0009	0.0006	0.187	0.21385	T	0.032	0.53426	D	0.039	0.21116	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	2.045	0.56016	M	-0.72	0.72994	T	-1.85	0.43334	N	0.555	0.58031	-0.9968	0.30810	T	0.094	0.35524	T	9	0.0040435493	0.00079	T	.	.	.	0.237	0.54074	.	.	0.309943084671	0.30607	0.44113100349280254	0.44030	.	.	0.292974889278	0.09357	T	0.009063	0.08271	T	-0.352474	0.04573	T	-0.267404	0.48082	T	0.0411345874369868	0.03896	T	0.666933	0.27600	T	0.102007024	0.24099	0.07554215	0.16643	0.102007024	0.24099	0.07554215	0.16642	-5.932	0.45707	T	0.4302056291097098	0.51746	0.125	0.26294	B	.	.	2.755678	0.36129	20.2	0.99093370185399532	0.52272	0.17326	0.19788	N	AEFDGBCI	0.211081	0.33690	N	-0.720290145267236	0.15452	0.7788359	-0.647638031883569	0.18276	0.9756255	0.989436683447456	0.31825	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.691587	0.68394	0	.	.	5.21	4.19	0.48645	1.160000	0.31372	2.908000	0.35491	0.676000	0.76740	0.071000	0.22100	0.252000	0.23925	0.004000	0.06068	0.0:0.0:0.8139:0.1861	13.814	0.62773	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	0.02381	784.98	50	chr16	88737957	.	G	A	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=1205;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=-1.402e+00;SOR=0.944	GT:AD:DP:GQ:PL	0/1:31,25:56:99:799,0,818	20	0	1	0
chr16	88804016	88804016	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon1:c.C185T:p.A62V,	Meier-Gorlin syndrome 4, Autosomal recessive	.	23	1495	4	0	0	4	0.00133601	.	.	429858	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.31	T	0.063	B	0.026	B	0.223	U	1.000	N	0.695	N	0.12	T	-1.014	T	0.125	T	0.1	2.868	15.55	1.72	0.701	-0.019	6.368	0.016	.	.	0.00399361	0.0022	0	0	0	.	0.0028	0.0204	0.0018	0.0004528	70	154602	rs561655241	0.0031	0.0030	0.0032	0.0030	0.0381	0.0030	0.0030	0.0362	0.0355	7.642e-05	0.0074	0.0013	0.0381	0.0500	0.0008	0.0007	0.0039	0.0022	0.0073	0.0073	0.0040	0.0107	0.0199	0.0069	0.0068	0.0168	0.0156	0.0002	0	0.0088	0.0012	0.0199	0.0685	0	0.0016	0.0024	0.0029	0.275	0.15770	T	0.304	0.20100	T	0.063	0.23376	B	0.026	0.20792	B	0.223214	0.03469	U	1.694100	1	0.08975	N	1.525	0.38595	L	0.12	0.61089	T	-0.93	0.24898	N	0.081	0.05670	-1.0141	0.25625	T	0.125	0.42987	T	10	0.0029655993	0.00048	T	.	.	.	0.016	0.02506	.	.	0.788843201971	0.78689	0.15653103841063754	0.15574	1.24358563455	0.81613	0.81175994873	0.83762	D	0.048771	0.28114	T	-0.528107	0.00394	T	-0.514446	0.20860	T	0.0190828662680043	0.00616	T	0.525248	0.17252	T	0.039123353	0.05343	0.036193017	0.03018	0.039123353	0.05343	0.036193017	0.03018	-5.121	0.38128	T	.	.	0.096	0.15475	B	.	.	2.036367	0.25880	16.92	0.99299389085359735	0.58577	0.00920	0.03580	N	AEFDGBHCI	0.025633	0.01789	N	-0.935554794827287	0.10020	0.4768428	-0.944098751088034	0.11060	0.5611513	0.999999853437024	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.375	0.06713	1	.	.	3.83	1.72	0.23498	1.856000	0.39028	1.322000	0.25609	0.399000	0.20540	0.003000	0.16062	0.002000	0.18203	0.012000	0.09680	0.0:0.6961:0.1917:0.1122	6.368	0.20670	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	300.98	22	chr16	88804016	.	C	T	300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=610;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-2.257e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,13:26:99:315,0,262	20	0	1	0
chr16	88811562	88811562	C	T	exonic	APRT	.	nonsynonymous SNV	APRT:NM_000485:exon2:c.G175A:p.D59N	Adenine phosphoribosyltransferase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1403155	Adenine_phosphoribosyltransferase_deficiency|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013869,MedGen:C0268120,OMIM:614723,Orphanet:976|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.897	P	0.000	D	1.000	D	2.715	M	-3.76	D	1.071	D	0.981	D	0.259	5.033	29.7	3.67	0.931	2.654	11.341	0.783	0.974317660148	.	.	0.0002	0	0	0	0	0.0002	0.0039	0.0003	5.17e-05	8	154602	rs768268700	4.845e-05	4.994e-05	3.987e-05	5.714e-05	0.0001	3.905e-05	3.582e-05	8.219e-05	6.411e-05	0	0	0.0012	2.572e-05	0	0	1.538e-05	0.0002	0.0001	4.595e-05	4.593e-05	3.853e-05	5.37e-05	0.0002	2.107e-05	1.526e-05	.	.	0	0	0	0.0012	0.0002	0	0	1.47e-05	0	0.0002	0.043	0.68238	D	0.003	0.79402	D	1.0	0.90584	D	0.897	0.63631	P	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.62	0.76659	M	-3.76	0.99530	D	-4.1	0.77637	D	0.348	0.38950	1.071	0.98609	D	0.981	0.99427	D	10	0.6448149	0.69264	D	0.974318	0.99851	D	0.783	0.92787	0.716	0.85141	0.952608595113	0.95211	0.8458000947612423	0.84541	0.580823813372	0.53909	0.646812260151	0.59532	T	0.891441	0.97798	D	0.00794731	0.52744	T	-0.0110257	0.69618	D	0.763430237770081	0.44050	D	0.939106	0.94607	D	0.75520587	0.81171	0.5836671	0.75861	0.75520587	0.81173	0.5836671	0.75862	-9.194	0.68937	D	0.2737703111065081	0.36787	0.222	0.57392	B	.;.;.;.	.;.;.;.	4.508037	0.70568	25.5	0.99840019621282428	0.92057	0.94417	0.61099	D	ALL	0.527754	0.54957	D	0.447303525196089	0.64050	4.65108	0.36399564136371	0.59354	4.112656	0.999999999999995	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.63	3.67	0.41236	1.651000	0.36918	4.616000	0.44056	0.549000	0.26987	0.992000	0.37556	1.000000	0.68203	0.659000	0.32940	0.0:0.9094:0.0:0.0905	11.341	0.48770	846	0.36215	Phosphoribosyltransferase domain|Phosphoribosyltransferase domain;Phosphoribosyltransferase domain|Phosphoribosyltransferase domain;.;Phosphoribosyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	474.98	37	chr16	88811562	.	C	T	474.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.350e-01;DP=784;ExcessHet=0.0000;FS=6.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=0.021;SOR=0.724	GT:AD:DP:GQ:PL	0/1:27,21:48:99:489,0,685	20	0	1	0
chr16	89279761	89279761	C	T	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.G6781A:p.E2261K	KBG syndrome, Autosomal dominant	.	3	1518	1	0	0	1	0.000329272	.	.	580170	KBG_syndrome|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.62	T	0.051	B	0.016	B	0.056	N	1.000	N	1.1	L	1.17	T	-1.044	T	0.072	T	0.102	0.421	6.288	1.95	0.159	0.994	6.922	0.035	.	.	.	0.0086	0.0044	0	0	0	0	0	0.0138	0.0004657	72	154602	rs770262960	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0046	0.0045	0	5.701e-05	0	0	0	0.0006	5.229e-05	0.0002	0.0051	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	0	0	0	0	0	0	0	8.823e-05	0	0.0046	0.047	0.40319	D	0.671	0.06284	T	0.051	0.22415	B	0.016	0.17743	B	0.055789	0.02077	N	2.140360	1	0.08975	N	1.955	0.52871	M	1.17	0.37910	T	-0.74	0.20791	N	0.123	0.11483	-1.0445	0.15971	T	0.072	0.29163	T	10	0.0038250685	0.00072	T	.	.	.	0.035	0.08770	0.135	0.03920	0.246926113748	0.24311	0.03812351147167107	0.03758	0.109849759272	0.12387	0.472097814083	0.34969	T	0.163395	0.50843	T	-0.580946	0.00190	T	-0.604653	0.12422	T	0.0235768103740576	0.01092	T	0.517048	0.16713	T	0.042798717	0.06557	0.04701684	0.06680	0.049774308	0.08888	0.046002828	0.06316	-5.745	0.44092	T	0.19010334670899973	0.24891	0.076	0.06069	B	.;.;.	.;.;.	0.599302	0.09679	6.448	0.80091745696186967	0.13040	0.16434	0.19387	N	AEFDBCI	0.059653	0.11282	N	-0.989375414887727	0.08830	0.4155391	-1.00502612150175	0.09674	0.4826884	0.970850599172869	0.29240	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.96	1.95	0.25130	0.719000	0.25552	0.962000	0.22998	0.573000	0.29008	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.626:0.1927:0.1813	6.922	0.23576	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	0.02381	709.98	33	chr16	89279761	.	C	T	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.890e-01;DP=789;ExcessHet=0.0000;FS=2.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=1.16;SOR=0.570	GT:AD:DP:GQ:PL	0/1:34,31:65:99:724,0,859	20	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.473	N	1.000	N	-0.69	N	1.34	T	-1.005	T	0.024	T	0.026	-1.923	0.008	-1.61	-0.189	0.562	1.593	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.3529	1077.74	147	chr16	89284161	.	A	G	1077.74	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.922e+00;DP=2410;ExcessHet=9.6308;FS=135.155;InbreedingCoeff=-0.4981;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.835;SOR=11.622	GT:AD:DP:GQ:PL	0/1:108,36:144:99:130,0,2213	5	0	12	4
chr16	89637362	89637362	C	G	exonic	DPEP1	.	nonsynonymous SNV	DPEP1:NM_001128141:exon7:c.C750G:p.D250E	.	.	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.985	D	0.000	D	0.996	D	3.92	H	-1.04	T	0.326	D	0.671	D	0.882	2.244	13.46	-4.33	-0.981	-2.029	12.073	0.570	0.191113193284	.	.	0.0006	0	0	0	0	0	0	0.0044	0.0004722	73	154602	rs200553738	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0033	0	0	0	0	0	0.0002	8.994e-07	0.0001	0.0038	0.0001	0.0001	3.853e-05	0.0002	0.0037	7.569e-05	6.275e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.001	0.78490	D	0.002	0.79402	D	0.995	0.67487	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.995864	0.42895	D	3.67	0.94359	H	-1.04	0.76561	T	-3.92	0.73151	D	0.817	0.81360	0.326	0.87964	D	0.671	0.88583	D	10	0.49962136	0.61471	T	0.191113	0.86164	D	0.570	0.82516	0.935	0.99047	0.381409048467	0.37754	0.8713192400383022	0.87097	0.0717173949615	0.08036	0.438019275665	0.30306	T	0.39524	0.75418	T	-0.0459009	0.45068	T	0.16077	0.80854	D	0.450999110687265	0.30834	T	0.914909	0.69682	D	0.80732894	0.84378	0.622572	0.78008	0.80732894	0.84380	0.622572	0.78009	-8.3	0.63095	D	.	.	0.692	0.72610	P	.;.;.	.;.;.	0.667742	0.10363	7.089	0.9885896348022748	0.47442	0.42011	0.26784	N	AEFDGBCI	0.525881	0.54847	D	-0.420536974327895	0.24749	1.338623	-0.784955305798863	0.14863	0.7788668	0.999965949629394	0.48965	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.92	-4.33	0.03423	-1.663000	0.02070	-9.830000	0.00771	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.3856:0.0:0.6144	12.073	0.52925	814	0.42100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1689.98	37	chr16	89637362	.	C	G	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.720e-01;DP=862;ExcessHet=0.0000;FS=2.178;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=2.05;SOR=0.509	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1704,0,1748	20	0	1	0
chr16	90032745	90032745	C	G	exonic	GAS8	.	nonsynonymous SNV	GAS8:NM_001286205:exon4:c.C67G:p.L23V	Ciliary dyskinesia, primary, 33, Autosomal recessive	.	422	1099	1	0	0	1	0.000454752	.	.	530784	Primary_ciliary_dyskinesia_33	MONDO:MONDO:0014750,MedGen:C4225230,OMIM:616726,Orphanet:244	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.998	D	0.000	D	1.000	D	3.16	M	1.2	T	-0.388	T	0.292	T	0.824	4.210	21.9	5.91	2.804	0.615	14.468	0.233	0.036396947831	7.7e-05	0.000399361	0.0005	9.615e-05	0	0	0	1.5e-05	0.0033	0.0032	0.0003881	60	154602	rs140344685	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	0.0001	2.237e-05	0	0	0	0	3.597e-05	0.0002	0.0032	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	8.722e-05	0.0018	0.0014	0.0002	0	0	0	0	0	0	0	0.0009	0.0029	0.03	0.63226	D	0.042	0.56640	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.2	0.37746	T	-2.2	0.52289	N	0.571	0.59393	-0.3875	0.72420	T	0.292	0.66393	T	9	0.016557008	0.00349	T	0.036397	0.56964	D	0.233	0.53499	.	.	0.339555952218	0.33569	0.2617644226040734	0.26089	0.0839518513785	0.09469	0.649728417397	0.59947	T	0.14081	0.47554	T	-0.191293	0.22067	T	-0.051233	0.66938	D	0.201506805350652	0.20499	T	0.976502	0.91859	D	0.204449	0.42555	0.21911705	0.46639	0.20446754	0.42557	0.23497649	0.48728	-9.489	0.74893	D	.	.	0.436	0.66837	A	.;.;.;.;.	.;.;.;.;.	3.507948	0.49109	22.7	0.99848208517616643	0.92750	0.96154	0.67780	D	AEFDGBHI	0.495598	0.53090	N	0.738096576955428	0.82129	7.686709	0.694517976936683	0.81962	7.650859	0.999999997099958	0.74766	0.706548	0.73137	0	0.524598	0.11158	1	0.724815	0.87919	0	0.756233	0.99697	0	.	.	5.91	5.91	0.95240	0.578000	0.23476	0.511000	0.19080	0.599000	0.40250	0.997000	0.40164	0.996000	0.32793	0.996000	0.76049	0.0:0.9281:0.0:0.0719	14.468	0.67075	759	0.50631	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2048.98	39	chr16	90032745	.	C	G	2048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.269e+00;DP=1104;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=1.00;SOR=0.601	GT:AD:DP:GQ:PL	0/1:84,84:168:99:2063,0,2281	20	0	1	0
chr16	90075852	90075852	C	T	exonic	PRDM7	.	nonsynonymous SNV	PRDM7:NM_001098173:exon2:c.G59A:p.R20Q,	.	.	400	1119	3	0	0	3	0.00133869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	B	0.001	B	.	.	1.000	N	-0.205	N	2.82	T	-0.930	T	0.005	T	0.039	-0.114	3.442	-1.02	-0.259	0.095	2.712	0.006	.	0.0003	0.00259585	0.0021	0	0	0.0151	0.0022	0.0012	0.0024	0.0014	0.0017335	268	154602	rs144692165	0.0011	0.0011	0.0011	0.0011	0.0232	0.0011	0.0011	0.0219	0.0214	2.987e-05	0.0001	0.0008	0.0232	0.0022	0.0005	0.0003	0.0012	0.0016	0.0008	0.0008	0.0007	0.0010	0.0129	0.0007	0.0007	0.0104	0.0095	4.81e-05	0	0.0003	0	0.0129	0.0021	0	0.0003	0	0.0027	0.335	0.12920	T	0.353	0.17320	T	0.008	0.14655	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.82	0.10871	T	-0.11	0.08653	N	0.106	0.09066	-0.9304	0.44080	T	0.005	0.01725	T	8	0.0034432411	0.00061	T	.	.	.	0.006	0.00375	.	.	0.0762999501168	0.06990	0.08908170968935218	0.08841	0.0618120787158	0.06886	0.263909578323	0.05365	T	0.020015	0.15833	T	-0.769923	0.00013	T	-0.86833	0.00758	T	0.00765182279565243	0.00089	T	0.49515	0.15352	T	0.023965793	0.01182	0.027291644	0.00872	0.023965793	0.01182	0.027291644	0.00872	-3.898	0.22273	T	.	.	0.067	0.02578	B	.;.	.;.	0.480527	0.08498	5.261	0.66112006586106919	0.07964	0.00729	0.03060	N	AEFBI	0.031717	0.03446	N	-1.44025706935271	0.02294	0.1011503	-1.50391747384553	0.02314	0.1062226	0.796287780310632	0.24105	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.39	-1.02	0.09618	-0.017000	0.12529	-0.536000	0.08609	-0.973000	0.01932	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.4761:0.306:0.2179	2.712	0.04857	819	0.41190	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1896.98	37	chr16	90075852	.	C	T	1896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=923;ExcessHet=0.0000;FS=2.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-7.990e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/1:71,74:145:99:1911,0,1656	20	0	1	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2918.97	43	chr17	413815	.	C	T,*	2918.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-9.170e-01;DP=995;ExcessHet=1.0444;FS=2.763;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=51.80;MQRankSum=-3.755e+00;QD=7.60;ReadPosRankSum=-9.580e-01;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,20,0:51:99:0|1:413815_C_T:716,0,1216,809,1276,2085:413815	10	0	5	3
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3137.97	43	chr17	413822	.	C	A,*	3137.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-1.168e+00;DP=1002;ExcessHet=1.0444;FS=2.178;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.17;MQRankSum=-3.592e+00;QD=7.94;ReadPosRankSum=-4.250e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,21,0:54:99:0|1:413815_C_T:751,0,1297,851,1360,2211:413815	10	0	5	3
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3065.97	43	chr17	413824	.	C	T,*	3065.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.335;DP=1012;ExcessHet=1.0444;FS=2.500;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.20;MQRankSum=-3.428e+00;QD=7.59;ReadPosRankSum=-6.710e-01;SOR=0.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,22,0:55:99:0|1:413815_C_T:733,0,1297,833,1360,2192:413815	10	0	5	3
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3197.3	43	chr17	413831	.	A	G,*	3197.3	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.140;DP=1043;ExcessHet=1.1637;FS=2.534;InbreedingCoeff=0.0221;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.56;MQRankSum=-3.559e+00;QD=7.69;ReadPosRankSum=-1.155e+00;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,20,0:58:99:0|1:413815_C_T:636,0,1417,749,1474,2222:413815	10	0	5	3
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	not_provided|GEMIN4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.095	M	2.54	T	-1.121	T	0.064	T	0.287	2.686	14.94	4.76	1.046	2.785	11.176	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2382.98	33	chr17	746331	.	T	C	2382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.012e+00;DP=2707;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=-4.210e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:87,91:178:99:2397,0,2417	20	0	1	0
chr17	1784360	1784360	T	A	exonic	SMYD4	.	nonsynonymous SNV	SMYD4:NM_052928:exon8:c.A1986T:p.R662S,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.0	B	0.635	N	1.000	N	0.345	N	-0.02	T	-1.014	T	0.101	T	0.217	-0.118	3.424	-3.91	-0.577	-0.234	7.635	0.090	0.0171131945427	.	.	0.0003	0	0.0002	0	0	0.0002	0.0011	0.0007	0.000207	32	154602	rs761931183	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0007	0.0006	0	4.472e-05	0	0	0	0.0012	0.0001	0.0001	0.0008	7.22e-05	7.217e-05	6.423e-05	8.053e-05	0.0006	3.967e-05	3.124e-05	0.0002	8.992e-05	0	0	0	0	0.0002	0	0	0.0001	0	0.0006	0.656	0.04757	T	0.702	0.05685	T	0.0	0.02946	B	0.0	0.01387	B	0.634647	0.05833	N	1.155610	1	0.08975	N	0	0.06538	N	-0.02	0.62918	T	-0.15	0.09297	N	0.278	0.31478	-1.0139	0.25688	T	0.101	0.37316	T	10	0.018406987	0.00400	T	0.017113	0.38673	T	0.090	0.26093	0.455	0.51938	0.238096912614	0.23440	0.22762712985228942	0.22677	0.0854028739893	0.09651	0.224815115333	0.01606	T	0.003008	0.02412	T	-0.456804	0.01029	T	-0.518098	0.20487	T	0.00585110884896046	0.00064	T	0.574842	0.20648	T	0.0657858	0.14094	0.037299655	0.03355	0.0657858	0.14094	0.037299655	0.03355	-3.43	0.15463	T	.	.	0.112	0.21840	B	.;.	.;.	1.502415	0.19314	14.20	0.7195271551881991	0.09805	0.01927	0.05881	N	AEFGBHCI	0.073192	0.14632	N	-1.40305196387826	0.02612	0.1155807	-1.40035342270228	0.03249	0.1511688	0.999996943122186	0.74766	0.712529	0.81865	0	0.653731	0.59785	0	0.635938	0.45252	0	0.692231	0.68500	0	.	.	5.96	-3.91	0.03892	-0.209000	0.09362	-0.649000	0.08038	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.389000	0.26536	0.0:0.2958:0.474:0.2302	7.635	0.27427	614	0.66605	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1211.98	33	chr17	1784360	.	T	A	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.548e+00;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=-4.960e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1226,0,1379	20	0	1	0
chr17	2172704	2172704	A	G	exonic	SMG6	.	nonsynonymous SNV	SMG6:NM_001256828:exon5:c.T587C:p.L196P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.034	N	1.000	D	1.245	L	2.25	T	-1.118	T	0.089	T	0.972	3.435	17.62	6.02	2.309	7.990	15.114	0.482	0.0592109156591	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444361855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.72154	D	0.033	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.034131	0.24809	N	0.309611	1	0.81001	D	2.515	0.73286	M	2.25	0.17761	T	-3.1	0.73579	D	0.895	0.93959	-1.1184	0.02435	T	0.089	0.34243	T	10	0.78461564	0.78140	D	0.059211	0.67586	D	0.482	0.77206	0.552	0.66856	0.657437319468	0.65457	0.8762980198381667	0.87596	0.884013487676	0.69889	0.738139510155	0.72698	T	0.210281	0.57073	T	0.252104	0.78797	D	0.124354	0.78521	D	0.98939323425293	0.79633	D	0.80242	0.67118	T	0.6753582	0.76720	0.49724254	0.70928	0.6753582	0.76721	0.49724254	0.70929	-9.671	0.71919	D	.	.	0.995	0.95479	P	.;.;.;.;.	.;.;.;.;.	4.903630	0.80616	27.4	0.99796572582646481	0.88194	0.94971	0.62970	D	ALL	0.959013	0.97911	D	0.719274298453759	0.80895	7.39705	0.753400806973324	0.86409	8.880552	1.0	0.98316	0.730579	0.87903	0	0.724815	0.89359	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	6.02	6.02	0.97559	7.987000	0.87812	11.283000	0.91806	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.114	0.72054	324	0.86790	DNA/RNA-binding domain, Est1-type;.;.;.;DNA/RNA-binding domain, Est1-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1261.98	33	chr17	2172704	.	A	G	1261.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.730e+00;DP=783;ExcessHet=0.0000;FS=2.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-7.030e-01;SOR=0.423	GT:AD:DP:GQ:PL	0/1:40,53:93:99:1276,0,995	20	0	1	0
chr17	3663755	3663755	A	G	exonic	TAX1BP3	.	nonsynonymous SNV	TAX1BP3:NM_001204698:exon3:c.T290C:p.L97P	.	.	419	1061	39	3	0	45	0.020766	.	.	1948661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.096	B	0.006	B	0.135	U	1.000	D	0	N	2.48	T	-1.024	T	0.014	T	0.51	2.700	14.99	5.05	2.038	4.343	10.458	0.088	.	0.0056	0.00559105	0.0076	0.0008	0.0042	0	0.0117	0.0079	0.0112	0.0153	0.0065329	1010	154602	rs143045421	0.0069	0.0069	0.0066	0.0072	0.0177	0.0068	0.0067	0.0147	0.0140	0.0010	0.0055	0.0188	0	0.0135	0.0177	0.0061	0.0072	0.0150	0.0061	0.0061	0.0056	0.0066	0.0159	0.0058	0.0057	0.0131	0.0120	0.0009	0.0253	0.0067	0.0184	0.0004	0.0151	0.0136	0.0066	0.0052	0.0159	0.004	0.65419	D	0.011	0.64786	D	0.096	0.25489	B	0.006	0.12133	B	0.134888	0.18500	U	0.496538	0.999909	0.50806	D	0.69	0.16971	N	2.48	0.14657	T	0.08	0.06026	N	0.349	0.43995	-1.0236	0.22541	T	0.014	0.05417	T	10	0.0056372285	0.00125	T	.	.	.	0.088	0.25558	.	.	0.167679373172	0.16340	0.6078694356104023	0.60718	0.822542354302	0.67239	0.660965800285	0.61548	T	0.013844	0.11897	T	-0.450497	0.01122	T	-0.40756	0.32507	T	0.0197139498959932	0.00673	T	0.789121	0.42899	T	0.3396613	0.56253	0.27132738	0.53032	0.3704624	0.58620	0.27132738	0.53031	-4.721	0.33657	T	.	.	0.192	0.41187	B	.;.	.;.	4.457874	0.69356	25.4	0.99505271256979999	0.68264	0.85361	0.44486	D	AEFDBHCIJ	0.859156	0.77678	D	-0.141860665605888	0.35583	2.04563	0.0697369917087685	0.43037	2.613753	0.9999985346376	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	2.498000	0.45023	11.212000	0.89433	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8368:0.1632:0.0:0.0	10.458	0.43750	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	561.11	36	chr17	3663755	.	A	G	561.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.258;DP=689;ExcessHet=0.1072;FS=2.327;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.05;ReadPosRankSum=1.03;SOR=1.164	GT:AD:DP:GQ:PL	0/1:11,8:19:99:210,0,295	19	0	2	0
chr17	4933836	4933836	C	T	exonic	GP1BA	.	nonsynonymous SNV	GP1BA:NM_000173:exon2:c.C1232T:p.P411L,	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	65	1432	9	3	13	28	0.00521014	.	.	256258	GP1BA-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.849	P	0.061	N	0.977	D	1.62	L	-0.5	T	-0.320	T	0.392	T	0.263	2.640	14.79	4.75	2.181	-0.237	13.233	0.223	0.409234085502	0.0003	0.00179712	0.0011	0	0.0003	0	0	0.0008	0.0013	0.0043	0.0005379	14	26028	rs139921368	0.0007	0.0007	0.0006	0.0009	0.0103	0.0007	0.0007	0.0081	0.0073	3.218e-05	0.0004	0.0062	0	9.22e-05	0.0103	0.0003	0.0012	0.0054	0.0006	0.0007	0.0007	0.0005	0.0043	0.0005	0.0004	0.0028	0.0023	0	0	0.0004	0.0088	0	0.0001	0.0038	0.0005	0.0005	0.0043	0.001	0.78490	D	0.008	0.79402	D	.	.	.	.	.	.	0.060994	0.22206	N	0.231856	0.977361	0.39360	D	1.79	0.46772	L	-0.5	0.70480	T	-2.75	0.58407	D	0.079	0.10198	-0.3202	0.74416	T	0.392	0.74561	T	10	0.007501811	0.00171	T	0.409234	0.93562	D	0.223	0.52023	.	.	0.860402054649	0.85905	0.1318105993614151	0.13106	0.110247832495	0.12439	0.180596113205	0.00099	T	0.525591	0.83488	D	-0.400171	0.02309	T	-0.349068	0.39312	T	0.0561652924732646	0.06551	T	0.882812	0.60417	D	0.07960413	0.18194	0.087891996	0.20460	0.09520517	0.22400	0.0975654	0.23228	-6.348	0.49102	T	0.3752944579353178	0.47036	0.100	0.17232	B	.;.	.;.	0.453327	0.08233	4.973	0.87633912005926262	0.17369	0.34515	0.25086	N	AEFBCI	0.085307	0.17292	N	-0.0820000087491434	0.38183	2.232379	-0.223685744150735	0.30689	1.730123	0.996179405134013	0.34572	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	4.75	4.75	0.59954	0.328000	0.19425	-0.427000	0.09246	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	13.233	0.59383	393	0.83123	.;.	.	.	.	.	.	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	1	0	0.05882	5655.15	135	chr17	4933836	.	C	T	5655.15	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-6.400e-01;DP=2479;ExcessHet=0.1128;FS=1.260;InbreedingCoeff=-0.1053;MLEAC=2;MLEAF=0.059;MQ=59.94;MQRankSum=0.071;QD=15.84;ReadPosRankSum=0.802;SOR=0.620	GT:AD:DP:GQ:PL	0/1:67,111:178:99:3059,0,1666	15	0	2	4
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,116,0:185:99:0|1:4933907_ACCACCCCAGAGCCCAC_A:3631,0,1911,3837,2262,6099:4933907	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,116,57:174:99:.:.:5718,1576,1642,3882,0,3654	0	10	6	1
chr17	5004971	5004971	C	G	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon13:c.C1136G:p.A379G,	Spastic ataxia 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	467921	Hereditary_spastic_paraplegia|Spastic_ataxia_2|not_provided	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.58	P	0.097	B	.	.	0.908	D	0.295	N	-0.84	T	-0.877	T	0.155	T	0.205	2.718	15.05	3.85	1.393	4.720	6.800	0.179	0.0271980553363	0.0003	0.000199681	0.0005	9.615e-05	0.0003	0	0	0.0008	0	0.0004	0.000511	79	154602	rs79290524	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	5.974e-05	0.0001	0	0	7.489e-05	0.0005	0.0006	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0005	0.0004	7.214e-05	0	0.0002	0	0	0	0	0.0006	0	0.0004	0.157	0.23997	T	0.193	0.28210	T	0.58	0.38813	P	0.097	0.30390	B	.	.	.	.	0.908234	0.36343	D	0.785	0.19527	N	-0.84	0.74265	T	-3.24	0.65171	D	0.382	0.42345	-0.8768	0.50013	T	0.155	0.48602	T	9	0.0960601	0.17204	T	0.027198	0.50036	D	0.179	0.44899	.	.	0.647812287602	0.64489	0.4777291250190419	0.47692	0.396891306681	0.40796	0.617013990879	0.55307	T	0.470217	0.80343	T	-0.337145	0.05588	T	-0.348612	0.39364	T	0.031666597810806	0.02252	T	0.968503	0.88585	D	0.12378793	0.29058	0.21027271	0.45406	0.12378793	0.29058	0.21027271	0.45405	-8.593	0.65043	D	0.20538150801328234	0.27398	0.152	0.33664	B	.	.	5.829481	0.93732	33	0.99261476353258526	0.57222	0.97885	0.77862	D	AEFBI	0.718675	0.66980	D	-0.0722077896276571	0.38613	2.264338	0.0607617025288496	0.42595	2.579081	0.0311225373759808	0.13984	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.82	3.85	0.43556	4.945000	0.63269	5.917000	0.51107	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.978000	0.57271	0.0:0.7268:0.1788:0.0944	6.800	0.22929	576	0.70006	Kinesin-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	888.98	34	chr17	5004971	.	C	G	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.429e+00;DP=822;ExcessHet=0.0000;FS=0.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-2.010e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/1:45,38:83:99:903,0,1265	20	0	1	0
chr17	5108940	5108940	G	A	exonic	ZNF232	.	nonsynonymous SNV	ZNF232:NM_001320952:exon3:c.C611T:p.P204L	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.004	B	0.007	B	0.104	N	0.999	D	0.345	N	3.19	T	-0.986	T	0.011	T	0.083	1.773	11.89	2.86	0.902	1.250	5.179	0.094	0.0604894586746	.	0.000998403	0.0006	0	8.637e-05	0	0	0.0002	0	0.0031	0.0004981	77	154602	rs149710317	0.0004	0.0004	0.0003	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0	4.472e-05	0.0001	0	0	0.0062	0.0002	0.0005	0.0036	0.0002	0.0002	0.0002	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	6.536e-05	0.0003	0	0	0.0034	0.0002	0	0.0048	0.765	0.03431	T	0.366	0.16668	T	.	.	.	.	.	.	0.104292	0.19710	N	0.271355	0.999054	0.45965	D	.	.	.	3.16	0.07711	T	0.62	0.02442	N	0.217	0.24260	-0.9856	0.33687	T	0.011	0.04042	T	10	0.0038862824	0.00074	T	0.060489	0.68019	D	0.094	0.27141	.	.	0.0297737177859	0.01360	0.2777137317567188	0.27684	0.2197955663	0.24518	0.326052337885	0.14337	T	0.003194	0.02596	T	-0.644636	0.00078	T	-0.702429	0.05694	T	0.0388728978443438	0.03488	T	0.468553	0.13811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30582	B	.;.	.;.	1.653020	0.21087	15.04	0.97580722171742107	0.34736	0.73162	0.35791	D	AEFDBI	0.049833	0.08648	N	-0.661643647908694	0.17122	0.8783616	-0.543791477222628	0.20970	1.132274	0.14231288637056	0.17296	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.84	2.86	0.32427	1.611000	0.36490	1.033000	0.23495	0.662000	0.56354	0.343000	0.25700	0.015000	0.20450	1.000000	0.97212	0.1127:0.0:0.6835:0.2038	5.179	0.14477	599	0.68140	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1205.11	34	chr17	5108940	.	G	A	1205.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.370e-01;DP=774;ExcessHet=0.1072;FS=2.393;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=1.29;SOR=0.932	GT:AD:DP:GQ:PL	0/1:31,25:56:99:630,0,851	19	0	2	0
chr17	5182216	5182216	G	A	exonic	ZNF594	.	stopgain	ZNF594:NM_032530:exon2:c.C2041T:p.Q681X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.960	20.3	-2.28	-0.378	-4.464	3.925	.	.	0.0002	0.000199681	0.0005	0	8.64e-05	0	0	0.0007	0	0.0004	0.0004463	69	154602	rs116878311	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	2.992e-05	4.472e-05	0	0	5.616e-05	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.863e-05	0	0.0002	0	0	0	0	0.0005	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.022	0.00618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.100565	0.36330	T	-0.0134814	0.69457	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	6.173861	0.94724	34	0.89574783931259849	0.18914	0.00000	0.00017	N	AEFDBHCI	0.022864	0.01197	N	-0.350848459496767	0.27241	1.493002	-0.825348406352602	0.13882	0.722495	0.00468820378769489	0.10671	0.660377	0.49826	0	0.611049	0.52481	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	1.14	-2.28	0.06438	-4.652000	0.00234	-20.000000	0.00162	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4668:0.2998:0.2334	3.925	0.08759	528	0.73785	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1656.98	105	chr17	5182216	.	G	A	1656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.643e+00;DP=1508;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=1.05;SOR=0.847	GT:AD:DP:GQ:PL	0/1:51,59:110:99:1671,0,1554	20	0	1	0
chr17	5183877	5183877	T	C	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.A380G:p.Y127C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.14	B	0.072	B	.	.	1.000	N	2.655	M	0.11	T	-0.835	T	0.180	T	0.21	0.185	4.998	-1.52	-0.234	-0.252	2.725	0.110	0.0122887916136	.	.	9.963e-05	0	0	0	0	7.515e-05	0	0.0004	7.76e-05	12	154602	rs753407769	2.738e-05	2.736e-05	1.77e-05	3.714e-05	0.0003	2.063e-05	1.817e-05	0.0002	0.0002	0	0	0	2.52e-05	3.755e-05	0	1.079e-05	1.657e-05	0.0003	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.017	0.51248	D	0.012	0.63918	D	0.14	0.27540	B	0.072	0.28043	B	.	.	.	.	0.999996	0.08975	N	2.145	0.60081	M	0.11	0.61208	T	-6.8	0.92903	D	0.219	0.25006	-0.8350	0.52976	T	0.180	0.52660	T	9	0.16579181	0.30978	T	0.012289	0.30730	T	0.110	0.31079	0.736	0.86892	0.267299060538	0.26338	0.030747194571744654	0.03023	0.0792629470943	0.08917	0.30556628108	0.11237	T	0.038508	0.24863	T	-0.379828	0.03123	T	-0.472854	0.25209	T	0.0607646429343139	0.07288	T	0.740526	0.35940	T	0.2773988	0.50798	0.32270634	0.58209	0.2773988	0.50798	0.32270634	0.58208	-7.31	0.56267	T	.	.	0.133	0.29615	B	.;.	.;.	3.346065	0.46131	22.2	0.93989672396619528	0.24077	0.00052	0.00397	N	AEFBCI	0.073174	0.14628	N	-0.996148575191334	0.08685	0.4081874	-1.17420190255552	0.06344	0.305052	5.52690174555596E-4	0.07304	0.615465	0.37627	0	0.601575	0.49859	0	0.54472	0.12158	0	0.655142	0.61905	0	.	.	2.39	-1.52	0.08181	-1.224000	0.03068	-0.722000	0.07700	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2056:0.2866:0.0:0.5079	2.725	0.04888	523	0.74147	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2325.98	42	chr17	5183877	.	T	C	2325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.54;DP=988;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=0.315;SOR=0.770	GT:AD:DP:GQ:PL	0/1:82,79:161:99:2340,0,2149	20	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,24,0:111:91:0|1:6800775_C_G:91,0,2564,349,2631,2980:6800775	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,24,0:111:91:0|1:6800775_C_G:91,0,2564,349,2631,2980:6800775	6	0	10	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.994	D	3.515	H	2.96	T	-0.982	T	0.107	T	0.857	4.089	21.0	2.8	0.492	1.521	8.074	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1944	1543.06	69	chr17	6800776	.	C	G,T	1543.06	.	AC=4,3;AF=0.111,0.083;AN=36;BaseQRankSum=-3.449e+00;DP=2429;ExcessHet=2.5830;FS=177.172;InbreedingCoeff=-0.2591;MLEAC=4,3;MLEAF=0.111,0.083;MQ=60.00;MQRankSum=0.00;QD=1.70;ReadPosRankSum=0.492;SOR=11.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,24:111:91:0|1:6800775_C_G:91,349,2980,0,2631,2564:6800775	11	0	4	3
chr17	7846277	7846277	C	T	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon6:c.C436T:p.R146C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.799	P	0.002	N	1.000	D	0.895	L	3.11	T	-1.143	T	0.035	T	0.652	3.286	17.03	4.48	2.496	2.667	15.039	0.160	0.0110084065525	0.0002	.	6.609e-05	0	0	0	0.0002	6.847e-05	0	0.0001	4.53e-05	7	154602	rs150425333	1.164e-05	1.163e-05	1.09e-05	1.238e-05	0.0003	7.09e-06	5.8e-06	6.092e-05	2.521e-05	2.989e-05	0	0	0	3.764e-05	0.0003	8.096e-06	0	3.483e-05	2.628e-05	2.627e-05	1.285e-05	4.034e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.411e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.994	0.66517	D	0.799	0.58136	P	0.002281	0.36846	N	0.112392	0.999971	0.53665	D	0.805	0.20218	L	3.11	0.08194	T	-2.29	0.50992	N	0.671	0.67908	-1.1433	0.01240	T	0.035	0.15074	T	10	0.19669065	0.35571	T	0.011008	0.28187	T	0.160	0.41473	.	.	0.179529687257	0.17594	0.6106432386851053	0.60996	0.158631535098	0.17909	0.591504454613	0.51705	T	0.139089	0.47294	T	-0.167245	0.25653	T	-0.296484	0.45094	T	0.294081020263963	0.24759	T	0.886911	0.65732	D	0.24037758	0.46940	0.14674096	0.34753	0.24037758	0.46940	0.14674096	0.34752	-8.512	0.64508	D	.	.	0.182	0.47172	B	.;.;.	.;.;.	4.978016	0.82433	27.8	0.99842182395142554	0.92229	0.84016	0.43103	D	AEFBI	0.442960	0.50047	N	0.450867818875119	0.64251	4.675612	0.461677426954175	0.65471	4.827914	0.999999999437025	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	2.108000	0.41478	7.608000	0.61804	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	15.039	0.71441	298	0.88068	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2262.98	33	chr17	7846277	.	C	T	2262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=918;ExcessHet=0.0000;FS=3.074;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=-1.274e+00;SOR=0.467	GT:AD:DP:GQ:PL	0/1:58,89:147:99:2277,0,1219	20	0	1	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,49,0,0,0,0:49:99:2194,146,0,2196,148,2198,2196,148,2198,2198,2196,148,2198,2198,2198,2196,148,2198,2198,2198,2198	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,49,0,0,0,0:49:99:2194,146,0,2196,148,2198,2196,148,2198,2198,2196,148,2198,2198,2198,2196,148,2198,2198,2198,2198	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,49,0,0,0,0:49:99:2194,146,0,2196,148,2198,2196,148,2198,2198,2196,148,2198,2198,2198,2196,148,2198,2198,2198,2198	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,49,0,0,0,0:49:99:2194,146,0,2196,148,2198,2196,148,2198,2198,2196,148,2198,2198,2198,2196,148,2198,2198,2198,2198	0	14	0	0
chr17	8047001	8047001	G	A	exonic	ALOX15B	.	nonsynonymous SNV	ALOX15B:NM_001039130:exon9:c.G1295A:p.R432Q	.	.	427	1054	40	1	0	42	0.0195349	.	.	578554	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.58	T	0.047	B	0.015	B	0.318	N	1.000	N	-0.095	N	-1.0	T	-1.023	T	0.093	T	0.056	0.846	8.421	-1.12	0.163	-0.382	4.854	0.125	.	0.0015	0.00459265	0.0037	0	0.0023	0.0002	0.0005	0.0025	0.0044	0.0153	0.0034346	531	154602	rs140623478	0.0023	0.0023	0.0019	0.0028	0.0151	0.0023	0.0023	0.0145	0.0142	5.974e-05	0.0015	0.0063	0.0004	0.0007	0.0149	0.0014	0.0033	0.0151	0.0017	0.0017	0.0014	0.0020	0.0157	0.0015	0.0014	0.0129	0.0118	0.0002	0	0.0012	0.0026	0.0002	0.0007	0.0102	0.0019	0.0033	0.0157	0.548	0.06627	T	0.799	0.06186	T	0.047	0.21998	B	0.015	0.17295	B	0.318346	0.14314	N	0.693986	1	0.08975	N	1.19	0.30124	L	-1.0	0.89822	T	-0.84	0.22944	N	0.047	0.12913	-1.0231	0.22704	T	0.093	0.35283	T	10	0.004040092	0.00079	T	.	.	.	0.125	0.34456	.	.	0.829266058896	0.82765	0.13121228922708775	0.13046	0.180147681555	0.20266	0.22074136138	0.01353	T	0.037255	0.49159	T	-0.50788	0.00516	T	-0.489987	0.23393	T	0.00877906586440529	0.00108	T	0.675632	0.49916	T	0.17987497	0.39080	0.11099009	0.26769	0.17987497	0.39079	0.11099009	0.26769	-3.913	0.29557	T	.	.	0.066	0.05579	B	.;.;.;.	.;.;.;.	0.863510	0.12360	8.898	0.93370035639790705	0.23114	0.02386	0.06774	N	AEFDBI	0.052326	0.09328	N	-1.02063380860431	0.08176	0.3824504	-0.973970329652777	0.10372	0.5219682	0.462231983486308	0.20634	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.69	-1.12	0.09306	-0.838000	0.04480	-3.749000	0.02563	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.647000	0.32611	0.5309:0.1675:0.3016:0.0	4.854	0.12910	373	0.84140	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, 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	0.02381	1158.98	35	chr17	8047001	.	G	A	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.680e-01;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=1.35;SOR=0.744	GT:AD:DP:GQ:PL	0/1:71,50:121:99:1173,0,1795	20	0	1	0
chr17	11557948	11557948	A	G	exonic	SHISA6	.	nonsynonymous SNV	SHISA6:NM_001173461:exon4:c.A1147G:p.S383G	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.0	B	0.002	B	0.010	N	0.988	N	-0.41	N	.	.	-1.001	T	0.026	T	0.008	0.403	6.189	-0.772	0.029	0.430	4.584	0.031	0.00254384659513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361587894	8.576e-06	8.209e-06	9.872e-06	7.245e-06	0.0004	4.57e-06	3.61e-06	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	7.415e-06	3.448e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.369	0.11770	T	0.436	0.13480	T	0.0	0.02946	B	0.002	0.06944	B	0.009968	0.30121	N	0.363254	0.987936	0.24465	N	0.255	0.09829	N	.	.	.	-0.8	0.22078	N	0.082	0.06454	-1.0009	0.29660	T	0.026	0.10954	T	9	0.03414184	0.01612	T	0.002544	0.05093	T	0.031	0.07369	0.159	0.06287	0.0138822411134	0.00435	0.23491023061993369	0.23406	.	.	0.350025773048	0.17926	T	0.002243	0.01642	T	-0.321412	0.06783	T	-0.699462	0.05855	T	0.124817088246346	0.14895	T	0.580242	0.20999	T	0.039112005	0.05340	0.027875572	0.00975	0.039112005	0.05340	0.027875572	0.00975	-3.363	0.16600	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	1.120396	0.15063	11.56	0.71918593687072541	0.09793	0.09567	0.15294	N	AEFDBI	0.063142	0.12182	N	-1.0589602566276	0.07412	0.3442806	-0.886220703913584	0.12420	0.6387573	1.24536481625406E-5	0.02871	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.03	-0.772	0.10444	1.086000	0.30464	0.554000	0.19448	-0.274000	0.06627	1.000000	0.71638	0.028000	0.21151	0.931000	0.46843	0.5308:0.1758:0.2934:0.0	4.584	0.11669	657	0.62240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1901.98	35	chr17	11557948	.	A	G	1901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.653e+00;DP=875;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-7.670e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:93,84:177:99:1916,0,2479	20	0	1	0
chr17	17796598	17796598	G	A	exonic	RAI1	.	nonsynonymous SNV	RAI1:NM_030665:exon3:c.G3650A:p.R1217Q,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	0	1516	6	0	0	6	0.00197498	.	.	177420	not_provided|Inborn_genetic_diseases|Smith-Magenis_syndrome|not_specified|RAI1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008434,MedGen:C0795864,OMIM:182290,Orphanet:819|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.076	B	0.005	B	0.013	N	1.000	N	1.7	L	0.3	T	-0.894	T	0.209	T	0.735	1.988	12.60	3.13	1.859	3.395	11.982	0.255	0.0207254952611	0.0006	0.000998403	0.0006	9.929e-05	0.0002	0	0	0.0006	0.0022	0.0017	0.0006209	96	154602	rs142415050	0.0010	0.0010	0.0010	0.0010	0.0015	0.0010	0.0009	0.0013	0.0012	0.0002	0.0002	0	5.038e-05	0	0.0009	0.0012	0.0006	0.0015	0.0007	0.0007	0.0007	0.0007	0.0027	0.0006	0.0005	0.0016	0.0013	0.0004	0	0.0002	0	0	0	0	0.0010	0.0019	0.0027	0.033	0.44358	D	0.309	0.19782	T	0.076	0.24253	B	0.005	0.11217	B	0.013006	0.28981	N	0.145694	1	0.08975	N	1.43	0.35840	L	-0.29	0.67712	T	0.0	0.07008	N	0.728	0.72925	-0.8938	0.48595	T	0.209	0.56893	T	10	0.006658286	0.00151	T	0.020725	0.43381	T	0.255	0.56562	.	.	0.818595399886	0.81688	0.30436663253010837	0.30349	0.325946002528	0.34745	0.427944391966	0.28928	T	0.08663	0.37767	T	-0.196127	0.21366	T	-0.0845779	0.64569	T	0.0152815311965125	0.00338	T	0.814918	0.46941	T	0.06842718	0.14907	0.06661709	0.13670	0.06940466	0.15202	0.05833464	0.10762	-3.998	0.23774	T	0.3619055521118208	0.45826	0.109	0.20896	B	.;.	.;.	3.444504	0.47929	22.5	0.99769756157672662	0.85834	0.70692	0.34696	D	AEFDBI	0.113558	0.22401	N	-0.163016955798903	0.34681	1.982612	-0.0599921909853841	0.37061	2.16494	0.419205164346773	0.20277	0.706548	0.73137	0	0.724815	0.89359	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	4.12	3.13	0.35090	3.484000	0.52965	3.257000	0.37065	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0873:0.0:0.9127:0.0	11.982	0.52417	311	0.87433	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2808.98	43	chr17	17796598	.	G	A	2808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=1060;ExcessHet=0.0000;FS=1.059;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-8.300e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:107,105:212:99:2823,0,2613	20	0	1	0
chr17	18121787	18121787	C	G	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon2:c.C2987G:p.P996R,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1434257	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.799	P	0.327	B	.	.	1.000	N	0.895	L	-2.34	D	-0.524	T	0.443	T	0.336	0.737	7.914	2.69	0.409	0.620	7.179	0.218	0.272853975183	8.3e-05	.	3.44e-05	0	8.705e-05	0	0	3.135e-05	0	6.271e-05	2.59e-05	4	154602	rs201087528	3.563e-05	3.557e-05	3.953e-05	3.168e-05	0.0003	2.767e-05	2.505e-05	6.094e-05	2.522e-05	0	4.48e-05	0	0	0	0.0003	3.599e-05	3.315e-05	6.961e-05	6.573e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.799	0.44910	P	0.327	0.41976	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-2.34	0.87989	D	-2.27	0.50666	N	0.347	0.38848	-0.5238	0.67774	T	0.443	0.78051	T	9	0.15173563	0.28675	T	0.272854	0.89945	D	0.218	0.51265	.	.	0.715252854683	0.71275	0.3394435367343584	0.33857	.	.	0.392243206501	0.23985	T	0.03048	0.55146	T	-0.0578667	0.43240	T	-0.13937	0.60172	T	0.188617140054703	0.19763	T	0.630337	0.24523	T	0.15417883	0.34911	0.36328274	0.61718	0.15417883	0.34911	0.36328274	0.61718	-4.526	0.31227	T	0.14182003837479087	0.15988	0.116	0.23535	B	.;.;.	.;.;.	1.291129	0.16923	12.85	0.95364529873087744	0.26768	0.18920	0.20456	N	AEFDBI	0.065194	0.12704	N	-0.514366434327016	0.21614	1.148402	-0.624415824731122	0.18866	1.009765	2.8081055354437E-4	0.06300	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.7	2.69	0.30923	0.206000	0.17174	0.115000	0.14837	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.0:0.789:0.0:0.211	7.179	0.24938	248	0.90287	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1297.98	36	chr17	18121787	.	C	G	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.340;DP=815;ExcessHet=0.0000;FS=2.725;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-1.111e+00;SOR=1.060	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1312,0,1082	20	0	1	0
chr17	18178850	18178850	A	G	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon65:c.A10573G:p.S3525G,	Deafness, autosomal recessive 3, Autosomal recessive	YES	0	1511	11	0	0	11	0.00362677	.	.	230759	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified	MedGen:C3661900|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	.	.	1.000	D	2.14	M	-2.8	D	0.539	D	0.709	D	0.491	4.171	21.6	5.6	2.132	9.070	15.459	0.500	.	0.0002	0.0125799	0.0064	0.0005	0.0138	0.0006	0	6.042e-05	0.0068	0.0358	0.0058214	900	154602	rs182332665	0.0028	0.0028	0.0018	0.0038	0.0366	0.0027	0.0027	0.0356	0.0351	0.0005	0.0125	0	0.0002	0	0.0012	4.496e-05	0.0037	0.0366	0.0028	0.0028	0.0021	0.0036	0.0387	0.0026	0.0025	0.0342	0.0324	0.0008	0	0.0120	0	0.0012	9.436e-05	0	4.413e-05	0.0062	0.0387	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	1	0.81001	D	2.77	0.80896	M	-2.8	0.91076	D	-1.7	0.40468	N	0.407	0.44761	0.539	0.91090	D	0.709	0.90006	D	9	0.008612871	0.00195	T	.	.	.	0.500	0.78350	.	.	0.935787677643	0.93512	0.46874749108965874	0.46793	.	.	0.721662759781	0.70288	T	0.030362	0.49389	T	-0.164003	0.26145	T	0.0188048	0.71553	D	0.0351016106589374	0.02826	T	0.822818	0.48291	T	0.37915948	0.59256	0.50394154	0.71326	0.3924253	0.60205	0.45464295	0.68291	-3.942	0.22933	T	0.6270703916275335	0.69605	0.265	0.49903	B	.;.;.	.;.;.	3.901542	0.56841	23.8	0.99626242462518366	0.75716	0.99061	0.90654	D	AEFI	0.927590	0.91048	D	0.773262619416709	0.84410	8.279811	0.749083215684274	0.86089	8.778858	0.99999999967714	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	9.083000	0.93460	11.223000	0.89837	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	1.0:0.0:0.0:0.0	15.459	0.75067	140	0.94439	FERM domain;FERM domain;FERM 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	0.02381	831.98	34	chr17	18178850	.	A	G	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.980e-01;DP=745;ExcessHet=0.0000;FS=1.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=2.04;SOR=0.970	GT:AD:DP:GQ:PL	0/1:21,32:53:99:846,0,531	20	0	1	0
chr17	18727721	18727721	C	G	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon2:c.C164G:p.T55R	.	.	420	1086	16	0	0	16	0.00731261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.002	N	0.999	N	-1.935	N	-0.19	T	-0.965	T	0.042	T	0.391	-2.598	0	-0.19	-0.093	0.883	5.229	0.177	0.00172076807055	.	.	0.0016	0.0015	0.0006	0.0016	0	0.0011	0.0022	0.0045	0.0001552	24	154602	rs141461321	0.0013	0.0063	0.0012	0.0014	0.0039	0.0012	0.0012	0.0035	0.0034	0.0013	0.0015	0.0015	0.0013	0.0008	0.0025	0.0011	0.0016	0.0039	0.0019	0.0058	0.0019	0.0019	0.0061	0.0017	0.0016	0.0044	0.0038	0.0018	0	0.0014	0.0012	0.0017	0.0007	0.0035	0.0020	0.0019	0.0061	0.825	0.02921	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002110	0.37227	N	0.217758	0.998546	0.22085	N	-1.78	0.00307	N	-0.2	0.66113	T	2.48	0.00239	N	0.201	0.22228	-0.9648	0.38250	T	0.042	0.18202	T	10	0.0036156476	0.00066	T	0.001721	0.02882	T	0.177	0.44549	.	.	0.202086224978	0.19791	0.1393852053865787	0.13861	.	.	0.456749379635	0.32865	T	0.003461	0.02869	T	-0.436533	0.01355	T	-0.3961	0.33837	T	0.000294664280465911	0.00002	T	0.211279	0.02560	T	0.04591656	0.07598	0.050596133	0.07975	0.04591656	0.07597	0.050596133	0.07974	-2.14	0.03759	T	.	.	0.056	0.00452	B	.	.	0.625809	0.09942	6.700	0.099271237724245051	0.00113	0.09050	0.14882	N	AEFDBHI	0.027810	0.02338	N	-1.43114065351808	0.02369	0.1045401	-1.2835337126089	0.04653	0.2199606	0.0820785034427064	0.15891	0.706298	0.61202	0	0.633656	0.55848	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	3.25	-0.19	0.12605	0.931000	0.28471	2.231000	0.31532	-1.077000	0.01579	0.778000	0.29449	1.000000	0.68203	0.082000	0.17360	0.2155:0.1701:0.6144:0.0	5.229	0.14734	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	310.11	235	chr17	18727721	.	C	G	310.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=7.21;DP=1670;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.97;MQRankSum=-7.635e+00;QD=0.60;ReadPosRankSum=-9.970e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:198,24:222:99:231,0,5253	19	0	2	0
chr17	18971694	18971694	C	T	exonic	FAM83G	.	nonsynonymous SNV	FAM83G:NM_001039999:exon6:c.G2137A:p.G713S,	.	.	416	1101	3	2	0	7	0.00316885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.127	B	0.005	B	0.125	N	1.000	N	0.14	N	2.86	T	-1.000	T	0.016	T	0.277	-0.072	3.646	1.33	0.741	0.329	6.638	0.030	.	8.1e-05	0.0061901	0.0037	0.0001	0.0003	0	0.0039	0.0002	0.0046	0.0270	0.0030853	477	154602	rs202158023	0.0017	0.0017	0.0011	0.0024	0.0242	0.0017	0.0016	0.0233	0.0230	3.007e-05	9.08e-05	0	5.062e-05	0.0044	0.0016	5.152e-05	0.0018	0.0242	0.0013	0.0013	0.0006	0.0021	0.0261	0.0012	0.0011	0.0224	0.0210	7.221e-05	0	0.0001	0	0	0.0060	0	0.0001	0	0.0261	0.04	0.42199	D	0.237	0.24621	T	0.127	0.26966	B	0.005	0.11217	B	0.125212	0.02761	N	1.727610	1	0.08975	N	1.175	0.29870	L	2.86	0.10482	T	0.17	0.05125	N	0.033	0.04547	-1.0004	0.29803	T	0.016	0.06711	T	10	0.0021157265	0.00030	T	.	.	.	0.030	0.07022	.	.	0.0666544352282	0.05500	0.1645188718669416	0.16371	0.181728394635	0.20427	0.342059642076	0.16747	T	0.00427	0.03680	T	-0.595044	0.00156	T	-0.609263	0.12045	T	0.00671639656936439	0.00075	T	0.442956	0.12306	T	0.02617373	0.01642	0.049418524	0.07546	0.02617373	0.01642	0.049418524	0.07546	-3.392	0.14949	T	.	.	0.078	0.07036	B	.;.	.;.	0.943581	0.13196	9.695	0.69302167573058282	0.08929	0.02064	0.06155	N	AEFDBI	0.081102	0.16408	N	-0.906382924540523	0.10691	0.5121714	-0.89445900100411	0.12225	0.6275757	0.492303820420955	0.20874	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.85	1.33	0.20958	-1.051000	0.03618	0.023000	0.13619	-0.179000	0.10443	0.000000	0.06391	0.009000	0.19889	0.364000	0.25977	0.0:0.6318:0.0:0.3682	6.638	0.22089	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	0.02381	959.98	43	chr17	18971694	.	C	T	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.89;ReadPosRankSum=1.61;SOR=0.767	GT:AD:DP:GQ:PL	0/1:66,42:108:99:974,0,1578	20	0	1	0
chr17	19571562	19571562	C	T	exonic	SLC47A1	.	nonsynonymous SNV	SLC47A1:NM_018242:exon15:c.C1394T:p.A465V,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.729	P	0.413	B	0.001	D	1.000	D	1.335	L	1.48	T	-1.124	T	0.049	T	0.343	2.507	14.34	5.4	2.539	2.731	10.160	0.064	0.00417861372841	0.0065	0.00219649	0.0064	0.0018	0.0050	0	0.0059	0.0097	0.0033	0.0007	0.0065652	1015	154602	rs111653425	0.0095	0.0095	0.0100	0.0090	0.0113	0.0094	0.0093	0.0112	0.0111	0.0018	0.0059	0.0006	2.52e-05	0.0058	0.0009	0.0113	0.0098	0.0006	0.0059	0.0059	0.0062	0.0055	0.0096	0.0056	0.0054	0.0089	0.0087	0.0018	0.0219	0.0053	0.0003	0	0.0055	0	0.0096	0.0043	0.0004	0.438	0.09319	T	0.613	0.09144	T	0.1	0.42602	B	0.109	0.44885	B	0.000979	0.40836	D	0.273024	0.996431	0.81001	D	2.01	0.54746	M	1.48	0.31987	T	-2.66	0.56945	D	0.349	0.39659	-1.1237	0.02110	T	0.049	0.20711	T	10	0.007446736	0.00169	T	0.004179	0.10058	T	0.064	0.18567	.	.	0.549036597592	0.54559	0.27514524103482935	0.27427	0.41328724842	0.42041	0.358246982098	0.19130	T	0.503767	0.82312	D	-0.465065	0.00913	T	-0.430422	0.29889	T	0.021597868196475	0.00864	T	0.774523	0.40643	T	0.10909512	0.25793	0.13944328	0.33271	0.10909512	0.25793	0.13944328	0.33270	-5.642	0.43174	T	.	.	0.149	0.38552	B	.;.	.;.	3.110170	0.41948	21.4	0.99574040687578769	0.72561	0.79563	0.39450	D	AEFBI	0.728212	0.67631	D	0.0414721990685121	0.43750	2.661945	0.158228097817245	0.47579	2.986088	0.296472581643907	0.19143	0.615465	0.37627	0	0.610034	0.51514	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	3.009000	0.49239	4.712000	0.44461	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.9096:0.0:0.0904	10.160	0.42024	613	0.66686	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1062.98	33	chr17	19571562	.	C	T	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.390;SOR=0.751	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1077,0,872	20	0	1	0
chr17	20580343	20580343	G	A	exonic	CDRT15L2	.	nonsynonymous SNV	CDRT15L2:NM_001190790:exon2:c.G460A:p.A154T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	0.345	N	0.61	T	-1.002	T	0.076	T	0.129	1.584	11.25	0.118	0.191	0.793	.	0.025	0.00579380873963	.	0.000798722	0.0006	0	0	0	0	0	0	0.0091	0.0001537	4	26028	rs534598169	0.0002	0.0003	0.0001	0.0004	0.0045	0.0002	0.0002	0.0040	0.0039	0	3.557e-05	0	0	0	0	9.616e-07	0.0005	0.0045	0.0001	0.0001	3.866e-05	0.0002	0.0040	8.189e-05	6.742e-05	0.0026	0.0022	0	0	0	0	0	0	0	0	0	0.0040	0.037	0.43085	D	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	0.61	0.53516	T	-0.53	0.16393	N	0.095	0.07535	-1.0020	0.29342	T	0.076	0.30522	T	6	0.0065436065	0.00148	T	0.005794	0.15042	T	0.025	0.05312	0.172	0.07774	0.128392430309	0.12331	0.027921612407459682	0.02742	0.366516443346	0.38224	0.494933694601	0.38123	T	0.021651	0.16823	T	-0.56804	0.00227	T	-0.588871	0.13764	T	0.0373406756547776	0.03216	T	0.340966	0.07383	T	0.082654975	0.19050	0.13481048	0.32295	0.082654975	0.19050	0.13481048	0.32294	-4.255	0.27541	T	.	.	0.162	0.35767	B	.	.	0.980337	0.13579	10.11	0.98430521885979994	0.41386	0.00715	0.03020	N	AEFI	0.025842	0.01838	N	-0.816031084375537	0.12900	0.6318994	-1.01216250135827	0.09517	0.4739522	1.11536234223363E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.118	0.118	0.13972	1.140000	0.31128	0.861000	0.22228	0.254000	0.18348	0.102000	0.22834	0.002000	0.18203	0.009000	0.08673	.	.	.	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	543.98	45	chr17	20580343	.	G	A	543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.420e+00;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.85;MQRankSum=-2.570e-01;QD=16.48;ReadPosRankSum=-1.874e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:16,17:33:99:558,0,520	20	0	1	0
chr17	28524741	28524741	C	T	exonic	FOXN1	.	nonsynonymous SNV	FOXN1:NM_003593:exon2:c.C362T:p.A121V	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	727081	T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy|FOXN1-related_disorder	MONDO:MONDO:0011132,MedGen:C1866426,OMIM:601705,Orphanet:169095|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.0	B	0.893	N	1.000	N	0	N	-2.93	D	-0.642	T	0.426	T	0.1	0.864	8.500	-2.7	-0.350	-0.162	3.613	0.207	0.0240139439974	.	0.000599042	0.0005	0	9.289e-05	0	0	0	0.0013	0.0032	0.0003622	56	154602	rs557541901	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0007	7.197e-06	0.0002	0.0030	8.532e-05	8.529e-05	6.423e-05	0.0001	0.0027	4.952e-05	3.958e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.79	0.03201	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.892947	0.07307	N	1.051680	0.999996	0.08975	N	-0.895	0.01383	N	-2.93	0.91800	D	-0.31	0.12099	N	0.04	0.01421	-0.6425	0.63039	T	0.426	0.76930	T	10	0.0043040216	0.00087	T	0.024014	0.47001	T	0.207	0.49555	0.302	0.27003	0.220282294035	0.21616	0.07891657928715783	0.07826	0.142915156258	0.16124	0.293551087379	0.09442	T	0.19183	0.54680	T	-0.420646	0.01694	T	-0.380997	0.35606	T	0.0218604686198882	0.00893	T	0.149985	0.01257	T	0.033854887	0.03686	0.049713943	0.07653	0.03463723	0.03924	0.06498895	0.13105	-4.547	0.31498	T	0.09217786766913112	0.05928	0.059	0.01290	B	.;.	.;.	1.066292	0.14482	11.05	0.84350167853480496	0.15240	0.04033	0.09471	N	AEFGBCI	0.023063	0.01235	N	-1.12426662951459	0.06214	0.2854425	-1.02487346746542	0.09239	0.4585508	0.99996456375352	0.48965	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.49	-2.7	0.05651	0.050000	0.14004	0.581000	0.19707	-0.114000	0.14653	0.405000	0.26210	0.773000	0.26716	0.960000	0.51673	0.1314:0.4546:0.148:0.266	3.613	0.07611	152	0.94023	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1833.98	35	chr17	28524741	.	C	T	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.154e+00;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=0.515;SOR=0.745	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1848,0,1288	20	0	1	0
chr17	32772809	32772809	T	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon5:c.A598G:p.S200G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.367	B	0.186	B	0.000	U	1.000	D	1.245	L	-0.67	T	-0.563	T	0.262	T	0.69	3.727	18.93	5.49	2.070	7.272	13.537	0.466	0.032246938522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.012	0.79402	D	0.238	0.30817	B	0.186	0.36104	B	0.000235	0.47286	U	0.000000	0.999956	0.52396	D	0.88	0.21560	L	-0.67	0.95458	T	-1.36	0.33798	N	0.868	0.86833	-0.5632	0.66282	T	0.262	0.63285	T	10	0.94663495	0.93990	D	0.032247	0.54125	D	0.466	0.76156	0.891	0.97367	0.918392079262	0.91757	0.6648944906029628	0.66426	0.298669409922	0.32248	0.602323949337	0.53232	T	0.463674	0.79953	T	0.292466	0.82359	D	0.18233	0.82130	D	0.773878216743469	0.44673	D	0.892511	0.80045	D	0.2297747	0.45720	0.18961799	0.42318	0.2297747	0.45720	0.18961799	0.42317	-7.313	0.56288	T	.	.	0.142	0.40666	B	.;.;.;.	.;.;.;.	4.253572	0.64587	24.7	0.99747483139176962	0.84002	0.96942	0.71786	D	ALL	0.878137	0.80321	D	0.232848962952929	0.52795	3.45168	0.377921116790731	0.60204	4.20566	0.999999998871527	0.74766	0.722319	0.85440	0	0.623229	0.53319	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.49	5.49	0.81022	7.209000	0.77424	7.870000	0.71911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.537	0.61111	940	0.13648	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	73.11	44	chr17	32772809	.	T	C	73.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.023e+00;DP=1046;ExcessHet=0.1072;FS=181.922;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.53;ReadPosRankSum=0.288;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,15:66:45:.:.:45,0,1050	19	0	2	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:44,51:95:99:427,0,540	0	0	21	0
chr17	39408157	39408157	C	T	exonic	MED1	.	nonsynonymous SNV	MED1:NM_004774:exon17:c.G4064A:p.R1355H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.994	D	.	.	1.000	D	0.695	N	0.72	T	-0.751	T	0.198	T	0.498	3.895	19.80	4.8	2.644	5.840	18.411	0.288	0.0214729107975	.	.	8.293e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs771798336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.04	0.50809	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999998	0.81001	D	1.1	0.28011	L	0.72	0.50976	T	-1.22	0.30964	N	0.363	0.40465	-0.7515	0.57857	T	0.198	0.55386	T	9	0.40662366	0.55937	T	0.021473	0.44242	T	0.288	0.60691	0.456	0.52102	0.476941883315	0.47324	0.3368050891573953	0.33593	0.338321825174	0.35807	0.76421546936	0.76558	T	0.22461	0.58909	T	0.00295278	0.52061	T	-0.233535	0.51430	T	0.800860567146188	0.46411	D	0.940639	0.77718	D	0.22247145	0.44847	0.2186069	0.46570	0.22247145	0.44848	0.2186069	0.46569	-3.812	0.20984	T	.	.	0.655	0.71115	P	.	.	5.142451	0.86097	28.8	0.99915191313331964	0.98379	0.96145	0.67738	D	AEFBCI	0.724487	0.67377	D	0.573669516961758	0.71533	5.665624	0.594045334731434	0.74510	6.149592	0.999999999962768	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	7.631000	0.82408	7.725000	0.67498	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.411	0.90494	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1220.98	34	chr17	39408157	.	C	T	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.905;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=-6.800e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/1:93,53:146:99:1235,0,2374	20	0	1	0
chr17	40818881	40818881	-	GCTGCCGCCGCCGGA	exonic	KRT10	.	nonframeshift insertion	KRT10:NM_000421:exon7:c.1653_1654insTCCGGCGGCGGCAGC:p.S552_S553insGGGSS	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	797527	not_provided|KRT10-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0003	0.0003	0	0.0036	0.0020	0.0016	0.0002	0.0003842	10	26028	rs752563839	0.0030	0.0033	0.0031	0.0030	0.0056	0.0030	0.0029	0.0041	0.0035	0.0002	0.0008	0.0068	2.902e-05	0.0108	0.0056	0.0031	0.0028	0.0003	0.0033	0.0035	0.0030	0.0035	0.0044	0.0030	0.0029	0.0040	0.0039	0.0004	0	0.0009	0.0088	0.0004	0.0114	0	0.0044	0.0044	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	777.94	35	chr17	40818881	.	T	TGCTGCCGCCGCCGGA	777.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.856;DP=1142;ExcessHet=0.0000;FS=2.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-3.220e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/1:38,22:60:99:792,0,1502	20	0	1	0
chr17	42796301	42796301	C	T	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_001321299:exon16:c.C2602T:p.R868C	Pseudohypoaldosteronism, type IIB, Autosomal dominant	.	0	1513	9	0	0	9	0.0029654	.	.	345994	Pseudohypoaldosteronism_type_2B|not_provided	MONDO:MONDO:0013777,MedGen:C1840390,OMIM:614491,Orphanet:757,Orphanet:88939|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.997	D	0.000	D	1.000	D	1.59	L	-0.75	T	-0.238	T	0.390	T	0.762	2.536	14.44	3.86	2.542	2.344	12.678	0.425	.	0.0021	0.00359425	0.0064	0.0005	0.0012	0	0.0311	0.0069	0.0125	0.0053	0.005097	788	154602	rs56116165	0.0045	0.0045	0.0044	0.0045	0.0052	0.0044	0.0043	0.0048	0.0046	0.0005	0.0009	0.0028	5.046e-05	0.0241	0.0043	0.0039	0.0046	0.0052	0.0046	0.0046	0.0036	0.0057	0.0058	0.0043	0.0042	0.0042	0.0041	0.0007	0	0.0008	0.0017	0	0.0289	0	0.0047	0.0014	0.0058	0.001	0.78490	D	0.014	0.62352	D	1.0	0.90584	D	0.997	0.86255	D	0.000402	0.44736	D	0.000000	0.999932	0.51612	D	1.81	0.47622	L	-0.75	0.73311	T	-3.88	0.72710	D	0.767	0.76481	-0.2379	0.76681	T	0.390	0.74438	T	10	0.008295596	0.00188	T	.	.	.	0.425	0.73299	.	.	0.876928265504	0.87572	0.4720821057718454	0.47127	0.816322739152	0.66953	0.694145798683	0.66301	T	0.446394	0.78906	T	-0.157439	0.27156	T	0.00368485	0.70574	D	0.0113649985033886	0.00169	T	0.960904	0.85339	D	0.37872845	0.59225	0.36245513	0.61651	0.4254318	0.62452	0.3611353	0.61542	-4.686	0.33234	T	.	.	0.377	0.58233	A	.	.	4.778539	0.77428	26.7	0.99700702097194427	0.80591	0.92663	0.56244	D	AEFDBCI	0.660063	0.63076	D	0.535797730724398	0.69222	5.32643	0.510282439447533	0.68679	5.253657	0.999992087269126	0.74766	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	4.88	3.86	0.43689	2.649000	0.46321	6.021000	0.52793	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2902:0.7098:0.0:0.0	12.678	0.56269	240	0.90628	.	.	.	.	.	rs56116165	Likely benign	0	0	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	0.02381	1417.98	35	chr17	42796301	.	C	T	1417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=0.056;SOR=0.618	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1432,0,964	20	0	1	0
chr17	42818246	42818246	C	T	exonic	BECN1	.	nonsynonymous SNV	BECN1:NM_001314000:exon5:c.G430A:p.E144K	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.412	B	0.125	B	0.000	D	1.000	D	0.85	L	0.95	T	-1.078	T	0.061	T	0.354	2.985	15.95	5.82	2.745	4.189	20.109	0.147	.	0.0021	0.00299521	0.0049	0.0002	0.0006	0	0.0251	0.0053	0.0110	0.0036	0.0044889	694	154602	rs138937709	0.0038	0.0038	0.0038	0.0037	0.0042	0.0037	0.0036	0.0034	0.0033	0.0004	0.0005	0.0003	0	0.0224	0.0042	0.0033	0.0037	0.0038	0.0039	0.0039	0.0028	0.0050	0.0046	0.0036	0.0035	0.0033	0.0032	0.0006	0	0.0005	0	0	0.0264	0	0.0037	0.0014	0.0046	0.222	0.21634	T	0.653	0.55341	T	0.183	0.35138	B	0.125	0.32635	B	0.000003	0.62929	D	0.103982	0.999949	0.51968	D	1.24	0.30952	L	0.95	0.43279	T	-1.24	0.36385	N	0.461	0.51940	-1.0782	0.07701	T	0.061	0.25383	T	10	0.0062277615	0.00140	T	.	.	.	0.147	0.38986	.	.	0.245697971988	0.24196	0.5464467522433635	0.54570	0.573564138747	0.53406	0.512876868248	0.40625	T	0.186712	0.58301	T	-0.446241	0.01188	T	-0.41323	0.31852	T	0.0138249494743303	0.00262	T	0.950005	0.80823	D	0.31805155	0.54474	0.4295087	0.66630	0.31805155	0.54474	0.4295087	0.66630	-5.328	0.40219	T	.	.	0.061	0.24867	B	.;.;.;.;.	.;.;.;.;.	3.377051	0.46690	22.3	0.99838484034008446	0.91886	0.96896	0.71531	D	AEFDBIJ	0.564071	0.57100	D	0.0298630236210769	0.43216	2.618965	0.227048003608571	0.51353	3.318626	0.999999997116105	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.82	5.82	0.92740	4.264000	0.58657	7.685000	0.65502	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.109	0.97905	242	0.90534	.;.;.;.;.	.	.	.	.	rs138937709	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1781.98	35	chr17	42818246	.	C	T	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.823;DP=801;ExcessHet=0.0000;FS=2.480;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.336;SOR=0.961	GT:AD:DP:GQ:PL	0/1:50,67:117:99:1796,0,1192	20	0	1	0
chr17	44666887	44666887	T	G	exonic	MEIOC	.	nonsynonymous SNV	MEIOC:NM_001145080:exon5:c.T976G:p.C326G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.002	B	0.003	B	0.000	D	0.791	N	0.69	N	1.46	T	-1.038	T	0.041	T	0.425	-1.504	0.017	5.63	2.269	1.107	6.325	0.123	0.00871899585484	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254837875	2.745e-06	2.736e-06	1.365e-06	4.14e-06	3.605e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.605e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.502	0.07695	T	0.459	0.92824	T	0.002	0.09854	B	0.003	0.08700	B	0.000094	0.51296	D	0.138961	0.790911	0.29227	N	.	.	.	1.44	0.32958	T	-0.67	0.64363	N	0.239	0.26957	-1.0382	0.17863	T	0.041	0.17742	T	10	0.15845457	0.29796	T	0.008719	0.23025	T	0.123	0.34020	0.586	0.71371	0.043077524339	0.03247	0.107262862855397	0.10655	0.0539382263776	0.05956	.	.	.	0.001237	0.22682	T	-0.145455	0.29025	T	-0.446712	0.28060	T	0.516781806945801	0.33246	D	0.580842	0.21027	T	0.118249044	0.27864	0.16289495	0.37815	0.118249044	0.27864	0.16289495	0.37814	-2.222	0.04404	T	.	.	0.091	0.25396	B	.;.;.	.;.;.	2.138624	0.27230	17.39	0.53195201205151255	0.04892	0.70487	0.34611	D	AEBI	0.179390	0.30668	N	-0.257421756178095	0.30808	1.72133	-0.0317061680279289	0.38291	2.25387	6.73398637039205E-4	0.07599	0.549168	0.22868	0	0.588015	0.36545	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.63	5.63	0.86108	1.096000	0.30587	7.941000	0.75483	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2319:0.0:0.2002:0.5678	6.325	0.20447	519	0.74455	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1388.98	37	chr17	44666887	.	T	G	1388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=1.00;SOR=0.645	GT:AD:DP:GQ:PL	0/1:94,57:151:99:1403,0,2512	20	0	1	0
chr17	48610686	48610686	T	C	exonic	HOXB7	.	nonsynonymous SNV	HOXB7:NM_004502:exon1:c.A233G:p.Y78C,	.	.	426	1086	10	0	0	10	0.00458295	.	.	2811459	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.894	P	0.000	D	0.999	D	3.21	M	1.13	T	-0.451	T	0.265	T	0.678	3.633	18.48	4.27	1.795	3.644	8.782	0.302	0.0653817814226	0.0013	0.000998403	0.0047	0.0030	0.0006	0	0.0012	0.0081	0.0037	0.0020	0.0013713	212	154602	rs35657716	0.0031	0.0031	0.0032	0.0031	0.0038	0.0031	0.0030	0.0037	0.0036	0.0004	0.0010	0.0002	0.0001	0.0002	0.0020	0.0038	0.0027	0.0016	0.0019	0.0019	0.0020	0.0018	0.0033	0.0017	0.0016	0.0030	0.0028	0.0008	0	0.0010	0	0	9.42e-05	0.0034	0.0033	0.0014	0.0008	0.002	0.72154	D	0.006	0.70582	D	0.999	0.77913	D	0.894	0.63417	P	0.000000	0.84330	D	0.000000	0.999302	0.46608	D	2.24	0.63355	M	1.13	0.38556	T	-4.28	0.76334	D	0.59	0.61002	-0.4508	0.70374	T	0.265	0.63674	T	10	0.012849569	0.00275	T	0.065382	0.69562	D	0.302	0.62290	.	.	0.699295303354	0.69669	0.6690358537971135	0.66841	1.65912826013	0.89650	0.813147723675	0.83975	D	0.642447	0.89052	D	-0.25629	0.13338	T	-0.142392	0.59910	T	0.0333295063553578	0.02526	T	0.885811	0.61165	D	0.42727134	0.62573	0.43234405	0.66823	0.42727134	0.62574	0.43234405	0.66823	-4.735	0.33824	T	.	.	0.109	0.20896	B	.	.	5.039181	0.83867	28.2	0.99452612609294111	0.65376	0.98722	0.86019	D	AEFDGBHCI	0.780208	0.71217	D	0.65692249830907	0.76820	6.55704	0.561607875841364	0.72209	5.773836	0.99999999351538	0.74766	0.437478	0.07067	0	0.484254	0.07192	0	0.606814	0.37721	0	0.372554	0.06265	0	.	.	4.27	4.27	0.50009	3.862000	0.55721	7.815000	0.69558	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1683:0.0:0.0:0.8316	8.782	0.33955	656	0.62345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	862.98	41	chr17	48610686	.	T	C	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=751;ExcessHet=0.0000;FS=1.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=-5.440e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/1:25,31:56:99:877,0,595	20	0	1	0
chr17	56372823	56372823	C	G	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon6:c.C788G:p.T263R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.779	P	0.216	B	0.000	D	0.992	D	1.7	L	1.95	T	-1.124	T	0.058	T	0.626	3.090	16.32	5.78	2.724	4.067	20.014	0.116	0.0130831435404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.17526	T	0.038	0.51421	D	0.779	0.44223	P	0.216	0.37572	B	0.000124	0.49741	D	0.216583	0.991505	0.41404	D	1.7	0.43825	L	1.95	0.30133	T	-2.18	0.49187	N	0.372	0.45803	-1.1238	0.02104	T	0.058	0.24428	T	10	0.26595885	0.44097	T	0.013083	0.32199	T	0.116	0.32463	0.355	0.35571	0.761891265402	0.75971	0.4513867748438344	0.45056	0.206266061419	0.23047	0.629049420357	0.57010	T	0.030666	0.21682	T	-0.0599462	0.42916	T	-0.323885	0.42148	T	0.802154362201691	0.46500	D	0.952605	0.81930	D	0.24856552	0.47844	0.3637386	0.61755	0.24856552	0.47844	0.3637386	0.61755	-10.284	0.75595	D	.	.	0.216	0.52010	B	.;.;.	.;.;.	3.816919	0.55095	23.6	0.98763413645764364	0.45847	0.97467	0.74937	D	AEFI	0.647160	0.62244	D	0.370411077617872	0.59824	4.165253	0.467849939340732	0.65869	4.878883	0.991245210461837	0.32422	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.78	5.78	0.91418	5.008000	0.63746	5.919000	0.51137	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.014	0.97470	377	0.83897	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1368.98	39	chr17	56372823	.	C	G	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-6.610e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1383,0,1582	20	0	1	0
chr17	57979244	57979258	TGCTGCTGCTGCTGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1046del:p.Q350_Q354del	.	.	.	.	.	.	.	.	.	.	.	2808061	VEZF1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1173190330	0.0032	0.0032	0.0032	0.0031	0.0036	0.0031	0.0031	0.0035	0.0034	0.0009	0.0013	0.0033	0.0004	0.0011	0.0014	0.0036	0.0023	0.0032	0.0022	0.0022	0.0024	0.0020	0.0042	0.0020	0.0019	0.0028	0.0027	0.0010	0.0022	0.0008	0.0041	0.0008	0.0017	0.0034	0.0032	0.0014	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/3:72,0,0,41:113:99:1249,1467,4082,1467,4082,4082,0,2615,2615,2493	15	1	1	0
chr17	57979256	57979258	TGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1034del:p.Q354del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/3:72,0,0,41:113:99:1249,1467,4082,1467,4082,4082,0,2615,2615,2493	15	1	1	0
chr17	57979258	57979258	-	TGC	exonic	VEZF1	.	nonframeshift insertion	VEZF1:NM_007146:exon5:c.1031_1032insGCA:p.Q354_H355insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/3:72,0,0,41:113:99:1249,1467,4082,1467,4082,4082,0,2615,2615,2493	15	1	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.639	25.4	5.44	2.535	7.487	19.245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	576.98	48	chr17	61968034	.	C	G	576.98	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-9.620e-01;DP=1240;ExcessHet=7.7275;FS=188.533;InbreedingCoeff=-0.4183;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.939;SOR=11.843	GT:AD:DP:GQ:PL	0/1:37,21:62:49:49,0,319	8	0	11	2
chr17	63817805	63817805	A	G	exonic	DDX42	.	nonsynonymous SNV	DDX42:NM_203499:exon18:c.A2224G:p.T742A	.	.	433	1083	5	1	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.034	B	0.023	B	0.614	N	1.000	D	0.55	N	3.34	T	-1.002	T	0.011	T	0.265	2.470	14.22	4.08	0.950	4.376	10.653	0.088	0.00525768882391	0.0056	0.00199681	0.0037	0.0013	0.0008	0	0.0008	0.0063	0.0033	0.0001	0.0039844	616	154602	rs112345375	0.0066	0.0066	0.0068	0.0063	0.0078	0.0065	0.0064	0.0077	0.0076	0.0010	0.0020	0.0138	0	0.0008	0.0059	0.0078	0.0056	0.0002	0.0042	0.0042	0.0046	0.0039	0.0069	0.0040	0.0039	0.0064	0.0062	0.0016	0.0044	0.0029	0.0130	0	0.0002	0.0034	0.0069	0.0047	0.0004	0.12	0.27904	T	0.236	0.24694	T	0.034	0.20480	B	0.023	0.19966	B	0.614084	0.05718	N	1.193970	0.99963	0.48481	D	0.805	0.20218	L	3.34	0.06063	T	-0.14	0.09135	N	0.106	0.28965	-1.0015	0.29488	T	0.011	0.04042	T	10	0.0053133667	0.00116	T	0.005258	0.13433	T	0.088	0.25558	.	.	0.434676477133	0.43086	0.3568591443235534	0.35599	0.232246749357	0.25770	0.364786446095	0.20080	T	0.020897	0.16371	T	-0.526497	0.00403	T	-0.521091	0.20184	T	0.0204034242757217	0.00740	T	0.69713	0.32612	T	0.04619807	0.07691	0.058380798	0.10776	0.04619807	0.07691	0.058380798	0.10776	-3.006	0.10245	T	.	.	0.070	0.04477	B	.;.;.;.;.	.;.;.;.;.	2.725894	0.35667	19.96	0.99059119034031617	0.51436	0.97535	0.75383	D	AEFDGBCI	0.596049	0.59037	D	-0.337681526235862	0.27727	1.523622	-0.141534712431691	0.33735	1.932896	0.999999989322734	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	4.08	0.46880	4.556000	0.60483	4.075000	0.41695	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.8564:0.0:0.0:0.1436	10.653	0.44852	856	0.34373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1623.98	34	chr17	63817805	.	A	G	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=808;ExcessHet=0.0000;FS=2.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=-1.785e+00;SOR=1.006	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1638,0,1317	20	0	1	0
chr17	68271583	68271583	T	C	exonic	SLC16A6	.	nonsynonymous SNV	SLC16A6:NM_004694:exon5:c.A577G:p.I193V	.	.	433	1082	7	0	0	7	0.00322432	.	.	2331855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.011	B	0.03	B	0.001	N	1.000	D	1.3	L	0.48	T	-1.073	T	0.100	T	0.204	1.015	9.147	2.02	0.183	3.157	6.544	0.068	0.00782871296653	0.0003	0.000399361	0.0004	0.0002	0.0003	0	0	0.0005	0.0033	0.0002	0.0003752	58	154602	rs144470811	0.0003	0.0003	0.0003	0.0004	0.0097	0.0003	0.0003	0.0077	0.0069	0.0004	0.0006	0.0037	0	1.872e-05	0.0097	0.0002	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0011	0.0003	0.0003	0.0007	0.0006	0.0002	0	0.0011	0.0026	0	0	0.0102	0.0003	0.0009	0.0002	0.443	0.09182	T	0.44	0.13912	T	0.011	0.15914	B	0.03	0.21741	B	0.001449	0.38980	N	0.249425	1	0.81001	D	1.64	0.41913	L	0.48	0.55945	T	-0.39	0.13611	N	0.162	0.23380	-1.0731	0.08745	T	0.100	0.37137	T	10	0.013323337	0.00283	T	0.007829	0.20773	T	0.068	0.19811	.	.	0.318828661733	0.31499	0.21961182318223102	0.21877	0.409640644394	0.41775	0.362998306751	0.19822	T	0.07893	0.36007	T	-0.400896	0.02284	T	-0.459602	0.26643	T	0.00784043668749551	0.00092	T	0.691431	0.30091	T	0.059705667	0.12165	0.06626017	0.13548	0.059705667	0.12164	0.06626017	0.13547	-3.793	0.20700	T	.	.	0.083	0.17189	B	.;.;.	.;.;.	1.521896	0.19539	14.31	0.91046540843169699	0.20298	0.93915	0.59560	D	AEFBI	0.381117	0.46350	N	-0.501761219732488	0.22022	1.173049	-0.418705535787528	0.24447	1.338828	4.79146737857058E-5	0.03989	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	4.33	2.02	0.25641	2.551000	0.45481	3.742000	0.39654	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.529000	0.29684	0.0:0.0852:0.164:0.7508	6.544	0.21594	885	0.28214	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2131.98	43	chr17	68271583	.	T	C	2131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e+00;DP=933;ExcessHet=0.0000;FS=0.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.00;QD=13.32;ReadPosRankSum=1.45;SOR=0.635	GT:AD:DP:GQ:PL	0/1:74,86:160:99:2146,0,1914	20	0	1	0
chr17	69129626	69129626	A	T	exonic	ABCA6	.	stopgain	ABCA6:NM_080284:exon7:c.T917A:p.L306X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	D	.	.	.	.	.	.	.	.	.	7.652	39	5.6	2.258	2.986	12.461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945218615	6.296e-06	6.167e-06	8.361e-06	4.215e-06	3.125e-05	2.96e-06	2.15e-06	2.66e-06	1.71e-06	3.125e-05	0	0	2.553e-05	0	0	6.404e-06	0	0	1.975e-05	1.971e-05	2.574e-05	1.347e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000819	0.41658	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.166	0.17553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595077	0.97509	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.612250	0.96691	36	0.99092801742143088	0.52272	0.87996	0.47736	D	AEDBI	0.080699	0.16319	N	0.793459149338064	0.85696	8.653347	0.677309046186258	0.80661	7.348281	0.374044326672459	0.19898	0.651	0.46895	0	0.588015	0.36545	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.6	5.6	0.84997	3.285000	0.51421	6.729000	0.56452	0.756000	0.94297	0.995000	0.38783	0.897000	0.27914	0.997000	0.79791	1.0:0.0:0.0:0.0	12.461	0.55071	924	0.18029	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1047.98	35	chr17	69129626	.	A	T	1047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.767;DP=785;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=0.861;SOR=0.829	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1062,0,1261	20	0	1	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.134	U	0.773	D	3.115	M	-3.44	D	0.986	D	0.905	D	0.506	3.427	17.59	-0.080	-0.265	-0.468	10.925	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	217.3	33	chr17	69194391	.	T	G	217.3	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.822e+00;DP=1966;ExcessHet=1.7912;FS=271.712;InbreedingCoeff=-0.1603;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.097;SOR=11.722	GT:AD:DP:GQ:PL	0/1:121,38:159:15:15,0,2572	15	0	6	0
chr17	74544657	74544657	G	A	exonic	CD300C	.	stopgain	CD300C:NM_006678:exon2:c.C352T:p.R118X,	.	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	4.266	22.3	-3.37	-0.775	-2.184	0.749	.	.	0.0005	0.00678914	0.0056	0.0006	0.0003	0.0098	0	0.0013	0.0066	0.0299	0.004877	754	154602	rs144695162	0.0028	0.0028	0.0020	0.0036	0.0272	0.0027	0.0027	0.0263	0.0259	0.0002	0.0002	0.0023	0.0076	5.616e-05	0.0029	0.0010	0.0039	0.0272	0.0020	0.0020	0.0013	0.0027	0.0307	0.0018	0.0017	0.0267	0.0251	0.0004	0	0.0008	0.0014	0.0095	0	0	0.0010	0.0009	0.0307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.049	0.02088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.153577	0.27752	T	0.0275706	0.72121	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.104579	0.85307	28.6	0.92480421288503367	0.21911	0.03519	0.08702	N	AEFDGBCI	0.067730	0.13329	N	-0.322898003884421	0.28280	1.558556	-0.790543498519526	0.14727	0.7710024	0.999997533290741	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	2.07	-3.37	0.04591	-3.368000	0.00550	-9.105000	0.00867	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1495:0.2183:0.2623:0.3699	0.749	0.00924	793	0.45818	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4057.98	35	chr17	74544657	.	G	A	4057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=1030;ExcessHet=0.0000;FS=4.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.733;SOR=0.930	GT:AD:DP:GQ:PL	0/1:140,163:303:99:4072,0,3313	20	0	1	0
chr17	74850229	74850229	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon6:c.G1468A:p.V490I	.	.	393	1103	26	0	0	26	0.0116487	.	.	717898	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.34	T	0.012	B	0.006	B	0.000	D	0.867	D	0.895	L	1.74	T	-1.020	T	0.078	T	0.063	2.147	13.13	3.09	2.256	2.112	8.195	0.062	.	0.0018	0.00678914	0.0045	0.0004	0.0017	0	0.0002	0.0024	0.0022	0.0214	0.0039909	617	154602	rs11575879	0.0026	0.0026	0.0021	0.0032	0.0195	0.0026	0.0025	0.0188	0.0184	0.0002	0.0017	0.0055	2.519e-05	0.0001	0.0094	0.0015	0.0038	0.0195	0.0024	0.0024	0.0021	0.0027	0.0222	0.0022	0.0021	0.0188	0.0175	0.0004	0	0.0039	0.0066	0.0002	0.0002	0.0204	0.0021	0.0028	0.0222	0.33	0.13131	T	0.283	0.22084	T	0.012	0.16265	B	0.006	0.12133	B	0.000493	0.43931	D	0.153988	0.866566	0.35484	D	0.46	0.12951	N	0.73	0.50721	T	-0.65	0.18877	N	0.137	0.20129	-1.0197	0.23812	T	0.078	0.31193	T	10	0.010271847	0.00229	T	.	.	.	0.062	0.17934	.	.	0.611931882649	0.60880	0.35387566347811217	0.35301	0.388676200589	0.40129	0.45320802927	0.32382	T	0.122326	0.44591	T	-0.595195	0.00156	T	-0.611476	0.11864	T	0.00969551111577982	0.00127	T	0.872813	0.58002	D	0.04485722	0.07242	0.039610934	0.04095	0.04485722	0.07242	0.039610934	0.04095	-6.864	0.53033	T	.	.	0.066	0.02313	B	.;.	.;.	3.849150	0.55744	23.6	0.96348833222253172	0.29510	0.74886	0.36645	D	AEFDBHCI	0.151619	0.27614	N	-0.257822359323592	0.30791	1.720286	-0.103504293223801	0.35248	2.037063	0.797738837798166	0.24130	0.653496	0.48692	0	0.613122	0.52510	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.06	3.09	0.34677	1.861000	0.39078	3.904000	0.40368	0.599000	0.40250	0.965000	0.33920	0.999000	0.35428	0.997000	0.79791	0.1604:0.7485:0.0:0.0911	8.195	0.30550	895	0.25842	Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-binding domain;Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-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	0.07143	7293.66	36	chr17	74850229	.	C	T	7293.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.730;DP=1054;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.39;ReadPosRankSum=-3.210e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/1:88,93:181:99:2294,0,2049	19	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:11,0,0,16,0:27:99:.:.:620,659,1115,659,1115,1115,0,456,456,408,659,1115,1115,456,1115	12	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACC:p.P33_A34insTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:11,0,0,16,0:27:99:.:.:620,659,1115,659,1115,1115,0,456,456,408,659,1115,1115,456,1115	12	1	1	0
chr17	74893497	74893497	-	CATGGGCTCCGTA	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.98_99insTACGGAGCCCATG:p.A34Tfs*256,	.	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.691e-05	0.0002	0.0011	0.0001	9.685e-05	0.0005	0.0003	3.3e-05	2.49e-05	0.0008	0	0.0009	0.0011	4.107e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0004	0.0018	0.0002	0.0002	0.0009	0.0006	9.334e-05	0	8.304e-05	0	0	0.0013	0	0.0003	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:11,0,0,16,0:27:99:.:.:620,659,1115,659,1115,1115,0,456,456,408,659,1115,1115,456,1115	12	1	1	0
chr17	74947377	74947377	C	T	exonic	OTOP3	.	nonsynonymous SNV	OTOP3:NM_001272005:exon6:c.C1468T:p.R490W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.127	B	0.063	B	0.915	N	1.000	N	1.1	L	3.01	T	-0.955	T	0.021	T	0.203	1.399	10.61	-2.37	-0.101	0.497	7.421	0.038	0.0115352944643	7.7e-05	0.00139776	0.0005	0	0	0.0001	0	1.565e-05	0	0.0032	0.0004204	65	154602	rs372116266	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	2.987e-05	8.944e-05	0	2.519e-05	0	0	2.878e-05	0.0003	0.0031	0.0002	0.0002	0.0001	0.0002	0.0041	0.0001	9.693e-05	0.0027	0.0023	2.405e-05	0	6.531e-05	0	0	0	0	4.41e-05	0	0.0041	.	.	.	.	.	.	0.127	0.26966	B	0.063	0.27082	B	0.915099	0.08526	N	0.947505	1	0.08975	N	1.5	0.37844	L	.	.	.	.	.	.	.	.	-0.9552	0.40060	T	0.021	0.09101	T	10	0.0076764226	0.00174	T	0.011535	0.29247	T	0.038	0.09825	.	.	0.21279746466	0.20884	0.4499873898637419	0.44916	0.035151546196	0.03706	0.421358376741	0.28023	T	0.069415	0.33703	T	-0.54618	0.00307	T	-0.56163	0.16224	T	0.0945919511001554	0.11751	T	0.79482	0.43725	T	0.089998916	0.21046	0.1552973	0.36408	0.089998916	0.21045	0.1552973	0.36407	-6.799	0.52552	T	.	.	0.108	0.20625	B	.;.	.;.	2.413488	0.31022	18.62	0.96885587895060155	0.31477	0.39430	0.26211	N	AEFBI	0.510925	0.53977	D	-0.627777724582124	0.18112	0.9377859	-0.627568313760056	0.18785	1.00509	2.25798458622229E-5	0.03498	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.04	-2.37	0.06262	0.144000	0.15956	-0.176000	0.11179	0.599000	0.40250	0.391000	0.26096	0.000000	0.08366	0.752000	0.35857	0.6689:0.2305:0.0:0.1006	7.421	0.26242	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1499.98	33	chr17	74947377	.	C	T	1499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.290e-01;DP=857;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.628;SOR=0.604	GT:AD:DP:GQ:PL	0/1:51,61:112:99:1514,0,1239	20	0	1	0
chr17	75502142	75502142	G	A	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.C2686T:p.P896S	.	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.009	B	0.004	B	0.893	N	1.000	D	1.245	L	-0.29	T	-0.818	T	0.208	T	0.062	-0.159	3.225	2.14	0.360	0.375	1.922	0.089	.	.	0.00559105	0.0040	0	0.0002	0	0	0	0	0.0273	0.0032082	496	154602	rs374609826	0.0016	0.0016	0.0010	0.0022	0.0254	0.0016	0.0015	0.0246	0.0242	0	8.948e-05	0	0	0	0.0009	1.799e-06	0.0023	0.0254	0.0008	0.0008	0.0004	0.0011	0.0237	0.0006	0.0006	0.0201	0.0188	0	0	0.0001	0	0	0	0	0	0	0.0237	0.251	0.18498	T	0.208	0.26883	T	0.009	0.15093	B	0.004	0.10090	B	0.892841	0.07306	N	1.062240	0.986921	0.24569	N	1.04	0.26193	L	-0.47	0.70133	T	-0.01	0.08653	N	0.078	0.05287	-0.8178	0.54071	T	0.208	0.56771	T	10	0.0027962923	0.00044	T	.	.	.	0.089	0.25827	0.19	0.10039	0.269682111328	0.26585	0.03967872947775032	0.03913	0.13630685124	0.15377	0.377530992031	0.21905	T	0.02174	0.16878	T	-0.552911	0.00280	T	-0.546045	0.17708	T	0.00750347469102786	0.00087	T	0.460354	0.13329	T	0.02823066	0.02129	0.03494811	0.02656	0.02823066	0.02129	0.03494811	0.02655	-5.199	0.38931	T	.	.	0.068	0.06571	B	.;.	.;.	0.726630	0.10958	7.623	0.88610794787367908	0.18113	0.37867	0.25859	N	AEFDBCI	0.253640	0.37310	N	-0.932856594154813	0.10080	0.4800267	-0.936697623480128	0.11232	0.5709873	0.131090871809753	0.17091	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.17	2.14	0.26518	0.549000	0.23037	0.381000	0.17781	-0.165000	0.11486	0.237000	0.24716	0.024000	0.20971	0.127000	0.19450	0.1835:0.1875:0.4855:0.1436	1.922	0.03109	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1258.98	41	chr17	75502142	.	G	A	1258.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.728;DP=1030;ExcessHet=0.0000;FS=2.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-1.139e+00;SOR=0.999	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1273,0,1093	20	0	1	0
chr17	75624807	75624807	-	CAA	exonic	MYO15B	.	nonframeshift insertion	MYO15B:NM_001309242:exon58:c.8465_8466insCAA:p.N2823_S2824insN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0005	3.84e-05	1	26028	rs775323759	7.082e-05	6.202e-05	1.98e-05	0.0001	0.0006	5.299e-05	4.652e-05	0.0005	0.0004	0	0	0	0	0	0	0	3.267e-05	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3658.94	36	chr17	75624807	.	T	TCAA	3658.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.518;DP=1072;ExcessHet=0.0000;FS=1.217;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.04;ReadPosRankSum=0.774;SOR=0.587	GT:AD:DP:GQ:PL	0/1:73,93:166:99:3673,0,2760	20	0	1	0
chr17	76293678	76293678	G	A	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon4:c.C551T:p.S184L,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.001	B	.	.	1.000	N	1.385	L	2.98	T	-0.908	T	0.016	T	0.057	0.377	6.049	-7.47	-1.920	-1.581	7.450	0.021	0.00233241519237	.	0.000399361	0.0003	0	0.0003	0.0001	0	0.0001	0	0.0016	0.0002781	43	154602	rs140207583	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0018	0.0017	0	2.236e-05	0	0	0	0.0007	7.644e-05	0.0001	0.0020	0.0002	0.0002	6.425e-05	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	2.406e-05	0	6.543e-05	0	0.0004	0	0	0.0001	0	0.0037	0.254	0.16903	T	0.437	0.13441	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	2.98	0.09356	T	-1.23	0.31170	N	0.042	0.01498	-0.9079	0.47109	T	0.016	0.06425	T	9	0.010095328	0.00226	T	0.002332	0.04507	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.03103682696857695	0.03052	0.144979564381	0.16386	0.287520945072	0.08562	T	0.003	0.02708	T	-0.75054	0.00018	T	-0.864105	0.00800	T	0.00877852218395461	0.00108	T	0.548145	0.18826	T	0.031662926	0.03048	0.042302486	0.05007	0.031177295	0.02911	0.047676537	0.06919	-4.191	0.26621	T	.	.	0.143	0.31456	B	.;.	.;.	-0.475027	0.01948	0.167	0.65405206518781023	0.07763	0.01355	0.04643	N	AEFGBI	0.026815	0.02078	N	-1.71298297381676	0.00797	0.03442817	-1.84423425430848	0.00628	0.02789969	0.145917830799482	0.17357	0.566229	0.32551	0	0.588015	0.36545	0	0.679469	0.61720	0	0.508809	0.08732	0	.	.	3.74	-7.47	0.01221	-1.951000	0.01620	.	.	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4811:0.0:0.4081:0.1108	7.450	0.26400	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2511.98	139	chr17	76293678	.	G	A	2511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.350e-01;DP=1870;ExcessHet=0.0000;FS=1.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-1.814e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/1:97,101:198:99:2526,0,2439	20	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,111,0:111:99:1|1:80090216_G_C:4397,333,0,4397,333,4397:80090216	1	6	9	4
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,118,0:118:99:1|1:80090216_G_C:4050,322,0,4050,322,4050:80090216	1	7	4	7
chr17	81645407	81645407	G	C	exonic	TSPAN10	.	nonsynonymous SNV	TSPAN10:NM_001290212:exon3:c.G452C:p.R151P	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.968	D	0.65	P	0.267	N	1.000	N	2.175	M	-1.26	T	-0.516	T	0.431	T	0.726	1.198	9.867	-0.201	-0.152	0.085	10.52	0.543	.	.	0.00259585	0.0024	0	0.0002	0	0	0	0	0.0165	0.0018046	279	154602	rs533267022	0.0011	0.0011	0.0005	0.0016	0.0171	0.0010	0.0010	0.0163	0.0160	0	0	0	0	0	0	2.435e-05	0.0007	0.0171	0.0006	0.0006	0.0002	0.0009	0.0165	0.0005	0.0004	0.0136	0.0126	0	0	0	0	0	0	0	7.351e-05	0	0.0165	.	.	.	0.042	0.50226	D	.	.	.	.	.	.	0.267257	0.15198	N	0.625852	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.13	0.20395	-0.5157	0.68076	T	0.431	0.77277	T	10	0.009663761	0.00217	T	.	.	.	.	.	0.681	0.81885	0.139678290688	0.13603	0.7892947586093271	0.78881	.	.	0.268006026745	0.05882	T	.	.	.	-0.106684	0.35317	T	0.0869537	0.76042	D	0.0881646162948201	0.10997	T	0.70483	0.31518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.53838	B	.;.	.;.	1.395059	0.18080	13.54	0.93027153048846933	0.22626	0.31364	0.24318	N	AEFDBI	0.448459	0.50368	N	-0.681426430225603	0.16552	0.8442731	-0.869427039627252	0.12822	0.6617679	0.00478086744589921	0.10707	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.075334	0.01956	0	.	.	4.15	-0.201	0.12563	0.053000	0.14067	-0.032000	0.12782	-2.459000	0.00277	0.003000	0.16062	0.002000	0.18203	0.001000	0.02609	0.3174:0.0:0.6826:0.0	10.52	0.44101	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1434.98	78	chr17	81645407	.	G	C	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=1748;ExcessHet=0.0000;FS=4.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=-6.600e-02;SOR=0.345	GT:AD:DP:GQ:PL	0/1:29,50:79:99:1449,0,706	20	0	1	0
chr17	81914520	81914520	G	C	exonic	SIRT7	.	nonsynonymous SNV	SIRT7:NM_016538:exon7:c.C590G:p.S197C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.596	P	0.563	P	0.000	N	1.000	D	2.615	M	0.85	T	-0.772	T	0.207	T	0.347	1.393	10.59	2.78	0.786	5.222	7.879	0.157	0.0909141661862	.	.	4.153e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs761467889	1.917e-05	1.915e-05	5.448e-06	3.302e-05	0.0003	1.329e-05	1.144e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	6.566e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.026	0.46910	D	0.048	0.52727	D	0.441	0.35913	B	0.4	0.44481	B	0.000249	0.46924	N	0.193921	0.995579	0.47497	D	2.775	0.80997	M	0.85	0.47130	T	-3.6	0.69357	D	0.462	0.49874	-0.7725	0.56720	T	0.207	0.56553	T	10	0.4874068	0.60790	T	0.090914	0.75609	D	0.157	0.40909	0.637	0.77361	0.350697349064	0.34675	0.4706703819448738	0.46986	0.75484548337	0.63964	0.526067793369	0.42481	T	0.52419	0.83415	D	-0.292114	0.09425	T	-0.346859	0.39564	T	0.583649158477783	0.35759	D	0.936906	0.77964	D	0.15380271	0.34845	0.13998829	0.33383	0.15380271	0.34844	0.13998829	0.33382	-10.493	0.76807	D	.	.	0.104	0.24020	B	.;.	.;.	3.249947	0.44396	21.9	0.98423735475828922	0.41320	0.99084	0.90989	D	AEFDBI	0.735499	0.68129	D	0.0861049141934233	0.45815	2.831799	0.0122208079528272	0.40280	2.40147	0.994750054672904	0.33785	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.75	2.78	0.31702	5.330000	0.65675	7.278000	0.58013	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.1905:0.0:0.8095:0.0	7.879	0.28773	.	.	Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2155.98	37	chr17	81914520	.	G	C	2155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=956;ExcessHet=0.0000;FS=1.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=1.09;SOR=0.821	GT:AD:DP:GQ:PL	0/1:75,80:155:99:2170,0,1840	20	0	1	0
chr18	2940695	2940695	G	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon5:c.C608T:p.S203F	Majeed syndrome	.	0	1505	16	1	0	18	0.00594452	.	.	232058	LPIN2-related_disorder|Majeed_syndrome|not_provided|Autoinflammatory_syndrome	.|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.579	P	0.149	B	0.009	N	0.999	D	2.34	M	-1.49	T	-0.162	T	0.445	T	0.242	2.907	15.69	4.72	1.367	6.115	16.029	0.350	.	7.7e-05	0.00838658	0.0043	0.0003	0.0002	0.0001	0	0	0.0022	0.0310	0.0037192	575	154602	rs144555528	0.0018	0.0018	0.0010	0.0026	0.0293	0.0018	0.0017	0.0284	0.0280	8.982e-05	2.237e-05	0	2.524e-05	0	0.0009	8.123e-06	0.0018	0.0293	0.0012	0.0012	0.0006	0.0017	0.0358	0.0010	0.0010	0.0315	0.0298	0.0001	0	0	0	0	0	0	0	0.0009	0.0358	0.273	0.15876	T	0.484	0.11760	T	0.579	0.38789	P	0.149	0.34106	B	0.008753	0.30686	N	0.396200	0.999295	0.46578	D	2.6	0.76081	M	-1.49	0.81235	T	-0.09	0.08340	N	0.345	0.38643	-0.1622	0.78617	T	0.445	0.78142	T	10	0.004179597	0.00083	T	.	.	.	0.350	0.67142	.	.	0.386522206555	0.38262	0.12012611072688395	0.11939	0.344818283025	0.36407	0.546002864838	0.45293	T	0.118473	0.43932	T	-0.314475	0.07359	T	-0.202185	0.54439	T	0.0578471605200624	0.06824	T	0.90371	0.70348	D	0.13882445	0.32092	0.1188448	0.28687	0.118005805	0.27810	0.11826	0.28545	-5.433	0.41236	T	0.3195091667922497	0.41762	0.091	0.12985	B	.;.	.;.	3.888708	0.56570	23.7	0.9935109246527104	0.60574	0.98273	0.81149	D	AEFBI	0.557014	0.56682	D	0.312169428483231	0.56773	3.842598	0.382658397834628	0.60497	4.237817	0.999997065642109	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.6	4.72	0.59248	6.838000	0.75152	11.782000	0.96139	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8647:0.1353	16.029	0.80362	747	0.52260	.;.	.	.	.	.	.	Likely benign	0	0	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	0.02381	1603.98	34	chr18	2940695	.	G	A	1603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.640e-01;DP=837;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-9.300e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:75,69:144:99:1618,0,1936	20	0	1	0
chr18	3119949	3119949	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.C2750T:p.A917V	.	.	428	1091	3	0	0	3	0.001373	.	.	402753	Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy	MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.605	H	-0.34	T	0.444	D	0.618	D	0.951	5.706	36	5.3	2.763	9.652	19.157	0.808	.	.	0.00658946	0.0041	0	0.0003	0	0	0	0.0032	0.0265	0.0026132	404	154602	rs557671408	0.0012	0.0012	0.0007	0.0017	0.0196	0.0012	0.0011	0.0189	0.0186	2.991e-05	2.271e-05	0	2.525e-05	0	0.0011	3.603e-06	0.0012	0.0196	0.0007	0.0007	0.0004	0.0012	0.0228	0.0006	0.0006	0.0193	0.0181	2.406e-05	0	6.539e-05	0	0	0	0	0	0.0009	0.0228	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.11	0.97368	H	-0.34	0.68474	T	-3.91	0.73042	D	0.952	0.96072	0.444	0.89745	D	0.618	0.86514	D	10	0.011919409	0.00259	T	.	.	.	0.808	0.93777	0.771	0.89767	0.940705301995	0.94009	0.911872829564472	0.91161	0.620939749653	0.56394	0.520721197128	0.41728	T	0.246501	0.61598	T	0.0575577	0.59305	T	0.326821	0.89375	D	0.221056108702093	0.21516	T	0.973803	0.91007	D	0.9641934	0.97699	0.9087644	0.95600	0.9612137	0.97403	0.92386407	0.96670	-12.838	0.88938	D	0.6697714128045205	0.74455	0.823	0.78403	P	.;.;.	.;.;.	4.759443	0.76940	26.6	0.99940444594379352	0.99767	0.86925	0.46317	D	AEFGBHCI	0.951964	0.96699	D	1.04523263843194	0.96977	15.40776	0.968129970108512	0.97909	17.01246	1.0	0.98316	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.3	5.3	0.74745	9.770000	0.98154	9.663000	0.81199	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.157	0.93499	876	0.30350	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1435.98	36	chr18	3119949	.	G	A	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.363e+00;DP=799;ExcessHet=0.0000;FS=2.949;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.78;ReadPosRankSum=-1.981e+00;SOR=0.519	GT:AD:DP:GQ:PL	0/1:31,60:91:99:1450,0,730	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:4,274,156:434:99:.:.:13817,6365,7727,7882,0,10048	3	2	4	0
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,156,0:451:99:0|1:9887408_AG_A:5696,0,10458,7377,11887,22892:9887408	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,156,0:451:99:0|1:9887408_AG_A:5696,0,10458,7377,11887,22892:9887408	7	3	8	2
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q,	.	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:230,44:274:99:556,0,5987	9	0	12	0
chr18	21573514	21573514	G	A	exonic	ESCO1	.	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.C1330T:p.H444Y,	.	.	437	1068	16	1	0	18	0.00835655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.001	B	0.002	B	0.018	N	1.000	N	0.4	N	1.85	T	-1.058	T	0.064	T	0.234	-0.663	1.095	2.64	0.815	0.636	7.288	0.031	.	0.0013	0.00359425	0.0044	0.0003	0.0015	0	0.0009	0.0034	0.0033	0.0164	0.0039003	603	154602	rs146713905	0.0025	0.0025	0.0020	0.0030	0.0155	0.0024	0.0024	0.0148	0.0145	0.0003	0.0011	0.0070	0	0.0008	0.0057	0.0017	0.0027	0.0155	0.0016	0.0016	0.0015	0.0017	0.0125	0.0014	0.0014	0.0100	0.0090	0.0003	0	0.0018	0.0063	0	0.0002	0.0034	0.0017	0.0019	0.0125	0.114	0.28646	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.018265	0.27521	N	0.318671	1	0.08975	N	1.43	0.35840	L	0.28	0.59037	T	-1.28	0.32185	N	0.136	0.13341	-1.0582	0.12209	T	0.064	0.26385	T	10	0.0045928657	0.00096	T	.	.	.	0.031	0.07369	.	.	0.31506500091	0.31122	0.1572316535599928	0.15644	0.0083966144787	0.00763	0.282772749662	0.07882	T	0.029098	0.20925	T	-0.474557	0.00796	T	-0.441471	0.28644	T	0.00511513531306711	0.00055	T	0.555444	0.19245	T	0.025368847	0.01468	0.04517232	0.06021	0.025368847	0.01468	0.04517232	0.06020	-4.255	0.27541	T	.	.	0.073	0.04477	B	.	.	0.243426	0.06232	2.687	0.91231191674201328	0.20488	0.05980	0.11941	N	AEFDBI	0.041615	0.06349	N	-0.830299534586985	0.12541	0.6119013	-0.747720079566386	0.15778	0.8315228	0.0928019650306416	0.16167	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.8	2.64	0.30504	0.666000	0.24779	2.123000	0.30732	0.676000	0.76740	0.060000	0.21767	0.982000	0.30508	0.096000	0.18090	0.3762:0.0:0.6238:0.0	7.288	0.25522	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3717.11	33	chr18	21573514	.	G	A	3717.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=937;ExcessHet=0.1072;FS=1.538;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.75;ReadPosRankSum=0.599;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,46:130:99:0|1:21573514_G_A:1628,0,3134:21573514	19	0	2	0
chr18	31159496	31159496	C	T	exonic	DSC1	.	nonsynonymous SNV	DSC1:NM_004948:exon2:c.G97A:p.V33I	.	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.002	B	0.995	N	0.753	D	0.61	N	0.12	T	-0.965	T	0.109	T	0.042	0.678	7.627	1.49	0.465	1.658	6.556	0.090	0.00740782750483	.	0.000599042	0.0005	0	0	0.0001	0	0.0002	0	0.0029	0.000401	62	154602	rs191709242	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0005	6.845e-05	0.0002	0.0027	6.085e-05	5.991e-05	1.312e-05	0.0001	0.0011	3.158e-05	2.368e-05	0.0004	0.0003	0	0	0	0	0	0	0	5.937e-05	0	0.0011	0.226	0.18626	T	0.167	0.31629	T	0.0	0.02946	B	0.002	0.06944	B	0.995469	0.08001	N	0.997463	0.753461	0.33955	D	0.32	0.10341	N	0.12	0.61089	T	-0.55	0.17003	N	0.125	0.13626	-0.9647	0.38270	T	0.109	0.39415	T	10	0.011830658	0.00257	T	0.007408	0.19657	T	0.090	0.26093	.	.	0.436132833422	0.43236	0.27312036189837896	0.27225	0.0533693902352	0.05882	0.414091557264	0.27023	T	0.01836	0.14816	T	-0.585379	0.00179	T	-0.618248	0.11323	T	0.0146028661410571	0.00300	T	0.624238	0.24084	T	0.02819925	0.02122	0.042945605	0.05231	0.02819925	0.02121	0.042945605	0.05230	-4.612	0.32794	T	.	.	0.069	0.03197	B	.;.	.;.	1.549101	0.19855	14.47	0.91706913990164152	0.21001	0.06167	0.12150	N	AEFDI	0.030741	0.03152	N	-0.716297425123861	0.15564	0.7854532	-0.596186507646444	0.19591	1.051839	0.013008364281724	0.12403	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	1.49	0.21966	1.906000	0.39518	0.180000	0.15620	-0.114000	0.14653	1.000000	0.71638	0.993000	0.31925	0.970000	0.54328	0.0:0.4463:0.0:0.5537	6.556	0.21658	594	0.68584	Cadherin prodomain|Cadherin prodomain;Cadherin prodomain|Cadherin prodomain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1771.98	33	chr18	31159496	.	C	T	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.011e+00;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-9.240e-01;SOR=0.666	GT:AD:DP:GQ:PL	0/1:55,76:131:99:1786,0,1279	20	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:33,32:68:99:202,0,476	1	0	20	0
chr18	45734374	45734374	C	T	exonic	SLC14A1	.	nonsynonymous SNV	SLC14A1:NM_001308279:exon3:c.C46T:p.L16F	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.013	B	0.073	B	0.066	N	0.973	N	0.785	N	0.71	T	-1.018	T	0.070	T	0.137	-0.205	3.005	-5.34	-1.222	-0.357	11.948	0.047	.	.	0.00299521	0.0007	0	8.639e-05	0	0	0	0	0.0051	0.0006533	101	154602	rs563016158	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0040	0	2.236e-05	0	0	0	0.0005	2.518e-05	0.0004	0.0046	0.0002	0.0002	0.0001	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	0	0	0	0	0	0	0.0034	5.883e-05	0	0.0048	0.419	0.11550	T	0.291	0.27414	T	0.013	0.16609	B	0.042	0.28123	B	0.066468	0.21809	N	0.457966	1	0.25574	N	0.41	0.12415	N	0.71	0.51228	T	-1.55	0.37566	N	0.077	0.11340	-1.0184	0.24236	T	0.070	0.28675	T	10	0.010507822	0.00233	T	.	.	.	0.047	0.12962	0.632	0.76810	0.359763055319	0.35592	0.7460463153490325	0.74550	0.121600080032	0.13703	0.282375782728	0.07826	T	0.107008	0.41884	T	-0.599291	0.00147	T	-0.632663	0.10214	T	0.0136333213351631	0.00253	T	0.606339	0.26688	T	0.17119144	0.37738	0.1305254	0.31361	0.16265717	0.36355	0.10768685	0.25927	-8.006	0.61111	D	0.14178617454011205	0.15980	0.061	0.06710	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	-0.949601	0.00846	0.029	0.63457593210648044	0.07229	0.03774	0.09091	N	AEFBI	0.128845	0.24678	N	-1.55996653810449	0.01477	0.06447476	-1.61972330332129	0.01539	0.06975818	0.999548184873933	0.40300	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.46	-5.34	0.02496	-0.344000	0.07829	-3.018000	0.03136	-0.980000	0.01901	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.6127:0.1203:0.267	11.948	0.52222	965	0.07246	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1092.98	36	chr18	45734374	.	C	T	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.510e-01;DP=784;ExcessHet=0.0000;FS=1.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=-1.280e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1107,0,1018	20	0	1	0
chr18	47084381	47084381	C	T	exonic	KATNAL2	.	stopgain	KATNAL2:NM_001353909:exon12:c.C829T:p.Q277X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402700333	1.816e-06	1.59e-06	0	3.354e-06	1.593e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.593e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7806e-05	0.18612	A	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.558887	0.00258	T	-0.9128	0.00418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.202255	0.03078	0.482	0.17163098600936599	0.00489	0.00348	0.01797	N	AEFHCI	0.008637	0.00042	N	.	.	.	.	.	.	0.751790962245896	0.23371	0.533608	0.22052	0	0.61073	0.52368	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	3.12	-2.76	0.05547	-0.968000	0.03928	0.025000	0.13648	-1.197000	0.01367	0.000000	0.06391	0.003000	0.18671	0.004000	0.06068	0.1857:0.1224:0.3798:0.3122	1.201	0.01769	819	0.41190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1897.98	42	chr18	47084381	.	C	T	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.657e+00;DP=907;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-9.000e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/1:50,81:131:99:1912,0,1114	20	0	1	0
chr18	49906490	49906490	C	G	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.G2343C:p.K781N,	Microvillus inclusion disease, Autosomal recessive	.	0	1493	28	1	0	30	0.00994695	.	.	715996	MYO5B-related_disorder|Congenital_microvillous_atrophy|not_provided|not_specified	.|MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.002	B	0.021	B	0.115	N	0.994	D	1.7	L	-3.68	D	0.358	D	0.733	D	0.15	1.251	10.08	3.04	1.168	0.429	9.320	0.313	0.0525798051025	0.0016	0.00199681	0.0025	0.0005	0.0024	0	0.0003	0.0033	0.0067	0.0028	0.0024256	375	154602	rs61737448	0.0022	0.0022	0.0021	0.0023	0.0206	0.0021	0.0021	0.0176	0.0165	0.0014	0.0036	0.0272	0	0.0001	0.0206	0.0014	0.0050	0.0031	0.0020	0.0020	0.0020	0.0019	0.0028	0.0018	0.0017	0.0021	0.0019	0.0004	0	0.0028	0.0222	0	0.0002	0.0136	0.0019	0.0085	0.0027	0.002	0.72154	D	0.018	0.59732	D	0.002	0.09854	B	0.021	0.19346	B	0.114863	0.19258	N	0.557292	0.963049	0.26041	N	2.095	0.58118	M	-3.68	0.95282	D	-2.12	0.48184	N	0.512	0.54322	0.358	0.88460	D	0.733	0.90873	D	10	0.008488208	0.00192	T	0.05258	0.65129	D	0.313	0.63482	0.744	0.87570	0.854352048779	0.85295	0.5485949372223983	0.54785	0.277704376549	0.30248	0.389565467834	0.23609	T	0.147108	0.48503	T	-0.286034	0.10038	T	-0.187323	0.55841	T	0.0109958148807864	0.00158	T	0.953005	0.82069	D	0.27600676	0.50663	0.22935852	0.48005	0.27600676	0.50663	0.22935852	0.48004	-9.57	0.71294	D	0.1995306644029128	0.26456	0.403	0.59755	A	.	.	2.772506	0.36392	20.2	0.99594834571776047	0.73807	0.23225	0.22006	N	AEFBI	0.151852	0.27642	N	-0.44947611632423	0.23757	1.278057	-0.410507502553218	0.24689	1.353386	0.00767721798434629	0.11520	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.42	3.04	0.34171	0.479000	0.21938	0.072000	0.14274	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.305000	0.24618	0.0:0.7006:0.0:0.2994	9.320	0.37124	933	0.16026	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1566.98	33	chr18	49906490	.	C	G	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.236e+00;DP=823;ExcessHet=0.0000;FS=0.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.43;SOR=0.633	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1581,0,1449	20	0	1	0
chr18	50805242	50805243	AG	-	exonic	MRO	.	frameshift deletion	MRO:NM_001127174:exon4:c.340_341del:p.L114Dfs*29	.	.	428	1071	22	1	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0082	0.00279553	0.0093	0.0017	0.0022	0.0001	0.0197	0.0135	0.0055	0.0028	0.0011142	29	26028	rs553835874	0.0088	0.0088	0.0089	0.0086	0.0096	0.0087	0.0086	0.0095	0.0094	0.0009	0.0024	0.0148	5.038e-05	0.0179	0.0050	0.0096	0.0070	0.0026	0.0067	0.0067	0.0070	0.0064	0.0093	0.0064	0.0062	0.0087	0.0085	0.0015	0.0011	0.0051	0.0164	0	0.0155	0.0068	0.0093	0.0052	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2297.94	47	chr18	50805241	.	CAG	C	2297.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=938;ExcessHet=0.0000;FS=0.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.96;ReadPosRankSum=1.22;SOR=0.611	GT:AD:DP:GQ:PL	0/1:83,61:144:99:2312,0,3300	20	0	1	0
chr18	58535106	58535106	C	T	exonic	ALPK2	.	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G5081A:p.R1694Q,	.	.	.	.	.	.	.	.	.	.	.	1806070	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	N	-1.65	N	1.1	T	-0.959	T	0.023	T	0.083	-0.524	1.611	-2.71	-0.221	0.218	1.604	0.091	0.00371877346166	0.0006	.	0.0005	0.0003	0.0003	0	0	0.0006	0.0011	0.0008	0.0005045	78	154602	rs145798849	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	8.961e-05	0.0002	0	0	1.873e-05	0.0003	0.0007	0.0009	0.0013	0.0004	0.0004	0.0005	0.0003	0.0012	0.0003	0.0003	0.0005	0.0005	7.221e-05	0	0.0004	0	0	0	0	0.0007	0	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.00162	N	18.306500	1	0.08975	N	-2.015	0.00187	N	1.1	0.39050	T	1.57	0.00677	N	0.073	0.04668	-0.9592	0.39330	T	0.023	0.09696	T	10	0.008346558	0.00189	T	0.003719	0.08620	T	0.091	0.26358	.	.	0.158396225186	0.15383	0.02215701606801547	0.02167	0.109243230872	0.12323	0.18361800909	0.00132	T	0.002932	0.02330	T	-0.61824	0.00113	T	-0.721434	0.04727	T	0.0025493908038183	0.00027	T	0.442056	0.12263	T	0.04450739	0.07126	0.037013315	0.03266	0.04450739	0.07126	0.037013315	0.03266	-3.017	0.10365	T	.	.	0.068	0.02670	B	.	.	-0.360005	0.02367	0.259	0.52596716554155165	0.04778	0.00115	0.00727	N	AEFGBHCIJ	0.041551	0.06333	N	-1.82438389269179	0.00488	0.02101191	-1.74172828221623	0.00965	0.04321418	0.999999901421708	0.74766	0.497415	0.19182	0	0.218748	0.04544	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.07	-2.71	0.05633	0.145000	0.15978	-0.871000	0.07103	-1.909000	0.00517	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.125:0.1542:0.2574:0.4635	1.604	0.02518	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1728.98	82	chr18	58535106	.	C	T	1728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=1692;ExcessHet=0.0000;FS=7.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=-1.043e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1743,0,1466	20	0	1	0
chr18	58580312	58580312	G	-	exonic	ALPK2	.	frameshift deletion	ALPK2:NM_052947:exon4:c.464delC:p.P155Rfs*93,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.656e-05	0	0	0	0	0	0.0011	6.058e-05	1.29e-05	2	154602	rs770675304	1.915e-05	1.915e-05	1.089e-05	2.75e-05	0.0002	1.328e-05	1.144e-05	0.0001	8.646e-05	0	0	0	0	0	0	1.169e-05	0	0.0002	2.63e-05	3.284e-05	2.57e-05	2.693e-05	0.0004	8.15e-06	5.14e-06	7.318e-05	3.039e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1962.94	47	chr18	58580311	.	CG	C	1962.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=2211;ExcessHet=0.0000;FS=3.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.760e-01;SOR=0.935	GT:AD:DP:GQ:PL	0/1:78,71:149:99:1977,0,2184	20	0	1	0
chr18	58984312	58984312	G	A	exonic	ZNF532	.	nonsynonymous SNV	ZNF532:NM_001353538:exon6:c.G2948A:p.S983N	.	.	529	985	7	1	0	9	0.00454775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.0	B	0.014	N	0.990	N	1.04	L	4.71	T	-0.949	T	0.006	T	0.013	0.534	6.891	4.93	1.480	2.655	11.973	0.096	0.00305694440415	0.0008	0.000798722	0.0009	0.0003	0.0010	0	0	0.0012	0.0011	0.0004	0.0007762	120	154602	rs143994649	0.0010	0.0010	0.0010	0.0009	0.0063	0.0009	0.0009	0.0044	0.0038	0.0003	0.0013	7.653e-05	0	0.0004	0.0063	0.0010	0.0014	0.0004	0.0009	0.0009	0.0010	0.0008	0.0030	0.0008	0.0007	0.0023	0.0021	0.0002	0	0.0030	0	0	9.422e-05	0.0068	0.0010	0.0038	0.0008	0.676	0.04482	T	0.497	0.11299	T	0.0	0.02946	B	0.0	0.01387	B	0.014497	0.28517	N	0.447252	0.99001	0.24226	N	0.975	0.24501	L	4.71	0.01655	T	-0.59	0.17624	N	0.053	0.02462	-0.9492	0.41109	T	0.006	0.02168	T	10	0.003583014	0.00065	T	0.003057	0.06606	T	0.096	0.27654	.	.	0.0675242888579	0.06100	0.12404409397100531	0.12330	0.509160944495	0.49056	0.312704443932	0.12316	T	0.012321	0.10853	T	-0.665897	0.00058	T	-0.76467	0.02947	T	0.00489879223389407	0.00053	T	0.815218	0.46991	T	0.051590893	0.09496	0.06170134	0.11958	0.051590893	0.09495	0.06170134	0.11957	-4.277	0.27853	T	.	.	0.070	0.03736	B	.;.;.;.;.	.;.;.;.;.	1.794569	0.22813	15.77	0.90076832102495719	0.19361	0.42103	0.26804	N	AEFBCI	0.158269	0.28390	N	-0.38676416620274	0.25940	1.411921	-0.270097243889027	0.29088	1.62696	0.999998851449147	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.79	4.93	0.64394	2.036000	0.40786	5.028000	0.46802	0.670000	0.69193	0.043000	0.21118	0.979000	0.30280	0.876000	0.41813	0.1433:0.0:0.8567:0.0	11.973	0.52364	840	0.37365	.;.;.;.;.	.	.	.	.	.	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	0.025	1326.33	34	chr18	58984312	.	G	A	1326.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-7.730e-01;DP=735;ExcessHet=0.0000;FS=5.932;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=16.79;ReadPosRankSum=1.23;SOR=0.851	GT:AD:DP:GQ:PL	0/1:30,49:79:99:1340,0,761	19	0	1	1
chr18	62716105	62716105	C	G	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.C422G:p.S141W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	0.994	D	0.345	N	1.47	T	-1.055	T	0.049	T	0.391	2.106	13.00	0.817	1.162	2.862	5.421	0.092	0.388389834585	.	.	0.0001	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs770977672	1.772e-05	1.71e-05	1.747e-05	1.798e-05	0.0002	1.199e-05	1.008e-05	9.096e-05	7.123e-05	3.586e-05	0	0	0.0001	0	0	9.37e-07	0.0001	0.0002	1.975e-05	1.969e-05	2.576e-05	1.347e-05	0.0004	5.25e-06	2.46e-06	6.949e-05	2.902e-05	0	0	0	0	0.0004	9.47e-05	0	0	0	0	0.001	0.78490	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	0.994341	0.42247	D	0.55	0.14455	N	1.47	0.31987	T	-0.94	0.25118	N	0.332	0.37301	-1.0547	0.13119	T	0.049	0.20987	T	7	0.19669002	0.35571	T	0.38839	0.93132	D	0.092	0.26621	0.35	0.34760	0.284112513307	0.28011	0.16172131375778948	0.16093	2.01563215202	0.93938	0.874793946743	0.93247	D	0.109055	0.42260	T	-0.221948	0.17727	T	-0.301543	0.44562	T	0.227706782313706	0.21842	T	0.576042	0.20701	T	0.17199712	0.37865	0.2499546	0.50577	0.17199712	0.37865	0.2499546	0.50576	-11.192	0.80700	D	.	.	0.334	0.55501	B	.	.	2.962028	0.39448	21.0	0.984568309779975	0.41688	0.42091	0.26802	N	ALL	0.092856	0.18794	N	-0.178710726801247	0.34022	1.936971	-0.169938192319504	0.32649	1.859579	0.999999999998841	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	2.93	0.817	0.17914	-0.353000	0.07740	5.610000	0.49052	0.375000	0.20354	0.000000	0.06391	0.996000	0.32793	0.357000	0.25818	0.1985:0.6793:0.0:0.1222	5.421	0.15700	945	0.12563	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	283.98	25	chr18	62716105	.	C	G	283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=722;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.10;ReadPosRankSum=-1.986e+00;SOR=0.526	GT:AD:DP:GQ:PL	0/1:26,14:40:99:298,0,637	20	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,27:84:99:.:.:278,0,1274	0	0	20	1
chr18	70075407	70075407	C	T	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon32:c.G1773A:p.M591I	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.001	B	0.002	B	0.111	N	0.996	D	0.205	N	0.71	T	-0.932	T	0.061	T	0.168	0.689	7.679	-8.5	-2.262	-1.604	1.057	0.089	0.0042757366094	.	.	1.664e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760402173	7.587e-06	7.525e-06	4.114e-06	1.11e-05	0.0001	4.07e-06	2.98e-06	5.574e-05	4.171e-05	0	0	0	0	0	0	0	3.337e-05	0.0001	6.577e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.47	0.08483	T	0.513	0.10714	T	0.001	0.07471	B	0.002	0.06944	B	0.111218	0.19409	N	0.597682	0.996223	0.43084	D	1.15	0.29295	L	0.71	0.51228	T	-0.03	0.07444	N	0.173	0.18512	-0.9318	0.43874	T	0.061	0.25383	T	10	0.052659392	0.05334	T	0.004276	0.10341	T	0.089	0.25827	0.526	0.63115	0.162503812791	0.15892	0.21539050536198637	0.21455	0.0777069865228	0.08742	0.224490180612	0.01585	T	0.046525	0.27449	T	-0.435118	0.01382	T	-0.593493	0.13365	T	0.014096493975504	0.00274	T	0.666633	0.27564	T	0.055990733	0.10955	0.043538217	0.05439	0.055990733	0.10954	0.043538217	0.05438	-2.303	0.04929	T	0.1345217259613004	0.14538	0.178	0.38871	B	.;.	.;.	0.246936	0.06266	2.721	0.80572708743683286	0.13267	0.02687	0.07323	N	AEFGBI	0.035489	0.04577	N	-1.48198481529037	0.01977	0.08682478	-1.53028739903965	0.02114	0.09677238	0.985601918791818	0.30916	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	5.52	-8.5	0.00808	-1.560000	0.02264	-5.444000	0.01716	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.466000	0.28252	0.1835:0.2415:0.1804:0.3946	1.057	0.01492	960	0.08626	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	750.98	33	chr18	70075407	.	C	T	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.431e+00;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=0.066;SOR=0.671	GT:AD:DP:GQ:PL	0/1:43,38:81:99:765,0,976	20	0	1	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	D	-0.06	N	-0.34	T	-1.000	T	0.106	T	0.201	-0.358	2.310	3.71	0.793	5.868	10.024	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2308	1270.66	37	chr18	79373903	.	A	G	1270.66	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-1.120e+00;DP=912;ExcessHet=2.0135;FS=176.158;InbreedingCoeff=-0.3148;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=0.253;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,6:29:99:0|1:79373903_A_G:145,0,807:79373903	7	0	6	8
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.354	B	0.097	B	0.000	D	1.000	D	2.775	M	-0.78	T	-0.794	T	0.230	T	0.523	1.377	10.53	-2.28	-0.455	-0.373	8.239	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	2387.64	32	chr18	79373905	.	C	G	2387.64	.	AC=10;AF=0.500;AN=20;BaseQRankSum=2.00;DP=837;ExcessHet=9.8992;FS=418.465;InbreedingCoeff=-0.4008;MLEAC=16;MLEAF=0.800;MQ=60.00;MQRankSum=0.00;QD=6.15;ReadPosRankSum=1.06;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,6:29:99:0|1:79373903_A_G:145,0,807:79373903	0	0	10	11
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.019	B	0.031	B	0.000	D	1.000	D	0.325	N	-1.0	T	-0.993	T	0.086	T	0.404	1.590	11.27	3.95	2.415	0.944	7.951	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,6,0:29:99:0|1:79373903_A_G:145,0,807,213,825,1039:79373903	4	0	7	9
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.682	P	0.361	B	0.000	D	1.000	D	0.83	L	-1.06	T	-0.935	T	0.119	T	0.428	2.268	13.54	3.95	2.415	0.944	7.951	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,6,0:29:99:0|1:79373903_A_G:145,0,807,213,825,1039:79373903	4	0	7	9
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,29,0,0:58:99:.:.:982,0,1031,1077,1118,2195,1077,1118,2195,2195	1	10	5	0
chr19	507647	507647	G	-	exonic	TPGS1	.	frameshift deletion	TPGS1:NM_033513:exon1:c.141delG:p.M47Ifs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1095.94	38	chr19	507646	.	TG	T	1095.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.680e-01;DP=797;ExcessHet=0.0000;FS=2.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.956;SOR=0.642	GT:AD:DP:GQ:PL	0/1:54,34:88:99:1110,0,1915	20	0	1	0
chr19	1057344	1057344	G	A	exonic	ABCA7	.	nonsynonymous SNV	ABCA7:NM_019112:exon35:c.G4795A:p.V1599M,	.	.	411	1099	12	0	0	12	0.00542986	.	.	486205	not_provided|ABCA7-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	.	.	0.761	N	2.15	M	-2.27	D	0.132	D	0.660	D	0.502	2.793	15.30	3.65	1.877	0.904	8.156	0.080	0.0995254825762	0.0027	0.00179712	0.0031	0.0005	0.0021	0	0.0070	0.0041	0.0044	0.0012	0.0031112	481	154602	rs117187003	0.0033	0.0033	0.0032	0.0034	0.0168	0.0032	0.0032	0.0141	0.0131	0.0008	0.0025	0.0031	0	0.0079	0.0168	0.0035	0.0027	0.0011	0.0037	0.0037	0.0037	0.0037	0.0041	0.0034	0.0033	0.0037	0.0035	0.0004	0.1022	0.0041	0.0029	0	0.0082	0.0102	0.0041	0.0033	0.0010	0.001	0.78490	D	0.054	0.47828	T	0.987	0.61912	D	0.932	0.66722	D	.	.	.	.	0.76055	0.29543	N	2.69	0.78713	M	-2.27	0.87433	D	-2.37	0.52289	N	0.557	0.69037	0.132	0.84750	D	0.660	0.88182	D	9	0.010641903	0.00236	T	0.099525	0.77123	D	0.576	0.82855	.	.	0.873717984576	0.87249	0.6994048819914612	0.69881	0.528900676106	0.50453	0.586454153061	0.50994	T	0.505722	0.82423	D	-0.207642	0.19713	T	-0.0659129	0.65917	T	0.0375366518672246	0.03249	T	0.954405	0.83814	D	0.45816505	0.64557	0.6654882	0.80387	0.4785998	0.65816	0.6030397	0.76932	-7.684	0.58896	D	.	.	0.213	0.44319	B	.;.;.	.;.;.	4.711281	0.75686	26.4	0.99694698335050624	0.80180	0.26837	0.23107	N	ALL	0.159258	0.28503	N	0.465227464636032	0.65071	4.776725	0.38407411922275	0.60584	4.247448	0.999999900657339	0.74766	0.77792	0.99625	0	0.854111	0.99885	0	0.635938	0.45252	0	0.629945	0.49285	0	.	.	3.65	3.65	0.40985	1.357000	0.33694	5.101000	0.47435	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1137:0.0:0.8863:0.0	8.156	0.30330	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	0.02381	1003.98	37	chr19	1057344	.	G	A	1003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.150e-01;DP=838;ExcessHet=0.0000;FS=1.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.07;ReadPosRankSum=0.513;SOR=0.630	GT:AD:DP:GQ:PL	0/1:89,53:142:99:1018,0,2204	20	0	1	0
chr19	2438531	2438531	G	T	exonic	LMNB2	.	nonsynonymous SNV	LMNB2:NM_032737:exon3:c.C402A:p.S134R,	.	.	412	1106	3	0	1	4	0.0013544	0.0002	0.038	1494202	Progressive_myoclonic_epilepsy_type_9|Lipodystrophy,_partial,_acquired,_susceptibility_to|not_provided	MONDO:MONDO:0014685,MedGen:C4225289,OMIM:616540,Orphanet:457265|MONDO:MONDO:0100476,MedGen:C3887501,OMIM:608709|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.012	B	0.000	D	0.999	D	0.04	N	.	.	-1.039	T	0.065	T	0.324	-0.106	3.483	3.3	0.798	0.697	11.393	0.043	.	.	.	3.534e-05	0	0	0	0	6.431e-05	0	0	4.53e-05	7	154602	rs148213507	1.649e-05	1.915e-05	1.776e-05	1.521e-05	0.0002	1.116e-05	9.38e-06	1.586e-05	9.32e-06	0	0	0	2.527e-05	0	0.0002	1.353e-05	4.998e-05	4.65e-05	6.571e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.422e-05	0	0	0	0	0.001	0.78490	D	1.0	0.01155	T	.	.	.	.	.	.	0.000075	0.52346	D	0.215158	0.999128	0.46125	D	.	.	.	-2.26	0.87352	D	-2.74	0.58248	D	0.425	0.46462	-1.0391	0.17587	T	0.065	0.26983	T	9	0.20606998	0.36855	T	0.028083	0.50815	D	0.043	0.11576	.	.	0.546031525495	0.54257	0.060369722529905384	0.05976	0.691787299004	0.60617	0.485085368156	0.36758	T	0.385752	0.74707	T	-0.0814108	0.39486	T	-0.218806	0.52851	T	0.237863541346745	0.22320	T	0.675332	0.28377	T	0.07628878	0.17243	0.15875661	0.37059	0.07628878	0.17242	0.15875661	0.37058	-2.273	0.04410	T	.	.	0.466	0.62980	A	.	.	1.759169	0.22376	15.59	0.59937449830155853	0.06343	0.88525	0.48493	D	AEFDBCI	0.494679	0.53037	N	-0.660219454607966	0.17163	0.8808452	-0.470445420419375	0.22972	1.250447	0.0026118677573989	0.09575	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.38	3.3	0.36912	0.897000	0.28022	0.497000	0.18957	-0.106000	0.15538	0.955000	0.33325	0.581000	0.25622	0.651000	0.32720	0.0919:0.0:0.9081:0.0	11.393	0.49069	970	0.06235	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	920.98	34	chr19	2438531	.	G	T	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.505;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-2.048e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:48,36:84:99:935,0,1259	20	0	1	0
chr19	4268590	4268590	C	T	exonic	YJU2	.	nonsynonymous SNV	YJU2:NM_018074:exon8:c.C866T:p.P289L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.004	B	0.002	B	0.007	N	1.000	N	1.04	L	1.58	T	-1.046	T	0.048	T	0.097	0.077	4.415	-6.67	-0.846	-0.865	6.407	0.006	0.00587993593899	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038239455	1.234e-05	1.368e-05	8.185e-06	1.654e-05	3.493e-05	7.71e-06	6.36e-06	9.28e-06	4.57e-06	2.996e-05	0	0	0	0	0	1.081e-05	3.319e-05	3.493e-05	2.627e-05	2.626e-05	1.284e-05	4.034e-05	5.878e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.878e-05	0	0	0.192	0.20988	T	0.17	0.30436	T	0.004	0.12183	B	0.002	0.06944	B	0.006988	0.01149	N	2.948320	1	0.08975	N	.	.	.	1.58	0.29085	T	-1.0	0.26422	N	0.062	0.03392	-1.0465	0.15389	T	0.048	0.20592	T	10	0.063417435	0.08259	T	0.00588	0.15310	T	0.006	0.00375	0.377	0.39156	0.110078149338	0.10416	0.2908656067395222	0.28999	0.0879923635883	0.09938	0.330812811852	0.15057	T	0.03617	0.24001	T	-0.328328	0.06238	T	-0.709397	0.05326	T	0.0259711164981127	0.01402	T	0.361564	0.08348	T	0.03382224	0.03677	0.03081227	0.01585	0.03382224	0.03677	0.03081227	0.01585	-4.083	0.25039	T	.	.	0.064	0.01762	B	.	.	-0.326894	0.02501	0.294	0.44916794460638471	0.03488	0.02365	0.06735	N	AEFDBCI	0.034856	0.04391	N	-1.54269945397669	0.01577	0.06892698	-1.6336256909375	0.01463	0.06616966	0.993346581677189	0.33179	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	-6.67	0.01618	-0.836000	0.04489	-3.122000	0.03043	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4281:0.231:0.3409	6.407	0.20873	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2073.98	39	chr19	4268590	.	C	T	2073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.543;DP=974;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.459;SOR=0.685	GT:AD:DP:GQ:PL	0/1:77,84:161:99:2088,0,1797	20	0	1	0
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,370,0:370:99:.:.:11914,1109,0,11914,1109,11914	0	10	4	6
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	139194.31	100	chr19	4511713	.	T	C,*	139194.31	.	AC=22,1;AF=0.846,0.038;AN=26;BaseQRankSum=1.87;DP=8565;ExcessHet=0.0976;FS=2.619;InbreedingCoeff=0.3015;MLEAC=31,1;MLEAF=1.00,0.038;MQ=56.56;MQRankSum=-1.881e+00;QD=32.62;ReadPosRankSum=-5.445e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,257,0:257:99:1|1:4511713_T_C:11345,774,0,11345,774,11345:4511713	0	9	3	8
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	139161.99	105	chr19	4511718	.	T	*,C	139161.99	.	AC=1,18;AF=0.038,0.692;AN=26;BaseQRankSum=2.11;DP=8846;ExcessHet=2.2649;FS=2.542;InbreedingCoeff=-0.0055;MLEAC=1,25;MLEAF=0.038,0.962;MQ=56.65;MQRankSum=-5.673e+00;QD=32.12;ReadPosRankSum=0.575;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,273:273:99:1|1:4511713_T_C:12098,12098,12098,821,821,0:4511713	0	0	0	8
chr19	7383105	7383105	G	A	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001367823:exon10:c.G869A:p.R290Q,	.	.	492	1027	3	0	0	3	0.00145843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01877	0.0068	0	0.0319	0.1094	0	0.0011	0	0	0.0024126	373	154602	rs147885114	0.0026	0.0021	0.0027	0.0026	0.0895	0.0026	0.0025	0.0842	0.0820	0.0008	0.0895	0.0010	0.0647	4.63e-05	0.0007	0.0001	0.0052	0.0018	0.0097	0.0097	0.0080	0.0115	0.0736	0.0093	0.0091	0.0701	0.0686	0.0017	0	0.0736	0.0017	0.0434	0	0	0.0003	0.0057	0.0033	.	.	.	0.18	0.29442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0020921528	0.00030	T	.	.	.	.	.	.	.	0.178374595973	0.17440	.	.	.	.	.	.	.	.	.	.	-0.649328	0.00073	T	-0.655234	0.08592	T	.	.	.	0.739426	0.35812	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12323	B	.	.	1.772788	0.22541	15.66	0.99178214782613017	0.54585	0.01684	0.05373	N	AEFBI	0.063734	0.12334	N	.	.	.	.	.	.	0.00752835391992406	0.11486	0.648878	0.45929	0	0.550933	0.16991	0	0.596394	0.31383	0	0.542086	0.14980	0	.	.	5.03	-2.84	0.05408	-0.168000	0.09914	0.129000	0.15021	0.676000	0.76740	0.044000	0.21163	0.000000	0.08366	0.335000	0.25317	0.4216:0.1358:0.4426:0.0	5.444	0.15824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2370.11	35	chr19	7383105	.	G	A	2370.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.04;DP=961;ExcessHet=0.1072;FS=0.555;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=1.11;SOR=0.768	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1294,0,1209	19	0	2	0
chr19	7870294	7870294	C	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.G2950A:p.A984T,	.	.	340	1178	4	0	0	4	0.00169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.313	B	0.046	B	.	.	1.000	N	2.045	M	.	.	-1.039	T	0.061	T	0.176	0.072	4.390	0.722	0.256	-0.198	5.553	0.031	.	.	0.00319489	0.0133	0	0	0	0	0.02	.	0	0.0004722	73	154602	rs138896713	0.0082	0.0071	0.0082	0.0082	0.0093	0.0081	0.0080	0.0092	0.0091	0.0010	0.0048	0.0074	0	0.0008	0.0007	0.0093	0.0069	0	0.0043	0.0053	0.0048	0.0039	0.0066	0.0040	0.0039	0.0060	0.0058	0.0014	0	0.0042	0.0060	0	0.0002	0.0063	0.0066	0.0053	0	.	.	.	0.341	0.17964	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.049	0.02088	-1.0388	0.17678	T	0.061	0.25310	T	8	0.003385067	0.00059	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.1120410950803723	0.11133	.	.	0.549222052097	0.45748	T	0.020862	0.16347	T	-0.524545	0.00414	T	-0.515861	0.20715	T	0.0226574434323909	0.00983	T	0.349965	0.07784	T	0.06791743	0.14750	0.06589508	0.13421	0.06791743	0.14750	0.06589508	0.13420	-6.932	0.53536	T	.	.	0.143	0.31583	B	.	.	0.500233	0.08693	5.466	0.37704475013879407	0.02500	0.01741	0.05494	N	ALL	0.030969	0.03219	N	-0.907647495592968	0.10662	0.5105892	-1.038936131596	0.08939	0.4420422	0.999896565493851	0.45129	0.839682	0.99964	0	0.607795	0.50457	0	0.736553	0.94036	0	0.562822	0.20929	0	.	.	3.03	0.722	0.17379	-0.575000	0.05953	-2.220000	0.04039	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6997:0.0:0.3003	5.553	0.16388	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05	1786.8	39	chr19	7870294	.	C	T	1786.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-9.080e-01;DP=992;ExcessHet=0.1072;FS=2.801;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.160;SOR=0.694	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1004,0,1079	18	0	2	1
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	0.996	N	0	N	.	.	-0.998	T	0.035	T	0.085	0.963	8.927	0.534	0.295	1.986	5.982	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	769.34	89	chr19	7871678	.	G	C	769.34	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-3.686e+00;DP=1708;ExcessHet=6.1002;FS=184.238;InbreedingCoeff=-0.3275;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=0.814;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,13:57:99:.:.:142,0,958	10	0	10	1
chr19	7871679	7871679	T	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.A1565G:p.D522G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	.	.	.	.	.	.	1.000	D	0	N	.	.	-1.102	T	0.070	T	0.132	1.195	9.854	1.35	0.508	-0.021	8.062	0.017	0.0117926730478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.923e-05	0.0022	3.806e-05	4.042e-05	6.459e-05	3.06e-05	2.775e-05	3.664e-05	3.306e-05	6.459e-05	0	0	0	0	0	4.763e-05	1.762e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.21411	T	.	.	.	.	.	.	.	.	.	.	0.999236	0.21473	N	.	.	.	.	.	.	.	.	.	0.157	0.16308	-1.1021	0.03846	T	0.070	0.28511	T	6	0.064407915	0.08537	T	0.011793	0.29763	T	.	.	.	.	0.0297737177859	0.01360	0.13029884274010206	0.12954	.	.	0.371050000191	0.20983	T	0.014	0.12071	T	-0.203166	0.20349	T	-0.529611	0.19324	T	0.0422498770598029	0.04101	T	0.416558	0.10945	T	0.0437944	0.06888	0.05439061	0.09347	0.0437944	0.06888	0.05439061	0.09347	-2.886	0.09004	T	.	.	0.301	0.53087	B	.	.	2.067708	0.26296	17.07	0.72018066111299484	0.09827	0.06998	0.13024	N	ALL	.	.	.	-0.848398345689186	0.12089	0.5871903	-0.929969797100409	0.11389	0.5799016	0.999999999887838	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	1.35	0.21078	0.356000	0.19918	-0.015000	0.13005	0.597000	0.34315	0.062000	0.21832	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.5332:0.4668	8.062	0.29799	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	53.12	42	chr19	7871679	.	T	C	53.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.234e+00;DP=1130;ExcessHet=0.1072;FS=108.449;InbreedingCoeff=-0.0505;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.41;ReadPosRankSum=0.137;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,9:63:23:.:.:23,0,1885	19	0	2	0
chr19	7872929	7872929	A	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon4:c.T407A:p.I136N,	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	N	0	N	.	.	-1.020	T	0.031	T	0.102	-0.445	1.934	-0.959	-0.030	0.779	5.347	0.014	.	.	0.00279553	0.0024	0.0072	0	0	0	0.0070	0	0	0.0012354	191	154602	rs147331962	0.0074	0.0071	0.0075	0.0074	0.0088	0.0073	0.0073	0.0087	0.0086	0.0009	0.0039	0.0077	0	0.0009	0.0007	0.0088	0.0063	3.786e-05	0.0046	0.0046	0.0052	0.0041	0.0075	0.0043	0.0042	0.0070	0.0068	0.0016	0	0.0048	0.0081	0	0.0003	0.0136	0.0075	0.0090	0	.	.	.	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.364	0.40565	-1.0195	0.23877	T	0.031	0.13418	T	6	0.005706668	0.00127	T	.	.	.	.	.	.	.	0.252681307341	0.24864	0.036222337537804586	0.03569	.	.	0.429368138313	0.29121	T	0.008611	0.07893	T	-0.581699	0.00188	T	-0.602373	0.12613	T	0.00177726721740528	0.00018	T	0.485551	0.14815	T	0.065106794	0.13880	0.09458222	0.22395	0.065106794	0.13880	0.09458222	0.22394	-2.89	0.09044	T	.	.	0.360	0.57199	A	.	.	1.697124	0.21620	15.28	0.53742489929016324	0.04999	0.03726	0.09019	N	AEFDBCI	0.074310	0.14891	N	-0.974746795697728	0.09145	0.4316298	-1.09056517935586	0.07885	0.3853692	0.99932338971388	0.39149	0.766844	0.99359	0	0.563428	0.19063	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	2.8	-0.959	0.09816	0.738000	0.25826	2.043000	0.30309	-0.267000	0.06790	0.001000	0.13787	0.067000	0.22148	0.072000	0.16771	0.4252:0.0:0.5748:0.0	5.347	0.15320	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1892.11	45	chr19	7872929	.	A	T	1892.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.100e-02;DP=854;ExcessHet=0.1072;FS=3.151;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.173e+00;SOR=0.450	GT:AD:DP:GQ:PL	0/1:29,34:63:99:887,0,827	19	0	2	0
chr19	7916913	7916913	-	CGC	exonic	TGFBR3L	.	nonframeshift insertion	TGFBR3L:NM_001195259:exon2:c.568_569insCGC:p.P197_S198insP,	.	.	368	1150	1	1	2	5	0.00130265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs532844274	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0004	0.0007	0.0003	0	0.0003	0.0001	0.0006	0.0002	0.0003	0.0002	0.0005	0.0005	0.0005	0.0004	0.0014	0.0004	0.0004	0.0010	0.0008	0.0006	0	0.0014	0	0	0	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	68.07	22	chr19	7916913	.	A	ACGC	68.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.842;DP=397;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-5.990e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	20	0	1	0
chr19	8888076	8888076	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.C40831T:p.P13611S,	.	.	418	1044	60	0	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.992	D	0.979	D	.	.	.	.	.	.	4.69	T	-1.012	T	0.008	T	0.059	-1.220	0.063	0.949	-0.089	-0.973	3.025	0.062	0.00233003514531	.	.	3.616e-05	0	0.0003	0	0	3.289e-05	0	0	1.29e-05	2	154602	rs746956602	7.602e-06	9.577e-06	5.489e-06	9.747e-06	4.683e-05	4.08e-06	2.98e-06	7.76e-06	2.9e-06	0	4.683e-05	0	0	0	0	8.147e-06	0	0	1.999e-05	6.604e-05	1.302e-05	2.729e-05	4.444e-05	5.31e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.444e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.69	0.01694	T	0.77	0.01949	N	0.055	0.02658	-1.0125	0.26133	T	0.008	0.02720	T	7	0.042926937	0.03089	T	0.00233	0.04507	T	0.062	0.17934	.	.	0.0551355673512	0.04727	0.1259688714579419	0.12522	.	.	0.296296924353	0.09851	T	.	.	.	-0.398369	0.02373	T	-0.810006	0.01665	T	0.015891833190803	0.00374	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-1.842	0.02637	T	.	.	0.054	0.00321	B	.	.	0.192461	0.05785	2.226	0.4151298757620755	0.03000	0.00011	0.00159	N	AEFBI	0.010308	0.00072	N	-1.14269125215029	0.05901	0.2702541	-1.32095895774873	0.04160	0.1956212	9.77839227391231E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	0.949	0.18691	-0.098000	0.10993	.	.	-0.176000	0.10722	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.7048:0.0:0.2952:0.0	3.025	0.05719	952	0.10565	.	.	.	.	.	.	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	0.1562	122.45	92	chr19	8888076	.	G	A	122.45	.	AC=5;AF=0.156;AN=32;BaseQRankSum=3.74;DP=1860;ExcessHet=1.1607;FS=1.103;InbreedingCoeff=-0.2118;MLEAC=5;MLEAF=0.156;MQ=59.49;MQRankSum=-7.474e+00;QD=0.28;ReadPosRankSum=-6.410e-01;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,6:86:11:.:.:11,0,3330	11	0	5	5
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I,	.	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.984	D	0.964	D	.	.	.	.	0.49	N	2.21	T	-1.029	T	0.047	T	0.503	2.024	12.72	1.25	0.783	0.218	4.503	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2778	8877.76	382	chr19	8888745	.	G	A,C	8877.76	.	AC=6,4;AF=0.167,0.111;AN=36;BaseQRankSum=-3.070e-01;DP=10156;ExcessHet=6.1002;FS=0.787;InbreedingCoeff=-0.3771;MLEAC=7,4;MLEAF=0.194,0.111;MQ=56.21;MQRankSum=-1.029e+01;QD=1.61;ReadPosRankSum=-1.286e+00;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:466,37,37:540:87:.:.:87,0,19819,160,15149,15904	8	0	6	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P,	.	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.964	D	.	.	.	.	1.04	L	1.83	T	-0.975	T	0.078	T	0.685	2.193	13.29	1.26	0.083	0.610	2.783	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	3176.11	382	chr19	8888746	.	T	G	3176.11	.	AC=7;AF=0.194;AN=36;BaseQRankSum=0.772;DP=10365;ExcessHet=2.5830;FS=7.108;InbreedingCoeff=-0.2519;MLEAC=8;MLEAF=0.222;MQ=55.81;MQRankSum=-1.024e+01;QD=0.81;ReadPosRankSum=-3.634e+00;SOR=1.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:507,37:544:13:.:.:13,0,21139	11	0	7	3
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I,	.	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.964	D	.	.	.	.	2.79	M	1.22	T	-0.601	T	0.206	T	0.319	0.402	6.184	0.756	0.311	2.938	8.036	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5532.55	398	chr19	8888763	.	G	A	5532.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-8.400e-01;DP=10822;ExcessHet=2.5830;FS=10.808;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=55.93;MQRankSum=-8.753e+00;QD=1.32;ReadPosRankSum=-9.860e-01;SOR=1.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:553,54:607:99:.:.:603,0,23027	14	0	7	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:284,91,44,47:482:99:.:.:3824,0,11926,1952,10359,14015,2851,10358,12310,15735	0	0	17	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1541.22	352	chr19	8888826	.	T	*,TCCGA	1541.22	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=2.89;DP=8436;ExcessHet=43.6797;FS=10.909;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.52;MQRankSum=-9.389e+00;QD=0.19;ReadPosRankSum=0.933;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,87,44:472:99:0|1:8888826_T_*:2631,0,14054,1809,12475,15996:8888826	1	0	19	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E,	.	.	417	1065	39	1	0	41	0.0188853	.	.	3221801	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.982	D	0.455	P	.	.	.	.	0.85	L	4.58	T	-0.922	T	0.007	T	0.152	-0.449	1.920	0.009	-0.043	-3.145	3.969	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1154.03	47	chr19	8900001	.	C	T	1154.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.290e-01;DP=2853;ExcessHet=1.7912;FS=1.022;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.31;MQRankSum=-1.443e+01;QD=0.76;ReadPosRankSum=1.80;SOR=0.913	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,22:286:99:0|1:8900000_C_T:109,0,10999:8900000	15	0	6	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H,	.	.	419	985	117	1	0	119	0.0569651	.	.	3206446	MUC16-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.289	B	0.104	B	.	.	.	.	0.85	L	4.62	T	-0.937	T	0.005	T	0.187	-0.708	0.946	-2.32	-0.921	-3.230	2.997	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	2350.15	47	chr19	8900017	.	C	G	2350.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.351;DP=3884;ExcessHet=11.8493;FS=0.993;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=59.12;MQRankSum=-1.468e+01;QD=0.70;ReadPosRankSum=1.95;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,22:290:99:0|1:8900000_C_T:101,0,11167:8900000	8	0	13	0
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S,	.	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-2.085	N	4.52	T	-0.923	T	0.002	T	0.054	-0.265	2.727	0.419	-0.350	0.140	4.268	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07895	430.29	122	chr19	8906323	.	G	A	430.29	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.900e-01;DP=2031;ExcessHet=0.3300;FS=7.018;InbreedingCoeff=-0.1136;MLEAC=3;MLEAF=0.079;MQ=58.84;MQRankSum=-1.098e+01;QD=1.07;ReadPosRankSum=-7.140e-01;SOR=1.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,9:122:38:0|1:8906306_G_A:38,0,4718:8906306	16	0	3	2
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S,	.	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.905	N	4.5	T	-0.830	T	0.002	T	0.097	-1.387	0.024	-2.96	-3.727	-5.812	7.234	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.08333	422.15	125	chr19	8906325	.	A	C	422.15	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-6.810e-01;DP=2100;ExcessHet=0.3300;FS=5.370;InbreedingCoeff=-0.1238;MLEAC=3;MLEAF=0.083;MQ=58.89;MQRankSum=-1.169e+01;QD=1.04;ReadPosRankSum=-7.480e-01;SOR=1.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,9:122:38:0|1:8906306_G_A:38,0,4718:8906306	15	0	3	3
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R,	.	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.2	N	1.56	T	-1.012	T	0.021	T	0.117	-0.969	0.308	-2.96	-2.363	-1.255	4.013	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1053	676.79	128	chr19	8906329	.	A	G	676.79	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.217e+00;DP=2113;ExcessHet=0.6776;FS=9.405;InbreedingCoeff=-0.1354;MLEAC=4;MLEAF=0.105;MQ=58.89;MQRankSum=-1.215e+01;QD=1.15;ReadPosRankSum=-1.056e+00;SOR=1.361	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,12:126:99:0|1:8906306_G_A:161,0,4751:8906306	15	0	4	2
chr19	9980853	9980853	G	A	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon34:c.C2512T:p.R838C,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2443139	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.695	M	-3.31	D	0.836	D	0.878	D	0.651	1.946	12.46	2.15	0.283	2.549	11.032	0.783	0.568561525278	0.0002	.	8.699e-05	0.0002	0	0	0	0.0001	0	6.697e-05	5.82e-05	9	154602	rs145443545	4.802e-05	4.994e-05	5.459e-05	4.138e-05	0.0005	3.871e-05	3.55e-05	0.0001	7.773e-05	6.009e-05	2.259e-05	0	0	0	0.0005	5.044e-05	8.308e-05	3.501e-05	0.0001	0.0001	0.0001	9.417e-05	0.0002	6.516e-05	5.327e-05	0.0001	9.929e-05	0.0002	0	0	0	0	0	0	8.828e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	D	0.000000	1	0.81001	D	2.59	0.75718	M	-3.31	0.93835	D	-7.01	0.93764	D	0.729	0.73015	0.836	0.94858	D	0.878	0.95951	D	10	0.94948363	0.94281	D	0.568562	0.96090	D	0.783	0.92787	.	.	0.8566438679	0.85526	0.36247351244803744	0.36161	0.142806008702	0.16110	0.617283403873	0.55345	T	0.417369	0.77004	T	0.0649516	0.60229	T	0.103831	0.77161	D	0.605262398719788	0.36609	D	0.978136	0.92287	D	0.7826594	0.82817	0.5928231	0.76368	0.7826594	0.82819	0.5928231	0.76369	-11.17	0.80582	D	.	.	0.192	0.41109	B	.	.	3.869543	0.56167	23.7	0.99130296484611524	0.53249	0.95130	0.63548	D	AEFDBI	0.564884	0.57149	D	0.315821900130515	0.56959	3.861778	0.171472736630509	0.48292	3.046993	0.426470940954278	0.20334	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.37	2.15	0.26590	1.405000	0.34243	.	.	0.526000	0.24426	0.628000	0.27982	1.000000	0.68203	0.661000	0.32996	0.0:0.0:0.6642:0.3358	11.032	0.46998	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	709.98	38	chr19	9980853	.	G	A	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=0.781;SOR=0.685	GT:AD:DP:GQ:PL	0/1:20,23:43:99:724,0,574	20	0	1	0
chr19	10093793	10093793	G	C	exonic	ANGPTL6	.	stopgain	ANGPTL6:NM_001321411:exon4:c.C851G:p.S284X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	0.606	N	1.000	A	.	.	.	.	.	.	.	.	.	4.683	25.9	2.45	0.565	2.661	3.864	.	.	0.0007	.	0.0004	0	0.0003	0	0	0.0006	0	0.0004	0.0003428	53	154602	rs201622589	0.0006	0.0006	0.0006	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	5.974e-05	0.0002	0	0	5.632e-05	0.0002	0.0008	0.0006	0.0006	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0003	0.0007	0.0007	0.0001	0	0	0	0	0.0003	0.0032	0.0009	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.605511	0.10916	N	0.814561	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.72	0.72209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0716706	0.61052	D	0.305546	0.88452	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive;Recessive|Recessive	High|High;High|High	8.039473	0.97115	37	0.98929737912966609	0.48732	0.85453	0.44587	D	ALL	0.184969	0.31230	N	0.427027334007894	0.62913	4.515319	0.106298636989398	0.44870	2.760491	0.999965037895043	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.57	2.45	0.28953	4.661000	0.61213	6.636000	0.56168	0.618000	0.50648	1.000000	0.71638	0.999000	0.35428	0.498000	0.28972	0.1893:0.0:0.5191:0.2916	3.864	0.08517	894	0.26265	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2123.98	33	chr19	10093793	.	G	C	2123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.370;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.945;SOR=0.743	GT:AD:DP:GQ:PL	0/1:72,80:152:99:2138,0,1853	20	0	1	0
chr19	10252604	10252604	C	T	exonic	MRPL4	.	nonsynonymous SNV	MRPL4:NM_015956:exon3:c.C178T:p.R60C	.	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.864	P	0.010	N	1.000	N	1.5	L	.	.	-1.072	T	0.080	T	0.356	3.573	18.21	1.37	0.650	0.602	3.669	0.124	0.0172132972635	0.0036	0.00179712	0.0035	0.0007	0.0008	0	0.0040	0.0049	0.0011	0.0034	0.0034993	541	154602	rs45520838	0.0037	0.0037	0.0037	0.0038	0.0095	0.0037	0.0036	0.0075	0.0068	0.0007	0.0010	0.0002	2.52e-05	0.0032	0.0095	0.0042	0.0033	0.0041	0.0031	0.0031	0.0033	0.0028	0.0050	0.0028	0.0027	0.0046	0.0044	0.0009	0	0.0015	0	0	0.0041	0.0034	0.0050	0.0019	0.0033	0.032	0.44694	D	0.053	0.70582	T	0.989	0.73220	D	0.613	0.61462	P	0.010366	0.29953	N	0.341831	1	0.08975	N	1.61	0.41143	L	.	.	.	-2.31	0.51811	N	0.464	0.51494	-1.0718	0.09022	T	0.080	0.31735	T	9	0.008611172	0.00195	T	0.017213	0.38815	T	0.124	0.34239	.	.	0.583897100485	0.58062	0.4706424267449133	0.46983	1.03653925139	0.75629	0.61252951622	0.54674	T	0.029491	0.24760	T	-0.420644	0.01694	T	-0.374252	0.36393	T	0.0215351933068651	0.00857	T	0.813919	0.47860	T	0.29041508	0.52032	0.15465458	0.36287	0.29041508	0.52032	0.15465458	0.36286	-5.716	0.46530	T	.	.	0.103	0.26669	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.137151	0.61958	24.4	0.99674703710335233	0.78846	0.05532	0.11425	N	AEFDBHCIJ	0.195435	0.32247	N	-0.414936604442147	0.24946	1.350591	-0.591908659756271	0.19703	1.058312	0.99999936486214	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.89	1.37	0.21200	0.431000	0.21163	2.135000	0.30806	-0.991000	0.01849	0.005000	0.17040	1.000000	0.68203	0.007000	0.07825	0.3659:0.443:0.0:0.1911	3.669	0.07802	546	0.72524	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3767.11	35	chr19	10252604	.	C	T	3767.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.065;DP=994;ExcessHet=0.1072;FS=9.682;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.21;SOR=0.957	GT:AD:DP:GQ:PL	0/1:76,83:159:99:2109,0,1813	19	0	2	0
chr19	10459733	10459733	G	A	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_006202:exon5:c.G622A:p.V208I	.	.	.	.	.	.	.	.	.	.	.	2279378	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.977	D	0.000	D	1.000	D	2.125	M	-0.43	T	-0.079	T	0.456	T	0.42	3.594	18.30	4.75	2.480	6.368	15.266	0.212	0.0475897646642	7.7e-05	0.000199681	6.745e-05	0	0	0	0	1.523e-05	0	0.0005	5.82e-05	9	154602	rs142235107	4.038e-05	4.036e-05	2.451e-05	5.642e-05	0.0005	3.181e-05	2.912e-05	0.0003	0.0003	0	0	0	0	0	0.0002	1.53e-05	3.314e-05	0.0005	2.626e-05	2.624e-05	1.285e-05	4.028e-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	0.054	0.39097	T	0.066	0.48080	T	0.718	0.77913	P	0.336	0.73820	B	0.000001	0.84330	D	0.000000	0.999986	0.58761	D	2.145	0.60081	M	-0.43	0.69657	T	-0.82	0.22508	N	0.57	0.59308	-0.0787	0.80582	T	0.456	0.78808	T	10	0.16647822	0.31087	T	0.04759	0.62988	D	0.212	0.50341	.	.	0.538494540062	0.53500	.	.	.	.	0.734068214893	0.72101	T	0.153741	0.49472	T	-0.213336	0.18911	T	-0.20796	0.53891	T	0.176077961921692	0.18984	T	0.955704	0.83186	D	0.4807655	0.65947	0.25147405	0.50758	0.4807655	0.65947	0.25147405	0.50757	-13.121	0.90940	D	.	.	0.116	0.26731	B	.;.;.;.;.	.;.;.;.;.	4.536314	0.71268	25.6	0.9980637308191197	0.89085	0.92662	0.56241	D	AEFDBHCI	0.773202	0.70729	D	0.401077886859981	0.61482	4.349894	0.45873748620924	0.65281	4.803892	0.845450215385615	0.24945	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.75	4.75	0.59954	6.677000	0.74337	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.266	0.73364	730	0.54327	.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2452.98	40	chr19	10459733	.	G	A	2452.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=907;ExcessHet=0.0000;FS=4.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-1.087e+00;SOR=0.826	GT:AD:DP:GQ:PL	0/1:95,102:197:99:2467,0,2158	20	0	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.235	H	-0.44	T	0.121	D	0.587	D	0.498	3.271	16.98	0.744	0.212	0.433	8.708	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	209.78	55	chr19	11405406	.	G	C	209.78	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-1.596e+00;DP=1235;ExcessHet=1.7912;FS=66.458;InbreedingCoeff=-0.2677;MLEAC=6;MLEAF=0.200;MQ=59.99;MQRankSum=0.00;QD=0.65;ReadPosRankSum=0.788;SOR=8.235	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,6:42:96:0|1:11405406_G_C:96,0,1395:11405406	9	0	6	6
chr19	11405407	11405407	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1016G:p.N339S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	3.195	M	-0.42	T	0.276	D	0.556	D	0.448	3.897	19.81	5.26	1.991	7.387	14.148	0.767	0.11765181501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46910	D	0.045	0.49942	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-0.42	0.69536	T	-4.51	0.78222	D	0.926	0.93018	0.276	0.87164	D	0.556	0.83798	D	10	0.95189494	0.94530	D	0.117652	0.79749	D	0.767	0.92129	0.82	0.93328	0.643127189037	0.64018	0.5853249714877617	0.58462	0.473787794825	0.46581	0.688574552536	0.65501	T	0.388278	0.74899	T	0.0804978	0.62098	D	-0.122147	0.61625	T	0.997053503990173	0.90665	D	0.950605	0.81072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.78104	P	.;.	.;.	4.976953	0.82408	27.8	0.998584207163148	0.93729	0.98131	0.79864	D	AEFDBI	0.948277	0.95973	D	0.784910675588042	0.85151	8.491899	0.694214424071738	0.81937	7.645418	0.999407243211158	0.39524	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.0:0.0:0.0:1.0	14.148	0.64894	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1389	146.75	66	chr19	11405407	.	T	C	146.75	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.522e+00;DP=1164;ExcessHet=1.1607;FS=60.944;InbreedingCoeff=-0.1794;MLEAC=5;MLEAF=0.139;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=0.701;SOR=6.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,6:42:96:0|1:11405406_G_C:96,0,1395:11405406	13	0	5	3
chr19	11405408	11405408	T	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.A1015G:p.N339D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.685	H	-0.18	T	0.343	D	0.548	D	0.463	4.157	21.5	4.94	1.854	7.387	13.594	0.690	0.168257505331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.008	0.67890	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	-0.18	0.65747	T	-4.65	0.79399	D	0.96	0.96984	0.343	0.88221	D	0.548	0.83393	D	10	0.9538684	0.94736	D	0.168258	0.84641	D	0.769	0.92212	0.814	0.92925	0.613675013168	0.61056	0.6608127146749349	0.66018	0.561778919436	0.52677	0.76652097702	0.76902	T	0.327982	0.69844	T	0.0801504	0.62059	D	-0.122646	0.61584	T	0.998850345611572	0.95376	D	0.950205	0.80929	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.973	0.89808	P	.;.	.;.	5.124242	0.85718	28.7	0.99721545031508141	0.82054	0.98097	0.79572	D	AEFDBI	0.950693	0.96457	D	0.813542536876161	0.86945	9.051328	0.690744031826607	0.81677	7.582605	0.998160086688684	0.36515	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	7.669000	0.82880	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.658000	0.32913	0.0:0.0:0.0:1.0	13.594	0.61444	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	113.21	62	chr19	11405408	.	T	C	113.21	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.258e+00;DP=1105;ExcessHet=0.3300;FS=33.946;InbreedingCoeff=-0.0748;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=0.638;SOR=5.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,6:42:96:0|1:11405406_G_C:96,0,1395:11405406	18	0	3	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	0/2:69,2,56:127:99:2053,2206,5299,0,2711,2568	2	0	2	0
chr19	12350857	12350857	C	G	exonic	ZNF442	.	nonsynonymous SNV	ZNF442:NM_001363774:exon3:c.G521C:p.C174S	.	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.0	B	.	.	1.000	N	-2.055	N	2.57	T	-0.930	T	0.007	T	0.035	-1.892	0.008	-1.66	-3.099	-1.299	4.805	0.058	0.000822732096047	.	.	7.414e-05	0	0	0	0	4.495e-05	0.0011	0.0003	6.47e-05	10	154602	rs757755988	5.951e-05	5.951e-05	5.037e-05	6.876e-05	0.0019	4.883e-05	4.561e-05	0.0011	0.0008	2.987e-05	2.236e-05	0	2.52e-05	0	0.0019	4.407e-05	9.935e-05	0.0002	3.945e-05	3.941e-05	3.857e-05	4.037e-05	0.0004	1.716e-05	1.13e-05	7.299e-05	3.032e-05	4.83e-05	0	0	0	0	0	0.0032	1.47e-05	0	0.0004	0.367	0.11659	T	0.108	0.37589	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.32	0.00691	N	2.57	0.13552	T	3.57	0.00095	N	0.024	0.03841	-0.9304	0.44080	T	0.007	0.02518	T	9	0.014636844	0.00308	T	8.23E-4	0.00670	T	0.058	0.16647	0.699	0.83592	0.0762999501168	0.06990	0.0056496908278823674	0.00534	0.0714209987842	0.07995	0.238281339407	0.02638	T	0.003459	0.02869	T	-0.629171	0.00097	T	-0.845345	0.01021	T	0.0442284124638147	0.04463	T	0.0357298	0.00319	T	0.034992523	0.04035	0.08343174	0.19118	0.034992523	0.04034	0.08343174	0.19118	-0.129	0.00422	T	.	.	0.092	0.15070	B	.;.;.	.;.;.	-0.558204	0.01690	0.122	0.42410813545902049	0.03124	0.00011	0.00159	N	AEFDBCI	0.078044	0.15737	N	-2.4540855109982	0.00020	0.0008801544	-2.45067687297981	0.00030	0.001326573	0.105874724600331	0.16514	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.727631	0.95156	0	.	.	0.832	-1.66	0.07824	0.139000	0.15858	.	.	-1.992000	0.00454	0.004000	0.16614	0.000000	0.08366	0.671000	0.33280	0.3218:0.3586:0.3196:0.0	4.805	0.12684	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4019.98	33	chr19	12350857	.	C	G	4019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.800e-01;DP=1006;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.466;SOR=0.682	GT:AD:DP:GQ:PL	0/1:152,151:303:99:4034,0,4213	20	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,93,0:175:99:0|1:12430718_C_A:3633,0,3136,3879,3415,7295:12430718	5	4	10	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,9,2,0,0,0,0:20:99:.:.:338,0,381,279,280,613,365,386,633,737,365,386,633,737,737,365,386,633,737,737,737,365,386,633,737,737,737,737	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,9,2,0,0,0,0:20:99:.:.:338,0,381,279,280,613,365,386,633,737,365,386,633,737,737,365,386,633,737,737,737,365,386,633,737,737,737,737	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,9,2,0,0,0,0:20:99:.:.:338,0,381,279,280,613,365,386,633,737,365,386,633,737,737,365,386,633,737,737,737,365,386,633,737,737,737,737	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,9,2,0,0,0,0:20:99:.:.:338,0,381,279,280,613,365,386,633,737,365,386,633,737,737,365,386,633,737,737,737,365,386,633,737,737,737,737	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,9,2,0,0,0,0:20:99:.:.:338,0,381,279,280,613,365,386,633,737,365,386,633,737,737,365,386,633,737,737,737,365,386,633,737,737,737,737	2	3	6	0
chr19	13261453	13261453	C	G	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250C:p.C1417S	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.195	M	-4.35	D	1.104	D	0.955	D	0.869	3.142	16.51	4.28	1.942	7.788	15.505	0.919	0.720049166767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	-4.35	0.97292	D	-9.9	0.98740	D	0.88	0.93370	1.104	0.99792	D	0.955	0.98552	D	10	0.9412385	0.93449	D	0.720049	0.97734	D	0.919	0.97928	0.674	0.81200	0.941752061762	0.94114	0.997802321923104	0.99779	2.44890012304	0.97340	0.720135450363	0.70066	T	0.34092	0.72556	T	0.529847	0.95166	D	0.523312	0.95094	D	0.999120771884918	0.96259	D	0.955704	0.85148	D	0.8946401	0.90909	0.8295416	0.90155	0.8946401	0.90910	0.8295416	0.90156	-12.57	0.87516	D	0.7550199673618676	0.83701	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.176184	0.86775	29.0	0.9877498318136364	0.46033	0.63432	0.32088	D	AEFGBHCI	0.974892	0.99586	D	0.786534102046003	0.85255	8.522144	0.671957541614113	0.80254	7.258447	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	259.27	33	chr19	13261453	.	C	G,T	259.27	.	AC=1,2;AF=0.036,0.071;AN=28;BaseQRankSum=-1.205e+00;DP=1059;ExcessHet=0.3300;FS=141.148;InbreedingCoeff=-0.1849;MLEAC=1,3;MLEAF=0.036,0.107;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=0.369;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:30,0,10:40:36:.:.:36,119,630,0,511,484	11	0	1	7
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.45	M	-4.36	D	1.103	D	0.959	D	0.882	2.999	16.00	4.28	1.942	7.788	15.505	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1071	259.27	33	chr19	13261453	.	C	G,T	259.27	.	AC=1,2;AF=0.036,0.071;AN=28;BaseQRankSum=-1.205e+00;DP=1059;ExcessHet=0.3300;FS=141.148;InbreedingCoeff=-0.1849;MLEAC=1,3;MLEAF=0.036,0.107;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=0.369;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:30,0,10:40:36:.:.:36,119,630,0,511,484	11	0	1	7
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	1/1:0,18,0:18:47:796,47,0,803,54,810	9	4	7	0
chr19	15454364	15454364	G	C	exonic	RASAL3	.	nonsynonymous SNV	RASAL3:NM_022904:exon13:c.C2157G:p.D719E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.952	P	0.652	P	0.004	N	0.536	D	1.555	L	-1.54	D	-0.147	T	0.429	T	0.168	1.595	11.29	3.43	0.724	2.066	7.550	0.261	0.0669926006108	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179428643	2.058e-06	2.052e-06	1.364e-06	2.758e-06	3.501e-05	5.5e-07	1.5e-07	9.3e-06	4.58e-06	0	0	0	0	0	0	0	0	3.501e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.03	0.54159	D	0.191	0.29411	B	0.056	0.26147	B	0.003842	0.34414	N	0.130623	0.536173	0.32016	D	2.045	0.56016	M	-1.54	0.81640	D	-1.91	0.44471	N	0.129	0.12341	-0.1468	0.78995	T	0.429	0.77134	T	10	0.2287175	0.39783	T	0.066993	0.70037	D	0.261	0.57352	0.275	0.22687	0.741307685287	0.73898	0.20572104957426435	0.20489	0.310816969708	0.33391	0.509232878685	0.40114	T	0.058199	0.30778	T	-0.108521	0.35012	T	-0.293029	0.45456	T	0.345440566539764	0.26839	T	0.659534	0.26859	T	0.070469834	0.15523	0.065587215	0.13315	0.070469834	0.15523	0.065587215	0.13314	-6.84	0.52856	T	.	.	0.464	0.62874	A	.;.	.;.	2.367001	0.30367	18.41	0.97953459493643802	0.37122	0.94883	0.62661	D	AEFDGBHCI	0.657073	0.62884	D	-0.181393470984386	0.33910	1.929287	-0.136418260146831	0.33935	1.946516	0.999999787489637	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.596491	0.31596	0	0.683535	0.66460	0	.	.	5.55	3.43	0.38372	2.110000	0.41497	.	.	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.845000	0.39915	0.2595:0.0:0.7405:0.0	7.550	0.26956	652	0.62785	.;Ras GTPase-activating domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1575.98	34	chr19	15454364	.	G	C	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.75;DP=874;ExcessHet=0.0000;FS=2.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-1.171e+00;SOR=0.932	GT:AD:DP:GQ:PL	0/1:81,58:139:99:1590,0,2101	20	0	1	0
chr19	15623104	15623104	G	C	splicing	CYP4F8	NM_007253:exon7:c.648-1G>C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.563	14.53	3.2	1.607	5.401	11.881	.	.	.	0.00439297	0.0027	0.0001	9.527e-05	0	0	1.584e-05	0.0012	0.0199	0.0022315	345	154602	rs562244283	0.0010	0.0010	0.0005	0.0015	0.0166	0.0010	0.0010	0.0159	0.0156	0.0001	0	0	2.522e-05	0	0.0002	1.711e-05	0.0010	0.0166	0.0006	0.0006	0.0003	0.0009	0.0189	0.0005	0.0005	0.0158	0.0146	2.409e-05	0	0	0	0	0	0	1.47e-05	0	0.0189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.272054	0.11529	T	-0.149283	0.59307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.444701	0.47939	22.5	0.98772072228862506	0.45986	0.94518	0.61425	D	AEFDBI	.	.	.	0.760208660145065	0.83567	8.051636	0.497029836869087	0.67793	5.131794	0.74257461874146	0.23235	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.710733	0.43154	3.2	3.2	0.35826	4.805000	0.62253	.	.	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.694000	0.33958	0.0:0.0:1.0:0.0	11.881	0.51857	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1236.98	39	chr19	15623104	.	G	C	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.077e+00;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=0.457;SOR=0.614	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1251,0,1242	20	0	1	0
chr19	16750057	16750057	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C797T:p.A266V	.	.	425	1082	15	0	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.189	B	0.113	B	0.396	N	1.000	N	-0.11	N	-1.41	T	-0.894	T	0.232	T	0.091	-0.797	0.685	0.037	-0.247	-0.055	5.024	0.140	.	0.0002	0.00279553	0.0019	0	0.0007	0	0	0.0006	0.0022	0.0110	0.0016623	257	154602	rs200735264	0.0010	0.0010	0.0007	0.0013	0.0104	0.0009	0.0009	0.0099	0.0096	8.961e-05	0.0006	0.0041	0	0	0.0036	0.0003	0.0013	0.0104	0.0009	0.0009	0.0005	0.0012	0.0104	0.0007	0.0007	0.0081	0.0073	4.81e-05	0	0.0027	0.0046	0	0	0	0.0003	0.0014	0.0104	0.289	0.16793	T	0.062	0.46406	T	0.157	0.28234	B	0.069	0.28749	B	0.396274	0.04507	N	1.428110	1	0.08975	N	0	0.06538	N	-1.41	0.80560	T	-0.29	0.11728	N	0.047	0.03956	-0.8941	0.48567	T	0.232	0.59782	T	10	0.005074203	0.00110	T	.	.	.	0.140	0.37593	.	.	0.0716867268079	0.06686	0.18970174225344194	0.18888	0.142973379505	0.16129	0.207778096199	0.00721	T	0.007067	0.06489	T	-0.516934	0.00458	T	-0.507498	0.21572	T	0.0128055767576513	0.00218	T	0.432757	0.11777	T	0.018611051	0.00383	0.031628143	0.01780	0.018611051	0.00383	0.031628143	0.01780	-4.872	0.35419	T	.	.	0.073	0.04681	B	.;.;.;.	.;.;.;.	-0.197591	0.03103	0.491	0.67345335733443468	0.08327	0.01930	0.05886	N	AEFDBI	0.028339	0.02477	N	-1.10982298745324	0.06468	0.297813	-1.12986282513968	0.07135	0.3459121	1.32552750386162E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.64	0.037	0.13512	0.333000	0.19512	-0.949000	0.06820	-0.983000	0.01888	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5571:0.1715:0.2713:0.0	5.024	0.13716	906	0.23090	.;NACHT nucleoside triphosphatase;.;NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6077.68	41	chr19	16750057	.	C	T	6077.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.724e+00;DP=1249;ExcessHet=0.3300;FS=0.532;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-4.080e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,65:156:99:.:.:1495,0,2449	18	0	3	0
chr19	17058578	17058578	G	A	exonic	HAUS8	.	nonsynonymous SNV	HAUS8:NM_001011699:exon8:c.C613T:p.R205W	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.861	P	0.602	N	1.000	N	1.39	L	-1.06	T	-0.646	T	0.456	T	0.358	2.630	14.76	0.666	0.008	0.910	5.503	0.207	0.105471619358	7.7e-05	.	0.0004	0	8.654e-05	0	0	9.053e-05	0.0033	0.0026	0.0003493	54	154602	rs376846602	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	6.073e-05	2.326e-05	0	0.0003	3.748e-05	0.0007	5.406e-05	0.0002	0.0025	0.0001	0.0001	8.992e-05	0.0002	0.0012	8.16e-05	6.718e-05	0.0005	0.0004	2.405e-05	0	6.534e-05	0	0.0004	0	0	0.0001	0	0.0012	0.004	0.65419	D	0.006	0.72224	D	0.999	0.77913	D	0.861	0.61279	P	0.602356	0.05654	N	1.252920	1	0.08975	N	2.175	0.60977	M	-1.06	0.76819	T	-4.3	0.76496	D	0.325	0.36674	-0.6459	0.62891	T	0.456	0.78790	T	10	0.020490438	0.00473	T	0.105472	0.78060	D	0.207	0.49555	.	.	0.631108546269	0.62809	0.33685896144421573	0.33598	0.533401914816	0.50776	0.257281839848	0.04573	T	0.176554	0.52654	T	-0.329331	0.06162	T	-0.251075	0.49712	T	0.119979424492533	0.14429	T	0.80172	0.44963	T	0.116983294	0.27585	0.10972049	0.26447	0.116983294	0.27584	0.10972049	0.26446	-6.693	0.51758	T	.	.	0.144	0.31633	B	.;.;.	.;.;.	3.380284	0.46749	22.3	0.99680808474055937	0.79241	0.14886	0.18636	N	AEFDBI	0.081062	0.16399	N	-0.31722116117719	0.28494	1.572091	-0.544681170248329	0.20947	1.130906	0.387186028944126	0.20013	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	4.34	0.666	0.17071	0.751000	0.26013	1.846000	0.29223	0.676000	0.76740	0.002000	0.15269	0.011000	0.20116	0.002000	0.04165	0.0995:0.0:0.5266:0.3739	5.503	0.16131	970	0.06235	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1565.98	36	chr19	17058578	.	G	A	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=1.05;SOR=0.737	GT:AD:DP:GQ:PL	0/1:62,59:121:99:1580,0,1493	20	0	1	0
chr19	17286651	17286651	-	GT	exonic	ANKLE1	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1730_1731insGT:p.L591Vfs*19,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	406.05	34	chr19	17286647	.	GGTGT	GGTGTGT,G	406.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.852;DP=999;ExcessHet=0.1072;FS=1.025;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.25;ReadPosRankSum=0.956;SOR=0.937	GT:AD:DP:GQ:PL	0/2:16,0,12:28:99:316,401,1418,0,900,844	19	0	1	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:21,3,8:32:99:.:.:490,347,997,0,520,749	0	10	3	0
chr19	17943702	17943702	A	G	exonic	CCDC124	.	nonsynonymous SNV	CCDC124:NM_001136203:exon5:c.A659G:p.N220S	.	.	414	1105	3	0	0	3	0.00135563	.	.	2348453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.634	P	0.000	D	1.000	D	2.38	M	0.63	T	-0.704	T	0.186	T	0.108	4.176	21.6	3.41	1.801	4.153	9.159	0.200	0.0649133554366	0.0005	0.000399361	0.0002	0.0005	0.0002	0	0	0.0002	0	0.0001	0.0001682	26	154602	rs199727961	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0035	0.0030	0.0002	0.0004	0.0015	0.0001	0	0.0049	0.0001	0.0004	0.0001	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0002	0.0023	0	0	0	0.0002	0	0	0.0	0.91255	D	0.106	0.37872	T	0.991	0.64070	D	0.634	0.51870	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.535	0.38868	L	0.63	0.53088	T	-3.2	0.64710	D	0.613	0.62950	-0.7038	0.60256	T	0.186	0.53631	T	10	0.15530428	0.29274	T	0.064913	0.69421	D	0.200	0.48430	.	.	0.613722742674	0.61060	0.5533258384019232	0.55258	0.777021582019	0.65084	0.505043148994	0.39531	T	0.213043	0.57425	T	-0.347951	0.04857	T	-0.430168	0.29915	T	0.195038944482803	0.20138	T	0.709329	0.31993	T	0.5430972	0.69570	0.49043396	0.70520	0.5430972	0.69571	0.49043396	0.70520	-4.724	0.33693	T	.	.	0.077	0.06803	B	.;.	.;.	4.178369	0.62878	24.5	0.99866354624261855	0.94457	0.91212	0.53080	D	AEFDBCI	0.772052	0.70649	D	0.482077264652903	0.66043	4.899421	0.438060779481004	0.63954	4.639849	0.999999603088758	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	4.52	3.41	0.38145	6.284000	0.72677	9.195000	0.79151	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8167:0.1833:0.0:0.0	9.159	0.36176	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	922.98	34	chr19	17943702	.	A	G	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.090e-01;DP=762;ExcessHet=0.0000;FS=2.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=-6.270e-01;SOR=0.397	GT:AD:DP:GQ:PL	0/1:29,35:64:99:937,0,755	20	0	1	0
chr19	18063921	18063921	C	T	exonic	IL12RB1	.	nonsynonymous SNV	IL12RB1:NM_001290023:exon13:c.G1573A:p.A525T	Immunodeficiency 30, Autosomal recessive	.	0	1482	38	2	0	42	0.0139721	.	.	236909	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency|not_provided	MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.997	D	0.911	D	0.607	N	1.000	N	2.045	M	0.5	T	-1.014	T	0.056	T	0.06	2.671	14.89	2.15	0.895	0.433	8.432	0.206	.	0.0040	0.0195687	0.0117	0.0110	0.0015	0.0502	0	0.0027	0.0059	0.0401	0.0101163	1564	154602	rs11575935	0.0051	0.0051	0.0039	0.0062	0.0401	0.0050	0.0049	0.0390	0.0386	0.0094	0.0017	0.0132	0.0398	5.625e-05	0.0174	0.0009	0.0091	0.0401	0.0065	0.0065	0.0058	0.0072	0.0454	0.0062	0.0060	0.0406	0.0388	0.0090	0.0022	0.0023	0.0121	0.0454	0	0.0034	0.0011	0.0147	0.0409	.	.	.	0.016	0.60972	D	0.997	0.70673	D	0.911	0.64720	D	0.607226	0.10901	N	0.782500	1	0.08975	N	1.98	0.53716	M	0.5	0.55608	T	.	.	.	0.064	0.03613	-1.0136	0.25784	T	0.056	0.23677	T	10	0.0067195	0.00152	T	.	.	.	.	.	.	.	.	.	0.28488406152314305	0.28401	0.205483677471	0.22968	0.365413725376	0.20171	T	0.306319	0.67853	T	-0.624686	0.00103	T	-0.631365	0.10312	T	0.00868647556433934	0.00107	T	0.758824	0.38273	T	0.049493443	0.08796	0.060404792	0.11497	0.041172143	0.06014	0.074910164	0.16438	-4.196	0.26694	T	.	.	0.083	0.09385	B	.;.	.;.	1.593305	0.20375	14.72	0.9964637387613674	0.77005	0.02439	0.06873	N	AEFDBHI	0.045193	0.07363	N	-0.274419835101271	0.30139	1.677789	-0.516139272004057	0.21716	1.176021	0.591489704993698	0.21650	0.562547	0.31514	0	0.653731	0.59785	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	3.21	2.15	0.26590	0.439000	0.21293	0.062000	0.14145	0.527000	0.24520	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.7595:0.2405:0.0	8.432	0.31927	964	0.07719	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1596.98	33	chr19	18063921	.	C	T	1596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.100e-02;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=0.289;SOR=0.685	GT:AD:DP:GQ:PL	0/1:51,65:116:99:1611,0,1188	20	0	1	0
chr19	18161104	18161104	G	A	exonic	PIK3R2	.	nonsynonymous SNV	PIK3R2:NM_005027:exon5:c.G517A:p.G173S,	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2198090	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.801	P	0.415	B	0.020	N	1.000	N	1.04	L	2.25	T	-1.069	T	0.036	T	0.107	3.684	18.72	3.77	2.398	3.653	10.199	0.081	0.0442614020393	.	.	7.541e-05	0	0.0002	0	0	0	0	0.0003	3.88e-05	6	154602	rs767863322	4.764e-05	5.062e-05	2.606e-05	6.953e-05	0.0007	3.829e-05	3.508e-05	0.0006	0.0005	0	0	0	0	0	0.0005	9.038e-07	5.016e-05	0.0007	1.313e-05	1.312e-05	0	2.685e-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	0.066	0.36113	T	0.227	0.25362	T	0.801	0.45051	P	0.415	0.44933	B	0.019945	0.27146	N	0.388183	1	0.08975	N	0.975	0.24501	L	2.25	0.17761	T	-0.47	0.15178	N	0.162	0.18920	-1.0693	0.09567	T	0.036	0.15465	T	10	0.11026195	0.20601	T	0.044261	0.61403	D	0.081	0.23632	0.567	0.68901	0.403424677067	0.39955	0.3540817194667866	0.35322	0.390564189156	0.40270	0.647352159023	0.59610	T	0.090344	0.38566	T	-0.509051	0.00508	T	-0.614959	0.11585	T	0.0878233479666001	0.10957	T	0.720728	0.33361	T	0.2513185	0.48140	0.11823288	0.28541	0.2513185	0.48140	0.11823288	0.28541	-8.165	0.62189	D	0.13618837082665075	0.14871	0.113	0.24329	B	.;.;.	.;.;.	3.507406	0.49099	22.7	0.98694447966326959	0.44809	0.80300	0.39974	D	ALL	0.387746	0.46761	N	-0.0241336885091734	0.40764	2.426502	-0.0645774572757126	0.36866	2.15101	0.999999996655368	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	4.82	3.77	0.42499	3.495000	0.53043	6.429000	0.55629	0.582000	0.30178	0.977000	0.34929	1.000000	0.68203	0.335000	0.25317	0.0931:0.0:0.9069:0.0	10.199	0.42247	964	0.07719	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	766.98	40	chr19	18161104	.	G	A	766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.773;SOR=0.675	GT:AD:DP:GQ:PL	0/1:51,30:81:99:781,0,1457	20	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,51,0:119:99:0|1:20624371_G_GA:1893,0,2676,2098,2829,4927:20624371	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,54,0:120:99:0|1:20624371_G_GA:1820,0,2608,2018,2760,4778:20624371	0	4	3	7
chr19	22314444	22314444	A	G	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.A1027G:p.T343A,	.	.	430	1085	5	0	2	7	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	.	.	1.63	L	5.48	T	-0.968	T	0.005	T	0.21	0.307	5.664	-0.855	-0.618	2.523	4.317	0.086	0.00225949283744	.	.	0.0002	0.0001	0.0003	0	0.0002	0.0002	0	0	0.0001229	19	154602	rs764887966	0.0028	0.0041	0.0026	0.0030	0.0085	0.0027	0.0027	0.0078	0.0075	0.0006	0.0074	0.0019	0.0085	0.0053	0.0030	0.0020	0.0041	0.0072	0.0018	0.0040	0.0016	0.0019	0.0051	0.0016	0.0015	0.0035	0.0032	0.0002	0	0.0044	0.0003	0.0008	0.0019	0	0.0022	0.0010	0.0051	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.50570	L	5.48	0.00939	T	.	.	.	0.196	0.21580	-0.9677	0.37673	T	0.005	0.01506	T	6	0.0062211454	0.00140	T	0.002259	0.04314	T	.	.	.	.	0.0297737177859	0.01360	0.006950557827424315	0.00662	0.0117517464384	0.01108	0.406716108322	0.26003	T	0.013321	0.11547	T	-0.600712	0.00144	T	-0.630952	0.10343	T	0.00283690446206348	0.00030	T	0.00827695	0.00038	T	0.054282665	0.10392	0.09702577	0.23077	0.054282665	0.10391	0.09702577	0.23077	-7.621	0.58457	D	.	.	0.091	0.13080	B	.	.	1.310056	0.17132	12.98	0.43167113511087324	0.03231	0.35119	0.25227	N	AEFBCI	0.071668	0.14277	N	-0.7708437796746	0.14074	0.6981655	-0.983818581312014	0.10148	0.5092959	1.31273438236576E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.428	-0.855	0.10158	1.106000	0.30712	.	.	0.221000	0.18078	0.006000	0.17386	0.000000	0.08366	0.095000	0.18041	0.513:0.0:0.0:0.487	4.317	0.10440	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	453.11	35	chr19	22314444	.	A	G	453.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.96;DP=893;ExcessHet=0.1072;FS=4.011;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.02;MQRankSum=-9.618e+00;QD=1.96;ReadPosRankSum=-3.277e+00;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,11:123:99:0|1:22314389_T_A:125,0,4670:22314389	19	0	2	0
chr19	22314450	22314450	A	G	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.A1033G:p.K345E,	.	.	440	1076	5	0	1	6	0.00231803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	.	.	-1.17	N	5.2	T	-0.936	T	0.001	T	0.053	-1.942	0.007	-0.855	-0.363	0.838	4.972	0.033	0.00333158294545	.	.	5.541e-05	0	0.0002	0	0	6.6e-05	0	0	0.0003816	59	154602	rs752366075	0.0029	0.0037	0.0026	0.0031	0.0086	0.0028	0.0027	0.0079	0.0076	0.0007	0.0078	0.0018	0.0086	0.0051	0.0034	0.0020	0.0040	0.0077	0.0015	0.0026	0.0015	0.0016	0.0041	0.0014	0.0013	0.0032	0.0029	0.0002	0	0.0041	0.0003	0.0004	0.0020	0	0.0018	0.0010	0.0038	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.41	0.02942	N	5.2	0.01165	T	.	.	.	0.122	0.11340	-0.9363	0.43195	T	0.001	0.00438	T	6	0.004689902	0.00099	T	0.003332	0.07421	T	.	.	.	.	0.0297737177859	0.01360	0.0051363204341247	0.00484	0.00843398898925	0.00763	0.340432047844	0.16503	T	0.001359	0.00832	T	-0.709598	0.00032	T	-0.787219	0.02242	T	0.0043571927721879	0.00046	T	0.0333967	0.00218	T	0.04407289	0.06981	0.07494415	0.16448	0.04407289	0.06980	0.07494415	0.16447	-3.21	0.12603	T	.	.	0.055	0.00375	B	.	.	-0.312286	0.02564	0.312	0.10639762865508966	0.00139	0.00464	0.02234	N	AEFBCI	0.022318	0.01100	N	-1.38802286606169	0.02749	0.1218538	-1.50363747807456	0.02316	0.106327	2.22081306905671E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.428	-0.855	0.10158	1.281000	0.32819	.	.	0.221000	0.18078	0.916000	0.31843	0.000000	0.08366	0.072000	0.16771	0.4601:0.0:0.5399:0.0	4.972	0.13467	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	525.11	35	chr19	22314450	.	A	G	525.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.04;DP=899;ExcessHet=0.1072;FS=8.298;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.11;MQRankSum=-9.696e+00;QD=2.22;ReadPosRankSum=-2.666e+00;SOR=1.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,12:126:99:0|1:22314389_T_A:161,0,4751:22314389	19	0	2	0
chr19	22314465	22314465	C	T	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.C1048T:p.R350C,	.	.	472	1044	5	0	1	6	0.00238892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	.	.	-4.015	N	3.71	T	-0.921	T	0.001	T	0.145	-2.236	0.005	-0.74	-0.976	2.845	4.927	0.185	0.0184740447539	.	.	0.0002	0	0.0013	0	0	8.252e-05	0	0	0.0003234	50	154602	rs201406037	0.0033	0.0040	0.0030	0.0036	0.0097	0.0032	0.0032	0.0089	0.0086	0.0007	0.0097	0.0019	0.0092	0.0060	0.0032	0.0023	0.0044	0.0092	0.0019	0.0027	0.0018	0.0020	0.0048	0.0017	0.0016	0.0034	0.0031	0.0003	0	0.0043	0.0006	0.0007	0.0019	0	0.0024	0.0016	0.0048	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.02	0.00000	N	3.71	0.04046	T	.	.	.	0.156	0.16168	-0.9207	0.45458	T	0.001	0.00467	T	6	0.0044113398	0.00090	T	0.018474	0.40544	T	.	.	.	.	0.0401082797425	0.02173	0.020438225714581044	0.01996	0.00840729258209	0.00763	0.414145559072	0.27030	T	0.018832	0.15112	T	-0.644589	0.00078	T	-0.693979	0.06161	T	0.0142267395408211	0.00281	T	0.0223978	0.00128	T	0.08629841	0.20053	0.05714741	0.10338	0.08629841	0.20052	0.05714741	0.10338	5.204	0.00003	T	.	.	0.061	0.01109	B	.	.	-0.208399	0.03048	0.470	0.070424718442111081	0.00034	0.01043	0.03895	N	AEFBCI	0.015277	0.00283	N	-1.6186583232605	0.01174	0.05103847	-1.57158557712141	0.01831	0.08343255	3.89720637538446E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	-0.74	0.10555	2.277000	0.43076	.	.	-1.104000	0.01503	0.987000	0.36337	0.000000	0.08366	0.007000	0.07825	0.0:0.2175:0.0:0.7825	4.927	0.13252	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	782.11	35	chr19	22314465	.	C	T	782.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.18;DP=905;ExcessHet=0.1072;FS=10.712;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.14;MQRankSum=-9.070e+00;QD=3.27;ReadPosRankSum=-1.365e+00;SOR=1.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,14:122:99:0|1:22314389_T_A:263,0,4493:22314389	19	0	2	0
chr19	22857391	22857391	A	T	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.A500T:p.H167L,	.	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs375188361	0.0003	0.0002	0.0002	0.0004	0.0025	0.0003	0.0002	0.0022	0.0021	0	2.535e-05	0	0	0	0.0012	3.153e-05	5.724e-05	0.0025	0.0001	0.0001	7.706e-05	0.0001	0.0029	7.083e-05	5.741e-05	0.0018	0.0014	0	0	0	0	0	0	0	4.409e-05	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036090046	0.01890	T	.	.	.	.	.	.	.	.	.	0.002210760559636112	0.00205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132987	0.00072	T	0.19126529	0.40746	0.1849233	0.41574	0.19126529	0.40746	0.1849233	0.41573	-5.79	0.44487	T	.	.	0.094	0.14339	B	.	.	1.082236	0.14654	11.21	0.63789523256748104	0.07317	0.01338	0.04604	N	AEFDBCI	.	.	.	.	.	.	.	.	.	4.8396779699489E-4	0.07123	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.635432	0.41468	0.428	0.428	0.15714	2.733000	0.47032	.	.	0.248000	0.18312	0.187000	0.24151	0.000000	0.08366	0.019000	0.11356	1.0:0.0:0.0:0.0	6.556	0.21658	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2717.98	40	chr19	22857391	.	A	T	2717.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.10;DP=940;ExcessHet=0.0000;FS=1.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.457;SOR=0.652	GT:AD:DP:GQ:PL	0/1:109,96:205:99:2732,0,2916	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.340	40	4.72	2.174	8.944	17.685	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2050.0	174	chr19	32999679	.	G	A	2050.0	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.491e+00;DP=3802;ExcessHet=4.7172;FS=2.492;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=54.90;MQRankSum=-6.014e+00;QD=1.13;ReadPosRankSum=2.20;SOR=0.676	GT:AD:DP:GQ:PL	0/1:205,33:238:99:103,0,5629	12	0	9	0
chr19	34482146	34482146	G	A	exonic	WTIP	.	nonsynonymous SNV	WTIP:NM_001080436:exon1:c.G172A:p.G58S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	.	.	0.996	N	0	N	0.08	T	-1.043	T	0.073	T	0.166	1.307	10.28	-0.549	0.143	0.310	4.016	0.052	0.621428551056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.092e-06	3.42e-06	2.055e-06	0	1.225e-06	0	0	.	.	0	0	0	0	0	0	1.225e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.04416	T	.	.	.	.	.	.	.	.	.	.	0.996303	0.23055	N	0	0.06538	N	0.15	0.60734	T	.	.	.	0.074	0.04790	-1.0427	0.16503	T	0.073	0.29643	T	9	0.120030075	0.22727	T	0.621429	0.96723	D	.	.	.	.	0.136095386433	0.13204	0.22875010262863435	0.22790	1.04198484188	0.75827	0.898856461048	0.96312	D	0.002883	0.02278	T	-0.164699	0.26039	T	-0.474355	0.25049	T	0.15613429248333	0.17581	T	0.377862	0.09067	T	0.073577575	0.16450	0.1462625	0.34658	0.073577575	0.16450	0.1462625	0.34657	-4.018	0.24072	T	.	.	0.099	0.16626	B	.	.	2.471054	0.31848	18.87	0.99054400304476897	0.51321	0.05887	0.11836	N	AEFDBHCI	0.044233	0.07091	N	-0.903061971836578	0.10770	0.5163141	-0.850170222620757	0.13284	0.6882422	0.999998837093163	0.74766	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.621717	0.48901	0	.	.	1.88	-0.549	0.11237	0.496000	0.22207	1.973000	0.29997	0.257000	0.18371	0.006000	0.17386	0.608000	0.25754	0.028000	0.12845	0.4279:0.0:0.5721:0.0	4.016	0.09130	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	36.27	2	chr19	34482146	.	G	A	36.27	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=291;ExcessHet=0.0000;FS=3.310;InbreedingCoeff=-0.0419;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=-4.930e-01;SOR=2.303	GT:AD:DP:GQ:PL	0/1:8,2:10:50:50,0,168	20	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1248.58	34	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	A,*	1248.58	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.761;DP=1237;ExcessHet=3.5521;FS=1.779;InbreedingCoeff=-0.2353;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.054;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:29,0,31:60:99:.:.:1220,1307,2491,0,1184,1080	13	0	1	0
chr19	35527746	35527746	C	0	exonic	SBSN	.	.	.	.	.	427	1059	23	1	12	37	0.0116659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2598.15	211	chr19	35527746	.	C	G,*	2598.15	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.851e+00;DP=2067;ExcessHet=0.3300;FS=1.107;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=59.24;MQRankSum=3.51;QD=3.84;ReadPosRankSum=-2.316e+00;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,97,0:181:99:.:.:2612,0,2918,3052,3097,6650	18	0	1	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,21:87:99:0|1:37887095_C_T:355,0,2267:37887095	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,21:87:99:0|1:37887095_C_T:355,0,2267:37887095	1	0	15	5
chr19	39515674	39515674	C	T	exonic	SELENOV	.	unknown	UNKNOWN,	.	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0295527	0.0223	0.0011	0.0461	0.0579	0.0758	0.0008	0.0195	0.0351	0.0044889	694	154602	rs75990051	0.0063	0.0061	0.0056	0.0070	0.0492	0.0062	0.0061	0.0473	0.0465	0.0012	0.0492	3.973e-05	0.0468	0.0194	0.0023	0.0009	0.0094	0.0365	0.0088	0.0088	0.0070	0.0106	0.0497	0.0084	0.0082	0.0447	0.0428	0.0017	0	0.0335	0	0.0497	0.0194	0	0.0009	0.0099	0.0424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	39	chr19	39515674	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.237e+00;DP=770;ExcessHet=0.0000;FS=4.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-7.600e-02;SOR=0.789	GT:AD:DP:GQ:PL	0/1:30,41:71:99:966,0,820	20	0	1	0
chr19	40015261	40015261	C	A	exonic	ZNF546	.	nonsynonymous SNV	ZNF546:NM_001297763:exon7:c.C1913A:p.P638H	.	.	411	1096	13	2	0	17	0.00769579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.653	D	3.2	M	0.43	T	-0.028	T	0.311	T	0.441	2.930	15.77	2.68	1.804	3.803	11.527	0.210	.	0.0035	0.00379393	0.0043	0.0012	0.0016	0	0.0044	0.0044	0.0055	0.0100	0.0042561	658	154602	rs142397727	0.0052	0.0052	0.0052	0.0053	0.0090	0.0051	0.0051	0.0084	0.0082	0.0010	0.0016	0.0077	0	0.0035	0.0047	0.0054	0.0052	0.0090	0.0035	0.0035	0.0035	0.0035	0.0097	0.0032	0.0031	0.0075	0.0067	0.0010	0	0.0021	0.0092	0	0.0035	0.0068	0.0048	0.0057	0.0097	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.653301	0.32984	D	2.09	0.57893	M	2.27	0.56772	T	-7.06	0.93879	D	0.414	0.45426	-0.0279	0.81675	T	0.311	0.68112	T	9	0.008543998	0.00194	T	.	.	.	0.210	0.50028	.	.	0.860167341092	0.85881	0.03879595108451441	0.03825	0.484137268567	0.47336	0.386950731277	0.23238	T	0.113869	0.43125	T	-0.364672	0.03873	T	-0.289354	0.45839	T	0.0383043435494674	0.03386	T	.	.	.	0.4752062	0.65609	0.47731093	0.69718	0.4752062	0.65609	0.47731093	0.69719	-9.59	0.71418	D	.	.	0.893	0.84006	P	.;.	.;.	3.101264	0.41800	21.4	0.99558160566288523	0.71583	0.86165	0.45394	D	AEFGBHCI	0.412693	0.48266	N	0.471918669536868	0.65458	4.824925	0.262871618795705	0.53386	3.507753	0.999386520617574	0.39415	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	2.68	2.68	0.30839	3.084000	0.49841	.	.	0.469000	0.21855	0.951000	0.33123	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	11.527	0.49836	769	0.49307	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	0.02381	1665.98	46	chr19	40015261	.	C	A	1665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.580e-01;DP=1004;ExcessHet=0.0000;FS=1.381;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.441;SOR=0.624	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1680,0,1873	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,27,0:29:3:0|1:40667975_C_T:1069,0,3,1075,84,1159:40667975	4	8	8	0
chr19	40849872	40849872	C	T	exonic	CYP2A6	.	nonsynonymous SNV	CYP2A6:NM_000762:exon2:c.G289A:p.E97K,	Coumarin resistance, Autosomal dominant	.	0	1496	26	0	0	26	0.00861498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.991	D	0.929	D	0.000	U	0.727	N	2.05	M	-0.42	T	-0.354	T	0.382	T	0.259	3.035	16.13	2.72	1.336	6.817	9.293	0.358	.	0.0019	0.00519169	0.0046	0.0005	0.0020	0	0.0002	0.0022	0.0077	0.0227	0.0040879	632	154602	rs145308399	0.0033	0.0033	0.0026	0.0039	0.0226	0.0032	0.0031	0.0217	0.0214	0.0003	0.0021	0.0075	0	0.0001	0.0039	0.0021	0.0032	0.0226	0.0022	0.0022	0.0019	0.0025	0.0209	0.0020	0.0019	0.0175	0.0163	0.0005	0	0.0022	0.0066	0	0.0004	0.0068	0.0021	0.0043	0.0209	0.043	0.41364	D	0.102	0.38450	T	.	.	.	.	.	.	0.000003	0.62929	U	0.058866	0.726809	0.29868	N	.	.	.	-0.42	0.69536	T	-2.23	0.50012	N	0.464	0.50056	-0.3536	0.73449	T	0.382	0.73855	T	10	0.02225554	0.00551	T	.	.	.	0.358	0.67872	.	.	0.829954242899	0.82834	0.49470264108886136	0.49391	0.452566574264	0.44973	0.493819057941	0.37969	T	.	.	.	-0.352056	0.04598	T	-0.284647	0.46326	T	0.0487354988149106	0.05275	T	0.823018	0.48339	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.57847	A	.	.	3.674582	0.52266	23.2	0.99879607470037846	0.95572	0.97730	0.76719	D	AEFBI	0.798375	0.72494	D	0.345603181256222	0.58507	4.023427	0.21264490637761	0.50547	3.245732	0.0640365216161682	0.15316	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.616125	0.45549	0	.	.	2.72	2.72	0.31179	7.104000	0.76667	.	.	0.275000	0.18574	1.000000	0.71638	0.992000	0.31684	0.022000	0.11911	0.0:0.7763:0.2237:0.0	9.293	0.36958	528	0.73785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2071.98	35	chr19	40849872	.	C	T	2071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.820e-01;DP=991;ExcessHet=0.0000;FS=4.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.91;MQRankSum=2.68;QD=10.26;ReadPosRankSum=-4.260e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/1:113,89:202:99:2086,0,2998	20	0	1	0
chr19	41194647	41194647	A	G	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon2:c.A281G:p.Q94R,	.	.	.	.	.	.	.	.	.	.	.	3420172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.165	B	0.018	B	0.018	N	1.000	D	1.265	L	5.1	T	-0.713	T	0.005	T	0.122	1.731	11.75	4.27	1.825	3.376	11.461	0.086	0.0145456548362	.	.	0.0002	0	0.0006	0	0	2.998e-05	0.0022	0.0012	0.000194	30	154602	rs771065124	7.739e-05	7.798e-05	3.407e-05	0.0001	0.0012	6.541e-05	6.143e-05	0.0011	0.0010	0	0	0	0	0	0	8.998e-07	8.291e-05	0.0012	1.97e-05	1.969e-05	1.285e-05	2.687e-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	0.166	0.23183	T	0.103	0.38305	T	0.165	0.28508	B	0.018	0.18489	B	0.017666	0.27666	N	0.372584	1	0.81001	D	1.595	0.40691	L	5.1	0.01231	T	-1.91	0.44471	N	0.085	0.06190	-0.7130	0.59805	T	0.005	0.01725	T	10	0.029934227	0.01119	T	0.014546	0.34740	T	0.086	0.25016	0.411	0.44723	0.0666544352282	0.05500	0.36186534225303435	0.36100	0.741416554675	0.63284	0.379888355732	0.22241	T	0.017717	0.16683	T	-0.561172	0.00250	T	-0.624413	0.10843	T	0.0416356714221053	0.03987	T	0.50025	0.33277	T	0.22226717	0.44822	0.21936737	0.46674	0.22226717	0.44822	0.21936737	0.46673	-6.373	0.49299	T	.	.	0.084	0.09868	B	.;.	.;.	2.984954	0.39833	21.0	0.98346207412688713	0.40497	0.86682	0.46015	D	AEFDBI	0.290287	0.40171	N	-0.43643160032541	0.24202	1.305179	-0.409486035517427	0.24719	1.355191	0.999999147777536	0.74766	0.627647	0.40530	0	0.610034	0.51514	0	0.672317	0.60874	0	0.550183	0.17644	0	.	.	4.27	4.27	0.50009	2.059000	0.41010	6.575000	0.55979	0.691000	0.84096	0.128000	0.23311	1.000000	0.68203	0.919000	0.45453	1.0:0.0:0.0:0.0	11.461	0.49459	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	450.98	34	chr19	41194647	.	A	G	450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=733;ExcessHet=0.0000;FS=5.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-6.030e-01;SOR=1.995	GT:AD:DP:GQ:PL	0/1:17,17:34:99:465,0,394	20	0	1	0
chr19	41239703	41239703	A	C	exonic	AXL	.	nonsynonymous SNV	AXL:NM_001278599:exon7:c.A491C:p.Q164P	.	.	418	1096	7	1	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.347	B	0.043	B	0.276	N	1.000	D	0	N	-0.92	T	-1.001	T	0.142	T	0.459	0.969	8.956	3.25	0.686	1.875	4.895	0.213	0.0388722305761	0.0002	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0007	0.0001746	27	154602	rs199928489	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	8.961e-05	0	0	0	3.745e-05	0.0017	0.0001	0.0002	0.0006	0.0001	0.0001	0.0001	0.0002	0.0006	9.144e-05	7.7e-05	0.0002	8.992e-05	7.218e-05	0	6.54e-05	0	0	9.416e-05	0.0068	0.0002	0	0.0006	0.271	0.15984	T	0.268	0.22494	T	0.347	0.33585	B	0.043	0.24256	B	0.275979	0.15036	N	0.612388	1	0.81001	D	-0.345	0.03330	N	-0.92	0.75108	T	-0.48	0.15379	N	0.326	0.37405	-1.0006	0.29746	T	0.142	0.46331	T	10	0.048037797	0.04201	T	0.038872	0.58482	D	0.213	0.50496	.	.	0.683692315528	0.68099	0.6271751314507209	0.62650	0.309415932302	0.33251	0.543808043003	0.44983	T	0.186081	0.53926	T	-0.267865	0.11995	T	-0.23933	0.50863	T	0.0241071543920667	0.01158	T	0.670133	0.28021	T	0.10225841	0.24160	0.115856044	0.27968	0.10225841	0.24160	0.115856044	0.27967	-3.879	0.21988	T	.	.	0.057	0.00583	B	.;.	.;.	2.536949	0.32808	19.15	0.94305901757211796	0.24619	0.73695	0.36047	D	AEFGBI	0.260585	0.37871	N	-0.404060992346667	0.25326	1.374007	-0.261479934388279	0.29378	1.645462	0.999548742672197	0.40300	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.29	3.25	0.36363	2.049000	0.40912	7.535000	0.59982	0.710000	0.85309	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.6168:0.1953:0.0:0.1879	4.895	0.13100	538	0.73119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1557.98	35	chr19	41239703	.	A	C	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=899;ExcessHet=0.0000;FS=0.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=0.104;SOR=0.589	GT:AD:DP:GQ:PL	0/1:79,62:141:99:1572,0,1839	20	0	1	0
chr19	41414125	41414125	C	T	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon4:c.C452T:p.T151M	Maple syrup urine disease, type Ia, Autosomal recessive	YES	1	1439	78	4	0	86	0.0290148	.	.	99268	Maple_syrup_urine_disease|not_provided|not_specified|Maple_syrup_urine_disease_type_1A	MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.969	D	0.806	P	0.000	D	0.983	D	1.79	L	-3.88	D	0.800	D	0.837	D	0.305	4.042	20.7	4.66	2.578	1.755	16.831	0.170	.	0.0075	0.00419329	0.0108	0.0018	0.0035	0.0001	0.0296	0.0145	0.0113	0.0050	0.0100775	1558	154602	rs34442879	0.0090	0.0090	0.0090	0.0089	0.0468	0.0088	0.0088	0.0422	0.0404	0.0019	0.0044	0.0054	2.519e-05	0.0251	0.0468	0.0090	0.0093	0.0054	0.0079	0.0079	0.0071	0.0087	0.0103	0.0075	0.0073	0.0097	0.0094	0.0015	0	0.0051	0.0040	0.0004	0.0261	0.0612	0.0103	0.0123	0.0041	0.02	0.56456	D	0.044	0.49663	D	0.963	0.55692	D	0.622	0.51475	P	0.000089	0.51296	D	0.167160	0.927282	0.39958	D	1.845	0.48678	L	-3.88	0.95953	D	-1.21	0.31375	N	0.185	0.34012	0.800	0.94407	D	0.837	0.94546	D	10	0.017781347	0.00382	T	.	.	.	0.434	0.73951	.	.	.	.	0.7002436206164835	0.69965	1.23621605308	0.85030	0.532821595669	0.43432	T	0.534257	0.83937	D	-0.208204	0.19633	T	-0.0608155	0.66276	T	0.0228603141182863	0.01008	T	0.928207	0.73493	D	0.15023611	0.34212	0.08159312	0.18555	0.15023611	0.34212	0.08159312	0.18554	-5.983	0.49852	T	0.289193797445513	0.38554	0.089	0.31532	B	.;.;.;.	.;.;.;.	3.389103	0.46917	22.4	0.99873433679432777	0.95076	0.68246	0.33730	D	AEFBI	0.639883	0.61778	D	0.332885079307658	0.57843	3.953436	0.299358951351295	0.55501	3.713204	0.987086427242392	0.31181	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	1.309000	0.33145	3.999000	0.41057	0.599000	0.40250	0.226000	0.24601	0.994000	0.32194	0.989000	0.64315	0.0:1.0:0.0:0.0	16.831	0.85808	856	0.34373	.;Dehydrogenase, E1 component;Dehydrogenase, E1 component;.	PCAT19|PCAT19|PCAT19|PCAT19|PCAT19	Adipose_Subcutaneous|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|LTBP4|LTBP4	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	.	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	0.04762	1231.11	33	chr19	41414125	.	C	T	1231.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.705;DP=784;ExcessHet=0.1072;FS=1.824;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.730;SOR=0.948	GT:AD:DP:GQ:PL	0/1:17,12:29:99:300,0,421	19	0	2	0
chr19	42907615	42907615	C	T	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon4:c.G946A:p.G316S	.	.	11	1489	20	2	0	24	0.00799467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.093	B	0.054	B	.	.	1.000	P	-0.7	N	2.46	T	-0.955	T	0.000	T	0.29	-0.037	3.824	-2.06	-0.120	0.239	1.403	0.055	.	0.0008	0.033147	0.0149	0.0007	0.0074	0.1068	0	0.0012	0.0177	0.0424	0.0136609	2112	154602	rs76740241	0.0069	0.0069	0.0060	0.0078	0.1261	0.0068	0.0068	0.1232	0.1220	0.0008	0.0060	0.0110	0.1261	3.744e-05	0.0042	0.0006	0.0108	0.0373	0.0065	0.0066	0.0055	0.0075	0.1110	0.0062	0.0060	0.1034	0.1004	0.0009	0	0.0065	0.0118	0.1110	0	0	0.0006	0.0085	0.0380	0.722	0.03903	T	1.0	0.01155	T	0.093	0.25333	B	0.043	0.25828	B	.	.	.	.	1	0.08975	P	-0.095	0.04716	N	2.46	0.14907	T	-0.77	0.21429	N	0.054	0.02861	-0.9545	0.40185	T	0.000	0.00114	T	8	0.0036490262	0.00067	T	.	.	.	0.055	0.15663	.	.	.	.	0.10658892219979717	0.10588	.	.	.	.	.	0.004491	0.03897	T	-0.704286	0.00034	T	-0.654614	0.08633	T	0.000830535358571765	0.00008	T	0.609739	0.23084	T	0.03691879	0.04635	0.03691207	0.03233	0.03691879	0.04634	0.03691207	0.03232	-3.872	0.23428	T	.	.	0.106	0.22354	B	.;.	.;.	0.047780	0.04620	1.286	0.42825983019287289	0.03183	0.00010	0.00151	N	AEFI	0.017322	0.00447	N	-1.46130048375534	0.02129	0.09369935	-1.51703498599522	0.02213	0.101433	3.09077698063335E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.06	0.06894	0.316000	0.19217	-0.103000	0.11918	-0.393000	0.05333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3275:0.2581:0.0:0.4144	1.403	0.02139	693	0.58582	.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3793.98	34	chr19	42907615	.	C	T	3793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.260e-01;DP=1028;ExcessHet=0.0000;FS=0.424;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.15;MQRankSum=-1.537e+00;QD=12.60;ReadPosRankSum=-1.600e+00;SOR=0.647	GT:AD:DP:GQ:PL	0/1:149,152:301:99:3808,0,3827	20	0	1	0
chr19	43198032	43198032	G	A	exonic	PSG4	.	nonsynonymous SNV	PSG4:NM_001316339:exon2:c.C308T:p.A103V	.	.	25	1482	13	2	0	17	0.00570278	.	.	1220646	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.967	D	0.944	D	.	.	1.000	P	1.405	L	2.72	T	-1.068	T	0.002	T	0.223	1.309	10.29	-3.17	-0.697	-0.211	6.216	0.035	.	0.0004	0.0241613	0.0116	0.0003	0.0076	0.1561	0	0.0008	0.0080	0.0033	0.0101034	1562	154602	rs139058318	0.0044	0.0044	0.0045	0.0044	0.1471	0.0043	0.0043	0.1436	0.1422	0.0002	0.0066	0.0046	0.1471	0.0005	0.0012	0.0003	0.0084	0.0030	0.0059	0.0063	0.0050	0.0067	0.1509	0.0055	0.0054	0.1410	0.1371	0.0004	0	0.0084	0.0069	0.1509	0.0003	0	0.0004	0.0095	0.0052	0.08	0.33585	T	0.155	0.47828	T	0.877	0.56408	P	0.656	0.68059	P	.	.	.	.	1	0.08975	P	1.35	0.33515	L	2.72	0.11947	T	-1.62	0.52776	N	0.013	0.12627	-1.0679	0.09880	T	0.002	0.00738	T	8	0.0016472936	0.00020	T	.	.	.	0.035	0.08770	.	.	.	.	0.049528310396252426	0.04895	0.0273631188102	0.02796	0.310818076134	0.12031	T	0.009793	0.32465	T	-0.289288	0.09707	T	-0.653318	0.08723	T	0.0509393488020036	0.05665	T	0.839416	0.51368	T	0.054964136	0.10618	0.07272538	0.15721	0.054964136	0.10618	0.07272538	0.15721	-5.686	0.43569	T	.	.	0.135	0.38693	B	.;.;.;.;.	.;.;.;.;.	0.983393	0.13607	10.14	0.98715886229713856	0.45127	0.00181	0.01060	N	AEFI	0.030131	0.02974	N	-0.667138356201723	0.16963	0.8688534	-0.973182511535304	0.10390	0.5229903	2.43810031671997E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.96	-3.17	0.04882	-0.177000	0.09789	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.6917:0.0:0.3083:0.0	6.216	0.19866	819	0.41190	Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5027.08	172	chr19	43198032	.	G	A	5027.08	.	AC=2;AF=0.048;AN=42;DP=2295;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=47.19;QD=31.42;SOR=1.244	GT:AD:DP:GQ:PL	1/1:0,160:160:99:5055,480,0	20	1	0	0
chr19	45350719	45350719	C	T	exonic	KLC3	.	stopgain	KLC3:NM_177417:exon11:c.C1351T:p.R451X,	.	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.007	N	1.000	D	.	.	.	.	.	.	.	.	.	4.273	22.3	2.9	2.063	0.847	8.896	.	.	.	0.000199681	0.0001	0.0002	0	0.0001	0.0002	5.31e-05	0	0.0005	0.0001229	19	154602	rs551647275	6.434e-05	6.43e-05	4.631e-05	8.256e-05	0.0009	5.365e-05	4.979e-05	0.0004	0.0004	5.977e-05	0.0001	0	0.0001	0.0001	0.0009	1.979e-05	3.314e-05	0.0005	7.889e-05	7.876e-05	6.429e-05	9.416e-05	0.0004	4.499e-05	3.514e-05	7.324e-05	3.041e-05	4.82e-05	0	0.0002	0	0.0002	0.0002	0	2.942e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.007301	0.31472	N	0.198315	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.124	0.11626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293177	0.82414	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	8.844441	0.98102	38	0.99650607642754363	0.77254	0.86904	0.46290	D	AEFDBI	0.275050	0.39010	N	0.487711813725291	0.66371	4.941511	0.275884944049527	0.54135	3.579443	0.100883569130988	0.16364	0.732398	0.92422	0	0.694456	0.67091	0	0.606735	0.37207	0	0.727631	0.95156	0	.	.	4.01	2.9	0.32809	0.673000	0.24883	0.881000	0.22395	0.599000	0.40250	0.964000	0.33853	0.454000	0.24968	0.344000	0.25523	0.221:0.779:0.0:0.0	8.896	0.34627	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	738.98	44	chr19	45350719	.	C	T	738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=873;ExcessHet=0.0000;FS=2.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-8.990e-01;SOR=0.818	GT:AD:DP:GQ:PL	0/1:26,27:53:99:753,0,671	20	0	1	0
chr19	45357682	45357682	C	T	exonic	ERCC2	.	nonsynonymous SNV	ERCC2:NM_000400:exon13:c.G1255A:p.E419K,	Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy 1, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1908146	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.961	D	0.000	D	1.000	D	3.58	H	-1.54	D	0.808	D	0.789	D	0.929	5.417	35	5.51	2.586	5.141	16.897	0.885	0.375013852292	.	0.000599042	9.132e-05	0	0.0002	0	0	1.509e-05	0	0.0005	9.06e-05	14	154602	rs574002154	4.515e-05	4.515e-05	4.084e-05	4.951e-05	0.0004	3.641e-05	3.322e-05	0.0003	0.0002	5.974e-05	0	0	0	0	0	2.518e-05	4.967e-05	0.0004	5.916e-05	5.907e-05	1.286e-05	0.0001	0.0012	3.079e-05	2.211e-05	0.0005	0.0004	2.41e-05	0	6.551e-05	0	0	0	0	1.471e-05	0	0.0012	0.001	0.78490	D	0.002	0.79402	D	0.977	0.63424	D	0.537	0.57754	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.64	0.94097	H	-1.54	0.83660	D	-3.8	0.71762	D	0.852	0.84817	0.808	0.94515	D	0.789	0.92854	D	10	0.58148104	0.65874	D	0.375014	0.92837	D	0.885	0.96651	.	.	0.987582681383	0.98744	0.9496792905096944	0.94950	0.807762257892	0.66579	0.827055037022	0.86112	D	0.548535	0.84670	D	0.185073	0.72508	D	0.377499	0.91344	D	0.986756086349487	0.77395	D	0.998567	0.99239	D	0.9762513	0.98811	0.93643814	0.97532	0.9762513	0.98811	0.93643814	0.97532	-15.036	0.95936	D	0.8804249410069552	0.93835	0.990	0.93477	P	.;.;.	.;.;.	5.393563	0.90346	31	0.99911947916712907	0.98095	0.88730	0.48798	D	AEFDBCI	0.661116	0.63145	D	0.841026407832953	0.88590	9.63624	0.787260662543221	0.88895	9.756839	0.999999730541987	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	5.336000	0.65707	7.565000	0.60571	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	16.897	0.85972	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	770.98	34	chr19	45357682	.	C	T	770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=799;ExcessHet=0.0000;FS=3.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=-1.023e+00;SOR=1.096	GT:AD:DP:GQ:PL	0/1:52,32:84:99:785,0,1321	20	0	1	0
chr19	48143892	48143892	G	A	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon8:c.C644T:p.P215L	DNA ligase I deficiency (3)	.	422	1098	2	0	0	2	0.000909918	.	.	3401586	Immunodeficiency_96	MONDO:MONDO:0030693,MedGen:C5676930,OMIM:619774	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.058	B	0.005	B	0.639	N	1.000	N	1.1	L	2.24	T	-0.986	T	0.028	T	0.251	1.997	12.63	-2.15	-0.034	0.077	8.615	0.049	0.00483390802775	.	0.000599042	0.0002	9.612e-05	8.639e-05	0	0	0	0	0.0013	0.0001682	26	154602	rs574879811	4.859e-05	4.857e-05	2.315e-05	7.428e-05	0.0007	3.928e-05	3.606e-05	0.0005	0.0005	2.988e-05	4.472e-05	0	0	0	0.0007	2.699e-06	8.283e-05	0.0006	3.942e-05	3.937e-05	2.571e-05	5.376e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	4.815e-05	0	0	0	0	0	0	0	0	0.0008	0.186	0.21467	T	0.307	0.20615	T	0.058	0.22967	B	0.005	0.11217	B	0.638861	0.10618	N	0.841183	1	0.08975	N	1.845	0.48678	L	2.24	0.17923	T	-1.07	0.27876	N	0.263	0.36359	-0.9862	0.33542	T	0.028	0.12014	T	10	0.013765395	0.00291	T	0.004834	0.12098	T	0.049	0.13647	0.435	0.48664	0.110078149338	0.10416	0.22033651009982816	0.21948	0.282174067458	0.30679	0.415889680386	0.27271	T	0.169107	0.51637	T	-0.503203	0.00548	T	-0.57358	0.15123	T	0.0432850219708577	0.04289	T	0.827017	0.49049	T	0.08708557	0.20267	0.043235645	0.05332	0.08708557	0.20266	0.043235645	0.05331	-8.494	0.66933	D	.	.	0.081	0.08033	B	.;.;.;.	.;.;.;.	1.182339	0.15731	12.06	0.88207985262894839	0.17798	0.05502	0.11389	N	AEFDBI	0.056892	0.10553	N	-0.865937033076602	0.11660	0.5639068	-0.885679593804264	0.12433	0.6394948	7.25582715831784E-4	0.07704	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.88	-2.15	0.06705	0.063000	0.14285	-0.219000	0.10781	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.861000	0.40843	0.0841:0.0:0.2364:0.6795	8.615	0.32990	846	0.36215	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1188.98	36	chr19	48143892	.	G	A	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.968;DP=996;ExcessHet=0.0000;FS=3.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.934;SOR=0.769	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1203,0,1072	20	0	1	0
chr19	49597448	49597459	CGCCACCACCCC	-	exonic	PRR12	.	nonframeshift deletion	PRR12:NM_020719:exon4:c.3113_3124del:p.P1046_P1049del,	.	.	.	.	.	.	.	.	.	.	.	2818590	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs938252556	2.163e-06	2.052e-06	1.423e-06	2.923e-06	5.622e-05	5.8e-07	1.6e-07	9.31e-06	3.48e-06	0	5.622e-05	0	0	0	0	9.279e-07	0	0	6.578e-06	6.564e-06	0	1.346e-05	2.41e-05	0	0	.	.	2.41e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2204.94	44	chr19	49597447	.	GCGCCACCACCCC	G	2204.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.050e-01;DP=921;ExcessHet=0.0000;FS=0.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=1.55;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,59:148:99:0|1:49597447_GCGCCACCACCCC_G:2219,0,3298:49597447	20	0	1	0
chr19	49960123	49960135	CAGGCCACACTCA	-	splicing	SIGLEC11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0079	.	0.0002	0	0.0003	0	0	0.0004	0	0	7.68e-05	2	26028	rs756941705	0.0010	0.0010	0.0010	0.0010	0.0014	0.0009	0.0009	0.0011	0.0010	0.0003	0.0014	0.0007	0.0001	4.316e-05	0.0013	0.0011	0.0015	0.0002	0.0010	0.0011	0.0010	0.0010	0.0024	0.0009	0.0008	0.0017	0.0015	0.0003	0	0.0024	0.0009	0.0004	0	0	0.0014	0.0026	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.12	10	chr19	49960122	.	CCAGGCCACACTCA	C	1161.12	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.411;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0320;MLEAC=1;MLEAF=0.024;MQ=36.15;MQRankSum=-2.810e-01;QD=11.16;ReadPosRankSum=-2.970e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/1:71,33:104:99:1175,0,2812	20	0	1	0
chr19	52511711	52511711	C	T	exonic	ZNF578	.	nonsynonymous SNV	ZNF578:NM_001099694:exon6:c.C1330T:p.R444C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.001	B	.	.	1.000	N	2.1	M	.	.	-1.021	T	0.082	T	0.267	-1.091	0.151	-2.97	-2.699	-8.771	1.324	0.052	0.00174644803208	.	.	3.305e-05	0	0.0002	0	0	0	0	0.0001	3.23e-05	5	154602	rs758250588	3.285e-05	3.42e-05	1.77e-05	4.814e-05	0.0003	2.544e-05	2.25e-05	0.0002	0.0002	0	0	0	0	0	0	1.619e-05	4.969e-05	0.0003	2.662e-05	0.0001	1.3e-05	4.093e-05	0.0004	8.22e-06	5.19e-06	7.462e-05	3.093e-05	0	0	0	0	0	0	0	1.48e-05	0.0005	0.0004	.	.	.	0.144	0.33109	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.875	0.49914	L	1.72	0.26588	T	.	.	.	0.092	0.07125	-1.0206	0.23519	T	0.082	0.32207	T	7	0.041138887	0.02743	T	0.001746	0.02934	T	.	.	.	.	0.0297737177859	0.01360	0.021640023892193952	0.02116	0.021238003613	0.02100	.	.	.	0.015776	0.13166	T	-0.492691	0.00628	T	-0.640946	0.09600	T	0.0525230057537556	0.05937	T	0.160284	0.01445	T	0.04737168	0.08085	0.031216212	0.01680	0.04737168	0.08084	0.031216212	0.01680	-3.669	0.18861	T	.	.	0.334	0.55514	B	.	.	0.020698	0.04427	1.160	0.44684306736629292	0.03453	0.00208	0.01187	N	AEFBI	0.037655	0.05210	N	-1.74276762719818	0.00701	0.03026131	-1.94139094120837	0.00405	0.01788807	0.0765639579589399	0.15732	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.48	-2.97	0.05195	-7.284000	0.00050	.	.	-0.585000	0.04679	0.000000	0.06391	.	.	0.000000	0.00833	0.3123:0.3732:0.1237:0.1907	1.324	0.01994	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2292.98	77	chr19	52511711	.	C	T	2292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=2388;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=-7.500e-02;SOR=0.687	GT:AD:DP:GQ:PL	0/1:77,81:158:99:2307,0,1961	20	0	1	0
chr19	53809587	53809587	A	G	exonic	NLRP12	.	nonsynonymous SNV	NLRP12:NM_001277126:exon3:c.T2072C:p.L691P	Familial cold autoinflammatory syndrome 2, Autosomal dominant	YES	.	.	.	.	.	.	.	0	0.02	573401	not_provided|Familial_cold_autoinflammatory_syndrome_2	MedGen:C3661900|MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.013	B	0.007	B	0.053	N	1.000	D	-0.345	N	-0.81	T	-0.962	T	0.154	T	0.097	0.025	4.144	-2.34	-0.395	-1.451	6.484	0.141	0.00713145870852	.	.	9.723e-05	0	0.0003	0	0	0	0.0012	0.0004	7.76e-05	12	154602	rs760012636	2.878e-05	2.941e-05	1.5e-05	4.27e-05	0.0005	2.155e-05	1.911e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	1.334e-05	1.325e-05	1.298e-05	1.372e-05	0.0004	2.22e-06	8.3e-07	7.358e-05	3.054e-05	0	0	0	0	0	0	0	0	0	0.0004	0.117	0.28271	T	0.29	0.27767	T	0.002	0.09854	B	0.002	0.06944	B	0.052896	0.02042	N	2.790460	0.86114	0.35390	D	.	.	.	-0.81	0.74583	T	-0.66	0.27052	N	0.078	0.23632	-0.9623	0.38742	T	0.154	0.48395	T	9	0.052826792	0.05378	T	0.007131	0.18896	T	0.141	0.37795	0.682	0.81982	0.369309618794	0.36543	0.457274139955519	0.45645	0.0794704111135	0.08936	0.403600811958	0.25570	T	0.278674	0.65133	T	-0.423316	0.01629	T	-0.523874	0.19903	T	0.0167588405311108	0.00432	T	0.347365	0.07649	T	0.060999013	0.12583	0.094483085	0.22367	0.060999013	0.12582	0.094483085	0.22366	-3.348	0.16996	T	.	.	0.057	0.00514	B	.;.;.;.;.	.;.;.;.;.	-0.053497	0.03926	0.871	0.48288405559316361	0.04017	0.00664	0.02871	N	AEFDGBHCI	0.023115	0.01244	N	-1.44365984699833	0.02267	0.09992838	-1.49943750828969	0.02349	0.1079155	0.99999968164284	0.74766	0.658043	0.49183	0	0.615948	0.52940	0	0.659943	0.59835	0	0.526803	0.08958	0	.	.	2.7	-2.34	0.06321	-2.958000	0.00739	.	.	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.5676:0.0:0.4324:0.0	6.484	0.21279	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	467.98	44	chr19	53809587	.	A	G	467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e+00;DP=1017;ExcessHet=0.0000;FS=8.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.65;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-1.900e-01;SOR=0.111	GT:AD:DP:GQ:PL	0/1:21,19:40:99:482,0,647	20	0	1	0
chr19	53873617	53873617	C	G	exonic	MYADM	.	nonsynonymous SNV	MYADM:NM_001020818:exon2:c.C88G:p.R30G	.	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.649	P	0.097	B	0.028	N	1.000	N	0	N	.	.	-1.027	T	0.028	T	0.396	1.108	9.519	1.64	0.230	0.397	9.825	0.070	0.00535916803448	0.0008	0.000798722	0.0010	0	0.0003	0	0	0.0004	0.0022	0.0053	0.0008344	129	154602	rs150547635	0.0007	0.0007	0.0005	0.0009	0.0061	0.0006	0.0006	0.0057	0.0055	2.987e-05	0.0002	3.826e-05	0	5.617e-05	0.0043	0.0003	0.0009	0.0061	0.0004	0.0004	0.0004	0.0003	0.0041	0.0003	0.0003	0.0027	0.0023	7.216e-05	0	6.537e-05	0	0	0	0.0034	0.0004	0.0005	0.0041	0.083	0.37326	T	0.192	0.54159	T	0.649	0.40609	P	0.097	0.30390	B	0.027501	0.25748	N	0.232108	1	0.08975	N	0	0.06538	N	.	.	.	-1.99	0.47008	N	0.469	0.57006	-1.0273	0.21331	T	0.028	0.12190	T	9	0.0064009726	0.00145	T	0.005359	0.13740	T	0.070	0.20419	.	.	0.0482279557977	0.04254	0.41748526974413114	0.41664	0.478033407144	0.46893	0.579204559326	0.49974	T	0.021679	0.30149	T	-0.400738	0.02290	T	-0.346352	0.39623	T	0.0193615758128243	0.00641	T	0.749425	0.38803	T	0.21697219	0.44169	0.15890877	0.37086	0.21697219	0.44169	0.15890877	0.37085	-6.197	0.47898	T	.	.	0.248	0.48261	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.552415	0.33039	19.22	0.98151324419597863	0.38688	0.29574	0.23857	N	AEFDBHCI	0.239669	0.36158	N	-0.675706972574033	0.16715	0.8540628	-0.662413511955786	0.17904	0.954078	0.999021253529424	0.38237	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.94	1.64	0.22949	0.136000	0.15794	.	.	0.545000	0.25583	0.079000	0.22314	0.462000	0.25007	0.461000	0.28141	0.5385:0.4615:0.0:0.0	9.825	0.40071	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	0.02381	1677.98	34	chr19	53873617	.	C	G	1677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=794;ExcessHet=0.0000;FS=5.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.48;ReadPosRankSum=-8.740e-01;SOR=1.242	GT:AD:DP:GQ:PL	0/1:37,59:96:99:1692,0,877	20	0	1	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	600.4	37	chr19	54221344	.	C	CCGG	600.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.898e+00;DP=997;ExcessHet=1.1607;FS=102.301;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=33.45;MQRankSum=1.66;QD=2.24;ReadPosRankSum=-2.823e+00;SOR=6.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,9:44:99:0|1:54221256_T_C:273,0,1443:54221256	16	0	5	0
chr19	54221348	54221348	-	ACTGAG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.689_690insCTCAGT:p.Q231_A630delinsSVQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	.	40	1377	86	2	17	107	0.0316456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.611e-05	0.0006	2.863e-05	2.352e-05	0.0004	1.911e-05	1.696e-05	0.0002	0.0002	0.0003	0.0004	0	8.523e-05	4.043e-05	0	6.539e-06	3.528e-05	2.565e-05	2.706e-05	0.0007	0	5.539e-05	7.634e-05	8.32e-06	5.26e-06	2.024e-05	1.061e-05	7.634e-05	0	0	0	0	0	0	1.488e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	159.07	38	chr19	54221348	.	C	CACTGAG	159.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.545;DP=1000;ExcessHet=0.1072;FS=70.313;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=33.75;MQRankSum=0.809;QD=1.79;ReadPosRankSum=-2.003e+00;SOR=6.090	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,6:42:99:0|1:54221256_T_C:143,0,1489:54221256	19	0	2	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,100,0:362:99:0|1:54633108_T_G:3410,0,10560,4199,10861,15060:54633108	1	0	19	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/1:175,73:248:99:1343,0,4859	4	0	16	1
chr19	54741995	54741995	C	G	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C86G:p.P29R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	N	3.265	M	5.21	T	-0.991	T	0.181	T	0.521	1.640	11.44	1.6	1.216	0.359	6.677	0.042	0.000828170615736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	0.0001	1.367e-06	1.38e-06	1.162e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.026e-07	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.19238	N	3.2	0.89116	M	1.68	0.27184	T	-6.87	0.93175	D	0.611	0.62781	-0.9911	0.32321	T	0.181	0.52858	T	9	0.72211933	0.73732	D	8.28E-4	0.00691	T	0.042	0.11227	0.482	0.56302	0.519675384768	0.51611	0.4145345915027815	0.41369	3.14057088863	0.99419	.	.	.	0.394193	0.75340	T	-0.0852527	0.38857	T	-0.360236	0.38026	T	0.899505424961632	0.55182	D	.	.	.	0.5138579	0.67905	0.30031213	0.56065	0.5138579	0.67906	0.30031213	0.56064	-10.534	0.77042	D	.	.	0.704	0.73124	P	.	.	2.246951	0.28697	17.88	0.99426336285439565	0.64032	0.02155	0.06334	N	AEFI	0.033680	0.04042	N	-0.0862229983803219	0.37997	2.218774	-0.416222882557366	0.24521	1.343211	5.77689045962818E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	1.6	0.22686	0.742000	0.25884	.	.	0.303000	0.18983	0.005000	0.17040	0.001000	0.17328	0.014000	0.10232	0.0:1.0:0.0:0.0	6.677	0.22289	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	109.78	144	chr19	54741995	.	C	G	109.78	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.125e+00;DP=3541;ExcessHet=0.0000;FS=64.064;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=43.22;MQRankSum=-8.830e-01;QD=0.81;ReadPosRankSum=2.31;SOR=6.203	GT:AD:DP:GQ:PL	0/1:125,10:141:99:106,0,4885	19	0	1	1
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S	.	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.008	B	.	.	1.000	N	-1.815	N	2.81	T	-0.959	T	0.005	T	0.163	-2.574	0.003	-2.83	-0.824	-0.505	4.673	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;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	33079.42	37	chr19	54804874	.	A	G,C	33079.42	.	AC=12,3;AF=0.286,0.071;AN=42;BaseQRankSum=1.71;DP=3078;ExcessHet=3.1640;FS=0.523;InbreedingCoeff=-0.1340;MLEAC=12,3;MLEAF=0.286,0.071;MQ=59.39;MQRankSum=-3.020e+00;QD=12.12;ReadPosRankSum=0.071;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:213,128,0:341:99:.:.:3053,0,5636,3691,6020,9712	8	1	9	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:174,0,99:273:99:0|1:54847190_C_T:3633,4157,11443,0,7286,6988:54847190	4	0	11	0
chr19	54983434	54983434	C	T	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.C1670T:p.P557L	.	.	1	1509	12	0	0	12	0.0039604	.	.	3213726	NLRP2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.025	B	0.005	B	0.006	N	1.000	N	0.755	N	-0.68	T	-0.991	T	0.209	T	0.172	-2.533	0.003	-3.32	-1.175	-3.127	4.392	0.047	.	0.0007	0.00299521	0.0021	0.0003	0.0004	0	0	0.0008	0.0011	0.0119	0.0019017	294	154602	rs149897717	0.0014	0.0014	0.0012	0.0017	0.0109	0.0014	0.0014	0.0104	0.0101	0.0002	0.0003	0.0007	2.519e-05	0	0.0028	0.0009	0.0014	0.0109	0.0008	0.0008	0.0007	0.0009	0.0100	0.0007	0.0006	0.0077	0.0069	0.0002	0	0.0004	0.0003	0	0	0.0034	0.0008	0.0009	0.0100	1.0	0.00964	T	0.33	0.18675	T	0.015	0.19245	B	0.002	0.11217	B	0.005687	0.01090	N	3.947260	1	0.08975	N	0.61	0.15665	N	-0.8	0.73845	T	0.66	0.02638	N	0.12	0.11197	-0.9913	0.32270	T	0.209	0.56906	T	10	0.0066336095	0.00150	T	.	.	.	0.047	0.12962	.	.	0.523650220922	0.52011	0.09322517985177575	0.09254	0.0456806916263	0.04958	0.233090355992	0.02204	T	0.021155	0.16527	T	-0.506753	0.00524	T	-0.491297	0.23255	T	0.000592152556546238	0.00005	T	.	.	.	0.019879818	0.00529	0.02972352	0.01343	0.019879818	0.00529	0.02972352	0.01343	-4.284	0.28302	T	.	.	0.095	0.16670	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.368701	0.00383	0.007	0.32901926915320839	0.01931	0.01018	0.03833	N	AEFDGBI	0.058314	0.10932	N	-1.73101622409608	0.00737	0.03184456	-1.84456676417532	0.00627	0.02786181	0.00494558523825066	0.10771	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	1.79	-3.32	0.04663	-1.623000	0.02143	.	.	-1.102000	0.01507	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.482:0.2189:0.2992	4.392	0.10775	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3228.98	40	chr19	54983434	.	C	T	3228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.336;DP=1623;ExcessHet=0.0000;FS=4.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-6.270e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:118,122:240:99:3243,0,3092	20	0	1	0
chr19	55048715	55048715	C	T	exonic	RDH13	.	nonsynonymous SNV	RDH13:NM_001145971:exon4:c.G389A:p.C130Y	.	.	.	.	.	.	.	.	.	.	.	757251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.992	D	0.000	D	1.000	D	0	N	-2.22	D	0.376	D	0.599	D	0.911	4.299	22.5	5.18	2.598	4.348	16.608	0.649	0.115121233072	.	0.000798722	0.0007	0.0001	8.678e-05	0	0	0	0	0.0051	0.0005886	91	154602	rs539354138	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0044	0	0	0	0	0	0	8.993e-07	0.0003	0.0050	0.0002	0.0002	9.011e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0	0.0054	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	-0.105	0.04674	N	-2.22	0.87038	D	-10.63	0.99124	D	0.67	0.67822	0.376	0.88743	D	0.599	0.85727	D	10	0.015749037	0.00331	T	0.115121	0.79420	D	0.649	0.86736	0.545	0.65873	0.859959944548	0.85860	0.7218706171100752	0.72131	0.509093297379	0.49051	0.714072108269	0.69184	T	0.470646	0.80368	T	0.0604829	0.59674	T	0.314644	0.88862	D	0.43661031126976	0.30304	T	.	.	.	0.91164726	0.92449	0.8509525	0.91568	0.91164726	0.92450	0.8509525	0.91568	-12.112	0.95924	D	.	.	0.919	0.84137	P	.;.;.	.;.;.	4.866410	0.79681	27.2	0.99717162634515277	0.81773	0.91328	0.53312	D	AEFDGBCI	0.723067	0.67280	D	0.416794518903179	0.62345	4.448951	0.456512613299284	0.65137	4.785819	0.99999997802557	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	4.759000	0.61924	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0:1.0:0.0:0.0	16.608	0.84689	982	0.03397	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2234.98	35	chr19	55048715	.	C	T	2234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.147e+00;DP=982;ExcessHet=0.0000;FS=1.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-2.270e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:91,97:188:99:2249,0,2460	20	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,71,0:71:99:.:.:3170,219,0,3170,219,3170	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,71,0:71:99:.:.:3170,219,0,3170,219,3170	0	18	2	0
chr19	56208993	56208993	G	C	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.G1284C:p.K428N,	.	.	415	1077	29	1	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	.	.	1.000	N	.	.	3.19	T	-0.962	T	0.018	T	0.022	1.195	9.857	-1.27	-0.237	-5.119	4.086	0.007	.	.	0.00439297	0.0075	0.0012	0.0067	0	0.0023	0.0087	0.0068	0.0131	0.0069469	1074	154602	rs184245764	0.0087	0.0087	0.0085	0.0089	0.0123	0.0086	0.0085	0.0108	0.0105	0.0018	0.0048	0.0054	2.519e-05	0.0032	0.0123	0.0095	0.0090	0.0114	0.0064	0.0064	0.0066	0.0062	0.0130	0.0060	0.0059	0.0105	0.0095	0.0016	0.0175	0.0053	0.0063	0	0.0023	0.0068	0.0100	0.0067	0.0130	0.09	0.31987	T	0.232	0.24987	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.19	0.07353	T	-1.2	0.30555	N	0.065	0.05162	-0.9619	0.38819	T	0.018	0.07282	T	6	0.0041446984	0.00082	T	.	.	.	0.007	0.00512	0.32	0.29902	0.0666544352282	0.05500	0.05525170380058242	0.05466	0.00738871656898	0.00648	.	.	.	0.004527	0.03938	T	-0.791495	0.00009	T	-0.899316	0.00508	T	0.00919239028083951	0.00116	T	0.80082	0.44648	T	0.049057763	0.08650	0.042417493	0.05048	0.049057763	0.08649	0.042417493	0.05048	-2.274	0.04415	T	.	.	0.843	0.80310	P	.;.	.;.	0.223470	0.06054	2.498	0.98700064067545512	0.44895	0.00311	0.01644	N	AEFDGBI	0.023980	0.01414	N	-0.905582697636106	0.10710	0.5131586	-1.13804793676242	0.06984	0.3380995	0.00302296144270454	0.09875	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	1.38	-1.27	0.08863	-4.396000	0.00275	.	.	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1788:0.4776:0.3435:0.0	4.086	0.09422	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3556.98	38	chr19	56208993	.	G	C	3556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=1108;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.25;MQRankSum=-1.920e-01;QD=12.02;ReadPosRankSum=-1.680e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:156,140:296:99:3571,0,4211	20	0	1	0
chr19	56442541	56442541	T	C	exonic	ZNF667	.	nonsynonymous SNV	ZNF667:NM_022103:exon5:c.A454G:p.T152A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.015	B	0.166	N	1.000	N	-0.605	N	3.3	T	-0.925	T	0.005	T	0.067	-2.709	0	1.57	0.349	-1.434	2.989	0.008	0.00360578796225	.	.	3.298e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs771408070	1.505e-05	1.505e-05	4.084e-06	2.613e-05	0.0002	9.85e-06	8.41e-06	0.0002	0.0001	0	0	0	0	0	0	0	3.312e-05	0.0002	1.971e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.608	0.05501	T	0.952	0.02603	T	0.009	0.15093	B	0.009	0.14300	B	0.166267	0.17509	N	0.480332	1	0.19363	N	-0.275	0.03743	N	3.3	0.18414	T	-1.07	0.27876	N	0.089	0.06720	-0.9249	0.44872	T	0.005	0.01833	T	10	0.022242397	0.00551	T	0.003606	0.08247	T	0.008	0.00669	.	.	0.214338557667	0.21045	0.053349538352234584	0.05276	0.142486000696	0.16072	0.28199467063	0.07773	T	0.002921	0.02319	T	-0.576148	0.00203	T	-0.785938	0.02279	T	0.0286830649114241	0.01789	T	0.667933	0.27701	T	0.07321644	0.16345	0.042250976	0.04990	0.07321644	0.16345	0.042250976	0.04989	-3.072	0.10977	T	.	.	0.114	0.22609	B	.;.;.	.;.;.	0.667287	0.10358	7.085	0.14692308401265505	0.00333	0.05175	0.10993	N	AEFBI	0.078584	0.15857	N	-1.34903624553977	0.03135	0.1395537	-1.23516987327386	0.05354	0.2549022	1.21084843415521E-5	0.02871	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	4.86	1.57	0.22490	-2.061000	0.01478	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.336:0.1843:0.0:0.4797	2.989	0.05613	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1729.98	149	chr19	56442541	.	T	C	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=2466;ExcessHet=0.0000;FS=4.852;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=1.17;SOR=0.692	GT:AD:DP:GQ:PL	0/1:85,67:152:99:1744,0,2259	20	0	1	0
chr19	58498582	58498582	G	C	exonic	SLC27A5	.	nonsynonymous SNV	SLC27A5:NM_001321196:exon10:c.C1754G:p.A585G	.	.	424	1054	43	1	0	45	0.0209011	.	.	269235	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.004	B	0.015	B	0.017	N	1.000	N	0.725	N	0.62	T	-1.055	T	0.055	T	0.148	0.732	7.891	2.51	1.137	0.058	9.675	0.022	.	0.0062	0.00439297	0.0072	0.0010	0.0091	0	0.0044	0.0087	0.0125	0.0084	0.0068757	1063	154602	rs145618122	0.0063	0.0063	0.0060	0.0065	0.0225	0.0062	0.0061	0.0194	0.0182	0.0007	0.0087	0.0523	0	0.0033	0.0225	0.0051	0.0102	0.0087	0.0054	0.0054	0.0054	0.0054	0.0102	0.0051	0.0050	0.0079	0.0071	0.0008	0	0.0071	0.0527	0	0.0033	0.0204	0.0057	0.0123	0.0102	0.14	0.25664	T	0.14	0.33554	T	0.004	0.12183	B	0.015	0.17295	B	0.016500	0.27965	N	0.370857	1	0.08975	N	2.18	0.61292	M	-1.05	0.76690	T	-1.7	0.40468	N	0.164	0.26475	-1.0548	0.13093	T	0.055	0.23186	T	10	0.003809452	0.00071	T	.	.	.	0.022	0.04323	.	.	0.657588586956	0.65472	0.27433375528701	0.27346	0.295824562722	0.31980	0.273551166058	0.06608	T	0.132586	0.46276	T	-0.431819	0.01445	T	-0.387364	0.34861	T	0.00934378138432285	0.00119	T	0.680532	0.28920	T	0.11716695	0.27626	0.09850016	0.23484	0.11716695	0.27626	0.09850016	0.23484	-6.486	0.52171	T	.	.	0.093	0.14062	B	.;.;.	.;.;.	1.351631	0.17595	13.26	0.95864334032436205	0.28030	0.07487	0.13503	N	AEFBI	0.283998	0.39697	N	-0.80902216731682	0.13079	0.6418616	-0.788469485847166	0.14778	0.7739335	0.999996703293463	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	4.85	2.51	0.29435	0.397000	0.20608	3.576000	0.39140	0.676000	0.76740	0.000000	0.06391	0.982000	0.30508	0.120000	0.19168	0.0:0.0:0.6228:0.3772	9.675	0.39199	866	0.32446	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	820.98	36	chr19	58498582	.	G	C	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.170e-01;DP=802;ExcessHet=0.0000;FS=0.851;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=-1.258e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/1:52,33:85:99:835,0,1485	20	0	1	0
chr19	58562353	58562353	C	T	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_003422:exon6:c.G1924A:p.E642K	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.912	P	0.221	B	0.006	N	1.000	N	0.505	N	1.3	T	-1.042	T	0.019	T	0.271	2.311	13.68	3.06	2.014	-0.267	9.839	0.077	0.008372750662	.	0.00199681	0.0005	0	0	0.0054	0	3.57e-05	0	0.0007	0.0004463	69	154602	rs115386056	0.0008	0.0008	0.0008	0.0009	0.0289	0.0008	0.0008	0.0275	0.0270	0	2.438e-05	0	0.0289	0	0.0002	1.809e-05	0.0003	0.0006	0.0004	0.0004	0.0003	0.0004	0.0095	0.0003	0.0003	0.0072	0.0064	0	0	7.279e-05	0	0.0095	0	0	1.597e-05	0.0005	0.0019	0.202	0.20230	T	0.936	0.02725	T	0.912	0.50421	P	0.221	0.37837	B	0.005620	0.32654	N	0.000000	1	0.08975	N	-0.51	0.02586	N	1.3	0.35590	T	-0.56	0.17003	N	0.396	0.44283	-1.0415	0.16860	T	0.019	0.08173	T	10	0.010908425	0.00241	T	0.008373	0.22156	T	0.077	0.22490	.	.	0.533808175679	0.53030	0.13240838619643283	0.13164	1.84979452733	0.92269	0.835794210434	0.87451	D	0.095881	0.39712	T	-0.559918	0.00254	T	-0.534565	0.18833	T	0.0413714613029522	0.03940	T	0.0868913	0.00638	T	0.12394893	0.29094	0.10659251	0.25645	0.12394893	0.29094	0.10659251	0.25645	-8.37	0.63565	D	.	.	0.964	0.89226	P	.;.	.;.	3.519027	0.49320	22.8	0.99734619113182021	0.83047	0.03086	0.08007	N	AEFDGBHIJ	0.058803	0.11059	N	-0.433636401983396	0.24298	1.311	-0.430916530293502	0.24095	1.317571	0.999999906846603	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	3.06	3.06	0.34374	-0.763000	0.04846	-0.141000	0.11517	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.952000	0.50033	0.0:1.0:0.0:0.0	9.839	0.40157	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2014.98	35	chr19	58562353	.	C	T	2014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.570;DP=982;ExcessHet=0.0000;FS=3.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=0.182;SOR=1.058	GT:AD:DP:GQ:PL	0/1:68,74:142:99:2029,0,1749	20	0	1	0
chr20	427472	427472	G	A	exonic	RBCK1	.	nonsynonymous SNV	RBCK1:NM_001323958:exon7:c.G679A:p.V227I	Polyglucosan body myopathy 1 with or without immunodeficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	446236	Polyglucosan_body_myopathy_type_1|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014389,MedGen:C4014605,OMIM:615895,Orphanet:329173,Orphanet:397937|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.295	B	0.016	B	0.517	N	1.000	N	1.01	L	-1.41	T	-0.913	T	0.261	T	0.083	1.608	11.34	-0.538	-0.133	-0.128	7.349	0.118	0.0145325579485	.	.	3.298e-05	0	0	0.0002	0	3e-05	0	0	3.88e-05	6	154602	rs538961301	6.022e-05	6.02e-05	7.081e-05	4.952e-05	0.0001	4.963e-05	4.628e-05	5.797e-05	5.366e-05	0.0001	6.709e-05	0	5.038e-05	0	0	7.104e-05	0	0	9.202e-05	9.194e-05	8.995e-05	9.418e-05	0.0002	5.529e-05	4.366e-05	9.048e-05	7.012e-05	4.827e-05	0	0	0	0	9.422e-05	0	0.0002	0	0	0.425	0.28900	T	0.211	0.26631	T	0.001	0.32424	B	0.003	0.17743	B	0.517240	0.11781	N	0.791041	1	0.08975	N	0.895	0.22405	L	-1.41	0.80560	T	-0.35	0.12847	N	0.109	0.14763	-0.9135	0.46415	T	0.261	0.63143	T	10	0.060768366	0.07515	T	0.014533	0.34707	T	0.118	0.32913	.	.	0.514472708086	0.51089	0.2926267430239313	0.29175	0.335875025111	0.35593	0.377890646458	0.21956	T	0.279719	0.65241	T	-0.33669	0.05621	T	-0.45698	0.26929	T	0.00853243320947929	0.00104	T	0.860814	0.55431	D	0.017145239	0.00250	0.030895151	0.01603	0.017145239	0.00249	0.030895151	0.01603	-4.786	0.34428	T	0.17607287725595686	0.22449	0.064	0.03026	B	.;.;.;.	.;.;.;.	0.732501	0.11018	7.675	0.94910288687132149	0.25773	0.09417	0.15177	N	AEFBHCI	0.061098	0.11657	N	-0.84180218514122	0.12253	0.5960922	-0.849954153591957	0.13289	0.6885428	0.790263928127908	0.24003	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.75	-0.538	0.11275	-0.102000	0.10926	-1.024000	0.06570	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.4815:0.0:0.5185:0.0	7.349	0.25856	763	0.50172	IBR domain;IBR domain;.;IBR domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	685.98	33	chr20	427472	.	G	A	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.852;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.54;ReadPosRankSum=-5.070e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/1:59,32:91:99:700,0,1446	20	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:63,31:102:79:79,0,956	5	0	16	0
chr20	6041600	6041600	A	T	exonic	LRRN4	.	nonsynonymous SNV	LRRN4:NM_152611:exon5:c.T1645A:p.Y549N,	.	.	416	1100	6	0	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.922	D	0.000	D	1.000	D	2.61	M	-1.67	D	0.432	D	0.629	D	0.725	3.907	19.87	5.01	1.880	5.761	14.732	0.624	0.215719070692	0.0052	0.00119808	0.0038	0.0016	0.0010	0	0.0008	0.0058	0.0038	0.0016	0.0039715	614	154602	rs145844426	0.0065	0.0065	0.0067	0.0064	0.0080	0.0064	0.0064	0.0079	0.0078	0.0007	0.0014	8.734e-05	0	0.0012	0	0.0080	0.0049	0.0018	0.0039	0.0039	0.0041	0.0036	0.0064	0.0036	0.0035	0.0059	0.0057	0.0012	0.0429	0.0017	0	0	0.0026	0.0034	0.0064	0.0009	0.0019	0.004	0.65419	D	0.013	0.63109	D	0.995	0.67487	D	0.922	0.65739	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.9	0.83903	M	-1.67	0.82806	D	-7.95	0.96317	D	0.829	0.82458	0.432	0.89576	D	0.629	0.86989	D	10	0.042655647	0.03035	T	0.215719	0.87522	D	0.624	0.85459	.	.	0.716914997584	0.71442	0.5077078270125617	0.50692	1.59197675945	0.88537	0.579379916191	0.49998	T	0.247545	0.61720	T	-0.118374	0.33390	T	0.066582	0.74683	D	0.0515867382445556	0.05775	T	0.846715	0.52677	T	0.7661571	0.81818	0.7134283	0.83090	0.7661571	0.81819	0.7134283	0.83091	-11.822	0.83973	D	.	.	0.745	0.74854	P	.	.	4.785229	0.77595	26.7	0.99064892544480621	0.51574	0.96091	0.67491	D	AEFDBCI	0.764956	0.70159	D	0.653061064475797	0.76567	6.510378	0.587334835685367	0.74031	6.068433	0.999995352873776	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	5.556000	0.67011	11.108000	0.86264	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	1.0:0.0:0.0:0.0	14.732	0.69002	773	0.48803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1524.98	38	chr20	6041600	.	A	T	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=852;ExcessHet=0.0000;FS=4.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-1.930e-01;SOR=0.687	GT:AD:DP:GQ:PL	0/1:82,58:140:99:1539,0,2240	20	0	1	0
chr20	16379769	16379769	C	T	exonic	KIF16B	.	nonsynonymous SNV	KIF16B:NM_001199865:exon19:c.G2233A:p.E745K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.459	P	0.16	B	0.010	N	0.992	D	1.78	L	2.24	T	-1.107	T	0.039	T	0.286	1.194	9.854	2.39	0.246	4.217	8.116	0.087	0.0358879983977	.	.	9.06e-05	0	8.637e-05	0	0	0	0	0.0006	7.12e-05	11	154602	rs779078003	3.968e-05	3.967e-05	1.77e-05	6.188e-05	0.0006	3.113e-05	2.846e-05	0.0005	0.0005	0	0	0	0	0	0	8.993e-07	3.311e-05	0.0006	3.286e-05	3.284e-05	1.285e-05	5.381e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0.0002	0	0	0	0	0.0008	0.004	0.65419	D	0.099	0.38891	T	0.055	0.36338	B	0.02	0.34752	B	0.009898	0.30155	N	0.365080	0.991946	0.41514	D	2.455	0.71248	M	2.24	0.17923	T	-1.25	0.37375	N	0.157	0.16308	-1.1073	0.03312	T	0.039	0.16806	T	10	0.049644083	0.04584	T	0.035888	0.56637	D	0.087	0.25287	0.158	0.06178	0.370424759081	0.36655	0.4029416664763969	0.40210	0.142267948534	0.16037	0.311781436205	0.12175	T	0.061839	0.31759	T	-0.42892	0.01504	T	-0.489727	0.23420	T	0.108358255765594	0.13253	T	0.968103	0.88413	D	0.059403535	0.12068	0.04787757	0.06991	0.059403535	0.12068	0.04787757	0.06991	-6.852	0.52945	T	.	.	0.101	0.22861	B	.;.;.	.;.;.	2.643621	0.34402	19.62	0.98812447265994785	0.46639	0.87134	0.46583	D	AEFBI	0.562842	0.57027	D	-0.380685250459575	0.26158	1.425452	-0.391042856898579	0.25263	1.388249	0.00371113324631948	0.10248	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.45	2.39	0.28492	4.257000	0.58607	2.029000	0.30245	0.599000	0.40250	0.996000	0.39380	0.261000	0.23984	0.191000	0.21631	0.0:0.7165:0.1355:0.1479	8.116	0.30105	768	0.49510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2463.98	41	chr20	16379769	.	C	T	2463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.252e+00;DP=1236;ExcessHet=0.0000;FS=4.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.952;SOR=1.057	GT:AD:DP:GQ:PL	0/1:108,92:200:99:2478,0,3083	20	0	1	0
chr20	21348243	21348243	G	A	exonic	XRN2	.	nonsynonymous SNV	XRN2:NM_001317960:exon18:c.G1997A:p.G666D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.043	B	0.03	B	0.000	D	1.000	D	2.03	M	2.4	T	-1.110	T	0.061	T	0.436	2.455	14.17	5.4	2.679	4.984	19.522	0.074	0.00686068520987	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs762248559	1.163e-05	1.163e-05	5.446e-06	1.788e-05	0.0002	7.09e-06	5.79e-06	0.0001	9.459e-05	0	0	0	0	0	0.0002	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.35726	T	0.169	0.30534	T	0.043	0.21573	B	0.03	0.21741	B	0.000001	0.84330	D	0.094174	1	0.81001	D	1.45	0.36711	L	2.4	0.15608	T	-2.86	0.60188	D	0.259	0.29313	-1.1097	0.03096	T	0.061	0.25528	T	10	0.18567729	0.33999	T	0.006861	0.18149	T	0.074	0.21613	0.275	0.22687	0.043077524339	0.03247	0.7709108131897756	0.77040	0.403325221756	0.41274	0.77770793438	0.78582	T	0.379151	0.74197	T	-0.321581	0.06770	T	-0.407557	0.32507	T	0.164987159434447	0.18233	T	0.913709	0.69301	D	0.45230234	0.64187	0.48474336	0.70174	0.45230234	0.64187	0.48474336	0.70174	-8.435	0.63997	D	.	.	0.109	0.20780	B	.	.	2.972912	0.39627	21.0	0.98643919427789928	0.44096	0.95205	0.63827	D	AEFBI	0.583477	0.58268	D	0.163498113790668	0.49452	3.145519	0.313857982720834	0.56354	3.798555	0.952779769176838	0.28035	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.4	5.4	0.77957	5.047000	0.64042	7.650000	0.63651	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.522	0.95180	429	0.80881	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1185.98	38	chr20	21348243	.	G	A	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.142e+00;DP=793;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=0.185;SOR=0.841	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1200,0,1243	20	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:90,47:151:99:103,0,1605	2	0	19	0
chr20	35287226	35287226	C	T	exonic	FAM83C	.	nonsynonymous SNV	FAM83C:NM_178468:exon4:c.G1553A:p.R518Q,	.	.	423	1098	1	0	0	1	0.000455166	.	.	2244221	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.01	B	0.004	B	.	.	1.000	N	0.415	N	3.09	T	-0.952	T	0.013	T	0.103	1.400	10.62	2.03	1.096	0.023	4.913	0.025	0.00529952250874	7.9e-05	.	2.573e-05	0	0	0	0	3.151e-05	0	6.115e-05	1.94e-05	3	154602	rs377103295	1.78e-05	1.779e-05	1.09e-05	2.478e-05	0.0001	1.239e-05	1.052e-05	5.396e-05	4.042e-05	0	0	0	0	3.845e-05	0	8.993e-06	8.281e-05	0.0001	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.168	0.23007	T	0.506	0.10967	T	0.01	0.15535	B	0.004	0.10090	B	.	.	.	.	0.999999	0.08975	N	1.525	0.38595	L	3.09	0.08371	T	-0.11	0.08653	N	0.099	0.08088	-0.9523	0.40573	T	0.013	0.04890	T	9	0.045508504	0.03629	T	0.005	0.13556	T	0.025	0.05312	.	.	0.26547132957	0.26150	0.052633114055315434	0.05205	0.216455355565	0.24166	0.238932430744	0.02695	T	0.00542	0.04871	T	-0.465013	0.00914	T	-0.702135	0.05709	T	0.284556269645691	0.24363	T	0.738826	0.35731	T	0.051142346	0.09347	0.050932363	0.08096	0.051142346	0.09347	0.050932363	0.08095	-3.036	0.10574	T	.	.	0.083	0.09143	B	.	.	1.833906	0.23302	15.96	0.99583966469821317	0.73159	0.25210	0.22630	N	AEFBI	0.072276	0.14419	N	-0.518301878144587	0.21487	1.140746	-0.383791490417391	0.25480	1.401491	0.999610977148563	0.40981	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.14	2.03	0.25714	0.591000	0.23670	-0.775000	0.07479	0.599000	0.40250	0.733000	0.28953	0.000000	0.08366	0.961000	0.51904	0.0:0.6599:0.2208:0.1194	4.913	0.13185	412	0.82007	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1351.98	37	chr20	35287226	.	C	T	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=874;ExcessHet=0.0000;FS=1.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-7.100e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1366,0,1106	20	0	1	0
chr20	35652830	35652830	-	GGGCCG	exonic	RBM12	.	nonframeshift insertion	RBM12:NM_001198840:exon2:c.2492_2493insCGGCCC:p.P837_I838insGP	.	.	317	1072	122	8	3	141	0.0604733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4619.11	33	chr20	35652818	.	AGGGCCGGGGCCG	AGGGCCGGGGCCGGGGCCG,A	4619.11	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=1.02;DP=856;ExcessHet=0.0082;FS=5.219;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.83;ReadPosRankSum=2.37;SOR=0.690	GT:AD:DP:GQ:PL	1/2:0,30,29:59:99:2341,1170,1081,1189,0,1460	18	0	2	0
chr20	35652819	35652830	GGGCCGGGGCCG	-	exonic	RBM12	.	nonframeshift deletion	RBM12:NM_001198840:exon2:c.2493_2504del:p.G834_P837del	.	.	317	1072	122	8	3	141	0.0604733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	.	0.0003	0	0	0.0001	0	0.0002	0.0012	0.0009	0.0002005	31	154602	rs746941434	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	0.0003	0.0005	7.991e-05	0.0002	0	0.0014	0.0003	0.0003	0.0007	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	0.0001	0	0.0009	0	0.0004	0	0	0.0003	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4619.11	33	chr20	35652818	.	AGGGCCGGGGCCG	AGGGCCGGGGCCGGGGCCG,A	4619.11	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=1.02;DP=856;ExcessHet=0.0082;FS=5.219;InbreedingCoeff=0.4474;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.83;ReadPosRankSum=2.37;SOR=0.690	GT:AD:DP:GQ:PL	1/2:0,30,29:59:99:2341,1170,1081,1189,0,1460	18	0	2	0
chr20	36816248	36816248	C	T	exonic	SOGA1	.	nonsynonymous SNV	SOGA1:NM_080627:exon5:c.G1194A:p.M398I	.	.	428	1091	3	0	0	3	0.001373	.	.	2354747	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.995	D	0.000	D	1.000	D	2.085	M	2.02	T	-0.775	T	0.225	T	0.75	4.681	25.9	5.54	2.884	7.651	18.419	0.267	0.0172585906705	.	.	0.0002	0	0	0	0	6.077e-05	0	0.0011	0.0001294	20	154602	rs781677622	6.991e-05	7.114e-05	5.456e-05	8.542e-05	0.0012	5.858e-05	5.468e-05	0.0007	0.0006	0	0	0	0	0	0.0012	8.998e-06	0.0002	0.0009	2.634e-05	2.627e-05	0	5.393e-05	0.0006	8.15e-06	5.15e-06	0.0002	9.018e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.022	0.48642	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.080767	1	0.81001	D	.	.	.	1.97	0.22067	T	-3.77	0.72240	D	0.8	0.79599	-0.7746	0.56603	T	0.225	0.58957	T	10	0.2650839	0.44001	T	0.017259	0.38885	T	0.267	0.58126	0.28	0.23483	0.134007934775	0.12933	0.7030361936111599	0.70244	1.6732094712	0.89882	0.846959531307	0.89155	D	0.358627	0.72516	T	-0.186783	0.22731	T	-0.117782	0.61983	T	0.435702502727509	0.30271	T	0.950905	0.82144	D	.	.	.	.	.	.	.	.	-8.199	0.62419	D	.	.	0.990	0.93569	P	.;.	.;.	4.802523	0.78040	26.8	0.9976359786713408	0.85254	0.97221	0.73406	D	AEFDBCI	0.896894	0.83845	D	0.852610787670507	0.89258	9.897824	0.843850964114882	0.92653	11.551	0.999999999999997	0.74766	0.719381	0.83141	0	0.653731	0.59785	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	7.905000	0.86479	7.717000	0.67122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.419	0.90527	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1018.98	34	chr20	36816248	.	C	T	1018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.165e+00;DP=800;ExcessHet=0.0000;FS=0.774;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.554;SOR=0.596	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1033,0,1338	20	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T,	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.82	M	0.56	T	-0.099	T	0.396	T	0.851	4.753	26.6	5.27	2.134	8.040	15.488	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	69.59	45	chr20	41100210	.	T	C	69.59	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.482e+00;DP=972;ExcessHet=1.7912;FS=83.153;InbreedingCoeff=-0.1659;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.377;SOR=8.550	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,4:46:21:0|1:41100207_G_A:21,0,1487:41100207	15	0	6	0
chr20	45857313	45857313	-	ATCT	exonic	ACOT8	.	startloss	ACOT8:NM_005469:exon1:c.2_3insAGAT:p.M1?,	.	.	425	1040	53	4	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.029353	0.0253	0.0006	0.0021	0.0353	0.0008	0.0044	0.0100	0.1046	0.0014215	37	26028	rs201025211	0.0089	0.0090	0.0066	0.0112	0.0854	0.0087	0.0087	0.0838	0.0831	0.0011	0.0011	0.0061	0.0228	0.0003	0.0110	0.0033	0.0133	0.0854	0.0058	0.0059	0.0046	0.0072	0.0886	0.0055	0.0054	0.0817	0.0790	0.0005	0	0.0014	0.0084	0.0286	0	0.0204	0.0032	0.0099	0.0886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4857.64	34	chr20	45857313	.	C	CATCT	4857.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.298;DP=879;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.32;ReadPosRankSum=0.126;SOR=0.691	GT:AD:DP:GQ:PL	0/1:30,30:60:99:1169,0,1169	18	0	3	0
chr20	46199452	46199452	T	C	exonic	CDH22	.	nonsynonymous SNV	CDH22:NM_021248:exon8:c.A1394G:p.H465R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	3.305	M	0.67	T	-0.152	T	0.363	T	0.79	3.222	16.80	4.47	2.000	5.861	11.925	0.489	0.0518505245748	.	.	8.669e-06	0	0	0	0	0	0	6.363e-05	6.5e-06	1	154602	rs770412979	6.846e-07	1.368e-06	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	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	0.008	0.58626	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.053788	0.999993	0.58761	D	3.48	0.92553	M	0.67	0.52187	T	-6.68	0.92391	D	0.911	0.91276	-0.1516	0.78877	T	0.363	0.72384	T	10	0.8514197	0.84322	D	0.051851	0.64833	D	0.489	0.77656	0.582	0.70861	0.677105117572	0.67436	0.9482796163378782	0.94810	.	.	0.828103363514	0.86273	D	0.217231	0.57962	T	0.0792363	0.61952	D	-0.023329	0.68809	D	0.978212773799896	0.72217	D	0.960304	0.85063	D	0.7438123	0.80511	0.77048916	0.86449	0.7438123	0.80513	0.77048916	0.86450	-11.282	0.81182	D	.	.	0.739	0.74565	P	.;.	.;.	5.079783	0.84770	28.4	0.99603997810075495	0.74397	0.89992	0.50829	D	AEFDBHCI	0.847025	0.76389	D	0.646211707740998	0.76124	6.428906	0.501731178967801	0.68107	5.17464	0.999999999969719	0.74766	0.59774	0.34471	0	0.578056	0.33634	0	0.239995	0.05000	1	0.63947	0.58350	0	.	.	4.47	4.47	0.53770	5.822000	0.68949	7.771000	0.68472	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.925	0.52100	506	0.75555	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	935.98	38	chr20	46199452	.	T	C	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.849;DP=779;ExcessHet=0.0000;FS=2.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=1.37;SOR=1.056	GT:AD:DP:GQ:PL	0/1:42,38:80:99:950,0,1035	20	0	1	0
chr20	56533533	56533533	G	T	exonic	FAM209B	.	nonsynonymous SNV	FAM209B:NM_001013646:exon1:c.G192T:p.L64F,	.	.	427	1065	30	0	0	30	0.0138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.001	B	0.304	N	1.000	N	0.49	N	3.04	T	-0.968	T	0.011	T	0.149	-0.960	0.325	-3.7	-1.037	-1.684	4.010	0.002	0.00255680456359	.	.	9.06e-05	0.0004	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs781339391	1.575e-05	0.0003	1.907e-05	1.239e-05	0.0004	1.049e-05	8.76e-06	0.0002	0.0002	0.0004	2.238e-05	0	2.521e-05	1.877e-05	0	2.7e-06	4.973e-05	2.324e-05	0.0002	0.0006	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	0	0	0	0	0	0	0	0.0002	0.609	0.05485	T	0.769	0.04492	T	0.0	0.02946	B	0.001	0.04355	B	0.303922	0.03972	N	1.580090	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.07	0.04307	-0.9677	0.37673	T	0.011	0.04369	T	10	0.022401571	0.00558	T	0.002557	0.05150	T	0.002	0.00045	0.303	0.27164	0.0551355673512	0.04727	0.03222785619723955	0.03170	1.43542018666	0.85878	0.287637323141	0.08579	T	0.001182	0.00684	T	-0.359334	0.04168	T	-0.753935	0.03335	T	0.0112658102873799	0.00166	T	0.485551	0.14815	T	0.03416749	0.03783	0.041784458	0.04830	0.03416749	0.03782	0.041784458	0.04829	-4.127	0.25687	T	.	.	0.118	0.24088	B	.	.	-0.667708	0.01398	0.081	0.79492774416723921	0.12767	0.00124	0.00775	N	AEFDGBI	0.012398	0.00134	N	-1.69193262594221	0.00871	0.03768169	-1.76515577824009	0.00877	0.03921669	0.0023664782939477	0.09356	0.553676	0.25195	0	0.588015	0.36545	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	2.8	-3.7	0.04150	-2.074000	0.01463	-4.949000	0.01914	-0.426000	0.05215	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2385:0.3799:0.3817	4.010	0.09106	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	734.11	33	chr20	56533533	.	G	T	734.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.61;DP=2186;ExcessHet=0.1072;FS=12.290;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.51;MQRankSum=-1.755e+01;QD=0.97;ReadPosRankSum=-3.761e+00;SOR=2.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:326,32:358:99:0|1:56533531_T_C:305,0,13498:56533531	19	0	2	0
chr20	56533538	56533538	C	T	exonic	FAM209B	.	nonsynonymous SNV	FAM209B:NM_001013646:exon1:c.C197T:p.A66V,	.	.	427	1074	21	0	0	21	0.00968188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.669	N	1.000	N	-1.5	N	3.47	T	-0.924	T	0.004	T	0.092	-2.986	0.001	0.122	-0.100	0.502	5.063	0.020	0.00359669840548	.	.	6.589e-05	0.0002	0	0	0	8.99e-05	0	0	3.84e-05	1	26028	rs368304173	1.437e-05	0.0002	1.771e-05	1.101e-05	0.0004	9.24e-06	7.84e-06	0.0002	0.0002	0.0004	2.237e-05	0	0	0	0	2.699e-06	4.971e-05	2.322e-05	0.0002	0.0005	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.669238	0.10356	N	0.800389	1	0.08975	N	-1.965	0.00208	N	3.47	0.05188	T	2.3	0.00290	N	0.073	0.04668	-0.9242	0.44971	T	0.004	0.01400	T	10	0.023367971	0.00609	T	0.003597	0.08247	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.039349780777525274	0.03880	0.476556053232	0.46784	0.38573127985	0.23066	T	8.47E-4	0.00419	T	-0.393817	0.02541	T	-0.803468	0.01817	T	0.0241366401129241	0.01162	T	0.355964	0.08087	T	0.018656062	0.00388	0.035673358	0.02864	0.018656062	0.00388	0.035673358	0.02864	-3.53	0.16854	T	.	.	0.052	0.00229	B	.	.	-0.168141	0.03258	0.553	0.17422420602941649	0.00507	0.00022	0.00232	N	AEFDGBI	0.010295	0.00071	N	-1.71298199410479	0.00797	0.03442833	-1.65818619241602	0.01334	0.06020819	3.46912396237003E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	2.8	0.122	0.14005	0.564000	0.23265	2.147000	0.30884	-0.332000	0.05765	0.000000	0.06391	0.138000	0.23065	0.003000	0.05239	0.0:0.2961:0.0:0.7039	5.063	0.13906	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	473.11	33	chr20	56533538	.	C	T	473.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.73;DP=2168;ExcessHet=0.1072;FS=12.339;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.29;MQRankSum=-1.655e+01;QD=0.64;ReadPosRankSum=-3.327e+00;SOR=2.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,27:348:99:0|1:56533531_T_C:133,0,13290:56533531	19	0	2	0
chr20	59577585	59577585	A	T	exonic	PHACTR3	.	nonsynonymous SNV	PHACTR3:NM_001199505:exon1:c.A77T:p.D26V,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.464	P	0.07	B	.	.	1.000	N	0	N	1.84	T	-1.044	T	0.026	T	0.177	2.307	13.67	2.02	1.193	1.645	4.486	0.026	0.144744582646	.	.	0	.	.	.	.	.	.	.	0.0009221	24	26028	rs765998050	0.0024	0.0018	0.0024	0.0024	0.0027	0.0023	0.0023	0.0026	0.0026	0.0005	0.0009	0	0	9.768e-05	0.0004	0.0027	0.0018	0.0007	0.0018	0.0018	0.0018	0.0017	0.0048	0.0016	0.0015	0.0039	0.0036	0.0005	0	0.0048	0	0	0	0	0.0025	0.0029	0.0008	0.02	0.49613	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.84	0.24656	T	-1.07	0.27876	N	0.259	0.29313	-1.0444	0.16000	T	0.026	0.10954	T	9	0.056119114	0.06241	T	0.144745	0.82698	D	0.026	0.05648	.	.	0.138757226776	0.13463	.	.	.	.	.	.	.	.	.	.	-0.544357	0.00315	T	-0.560875	0.16295	T	0.127463275029064	0.15145	T	0.524448	0.17180	T	.	.	.	.	.	.	.	.	-3.214	0.12652	T	.	.	0.315	0.54138	B	.	.	2.341435	0.30010	18.30	0.98714893194240771	0.45113	0.06951	0.12977	N	AEFDBI	0.036067	0.04746	N	-0.669360132881514	0.16898	0.8650071	-0.690847767868104	0.17189	0.9128601	0.00514493218213338	0.10842	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	3.16	2.02	0.25641	1.238000	0.32310	2.050000	0.30341	0.550000	0.28109	0.045000	0.21207	0.986000	0.30841	0.159000	0.20615	0.8371:0.0:0.1629:0.0	4.486	0.11201	983	0.02875	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	125.99	15	chr20	59577585	.	A	T	125.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.319;DP=358;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0187;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=0.619;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,6:8:25:140,0,25	20	0	1	0
chr20	62813432	62813434	CGG	-	exonic	OGFR	.	nonframeshift deletion	OGFR:NM_007346:exon7:c.1817_1819del:p.A607del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0041	0	0	0	0	0	0	8.41e-05	13	154602	rs768791809	0.0019	0.0035	0.0019	0.0020	0.0259	0.0019	0.0018	0.0245	0.0240	0.0079	0.0077	0.0021	0.0259	0.0028	0.0031	0.0005	0.0024	0.0049	0.0021	0.0023	0.0022	0.0020	0.0078	0.0019	0.0018	0.0069	0.0065	0.0078	0	0.0012	0.0003	0.0024	0.0011	0	0.0002	0.0019	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	759.07	23	chr20	62813431	.	CCGG	C	759.07	.	AC=2;AF=0.048;AN=42;DP=479;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9836;MLEAC=2;MLEAF=0.048;MQ=57.51;QD=28.11;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,25:27:34:1|1:62813431_CCGG_C:787,34,0:62813431	20	1	0	0
chr20	62813433	62813433	G	0	exonic	OGFR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1104.12	25	chr20	62813433	.	G	A,*	1104.12	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=1.31;DP=480;ExcessHet=0.0090;FS=0.835;InbreedingCoeff=0.4177;MLEAC=5,2;MLEAF=0.132,0.053;MQ=52.89;MQRankSum=0.203;QD=11.27;ReadPosRankSum=1.31;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:2,0,25:27:34:1|1:62813431_CCGG_C:787,763,766,34,55,0:62813431	14	1	3	2
chr20	62813437	62813493	GGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG	-	exonic	OGFR	.	nonframeshift deletion	OGFR:NM_007346:exon7:c.1822_1878del:p.G608_P626del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0	0	0	0	0	0	.	.	.	.	0.0004	0.0018	0.0004	0.0004	0.0055	0.0004	0.0004	0.0049	0.0046	0.0055	0.0019	0.0002	0.0043	0.0004	0.0002	6.168e-05	0.0007	0.0004	0.0022	0.0019	0.0023	0.0020	0.0082	0.0019	0.0019	0.0073	0.0069	0.0082	0	0.0014	0	0.0028	0.0004	0	0.0002	0.0026	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	706.94	26	chr20	62813436	.	AGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG	A	706.94	.	AC=1;AF=0.024;AN=42;DP=508;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=58.27;QD=18.60;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,25:38:99:0|1:62813431_CCGG_C:721,0,248:62813431	20	0	1	0
chr20	63320093	63320093	G	A	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon24:c.G2971A:p.V991M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.909	D	0.029	N	0.851	N	2.275	M	4.22	T	-1.143	T	0.024	T	0.291	2.318	13.71	3.1	2.002	2.810	5.730	0.115	0.0181551795888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1427560452	2.853e-06	3.42e-06	0	5.779e-06	5.02e-05	6.7e-07	4.5e-07	1.672e-05	9.9e-06	0	0	0	0	0	0	0	0	5.02e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.006	0.74150	D	0.99	0.66517	D	0.813	0.64565	P	0.028855	0.25540	N	0.352365	0.851328	0.28492	N	2.86	0.83026	M	4.22	0.02640	T	-2.45	0.54702	N	0.425	0.49055	-1.1428	0.01257	T	0.024	0.10194	T	10	0.32790357	0.50067	T	0.018155	0.40130	T	0.115	0.32236	0.523	0.62668	0.27479166964	0.27093	0.1192751709653272	0.11854	0.247206810999	0.27258	0.760843336582	0.76054	T	0.054753	0.29813	T	-0.302112	0.08462	T	-0.476768	0.24791	T	0.637432634830475	0.37928	D	0.90391	0.77272	D	0.15588082	0.35207	0.20515351	0.44672	0.15588082	0.35206	0.20515351	0.44671	-6.145	0.47963	T	.	.	0.208	0.50609	B	.;.;.	.;.;.	3.398752	0.47096	22.4	0.99772396159058008	0.86003	0.74373	0.36382	D	AEFBI	0.231853	0.35502	N	0.362722138964206	0.59415	4.120667	0.245889363409442	0.52417	3.416562	0.00535715589833307	0.10912	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.07	3.1	0.34780	2.288000	0.43175	5.598000	0.49017	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.172000	0.21044	0.2175:0.0:0.7825:0.0	5.730	0.17301	.	.	Laminin G domain;.;Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	33	chr20	63320093	.	G	A	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.770e-01;DP=822;ExcessHet=0.0000;FS=2.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=1.11;SOR=0.494	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1034,0,927	20	0	1	0
chr20	63694833	63694833	C	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon31:c.C2533T:p.R845C	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	.	418	1102	2	0	0	2	0.000906618	.	.	1304827	not_provided|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3	MedGen:C3661900|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.938	D	0.000	D	1.000	N	1.7	L	0.65	T	-0.230	T	0.602	D	0.435	2.496	14.31	3.71	2.169	1.076	11.070	0.319	0.587614460235	.	.	1.695e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs762640318	3.219e-05	3.215e-05	2.998e-05	3.441e-05	0.0002	2.48e-05	2.223e-05	0.0001	9.451e-05	2.987e-05	2.237e-05	0	7.557e-05	0	0	2.249e-05	1.657e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.79402	D	0.998	0.77913	D	0.794	0.63802	P	0.000283	0.46274	D	0.178545	1	0.08975	N	1.7	0.43825	L	-1.73	0.83327	D	-3.48	0.67941	D	0.382	0.47301	-0.2297	0.76895	T	0.602	0.85825	D	10	0.49431804	0.61176	T	0.587614	0.96326	D	0.319	0.64112	0.534	0.64293	0.751768288679	0.74952	0.47267171261239194	0.47186	.	.	0.432527780533	0.29554	T	0.585023	0.86469	D	-0.101321	0.36206	T	-0.180663	0.56461	T	0.692274264388132	0.40354	D	0.784422	0.42944	T	0.34986833	0.57057	0.189104	0.42238	0.34986833	0.57057	0.189104	0.42237	-10.625	0.77562	D	.	.	0.115	0.32685	B	.;.;.;.	.;.;.;.	4.164576	0.62574	24.5	0.99814786909164643	0.89797	0.07526	0.13539	N	AEFDGBCI	0.129746	0.24803	N	-0.0349011971585491	0.40280	2.389353	-0.217371332704798	0.30912	1.744714	0.99999569759471	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	4.76	3.71	0.41733	0.764000	0.26197	3.971000	0.40825	0.596000	0.33519	0.000000	0.06391	0.406000	0.24735	0.152000	0.20376	0.2449:0.7551:0.0:0.0	11.070	0.47218	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2564.98	39	chr20	63694833	.	C	T	2564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=1071;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-2.470e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/1:87,97:184:99:2579,0,2078	20	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:138,117:255:99:3112,0,3622	6	6	9	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V,	.	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	0/1:129,91:220:99:2003,0,3477	6	6	9	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V,	.	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	0/1:92,88:180:99:2019,0,2522	6	6	9	0
chr21	33349218	33349218	C	T	exonic	IFNAR1	.	nonsynonymous SNV	IFNAR1:NM_000629:exon7:c.C916T:p.R306C	.	.	426	1093	3	0	0	3	0.00137049	.	.	1158974	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.005	M	0.86	T	-0.228	T	0.360	T	0.796	5.190	32	5.56	2.776	3.684	15.396	0.427	0.0663130140784	0.0002	.	0.0005	0	0.0003	0	0	0.0008	0	0.0002	0.000414	64	154602	rs201281365	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0009	0.0007	0	0.0004	0.0094	0	1.872e-05	0.0017	0.0002	0.0009	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0002	0.0002	2.415e-05	0	0.0004	0.0101	0	0	0	0.0003	0.0010	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000278	0.46590	D	0.095839	0.999988	0.54805	D	2.85	0.82803	M	0.86	0.46777	T	-7.77	0.95842	D	0.773	0.77039	-0.2281	0.76937	T	0.360	0.72208	T	10	0.09970924	0.18111	T	0.066313	0.69838	D	0.427	0.73445	.	.	0.745173353745	0.74287	0.8009708055997322	0.80051	0.423969410198	0.42838	0.438875257969	0.30423	T	0.674546	0.90377	D	-0.0933268	0.37527	T	-0.0687047	0.65719	T	0.241760488814591	0.22500	T	0.890711	0.62461	D	0.83576214	0.86306	0.5373998	0.73267	0.83576214	0.86307	0.5373998	0.73267	-10.108	0.74556	D	.	.	0.384	0.58646	A	.	.	5.088733	0.84970	28.5	0.99937260660035798	0.99661	0.92529	0.55925	D	AEFBI	0.414017	0.48345	N	0.762580879970293	0.83722	8.092	0.680493987392373	0.80900	7.402725	0.999994260036501	0.74766	0.75658	0.98901	0	0.743671	0.97443	0	0.65145	0.50148	0	0.656636	0.63459	0	.	.	5.56	5.56	0.83678	3.986000	0.56647	5.794000	0.49890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.306000	0.24642	0.0:1.0:0.0:0.0	15.396	0.74510	923	0.18507	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1511.98	33	chr21	33349218	.	C	T	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.187;SOR=0.759	GT:AD:DP:GQ:PL	0/1:46,59:105:99:1526,0,948	20	0	1	0
chr21	34449540	34449540	C	T	exonic	KCNE1	.	nonsynonymous SNV	KCNE1:NM_001127670:exon2:c.G95A:p.R32H	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	136431	Jervell_and_Lange-Nielsen_syndrome_2|Congenital_long_QT_syndrome|not_provided|Long_QT_syndrome|Cardiovascular_phenotype|Long_QT_syndrome_5|not_specified	MONDO:MONDO:0012871,MedGen:C2676723,OMIM:612347,Orphanet:768,Orphanet:90647|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MONDO:MONDO:0013372,MedGen:C1867904,OMIM:613695,Orphanet:101016,Orphanet:768|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.01	B	0.01	B	0.035	N	0.942	N	2.3	M	-3.59	D	0.173	D	0.754	D	0.474	4.635	25.4	2.91	1.161	1.053	8.019	0.386	0.146056677478	.	.	4.958e-05	0	0	0	0	6.019e-05	0	0.0001	3.88e-05	6	154602	rs17857111	5.615e-05	5.554e-05	5.354e-05	5.878e-05	0.0009	4.348e-05	3.844e-05	0.0002	0.0001	0	0	0.0001	0	0	0.0009	4.453e-05	5.719e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.534	0.09965	T	0.01	0.15535	B	0.01	0.14941	B	0.034556	0.24756	N	0.335667	0.941872	0.26767	N	2.56	0.74772	M	-3.59	0.94975	D	-0.47	0.15178	N	0.064	0.16447	0.173	0.85449	D	0.754	0.91623	D	10	0.14678806	0.27825	T	0.146057	0.82821	D	0.386	0.70276	0.362	0.36711	0.92606280091	0.92531	0.5202919222444429	0.51952	0.0997905954404	0.11272	0.31505382061	0.12672	T	0.638275	0.88875	D	-0.205575	0.20006	T	-0.296402	0.45103	T	0.101660220118015	0.12539	T	0.652935	0.26315	T	0.038336053	0.05089	0.041685455	0.04796	0.033013634	0.03438	0.039334483	0.04003	-3.881	0.22018	T	0.16025668280627664	0.19539	0.095	0.14842	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.618923	0.34026	19.51	0.9993260304993582	0.99439	0.59812	0.31019	D	AEFBI	0.210613	0.33648	N	-0.226006622171145	0.32069	1.804737	-0.160374169687292	0.33011	1.883902	0.0231472088241502	0.13485	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.86	2.91	0.32903	1.120000	0.30885	0.500000	0.18986	0.549000	0.26987	0.411000	0.26257	0.157000	0.23230	0.695000	0.33988	0.2219:0.6916:0.0:0.0864	8.019	0.29558	899	0.25060	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	5005.22	33	chr21	34449540	.	C	T	5005.22	.	AC=2;AF=0.067;AN=30;DP=887;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6912;MLEAC=3;MLEAF=0.100;MQ=42.67;QD=31.48;SOR=1.639	GT:AD:DP:GQ:PL	1/1:0,159:159:99:5028,477,0	14	1	0	6
chr21	42477368	42477368	A	C	exonic	RSPH1	.	nonsynonymous SNV	RSPH1:NM_001286506:exon6:c.T536G:p.L179W	Ciliary dyskinesia, primary, 24, Autosomal recessive	.	419	1072	30	1	0	32	0.0147059	.	.	243626	Primary_ciliary_dyskinesia_24|not_provided|Primary_ciliary_dyskinesia|not_specified	MONDO:MONDO:0014202,MedGen:C3809634,OMIM:615481,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.981	D	0.069	N	0.994	N	2.05	M	-0.43	T	-0.580	T	0.360	T	0.354	1.687	11.60	4.3	1.738	4.809	7.699	0.337	.	0.0075	0.00259585	0.0073	0.0017	0.0037	0.0001	0.0020	0.0107	0.0044	0.0054	0.0071603	1107	154602	rs138007679	0.0087	0.0087	0.0087	0.0088	0.0199	0.0086	0.0086	0.0170	0.0159	0.0011	0.0044	0.0179	2.519e-05	0.0018	0.0199	0.0097	0.0100	0.0053	0.0070	0.0070	0.0074	0.0066	0.0108	0.0067	0.0065	0.0101	0.0098	0.0017	0.0100	0.0092	0.0201	0	0.0007	0.0310	0.0108	0.0083	0.0030	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.069443	0.21604	N	0.437144	0.995387	0.23650	N	2.22	0.62911	M	-0.43	0.71662	T	-4.18	0.76094	D	0.69	0.69562	-0.5802	0.65609	T	0.360	0.72201	T	10	0.009697765	0.00218	T	.	.	.	0.337	0.65913	.	.	0.651676189787	0.64878	0.7483150795058281	0.74777	0.640128570775	0.57655	0.587133646011	0.51090	T	0.518742	0.83130	D	-0.320675	0.06842	T	-0.223016	0.52446	T	0.0454924431433719	0.04692	T	0.805019	0.45286	T	0.17939371	0.39008	0.2904774	0.55070	0.19862854	0.41773	0.2573554	0.51450	-7.512	0.57912	D	.	.	0.435	0.64265	A	.;.	.;.	3.936228	0.57567	23.9	0.95818254659302704	0.27904	0.70193	0.34490	D	AEFDGBCI	0.477952	0.52072	N	0.412952004087937	0.62133	4.424404	0.297161445250001	0.55373	3.700439	0.999999681311236	0.74766	0.554377	0.28877	0	0.296712	0.05252	1	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.3	4.3	0.50540	5.217000	0.65084	10.629000	0.83502	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.008000	0.08271	0.9018:0.0:0.0982:0.0	7.699	0.27779	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	1	0	0	0	0	1	0	0.02381	873.98	33	chr21	42477368	.	A	C	873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=813;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.20;ReadPosRankSum=1.22;SOR=0.879	GT:AD:DP:GQ:PL	0/1:60,35:95:99:888,0,1676	20	0	1	0
chr21	44551199	44551199	G	A	exonic	KRTAP10-2	.	nonsynonymous SNV	KRTAP10-2:NM_198693:exon1:c.C260T:p.P87L,	.	.	390	1058	74	0	0	74	0.03379	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.496	P	0.028	B	.	.	1.000	D	2.7	M	4.79	T	-1.052	T	0.009	T	0.191	2.297	13.64	3.78	1.655	0.402	7.341	0.144	.	.	.	0.0063	0.0373	0.0030	0.0004	0.0020	0.0037	0.0069	0.0070	.	.	.	rs782662252	0.0001	0.0025	0.0001	0.0002	0.0039	0.0001	0.0001	0.0026	0.0022	0.0011	6.75e-05	0.0002	0	0.0003	0.0039	6.355e-05	0.0003	0.0002	0.0002	0.0005	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	6.534e-05	0	0	0	0	7.359e-05	0.0005	0.0004	0.048	0.40068	D	0.054	0.47097	T	0.496	0.37079	P	0.028	0.21332	B	.	.	.	.	0.999997	0.58761	D	2.955	0.85029	M	4.79	0.01539	T	-8.16	0.96764	D	0.142	0.14196	-1.0517	0.13926	T	0.009	0.03140	T	9	0.0026210248	0.00040	T	.	.	.	0.144	0.38394	.	.	0.115124310173	0.11017	0.058596013291031285	0.05800	0.0569786958454	0.06297	0.231011360884	0.02044	T	0.098362	0.40211	T	-0.217652	0.18314	T	-0.550418	0.17286	T	0.0714130140069768	0.08848	T	0.135986	0.01074	T	0.16945645	0.37463	0.19798742	0.43608	0.16945645	0.37462	0.19798742	0.43607	-8.881	0.66927	D	.	.	0.091	0.12985	B	.	.	1.985553	0.25224	16.69	0.98047557513349581	0.37843	0.09523	0.15260	N	AEFBHCI	0.025694	0.01804	N	-0.166923876976934	0.34517	1.97114	-0.200978984489683	0.31502	1.783383	0.999596117638775	0.40745	0.615755	0.39536	0	0.59043	0.45803	0	0.618376	0.41669	0	0.542086	0.14980	0	.	.	3.78	3.78	0.42629	1.788000	0.38346	0.844000	0.22071	-0.112000	0.15009	0.054000	0.21560	0.001000	0.17328	0.845000	0.39915	0.1246:0.0:0.8754:0.0	7.341	0.25809	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	362.98	182	chr21	44551199	.	G	A	362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.444e+00;DP=3305;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.68;MQRankSum=-9.047e+00;QD=1.46;ReadPosRankSum=4.80;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,25:249:99:0|1:44551199_G_A:377,0,8496:44551199	20	0	1	0
chr21	44558145	44558145	G	T	exonic	KRTAP10-3	.	nonsynonymous SNV	KRTAP10-3:NM_198696:exon1:c.C571A:p.P191T,	.	.	391	1124	6	1	0	8	0.0035461	.	.	2331906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.535	P	0.115	B	.	.	1.000	N	1.63	L	5.89	T	-0.919	T	0.003	T	0.331	0.844	8.410	2.75	1.792	1.543	10.514	0.099	0.00325963267996	.	0.000199681	0.0006	0.0003	8.706e-05	0	0	0.0005	0.0022	0.0019	0.0004657	72	154602	rs201268694	0.0003	0.0003	0.0003	0.0004	0.0080	0.0003	0.0003	0.0062	0.0055	0.0002	8.968e-05	0.0008	2.521e-05	0	0.0080	0.0002	0.0005	0.0019	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0001	0.0006	0	0	0	0.0002	0.0009	0.0015	0.025	0.47320	D	0.076	0.42614	T	0.535	0.37805	P	0.115	0.31843	B	.	.	.	.	1	0.81001	D	2.085	0.57729	M	5.89	0.00629	T	-5.66	0.87063	D	0.272	0.30800	-0.9188	0.45716	T	0.003	0.01059	T	9	0.018901676	0.00416	T	0.00326	0.07207	T	0.099	0.28413	.	.	0.232513804876	0.22884	0.08514950096663022	0.08448	0.0273854286493	0.02796	0.242790952325	0.03047	T	0.132764	0.46305	T	-0.504057	0.00543	T	-0.503604	0.21973	T	0.0376645570602941	0.03273	T	0.476852	0.14330	T	0.20139806	0.42150	0.27671713	0.53619	0.20139806	0.42149	0.27671713	0.53618	-9.72	0.72218	D	.	.	0.086	0.10787	B	.	.	2.217758	0.28299	17.75	0.98233316429246365	0.39414	0.32514	0.24604	N	AEFBI	0.059726	0.11301	N	-0.254224545440916	0.30935	1.729708	-0.288808693841663	0.28466	1.58741	0.796207381363339	0.24104	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	3.74	2.75	0.31439	1.040000	0.29888	0.284000	0.16799	0.672000	0.70159	0.730000	0.28923	0.000000	0.08366	0.089000	0.17737	0.0:0.1993:0.8007:0.0	10.514	0.44068	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4291.11	45	chr21	44558145	.	G	T	4291.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.650e-01;DP=989;ExcessHet=0.1072;FS=1.452;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=0.151;SOR=0.809	GT:AD:DP:GQ:PL	0/1:53,77:130:99:2202,0,1296	19	0	2	0
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,50,0:131:99:0|1:44558605_G_A:1850,0,3248,2094,3399,5493:44558605	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,50,0:130:99:0|1:44558605_G_A:1838,0,3168,2079,3319,5398:44558605	0	17	3	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	1/1:0,263,0:263:99:11142,794,0,11303,862,11917	3	1	0	1
chr22	15690401	15690401	C	G	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon1:c.C324G:p.C108W,	.	.	457	1026	36	2	1	41	0.0191205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202187764	0.0033	0.0074	0.0029	0.0037	0.0183	0.0032	0.0032	0.0171	0.0167	0.0011	0.0050	0.0038	0.0183	0.0040	0.0023	0.0019	0.0042	0.0138	0.0013	0.0045	0.0010	0.0016	0.0057	0.0011	0.0010	0.0036	0.0030	0.0004	0	0.0014	0.0008	0.0050	0.0046	0	0.0008	0.0013	0.0057	0.135	0.26192	T	0.081	0.41742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2	0.37405	T	-1.44	0.35399	N	0.357	0.39861	.	.	.	.	.	.	.	0.045320213	0.03589	T	.	.	.	.	.	.	.	.	.	0.7988924948495643	0.79842	.	.	.	.	.	0.012318	0.10847	T	.	.	.	.	.	.	.	.	.	0.491551	0.15120	T	.	.	.	.	.	.	.	.	-2.632	0.06750	T	.	.	0.132	0.28377	B	.	.	0.989631	0.13675	10.21	.	.	.	.	.	.	0.081464	0.16484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.401000	0.07293	.	.	-1.191000	0.01374	0.016000	0.19238	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	410.2	115	chr22	15690401	.	C	G	410.2	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.08;DP=1002;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8100;MLEAC=1;MLEAF=0.024;MQ=40.39;MQRankSum=-8.200e-01;QD=27.35;ReadPosRankSum=-1.511e+00;SOR=0.527	GT:AD:DP:GQ:PL	1/1:1,14:15:17:437,17,0	20	1	0	0
chr22	18608541	18608541	G	A	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.C2894T:p.T965M,	.	.	471	1050	1	0	0	1	0.000475964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.006	B	0.003	B	0.890	N	1.000	N	1.625	L	2.05	T	-0.981	T	0.036	T	0.06	0.403	6.190	-5.95	-1.563	-0.811	2.800	0.014	0.0100661654566	.	.	0.0006	0.0016	0	0	0	0.0006	0	0.0004	3.84e-05	1	26028	rs772399635	0.0001	0.0002	0.0001	0.0001	0.0011	0.0001	9.853e-05	0.0009	0.0008	0.0011	0.0002	0	2.52e-05	1.873e-05	0	7.558e-05	0.0002	0.0003	0.0004	0.0005	0.0004	0.0003	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	0.0007	0	0.0004	0	0	0.0001	0	0	.	.	.	0.169	0.30534	T	.	.	.	.	.	.	0.890383	0.07291	N	1.053410	1	0.08975	N	1.435	0.35949	L	.	.	.	.	.	.	0.051	0.02272	-0.9805	0.34886	T	0.036	0.15509	T	10	0.015061766	0.00316	T	0.010066	0.26169	T	.	.	.	.	0.0297737177859	0.01360	0.5129486007430906	0.51216	.	.	0.236229866743	0.02461	T	0.021709	0.16859	T	-0.621107	0.00108	T	-0.721301	0.04733	T	0.00284151813067264	0.00030	T	0.362864	0.08399	T	0.016360903	0.00193	0.025627825	0.00614	0.016360903	0.00193	0.025627825	0.00614	-4.421	0.29840	T	.	.	0.075	0.05711	B	.	.	-0.144641	0.03384	0.607	0.53354274079819797	0.04923	0.00883	0.03481	N	AEFBI	0.042154	0.06502	N	-1.79170622409344	0.00565	0.02436591	-1.93027745447837	0.00426	0.01884654	9.27098393524536E-5	0.04910	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.14	-5.95	0.02054	-0.779000	0.04764	-0.568000	0.08441	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.519000	0.29452	0.267:0.1213:0.4888:0.1229	2.800	0.05078	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	79.98	121	chr22	18608541	.	G	A	79.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=1315;ExcessHet=0.0000;FS=0.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.56;MQRankSum=-2.814e+00;QD=0.40;ReadPosRankSum=1.12;SOR=0.804	GT:AD:DP:GQ:PL	0/1:179,23:202:94:94,0,4458	20	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	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	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,172:172:99:.:.:5040,516,0	3	11	7	0
chr22	19782924	19782924	G	C	exonic	TBX1	.	nonsynonymous SNV	TBX1:NM_005992:exon9:c.G1021C:p.E341Q,	Conotruncal anomaly face syndrome;DiGeorge syndrome, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Velocardiofacial syndrome, Autosomal dominant	.	0	1518	3	1	0	5	0.0016442	.	.	3219004	TBX1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.0	B	.	.	1.000	N	0.345	N	-2.18	D	-0.855	T	0.311	T	0.038	-0.412	2.076	-0.715	-0.127	-0.276	2.746	0.138	0.0128030966149	.	0.000998403	0.0009	0	8.637e-05	0	0	1.499e-05	0	0.0067	0.0007697	119	154602	rs537289976	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0047	0.0045	0	0	0	0	0	0.0005	4.5e-06	0.0004	0.0050	9.848e-05	9.843e-05	3.854e-05	0.0002	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.507	0.07570	T	0.555	0.09267	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.18	0.86722	D	-0.11	0.08653	N	0.157	0.16308	-0.8547	0.51641	T	0.311	0.68157	T	9	0.0047153533	0.00099	T	0.012803	0.31686	T	0.138	0.37187	0.102	0.01589	0.686067564298	0.68338	.	.	.	.	.	.	.	.	.	.	-0.503795	0.00544	T	-0.493831	0.22990	T	0.0142595221226607	0.00283	T	0.367463	0.08589	T	.	.	.	.	.	.	.	.	-3.355	0.14457	T	.	.	0.077	0.06341	B	.	.	0.339230	0.07128	3.707	0.78389642339801169	0.12280	0.00742	0.03097	N	AEFDBI	0.031967	0.03522	N	-1.21485666918864	0.04783	0.2166413	-1.28259414915279	0.04665	0.2206016	0.990109690967433	0.32040	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	1.57	-0.715	0.10650	-0.272000	0.08591	0.141000	0.15172	0.596000	0.33519	0.015000	0.19116	0.000000	0.08366	0.329000	0.25179	0.208:0.3091:0.483:0.0	2.746	0.04943	893	0.26510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1706.98	34	chr22	19782924	.	G	C	1706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.050;DP=836;ExcessHet=0.0000;FS=1.359;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.313;SOR=0.543	GT:AD:DP:GQ:PL	0/1:63,74:137:99:1721,0,1386	20	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	3.56	H	2.16	T	-0.756	T	0.158	T	0.595	3.240	16.86	2.4	1.373	5.728	8.346	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	0.02381	143.98	36	chr22	21221866	.	C	T	143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.990e-01;DP=838;ExcessHet=0.0000;FS=1.092;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.69;MQRankSum=0.173;QD=1.56;ReadPosRankSum=0.825;SOR=0.437	GT:AD:DP:GQ:PL	0/1:76,16:92:99:158,0,2005	20	0	1	0
chr22	21635160	21635160	C	T	exonic	CCDC116	.	nonsynonymous SNV	CCDC116:NM_001331066:exon4:c.C1097T:p.P366L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.003	B	0.017	N	1.000	N	-0.145	N	2.83	T	-0.974	T	0.010	T	0.082	-0.295	2.593	-7.14	-1.434	-0.493	5.161	0.010	0.00147953083166	.	0.000199681	3.348e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs553299459	2.07e-05	2.121e-05	1.374e-05	2.771e-05	0.0003	1.468e-05	1.274e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0	0	1.658e-05	0.0003	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.017432	0.01465	N	2.345310	1	0.08975	N	0.13	0.08652	N	2.83	0.10771	T	0.31	0.04022	N	0.027	0.02658	-0.9739	0.36366	T	0.010	0.03856	T	10	0.016755134	0.00354	T	0.00148	0.02267	T	0.010	0.01040	0.172	0.07774	0.0611884634855	0.05136	0.043932312831742495	0.04337	0.191270352614	0.21451	0.215560048819	0.01069	T	5.62E-4	0.00225	T	-0.602792	0.00140	T	-0.803321	0.01821	T	0.019605472911615	0.00663	T	0.439156	0.12095	T	0.024197774	0.01228	0.035871286	0.02922	0.024197774	0.01228	0.035871286	0.02921	-4.051	0.24564	T	.	.	0.082	0.13644	B	.;.	.;.	0.123578	0.05206	1.717	0.67357974443583246	0.08331	0.00269	0.01464	N	AEFBI	0.023803	0.01378	N	-1.7920109743045	0.00565	0.0243343	-1.85930131866678	0.00587	0.02608803	0.999605034635613	0.40866	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.57	-7.14	0.01374	-0.665000	0.05386	.	.	-0.393000	0.05333	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1356:0.5657:0.1367:0.162	5.161	0.14390	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2675.98	37	chr22	21635160	.	C	T	2675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.315;DP=1204;ExcessHet=0.0000;FS=6.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=1.09;SOR=0.395	GT:AD:DP:GQ:PL	0/1:102,106:208:99:2690,0,2635	20	0	1	0
chr22	21867418	21867418	-	CCG	exonic	MAPK1	.	nonframeshift insertion	MAPK1:NM_002745:exon1:c.22_23insCGG:p.A7_G8insA	.	.	10	1488	21	0	3	24	0.00700701	.	.	1164574	MAPK1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	0	0.0031	0	0.0147	0.0001153	3	26028	rs770506771	0.0044	0.0040	0.0042	0.0045	0.0455	0.0042	0.0042	0.0406	0.0388	0.0017	0.0455	0.0024	0.0007	0.0062	0.0063	0.0035	0.0055	0.0326	0.0084	0.0086	0.0070	0.0099	0.0416	0.0081	0.0079	0.0369	0.0351	0.0032	0.0220	0.0365	0.0035	0.0031	0.0082	0.0069	0.0037	0.0024	0.0416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1055.94	35	chr22	21867418	.	C	CCCG	1055.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.00;ReadPosRankSum=1.44;SOR=0.745	GT:AD:DP:GQ:PL	0/1:21,27:48:99:1070,0,801	20	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	25	583	905	9	0	923	0.441838	.	.	1196252	not_provided|Chronic_myelogenous_leukemia,_BCR-ABL1_positive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	9572.82	36	chr22	23311788	.	T	TCCGG	9572.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.511;DP=1943;ExcessHet=20.9642;FS=19.140;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=55.14;MQRankSum=-7.359e+00;QD=5.78;ReadPosRankSum=0.550;SOR=1.916	GT:AD:DP:GQ:PL	0/1:79,17:96:99:237,0,3166	5	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	59	994	464	5	0	474	0.192526	.	.	247185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.986	D	0.771	P	0.000	D	1.000	D	1.13	L	2.66	T	-1.146	T	0.053	T	0.225	5.285	33	4.49	2.258	9.533	16.632	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1509.16	36	chr22	23311830	.	G	A	1509.16	.	AC=9;AF=0.214;AN=42;BaseQRankSum=2.22;DP=1620;ExcessHet=4.7172;FS=18.276;InbreedingCoeff=-0.2741;MLEAC=9;MLEAF=0.214;MQ=57.72;MQRankSum=-8.970e+00;QD=1.86;ReadPosRankSum=-2.564e+00;SOR=2.383	GT:AD:DP:GQ:PL	0/1:74,11:85:99:171,0,2024	12	0	9	0
chr22	24850296	24850296	G	T	exonic	SGSM1	.	nonsynonymous SNV	SGSM1:NM_001039948:exon5:c.G319T:p.G107C	.	.	429	1092	1	0	0	1	0.000457666	.	.	3321666	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.924	D	0.001	D	0.998	D	1.175	L	3.19	T	-1.133	T	0.040	T	0.581	3.042	16.15	4.83	2.406	4.924	12.822	0.126	0.0111671898549	.	.	0.0004	0	0.0015	0	0	0.0001	0	0.0015	0.0001423	22	154602	rs753571655	7.241e-05	7.182e-05	3.015e-05	0.0001	0.0010	6.096e-05	5.64e-05	0.0008	0.0007	0	0	0	2.542e-05	3.782e-05	0.0003	1.265e-05	6.661e-05	0.0010	3.284e-05	3.281e-05	1.285e-05	5.374e-05	0.0004	1.261e-05	7.98e-06	7.299e-05	3.032e-05	2.408e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	0.096	0.31088	T	0.021	0.58089	D	0.995	0.67487	D	0.875	0.62107	P	0.000714	0.42254	D	0.277928	0.997711	0.44125	D	1.445	0.36358	L	3.18	0.07478	T	-3.66	0.70067	D	0.475	0.54932	-1.1333	0.01631	T	0.040	0.17020	T	10	0.07475853	0.11469	T	0.011167	0.28518	T	0.126	0.34673	.	.	0.134007934775	0.12933	0.25874791881798914	0.25788	0.827829513306	0.67493	0.614989459515	0.55021	T	0.156698	0.49898	T	-0.392001	0.02611	T	-0.38141	0.35558	T	0.398358434438705	0.28880	T	0.920308	0.71149	D	0.41289356	0.61616	0.19267693	0.42795	0.41289356	0.61616	0.19267693	0.42794	-10.131	0.74692	D	.	.	0.095	0.15025	B	.;.;.	.;.;.	4.944325	0.81627	27.6	0.99500636450357283	0.68031	0.93046	0.57190	D	AEFDGBHCI	0.740381	0.68465	D	0.520036284163764	0.68275	5.194874	0.532539922158305	0.70194	5.469205	0.999829409451298	0.43622	0.65861	0.49226	0	0.596394	0.48810	0	0.596874	0.31795	0	0.345915	0.05782	2	.	.	4.83	4.83	0.61880	5.002000	0.63701	9.622000	0.81108	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0823:0.0:0.9177:0.0	12.822	0.57083	593	0.68665	RUN domain|RUN domain;.;RUN domain|RUN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1468.98	36	chr22	24850296	.	G	T	1468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.858;DP=838;ExcessHet=0.0000;FS=4.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-1.207e+00;SOR=1.112	GT:AD:DP:GQ:PL	0/1:66,57:123:99:1483,0,1598	20	0	1	0
chr22	29049997	29049997	C	T	exonic	ZNRF3	.	nonsynonymous SNV	ZNRF3:NM_001206998:exon8:c.C1816T:p.R606C	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.071	B	0.007	B	0.000	N	0.996	D	1.795	L	-1.31	T	-0.698	T	0.327	T	0.207	0.036	4.202	1.02	0.196	1.083	4.408	0.159	.	.	0.00219649	0.0015	0	0	0	0	4.816e-05	0.0012	0.0108	0.0012548	194	154602	rs557827738	0.0007	0.0007	0.0004	0.0011	0.0115	0.0007	0.0007	0.0109	0.0107	2.988e-05	4.481e-05	0	0	0	0.0003	2.069e-05	0.0006	0.0115	0.0005	0.0005	0.0002	0.0007	0.0149	0.0004	0.0004	0.0121	0.0111	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0149	0.042	0.41637	D	0.076	0.42614	T	0.071	0.23930	B	0.007	0.12992	B	0.000259	0.46924	N	0.219434	0.995955	0.42940	D	1.61	0.41143	L	-1.31	0.79666	T	-2.23	0.50012	N	0.275	0.31140	-0.6983	0.60519	T	0.327	0.69538	T	10	0.0046073794	0.00096	T	.	.	.	0.159	0.41286	0.174	0.08014	0.143184338766	0.13958	0.5199401549401121	0.51917	0.606777653932	0.55513	0.583125829697	0.50526	T	0.083231	0.37008	T	-0.393003	0.02572	T	-0.329336	0.41542	T	0.0234360977837035	0.01075	T	0.857514	0.54691	D	0.14614609	0.33469	0.07218629	0.15545	0.14614609	0.33469	0.07218629	0.15544	-7.153	0.55143	T	.	.	0.105	0.22500	B	.;.;.	.;.;.	3.034215	0.40654	21.2	0.90515074829797204	0.19771	0.84043	0.43129	D	AEFDBHCI	0.438089	0.49762	N	-0.753063418149947	0.14550	0.725736	-0.77754244149154	0.15046	0.789353	0.99997691863223	0.50053	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.33	1.02	0.19102	1.121000	0.30897	2.192000	0.31216	0.596000	0.33519	0.774000	0.29403	0.010000	0.20010	0.407000	0.26939	0.1556:0.5874:0.0:0.257	4.408	0.10847	522	0.74218	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1463.98	38	chr22	29049997	.	C	T	1463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.080e-01;DP=855;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-1.300e-02;SOR=0.885	GT:AD:DP:GQ:PL	0/1:72,65:137:99:1478,0,1693	20	0	1	0
chr22	33316116	33316116	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001378631:exon6:c.G661A:p.V221I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	.	1	1515	5	1	0	7	0.00230491	.	.	101064	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1|Muscular_dystrophy-dystroglycanopathy_type_B6|not_specified|LARGE1-related_disorder|not_provided	MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899|MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.544	P	0.322	B	0.000	D	1.000	D	1.875	L	1.76	T	-0.882	T	0.172	T	0.249	3.331	17.21	4.25	1.225	5.603	13.792	0.091	0.0140547202504	0.0018	0.000199681	0.0009	0.0007	0.0003	0	0.0003	0.0014	0	0.0002	0.0008667	134	154602	rs150861748	0.0017	0.0017	0.0018	0.0016	0.0021	0.0016	0.0016	0.0020	0.0020	0.0004	0.0004	0	0	0.0004	0.0005	0.0021	0.0018	0.0002	0.0012	0.0012	0.0012	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0007	0	0	0.0006	0	0.0021	0	0.0002	0.171	0.22746	T	0.181	0.30339	T	0.544	0.37968	P	0.22	0.37792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.78	0.50721	T	-0.72	0.20358	N	0.467	0.50418	-0.8825	0.49561	T	0.172	0.51357	T	10	0.026062876	0.00783	T	0.014055	0.33919	T	0.091	0.26358	.	.	0.0934897674506	0.08844	0.37553958011509997	0.37467	0.476979885373	0.46820	0.68186455965	0.64537	T	0.337792	0.70714	T	-0.43068	0.01468	T	-0.404649	0.32845	T	0.023783041164279	0.01118	T	0.886311	0.67517	D	0.121630296	0.28597	0.104113966	0.24999	0.121630296	0.28597	0.104113966	0.24998	-5.569	0.45850	T	0.28357161420575144	0.37925	0.112	0.22061	B	.;.;.;.;.;.	.;.;.;.;.;.	3.001359	0.40103	21.1	0.99754828742882973	0.84537	0.94544	0.61510	D	AEFDGBI	0.567541	0.57309	D	0.0827991372445034	0.45662	2.818948	0.146428313028648	0.46952	2.93299	0.999963893892965	0.48965	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.564101	0.26826	0	.	.	5.26	4.25	0.49658	5.679000	0.67824	4.869000	0.45548	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.9263:0.0:0.0737	13.792	0.62637	858	0.34001	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1264.98	37	chr22	33316116	.	C	T	1264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.311;DP=822;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=1.98;SOR=0.819	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1279,0,1398	20	0	1	0
chr22	35551617	35551617	A	T	exonic	RASD2	.	nonsynonymous SNV	RASD2:NM_001366725:exon3:c.A386T:p.E129V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.091	B	0.065	B	0.000	D	1.000	D	0.495	N	-0.61	T	-0.766	T	0.215	T	0.668	4.844	27.6	5.62	2.142	9.224	15.806	0.410	0.043483305698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.183	0.29153	T	0.091	0.25247	B	0.065	0.27321	B	0.000000	0.84330	D	0.043563	0.999998	0.58761	D	0.6	0.15550	N	-0.61	0.71779	T	-2.27	0.50666	N	0.694	0.69913	-0.7665	0.57049	T	0.215	0.57613	T	10	0.63801414	0.68894	D	0.043483	0.61007	D	0.410	0.72176	0.545	0.65873	0.752930276546	0.75069	0.7675069577463074	0.76699	1.94467123622	0.93298	0.561038970947	0.47415	T	0.393607	0.75297	T	0.10904	0.65252	D	-0.0811476	0.64819	T	0.934168577194214	0.60144	D	0.947205	0.79675	D	0.24674438	0.47646	0.29306716	0.55334	0.24674438	0.47646	0.29306716	0.55334	-11.007	0.79696	D	.	.	0.188	0.40554	B	.	.	3.817760	0.55106	23.6	0.99376022959391308	0.61671	0.99414	0.95724	D	AEFDBI	0.889010	0.82269	D	0.0988564171787007	0.46409	2.881698	0.309969253130085	0.56123	3.775476	0.999999999974497	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.62	5.62	0.85714	9.211000	0.94222	11.309000	0.92418	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.806	0.78287	870	0.31527	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1393.98	41	chr22	35551617	.	A	T	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.440e+00;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=1.90;SOR=0.633	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1408,0,1526	20	0	1	0
chr22	36227655	36227655	C	A	exonic	APOL2	.	stopgain	APOL2:NM_030882:exon5:c.G763T:p.E255X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	.	.	.	.	0.638	N	1.000	D	.	.	.	.	.	.	.	.	.	2.432	14.09	0.094	-0.146	-0.152	0.853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638208	0.05852	N	1.186950	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244707	0.78104	D	0.113728	0.77818	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	4.700427	0.75409	26.3	0.96897571075513667	0.31523	0.01732	0.05474	N	AEFDBHI	0.031705	0.03443	N	-0.314676139406015	0.28589	1.578193	-0.688775489018297	0.17240	0.9158465	0.998919003679291	0.37962	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.82	0.094	0.13789	-0.406000	0.07249	-20.000000	0.00162	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.1179:0.202:0.4845	0.853	0.01101	615	0.66512	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	784.98	39	chr22	36227655	.	C	A	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.354e+00;DP=1280;ExcessHet=0.0000;FS=228.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.09;ReadPosRankSum=3.20;SOR=8.155	GT:AD:DP:GQ:PL	0/1:196,58:254:99:799,0,5472	20	0	1	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C,	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.839	P	0.211	B	0.000	D	1.000	D	2.625	M	-2.36	D	0.426	D	0.660	D	0.853	4.564	24.7	5.1	2.538	9.869	18.547	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1924.07	73	chr22	36316560	.	G	C	1924.07	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.731e+00;DP=1544;ExcessHet=1.7912;FS=261.121;InbreedingCoeff=-0.1672;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.93;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,22:95:99:0|1:36316559_G_C:271,0,2734:36316559	15	0	6	0
chr22	37019870	37019870	C	G	exonic	MPST	.	nonsynonymous SNV	MPST:NM_001369905:exon1:c.C34G:p.R12G	.	.	405	1116	1	0	0	1	0.000447828	0.0013	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	.	.	.	.	.	.	0.804	N	0	N	1.42	T	-1.004	T	0.037	T	0.124	0.584	7.150	2.54	0.776	-0.605	8.808	0.009	.	.	0.00259585	0.0016	0	0	0	0	0	.	0.0111	0.0001552	24	154602	rs529020866	0.0001	0.0001	8.002e-05	0.0001	0.0052	9.047e-05	8.501e-05	0.0044	0.0041	4.418e-05	0	0	0	0	0.0003	1.105e-06	0.0003	0.0052	0.0002	0.0002	0.0001	0.0003	0.0061	0.0001	0.0001	0.0043	0.0038	0	0	0	0	0	0	0	0	0	0.0061	.	.	.	0.083	0.41405	T	.	.	.	.	.	.	.	.	.	.	0.804289	0.34553	D	.	.	.	.	.	.	.	.	.	0.089	0.06720	-1.0041	0.28725	T	0.037	0.15856	T	7	0.005059868	0.00109	T	.	.	.	.	.	.	.	0.274366138417	0.27033	0.38297585609907964	0.38212	.	.	0.603620350361	0.53416	T	.	.	.	-0.222966	0.17590	T	-0.558052	0.16560	T	0.162311270833015	0.18041	T	0.30107	0.05662	T	.	.	.	.	.	.	.	.	-3.498	0.16403	T	.	.	0.060	0.00919	B	.	.	0.830724	0.12021	8.578	0.53867944754461061	0.05024	0.18195	0.20159	N	ALL	0.070642	0.14031	N	-0.488956763321949	0.22442	1.198358	-0.656198844211045	0.18060	0.9631385	0.999999937457133	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.6	2.54	0.29674	-0.306000	0.08217	-1.032000	0.06544	0.573000	0.29008	0.000000	0.06391	0.000000	0.08366	0.104000	0.18471	0.2257:0.7743:0.0:0.0	8.808	0.34111	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	292.98	35	chr22	37019870	.	C	G	292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=684;ExcessHet=0.0000;FS=4.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.850e-01;SOR=1.381	GT:AD:DP:GQ:PL	0/1:31,15:46:99:307,0,726	20	0	1	0
chr22	37510307	37510307	-	CTCCTT	exonic	CARD10	.	nonframeshift insertion	CARD10:NM_014550:exon4:c.813_814insAAGGAG:p.E273_P274insKE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16961.64	74	chr22	37510301	.	GCTCCTT	G,GCTCCTTCTCCTT	16961.64	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=-1.560e-01;DP=1329;ExcessHet=0.2067;FS=0.550;InbreedingCoeff=0.2125;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=27.36;ReadPosRankSum=0.379;SOR=0.644	GT:AD:DP:GQ:PL	1/1:0,76,0:76:99:3402,230,0,3402,230,3402	13	1	6	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P	.	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.956	D	0.079	N	0.984	D	3.03	M	-0.46	T	0.414	D	0.663	D	0.879	2.493	14.30	3.52	1.832	2.182	8.696	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	891.68	38	chr22	42128812	.	A	G	891.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.540e-01;DP=1677;ExcessHet=0.3300;FS=18.967;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=52.04;MQRankSum=-5.575e+00;QD=1.64;ReadPosRankSum=-3.230e+00;SOR=2.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,14:195:43:0|1:42128812_A_G:43,0,7529:42128812	18	0	3	0
chr22	42572511	42572511	G	A	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon9:c.G615A:p.M205I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.007	B	0.199	N	1.000	N	-0.695	N	2.59	T	-1.048	T	0.075	T	0.357	-0.167	3.186	-1.28	-0.243	-0.187	2.299	0.032	0.0101292604596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.841e-07	1.363e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.35165	T	0.191	0.46182	T	0.002	0.11197	B	0.004	0.12992	B	0.198932	0.16651	N	0.522214	1	0.18198	N	0.55	0.14455	N	-0.25	0.67011	T	-0.25	0.11185	N	0.19	0.27554	-1.0482	0.14903	T	0.075	0.30117	T	10	0.06772247	0.09475	T	0.010129	0.26302	T	0.032	0.07718	0.455	0.51938	0.193865811164	0.18958	0.29226090172237906	0.29139	0.00189985442068	0.00161	0.413026571274	0.26876	T	4.96E-4	0.00182	T	-0.105456	0.35522	T	-0.389257	0.34638	T	0.0553896017372608	0.06423	T	0.456654	0.19007	T	0.05405611	0.10320	0.050292447	0.07865	0.05405611	0.10319	0.050292447	0.07864	-4.834	0.34985	T	.	.	0.302	0.65172	B	.;.;.	.;.;.	0.681041	0.10493	7.210	0.66023524221425101	0.07939	0.05457	0.11336	N	AEFDBCI	0.032710	0.03746	N	-1.48319150591985	0.01968	0.08643538	-1.51352372375958	0.02240	0.1027055	0.0412059671507482	0.14474	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	2.27	-1.28	0.08834	-0.415000	0.07170	0.132000	0.15059	-0.244000	0.07312	0.000000	0.06391	0.007000	0.19602	0.004000	0.06068	0.2991:0.0:0.2844:0.4165	2.299	0.03903	254	0.90023	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	933.98	34	chr22	42572511	.	G	A	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.250e-01;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.84;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-1.700e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:36,39:75:99:948,0,880	20	0	1	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9259.9	36	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C,*	9259.9	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=1.32;DP=1395;ExcessHet=0.0303;FS=0.551;InbreedingCoeff=0.3824;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-6.650e-01;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,35,36:71:99:0|1:49922284_CG_C:2717,1092,892,1083,0,945:49922284	15	1	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,35:71:99:1|1:49922284_CG_C:1825,1589,1492,200,180,0:49922284	7	1	7	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1933.0	36	chr22	49922325	.	G	C,*	1933.0	.	AC=1,7;AF=0.025,0.175;AN=40;BaseQRankSum=1.19;DP=1482;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3872;MLEAC=1,7;MLEAF=0.025,0.175;MQ=60.00;MQRankSum=0.00;QD=3.70;ReadPosRankSum=1.36;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,35:71:99:1|1:49922284_CG_C:1825,1589,1492,200,180,0:49922284	14	0	1	1
chr22	50261196	50261196	G	A	exonic	MAPK12	.	nonsynonymous SNV	MAPK12:NM_001303252:exon2:c.C226T:p.R76C	.	.	417	1089	16	0	0	16	0.00729262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.004	U	1.000	D	1.225	L	-0.24	T	-0.345	T	0.351	T	0.649	4.487	24.0	3.9	2.017	1.295	11.029	0.407	0.858093496087	0.0008	0.000599042	0.0021	0.0007	0.0020	0	0.0006	0.0030	0.0044	0.0010	0.0010931	169	154602	rs138533200	0.0009	0.0009	0.0009	0.0009	0.0248	0.0008	0.0008	0.0215	0.0202	0.0008	0.0012	0.0041	2.643e-05	1.973e-05	0.0248	0.0007	0.0023	0.0009	0.0010	0.0010	0.0009	0.0010	0.0023	0.0008	0.0008	0.0017	0.0015	0.0003	0	0.0023	0.0043	0	0	0.0204	0.0010	0.0019	0.0010	0.012	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.004312	0.33881	U	0.000000	1	0.81001	D	1.815	0.47718	L	-0.24	0.66834	T	-6.23	0.90530	D	0.735	0.73555	-0.3450	0.73699	T	0.351	0.71525	T	10	0.066975355	0.09263	T	0.858093	0.98909	D	0.407	0.71946	.	.	0.823601361403	0.82193	0.5844710984958643	0.58377	0.695200239805	0.60803	0.902423501015	0.96704	D	0.363801	0.72949	T	-0.193926	0.21683	T	-0.0918716	0.64021	T	0.0904900214451298	0.11276	T	0.760924	0.43272	T	0.7570611	0.81280	0.65741473	0.79937	0.7570611	0.81282	0.65741473	0.79938	-13.563	0.92037	D	.	.	0.172	0.53785	B	.;.;.	.;.;.	6.002999	0.94312	34	0.99895537334446627	0.96895	0.89178	0.49488	D	ALL	0.539546	0.55648	D	0.422418793194856	0.62657	4.485218	0.381455693999127	0.60420	4.229597	0.999999999998644	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.9	3.9	0.44240	2.949000	0.48766	8.134000	0.76663	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8138:0.1862	11.029	0.46977	624	0.65661	.;Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1691.11	34	chr22	50261196	.	G	A	1691.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.761;DP=821;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=0.117;SOR=0.673	GT:AD:DP:GQ:PL	0/1:31,37:68:99:849,0,630	19	0	2	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M,	.	.	434	1062	26	0	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.982	D	0.729	P	.	.	1.000	N	0	N	2.01	T	-1.044	T	0.046	T	0.148	1.382	10.55	0.463	0.480	0.607	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	1586.35	41	chrX	6533750	.	C	T	1586.35	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.74;DP=3712;ExcessHet=0.3300;FS=8.040;InbreedingCoeff=-0.0877;MLEAC=3;MLEAF=0.071;MQ=54.96;MQRankSum=-4.348e+00;QD=1.38;ReadPosRankSum=-3.580e+00;SOR=1.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:574,53:627:99:0|1:6533736_G_C:336,0,23748:6533736	18	0	3	0
chrX	6533824	6533883	TCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	-	exonic	VCX3A	.	nonframeshift deletion	VCX3A:NM_016379:exon3:c.423_482del:p.V160_E179del,	.	.	45	125	45	1	10	57	0.158249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0006	6.599e-05	0.0042	0.0004	0.0004	0.0031	0.0027	0.0003	0.0005	0.0028	0.0042	0.0009	0.0014	0.0003	0.0010	0.0004	0.0044	0.0088	0.0058	0	0.0074	0.0039	0.0038	0.0043	0.0039	0.0053	0.0028	0.0055	0.0040	0.0074	0.0053	0.0227	0.0036	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:107,0,44,0:151:99:.:.:886,1348,8932,0,4064,9825,2097,8969,10164,14931	2	0	1	11
chrX	6533823	6533883	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	0	exonic	VCX3A	.	.	.	.	.	627	586	269	6	34	315	0.193393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:107,0,44,0:151:99:.:.:886,1348,8932,0,4064,9825,2097,8969,10164,14931	2	0	1	11
chrX	6533921	6533921	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C385G:p.Q129E,	.	.	543	966	2	0	11	13	0.00103413	.	.	215626	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.95	T	0.02	B	0.002	B	.	.	1.000	N	1.15	L	2.35	T	-0.939	T	0.019	T	0.077	-1.123	0.123	.	-2.726	-3.634	3.380	0.021	0.00100473547963	.	.	0.0006	0.0006	0	0.0002	0.0005	0.0008	0	0.0004	0.0003074	8	26028	rs139657007	0.0002	0.0006	0.0003	1.211e-05	0.0015	0.0002	0.0002	0.0005	0.0003	0.0002	0.0002	0.0004	3.458e-05	0.0011	0.0015	0.0002	0.0004	0.0001	0.0011	0.0016	0.0014	0	0.0018	0.0009	0.0008	0.0014	0.0012	0.0018	0	0.0007	0.0005	0	0.0009	0	0.0010	0	0.0006	0.681	0.04417	T	0.914	0.02926	T	0.02	0.18235	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.35	0.16217	T	-0.48	0.15379	N	0.073	0.04668	-0.9390	0.42774	T	0.019	0.08173	T	8	0.017632455	0.00378	T	0.001005	0.01073	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.0013055078381560828	0.00120	0.28885402027	0.31292	0.460381567478	0.33362	T	9.57E-4	0.00501	T	-0.910172	0.00000	T	-1.09919	0.00028	T	0.00686715525122581	0.00078	T	0.454955	0.12997	T	0.1174931	0.27699	0.07922997	0.17819	0.1174931	0.27699	0.07922997	0.17818	-2.396	0.05108	T	.	.	0.036	0.00006	B	.	.	-1.616596	0.00232	0.004	0.22995920600298814	0.00951	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	7.2036496174935E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.428000	0.00527	-3.340000	0.02863	-3.294000	0.00099	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4896:0.2637:0.2466	3.380	0.06828	1000	0.00083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1235.1	75	chrX	6533921	.	G	C,GGCTCTCCTGACTCAGTGGTTCTTCCACCTC	1235.1	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.946;DP=1251;ExcessHet=0.1072;FS=48.252;InbreedingCoeff=-0.0504;MLEAC=1,1;MLEAF=0.024,0.024;MQ=35.85;MQRankSum=1.61;QD=8.29;ReadPosRankSum=0.347;SOR=2.603	GT:AD:DP:GQ:PL	0/1:64,10,0:75:99:914,0,4735,861,3834,4459	19	0	1	0
chrX	6533921	6533921	-	GCTCTCCTGACTCAGTGGTTCTTCCACCTC	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.384_385insGAGGTGGAAGAACCACTGAGTCAGGAGAGC:p.S128_Q129insEVEEPLSQES,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	7.68e-05	2	26028	rs1363855103	0.0009	0.0032	0.0013	1.523e-05	0.0019	0.0009	0.0008	0.0009	0.0009	0.0002	0.0005	0.0020	6.911e-05	0.0009	0.0019	0.0010	0.0017	5.985e-05	0.0012	0.0018	0.0016	5.244e-05	0.0016	0.0010	0.0010	0.0013	0.0012	0.0005	0.0220	0.0016	0.0014	0.0004	0.0002	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1235.1	75	chrX	6533921	.	G	C,GGCTCTCCTGACTCAGTGGTTCTTCCACCTC	1235.1	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.946;DP=1251;ExcessHet=0.1072;FS=48.252;InbreedingCoeff=-0.0504;MLEAC=1,1;MLEAF=0.024,0.024;MQ=35.85;MQRankSum=1.61;QD=8.29;ReadPosRankSum=0.347;SOR=2.603	GT:AD:DP:GQ:PL	0/1:64,10,0:75:99:914,0,4735,861,3834,4459	19	0	1	0
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,274,0,0:274:99:.:.:8857,833,0,7785,812,8155,7785,812,8155,8155	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,274,0,0:274:99:.:.:8857,833,0,7785,812,8155,7785,812,8155,8155	0	8	6	4
chrX	8466006	8466035	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.364_393del:p.Q129_S138del,	.	.	621	857	9	1	34	45	0.00637681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	8.236e-05	0	0.0009	0.0001617	25	154602	rs768996666	0.0024	0.0022	0.0028	0.0012	0.0042	0.0023	0.0023	0.0023	0.0021	0.0005	0.0029	0.0044	0.0007	0.0042	0.0042	0.0023	0.0040	0.0021	0.0006	0.0010	0.0007	0	0.0007	0.0004	0.0004	0.0005	0.0004	5.67e-05	0.0081	0.0004	0.0018	0.0007	0.0021	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3818.94	57	chrX	8466005	.	AGAACCACTGAGTCAGGAGAGCCAGGTGGAG	A	3818.94	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.690e+00;DP=843;ExcessHet=0.3300;FS=37.956;InbreedingCoeff=-0.0832;MLEAC=3;MLEAF=0.071;MQ=40.50;MQRankSum=0.706;QD=15.28;ReadPosRankSum=-2.108e+00;SOR=0.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,36:77:99:0|1:8466005_AGAACCACTGAGTCAGGAGAGCCAGGTGGAG_A:1181,0,1195:8466005	18	0	3	0
chrX	8466126	8466215	GAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.484_573del:p.E169_S198del,	.	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0099	0.0021	0.0061	0.0003	0.0005	0	0.0013	3.84e-05	1	26028	.	0.0037	0.0043	0.0046	0.0012	0.0412	0.0036	0.0036	0.0387	0.0377	0.0127	0.0412	0.0042	0.0227	0.0085	0.0074	0.0016	0.0073	0.0067	0.0085	0.0086	0.0103	0.0001	0.0528	0.0077	0.0074	0.0384	0.0335	0.0377	0	0.0279	0.0007	0.0528	0.0031	0	0.0034	0.0021	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1970.09	8	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	AGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA,G	1970.09	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=-8.600e-01;DP=1087;ExcessHet=0.1259;FS=0.000;InbreedingCoeff=-0.0778;MLEAC=1,1;MLEAF=0.028,0.028;MQ=44.85;MQRankSum=1.66;QD=7.70;ReadPosRankSum=-5.812e+00;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,32,0:150:99:0|1:8466005_AGAACCACTGAGTCAGGAGAGCCAGGTGGAG_A:742,0,4514,1093,4610,5703:8466005	16	0	1	3
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,25,0:159:86:0|1:10469688_G_A:86,0,5137,489,5207,5696:10469688	10	0	10	0
chrX	10469688	10469688	G	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294G:p.L432V	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.056298643	0.06289	T	.	.	.	.	.	.	.	0.327401308167	0.32341	.	.	.	.	.	.	.	0.002243	0.01642	T	-0.246398	0.14543	T	-0.59171	0.13519	T	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20391	B	.	.	2.708854	0.35399	19.89	0.75207624297957498	0.10986	0.17709	0.19954	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	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,25,0:159:86:0|1:10469688_G_A:86,0,5137,489,5207,5696:10469688	10	0	10	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C	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	0.2895	2549.41	154	chrX	10469690	.	T	C	2549.41	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.832e+00;DP=2194;ExcessHet=7.7275;FS=128.174;InbreedingCoeff=-0.4080;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.463;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,27:162:98:0|1:10469688_G_A:98,0,5139:10469688	8	0	11	2
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2167.81	117	chrX	10469693	.	T	C	2167.81	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.149e+00;DP=2021;ExcessHet=4.7172;FS=131.479;InbreedingCoeff=-0.2861;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.93;ReadPosRankSum=0.361;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,27:162:98:0|1:10469688_G_A:98,0,5138:10469688	12	0	9	0
chrX	16743773	16743773	G	A	exonic	SYAP1	.	nonsynonymous SNV	SYAP1:NM_032796:exon5:c.G508A:p.V170M,	.	.	.	.	.	.	.	.	.	.	.	3324035	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.997	D	0.912	D	0.001	D	1.000	N	1.63	L	0.95	T	-0.949	T	0.167	T	0.354	1.972	12.55	2.62	0.131	1.413	10.05	0.136	0.0228816153272	.	0.000529801	0.0002	0	0	0	0	0	0.0016	0.0013	0.0001552	24	154602	rs753989361	6.198e-05	6.192e-05	4.22e-05	0.0001	0.0009	4.966e-05	4.544e-05	0.0007	0.0006	0.0001	0	0	6.624e-05	0	0.0002	1.189e-05	4.342e-05	0.0009	5.399e-05	5.228e-05	6.43e-05	2.996e-05	0.0015	2.337e-05	1.572e-05	0.0005	0.0003	3.262e-05	0	0	0	0	0	0	1.886e-05	0	0.0015	0.064	0.36509	T	0.124	0.35455	T	0.815	0.45525	P	0.353	0.42910	B	0.000516	0.43753	D	0.194562	0.999955	0.19072	N	1.565	0.39561	L	0.95	0.43279	T	-2.19	0.49352	N	0.137	0.13484	-0.9491	0.41126	T	0.167	0.50518	T	10	0.031309187	0.01265	T	0.022882	0.45806	T	0.136	0.36778	.	.	0.248133497653	0.24425	0.28687057455757864	0.28600	1.2898225746	0.82758	0.577115118504	0.49679	T	0.164472	0.50994	T	-0.540807	0.00331	T	-0.600049	0.12806	T	0.307818502187729	0.25324	T	0.909109	0.67839	D	0.08394922	0.19409	0.20758939	0.45023	0.08394922	0.19409	0.20758939	0.45022	-8.611	0.65162	D	.	.	0.169	0.37102	B	.	.	2.608427	0.33872	19.47	0.99231403115383987	0.56246	0.65373	0.32716	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999979899487421	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.31	2.62	0.30337	1.663000	0.37045	3.258000	0.37072	-0.110000	0.15115	0.961000	0.33663	1.000000	0.68203	0.433000	0.27516	0.224:0.0:0.776:0.0	10.05	0.41383	377	0.83897	BSD domain|BSD domain|BSD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1456.98	38	chrX	16743773	.	G	A	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.048;DP=899;ExcessHet=0.0000;FS=4.082;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-2.850e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/1:65,67:132:99:1471,0,1359	20	0	1	0
chrX	18195346	18195346	G	C	exonic	BEND2	.	nonsynonymous SNV	BEND2:NM_153346:exon7:c.C1130G:p.T377R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.127	B	0.024	B	.	.	1.000	N	0	N	1.9	T	-1.029	T	0.020	T	0.086	-1.217	0.064	-6.42	-2.755	-3.001	0.444	0.027	0.00173526466162	.	.	1.142e-05	0	0	0	0	0	0	9.983e-05	1.29e-05	2	154602	rs28496595	2.739e-06	2.732e-06	2.723e-06	2.772e-06	3.716e-05	7.3e-07	2e-07	6.16e-06	2.31e-06	0	0	0	0	0	0	0	2.174e-05	3.716e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.49120	D	0.127	0.26966	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.9	0.23486	T	-0.62	0.18248	N	0.122	0.11340	-1.0292	0.20713	T	0.020	0.08266	T	9	0.034395784	0.01646	T	0.001735	0.02908	T	0.027	0.05988	0.16	0.06396	0.0401082797425	0.02173	0.1271170727694236	0.12637	0.228472883328	0.25400	0.256947606802	0.04534	T	0.004097	0.03512	T	-0.670411	0.00055	T	-1.04441	0.00072	T	0.0439442254554685	0.04410	T	0.30417	0.05788	T	0.23005062	0.45753	0.10165418	0.24343	0.23005062	0.45753	0.10165418	0.24342	-3.989	0.23639	T	.	.	0.106	0.19559	B	.	.	-2.232179	0.00059	0.001	0.24050775762914883	0.01045	0.00397	0.01986	N	AEFBI	.	.	.	.	.	.	.	.	.	0.11485875860547	0.16742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.21	-6.42	0.01760	-4.498000	0.00258	-20.000000	0.00162	-2.812000	0.00182	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3453:0.1199:0.1988:0.3361	0.444	0.00457	548	0.72362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	827.98	34	chrX	18195346	.	G	C	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.911;DP=775;ExcessHet=0.0000;FS=1.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=0.575;SOR=0.533	GT:AD:DP:GQ:PL	0/1:55,38:93:99:842,0,1249	20	0	1	0
chrX	18924401	18924401	G	C	exonic	PHKA2	.	nonsynonymous SNV	PHKA2:NM_000292:exon16:c.C1694G:p.P565R,	Glycogen storage disease, type IXa1, X-linked recessive;Glycogen storage disease, type IXa2, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.996	D	0.979	D	0.000	D	1.000	D	3.1	M	-2.78	D	0.957	D	0.874	D	0.982	4.516	24.3	5.17	2.284	7.740	17.649	0.943	0.677782639106	.	.	1.14e-05	0	0	0	0	2.085e-05	0	0	6.5e-06	1	154602	rs762376783	2.733e-06	2.732e-06	4.084e-06	0	1.848e-05	7.3e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.04	0.50809	D	0.996	0.68779	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.235	0.89610	M	-2.78	0.90962	D	-5.87	0.88630	D	0.93	0.93487	0.957	0.96497	D	0.874	0.95810	D	10	0.96861756	0.96400	D	0.677783	0.97325	D	0.943	0.98816	0.767	0.89452	0.941243362431	0.94063	0.8371376458686497	0.83673	0.843722952952	0.68185	0.671051442623	0.62987	T	0.851276	0.96618	D	0.54216	0.95498	D	0.592835	0.96920	D	0.970961435381408	0.69142	D	0.983002	0.94220	D	0.8023504	0.84056	0.6733631	0.80827	0.8023504	0.84058	0.6733631	0.80828	-14.673	0.95039	D	0.7849019258366935	0.86425	0.619	0.69665	P	.	.	4.376279	0.67425	25.1	0.99864489156126091	0.94276	0.98916	0.88583	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999770325	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	5.17	0.70848	7.957000	0.87405	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	17.649	0.88063	146	0.94180	GH15-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	934.98	35	chrX	18924401	.	G	C	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.519;DP=774;ExcessHet=0.0000;FS=0.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.368;SOR=0.518	GT:AD:DP:GQ:PL	0/1:38,36:74:99:949,0,1021	20	0	1	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:31,0,0,54,2,0,0:87:99:2047,2162,3432,2162,3432,3432,0,1228,1228,1122,2073,3304,3304,1063,3346,2162,3432,3432,1228,3304,3432,2162,3432,3432,1228,3304,3432,3432	8	0	1	0
chrX	24364259	24364259	-	TGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGC:p.A543_P544insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:31,0,0,54,2,0,0:87:99:2047,2162,3432,2162,3432,3432,0,1228,1228,1122,2073,3304,3304,1063,3346,2162,3432,3432,1228,3304,3432,2162,3432,3432,1228,3304,3432,3432	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGC:p.A543_P544insAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:31,0,0,54,2,0,0:87:99:2047,2162,3432,2162,3432,3432,0,1228,1228,1122,2073,3304,3304,1063,3346,2162,3432,3432,1228,3304,3432,2162,3432,3432,1228,3304,3432,3432	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGC:p.A543_P544insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:31,0,0,54,2,0,0:87:99:2047,2162,3432,2162,3432,3432,0,1228,1228,1122,2073,3304,3304,1063,3346,2162,3432,3432,1228,3304,3432,2162,3432,3432,1228,3304,3432,3432	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:31,0,0,54,2,0,0:87:99:2047,2162,3432,2162,3432,3432,0,1228,1228,1122,2073,3304,3304,1063,3346,2162,3432,3432,1228,3304,3432,2162,3432,3432,1228,3304,3432,3432	8	0	1	0
chrX	27462734	27462734	G	A	exonic	PPP4R3C	.	nonsynonymous SNV	PPP4R3C:NM_207319:exon1:c.C563T:p.T188I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.79e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs770069804	3.944e-05	3.497e-05	4.294e-05	3.345e-05	0.0001	2.433e-05	1.987e-05	3.545e-05	2.146e-05	0	0	0	0	0	0	4.249e-05	8.573e-05	0.0001	1.782e-05	1.741e-05	2.57e-05	0	3.754e-05	2.96e-06	1.11e-06	6.23e-06	2.33e-06	0	0	0	0	0	0	0	3.754e-05	0	0	.	.	.	.	.	.	0.043	0.21573	B	0.101	0.30765	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077360064	0.12200	T	.	.	.	.	.	.	.	.	.	0.2424708315030481	0.24161	.	.	.	.	.	0.016837	0.13838	T	.	.	.	.	.	.	.	.	.	0.70293	0.31283	T	0.055237796	0.10709	0.13711146	0.32783	0.055237796	0.10709	0.13711146	0.32782	-2.945	0.09600	T	.	.	0.120	0.24934	B	.	.	-0.240244	0.02892	0.414	0.43626164288869551	0.03297	0.27767	0.23369	N	AEFGI	.	.	.	.	.	.	.	.	.	0.00105004558953336	0.08159	.	.	.	.	.	.	.	.	.	.	.	.	0.0497025	0.09175	4.68	-4.04	0.03741	1.169000	0.31480	-0.201000	0.10944	-0.116000	0.14526	0.789000	0.29582	0.000000	0.08366	0.005000	0.06747	0.668:0.0:0.332:0.0	12.860	0.57293	637	0.64373	Domain of unknown function DUF625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	57.45	7	chrX	27462734	.	G	A	57.45	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.080e-01;DP=108;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0641;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=8.21;ReadPosRankSum=0.00;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,3:7:70:70,0,96	19	0	1	1
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/6:0,27,0,0,0,0,7:34:99:1345,267,248,1349,303,1376,1349,303,1376,1376,1349,303,1376,1376,1376,1349,303,1376,1376,1376,1376,1072,0,1075,1075,1075,1075,1050	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/6:0,27,0,0,0,0,7:34:99:1345,267,248,1349,303,1376,1349,303,1376,1376,1349,303,1376,1376,1376,1349,303,1376,1376,1376,1376,1072,0,1075,1075,1075,1075,1050	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/6:0,27,0,0,0,0,7:34:99:1345,267,248,1349,303,1376,1349,303,1376,1376,1349,303,1376,1376,1376,1349,303,1376,1376,1376,1376,1072,0,1075,1075,1075,1075,1050	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/6:0,27,0,0,0,0,7:34:99:1345,267,248,1349,303,1376,1349,303,1376,1376,1349,303,1376,1376,1376,1349,303,1376,1376,1376,1376,1072,0,1075,1075,1075,1075,1050	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/6:0,27,0,0,0,0,7:34:99:1345,267,248,1349,303,1376,1349,303,1376,1376,1349,303,1376,1376,1376,1349,303,1376,1376,1376,1376,1072,0,1075,1075,1075,1075,1050	7	4	1	0
chrX	32573580	32573580	T	C	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon15:c.A1738G:p.T580A	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	589740	not_provided|Duchenne_muscular_dystrophy	MedGen:C3661900|MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.003	B	0.308	U	1.000	D	0.69	N	1.34	T	-1.085	T	0.058	T	0.063	0.969	8.956	4.97	1.637	2.061	8.584	0.053	0.00789328035976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.107e-07	9.105e-07	0	2.751e-06	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.121	0.35970	T	0.0	0.02946	B	0.001	0.04355	B	0.308342	0.14477	U	0.490245	0.999996	0.08975	N	.	.	.	1.34	0.34841	T	-1.12	0.34198	N	0.157	0.16308	-1.0851	0.06389	T	0.058	0.24354	T	10	0.14016235	0.26644	T	0.007893	0.20929	T	0.053	0.14996	0.26	0.20315	0.475088142717	0.47136	0.09046462451222652	0.08979	0.0167627881423	0.01621	0.31932118535	0.13318	T	0.245851	0.62733	T	-0.405164	0.02141	T	-0.819767	0.01457	T	0.0963296050829301	0.11948	T	0.70043	0.33152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01834	B	.;.;.;.;.	.;.;.;.;.	1.682529	0.21443	15.20	0.95561966198745429	0.27241	0.86944	0.46341	D	AEFI	.	.	.	.	.	.	.	.	.	0.201485191764815	0.18128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.97	4.97	0.65419	2.248000	0.42812	0.593000	0.19842	0.603000	0.45986	1.000000	0.71638	0.999000	0.35428	0.976000	0.56436	0.0:0.0881:0.0:0.9119	8.584	0.32807	866	0.32446	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2045.98	39	chrX	32573580	.	T	C	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.670e-01;DP=888;ExcessHet=0.0000;FS=2.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=1.73;SOR=0.652	GT:AD:DP:GQ:PL	0/1:92,87:179:99:2060,0,2350	20	0	1	0
chrX	35971591	35971591	G	A	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon12:c.G1976A:p.R659H	.	.	447	1074	1	0	0	1	0.000465333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.001	B	0.068	N	1.000	N	-0.41	N	2.47	T	-1.011	T	0.013	T	0.057	0.276	5.495	-9.83	-2.100	-2.984	2.723	0.027	0.00175221655618	9.5e-05	0.0010596	0.0007	0.0006	0	0	0	0	0.0063	0.0042	0.0002652	41	154602	rs368056515	0.0001	0.0002	0.0001	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	4.443e-05	4.375e-05	0.0004	0	0	0	3.205e-05	0.0004	0.0020	0.0001	0.0001	0.0001	0.0001	0.0034	8.989e-05	7.263e-05	0.0018	0.0013	0.0002	0	0	0	0	0	0	0	0	0.0034	0.543	0.06735	T	0.594	0.08106	T	0.001	0.07471	B	0.001	0.04355	B	0.068177	0.02219	N	1.717000	1	0.08975	N	.	.	.	2.47	0.14783	T	0.96	0.01488	N	0.059	0.03069	-1.0109	0.26635	T	0.013	0.05273	T	10	0.0041236877	0.00081	T	0.001752	0.02960	T	0.027	0.05988	.	.	0.0675242888579	0.06100	0.10274574321488049	0.10204	0.12962816573	0.14613	.	.	.	0.003781	0.03191	T	-0.962558	0.00000	T	-1.1619	0.00006	T	0.00344381233506439	0.00036	T	0.304969	0.05824	T	0.028730648	0.02255	0.029936593	0.01387	0.028730648	0.02255	0.029936593	0.01387	-4.777	0.34322	T	.	.	0.072	0.04436	B	.;.	.;.	-1.671334	0.00207	0.003	0.42894575922686357	0.03192	0.00489	0.02319	N	AEFI	.	.	.	.	.	.	.	.	.	0.99011909196719	0.32043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	-9.83	0.00400	-2.737000	0.00871	-1.872000	0.04576	-0.740000	0.03671	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4488:0.1759:0.2725:0.1028	2.723	0.04885	571	0.70397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	165.98	24	chrX	35971591	.	G	A	165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.034;DP=428;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.22;ReadPosRankSum=-4.200e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:15,8:23:99:180,0,400	20	0	1	0
chrX	49212776	49212776	C	T	exonic	CACNA1F	.	nonsynonymous SNV	CACNA1F:NM_001256789:exon33:c.G3833A:p.R1278H	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	.	.	.	.	.	.	.	.	.	.	850137	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.994	D	0.000	N	1.000	D	1.86	L	-4.04	D	0.444	D	0.936	D	0.504	3.193	16.69	4.75	1.947	5.810	15.695	0.739	0.209395548001	.	.	9.381e-05	0	0	0	0	0.0001	0	0.0001	9.06e-05	14	154602	rs782330306	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0002	0.0002	3.79e-05	8.545e-05	5.17e-05	0	2.472e-05	0.0005	0.0002	0.0001	1.859e-05	0.0001	0.0001	0.0001	8.935e-05	0.0003	7.576e-05	6.087e-05	0.0001	8.99e-05	0	0	0.0003	0	0	0	0	0.0002	0	0	0.065	0.37536	T	0.334	0.18340	T	1.0	0.90584	D	0.994	0.82059	D	0.000244	0.00537	N	3.751840	0.999989	0.54805	D	2.47	0.71715	M	-4.12	0.96716	D	-4.52	0.78302	D	0.479	0.51405	0.444	0.89742	D	0.936	0.97900	D	10	0.37038147	0.53428	T	0.209396	0.87197	D	0.739	0.90939	.	.	0.90617919937	0.90524	0.7865700768145548	0.78609	0.805079556245	0.66422	0.749691069126	0.74400	T	0.880397	0.97488	D	0.0456704	0.57784	T	0.107261	0.77392	D	0.320626340015907	0.25847	T	0.948405	0.80130	D	0.3323757	0.55665	0.2672007	0.52574	0.3323757	0.55665	0.2672007	0.52573	-12.682	0.88556	D	0.22344521764392847	0.30162	0.299	0.64577	B	.;.;.	.;.;.	4.960941	0.82019	27.7	0.99920382569407085	0.98721	0.92076	0.54891	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999482415022961	0.39952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.75	4.75	0.59954	5.921000	0.69750	4.848000	0.45348	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	15.695	0.77249	38	0.97995	.;.;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1440.98	37	chrX	49212776	.	C	T	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.910;DP=807;ExcessHet=0.0000;FS=4.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-4.430e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1455,0,1433	20	0	1	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S	.	.	548	918	55	1	0	57	0.0301109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.626	P	0.34	B	.	.	1.000	N	0.995	L	2.43	T	-1.027	T	0.034	T	0.13	1.685	11.59	0.78	0.561	0.553	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1316	161.85	21	chrX	49332776	.	A	T	161.85	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.195e+00;DP=273;ExcessHet=0.0454;FS=4.060;InbreedingCoeff=0.1396;MLEAC=5;MLEAF=0.132;MQ=29.40;MQRankSum=-1.559e+00;QD=4.37;ReadPosRankSum=2.20;SOR=0.136	GT:AD:DP:GQ:PL	0/1:9,4:13:60:60,0,233	15	1	3	2
chrX	49689423	49689423	T	C	exonic	PAGE1	.	nonsynonymous SNV	PAGE1:NM_003785:exon5:c.A413G:p.E138G,	.	.	438	1017	40	27	0	94	0.0441729	.	.	706262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.985	D	0.795	P	.	.	1.000	N	2.445	M	2.42	T	-1.057	T	0.052	T	0.345	1.616	11.36	-0.188	-0.133	0.630	2.833	0.069	.	0.0057	0.00794702	0.0100	0.0011	0.0029	0	0.0073	0.0099	0.0174	0.0319	0.0093595	1447	154602	rs151117508	0.0091	0.0092	0.0086	0.0102	0.0574	0.0089	0.0088	0.0510	0.0486	0.0013	0.0032	0.0136	9.123e-05	0.0084	0.0574	0.0080	0.0095	0.0311	0.0074	0.0080	0.0075	0.0070	0.0277	0.0070	0.0068	0.0219	0.0198	0.0014	0	0.0069	0.0186	0.0003	0.0103	0.0515	0.0095	0.0102	0.0277	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.795	0.57940	P	.	.	.	.	1	0.08975	N	2.395	0.69210	M	2.42	0.15376	T	-1.7	0.40468	N	0.098	0.07949	-1.0567	0.12595	T	0.052	0.22269	T	9	0.004495859	0.00092	T	.	.	.	0.069	0.20116	.	.	.	.	0.03342421481623945	0.03290	0.247465964204	0.27293	0.304119497538	0.11019	T	0.041785	0.25971	T	-0.607123	0.00132	T	-0.622554	0.10987	T	0.0351667141618346	0.02836	T	0.621038	0.23867	T	0.1517187	0.34476	0.17844623	0.40515	0.1517187	0.34476	0.17844623	0.40514	-3.676	0.18965	T	.	.	0.110	0.21277	B	.	.	2.369921	0.30405	18.43	0.993574185376907	0.60862	0.00675	0.02904	N	AEFI	.	.	.	.	.	.	.	.	.	9.47816147302976E-5	0.04910	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03	-0.188	0.12612	0.650000	0.24544	-0.051000	0.12545	0.366000	0.20181	0.130000	0.23345	0.000000	0.08366	0.003000	0.05239	0.0:0.3419:0.0:0.6581	2.833	0.05166	162	0.93704	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2819.66	34	chrX	49689423	.	T	C	2819.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.070;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=1.04;SOR=0.646	GT:AD:DP:GQ:PL	0/1:51,44:95:99:893,0,1033	19	1	1	0
chrX	51618674	51618674	G	A	exonic	CENPVL3	.	nonsynonymous SNV	CENPVL3:NM_001355276:exon1:c.C200T:p.A67V,	.	.	972	545	2	3	0	8	0.00728597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000529801	.	.	.	.	.	.	.	.	0.00146	38	26028	rs538868460	0.0051	0.0021	0.0049	0.0055	0.0185	0.0048	0.0047	0.0118	0.0097	0.0007	0.0025	0.0252	0	0.0008	0.0185	0.0055	0.0059	0.0005	0.0033	0.0035	0.0035	0.0031	0.0047	0.0031	0.0030	0.0042	0.0040	0.0005	0	0.0031	0.0253	0	0	0.0047	0.0047	0.0045	0.0011	.	.	.	0.536	0.09897	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.004308492	0.00087	T	.	.	.	.	.	.	.	.	.	0.0970760568449574	0.09638	.	.	.	.	.	0.01623	0.13458	T	.	.	.	.	.	.	.	.	.	0.246775	0.03632	T	0.028518168	0.02202	0.09111467	0.21405	0.028518168	0.02201	0.09111467	0.21404	-5.089	0.37791	T	.	.	0.070	0.03552	B	.	.	-0.144471	0.03387	0.607	0.97837391998570089	0.36305	0.00190	0.01102	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.682707950331134	0.22498	.	.	.	.	.	.	.	.	.	.	.	.	0.0762906	0.17648	2.4	-0.294	0.12196	-1.058000	0.03593	-0.537000	0.08604	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.3043:0.0:0.6957:0.0	7.169	0.24883	238	0.90711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	502.98	33	chrX	51618674	.	G	A	502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=812;ExcessHet=0.0000;FS=3.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.19;ReadPosRankSum=-1.945e+00;SOR=1.211	GT:AD:DP:GQ:PL	0/1:47,23:70:99:517,0,1029	20	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	0/1:124,624:748:99:16400,0,1541	0	6	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I	.	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.2	T	-0.995	T	0.031	T	0.047	-0.165	3.194	-3.2	-1.373	-0.117	6.324	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3824	41642.18	636	chrX	55146139	.	G	A	41642.18	.	AC=13;AF=0.382;AN=34;BaseQRankSum=0.241;DP=14777;ExcessHet=12.7758;FS=1.317;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.564;SOR=0.591	GT:AD:DP:GQ:PL	0/1:486,289:775:99:6414,0,12620	4	0	13	4
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S	.	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.013	B	.	.	1.000	N	0	N	1.03	T	-1.045	T	0.046	T	0.044	2.192	13.29	0.635	0.130	1.087	4.527	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	44724.71	464	chrX	55146173	.	G	A	44724.71	.	AC=16;AF=0.400;AN=40;BaseQRankSum=1.44;DP=14192;ExcessHet=22.9655;FS=0.657;InbreedingCoeff=-0.6471;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.470;SOR=0.810	GT:AD:DP:GQ:PL	0/1:479,276:755:99:6468,0,12476	4	0	16	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X	.	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.067	U	1.000	D	.	.	.	.	.	.	.	.	.	1.559	11.17	1.6	1.084	1.600	6.091	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	41330.81	464	chrX	55146197	.	G	A	41330.81	.	AC=17;AF=0.405;AN=42;BaseQRankSum=1.21;DP=12738;ExcessHet=25.1139;FS=0.664;InbreedingCoeff=-0.6768;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-3.990e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:426,222:648:99:5271,0,12831	4	0	17	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:154,436:590:99:11926,0,2604	0	1	20	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S	.	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.988	D	0.986	D	0.181	N	1.000	N	-0.08	N	1.06	T	-1.010	T	0.074	T	0.096	-0.199	3.032	0.436	0.049	0.532	2.954	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	12630.32	397	chrX	55146242	.	C	T	12630.32	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.806;DP=9077;ExcessHet=3.5521;FS=0.686;InbreedingCoeff=-0.2394;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=3.42;ReadPosRankSum=0.420;SOR=0.625	GT:AD:DP:GQ:PL	0/1:397,65:462:99:738,0,14388	13	0	8	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R	.	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.182	U	1.000	N	1.385	L	0.49	T	-0.956	T	0.213	T	0.424	2.149	13.14	1.6	1.084	1.915	6.091	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	30065.86	352	chrX	55146247	.	G	C	30065.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.033e+00;DP=8964;ExcessHet=20.9642;FS=0.691;InbreedingCoeff=-0.6153;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.83;ReadPosRankSum=-4.230e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,133:440:99:0|1:55146247_G_C:4493,0,12327:55146247	5	0	16	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13	.	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	29505.39	352	chrX	55146252	.	A	AT,G	29505.39	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.83;DP=8656;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6799;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=-5.690e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,128,0:426:99:0|1:55146247_G_C:4364,0,12093,5261,12478,17739:55146247	4	0	16	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	0/1:241,169:410:99:4183,0,8020	0	1	20	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8	.	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27841.82	280	chrX	55146255	.	TG	T	27841.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.845;DP=7945;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.80;ReadPosRankSum=-9.670e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,118:408:99:0|1:55146247_G_C:4082,0,11815:55146247	5	0	16	0
chrX	55146256	55146256	G	0	exonic	FAM104B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,118,0:408:99:0|1:55146247_G_C:4082,0,11815,4955,12170,17125:55146247	5	0	15	0
chrX	55146256	55146256	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C179A:p.A60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.712	P	0.402	B	0.061	U	1.000	N	1.04	L	0.84	T	-1.050	T	0.077	T	0.217	0.319	5.727	-0.582	-0.288	-0.780	2.532	0.029	0.00436554593426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.012	0.63918	D	0.712	0.42110	P	0.116	0.44547	B	0.061012	0.22205	U	0.310110	1	0.08975	N	1.295	0.32453	L	0.84	0.47477	T	-2.3	0.51157	N	0.257	0.29313	-1.0498	0.14453	T	0.077	0.30828	T	10	0.053805858	0.05630	T	0.004366	0.10624	T	0.029	0.06676	0.355	0.35571	0.156986980423	0.15292	0.24595024861261647	0.24509	0.191270352614	0.21451	0.305318623781	0.11200	T	0.047192	0.27649	T	-0.370384	0.03574	T	-0.769807	0.02774	T	0.165286540985107	0.18253	T	0.779322	0.41328	T	0.17303388	0.38027	0.2548788	0.51160	0.17303388	0.38027	0.2548788	0.51160	-2.801	0.10719	T	.	.	0.213	0.44174	B	.;.;.;.;.	.;.;.;.;.	0.380615	0.07526	4.173	0.39602496394885089	0.02743	0.01150	0.04159	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987547343258	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.582	0.11122	-0.412000	0.07197	-3.618000	0.02653	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.900000	0.43643	0.2511:0.3045:0.4444:0.0	2.532	0.04420	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,118,0:408:99:0|1:55146247_G_C:4082,0,11815,4955,12170,17125:55146247	5	0	15	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:107,200:307:99:6038,0,2355	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:205,62:267:99:1263,0,6862	5	0	15	1
chrX	66197877	66197877	G	A	exonic	HEPH	.	nonsynonymous SNV	HEPH:NM_014799:exon9:c.G895A:p.G299S	.	.	1	224	1	0	0	1	0.00222717	.	.	706286	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.77	T	0.006	B	0.004	B	0.357	N	0.953	N	0.84	L	-4.97	D	-0.021	T	0.738	D	0.241	-0.420	2.040	2.9	0.555	1.054	7.447	0.319	.	0.0052	0.00317881	0.0094	0.0011	0.0038	0	0.0484	0.0130	0.0122	0.0003	0.0060284	932	154602	rs35835670	0.0067	0.0067	0.0067	0.0066	0.0066	0.0066	0.0065	0.0065	0.0064	0.0005	0.0025	0.0084	0	0.0293	0.0050	0.0066	0.0055	0.0003	0.0063	0.0064	0.0060	0.0070	0.0079	0.0059	0.0058	0.0073	0.0070	0.0005	0.0058	0.0042	0.0094	0	0.0308	0	0.0079	0.0059	0.0004	0.69	0.04328	T	0.672	0.06265	T	0.006	0.13644	B	0.004	0.10090	B	0.356555	0.13735	N	0.717088	0.952657	0.37794	D	0.915	0.23335	L	-4.97	0.98468	D	0.18	0.05035	N	0.023	0.00407	-0.0207	0.81825	T	0.738	0.91058	D	10	0.0047680736	0.00101	T	.	.	.	0.319	0.64112	.	.	0.819352873408	0.81764	0.6688782993918188	0.66825	0.0825816560043	0.09315	0.379999279976	0.22256	T	0.094516	0.55391	T	-0.280846	0.10577	T	-0.165161	0.57885	T	0.00271096866685238	0.00028	T	0.510449	0.27528	T	0.09365842	0.22001	0.110990584	0.26769	0.09365842	0.22001	0.110990584	0.26769	-4.282	0.27924	T	.	.	0.072	0.07460	B	.;.;.;.;.	.;.;.;.;.	1.819622	0.23120	15.89	0.62966192234405172	0.07099	0.52659	0.29184	D	AEFBI	.	.	.	.	.	.	.	.	.	0.240769355564627	0.18568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	2.9	0.32809	1.299000	0.33028	5.054000	0.47025	0.618000	0.50648	0.829000	0.30118	1.000000	0.68203	0.933000	0.47100	0.3501:0.0:0.6499:0.0	7.447	0.26390	709	0.56835	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	904.98	34	chrX	66197877	.	G	A	904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.947;DP=700;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-3.060e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/1:25,33:58:99:919,0,638	20	0	1	0
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/6:2,0,0,0,0,0,5:18:31:201,247,560,247,560,560,247,560,560,560,247,560,560,560,560,247,560,560,560,560,560,0,89,89,89,89,89,31	5	3	1	1
chrX	67545326	67545334	GCAGCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.180_188del:p.Q78_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/6:2,0,0,0,0,0,5:18:31:201,247,560,247,560,560,247,560,560,560,247,560,560,560,560,247,560,560,560,560,560,0,89,89,89,89,89,31	5	3	1	1
chrX	67545332	67545334	GCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.186_188del:p.Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/6:2,0,0,0,0,0,5:18:31:201,247,560,247,560,560,247,560,560,560,247,560,560,560,560,247,560,560,560,560,560,0,89,89,89,89,89,31	5	3	1	1
chrX	67545329	67545334	GCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.183_188del:p.Q79_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/6:2,0,0,0,0,0,5:18:31:201,247,560,247,560,560,247,560,560,560,247,560,560,560,560,247,560,560,560,560,560,0,89,89,89,89,89,31	5	3	1	1
chrX	67545334	67545334	-	GCAGCAGCAGCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCAGCAGCAGCA:p.Q80_E81insQQQQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/6:2,0,0,0,0,0,5:18:31:201,247,560,247,560,560,247,560,560,560,247,560,560,560,560,247,560,560,560,560,560,0,89,89,89,89,89,31	5	3	1	1
chrX	67546547	67546547	-	GGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGC:p.G473_E474insG	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:13,0,0,0,27,0,0:40:99:.:.:1099,1138,1656,1138,1656,1656,1138,1656,1656,1656,0,518,518,518,432,1138,1656,1656,1656,518,1656,1138,1656,1656,1656,518,1656,1656	11	3	1	0
chrX	67546536	67546547	GGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1390_1401del:p.G470_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:13,0,0,0,27,0,0:40:99:.:.:1099,1138,1656,1138,1656,1656,1138,1656,1656,1656,0,518,518,518,432,1138,1656,1656,1656,518,1656,1138,1656,1656,1656,518,1656,1656	11	3	1	0
chrX	67546542	67546547	GGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1396_1401del:p.G472_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:13,0,0,0,27,0,0:40:99:.:.:1099,1138,1656,1138,1656,1656,1138,1656,1656,1656,0,518,518,518,432,1138,1656,1656,1656,518,1656,1138,1656,1656,1656,518,1656,1656	11	3	1	0
chrX	67546530	67546547	GGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1384_1401del:p.G468_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:13,0,0,0,27,0,0:40:99:.:.:1099,1138,1656,1138,1656,1656,1138,1656,1656,1656,0,518,518,518,432,1138,1656,1656,1656,518,1656,1138,1656,1656,1656,518,1656,1656	11	3	1	0
chrX	67546547	67546547	-	GGCGGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGCGGC:p.G473_E474insGG	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:13,0,0,0,27,0,0:40:99:.:.:1099,1138,1656,1138,1656,1656,1138,1656,1656,1656,0,518,518,518,432,1138,1656,1656,1656,518,1656,1138,1656,1656,1656,518,1656,1656	11	3	1	0
chrX	67546515	67546547	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1401del:p.G463_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1337344	Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder	MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186626054	0.0006	0.0005	0.0005	0.0007	0.0061	0.0005	0.0005	0.0030	0.0022	0.0025	0.0030	0.0014	0.0004	9.153e-05	0.0061	0.0003	0.0017	0.0010	0.0008	0.0006	0.0007	0.0008	0.0022	0.0006	0.0006	0.0014	0.0011	0.0013	0	0.0022	0.0009	0	0	0	0.0003	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/4:13,0,0,0,27,0,0:40:99:.:.:1099,1138,1656,1138,1656,1656,1138,1656,1656,1656,0,518,518,518,432,1138,1656,1656,1656,518,1656,1138,1656,1656,1656,518,1656,1656	11	3	1	0
chrX	69505338	69505338	-	CTG	exonic	FAM155B	.	nonframeshift insertion	FAM155B:NM_015686:exon1:c.56_57insCTG:p.C24_W25insC,	.	.	412	1026	81	1	2	85	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1287.01	86	chrX	69505335	.	TCTG	T,TCTGCTG	1287.01	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=8.000e-03;DP=1050;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.1975;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=2.52;ReadPosRankSum=-1.560e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:66,5,0:71:11:11,0,2719,210,2734,2944	14	0	6	0
chrX	77681715	77681715	C	G	exonic	ATRX	.	nonsynonymous SNV	ATRX:NM_138270:exon8:c.G3427C:p.V1143L	Alpha-thalassemia myelodysplasia syndrome, somatic;Alpha-thalassemia/mental retardation syndrome, X-linked dominant;Mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive	.	29	1492	1	0	0	1	0.000335008	.	.	137398	Inborn_genetic_diseases|not_provided|Alpha_thalassemia-X-linked_intellectual_disability_syndrome|not_specified|ATRX-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010519,MedGen:C1845055,OMIM:301040,Orphanet:847|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.026	B	0.018	B	0.939	N	1.000	N	0.695	N	-2.95	D	-0.613	T	0.426	T	0.13	0.400	6.172	-3.02	-0.540	-0.493	5.696	0.120	0.0467387390179	0.0017	0.000794702	0.0015	0.0002	0.0002	0	0.0075	0.0019	0.0016	0.0004	0.0013777	213	154602	rs61758732	0.0013	0.0013	0.0013	0.0013	0.0011	0.0012	0.0012	0.0011	0.0010	3.825e-05	8.682e-05	0	0	0.0098	0	0.0011	0.0008	0.0003	0.0013	0.0014	0.0013	0.0013	0.0014	0.0011	0.0011	0.0011	0.0010	0.0002	0	0	0	0	0.0108	0	0.0014	0.0007	0	0.024	0.47745	D	0.374	0.30828	T	0.007	0.14184	B	0.005	0.11217	B	0.939230	0.07584	N	1.031250	1	0.08975	N	.	.	.	-2.95	0.91903	D	-0.53	0.16393	N	0.032	0.04426	-0.6131	0.64275	T	0.426	0.76923	T	10	0.006064117	0.00136	T	0.046739	0.62596	D	0.120	0.33359	.	.	0.489948921735	0.48629	0.11863875637863988	0.11790	0.0242731493867	0.02464	0.328890562057	0.14766	T	0.00683	0.16396	T	-0.495366	0.00607	T	-0.490811	0.23306	T	0.00121118729591661	0.00012	T	0.762924	0.60805	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28492	B	.;.;.;.	.;.;.;.	0.836293	0.12081	8.632	0.70906530151531388	0.09450	0.04386	0.09966	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.960983914301221	0.28524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	-3.02	0.05116	-0.798000	0.04670	-0.179000	0.11150	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.993000	0.69303	0.0:0.248:0.2568:0.4952	5.696	0.17126	200	0.92234	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	3945.08	34	chrX	77681715	.	C	G	3945.08	.	AC=2;AF=0.048;AN=42;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.88;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3973,360,0	20	1	0	0
chrX	101493709	101493709	G	C	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.G5120C:p.G1707A,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	-1.021	T	0.065	T	0.077	0.674	7.608	1.66	0.138	0.733	5.604	0.008	0.0196590180828	.	.	0.0005	0	0.0071	0	0	0	0	0.0007	5.82e-05	9	154602	rs782179958	5.565e-05	5.281e-05	3.994e-05	8.789e-05	0.0006	4.365e-05	3.991e-05	0.0004	0.0004	0	0	0	0	0	0.0002	2.685e-05	9.028e-05	0.0006	1.837e-05	1.743e-05	2.576e-05	0	3.821e-05	3.05e-06	1.14e-06	6.34e-06	2.37e-06	0	0	0	0	0	0	0	3.821e-05	0	0	.	.	.	0.188	0.28669	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.04	0.20808	T	.	.	.	0.092	0.07125	-1.0208	0.23454	T	0.065	0.26948	T	4	0.0077970326	0.00177	T	0.019659	0.42079	T	0.008	0.00669	.	.	0.233785782151	0.22967	0.06253017750064703	0.06193	.	.	0.41553580761	0.27222	T	.	.	.	-0.767088	0.00014	T	-0.976612	0.00189	T	0.0634528249502182	0.07700	T	0.540046	0.18281	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26794	B	.	.	1.786345	0.22706	15.73	0.76339488687125712	0.11428	0.02638	0.07235	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.963182883306993	0.28673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.61	1.66	0.23081	0.497000	0.22222	0.895000	0.22503	0.502000	0.22824	0.002000	0.15269	0.979000	0.30280	0.963000	0.52385	0.1202:0.3875:0.4923:0.0	5.604	0.16652	124	0.95048	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2697.98	92	chrX	101493709	.	G	C	2697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=1454;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=1.25;SOR=0.690	GT:AD:DP:GQ:PL	0/1:99,101:200:99:2712,0,2596	20	0	1	0
chrX	102460725	102460725	-	A	exonic	TCP11X1;TCP11X2	.	frameshift insertion	TCP11X2:NM_001277423:exon10:c.1011dupT:p.L338Sfs*24	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14e-05	1.275e-05	1.693e-05	0	0.0002	6.08e-06	4.8e-06	0.0001	8.259e-05	0	0	0	0	0	0.0002	1.221e-06	0	0.0002	1.765e-05	1.742e-05	2.57e-05	0	6.494e-05	2.93e-06	1.1e-06	1.075e-05	4.02e-06	6.494e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	505.94	33	chrX	102460725	.	G	GA	505.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.272;DP=885;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=33.48;MQRankSum=-1.818e+00;QD=2.78;ReadPosRankSum=0.425;SOR=0.740	GT:AD:DP:GQ:PL	0/1:147,35:182:99:520,0,3923	20	0	1	0
chrX	107794614	107794614	G	T	exonic	NCBP2L	.	nonsynonymous SNV	NCBP2L:NM_001348372:exon2:c.G394T:p.V132L,	.	.	433	1087	1	1	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	N	0.998	D	.	.	-0.81	T	-0.476	T	0.381	T	0.074	2.379	13.91	1.23	-0.004	3.311	5.268	0.248	0.0615954431026	.	.	9.761e-05	0	0.0001	0	0	6.726e-05	0	0.0004	9.06e-05	14	154602	rs765806781	9.42e-05	9.399e-05	5.252e-05	0.0002	0.0007	7.093e-05	6.401e-05	0.0005	0.0004	0	0	0	0	0	0	3.515e-05	0.0002	0.0007	4.502e-05	4.353e-05	3.856e-05	6.014e-05	0.0008	1.716e-05	1.056e-05	0.0001	5.646e-05	0	0	0	0	0	0	0	5.658e-05	0	0.0008	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	0.000268	0.46590	N	0.141450	0.998275	0.44710	D	.	.	.	.	.	.	.	.	.	0.018	0.00252	-0.4758	0.69519	T	0.381	0.73751	T	7	0.17137721	0.31853	T	0.061595	0.68382	D	.	.	.	.	0.0920862733494	0.08535	0.1665284789261722	0.16572	0.0312905223843	0.03243	.	.	.	0.29604	0.66868	T	-0.262851	0.12569	T	-0.258966	0.48927	T	0.368434935808182	0.27737	T	0.924308	0.72323	D	0.14514673	0.33285	0.13907897	0.33196	0.14514673	0.33284	0.13907897	0.33195	-7.871	0.60187	D	.	.	0.117	0.24123	B	.;.	.;.	1.192009	0.15836	12.14	0.92230992226364428	0.21607	0.95943	0.66827	D	AEFBI	.	.	.	.	.	.	.	.	.	0.124085938104106	0.16950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.05	1.23	0.20358	3.756000	0.54917	0.578000	0.19676	0.676000	0.76740	1.000000	0.71638	0.001000	0.17328	0.010000	0.09038	0.2674:0.1469:0.5857:0.0	5.268	0.14924	13	0.98894	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1331.98	36	chrX	107794614	.	G	T	1331.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.890e-01;DP=861;ExcessHet=0.0000;FS=1.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=0.167;SOR=0.549	GT:AD:DP:GQ:PL	0/1:71,55:126:99:1346,0,1978	20	0	1	0
chrX	115191332	115191332	G	C	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G1891C:p.E631Q,	.	.	440	1060	17	5	0	27	0.0125757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.831	P	0.557	P	.	.	1.000	N	0	N	3.42	T	-0.966	T	0.012	T	0.1	1.739	11.78	-0.557	0.108	0.651	4.319	0.037	0.00109112982056	.	0.000529801	0.0027	0.0006	0.0032	0	0.0067	0.0017	0	0.0042	0.0005627	87	154602	rs201518011	0.0021	0.0020	0.0021	0.0022	0.0105	0.0021	0.0020	0.0079	0.0071	0.0002	0.0003	0.0007	0	0.0029	0.0105	0.0022	0.0019	0.0034	0.0009	0.0010	0.0011	0.0005	0.0015	0.0008	0.0007	0.0012	0.0011	0.0003	0	0.0003	0.0012	0	0.0009	0.0060	0.0015	0.0007	0.0008	0.0	0.91255	D	0.48	0.11899	T	0.831	0.46109	P	0.557	0.49454	P	.	.	.	.	0.999986	0.18198	N	0.55	0.14455	N	3.42	0.05507	T	-0.27	0.11366	N	0.028	0.00618	-0.9662	0.37974	T	0.012	0.04747	T	9	0.0048033893	0.00102	T	0.001091	0.01287	T	0.037	0.09474	.	.	0.0401082797425	0.02173	0.008967215656300098	0.00859	.	.	0.48147302866	0.36260	T	0.003683	0.03091	T	-0.816133	0.00006	T	-0.949398	0.00264	T	0.065986807732433	0.08075	T	0.393061	0.09795	T	0.14561872	0.33372	0.14239101	0.33876	0.14561872	0.33372	0.14239101	0.33875	-9.698	0.72084	D	.	.	0.353	0.56773	A	.	.	1.536580	0.19710	14.40	0.9866867258465577	0.44442	0.00764	0.03159	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0023180949260896	0.09317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	-0.557	0.11209	-1.529000	0.02327	0.708000	0.20910	0.306000	0.19039	0.000000	0.06391	0.008000	0.19753	0.001000	0.02609	0.3291:0.0:0.6709:0.0	4.319	0.10446	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	0.025	4443.33	199	chrX	115191332	.	G	C	4443.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.765e+00;DP=3383;ExcessHet=0.0000;FS=0.398;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=59.95;MQRankSum=-8.810e-01;QD=13.22;ReadPosRankSum=0.243;SOR=0.689	GT:AD:DP:GQ:PL	0/1:148,188:336:99:4457,0,3636	19	0	1	1
chrX	120875036	120875036	G	C	exonic	CT47B1	.	nonsynonymous SNV	CT47B1:NM_001145718:exon1:c.C635G:p.A212G,	.	.	10	1498	9	5	0	19	0.00630182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.862	P	0.188	B	.	.	1.000	N	0.805	L	.	.	-1.060	T	0.037	T	0.065	0.917	8.732	1.24	0.903	-0.479	5.437	0.041	0.000850217744994	.	0.000794702	0.0007	0.0001	0.0001	0	0	0.0001	0.0016	0.0049	0.0005951	92	154602	rs760028626	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0049	0.0047	3.795e-05	0	0	0	0	0.0012	4.516e-05	0.0002	0.0054	0.0002	0.0002	3.856e-05	0.0004	0.0040	9.59e-05	7.905e-05	0.0023	0.0018	3.226e-05	0	0	0	0	0	0.0046	7.533e-05	0	0.0040	0.077	0.34095	T	0.164	0.31026	T	0.862	0.47435	P	0.188	0.36237	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	.	.	.	-1.41	0.34795	N	0.016	0.00203	-1.0604	0.11656	T	0.037	0.15899	T	8	0.005553782	0.00123	T	8.5E-4	0.00734	T	0.041	0.10877	0.142	0.04556	0.201204373187	0.19734	0.015435167580957776	0.01499	0.00543823725618	0.00476	0.474154531956	0.35252	T	0.033169	0.22801	T	-0.78585	0.00010	T	-0.90078	0.00497	T	0.0387966111302376	0.03473	T	0.511749	0.16382	T	0.07569074	0.17069	0.10228518	0.24509	0.07569074	0.17069	0.10228518	0.24509	-3.978	0.23473	T	.	.	0.163	0.35992	B	.	.	0.816588	0.11877	8.442	0.92390273536993017	0.21801	0.00898	0.03523	N	AEFBI	.	.	.	.	.	.	.	.	.	5.14105901477686E-5	0.04171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.24	1.24	0.20416	-3.104000	0.00664	0.232000	0.16202	0.392000	0.20495	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.0:1.0:0.0	5.437	0.15784	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1194.98	39	chrX	120875036	.	G	C	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=809;ExcessHet=0.0000;FS=0.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=-1.400e-02;SOR=0.702	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1209,0,980	20	0	1	0
chrX	120875306	120875306	A	T	exonic	CT47B1	.	nonsynonymous SNV	CT47B1:NM_001145718:exon1:c.T365A:p.F122Y,	.	.	8	1499	10	5	0	20	0.00662691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.877	P	0.916	D	0.250	N	1.000	N	0.805	L	.	.	-1.015	T	0.100	T	0.343	2.256	13.50	-1.35	-0.387	-0.240	5.758	0.065	0.0102368559737	.	0.000794702	0.0007	0.0001	0.0001	0	0	0.0001	0.0017	0.0050	0.0005951	92	154602	rs765375138	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0049	0.0047	3.789e-05	0	0	0	0	0.0012	4.516e-05	0.0002	0.0054	0.0001	0.0002	3.854e-05	0.0004	0.0036	8.853e-05	7.153e-05	0.0019	0.0015	3.195e-05	0	0	0	0	0	0.0046	7.508e-05	0	0.0036	0.036	0.43393	D	1.0	0.01155	T	0.877	0.48223	P	0.916	0.65201	D	0.250082	0.15528	N	0.470590	1	0.08975	N	1.955	0.52871	M	.	.	.	-1.03	0.27052	N	0.117	0.10626	-1.0148	0.25400	T	0.100	0.37265	T	9	0.008594394	0.00195	T	0.010237	0.26544	T	0.065	0.18881	0.307	0.27806	0.0297737177859	0.01360	0.0457754556263806	0.04521	0.0192792102347	0.01888	0.667820811272	0.62527	T	0.030334	0.21526	T	-0.566339	0.00233	T	-0.585468	0.14062	T	0.0987098068554941	0.12215	T	0.281072	0.04905	T	0.19576402	0.41377	0.11481417	0.27716	0.19576402	0.41377	0.11481417	0.27715	-4.297	0.28135	T	.	.	0.248	0.48272	B	.	.	1.701288	0.21672	15.30	0.98477144810744788	0.41931	0.00469	0.02250	N	AEFDBI	.	.	.	.	.	.	.	.	.	2.55629056143212E-4	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.74	-1.35	0.08638	0.044000	0.13876	-14.612000	0.00395	0.548000	0.25860	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4199:0.5801:0.0:0.0	5.758	0.17451	949	0.11373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1701.98	39	chrX	120875306	.	A	T	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.227;DP=935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=0.122;SOR=0.717	GT:AD:DP:GQ:PL	0/1:97,76:173:99:1716,0,2298	20	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:51,22:81:16:16,0,649	5	0	16	0
chrX	141906310	141906414	TCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.906_1010del:p.V307_P341del,	.	.	433	998	16	7	68	98	0.0148075	.	.	2824132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.0009	0.0013	0.0005	0.0036	0.0028	0.0018	0.0015	.	.	.	.	0.0002	0.0005	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	4.076e-05	0.0003	0	0.0001	0.0002	0	0.0002	0.0001	0.0006	0.0003	0.0006	0.0004	0	0.0005	0.0002	0.0001	0.0003	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	737.47	225	chrX	141906309	.	CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	C,*	737.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.632;DP=3521;ExcessHet=0.0000;FS=5.166;InbreedingCoeff=0.6316;MLEAC=1,2;MLEAF=0.025,0.050;MQ=57.72;MQRankSum=-8.562e+00;QD=1.76;ReadPosRankSum=-3.515e+00;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,66,0:330:99:0|1:141906309_CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT_C:751,0,9780,1544,9946,11490:141906309	18	0	1	1
chrX	141906309	141906414	CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	0	exonic	MAGEC1	.	.	.	.	.	433	998	16	7	68	98	0.0148075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	737.47	225	chrX	141906309	.	CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	C,*	737.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.632;DP=3521;ExcessHet=0.0000;FS=5.166;InbreedingCoeff=0.6316;MLEAC=1,2;MLEAF=0.025,0.050;MQ=57.72;MQRankSum=-8.562e+00;QD=1.76;ReadPosRankSum=-3.515e+00;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,66,0:330:99:0|1:141906309_CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT_C:751,0,9780,1544,9946,11490:141906309	18	0	1	1
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,175,59:234:99:1|0:141906309_CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT_C:6673,1588,998,4929,0,6589:141906309	4	11	2	2
chrX	150816021	150816021	G	A	exonic	CD99L2	.	nonsynonymous SNV	CD99L2:NM_001184808:exon3:c.C188T:p.P63L	.	.	.	.	.	.	.	.	.	.	.	3299926	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	.	.	1.000	N	2.31	M	2.02	T	-1.058	T	0.110	T	0.226	0.626	7.365	1.5	0.426	1.722	4.673	0.067	0.00334600177219	.	.	0.0002	0	0.0001	0.0003	0	0	0.0016	0.0012	0.0001811	28	154602	rs782821150	9.563e-05	9.561e-05	6.67e-05	0.0002	0.0014	8.05e-05	7.525e-05	0.0012	0.0011	3.789e-05	5.682e-05	0	9.933e-05	0	0	1.9e-05	0.0001	0.0014	5.384e-05	6.965e-05	3.856e-05	8.918e-05	0.0011	2.332e-05	1.568e-05	0.0003	0.0002	3.267e-05	0	9.549e-05	0	0	0	0	1.883e-05	0	0.0011	0.085	0.49613	T	0.069	0.52060	T	0.027	0.19556	B	0.003	0.08700	B	.	.	.	.	0.999868	0.20372	N	2.765	0.80766	M	2.02	0.21119	T	-4.36	0.86527	D	0.168	0.22614	-1.0579	0.12286	T	0.110	0.39675	T	8	0.04211721	0.02930	T	0.003346	0.07451	T	0.067	0.19503	0.282	0.23801	0.270889551736	0.26708	0.4466486163291473	0.44582	0.073922003083	0.08283	0.428359508514	0.28985	T	0.18158	0.53330	T	-0.597517	0.00151	T	-0.671602	0.07506	T	0.197161157014037	0.20258	T	0.716728	0.34774	T	0.10189166	0.24072	0.18126416	0.40979	0.10189166	0.24072	0.18126416	0.40978	-9.303	0.70498	D	.	.	0.097	0.20469	B	.;.;.	.;.;.	2.484289	0.32044	18.92	0.78077085006333591	0.12146	0.24325	0.22358	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.792742952373553	0.24043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.37	1.5	0.22029	2.191000	0.42272	5.943000	0.51513	-0.818000	0.02990	0.982000	0.35529	1.000000	0.68203	0.037000	0.13953	0.1942:0.0:0.8058:0.0	4.673	0.12084	924	0.18029	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	697.98	36	chrX	150816021	.	G	A	697.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=787;ExcessHet=0.0000;FS=0.901;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=-1.818e+00;SOR=0.916	GT:AD:DP:GQ:PL	0/1:47,29:76:99:712,0,1137	20	0	1	0
chrX	154887269	154887269	T	A	exonic	F8A1;F8A2;F8A3	.	nonsynonymous SNV	F8A2:NM_001007523:exon1:c.T895A:p.S299T	.	.	1132	389	1	0	0	1	0.0012837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.071	B	0.02	B	0.009	U	1.000	N	1.04	L	2.01	T	-0.992	T	0.029	T	0.199	-0.023	3.897	1.18	0.242	1.140	6.368	0.028	0.00742575478766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372700297	0.0006	0.0006	0.0008	0.0002	0.0105	0.0005	0.0005	0.0094	0.0090	0	4.304e-05	0	0.0105	0	0.0005	0.0001	0.0006	0.0024	0.0003	0.0004	0.0004	0	0.0090	0.0002	0.0002	0.0053	0.0042	0	0	0	0	0.0090	0	0.0056	7.866e-05	0.0014	0.0010	.	.	.	0.864	0.03371	T	0.071	0.23930	B	0.02	0.19048	B	0.009286	0.30429	U	0.264374	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.265	0.30004	-0.9921	0.32063	T	0.029	0.12278	T	10	0.017606884	0.00377	T	0.007426	0.19712	T	.	.	0.188	0.09776	0.294206760003	0.29026	0.43534587454097357	0.43451	.	.	0.850572109222	0.89702	D	0.017287	0.14127	T	-0.220878	0.17874	T	-0.555052	0.16845	T	0.125031068921089	0.14915	T	0.776522	0.40874	T	0.2848136	0.51506	0.29975963	0.56010	0.2848136	0.51506	0.29975963	0.56009	-3.174	0.12165	T	.	.	.	.	.	.	.	1.948077	0.24746	16.51	0.94099304249995241	0.24261	0.64842	0.32539	D	AEFI	.	.	.	.	.	.	.	.	.	4.68507251805211E-5	0.03989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.41	1.18	0.20058	-0.109000	0.10810	4.430000	0.43347	0.479000	0.22080	0.014000	0.18986	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.5226:0.4774	6.368	0.20668	89	0.96298	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	65.83	5	chrX	154887269	.	T	A	65.83	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.150e+00;DP=61;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0984;MLEAC=1;MLEAF=0.028;MQ=25.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=0.674;SOR=1.609	GT:AD:DP:GQ:PL	0/1:1,3:4:18:77,0,18	17	0	1	3